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	NSWES982	WT	HH	HZ	NC
chr1	1520272	1520272	G	T	exonic	ATAD3A	.	nonsynonymous SNV	ATAD3A:NM_001170535:exon6:c.G646T:p.A216S,ATAD3A:NM_001170536:exon6:c.G409T:p.A137S,ATAD3A:NM_018188:exon6:c.G790T:p.A264S	Harel-Yoon syndrome, Autosomal recessive, Autosomal dominant	419	1077	26	0	0	26	0.0119266	.	.	.	1686913	not_provided|Harel-Yoon_syndrome|Pontocerebellar_hypoplasia,_hypotonia,_and_respiratory_insufficiency_syndrome,_neonatal_lethal	MedGen:C3661900|MONDO:MONDO:0014958,MedGen:C4310677,OMIM:617183,Orphanet:496790|MONDO:MONDO:0032931,MedGen:C5394137,OMIM:618810,Orphanet:615954	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.292	0.0955978924748	.	.	0.0018	0.0007	0.0025	0.0010	0.0005	0.0014	0	0.0044	0.0014215	37	26028	rs2767471	0.0021	0.0043	0.0020	0.0022	0.0075	0.0021	0.0020	0.0057	0.0055	0.0009	0.0026	0.0027	0.0008	0.0007	0.0075	0.0019	0.0026	0.0061	0.0023	0.0033	0.0022	0.0024	0.0092	0.0021	0.0020	0.0070	0.0062	0.0013	0.0034	0.0038	0.0038	0.0008	0.0005	0	0.0023	0.0053	0.0092	0.675	0.05341	T	0.781	0.04754	T	0.011	0.15914	B	0.021	0.19346	B	0.000001	0.84330	D	0.054326	0.999869	0.52396	D	1.015	0.25427	L	-2.51	0.94388	D	-0.1	0.08495	N	0.538	0.58543	-0.9533	0.40398	T	0.149	0.47628	T	10	0.015180975	0.00319	T	0.095598	0.76457	D	0.292	0.61157	.	.	0.932167581305	0.93147	0.687842377180206	0.68724	0.31987693866	0.34186	0.610906600952	0.54443	T	0.008686	0.07960	T	0.127993	0.67165	D	-0.0539229	0.66754	D	0.0335206877635964	0.02558	T	0.766023	0.39401	T	0.11585989	0.27334	0.111079946	0.26792	0.10818954	0.25581	0.13856177	0.33086	-7.469	0.60462	T	0.11934370030895095	0.11107	0.081	0.16800	B	.;.;.	.;.;.	2.800539	0.36834	20.3	0.79650746184235233	0.12838	0.98794	0.86939	D	AEFDGBI	0.838092	0.75565	D	0.0322615848157824	0.43327	2.627806	0.0445102551942682	0.41807	2.517902	0.99960244628919	0.40866	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.43	3.44	0.38486	7.393000	0.79126	8.274000	0.76893	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.104000	0.18471	0.0:0.0:0.8418:0.1582	13.273	0.59605	846	0.36215	.;ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.020256	0.036458	0.004076	0.008264	0.050000	0.025862	0.034161	0.015267	0.07143	63.44	40	chr1	1520272	.	G	T	63.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.524;DP=321;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=53.07;MQRankSum=-1.036;QD=12.69;ReadPosRankSum=-1.645;SOR=1.179	GT:AD:DP:GQ:PL	0/1:2,3:5:34:74,0,34	6	0	1	0
chr1	9040060	9040082	TTACCTTTCTTGGCGGCCGCTTC	-	exonic	SLC2A5	.	frameshift deletion	SLC2A5:NM_001328621:exon3:c.238_256del:p.E80Pfs*34,SLC2A5:NM_001328620:exon6:c.547_565del:p.E183Pfs*34,SLC2A5:NM_003039:exon6:c.679_697del:p.E227Pfs*34,SLC2A5:NM_001328619:exon7:c.679_697del:p.E227Pfs*34	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	74.18	25	chr1	9040059	.	GTTACCTTTCTTGGCGGCCGCTTC	G	74.18	.	AC=2;AF=0.143;AN=14;DP=190;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=24.88;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:90,6,0	6	1	0	0
chr1	9773313	9773313	G	C	exonic	CLSTN1	.	nonsynonymous SNV	CLSTN1:NM_001009566:exon2:c.C173G:p.P58R,CLSTN1:NM_001302883:exon2:c.C173G:p.P58R,CLSTN1:NM_014944:exon2:c.C173G:p.P58R	.	432	1085	3	2	0	7	0.00321543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.435	0.0834448211146	.	.	.	.	.	.	.	.	.	.	.	.	.	rs757749011	8.894e-06	8.893e-06	5.446e-06	1.238e-05	0.0001	4.96e-06	3.82e-06	6.247e-05	4.758e-05	0	0	0	0	0	0	1.799e-06	1.656e-05	0.0001	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.115	0.28702	L	0.76	0.49919	T	-5.06	0.82764	D	0.91	0.92317	-0.7597	0.57422	T	0.186	0.53586	T	10	0.8711057	0.86377	D	0.083445	0.74118	D	0.435	0.74022	0.486	0.56939	0.711621314016	0.70910	0.6264576467841481	0.62578	0.983164493924	0.73813	0.701933562756	0.67423	T	0.269585	0.64180	T	0.0727142	0.61178	D	0.103341	0.77129	D	0.891268730163574	0.54219	D	0.987451	0.95727	D	0.5231232	0.68439	0.42596167	0.66388	0.5231232	0.68440	0.42596167	0.66388	-9.527	0.73726	D	.	.	0.354	0.56825	A	.;.	.;.	4.668098	0.74577	26.2	0.99764958223972211	0.85417	0.98986	0.89571	D	AEFBI	0.896714	0.83807	D	0.433396756146388	0.63268	4.557317	0.407074471281462	0.62004	4.40893	0.999999999989681	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.59	5.59	0.84677	9.483000	0.96898	11.446000	0.92782	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.013000	0.09966	0.0:0.0:1.0:0.0	18.730	0.91695	635	0.64580	Cadherin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	36	chr1	9773313	.	G	C	33.22	.	AC=2;AF=0.143;AN=14;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr1	12063648	12063648	G	A	exonic	TNFRSF8	.	nonsynonymous SNV	TNFRSF8:NM_001243:exon1:c.G50A:p.R17Q	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00426251772585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.772	0.03363	T	0.505	0.11004	T	0.012	0.16265	B	0.002	0.06944	B	0.025751	0.01636	N	2.494840	1	0.20609	N	-1.245	0.00777	N	1.8	0.25344	T	0.13	0.05503	N	0.031	0.00770	-1.0228	0.22802	T	0.024	0.10058	T	10	0.028710008	0.01001	T	0.004263	0.10310	T	0.024	0.04979	0.399	0.42753	0.102598925029	0.09809	0.24661527940891856	0.24575	0.235134821444	0.26041	0.435458242893	0.29956	T	0.128451	0.45611	T	-0.369009	0.03645	T	-0.767832	0.02840	T	0.333319544792175	0.26358	T	0.436356	0.11970	T	0.030014744	0.02593	0.069466	0.14641	0.030014744	0.02593	0.069466	0.14641	-3.73	0.19761	T	.	.	0.109	0.20972	B	.	.	0.537364	0.09061	5.843	0.93833585977029044	0.23823	0.02051	0.06129	N	AEFDGBHCI	0.036245	0.04799	N	-1.45405952172746	0.02185	0.09620422	-1.43616055646306	0.02897	0.1341662	0.999999999995715	0.74766	0.766844	0.99359	0	0.52208	0.09955	0	0.851219	0.99655	0	0.530356	0.10902	0	.	.	3.03	-1.07	0.09459	-0.436000	0.06992	-0.227000	0.10711	-0.992000	0.01845	0.004000	0.16614	0.000000	0.08366	0.133000	0.19684	0.5421:0.0:0.4579:0.0	6.218	0.19875	656	0.62345	Tumour necrosis factor receptor 8, 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	.	.	.	.	.	.	.	.	0.1429	33.22	24	chr1	12063648	.	G	A	33.22	.	AC=2;AF=0.143;AN=14;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr1	12261930	12261930	G	T	exonic	VPS13D	.	nonsynonymous SNV	VPS13D:NM_015378:exon13:c.G1444T:p.D482Y,VPS13D:NM_018156:exon13:c.G1444T:p.D482Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.512	0.00362683110702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	1.0	0.90584	D	0.998	0.92359	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.36	0.67893	M	.	.	.	.	.	.	0.805	0.82257	-0.5244	0.67752	T	0.281	0.65250	T	10	0.77721727	0.77557	D	0.003627	0.08340	T	.	.	0.458	0.52427	0.158540857583	0.15491	0.8051392701897068	0.80468	.	.	0.569984793663	0.48675	T	0.653828	0.89528	D	0.263212	0.79825	D	0.14031	0.79564	D	0.988545256578095	0.78862	D	0.927007	0.73102	D	0.9274849	0.93985	0.8237988	0.89783	0.9274849	0.93985	0.8237988	0.89783	-5.742	0.44066	T	0.8031614704474634	0.87950	0.301	0.53032	B	.;.	.;.	4.719171	0.75895	26.4	0.99513019279412096	0.68739	0.99589	0.97750	D	AEFBI	0.844195	0.76117	D	0.894273664347723	0.91475	10.90315	0.873349369367309	0.94303	12.657	0.999999999977384	0.74766	0.651	0.46895	0	0.546412	0.12157	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.49	5.49	0.81022	9.116000	0.93665	10.000000	0.83036	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	18.364	0.90327	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	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr1	12261930	.	G	T	33.22	.	AC=2;AF=0.143;AN=14;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr1	16023870	16023945	GGTGCTCATGGCCCTGGTCAGCTATGCCATGAACTTTGCCATCGGGTGTGTGGTCCGAGGTAACTCTTCCCTGGCA	-	exonic	CLCNKA	.	frameshift deletion	CLCNKA:NM_001042704:exon3:c.171_229del:p.V58Tfs*115,CLCNKA:NM_001257139:exon3:c.171_229del:p.V58Ffs*72,CLCNKA:NM_004070:exon3:c.171_229del:p.V58Tfs*115	Bartter syndrome, type 4b, digenic, Digenic recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	67.4	33	chr1	16023869	.	GGGTGCTCATGGCCCTGGTCAGCTATGCCATGAACTTTGCCATCGGGTGTGTGGTCCGAGGTAACTCTTCCCTGGCA	G	67.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.38;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.85;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:78:78,0,78	6	0	1	0
chr1	16563946	16563946	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	400	294	827	1	0	829	0.585039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1105	.	0.2789	0.2174	0.2967	0.1361	0.3057	0.2989	0.2631	0.2918	0.0008473	131	154602	rs3863779	0.0001	0.0001	0.0003	0	0.0012	0	0	.	.	0	0	0	.	0	0	0	0	0.0012	0	0.0026	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.336496	0.271084	0.351499	0.376068	0.277778	0.344828	0.297297	0.384000	0.4286	16269.5	430	chr1	16563946	.	C	T	16269.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=2.38;DP=3010;ExcessHet=8.2628;FS=0.606;MLEAC=6;MLEAF=0.429;MQ=58.73;MQRankSum=-7.271;QD=6.67;ReadPosRankSum=-0.073;SOR=0.812	GT:AD:DP:GQ:PL	0/1:19,5:24:67:67,0,519	1	0	6	0
chr1	16563989	16563989	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	391	314	816	1	0	818	0.565698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3891	0.2879	0.4120	0.2492	0.4146	0.4143	0.3885	0.3951	0.0044437	687	154602	rs12117084	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0.0016	0.0027	0.0029	0	0.0030	0	0	.	.	0	.	0	0	.	0	0	0.0030	0	0	.	.	.	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353	0.39457	.	.	.	.	.	.	.	0.0024681687	0.00037	T	.	.	.	.	.	.	.	.	.	0.02352237282194909	0.02304	.	.	0.575379014015	0.49435	T	.	.	.	-0.455599	0.01046	T	-0.892213	0.00559	T	.	.	.	0.687031	0.29593	T	.	.	.	.	.	.	.	.	-3.451	0.15752	T	.	.	0.172	0.37820	B	.	.	0.069283	0.04780	1.396	0.1972110124842818	0.00678	0.00975	0.03723	N	AEFDBCIJ	0.029075	0.02679	N	.	.	.	.	.	.	7.36511087105358E-4	0.07723	0.383005	0.05895	0	0.332388	0.05802	1	0.457825	0.06646	0	0.467017	0.07116	0	.	.	0.566	0.566	0.16501	-0.694000	0.05217	-10.261000	0.00721	-1.511000	0.01016	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.358989	0.280488	0.387978	0.366379	0.277778	0.379310	0.324138	0.412000	0.4286	18013.5	619	chr1	16563989	.	G	C	18013.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=0.809;DP=4019;ExcessHet=8.2628;FS=0;MLEAC=6;MLEAF=0.429;MQ=59.42;MQRankSum=-0.593;QD=5.25;ReadPosRankSum=0.556;SOR=0.723	GT:AD:DP:GQ:PL	0/1:28,6:34:46:46,0,680	1	0	6	0
chr1	16564107	16564107	T	G	exonic	NBPF1	.	unknown	UNKNOWN	.	383	318	815	6	0	827	0.565277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4042	0.4090	0.4331	0.2091	0.4092	0.4156	0.4105	0.4299	0.0114492	298	26028	rs2990551	0	0.0008	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0042	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.218	0.26066	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.17828	.	.	.	.	.	.	.	0.005626291	0.00125	T	.	.	.	.	.	.	.	.	.	0.015489301517433041	0.01504	.	.	0.533775627613	0.43567	T	.	.	.	-0.499041	0.00579	T	-0.954615	0.00248	T	.	.	.	0.465553	0.17787	T	.	.	.	.	.	.	.	.	-2.062	0.03424	T	.	.	0.177	0.38676	B	.;.	.;.	-0.174163	0.03224	0.539	0.25431419136250621	0.01172	0.01395	0.04735	N	AEFDBHCI	0.031569	0.03403	N	.	.	.	.	.	.	7.84172557205885E-4	0.07810	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	-0.849	0.10181	-0.576000	0.05947	-14.342000	0.00409	-0.599000	0.04621	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.364819	0.306250	0.372283	0.388889	0.187500	0.405172	0.335714	0.360000	0.4286	15251.5	646	chr1	16564107	.	T	G	15251.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.876;DP=3869;ExcessHet=8.2628;FS=0;MLEAC=6;MLEAF=0.429;MQ=55.69;MQRankSum=3.18;QD=4.75;ReadPosRankSum=1.46;SOR=0.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:23,11:34:99:.:.:222,0,654:.	1	0	6	0
chr1	16564144	16564144	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	396	90	1031	5	0	1041	0.85258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	0.3425	0.4588	0.4722	0.4820	0.4666	0.4640	0.4780	0.0474489	1235	26028	rs1043750	0.0010	0.0018	0.0014	0.0006	0.0011	0.0005	0.0004	0.0006	0.0004	0	0	0	.	0.0027	0	0.0011	0.0016	0	0	0.0038	0	0	.	0	0	.	.	.	.	0	.	.	0	.	0	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.428814	0.400000	0.425272	0.420168	0.375000	0.439655	0.440559	0.455645	0.5	26158.1	476	chr1	16564144	.	C	T	26158.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.919;DP=3008;ExcessHet=14.2834;FS=3.476;MLEAC=7;MLEAF=0.5;MQ=52.79;MQRankSum=-17.02;QD=8.98;ReadPosRankSum=0.726;SOR=0.923	GT:AD:DP:GQ:PL	0/1:11,13:24:99:326,0,423	0	0	7	0
chr1	16564149	16564149	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	397	86	1030	9	0	1048	0.859016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	0.4863	0.4979	0.4883	0.4979	0.4937	0.49	0.4947	0.0530967	1382	26028	rs2992339	0.0004	0.0011	0.0002	0.0006	0.0006	0.0001	8.492e-05	0.0002	0.0001	0	0	0	.	0	0	0.0006	0	0	0	0.0048	0	0	.	0	0	.	.	.	.	0	.	.	.	.	0	.	0	.	.	.	0.027	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.0017973781	0.00024	T	.	.	.	.	.	.	.	.	.	0.0179163774864188	0.01745	.	.	0.506860494614	0.39783	T	.	.	.	-0.443409	0.01235	T	-0.874703	0.00699	T	.	.	.	0.69743	0.33655	T	.	.	.	.	.	.	.	.	-6.206	0.47972	T	.	.	0.161	0.35519	B	.;.	.;.	1.213019	0.16064	12.29	0.62062331923232983	0.06867	0.00721	0.03037	N	AEFBCI	0.018716	0.00589	N	.	.	.	.	.	.	7.30078675238498E-5	0.04552	0.109238	0.02860	1	0.063085	0.00849	2	0.155693	0.03940	1	0.195052	0.04227	1	.	.	0.566	-0.824	0.10266	0.108000	0.15232	-3.220000	0.02960	0.312000	0.19173	0.030000	0.20431	0.000000	0.08366	0.016000	0.10718	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.483089	0.444444	0.491848	0.487395	0.375000	0.500000	0.478873	0.492000	0.5	19289.1	458	chr1	16564149	.	C	T	19289.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.453;DP=2860;ExcessHet=14.2834;FS=1.998;MLEAC=7;MLEAF=0.5;MQ=52.6;MQRankSum=6.43;QD=6.88;ReadPosRankSum=-0.812;SOR=0.526	GT:AD:DP:GQ:PL	0/1:13,11:24:99:217,0,513	0	0	7	0
chr1	16567226	16567226	A	C	exonic	NBPF1	.	unknown	UNKNOWN	.	324	803	395	0	0	395	0.197401	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0195	.	0.1438	0.0722	0.1053	0.1226	0.1691	0.1504	0.1502	0.1896	0.10516	16258	154602	rs201533998	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.594e-05	0.0001	8.876e-05	0	5.065e-05	0.0007	0.0001	0	0	0.0001	0.0001	0.0001	3.682e-05	0.0001	7.054e-05	0	0.0002	1.377e-05	8.82e-06	1.31e-05	6.63e-06	0	0	0	0.0003	0.0002	0	0	4.936e-05	0	0	.	.	.	0.023	0.61642	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	0.37093	.	.	.	.	.	.	.	0.0041511655	0.00082	T	.	.	.	.	.	.	.	.	.	0.023240658769933194	0.02276	.	.	0.600396811962	0.52961	T	.	.	.	-0.583903	0.00182	T	-0.597232	0.13045	T	.	.	.	0.937806	0.76632	D	.	.	.	.	.	.	.	.	-6.372	0.49291	T	.	.	0.237	0.50016	B	.;.	.;.	1.595410	0.20400	14.73	0.33525994525903774	0.02002	0.02869	0.07640	N	AEFDBHCIJ	0.038534	0.05466	N	.	.	.	.	.	.	0.473035393726149	0.20723	0.383005	0.05895	0	0.152768	0.03566	2	0.457825	0.06646	0	0.393	0.06807	0	.	.	0.39	0.39	0.15500	-0.142000	0.10293	-1.937000	0.04467	0.256000	0.18359	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	491	0.76657	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.146872	0.116162	0.129076	0.131148	0.100000	0.155172	0.179878	0.175573	0.2143	2131.72	101	chr1	16567226	.	A	C	2131.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.974;DP=2770;ExcessHet=1.1394;FS=0.773;MLEAC=3;MLEAF=0.214;MQ=58.09;MQRankSum=-2.042;QD=1.23;ReadPosRankSum=0.017;SOR=0.653	GT:AD:DP:GQ:PL	0/1:22,12:34:99:230,0,544	4	0	3	0
chr1	16569091	16569091	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	375	889	257	1	0	259	0.127148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0326	.	0.0814	0.0173	0.0368	0.1017	0.0981	0.0848	0.0959	0.1219	0.0584727	9040	154602	rs78194517	0.0008	0.0021	0.0007	0.0008	0.0027	0.0007	0.0007	0.0022	0.0020	0.0002	0.0004	0.0007	0.0027	0.0010	0.0006	0.0007	0.0008	0.0018	0.0002	0.0012	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	8.673e-05	0.0001	0.0016	0	0	0.0006	0.0003	0	0.0002	0.0008	0.0004	.	.	.	0.292	0.31225	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04668	.	.	.	.	.	.	.	0.0032458305	0.00055	T	.	.	.	.	.	.	.	.	.	0.019830771613370057	0.01936	.	.	0.407212525606	0.26071	T	.	.	.	-0.874566	0.00001	T	-1.00257	0.00134	T	.	.	.	0.680232	0.28883	T	.	.	.	.	.	.	.	.	-1.717	0.02274	T	.	.	0.125	0.26263	B	.;.	.;.	-0.319513	0.02533	0.303	0.58567040118532776	0.06022	0.00752	0.03125	N	AEFBCI	0.024799	0.01593	N	.	.	.	.	.	.	6.95502039275146E-5	0.04366	0.256867	0.04430	0	0.067947	0.01809	2	0.155693	0.03940	1	0.375513	0.06772	0	.	.	0.575	0.575	0.16558	-0.193000	0.09572	-0.014000	0.13018	-0.478000	0.05075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	467	0.78285	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.067524	0.046392	0.069482	0.067227	0.100000	0.068966	0.081761	0.073643	0.2857	4008.13	353	chr1	16569091	.	T	C	4008.13	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.173;DP=1782;ExcessHet=2.5225;FS=0;MLEAC=4;MLEAF=0.286;MQ=43.63;MQRankSum=-1.456;QD=3.26;ReadPosRankSum=0.533;SOR=0.69	GT:AD:DP:GQ:PL	0/1:11,4:15:79:79,0,312	3	0	4	0
chr1	16760446	16760446	C	T	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon4:c.G383A:p.R128H	.	392	526	598	0	6	604	0.362424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.397	.	.	0.181909	0.2202	0.1841	0.2823	0.2424	0.2980	0.2226	0.2165	0.1673	0.0075808	1172	154602	rs28462251	1.288e-05	8.414e-05	1.139e-05	1.438e-05	8.359e-05	8.05e-06	6.64e-06	3.866e-05	2.726e-05	0	0	0	2.565e-05	9.971e-05	0	3.769e-06	1.724e-05	8.359e-05	0.0002	0.0011	0.0002	0.0002	0.0002	0.0001	0.0001	9.611e-05	7.423e-05	0.0002	0	0	0	0	0.0009	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	2844.02	141	chr1	16760446	.	C	T	2844.02	.	AC=6;AF=0.429;AN=14;BaseQRankSum=2.82;DP=799;ExcessHet=8.2628;FS=21.558;MLEAC=6;MLEAF=0.429;MQ=46.08;MQRankSum=-0.253;QD=4.21;ReadPosRankSum=1.1;SOR=2.08	GT:AD:DP:GQ:PL	0/1:4,4:8:75:89,0,75	1	0	6	0
chr1	16954753	16954753	C	A	exonic	CROCC	.	nonsynonymous SNV	CROCC:NM_014675:exon23:c.C3341A:p.T1114K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0294068339509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.30800	T	0.758	0.04669	T	.	.	.	.	.	.	.	.	.	.	0.999402	0.21245	N	.	.	.	0.75	0.50192	T	-1.85	0.43334	N	0.561	0.58543	-1.0231	0.22704	T	0.108	0.39123	T	9	0.22316289	0.39087	T	0.029407	0.51922	D	0.074	0.21613	0.178	0.08503	0.448300063881	0.44449	0.4451101163589065	0.44429	0.56611518488	0.52918	0.58948802948	0.51422	T	.	.	.	-0.158687	0.26963	T	-0.465719	0.25978	T	0.345044641998152	0.26823	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.47027	B	.	.	1.032934	0.14128	10.70	0.94932878457541037	0.25820	0.21952	0.21581	N	AEFBI	0.067587	0.13294	N	-0.708768819774528	0.15775	0.7979465	-0.750998616940875	0.15698	0.8268888	0.00628692253234047	0.11177	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	4.4	2.52	0.29514	-0.245000	0.08908	-0.235000	0.10642	-0.205000	0.08568	0.000000	0.06391	0.000000	0.08366	0.086000	0.17578	0.0:0.7036:0.0:0.2964	7.072	0.24360	846	0.36215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	37	chr1	16954753	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=193;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr1	20840925	20840925	T	C	exonic	EIF4G3	.	nonsynonymous SNV	EIF4G3:NM_003760:exon25:c.A3824G:p.D1275G,EIF4G3:NM_001198801:exon28:c.A3932G:p.D1311G,EIF4G3:NM_001198802:exon28:c.A3842G:p.D1281G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.553	0.0492069888906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.014	0.69154	D	0.987	0.61912	D	0.872	0.61918	P	0.000034	0.55875	D	0.156120	1	0.81001	D	2.14	0.59869	M	0.88	0.46028	T	-4.23	0.75935	D	0.811	0.80669	-0.7467	0.58107	T	0.198	0.55372	T	10	0.7871782	0.78347	D	0.049207	0.63711	D	0.553	0.81544	0.648	0.78542	0.652031612068	0.64913	0.9120386741325136	0.91177	1.59795291068	0.88644	0.750259697437	0.74485	T	0.26307	0.63472	T	0.175369	0.71617	D	0.0141294	0.71249	D	0.990575015544891	0.80798	D	0.89741	0.64114	D	0.5529422	0.70119	0.46978855	0.69251	0.5529422	0.70120	0.46978855	0.69252	-10.443	0.76525	D	.	.	0.588	0.71156	P	.;.;.;.;.	.;.;.;.;.	4.902795	0.80603	27.4	0.9986596622725421	0.94366	0.96700	0.70473	D	ALL	0.909450	0.86609	D	0.55507393994833	0.70392	5.494729	0.585448722942904	0.73896	6.04603	0.999999999999955	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.48	5.48	0.80675	7.585000	0.81876	7.819000	0.69683	0.502000	0.22824	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	15.558	0.75953	757	0.50970	.;Initiation factor eIF-4 gamma, MA3|Initiation factor eIF-4 gamma, MA3|Initiation factor eIF-4 gamma, MA3;.;Initiation factor eIF-4 gamma, MA3|Initiation factor eIF-4 gamma, MA3|Initiation factor eIF-4 gamma, MA3;Initiation factor eIF-4 gamma, MA3|Initiation factor eIF-4 gamma, MA3|Initiation factor eIF-4 gamma, MA3	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	36	chr1	20840925	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr1	22600995	22600995	G	A	exonic	EPHA8	.	nonsynonymous SNV	EPHA8:NM_020526:exon15:c.G2636A:p.R879Q	.	197	1307	16	2	0	20	0.00759301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.521	.	7.7e-05	0.00199681	0.0016	0.0002	0	0	0	9.17e-05	0.0011	0.0109	0.0013001	201	154602	rs146856523	0.0008	0.0008	0.0005	0.0011	0.0110	0.0008	0.0008	0.0104	0.0101	0.0002	2.237e-05	0	2.519e-05	0	0.0017	0.0001	0.0009	0.0110	0.0004	0.0004	0.0003	0.0005	0.0077	0.0003	0.0003	0.0057	0.0050	0.0001	0	0.0001	0	0	0	0	0.0002	0.0005	0.0077	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.84	0.60170	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.93	0.23535	L	0.05	0.61923	T	-3.46	0.67705	D	0.708	0.71143	-0.5120	0.68214	T	0.254	0.62405	T	10	0.010058045	0.00225	T	.	.	.	0.521	0.79643	.	.	0.760757338396	0.75857	0.7071151327060884	0.70653	0.781716362587	0.65334	0.516299307346	0.41105	T	0.427694	0.77708	T	-0.142486	0.29495	T	0.0319476	0.72404	D	0.103891183652948	0.12779	T	0.935906	0.76011	D	0.9257334	0.93811	0.84035295	0.90861	0.9257334	0.93812	0.84035295	0.90862	-9.541	0.71114	D	.	.	0.127	0.27131	B	.	.	5.829453	0.93732	33	0.99942727056674263	0.99848	0.99171	0.92276	D	AEFDBI	0.890407	0.82541	D	0.640841446732757	0.75777	6.366346	0.681327850170004	0.80961	7.417076	0.999999990208952	0.74766	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	4.93	4.93	0.64394	10.003000	0.99689	8.670000	0.78005	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.918000	0.45347	0.0:0.0:1.0:0.0	16.866	0.85895	888	0.27761	Serine-threonine/tyrosine-protein kinase, catalytic domain|Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.015152	0.1429	119.55	36	chr1	22600995	.	G	A	119.55	.	AC=2;AF=0.143;AN=14;DP=220;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=23.91;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,5:5:15:140,15,0	6	1	0	0
chr1	23429924	23429924	T	C	exonic	ASAP3	.	nonsynonymous SNV	ASAP3:NM_001143778:exon24:c.A2617G:p.I873V,ASAP3:NM_017707:exon25:c.A2644G:p.I882V	.	429	1082	10	1	0	12	0.00551471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00360599328291	0.0003	0.000599042	0.0007	0	0.0002	0	0	0.0007	0.0012	0.0020	0.0006274	97	154602	rs200298634	0.0006	0.0006	0.0006	0.0007	0.0017	0.0006	0.0006	0.0015	0.0014	5.976e-05	0.0001	0	0	3.747e-05	0.0005	0.0007	0.0006	0.0017	0.0004	0.0004	0.0004	0.0004	0.0017	0.0003	0.0003	0.0008	0.0006	0.0001	0	0.0003	0	0	0	0.0034	0.0007	0	0.0017	0.323	0.13436	T	0.682	0.11004	T	0.0	0.02946	B	0.0	0.04355	B	0.058456	0.22401	N	0.432130	1	0.08975	N	-0.345	0.03330	N	2.2	0.50192	T	-0.09	0.12472	N	0.015	0.00372	-1.0530	0.13574	T	0.038	0.16290	T	10	0.0033171177	0.00057	T	0.003606	0.08247	T	0.021	0.04004	.	.	0.0666544352282	0.05500	0.05752855155460795	0.05693	0.185131698341	0.20815	0.285421729088	0.08260	T	0.003864	0.10257	T	-0.697368	0.00038	T	-0.781761	0.02400	T	0.0245197020729528	0.01211	T	.	.	.	0.016973324	0.00236	0.0239171	0.00405	0.016973324	0.00235	0.0239171	0.00405	-2.048	0.04254	T	.	.	0.076	0.10256	B	.;.;.;.	.;.;.;.	0.070159	0.04788	1.401	0.25102162823959401	0.01141	0.09895	0.15545	N	AEFDBI	0.058194	0.10901	N	-1.52000102078979	0.01718	0.07520685	-1.47473900628457	0.02553	0.1176181	0.673488405399345	0.22400	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.63	-4.73	0.03022	-0.177000	0.09789	-0.061000	0.12424	-0.627000	0.04526	0.720000	0.28821	0.030000	0.21233	0.858000	0.40661	0.3155:0.2432:0.0807:0.3606	1.397	0.02126	354	0.85282	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001014	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.1429	71.0	33	chr1	23429924	.	T	C	71.0	.	AC=2;AF=0.143;AN=14;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=23.67;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,3:3:9:89,9,0	6	1	0	0
chr1	25392026	25392026	C	G	exonic	RHCE	.	nonsynonymous SNV	RHCE:NM_001330430:exon4:c.G602C:p.R201T,RHCE:NM_020485:exon4:c.G602C:p.R201T,RHCE:NM_138618:exon4:c.G602C:p.R201T	Rh-null disease, amorph type (3)	422	1071	27	2	0	31	0.014266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00149342305908	0.0003	0.000599042	0.0002	0.0003	0	0	0	0.0002	0.0011	0.0003	0.000194	30	154602	rs141398055	0.0001	0.0002	0.0001	0.0002	0.0038	0.0001	0.0001	0.0026	0.0022	0.0005	8.945e-05	3.826e-05	2.519e-05	1.872e-05	0.0038	6.925e-05	0.0004	0.0008	0.0004	0.0006	0.0004	0.0003	0.0010	0.0003	0.0003	0.0008	0.0007	0.0010	0	0.0001	0	0.0002	0	0	0.0001	0.0005	0.0004	1.0	0.09236	T	0.511	0.11479	T	0.0	0.02946	B	0.002	0.06944	B	0.355312	0.04271	N	1.419120	1	0.08975	N	.	.	.	2.01	0.21291	T	1.28	0.01064	N	0.09	0.08366	-0.9463	0.41599	T	0.009	0.03403	T	10	0.011372298	0.00249	T	0.001493	0.02292	T	0.017	0.02790	.	.	0.0675242888579	0.06100	0.16438441148644187	0.16358	0.435991438937	0.43702	0.259397000074	0.04819	T	.	.	.	-0.53759	0.00346	T	-0.693831	0.06170	T	0.00728348726458671	0.00083	T	0.625137	0.24143	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.01367	B	.;.;.;.	.;.;.;.	-0.997177	0.00775	0.025	0.14596752121476211	0.00327	0.00226	0.01270	N	AEFBI	0.059444	0.11227	N	-1.99068234749651	0.00221	0.009494172	-1.98396137076601	0.00331	0.01461554	0.00356972976400403	0.10179	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	3.99	-7.76	0.01094	-0.843000	0.04457	-0.427000	0.09246	-0.729000	0.03740	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5986:0.2519:0.1494:0.0	6.936	0.23646	881	0.29269	Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.005035	0.000000	0.002717	0.008772	0.000000	0.000000	0.006098	0.011364	0.2143	7063.72	197	chr1	25392026	.	C	G	7063.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.824;DP=657;ExcessHet=1.1394;FS=1.116;MLEAC=3;MLEAF=0.214;MQ=59.54;MQRankSum=-1.64;QD=14.1;ReadPosRankSum=0.75;SOR=0.772	GT:AD:DP:GQ:PL	0/1:6,8:14:99:191,0,175	4	0	3	0
chr1	26328837	26328837	C	T	exonic	CRYBG2	.	nonsynonymous SNV	CRYBG2:NM_001039775:exon16:c.G4351A:p.E1451K	.	424	1094	3	1	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.528	0.124672393099	.	.	4.119e-05	0	8.64e-05	0.0005	0	0	0	0	3.23e-05	5	154602	rs758928498	4.241e-05	4.241e-05	4.084e-05	4.4e-05	0.0003	3.376e-05	3.065e-05	0.0001	0.0001	0	2.237e-05	0	0.0003	0	0	4.586e-05	0	0	1.973e-05	1.97e-05	1.285e-05	2.693e-05	0.0002	5.25e-06	2.46e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.94e-05	0	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.000004	0.62929	D	0.104471	0.999869	0.81001	D	.	.	.	.	.	.	.	.	.	0.709	0.71232	-0.0681	0.80821	T	0.542	0.83137	D	10	0.23047704	0.39999	T	0.124672	0.80607	D	0.528	0.80067	.	.	0.739935291395	0.73760	0.6497384068064385	0.64909	0.369375503011	0.38465	0.488458484411	0.37225	T	.	.	.	-0.0916083	0.37811	T	-0.0393641	0.67744	D	0.327776074409485	0.26136	T	0.909809	0.68205	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.827	0.80085	P	.;.;.	.;.;.	3.050602	0.40936	21.3	0.98256215517398382	0.39621	0.94129	0.60200	D	AEFBI	0.650073	0.62431	D	-0.418173159114811	0.24833	1.343638	-0.473232883521117	0.22894	1.245795	0.99407586973144	0.33476	0.661447	0.50134	0	0.547309	0.14657	0	0.644132	0.48003	0	0.564101	0.26826	0	.	.	5.03	3.15	0.35301	4.208000	0.58284	4.927000	0.46095	-0.896000	0.02358	1.000000	0.71638	1.000000	0.68203	0.577000	0.30821	0.0:0.7722:0.2278:0.0	17.736	0.88300	400	0.82730	Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin;.;Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	73.44	43	chr1	26328837	.	C	T	73.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.282;DP=243;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=-0.524;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,4:5:21:84,0,21	6	0	1	0
chr1	26773690	26773690	-	GCA	exonic	ARID1A	.	nonframeshift insertion	ARID1A:NM_006015:exon16:c.3977_3978insGCA:p.Q1334_R1335insQ,ARID1A:NM_139135:exon16:c.3977_3978insGCA:p.Q1334_R1335insQ	Coffin-Siris syndrome 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	237025	not_provided|Intellectual_disability,_autosomal_dominant_14|not_specified	MedGen:C3661900|MONDO:MONDO:0013819,MedGen:C3553247,OMIM:614607,Orphanet:1465|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0040	0.0024	0.0017	0.0039	0.0002	0.0015	0.0056	0.0183	0.0006531	17	26028	rs570962335	0.0028	0.0028	0.0023	0.0033	0.0181	0.0027	0.0027	0.0174	0.0171	0.0026	0.0014	0	0.0023	0.0004	0.0023	0.0018	0.0039	0.0181	0.0025	0.0026	0.0023	0.0028	0.0181	0.0023	0.0023	0.0150	0.0139	0.0033	0	0.0012	0	0.0044	0	0	0.0017	0.0029	0.0181	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	178.4	34	chr1	26773690	.	C	CGCA	178.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.054;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=0.549;SOR=0.883	GT:AD:DP:GQ:PL	0/1:7,5:12:99:189,0,279	6	0	1	0
chr1	35893699	35893699	T	C	exonic	AGO1	.	nonsynonymous SNV	AGO1:NM_001317123:exon5:c.T313C:p.F105L,AGO1:NM_012199:exon5:c.T538C:p.F180L	.	.	.	.	.	.	.	.	.	.	.	3410830	Neurodevelopmental_disorder_with_language_delay_and_behavioral_abnormalities,_with_or_without_seizures	MONDO:MONDO:0859531,MedGen:C5830365,OMIM:620292	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.568	0.0229606487875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.034	0.52727	D	1.0	0.90584	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.915	0.96218	H	2.46	0.14907	T	-5.06	0.84035	D	0.768	0.78262	-0.7202	0.59453	T	0.162	0.49847	T	10	0.89623165	0.88977	D	0.022961	0.45892	T	0.568	0.82403	0.779	0.90388	0.802232369921	0.80038	0.993201515706154	0.99316	3.04366087562	0.99282	0.878757357597	0.93792	D	0.62429	0.88270	D	0.185229	0.72523	D	0.0282919	0.72166	D	0.996070146560669	0.88617	D	0.987451	0.95727	D	0.9089342	0.92195	0.8528399	0.91695	0.9089342	0.92196	0.8528399	0.91695	-11.044	0.79899	D	.	.	1.000	0.99795	P	.;.	.;.	4.964515	0.82109	27.7	0.99864336740853044	0.94276	0.95648	0.65567	D	AEFBCI	0.891088	0.82672	D	0.912615693883797	0.92363	11.38088	0.873545015308619	0.94315	12.66482	0.999999999999918	0.74766	0.706548	0.73137	0	0.71359	0.82159	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.93	5.93	0.95888	7.822000	0.84804	7.856000	0.71202	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.374	0.83208	146	0.94180	Argonaute, linker 1 domain|Argonaute, linker 1 domain;Argonaute, linker 1 domain|Argonaute, linker 1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr1	35893699	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=198;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr1	39413312	39413312	C	T	exonic	KIAA0754	.	nonsynonymous SNV	KIAA0754:NM_015038:exon1:c.C3047T:p.P1016L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0104463683657	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1488582385	7.128e-07	6.841e-07	1.409e-06	0	9.234e-07	0	0	.	.	0	0	0	0	0	0	9.234e-07	0	0	1.372e-05	1.982e-05	2.673e-05	0	3.036e-05	2.28e-06	8.5e-07	5.04e-06	1.89e-06	0	0	0	0	0	0	0	3.036e-05	0	0	.	.	.	0.024	0.56640	D	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	0.116	0.10483	-1.0157	0.25110	T	0.047	0.20156	T	9	0.085321724	0.14392	T	0.010446	0.27001	T	0.012	0.01476	.	.	0.082315109003	0.07666	.	.	0.124617667741	0.14036	0.400497734547	0.25138	T	0.15428	0.49550	T	-0.215794	0.18571	T	-0.547749	0.17543	T	0.139229617109495	0.16209	T	0.607039	0.22875	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.26325	B	.;.	.;.	0.491678	0.08608	5.377	0.93923174758695671	0.23967	0.05872	0.11819	N	AEFDBI	0.052740	0.09441	N	-0.838064484052613	0.12346	0.601202	-0.880272394537612	0.12561	0.6468877	0.999692310363087	0.41870	0.722319	0.85440	0	0.379588	0.06130	0	0.696353	0.63694	0	0.735409	0.98432	0	.	.	4.25	2.35	0.28166	-1.327000	0.02789	-2.055000	0.04281	0.452000	0.21348	0.000000	0.06391	0.000000	0.08366	0.061000	0.16044	0.0:0.6787:0.0:0.3213	6.125	0.19391	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	25	chr1	39413312	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=140;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr1	40546752	40546752	T	-	exonic	ZNF684	.	stopgain	ZNF684:NM_152373:exon5:c.429delT:p.L144*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	42.4	34	chr1	40546751	.	AT	A	42.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=198;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.07;ReadPosRankSum=-1.834;SOR=0.693	GT:AD:DP:GQ:PL	0/1:4,2:6:53:53,0,124	6	0	1	0
chr1	46286105	46286105	G	C	exonic	LRRC41	.	nonsynonymous SNV	LRRC41:NM_006369:exon4:c.C752G:p.A251G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.529	0.0502187236679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.992	0.80445	D	0.000001	0.62929	D	0.000000	0.994772	0.42411	D	0.975	0.24501	L	-2.29	0.87591	D	-1.3	0.32590	N	0.484	0.69649	0.536	0.91051	D	0.684	0.89073	D	10	0.32958585	0.50209	T	0.050219	0.64147	D	0.529	0.80128	0.336	0.32491	0.450867454232	0.44710	0.34557122016846215	0.34471	1.58467069867	0.88449	0.727339863777	0.71118	T	0.021497	0.22303	T	0.188674	0.72841	D	0.03324	0.72488	D	0.811592184595306	0.47161	D	0.871313	0.60617	D	0.4854459	0.66229	0.5018189	0.71200	0.4854459	0.66230	0.5018189	0.71201	-3.715	0.19540	T	.	.	0.702	0.74875	P	.;.;.;.	.;.;.;.	4.783938	0.77568	26.7	0.99716558432494762	0.81703	0.99303	0.94210	D	AEFDBHCIJ	0.793704	0.72163	D	0.594256688373689	0.72814	5.865534	0.6166461280718	0.76146	6.437944	1.0	0.98316	0.706548	0.73137	0	0.702456	0.74545	0	0.696144	0.63334	0	0.714379	0.83352	0	.	.	5.11	5.11	0.69188	6.894000	0.75474	11.796000	0.96513	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.624	0.91287	101	0.95833	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr1	46286105	.	G	C	33.22	.	AC=2;AF=0.143;AN=14;DP=213;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr1	77632391	77632393	CCA	-	exonic	ZZZ3	.	nonframeshift deletion	ZZZ3:NM_001376151:exon3:c.962_964del:p.V321del,ZZZ3:NM_001376147:exon4:c.962_964del:p.V321del,ZZZ3:NM_001376149:exon4:c.962_964del:p.V321del,ZZZ3:NM_001376153:exon4:c.962_964del:p.V321del,ZZZ3:NM_001376146:exon5:c.962_964del:p.V321del,ZZZ3:NM_001376148:exon5:c.962_964del:p.V321del,ZZZ3:NM_001376154:exon5:c.962_964del:p.V321del,ZZZ3:NM_015534:exon5:c.962_964del:p.V321del	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	.	8.238e-06	0	0	0	0	1.499e-05	0	0	2.59e-05	4	154602	rs757957314	3.831e-05	3.831e-05	3.675e-05	3.988e-05	0.0007	3.025e-05	2.719e-05	0.0002	0.0001	0	0	0	0	0	0.0007	3.687e-05	4.967e-05	9.275e-05	1.972e-05	1.97e-05	1.285e-05	2.691e-05	0.0004	5.24e-06	2.45e-06	7.282e-05	3.026e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	112.4	34	chr1	77632390	.	CCCA	C	112.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.15;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=28.1;ReadPosRankSum=0.319;SOR=0.916	GT:AD:DP:GQ:PL	0/1:1,3:4:33:123,0,33	6	0	1	0
chr1	84520657	84520657	G	A	exonic	SPATA1	.	nonsynonymous SNV	SPATA1:NM_001310156:exon3:c.G109A:p.V37I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1370809242	4.921e-06	5.472e-06	2.787e-06	7.095e-06	0.0002	2.05e-06	1.32e-06	1.34e-06	9.7e-07	3.135e-05	0	0	0	0	0.0002	4.571e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29456955	0.47028	T	.	.	.	.	.	.	.	.	.	0.04230899706024219	0.04175	.	.	0.488867014647	0.37281	T	.	.	.	.	.	.	.	.	.	.	.	.	0.670533	0.27914	T	0.09606745	0.22621	0.33015117	0.58887	0.09606745	0.22621	0.33015117	0.58887	-4.984	0.36666	T	.	.	0.126	0.26700	B	.	.	3.029277	0.40572	21.2	0.78751429399539785	0.12437	0.85366	0.44492	D	AEFGI	.	.	.	.	.	.	.	.	.	0.00285520026888768	0.09753	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.062806	0.01542	0	0.350147	0.36219	5.35	4.45	0.53365	3.803000	0.55264	4.452000	0.43426	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0737:0.1403:0.7859:0.0	10.815	0.45776	683	0.59664	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	67.44	33	chr1	84520657	.	G	A	67.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.792;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=2.19;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,4:7:72:78,0,72	6	0	1	0
chr1	88828501	88828501	A	G	exonic	PKN2	.	nonsynonymous SNV	PKN2:NM_001320707:exon18:c.A2296G:p.T766A,PKN2:NM_001320708:exon18:c.A1969G:p.T657A,PKN2:NM_001320709:exon19:c.A2392G:p.T798A,PKN2:NM_006256:exon19:c.A2440G:p.T814A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.0237290668082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.003	0.76473	D	0.105	0.25993	B	0.064	0.27215	B	0.061010	0.22205	U	0.257134	1	0.81001	D	0.74	0.18910	N	1.85	0.24472	T	-4.45	0.77881	D	0.693	0.87808	-1.0497	0.14481	T	0.038	0.16548	T	10	0.6690128	0.70599	D	0.023729	0.46702	T	0.339	0.66106	0.562	0.68229	0.816907722137	0.81518	0.6019331007001663	0.60124	1.13339230401	0.78694	0.823017835617	0.85490	D	0.285593	0.65838	T	0.103359	0.64653	D	-0.0893077	0.64214	T	0.96938419342041	0.68571	D	0.689231	0.29860	T	0.5339224	0.69053	0.50177974	0.71198	0.5339224	0.69054	0.50177974	0.71199	-11.145	0.83043	D	.	.	0.995	0.95627	P	.;.	.;.	4.289838	0.65412	24.8	0.99199525904477559	0.55231	0.98985	0.89557	D	AEFDBI	0.865335	0.78439	D	0.230177400171361	0.52667	3.439384	0.37420527466999	0.59978	4.180648	0.99996702178357	0.48965	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.94	4.94	0.64645	8.947000	0.92735	11.163000	0.87713	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.755	0.69171	885	0.28214	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	.	.	.	.	.	.	.	.	0.07143	69.44	33	chr1	88828501	.	A	G	69.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.319;DP=190;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.36;ReadPosRankSum=1.15;SOR=0.446	GT:AD:DP:GQ:PL	0/1:1,3:4:29:80,0,29	6	0	1	0
chr1	91273768	91273768	T	C	exonic	HFM1	.	nonsynonymous SNV	HFM1:NM_001017975:exon34:c.A3716G:p.D1239G	Premature ovarian failure 9, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.0129675626511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.17126	T	0.276	0.21947	T	0.001	0.07471	B	0.002	0.06944	B	0.995385	0.08002	N	0.997803	1	0.08975	N	1.01	0.25309	L	0.2	0.60111	T	-1.68	0.40082	N	0.194	0.21319	-0.9741	0.36323	T	0.022	0.09421	T	10	0.07139704	0.10519	T	0.012968	0.31999	T	0.060	0.17295	0.317	0.29419	0.195762928549	0.19159	0.13600838248376196	0.13524	0.0614077385657	0.06845	0.3179076612	0.13104	T	0.025247	0.18916	T	-0.0963176	0.37035	T	-0.37613	0.36174	T	0.0387190841138363	0.03461	T	0.566943	0.20077	T	0.097478	0.22978	0.099358685	0.23720	0.097478	0.22978	0.099358685	0.23719	-3.804	0.20864	T	.	.	0.074	0.05017	B	.	.	1.668697	0.21274	15.13	0.94057467928017013	0.24191	0.06785	0.12808	N	AEFBI	0.126535	0.24351	N	-0.508327220555235	0.21809	1.160179	-0.568825000469618	0.20308	1.093551	5.74634128277571E-4	0.07363	0.616025	0.39624	0	0.573888	0.26702	0	0.573888	0.23631	0	0.677038	0.66255	0	.	.	5.75	0.634	0.16889	-0.012000	0.12637	0.673000	0.20610	0.663000	0.56723	0.124000	0.23245	0.470000	0.25048	0.911000	0.44643	0.0:0.1606:0.2981:0.5413	4.951	0.13363	648	0.63242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr1	91273768	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr1	108830631	108830631	G	A	exonic	AKNAD1	.	nonsynonymous SNV	AKNAD1:NM_152763:exon10:c.C1766T:p.P589L	.	432	1084	6	0	0	6	0.00275989	.	.	.	3270529	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.038	0.00281259760208	.	0.000199681	2.473e-05	0	0	0	0	4.498e-05	0	0	2.59e-05	4	154602	rs544090925	6.157e-05	6.156e-05	6.534e-05	5.776e-05	0.0097	5.095e-05	4.715e-05	0.0077	0.0069	2.987e-05	4.472e-05	0	0	0	0.0097	1.079e-05	0.0002	5.797e-05	9.192e-05	9.186e-05	7.709e-05	0.0001	0.0005	5.524e-05	4.361e-05	0.0002	0.0002	0	0	0.0005	0	0	0	0.0068	4.409e-05	0.0005	0.0002	0.098	0.51248	T	0.135	0.39645	T	0.0	0.02946	B	0.001	0.04355	B	0.261313	0.03711	N	1.576760	1	0.08975	N	0	0.06538	N	3.13	0.09356	T	-0.62	0.38540	N	0.105	0.17691	-0.9662	0.37974	T	0.011	0.04181	T	10	0.03834945	0.02247	T	0.002813	0.05869	T	0.038	0.09825	0.098	0.01383	0.0611884634855	0.05136	0.0987826598328918	0.09809	0.0271512324795	0.02775	0.256449729204	0.04477	T	0.003107	0.02504	T	-0.449691	0.01134	T	-0.776069	0.02574	T	0.0148241505744961	0.00312	T	0.649435	0.26018	T	0.023517301	0.01098	0.032161623	0.01911	0.023517301	0.01097	0.032161623	0.01911	-3.28	0.14378	T	.	.	0.076	0.12844	B	.;.;.	.;.;.	0.709971	0.10788	7.473	0.97043330843470144	0.32121	0.00946	0.03649	N	ALL	0.051654	0.09146	N	-1.13319259960056	0.06061	0.2780069	-1.16249738013427	0.06546	0.3154459	1.0	0.98316	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.273489	0.05413	2	.	.	4.05	0.975	0.18841	0.376000	0.20265	-0.548000	0.08544	-0.135000	0.12811	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1048:0.3376:0.5576:0.0	6.165	0.19600	858	0.34001	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.000000	0.000000	0.020468	0.000000	0.017241	0.000000	0.000000	0.07143	105.44	36	chr1	108830631	.	G	A	105.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.803;DP=213;ExcessHet=0;FS=7.068;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=0.992;SOR=0.61	GT:AD:DP:GQ:PL	0/1:3,5:8:94:116,0,94	6	0	1	0
chr1	109002314	109002314	T	C	exonic	WDR47	.	nonsynonymous SNV	WDR47:NM_001142550:exon7:c.A1367G:p.Q456R,WDR47:NM_001142551:exon7:c.A1343G:p.Q448R,WDR47:NM_014969:exon7:c.A1346G:p.Q449R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.0167785656538	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1400118891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.566e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.038	0.51421	D	0.651	0.40707	P	0.084	0.35248	B	0.000004	0.62929	D	0.062472	0.995762	0.45735	D	2.045	0.56016	M	0.39	0.57419	T	-0.91	0.24898	N	0.584	0.60495	-1.1052	0.03517	T	0.047	0.20116	T	10	0.30706525	0.48212	T	0.016779	0.38196	T	0.178	0.44724	0.307	0.27806	0.204265027416	0.20035	0.4340355192986864	0.43320	0.95220496257	0.72685	0.78901553154	0.80292	T	0.044472	0.26826	T	0.0105779	0.53103	T	-0.222582	0.52488	T	0.932683229446411	0.59891	D	0.960504	0.85148	D	0.25288716	0.48307	0.30775508	0.56796	0.25288716	0.48307	0.30775508	0.56795	-3.198	0.12456	T	.	.	0.199	0.59584	B	.;.;.;.;.	.;.;.;.;.	4.049741	0.60023	24.2	0.99673062148681291	0.78717	0.97342	0.74144	D	AEFDBI	0.814251	0.73652	D	0.0167267406948553	0.42615	2.571109	0.128922204859954	0.46036	2.856217	0.0819860699239755	0.15888	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	4.99	3.83	0.43287	7.149000	0.76985	7.894000	0.73204	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1405:0.0:0.0:0.8595	10.950	0.46538	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	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr1	109002314	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=195;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr1	109717382	109717382	C	T	exonic	GSTM5	.	stopgain	GSTM5:NM_000851:exon8:c.C613T:p.R205X	.	416	1104	2	0	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000798722	0.0004	0	0.0004	0.0015	0	0.0003	0.0011	6.056e-05	0.0003428	53	154602	rs181150599	0.0001	0.0001	0.0002	0.0001	0.0013	0.0001	0.0001	0.0010	0.0009	2.987e-05	0.0003	0.0012	0.0013	0	0.0010	6.925e-05	0.0004	8.116e-05	0.0002	0.0002	0.0002	0.0003	0.0017	0.0002	0.0002	0.0009	0.0007	0.0002	0	0.0001	0.0009	0.0017	0	0.0102	0.0002	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.018214	0.27535	U	0.269330	0.865653	0.38394	D	.	.	.	.	.	.	.	.	.	0.371	0.43126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0499129	0.58332	T	0.268841	0.86509	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	6.054662	0.94449	34	0.73518488235504231	0.10357	0.12005	0.17000	N	AEFDBI	0.094279	0.19065	N	-0.0578755537773104	0.39250	2.311686	-0.470276596555243	0.22978	1.250726	0.999937884493131	0.46732	0.516011	0.20929	0	0.588066	0.40923	0	0.577349	0.28860	0	0.613276	0.41899	0	.	.	5.42	-3.8	0.04025	0.069000	0.14419	-1.599000	0.05088	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.4561:0.2822:0.1123:0.1494	2.460	0.04262	629	0.65079	Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.009511	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	141.44	34	chr1	109717382	.	C	T	141.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.15;DP=219;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.68;ReadPosRankSum=0.566;SOR=0.799	GT:AD:DP:GQ:PL	0/1:3,5:8:61:152,0,61	6	0	1	0
chr1	110451232	110451232	C	T	exonic	PROK1	.	stopgain	PROK1:NM_032414:exon1:c.C16T:p.R6X	.	412	1108	2	0	0	2	0.000901713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000199681	8.238e-05	0.0004	0.0003	0	0	4.495e-05	0	0	7.76e-05	12	154602	rs187548600	5.609e-05	5.678e-05	6.126e-05	5.088e-05	0.0003	4.61e-05	4.236e-05	0.0002	0.0002	0.0002	0.0003	0	0	0	0.0002	3.957e-05	0.0002	0	0.0002	0.0002	0.0001	0.0003	0.0010	0.0001	0.0001	0.0007	0.0005	0.0002	0	0.0010	0	0	0	0	4.411e-05	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	0.600221	0.05642	N	1.205260	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.273	0.30914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166258	0.70779	D	0.280476	0.87149	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	6.178003	0.94733	34	0.99531691924212806	0.69901	0.07013	0.13040	N	AEFDGBI	0.051670	0.09152	N	0.171931065197097	0.49854	3.181335	-0.140985303755173	0.33756	1.934366	0.991178699986803	0.32398	0.446893	0.09132	0	0.563428	0.19063	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	5.67	3.74	0.42108	0.581000	0.23520	0.117000	0.14863	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.174000	0.21107	0.3189:0.6811:0.0:0.0	11.329	0.48703	860	0.33753	Prokineticin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	175.44	34	chr1	110451232	.	C	T	175.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.15;DP=229;ExcessHet=0;FS=2.276;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-0.564;SOR=0.959	GT:AD:DP:GQ:PL	0/1:6,8:14:99:186,0,128	6	0	1	0
chr1	111477654	111477654	G	A	exonic	C1orf162	.	nonsynonymous SNV	C1orf162:NM_001300835:exon4:c.G119A:p.R40Q,C1orf162:NM_174896:exon5:c.G206A:p.R69Q	.	423	1095	4	0	0	4	0.00182315	.	.	.	2375485	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.00653380084581	0.0002	.	0.0005	0	0.0006	0	0	0.0005	0.0022	0.0007	0.0003881	60	154602	rs371937009	0.0003	0.0003	0.0002	0.0003	0.0070	0.0002	0.0002	0.0053	0.0047	6.156e-05	0.0005	0.0015	2.695e-05	0	0.0070	0.0002	0.0005	0.0005	0.0003	0.0003	0.0002	0.0004	0.0011	0.0002	0.0002	0.0007	0.0005	5.461e-05	0	0.0011	0.0012	0	0	0	0.0003	0.0021	0.0002	0.038	0.42783	D	0.387	0.15650	T	0.005	0.12996	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.5	0.55608	T	-1.03	0.27052	N	0.104	0.08786	-1.0124	0.26165	T	0.026	0.11176	T	9	0.008251041	0.00187	T	0.006534	0.17215	T	0.019	0.03383	.	.	0.0482279557977	0.04254	0.059782277741769585	0.05918	0.21243972254	0.23743	.	.	.	0.005925	0.05364	T	-0.539092	0.00339	T	-0.644552	0.09340	T	0.00706290577497173	0.00080	T	0.389261	0.09643	T	0.03938431	0.05427	0.048426673	0.07190	0.03938431	0.05427	0.048426673	0.07190	-3.658	0.18700	T	.	.	0.100	0.16973	B	.	.	0.162320	0.05527	1.988	0.93298694333692944	0.23009	0.01699	0.05405	N	AEFDBI	0.058359	0.10943	N	-1.11786240616527	0.06325	0.2908614	-1.14919607702632	0.06782	0.3276431	0.999627337288244	0.41093	0.600919	0.35232	0	0.596877	0.49441	0	0.624306	0.44879	0	0.613276	0.41899	0	.	.	4.27	-0.936	0.09889	-0.328000	0.07988	1.466000	0.26718	-0.104000	0.15758	0.000000	0.06391	0.007000	0.19602	0.038000	0.14061	0.4141:0.1742:0.4116:0.0	4.097	0.09470	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	0.007049	0.010101	0.006793	0.011696	0.000000	0.008621	0.003049	0.000000	0.07143	59.44	35	chr1	111477654	.	G	A	59.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.38;DP=232;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=0.674;SOR=0.105	GT:AD:DP:GQ:PL	0/1:2,2:4:57:70,0,57	6	0	1	0
chr1	112712015	112712015	G	A	exonic	PPM1J	.	nonsynonymous SNV	PPM1J:NM_005167:exon5:c.C883T:p.R295W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.0200678011105	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1428637882	6.856e-06	7.525e-06	6.815e-06	6.897e-06	0.0001	3.47e-06	2.53e-06	3.354e-05	1.985e-05	0	0	0	0.0001	0	0	3.604e-06	0	2.329e-05	1.315e-05	1.314e-05	2.57e-05	0	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.471e-05	0	0	0.054	0.38633	T	0.032	0.59732	D	0.999	0.77913	D	0.877	0.64886	P	0.002564	0.36316	N	0.302755	0.982171	0.39861	D	2.27	0.64531	M	2.24	0.17923	T	-3.36	0.66549	D	0.333	0.38027	-1.0828	0.06814	T	0.060	0.25127	T	10	0.42089292	0.56856	T	0.020068	0.42586	T	0.139	0.37390	0.385	0.40460	0.507510703362	0.50389	0.7335583557087396	0.73300	0.373526394389	0.38820	0.460586249828	0.33390	T	0.25357	0.62410	T	-0.195747	0.21420	T	-0.418324	0.31268	T	0.959035098552704	0.65428	D	0.765923	0.89615	T	0.27419984	0.50486	0.16901821	0.38905	0.27419984	0.50486	0.16901821	0.38904	-8.465	0.64197	D	.	.	0.114	0.26294	B	.;.	.;.	4.505017	0.70489	25.5	0.99897964174082776	0.97048	0.74437	0.36415	D	AEFBI	0.811859	0.73473	D	0.332258639264669	0.57812	3.950041	0.259260591791884	0.53176	3.488038	0.884062035725623	0.25687	0.643511	0.44296	0	0.588066	0.40923	0	0.688494	0.62686	0	0.655142	0.61905	0	.	.	5.49	2.42	0.28720	1.286000	0.32877	3.923000	0.40484	0.676000	0.76740	0.882000	0.31029	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.505:0.495	14.628	0.68238	884	0.28482	PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	203.19	35	chr1	112712015	.	G	A	203.19	.	AC=2;AF=0.143;AN=14;DP=220;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=29.03;SOR=0.941	GT:AD:DP:GQ:PL	1/1:0,7:7:21:224,21,0	6	1	0	0
chr1	119755490	119755490	G	C	exonic	HMGCS2	.	nonsynonymous SNV	HMGCS2:NM_001166107:exon5:c.C998G:p.S333C,HMGCS2:NM_005518:exon6:c.C1124G:p.S375C	HMG-CoA synthase-2 deficiency, Autosomal recessive	0	1504	18	0	0	18	0.00594845	.	.	.	276465	not_provided|3-hydroxy-3-methylglutaryl-CoA_synthase_deficiency|not_specified	MedGen:C3661900|MONDO:MONDO:0011614,MedGen:C2751532,OMIM:605911,Orphanet:35701|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.578	.	0.0004	0.00399361	0.0019	0.0002	0.0003	0	0	0.0002	0.0011	0.0127	0.0016753	259	154602	rs151328418	0.0010	0.0010	0.0006	0.0013	0.0128	0.0009	0.0009	0.0122	0.0120	0.0002	8.944e-05	7.652e-05	2.519e-05	0	0.0026	0.0002	0.0010	0.0128	0.0006	0.0006	0.0004	0.0009	0.0141	0.0005	0.0005	0.0114	0.0104	7.219e-05	0	0.0002	0	0	9.42e-05	0	0.0003	0.0009	0.0141	0.011	0.55530	D	0.017	0.60337	D	1.0	0.90584	D	0.998	0.88582	D	0.001595	0.38554	N	0.185657	0.999968	0.52935	D	2.23	0.63091	M	-1.17	0.78199	T	-2.28	0.50830	N	0.864	0.86404	0.076	0.83737	D	0.542	0.83122	D	10	0.013461292	0.00285	T	.	.	.	0.578	0.82968	.	.	0.914753015564	0.91389	0.47170183242617564	0.47089	0.509296270345	0.49072	0.528510212898	0.42824	T	0.541205	0.84295	D	-0.137979	0.30211	T	0.0400577	0.72932	D	0.0623311034081158	0.07531	T	0.854615	0.54143	D	0.6254988	0.74057	0.3769495	0.62805	0.57394576	0.71278	0.4756891	0.69618	-9.718	0.72699	D	0.24168275128639305	0.32738	0.171	0.38080	B	.;.	.;.	4.130297	0.61802	24.4	0.98637468825228192	0.44001	0.99315	0.94380	D	AEFGBI	0.972460	0.99427	D	0.730189148890773	0.81611	7.563106	0.679394563703988	0.80818	7.383954	0.999999999996283	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.57	5.57	0.84021	9.401000	0.96640	8.246000	0.76856	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.030000	0.13115	0.0:0.0:1.0:0.0	17.401	0.87350	786	0.46839	Hydroxymethylglutaryl-coenzyme A synthase C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	98.44	36	chr1	119755490	.	G	C	98.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.24;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=-0.816;SOR=1.609	GT:AD:DP:GQ:PL	0/1:4,4:8:75:109,0,75	6	0	1	0
chr1	150471550	150471550	G	A	exonic	RPRD2	.	nonsynonymous SNV	RPRD2:NM_001297673:exon10:c.G2524A:p.E842K,RPRD2:NM_001297674:exon10:c.G2524A:p.E842K,RPRD2:NM_015203:exon11:c.G2602A:p.E868K	.	434	1068	20	0	0	20	0.00927644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	.	0.0005	0.029353	0.0140	0.0006	0.0271	0.0282	0.0006	0.0007	0.0078	0.0648	0.0126712	1959	154602	rs117341696	0.0060	0.0060	0.0045	0.0076	0.0633	0.0059	0.0059	0.0619	0.0613	0.0005	0.0256	0.0001	0.0341	0.0006	0.0019	0.0003	0.0065	0.0633	0.0057	0.0057	0.0044	0.0070	0.0740	0.0054	0.0052	0.0676	0.0651	0.0013	0	0.0189	0	0.0254	0.0003	0	0.0004	0.0028	0.0740	0.002	0.72154	D	0.116	0.36497	T	0.89	0.48942	P	0.288	0.40614	B	0.001443	0.38980	N	0.222920	0.998188	0.44603	D	0.805	0.20218	L	0.57	0.54347	T	-1.0	0.27052	N	0.236	0.26596	-0.9750	0.36125	T	0.076	0.30397	T	10	0.0025286674	0.00038	T	.	.	.	0.197	0.47942	.	.	.	.	0.48136191013942814	0.48056	0.328683231813	0.34977	0.547893047333	0.45560	T	0.025186	0.18883	T	-0.352343	0.04581	T	-0.231779	0.51600	T	0.0163060505370103	0.00401	T	0.931607	0.74605	D	0.21636108	0.44092	0.1879626	0.42059	0.21636108	0.44092	0.1879626	0.42058	-4.72	0.33645	T	.	.	0.329	0.55131	B	.;.	.;.	4.006442	0.59070	24.1	0.99628278899891676	0.75898	0.98280	0.81214	D	AEFBI	0.622922	0.60706	D	0.378744496772732	0.60271	4.214338	0.487693414964798	0.67173	5.048747	0.999997305226402	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	6.621000	0.74096	9.986000	0.82954	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.202	0.93699	98	0.95963	.;.	.	.	.	.	rs117341696	Uncertain significance	0	0	0	0	0	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	0.000000	0.008772	0.000000	0.000000	0.003049	0.037879	0.07143	218.44	33	chr1	150471550	.	G	A	218.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.15;DP=222;ExcessHet=0;FS=2.363;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.6;ReadPosRankSum=0.129;SOR=1.288	GT:AD:DP:GQ:PL	0/1:5,9:14:99:229,0,99	6	0	1	0
chr1	152155538	152155573	AACTCTGGCCTTGTCTGTCTGTCTGACCATAGTGGG	-	exonic	RPTN	.	nonframeshift deletion	RPTN:NM_001122965:exon3:c.1526_1561del:p.S509_S520del	.	1	224	1	0	0	1	0.00222717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.315e-06	0	0	0	0	1.508e-05	0	0	3.84e-05	1	26028	rs749387317	1.41e-06	1.368e-06	1.404e-06	1.416e-06	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.498e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	518.4	159	chr1	152155537	.	AAACTCTGGCCTTGTCTGTCTGTCTGACCATAGTGGG	A	518.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.405;DP=1316;ExcessHet=0;FS=2.736;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-0.041;SOR=0.764	GT:AD:DP:GQ:PL	0/1:28,16:44:99:529,0,1039	6	0	1	0
chr1	152220343	152220343	C	T	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G1286A:p.R429H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00122739519306	0.0005	0.000199681	0.0003	0.0002	0.0002	0.0002	0	0.0004	0	0.0004	0.0002846	44	154602	rs141454792	0.0004	0.0004	0.0003	0.0004	0.0029	0.0003	0.0003	0.0025	0.0023	2.988e-05	0.0002	7.656e-05	0.0029	0.0001	0.0007	0.0003	0.0003	0.0007	0.0002	0.0002	0.0003	0.0002	0.0006	0.0002	0.0001	0.0002	0.0002	4.827e-05	0	0.0001	0.0003	0.0006	0	0.0068	0.0004	0	0.0002	0.626	0.05214	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.485	0.00059	N	3.76	0.03892	T	2.92	0.00152	N	0.052	0.02366	-0.9431	0.42121	T	0.002	0.00556	T	9	0.01396364	0.00294	T	0.001227	0.01633	T	0.009	0.00846	.	.	0.154104182512	0.14974	0.03022943121799319	0.02971	.	.	0.609022140503	0.54177	T	0.013645	0.11764	T	-0.673235	0.00053	T	-0.868573	0.00756	T	0.0955496728420258	0.11861	T	0.315568	0.06252	T	0.016984226	0.00236	0.033731356	0.02316	0.016984226	0.00236	0.033731356	0.02315	-5.165	0.38584	T	.	.	0.076	0.06024	B	.	.	-0.954714	0.00838	0.029	0.6986725522075582	0.09110	0.00030	0.00276	N	AEFBI	0.014312	0.00223	N	-1.65380542561	0.01019	0.0441823	-1.63359155828989	0.01463	0.06617795	1.17050691770943E-5	0.02871	0.553676	0.25195	0	0.588066	0.40923	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.48	-0.354	0.11965	-0.434000	0.07009	.	.	-2.263000	0.00333	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2174:0.0:0.7826	7.947	0.29157	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	226.44	151	chr1	152220343	.	C	T	226.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.89;DP=1356;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.59;ReadPosRankSum=-0.702;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,6:11:99:0|1:152220343_C_T:237,0,192:152220343	6	0	1	0
chr1	152303392	152303392	C	T	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G11494A:p.E3832K	Ichthyosis vulgaris, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	2809300	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.050	0.00118239604572	0.0005	.	0.0002	9.61e-05	0	0	0	0.0003	0	0	0.0001488	23	154602	rs139279364	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0	0	3.826e-05	0	0.0001	0	0.0002	0.0002	0	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.707e-05	0.0002	0.0002	2.415e-05	0	0	0.0003	0	0	0	0.0003	0	0	0.099	0.30656	T	.	.	.	0.979	0.59044	D	0.973	0.72923	D	.	.	.	.	1	0.08975	N	2.635	0.77114	M	3.78	0.03836	T	-0.46	0.14978	N	0.196	0.21580	-1.0046	0.28577	T	0.014	0.05513	T	9	0.11571953	0.21810	T	0.001182	0.01509	T	0.050	0.13987	.	.	0.264081493735	0.26024	0.04359030919084624	0.04304	.	.	0.277258872986	0.07113	T	0.011617	0.10339	T	-0.538192	0.00343	T	-0.700334	0.05808	T	0.08465226739645	0.10571	T	0.60194	0.22516	T	0.03995303	0.05612	0.052166972	0.08543	0.03995303	0.05611	0.052166972	0.08542	-7.901	0.60393	D	.	.	0.152	0.33619	B	.	.	0.901834	0.12757	9.276	0.96572681099660185	0.30304	0.00282	0.01521	N	AEFBI	0.026542	0.02011	N	-0.563095498906896	0.20074	1.05561	-0.901427149553324	0.12060	0.6182043	6.4730963016291E-5	0.04366	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.52	-3.49	0.04424	-1.171000	0.03223	.	.	0.544000	0.25403	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2478:0.6076:0.1446	6.583	0.21802	557	0.71576	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.000529	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	99.44	34	chr1	152303392	.	C	T	99.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.44;DP=343;ExcessHet=0;FS=2.452;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.52;ReadPosRankSum=0.266;SOR=0.188	GT:AD:DP:GQ:PL	0/1:14,4:18:99:110,0,389	6	0	1	0
chr1	152307612	152307612	T	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A7274C:p.E2425A	Ichthyosis vulgaris, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	2809348	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.058	0.00386313804632	0.0005	.	0.0002	9.61e-05	0	0	0	0.0003	0	0	0.0001423	22	154602	rs148955202	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0	0	3.826e-05	0	0.0001	0	0.0002	0.0002	0	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.261e-05	0.0002	0.0002	0	0	0	0.0003	0	0	0	0.0003	0	0	0.062	0.36912	T	.	.	.	0.779	0.44223	P	0.191	0.36391	B	.	.	.	.	1	0.08975	N	2.96	0.85114	M	4.69	0.01694	T	-0.23	0.10656	N	0.198	0.21839	-0.9320	0.43844	T	0.002	0.00769	T	9	0.066376776	0.09093	T	0.003863	0.09055	T	0.058	0.16647	.	.	0.356281029322	0.35234	0.09024846058425597	0.08957	.	.	0.232913732529	0.02190	T	0.014972	0.12647	T	-0.444747	0.01213	T	-0.567757	0.15655	T	0.0615408699773032	0.07409	T	0.446155	0.12501	T	0.075586475	0.17040	0.048691697	0.07286	0.075586475	0.17040	0.048691697	0.07286	-8.073	0.61567	D	.	.	0.186	0.40246	B	.	.	0.927955	0.13033	9.535	0.90344943556703805	0.19609	0.02639	0.07237	N	AEFBI	0.034189	0.04193	N	-0.589207196957557	0.19272	1.007291	-0.757147918437598	0.15546	0.8181796	1.25916639349012E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.55	0.823	0.17950	-1.437000	0.02525	.	.	0.560000	0.28382	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.2016:0.2218:0.0:0.5766	2.507	0.04364	562	0.71143	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001063	0.000000	0.000000	0.000000	0.000000	0.000000	0.006173	0.000000	0.07143	245.44	231	chr1	152307612	.	T	G	245.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.917;DP=2051;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=55.67;MQRankSum=1.85;QD=10.23;ReadPosRankSum=-0.527;SOR=0.473	GT:AD:DP:GQ:PL	0/1:14,10:24:99:256,0,317	6	0	1	0
chr1	152311534	152311534	T	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A3352C:p.I1118L	Ichthyosis vulgaris, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00231703527819	.	0.000798722	0.0009	0.0006	8.637e-05	0.0015	0.0047	0.0007	0.0011	0.0005	9.06e-05	14	154602	rs151140943	0.0006	0.0006	0.0006	0.0006	0.0010	0.0006	0.0005	0.0007	0.0006	0.0001	0.0003	3.826e-05	0.0010	0.0048	0.0002	0.0004	0.0008	0.0003	0.0010	0.0010	0.0007	0.0013	0.0031	0.0009	0.0008	0.0020	0.0016	0.0002	0	0.0002	0.0003	0.0031	0.0066	0	0.0007	0.0005	0.0006	0.71	0.04044	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.35	0.00085	N	4.74	0.01604	T	0.14	0.05405	N	0.067	0.03956	-0.9595	0.39274	T	0.000	0.00075	T	9	0.00555408	0.00123	T	0.002317	0.04479	T	0.006	0.00375	.	.	0.0666544352282	0.05500	0.0074878760501136754	0.00714	.	.	0.26697999239	0.05751	T	0.024666	0.18594	T	-0.726574	0.00025	T	-0.822617	0.01400	T	0.00718962237721429	0.00082	T	0.220878	0.02837	T	0.03923099	0.05378	0.033710513	0.02311	0.03923099	0.05378	0.033710513	0.02310	1.39	0.00091	T	.	.	0.079	0.07460	B	.	.	-0.767701	0.01172	0.056	0.5643010792063935	0.05550	0.00076	0.00525	N	AEFGBI	0.019781	0.00719	N	-2.92711555578255	0.00001	6.96606e-05	-2.91823907035089	0.00002	0.0001058525	0.999995189276895	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.46	-4.91	0.02857	-4.317000	0.00290	.	.	-3.686000	0.00066	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1011:0.4441:0.135:0.3198	3.371	0.06799	590	0.68897	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001589	0.000000	0.000000	0.000000	0.000000	0.000000	0.012270	0.000000	0.07143	359.44	231	chr1	152311534	.	T	G	359.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.205;DP=2065;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=52.55;MQRankSum=-2.856;QD=12.39;ReadPosRankSum=1.08;SOR=0.569	GT:AD:DP:GQ:PL	0/1:13,16:29:99:370,0,282	6	0	1	0
chr1	152351526	152351526	T	C	exonic	FLG2	.	nonsynonymous SNV	FLG2:NM_001014342:exon3:c.A6260G:p.H2087R	.	434	1048	40	0	0	40	0.0187266	.	.	.	2805939	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.024	.	0.0038	0.00479233	0.0068	0.0012	0.0097	0	0.0008	0.0057	0.0121	0.0187	0.0062677	969	154602	rs141384852	0.0066	0.0066	0.0059	0.0073	0.0319	0.0065	0.0065	0.0281	0.0267	0.0014	0.0071	0.0051	5.05e-05	0.0005	0.0319	0.0063	0.0071	0.0182	0.0043	0.0043	0.0047	0.0039	0.0132	0.0040	0.0039	0.0106	0.0096	0.0016	0.0011	0.0051	0.0029	0.0002	0.0009	0.0104	0.0059	0.0091	0.0132	0.064	0.36509	T	0.246	0.23984	T	0.015	0.17086	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	0.99	0.25021	L	1.18	0.37746	T	-1.78	0.42001	N	0.2	0.22098	-0.9826	0.34398	T	0.025	0.10777	T	9	0.00496462	0.00106	T	.	.	.	0.024	0.04979	.	.	0.132336055621	0.12781	0.05537557425557988	0.05478	0.212961028099	0.23803	0.307520180941	0.11533	T	0.006229	0.05666	T	-0.556913	0.00265	T	-0.558464	0.16521	T	0.00240712079536758	0.00025	T	0.310869	0.06046	T	0.049321175	0.08740	0.052928723	0.08818	0.049321175	0.08740	0.052928723	0.08818	-8.854	0.66752	D	.	.	0.131	0.28261	B	.	.	1.380453	0.17916	13.44	0.79875974500555302	0.12941	0.06125	0.12103	N	AEFBCI	0.036976	0.05012	N	-1.05045716834564	0.07579	0.3525285	-1.07817471328921	0.08131	0.398442	2.41949346052646E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.69	2.29	0.27658	0.107000	0.15212	.	.	-0.668000	0.04312	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.1717:0.0939:0.0:0.7344	4.430	0.10947	565	0.70868	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.027551	0.045455	0.019022	0.037975	0.100000	0.025862	0.018293	0.018939	0.07143	381.44	145	chr1	152351526	.	T	C	381.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.33;DP=1048;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-0.703;SOR=0.804	GT:AD:DP:GQ:PL	0/1:10,17:27:99:392,0,197	6	0	1	0
chr1	152664386	152664387	GT	-	exonic	LCE2D	.	frameshift deletion	LCE2D:NM_178430:exon2:c.281_282del:p.S94Rfs*27	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	49.4	34	chr1	152664385	.	AGT	A	49.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.967;DP=235;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=58.83;MQRankSum=0.253;QD=4.94;ReadPosRankSum=-1.593;SOR=0.169	GT:AD:DP:GQ:PL	0/1:8,2:10:60:60,0,330	6	0	1	0
chr1	152719934	152719934	C	T	exonic	C1orf68	.	nonsynonymous SNV	C1orf68:NM_001024679:exon1:c.C413T:p.S138F	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00263165170528	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1214888888	3.572e-06	3.42e-06	2.819e-06	4.345e-06	1.262e-05	1.05e-06	7.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.853e-06	3.441e-05	1.262e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.058	0.46182	T	.	.	.	.	.	.	0.479973	0.12177	N	0.706830	1	0.08975	N	.	.	.	1.86	0.24285	T	-1.96	0.45404	N	0.256	0.28965	-1.0561	0.12750	T	0.026	0.11087	T	10	0.14039296	0.26685	T	0.002632	0.05349	T	0.025	0.05312	0.173	0.07894	0.184867976434	0.18130	0.20818544504664566	0.20734	.	.	.	.	.	.	.	.	-0.289205	0.09716	T	-0.525421	0.19746	T	0.354126900434494	0.27180	T	0.506149	0.16021	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.32780	B	.	.	1.606671	0.20534	14.79	0.98721424156705473	0.45215	0.03809	0.09143	N	AEFBI	0.034486	0.04281	N	-0.458957804591828	0.23438	1.258614	-0.571456930458873	0.20239	1.089484	0.00583874782836862	0.11056	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.22	3.29	0.36801	0.596000	0.23744	.	.	0.599000	0.40250	0.003000	0.16062	0.027000	0.21108	0.030000	0.13115	0.0:0.8939:0.0:0.1061	8.553	0.32624	702	0.57624	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	140.44	34	chr1	152719934	.	C	T	140.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.016;DP=739;ExcessHet=0;FS=2.808;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=-2.823;SOR=1.108	GT:AD:DP:GQ:PL	0/1:4,6:10:99:151,0,105	6	0	1	0
chr1	152798136	152798136	C	A	exonic	LCE1D	.	stopgain	LCE1D:NM_178352:exon2:c.C342A:p.C114X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.467e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001619	0.38497	N	0.000000	0.740141	0.33813	D	.	.	.	.	.	.	.	.	.	0.079	0.05414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.522349	0.94964	D	0.512542	0.94890	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	5.985224	0.94262	34	0.98553007601441389	0.42871	0.61641	0.31544	D	AEFBI	0.084009	0.17023	N	0.588151230559307	0.72435	5.805238	0.338073403859829	0.57792	3.946395	1.9169900890813E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.93	1.98	0.25351	-0.378000	0.07503	.	.	0.580000	0.29708	0.887000	0.31133	0.040000	0.21562	0.040000	0.14268	0.0:0.6951:0.0:0.3049	7.209	0.25097	783	0.47268	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	35.34	34	chr1	152798136	.	C	A	35.34	.	AC=2;AF=0.2;AN=10;DP=149;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=53.03;QD=17.67;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	4	1	0	2
chr1	161525664	161525664	G	T	exonic	HSPA6	.	nonsynonymous SNV	HSPA6:NM_002155:exon1:c.G1006T:p.V336F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.00188071660749	0.0002	0.000399361	0.0002	0.0004	0.0010	0	0	0.0002	0.0023	0	0.000194	30	154602	rs417707	0.0001	0.0001	0.0001	0.0001	0.0008	0.0001	0.0001	0.0006	0.0005	8.962e-05	0.0008	3.826e-05	2.519e-05	1.873e-05	0.0002	0.0001	0.0002	5.799e-05	0.0003	0.0003	0.0003	0.0003	0.0007	0.0002	0.0002	0.0004	0.0003	0.0004	0	0.0007	0	0	0	0	0.0003	0.0005	0	0.0	0.91255	D	0.001	0.83351	D	0.798	0.44840	P	0.477	0.46994	P	0.064806	0.21926	U	0.220760	1	0.08975	N	4.08	0.97210	H	2.36	0.16089	T	-3.34	0.66325	D	0.486	0.52029	-1.0067	0.27943	T	0.059	0.24760	T	10	0.030601382	0.01188	T	0.001881	0.03299	T	0.116	0.32463	.	.	0.298403945805	0.29456	0.44376738541459615	0.44294	.	.	0.454389870167	0.32544	T	0.092176	0.38950	T	-0.377254	0.03242	T	-0.414377	0.31721	T	0.150707036509307	0.17160	T	0.30037	0.05618	T	0.6783182	0.76879	0.7197446	0.83454	0.6783182	0.76880	0.7197446	0.83455	-10.947	0.79367	D	.	.	0.833	0.78903	P	.	.	1.091388	0.14752	11.30	0.9902332680942435	0.50634	0.03290	0.08340	N	AEFBI	0.087080	0.17656	N	-0.326811390215654	0.28134	1.549242	-0.651519772175005	0.18178	0.9699505	0.998162078887007	0.36515	0.59774	0.34471	0	0.550933	0.16991	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	3.23	-1.77	0.07551	-0.093000	0.11077	-20.000000	0.00162	-0.194000	0.09177	0.000000	0.06391	0.000000	0.08366	0.690000	0.33838	0.3694:0.1726:0.2834:0.1746	0.585	0.00671	884	0.28482	Heat shock protein 70, 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	.	.	.	.	.	.	.	.	0.07143	112.44	37	chr1	161525664	.	G	T	112.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.508;DP=267;ExcessHet=0;FS=2.808;MLEAC=1;MLEAF=0.071;MQ=53.05;MQRankSum=-1.025;QD=11.24;ReadPosRankSum=0.7;SOR=0.662	GT:AD:DP:GQ:PL	0/1:5,5:10:99:123,0,153	6	0	1	0
chr1	162020019	162020019	G	A	exonic	OLFML2B	.	nonsynonymous SNV	OLFML2B:NM_001297713:exon2:c.C338T:p.S113L,OLFML2B:NM_001347700:exon2:c.C338T:p.S113L,OLFML2B:NM_015441:exon2:c.C338T:p.S113L	.	420	1098	4	0	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00980654753903	0.0002	0.000399361	0.0001	9.612e-05	0	0	0	0.0001	0	0.0004	0.0001294	20	154602	rs142774017	6.909e-05	6.909e-05	5.581e-05	8.25e-05	0.0004	5.779e-05	5.391e-05	0.0003	0.0003	0	2.236e-05	0	0	0	0.0002	5.665e-05	3.311e-05	0.0004	8.536e-05	8.53e-05	8.994e-05	8.057e-05	0.0008	4.954e-05	3.96e-05	0.0003	0.0002	9.621e-05	0	0.0001	0	0	0	0	4.411e-05	0	0.0008	0.001	0.78490	D	0.011	0.65728	D	0.867	0.47667	P	0.122	0.32387	B	.	.	.	.	0.974445	0.25491	N	1.5	0.37844	L	1.13	0.38556	T	-3.35	0.66436	D	0.447	0.50688	-1.0395	0.17465	T	0.037	0.15899	T	8	0.07872623	0.12583	T	0.009807	0.25586	T	0.033	0.08068	.	.	0.523806315272	0.52025	0.11773384793302144	0.11700	0.146180406376	0.16504	0.536189436913	0.43908	T	0.027123	0.34671	T	-0.377367	0.03236	T	-0.46932	0.25590	T	0.105599096562683	0.12962	T	0.889011	0.62120	D	0.18813284	0.40299	0.30978888	0.56992	0.18813284	0.40298	0.30978888	0.56991	-9.292	0.69557	D	.	.	0.122	0.30450	B	.;.	.;.	3.599088	0.50823	23.0	0.99822196071868152	0.90502	0.82207	0.41470	D	AEFGBI	0.407981	0.47984	N	0.0638791616716387	0.44782	2.746145	0.112114260497695	0.45168	2.784751	0.999999925935882	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.64	4.64	0.57399	1.842000	0.38891	8.238000	0.76846	0.676000	0.76740	0.931000	0.32310	1.000000	0.68203	0.149000	0.20271	0.0:0.0:0.8058:0.1942	10.450	0.43706	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	45.44	33	chr1	162020019	.	G	A	45.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.674;DP=217;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.57;ReadPosRankSum=-0.385;SOR=0.693	GT:AD:DP:GQ:PL	0/1:3,3:6:56:56,0,66	6	0	1	0
chr1	162300634	162300634	T	C	exonic	NOS1AP	.	nonsynonymous SNV	NOS1AP:NM_014697:exon4:c.T272C:p.L91P	.	.	.	.	.	.	.	.	0.0299	0.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.0116747726771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.12961	T	0.187	0.28764	T	0.956	0.54666	P	0.708	0.54437	P	0.034227	0.24796	N	0.359281	0.999998	0.81001	D	-0.345	0.03330	N	2.13	0.19588	T	-0.03	0.07444	N	0.432	0.47115	-1.0549	0.13066	T	0.023	0.09923	T	9	0.30358782	0.47890	T	0.011675	0.29526	T	0.164	0.42212	0.54	0.65161	0.533227312814	0.52972	0.6608802891410464	0.66025	2.0530260791	0.94348	0.63033926487	0.57193	T	0.109572	0.42356	T	-0.0525187	0.44063	T	-0.313216	0.43313	T	0.872241318225861	0.52212	D	0.435556	0.11926	T	0.3121336	0.53970	0.33423737	0.59252	0.3121336	0.53970	0.33423737	0.59251	-4.264	0.27669	T	.	.	0.125	0.26514	B	.	.	4.068433	0.60425	24.2	0.99188387962243507	0.54906	0.92884	0.56783	D	ALL	0.826827	0.74624	D	0.324342231323959	0.57400	3.907224	0.406097093718417	0.61942	4.401872	0.99999999819693	0.74766	0.554377	0.28877	0	0.563428	0.19063	0	0.459711	0.06710	0	0.567892	0.33627	0	.	.	5.18	5.18	0.71140	5.183000	0.64902	2.731000	0.34388	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	11.419	0.49214	917	0.20147	PTB/PI domain|PTB/PI domain|PTB/PI domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	24	chr1	162300634	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=203;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr1	167974997	167974997	T	-	exonic	DCAF6	.	frameshift deletion	DCAF6:NM_001198957:exon3:c.327delT:p.Y110Mfs*8,DCAF6:NM_001017977:exon4:c.420delT:p.Y141Mfs*8,DCAF6:NM_001198956:exon4:c.420delT:p.Y141Mfs*8,DCAF6:NM_001349773:exon4:c.420delT:p.Y141Mfs*8,DCAF6:NM_018442:exon4:c.420delT:p.Y141Mfs*8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	46.4	33	chr1	167974996	.	AT	A	46.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.834;DP=195;ExcessHet=0;FS=4.771;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.73;ReadPosRankSum=-1.111;SOR=0.039	GT:AD:DP:GQ:PL	0/1:4,2:6:57:57,0,132	6	0	1	0
chr1	175097446	175097446	G	A	exonic	TNN	.	nonsynonymous SNV	TNN:NM_022093:exon8:c.G1618A:p.D540N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00722726408197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.437	0.09346	T	0.478	0.21411	T	0.007	0.14184	B	0.05	0.25278	B	0.044195	0.23663	N	0.426155	1	0.08975	N	1.7	0.43825	L	0.41	0.57100	T	-1.17	0.29933	N	0.116	0.28028	-1.0122	0.26228	T	0.109	0.39415	T	10	0.057217658	0.06537	T	0.007227	0.19171	T	0.074	0.21613	0.36	0.36385	0.589254406313	0.58601	0.36356376524649753	0.36270	0.101460948195	0.11481	0.257430016994	0.04590	T	8.89E-4	0.00449	T	-0.293613	0.09277	T	-0.659531	0.08299	T	0.136263146996498	0.15949	T	0.678632	0.36245	T	0.03948883	0.05463	0.04373248	0.05508	0.03948883	0.05462	0.04373248	0.05508	-6.52	0.50441	T	.	.	0.087	0.10979	B	.;.	.;.	1.347555	0.17547	13.23	0.97139515987951708	0.32534	0.06659	0.12677	N	AEFDBI	0.060206	0.11427	N	-0.718599909100715	0.15500	0.7816406	-0.673177559965175	0.17633	0.9384645	0.00559338190027076	0.10987	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.63	2.77	0.31614	0.294000	0.18803	-0.351000	0.09744	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.830000	0.39126	0.3633:0.0:0.6367:0.0	8.674	0.33332	659	0.61982	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	54.44	33	chr1	175097446	.	G	A	54.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.369;DP=213;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.8;ReadPosRankSum=-2.1;SOR=0.307	GT:AD:DP:GQ:PL	0/1:5,3:8:65:65,0,189	6	0	1	0
chr1	182385520	182385520	T	G	exonic	GLUL	.	nonsynonymous SNV	GLUL:NM_001033044:exon6:c.A640C:p.M214L,GLUL:NM_001033056:exon6:c.A640C:p.M214L,GLUL:NM_002065:exon7:c.A640C:p.M214L	Glutamine deficiency, congenital, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.572	0.0525278862311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.31532	T	0.305	0.20037	T	0.018	0.17786	B	0.047	0.24832	B	0.000000	0.84330	D	0.037178	1	0.81001	D	2.12	0.58754	M	-1.98	0.85247	D	-1.45	0.35597	N	0.822	0.81857	-0.0439	0.81335	T	0.552	0.83611	D	10	0.59105885	0.66383	D	0.052528	0.65105	D	0.572	0.82629	0.578	0.70347	0.954907343674	0.95443	0.9299415835472273	0.92973	0.831366708963	0.67633	0.646636843681	0.59508	T	0.511304	0.82728	D	0.237617	0.77434	D	0.103544	0.77142	D	0.900239288806915	0.55271	D	0.939106	0.77081	D	0.5239121	0.68483	0.21265063	0.45744	0.5239121	0.68484	0.21265063	0.45743	-5.862	0.45110	T	0.2287642540445813	0.30941	0.336	0.55631	B	.;.;.;.;.	.;.;.;.;.	3.412309	0.47344	22.4	0.97392828754827865	0.33731	0.97100	0.72689	D	AEFBHCI	0.913258	0.87499	D	0.198842284450625	0.51144	3.297976	0.323333280848735	0.56914	3.85556	0.999999950272754	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.44	4.3	0.50540	7.554000	0.81159	4.126000	0.42002	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.079:0.0:0.921	10.582	0.44453	797	0.45241	Glutamine synthetase, catalytic domain|Glutamine synthetase, catalytic domain;Glutamine synthetase, catalytic domain|Glutamine synthetase, catalytic domain;Glutamine synthetase, catalytic domain|Glutamine synthetase, catalytic domain;Glutamine synthetase, catalytic domain|Glutamine synthetase, catalytic domain;Glutamine synthetase, catalytic domain|Glutamine synthetase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	67.22	33	chr1	182385520	.	T	G	67.22	.	AC=2;AF=0.143;AN=14;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=33.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:83,6,0	6	1	0	0
chr1	183140465	183140465	G	A	exonic	LAMC1	.	nonsynonymous SNV	LAMC1:NM_002293:exon27:c.G4535A:p.S1512N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.0167955934698	7.7e-05	0.000399361	0.0001	0	0.0006	0	0	0.0001	0	0	0.0001164	18	154602	rs183296150	9.58e-05	9.577e-05	9.532e-05	9.628e-05	0.0003	8.245e-05	7.785e-05	0.0002	0.0002	0	0.0003	0.0009	0	0	0.0003	8.095e-05	0.0002	0	9.858e-05	9.844e-05	7.715e-05	0.0001	0.0006	6.007e-05	4.88e-05	0.0003	0.0002	0	0	0.0006	0.0006	0	0	0	4.412e-05	0.0005	0	0.219	0.19023	T	0.428	0.13792	T	0.0	0.02946	B	0.002	0.06944	B	0.017271	0.27766	N	0.465046	0.887761	0.35885	D	0.975	0.24501	L	-1.21	0.78645	T	-0.7	0.19933	N	0.173	0.18512	-0.9477	0.41364	T	0.146	0.46950	T	10	0.02104652	0.00496	T	0.016796	0.38225	T	0.135	0.36572	.	.	0.472905930708	0.46918	0.43176696170740775	0.43093	0.0806794442068	0.09078	0.488483279943	0.37227	T	0.100596	0.40655	T	-0.407571	0.02063	T	-0.501257	0.22217	T	0.0127350104957643	0.00215	T	0.665033	0.27384	T	0.04686587	0.07914	0.06238948	0.12198	0.04686587	0.07914	0.06238948	0.12198	-2.991	0.10084	T	.	.	0.122	0.25592	B	.	.	1.412010	0.18276	13.65	0.9162189663490039	0.20907	0.78597	0.38801	D	AEFGBI	0.183304	0.31064	N	-0.548842707322533	0.20520	1.082323	-0.403983991095605	0.24880	1.364961	0.999901620843363	0.45458	0.730579	0.87903	0	0.743671	0.97443	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.31	0.225	0.14598	0.340000	0.19634	1.283000	0.25364	0.676000	0.76740	0.974000	0.34632	1.000000	0.68203	0.909000	0.44452	0.3743:0.0:0.6257:0.0	8.749	0.33765	584	0.69381	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	118.55	33	chr1	183140465	.	G	A	118.55	.	AC=2;AF=0.143;AN=14;DP=212;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=23.71;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,5:5:15:139,15,0	6	1	0	0
chr1	186676889	186676889	T	C	exonic	PTGS2	.	nonsynonymous SNV	PTGS2:NM_000963:exon6:c.A667G:p.T223A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00756017199274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.33091	T	0.075	0.42794	T	0.043	0.21573	B	0.03	0.21741	B	0.001035	0.40562	N	0.294107	0.617849	0.32678	D	2.75	0.80375	M	2.2	0.18570	T	-2.44	0.53420	N	0.128	0.12198	-0.9610	0.38993	T	0.078	0.30982	T	10	0.25429118	0.42807	T	0.00756	0.20060	T	0.089	0.25827	0.403	0.43408	0.630427430629	0.62740	0.475510225778038	0.47470	0.643019289568	0.57855	0.328764468431	0.14747	T	0.63286	0.88643	D	-0.155349	0.27479	T	-0.460924	0.26497	T	0.820370733737946	0.47800	D	0.954105	0.82551	D	0.22272857	0.44879	0.18982522	0.42350	0.22272857	0.44879	0.18982522	0.42349	-7.846	0.60016	D	.	.	0.164	0.36275	B	.	.	3.089235	0.41587	21.4	0.98611104408691308	0.43638	0.92232	0.55241	D	AEFBCI	0.382354	0.46427	N	0.0121921679277485	0.42410	2.554697	0.106862571276269	0.44898	2.762805	0.999720376767586	0.42220	0.722319	0.85440	0	0.573888	0.26702	0	0.618467	0.43123	0	0.735409	0.98432	0	.	.	5.51	4.38	0.52019	2.029000	0.40718	5.452000	0.48648	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.1417:0.0:0.0:0.8583	11.518	0.49783	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	.	.	.	.	.	.	.	.	0.1429	33.22	11	chr1	186676889	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=130;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr1	201209798	201209798	G	0	exonic	IGFN1	.	.	.	.	682	662	104	2	72	180	0.075419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	8971.27	183	chr1	201209798	.	G	*	8971.27	.	AC=1;AF=0.25;AN=4;BaseQRankSum=1.38;DP=1569;ExcessHet=0;FS=1.947;MLEAC=2;MLEAF=0.5;MQ=51.25;MQRankSum=-9.053;QD=26.16;ReadPosRankSum=-9.008;SOR=0.826	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,12:22:99:0|1:201209690_AGCAGGTTATAGGAAGGACTTGGGGGTTCCTGAGGGAATAGGTTCAGGAAGTAAGGCAGGTTTTAGGGATGGTTTAGGGGGTTCTGAAGAAATGGGGTCAGTGAATAAG_A:456,0,339:201209690	1	0	1	5
chr1	217774496	217774496	C	T	exonic	SPATA17	.	nonsynonymous SNV	SPATA17:NM_001375655:exon7:c.C682T:p.R228W,SPATA17:NM_138796:exon7:c.C682T:p.R228W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.0251522981211	.	.	4.956e-05	0	0.0003	0	0	3.005e-05	0	6.061e-05	5.17e-05	8	154602	rs768392685	4.242e-05	4.241e-05	3.54e-05	4.951e-05	0.0002	3.377e-05	3.065e-05	0.0001	0.0001	0.0001	0.0002	0	2.52e-05	1.873e-05	0	3.777e-05	1.656e-05	2.319e-05	1.315e-05	1.97e-05	2.571e-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	0.018	0.50676	D	0.012	0.63918	D	0.993	0.65571	D	0.528	0.48482	P	0.765633	0.09587	N	0.894418	1	0.08975	N	2.28	0.64929	M	0.81	0.48460	T	-2.78	0.58896	D	0.308	0.34767	-0.8624	0.51090	T	0.181	0.52874	T	10	0.12647781	0.24044	T	0.025152	0.48129	D	0.135	0.36572	.	.	0.191931220699	0.18833	0.3130328684571784	0.31216	0.114398664819	0.12898	0.237875714898	0.02602	T	0.060184	0.31317	T	-0.404324	0.02168	T	-0.508041	0.21517	T	0.288205474615097	0.24514	T	0.79742	0.44137	T	0.15765576	0.35512	0.12356756	0.29796	0.15765576	0.35512	0.12356756	0.29795	-5.817	0.44722	T	.	.	0.093	0.14062	B	.	.	4.218626	0.63791	24.6	0.9983414508459868	0.91542	0.19495	0.20683	N	AEFI	0.167737	0.29444	N	0.0689687537118001	0.45019	2.765604	-0.0356228272342286	0.38118	2.241279	4.71699142423209E-4	0.07095	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.45	5.45	0.79688	1.138000	0.31103	1.380000	0.26027	0.599000	0.40250	0.001000	0.13787	0.001000	0.17328	0.872000	0.41544	0.2719:0.7281:0.0:0.0	12.74	0.56620	768	0.49510	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr1	217774496	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr1	220761717	220761717	C	T	exonic	MTARC2	.	nonsynonymous SNV	MTARC2:NM_001317338:exon3:c.C506T:p.T169I,MTARC2:NM_001331042:exon3:c.C506T:p.T169I,MTARC2:NM_017898:exon3:c.C506T:p.T169I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.038503309495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.003	0.76473	D	0.991	0.73220	D	0.965	0.76457	D	0.002275	0.36887	N	0.232358	0.990291	0.41128	D	3.615	0.93875	H	2.16	0.19166	T	-5.06	0.83027	D	0.72	0.72209	-0.5765	0.65756	T	0.177	0.52131	T	10	0.94394475	0.93719	D	0.038503	0.58263	D	0.273	0.58883	0.835	0.94294	0.517104213562	0.51352	0.7665983862055217	0.76608	0.929494865286	0.71766	0.488572478294	0.37240	T	0.206825	0.56628	T	-0.0490393	0.44594	T	-0.308218	0.43850	T	0.963137500628639	0.66570	D	0.854215	0.54691	D	0.40384248	0.60997	0.48591194	0.70245	0.40384248	0.60998	0.48591194	0.70245	-10.681	0.77879	D	.	.	0.706	0.73186	P	.;.;.	.;.;.	3.225770	0.43974	21.8	0.99833315662400746	0.91456	0.76071	0.37282	D	AEFBI	0.617694	0.60378	D	0.313945732271386	0.56863	3.851886	0.184517936124973	0.48997	3.108501	0.353084430384048	0.19702	0.706548	0.73137	0	0.627178	0.54094	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.67	2.58	0.30011	1.334000	0.33433	1.732000	0.28335	-0.217000	0.08171	0.934000	0.32416	0.937000	0.28687	0.984000	0.60418	0.0:0.5828:0.4172:0.0	14.635	0.68284	583	0.69484	.;MOSC, N-terminal beta barrel;MOSC, N-terminal beta barrel	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	70.44	34	chr1	220761717	.	C	T	70.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=1.83;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,4:6:31:81,0,31	6	0	1	0
chr1	225272971	225272971	T	C	exonic	DNAH14	.	nonsynonymous SNV	DNAH14:NM_001367479:exon52:c.T7856C:p.L2619P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.329	0.162410845136	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1337087609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.009	0.57480	D	0.001	0.83351	D	1.0	0.90584	D	0.986	0.76916	D	.	.	.	.	0.997032	0.81001	D	.	.	.	0.61	0.53516	T	-5.59	0.86527	D	0.723	0.72477	-0.4258	0.71203	T	0.298	0.66914	T	8	0.7847483	0.78151	D	0.162411	0.84199	D	0.329	0.65126	0.625	0.76028	0.59904029974	0.59584	.	.	.	.	0.593789041042	0.52029	T	.	.	.	-0.0702996	0.41280	T	-0.338757	0.40484	T	0.987619815098272	0.78075	D	0.487251	0.14908	T	.	.	.	.	.	.	.	.	-11.334	0.81458	D	.	.	.	.	.	.;.	.;.	3.967637	0.58234	24.0	0.99888675044311481	0.96359	0.87100	0.46539	D	AEFBI	0.783330	0.71434	D	0.522040672957881	0.68396	5.21128	0.488785652105997	0.67244	5.058299	0.0174819780210259	0.12956	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.87	4.87	0.62877	4.694000	0.61446	7.511000	0.59621	0.620000	0.51751	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:0.0:1.0	13.733	0.62284	604	0.67577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr1	225272971	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr1	225988203	225988203	T	C	exonic	SDE2	.	nonsynonymous SNV	SDE2:NM_152608:exon6:c.A827G:p.H276R	.	427	1042	52	1	0	54	0.0252572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	.	0.0086	0.00579073	0.0077	0.0053	0.0058	0	0.0018	0.0090	0.0122	0.0117	0.007529	1164	154602	rs41268719	0.0088	0.0088	0.0086	0.0089	0.0321	0.0086	0.0086	0.0283	0.0268	0.0077	0.0067	0.0189	5.038e-05	0.0022	0.0321	0.0088	0.0102	0.0124	0.0078	0.0078	0.0079	0.0077	0.0101	0.0074	0.0073	0.0081	0.0079	0.0065	0.0088	0.0093	0.0222	0	0.0011	0.0238	0.0087	0.0137	0.0101	0.307	0.14159	T	0.548	0.09489	T	0.0	0.02946	B	0.0	0.01387	B	0.147789	0.02938	N	1.557430	1	0.08975	N	0	0.06538	N	1.02	0.40749	T	0.2	0.04861	N	0.061	0.03283	-1.0637	0.10855	T	0.031	0.13330	T	10	0.002553016	0.00039	T	.	.	.	0.004	0.00165	.	.	0.101711395817	0.09552	0.047153908634088824	0.04658	0.218815070265	0.24419	0.195133239031	0.00329	T	0.001554	0.00995	T	-0.708939	0.00032	T	-0.780087	0.02450	T	0.002145647428267	0.00022	T	0.120588	0.00931	T	0.019646542	0.00500	0.022527758	0.00275	0.019646542	0.00500	0.022527758	0.00275	-2.56	0.06205	T	.	.	0.060	0.00890	B	.	.	-0.802183	0.01102	0.050	0.10180873463326895	0.00122	0.07098	0.13124	N	AEFDBCI	0.035649	0.04624	N	-2.26443823681653	0.00055	0.002349059	-2.25596343358124	0.00084	0.003677418	0.999806860516576	0.43304	0.706548	0.73137	0	0.779548	0.99637	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.57	-5.89	0.02093	-0.785000	0.04735	-1.633000	0.05020	-1.597000	0.00898	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.243:0.2402:0.4357:0.0811	3.857	0.08487	754	0.51307	.	H3F3A	Colon_Transverse	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.026687	0.040404	0.028533	0.032164	0.000000	0.025862	0.015244	0.018939	0.07143	154.44	33	chr1	225988203	.	T	C	154.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.054;DP=228;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=2.67;SOR=0.814	GT:AD:DP:GQ:PL	0/1:9,7:16:99:165,0,223	6	0	1	0
chr1	226071457	226071457	G	A	exonic	H3-3A	.	nonsynonymous SNV	H3-3A:NM_002107:exon4:c.G389A:p.R130H,H3-3A:NM_001379043:exon5:c.G389A:p.R130H,H3-3A:NM_001379045:exon5:c.G389A:p.R130H,H3-3A:NM_001379046:exon5:c.G389A:p.R130H,H3-3A:NM_001379047:exon5:c.G389A:p.R130H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.383	0.0426107701734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.739e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.41913	T	0.001	0.07471	B	0.002	0.06944	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.53	0.73802	M	-0.91	0.75001	T	-2.72	0.57920	D	0.687	0.69300	-0.6403	0.63133	T	0.332	0.69919	T	9	0.42779562	0.57290	T	0.042611	0.60557	D	0.383	0.70029	.	.	0.963756557137	0.96336	0.9834881440895284	0.98340	2.22764064689	0.95911	0.88280916214	0.94336	D	0.184073	0.53661	T	0.240662	0.77723	D	0.107918	0.77434	D	0.982994854450226	0.74830	D	.	.	.	0.9201298	0.93261	0.8204727	0.89569	0.9201298	0.93262	0.8204727	0.89570	-11.874	0.84231	D	.	.	.	.	.	.;.;.	.;.;.	5.039124	0.83867	28.2	0.98932752489192832	0.48788	0.98221	0.80666	D	AEFBCI	0.915283	0.87984	D	0.291982467883368	0.55741	3.738277	0.487752188946655	0.67176	5.049263	0.999999999999826	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.83	5.83	0.93059	9.886000	0.98550	8.442000	0.77197	0.668000	0.69082	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.563	0.99337	671	0.60868	Histone H2A/H2B/H3;Histone H2A/H2B/H3;Histone H2A/H2B/H3	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	21	chr1	226071457	.	G	A	33.22	.	AC=2;AF=0.143;AN=14;DP=160;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=50.99;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr1	228317575	228317575	G	T	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon52:c.G13673T:p.R4558L,OBSCN:NM_052843:exon52:c.G13673T:p.R4558L,OBSCN:NM_001271223:exon63:c.G16544T:p.R5515L	.	0	1518	4	0	0	4	0.00131579	.	.	.	3208861	OBSCN-related_disorder	.	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.269	0.169933199859	.	.	0.0001	0	0.0004	0	0	0.0001	0	0.0002	0.0001294	20	154602	rs199865640	0.0001	0.0001	0.0001	0.0002	0.0073	0.0001	0.0001	0.0055	0.0049	0.0002	0.0002	3.828e-05	0	0	0.0073	0.0001	0.0003	5.797e-05	0.0001	0.0001	7.709e-05	0.0001	0.0001	6.514e-05	5.325e-05	4.765e-05	3.339e-05	7.24e-05	0	0.0001	0	0	0	0.0032	0.0001	0.0014	0	0.023	0.49613	D	0.007	0.74150	D	0.804	0.46346	P	0.28	0.44547	B	0.004811	0.33369	N	0.203573	0.999892	0.21065	N	-0.45	0.02807	N	0.35	0.58029	T	-3.57	0.68999	D	0.432	0.47115	-1.0525	0.13709	T	0.093	0.35444	T	10	0.17435962	0.32311	T	0.169933	0.84763	D	0.269	0.58381	0.686	0.82367	0.709025157765	0.70648	0.40191814811094595	0.40107	0.52810492468	0.50404	0.36813378334	0.20564	T	0.081939	0.36712	T	-0.226661	0.17092	T	-0.269872	0.47831	T	0.119033820724526	0.14335	T	0.873813	0.61653	D	0.21280643	0.43642	0.18529524	0.41634	0.21280643	0.43642	0.18529524	0.41633	-9.411	0.70304	D	.	.	0.389	0.58942	A	.;.;.;.;.	.;.;.;.;.	2.651702	0.34524	19.65	0.99499046577318984	0.67916	0.39410	0.26207	N	AEFBI	0.193041	0.32017	N	-0.0910956484286738	0.37783	2.203149	-0.0713779219091646	0.36579	2.130553	0.0282477798551693	0.13820	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.42	3.48	0.38946	1.741000	0.37862	3.155000	0.36543	0.616000	0.49467	0.246000	0.24809	0.996000	0.32793	0.576000	0.30797	0.3285:0.0:0.6715:0.0	5.492	0.16071	443	0.79878	.;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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.007056	0.010101	0.012228	0.011696	0.000000	0.000000	0.000000	0.000000	0.07143	157.44	38	chr1	228317575	.	G	T	157.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.465;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=22.49;ReadPosRankSum=-0.792;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,6:7:14:0|1:228317575_G_T:168,0,14:228317575	6	0	1	0
chr1	228317577	228317577	G	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon52:c.G13675A:p.V4559M,OBSCN:NM_052843:exon52:c.G13675A:p.V4559M,OBSCN:NM_001271223:exon63:c.G16546A:p.V5516M	.	.	.	.	.	.	.	.	.	.	.	2472577	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.509	0.411068390123	8e-05	.	2.532e-05	0	0	0	0	4.586e-05	0	0	2.59e-05	4	154602	rs368391837	2.532e-05	2.599e-05	2.995e-05	2.063e-05	3.148e-05	1.868e-05	1.631e-05	2.285e-05	2.023e-05	0	2.237e-05	0	0	0	0	3.148e-05	0	1.159e-05	1.314e-05	1.313e-05	1.285e-05	1.346e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.008	0.58626	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.000006	0.62929	D	0.000000	0.999988	0.54805	D	3.025	0.86340	M	-0.35	0.68616	T	-1.52	0.39314	N	0.429	0.46835	0.473	0.90158	D	0.600	0.85757	D	10	0.7873709	0.78362	D	0.411068	0.93599	D	0.509	0.78910	.	.	0.743235531803	0.74093	0.2667866224756007	0.26591	0.494608543549	0.48019	0.590969443321	0.51631	T	0.041863	0.25997	T	-0.0228257	0.48450	T	-0.140113	0.60109	T	0.896228015422821	0.54791	D	0.879112	0.59504	D	0.43658933	0.63182	0.40336645	0.64793	0.43658933	0.63182	0.40336645	0.64793	-10.182	0.75206	D	.	.	0.800	0.77264	P	.;.;.;.;.	.;.;.;.;.	4.296748	0.65572	24.8	0.99700274460607174	0.80591	0.97890	0.77901	D	AEFBI	0.679209	0.64331	D	0.795540790220026	0.85827	8.693558	0.678063774965472	0.80715	7.361261	0.999999983574481	0.74766	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.42	4.42	0.52775	5.924000	0.69776	11.419000	0.92710	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.573000	0.30723	0.0:0.0:1.0:0.0	17.215	0.86822	443	0.79878	.;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	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	58.44	38	chr1	228317577	.	G	A	58.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.366;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.35;ReadPosRankSum=0.431;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:69:0|1:228317575_G_T:69,0,204:228317575	6	0	1	0
chr1	228511918	228511918	G	A	exonic	BTNL10	.	nonsynonymous SNV	BTNL10:NM_001287262:exon2:c.C40T:p.P14S	.	427	1088	7	0	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	.	.	0.00239617	0.0061	0.0024	0.0041	0.0069	0	0.0041	0.0159	0.0127	0.0009314	144	154602	rs182509913	0.0025	0.0020	0.0023	0.0027	0.0223	0.0024	0.0024	0.0187	0.0173	0.0006	0.0031	0.0055	0.0077	0.0002	0.0223	0.0020	0.0039	0.0066	0.0024	0.0024	0.0020	0.0028	0.0072	0.0022	0.0021	0.0054	0.0048	0.0004	0	0.0062	0.0058	0.0052	0.0003	0.0170	0.0022	0.0057	0.0072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	140.44	42	chr1	228511918	.	G	A	140.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.56;DP=244;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.6;ReadPosRankSum=1.47;SOR=1.022	GT:AD:DP:GQ:PL	0/1:4,5:9:72:151,0,72	6	0	1	0
chr1	229595051	229595051	C	T	exonic	TAF5L	.	nonsynonymous SNV	TAF5L:NM_014409:exon5:c.G1016A:p.R339Q	.	428	1091	2	1	0	4	0.00182983	.	.	.	2285924	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.210	0.033324113518	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1488838334	1.302e-05	1.3e-05	1.635e-05	9.644e-06	0.0003	8.33e-06	6.71e-06	6.099e-05	2.524e-05	5.979e-05	2.24e-05	3.84e-05	7.566e-05	0	0.0003	7.204e-06	3.318e-05	0	3.286e-05	3.283e-05	1.285e-05	5.381e-05	2.939e-05	1.261e-05	7.98e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.939e-05	0.0010	0	0.269	0.16091	T	0.287	0.21210	T	0.6	0.39325	P	0.045	0.24526	B	0.000015	0.62929	D	0.110726	1	0.81001	D	0.775	0.19437	N	0.17	0.60485	T	-1.72	0.40850	N	0.758	0.75650	-0.9762	0.35860	T	0.113	0.40238	T	10	0.5507916	0.64244	D	0.033324	0.54903	D	0.210	0.50028	.	.	0.793628370406	0.79171	0.4924913021457778	0.49170	1.72895118267	0.90712	0.637177228928	0.58163	T	0.072382	0.34440	T	0.139642	0.68291	D	-0.0371903	0.67891	D	0.384416524196178	0.28352	T	0.893511	0.63097	D	0.10990373	0.25981	0.11211431	0.27048	0.10990373	0.25980	0.11211431	0.27047	-6.539	0.50586	T	.	.	0.097	0.16626	B	.;.	.;.	4.083024	0.60747	24.3	0.98542746703157513	0.42745	0.98899	0.88348	D	AEFDBI	0.858582	0.77612	D	0.0437623289340481	0.43856	2.670447	0.17506366424446	0.48486	3.06377	0.999999999999971	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.74	5.74	0.90070	7.898000	0.85965	4.832000	0.45208	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.0:1.0:0.0:0.0	19.920	0.97082	520	0.74355	WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	73.44	34	chr1	229595051	.	C	T	73.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.282;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=0;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,4:5:27:84,0,27	6	0	1	0
chr1	233328492	233328492	A	-	exonic	MAP3K21	.	frameshift deletion	MAP3K21:NM_032435:exon1:c.464delA:p.Q155Rfs*90	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	52.4	34	chr1	233328491	.	CA	C	52.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.73;ReadPosRankSum=0.341;SOR=0.693	GT:AD:DP:GQ:PL	0/1:4,2:6:63:63,0,143	6	0	1	0
chr1	235810105	235810105	A	-	exonic	LYST	.	stopgain	LYST:NM_000081:exon5:c.713delT:p.L238*,LYST:NM_001301365:exon5:c.713delT:p.L238*	Chediak-Higashi syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	37.4	35	chr1	235810104	.	TA	T	37.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.068;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.34;ReadPosRankSum=0;SOR=0.446	GT:AD:DP:GQ:PL	0/1:5,2:7:48:48,0,147	6	0	1	0
chr1	236017198	236017198	C	T	exonic	NID1	.	nonsynonymous SNV	NID1:NM_002508:exon10:c.G2204A:p.R735H	.	425	1034	60	3	0	66	0.0309278	.	.	.	696593	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.575	.	0.0035	0.00758786	0.0087	0.0014	0.0035	0.0003	0.0194	0.0075	0.0088	0.0220	0.0078654	1216	154602	rs140374909	0.0060	0.0060	0.0054	0.0066	0.0298	0.0059	0.0059	0.0262	0.0248	0.0016	0.0038	0.0204	0.0004	0.0201	0.0298	0.0041	0.0076	0.0211	0.0058	0.0059	0.0049	0.0068	0.0193	0.0055	0.0054	0.0162	0.0150	0.0013	0	0.0065	0.0204	0.0010	0.0193	0.0274	0.0050	0.0062	0.0193	0.065	0.36310	T	0.051	0.47828	T	0.562	0.38380	P	0.219	0.37734	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.94	0.23649	L	-3.04	0.92357	D	-4.0	0.74051	D	0.899	0.89912	0.218	0.86206	D	0.586	0.85136	D	10	0.02833268	0.00966	T	.	.	.	0.575	0.82799	.	.	0.877072477656	0.87587	0.5254772813322914	0.52471	0.862312818367	0.69017	0.457313537598	0.32942	T	0.474465	0.80590	T	-0.00145907	0.51454	T	0.240723	0.85180	D	0.0331431175979164	0.02495	T	0.853215	0.53849	D	0.27889568	0.50942	0.32720947	0.58620	0.27032858	0.50105	0.32720947	0.58620	-5.801	0.44583	T	0.3513368987681945	0.44852	0.073	0.04640	B	.	.	4.355198	0.66921	25.0	0.99925081920638503	0.99042	0.95391	0.64536	D	AEFBCI	0.942119	0.94628	D	0.369368960004452	0.59769	4.159	0.514997655487685	0.68997	5.298048	0.999999999999993	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.93	5.93	0.95888	7.548000	0.81103	5.874000	0.50567	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	20.340	0.98759	464	0.78488	EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.034778	0.015152	0.033967	0.047059	0.000000	0.034483	0.045732	0.018939	0.07143	61.44	38	chr1	236017198	.	C	T	61.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=219;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.83;ReadPosRankSum=1.18;SOR=0.446	GT:AD:DP:GQ:PL	0/1:5,4:9:72:72,0,92	6	0	1	0
chr1	244437770	244437770	T	C	splicing	ADSS2	NM_001365073:exon2:c.184-2A>G;NM_001126:exon2:c.184-2A>G	.	.	.	.	.	.	.	.	.	.	1.0000	0.928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262099	0.79722	D	0.138711	0.79460	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.570712	0.92218	32	0.99531787578677755	0.69901	0.90872	0.52420	D	AEFGBCI	.	.	.	1.06359380442632	0.97399	16.062	0.903948885837924	0.95741	13.92164	0.999999999999767	0.74766	0.106106	0.02776	0	0.105846	0.03286	0	0.083675	0.02720	0	0.215001	0.04318	1	0.970796	0.73035	5.72	5.72	0.89380	7.429000	0.79493	7.849000	0.70877	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.818000	0.38543	0.0:0.0:0.0:1.0	14.978	0.70946	950	0.11238	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1429	33.22	37	chr1	244437770	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=198;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr1	248650803	248650804	AG	-	exonic	OR2T27	.	frameshift deletion	OR2T27:NM_001001824:exon1:c.81_82del:p.F28Cfs*83	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs1370108189	1.302e-05	0.0002	1.773e-05	8.264e-06	0.0002	8.33e-06	6.71e-06	0.0001	8.769e-05	0.0002	6.731e-05	0	2.52e-05	0	0	3.602e-06	4.979e-05	0	0.0015	0.0062	0.0015	0.0015	0.0048	0.0013	0.0013	0.0043	0.0041	0.0048	0	0.0012	0	0	0	0	5.948e-05	0.0024	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	98.4	61	chr1	248650802	.	AAG	A	98.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.319;DP=524;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=41.11;MQRankSum=-1.93;QD=12.3;ReadPosRankSum=-1.93;SOR=1.034	GT:AD:DP:GQ:PL	0/1:5,3:8:99:109,0,197	6	0	1	0
chr1	248855631	248855631	C	A	exonic	ZNF692	.	nonsynonymous SNV	ZNF692:NM_001193328:exon7:c.G751T:p.G251W,ZNF692:NM_001136036:exon8:c.G901T:p.G301W,ZNF692:NM_001350072:exon8:c.G883T:p.G295W,ZNF692:NM_001350073:exon8:c.G274T:p.G92W,ZNF692:NM_017865:exon8:c.G886T:p.G296W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.014203220104	.	0.000199681	1.648e-05	0	0.0002	0	0	0	0	0	1.94e-05	3	154602	rs202070604	2.736e-06	2.736e-06	2.722e-06	2.75e-06	8.944e-05	6.4e-07	4.3e-07	2.985e-05	1.804e-05	0	8.944e-05	0	0	0	0	0	0	0	6.564e-06	6.561e-06	0	1.342e-05	6.536e-05	0	0	.	.	0	0	6.536e-05	0	0	0	0	0	0	0	0.002	0.72154	D	0.003	0.76473	D	0.992	0.64738	D	0.841	0.60228	P	0.858480	0.08912	N	0.926147	0.999963	0.18878	N	1.75	0.45442	L	2.97	0.09728	T	-3.17	0.70314	D	0.531	0.56662	-1.0298	0.20519	T	0.047	0.20156	T	10	0.12767649	0.24281	T	0.014203	0.34156	T	0.087	0.25287	0.275	0.22687	0.0401082797425	0.02173	0.1943484748703271	0.19352	0.746644882047	0.63555	0.372745931149	0.21225	T	0.381621	0.74390	T	-0.330412	0.06081	T	-0.457344	0.26889	T	0.71194976568222	0.41296	D	0.821218	0.48050	T	0.2023518	0.42277	0.21802555	0.46490	0.2023518	0.42277	0.21802555	0.46489	-6.662	0.51523	T	.	.	0.315	0.58286	B	.;.;.	.;.;.	3.055789	0.41018	21.3	0.99253271380919073	0.56957	0.13119	0.17674	N	AEFDBI	0.201801	0.32843	N	-0.142290544357439	0.35564	2.044346	-0.302307743718679	0.28025	1.559337	0.999639203910639	0.41205	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.53	-1.07	0.09459	-0.939000	0.04043	-0.031000	0.12795	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.687000	0.33748	0.0:0.4773:0.148:0.3747	5.228	0.14728	976	0.04745	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr1	248855631	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=301;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr2	8958524	8958524	A	C	exonic	MBOAT2	.	nonsynonymous SNV	MBOAT2:NM_138799:exon2:c.T194G:p.L65R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.417	0.0229579739855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.007	0.69154	D	0.984	0.60733	D	0.753	0.56122	P	0.002166	0.37095	N	0.299751	0.999995	0.58761	D	2.445	0.70938	M	2.54	0.13916	T	-4.56	0.78636	D	0.927	0.93135	-1.1182	0.02448	T	0.080	0.31645	T	10	0.9475696	0.94085	D	0.022958	0.45892	T	0.417	0.72705	0.829	0.93915	0.320526991862	0.31653	0.9137127637080802	0.91346	1.35500379905	0.84173	0.729132711887	0.71379	T	0.398874	0.75686	T	0.213578	0.75166	D	0.0690129	0.74843	D	0.979214012622833	0.72717	D	0.937706	0.76563	D	0.8798945	0.89658	0.8837814	0.93827	0.8798945	0.89659	0.8837814	0.93828	-14.642	0.94957	D	.	.	0.853	0.79910	P	.	.	5.059953	0.84328	28.3	0.99756115117823974	0.84694	0.98818	0.87255	D	AEFBI	0.840312	0.75762	D	0.688070362850141	0.78850	6.955496	0.721085312886649	0.83980	8.166259	0.999918489866798	0.45857	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	6.03	6.03	0.97798	6.984000	0.75959	10.908000	0.84170	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.558	0.84362	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	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr2	8958524	.	A	C	33.22	.	AC=2;AF=0.143;AN=14;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr2	15945795	15945795	C	G	exonic	MYCN	.	nonsynonymous SNV	MYCN:NM_001293231:exon2:c.C460G:p.P154A,MYCN:NM_001293228:exon3:c.C1093G:p.P365A,MYCN:NM_005378:exon3:c.C1093G:p.P365A	Feingold syndrome 1, Autosomal dominant	0	1506	16	0	0	16	0.00528402	.	.	.	494063	not_provided|MYCN-related_disorder|not_specified	MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.049	0.00329400212941	0.0004	0.000798722	0.0011	0.0002	0.0006	0	0	0.0008	0.0022	0.0042	0.0009767	151	154602	rs140276895	0.0006	0.0006	0.0005	0.0008	0.0040	0.0006	0.0006	0.0032	0.0031	0	0.0007	0.0020	0	5.629e-05	0.0040	0.0004	0.0012	0.0035	0.0005	0.0005	0.0004	0.0005	0.0044	0.0004	0.0003	0.0029	0.0025	0.0002	0	0.0004	0.0017	0	0	0	0.0004	0.0005	0.0044	0.548	0.06627	T	0.196	0.27943	T	0.003	0.11197	B	0.015	0.17295	B	0.952151	0.07662	N	1.143260	0.911235	0.27502	N	1.175	0.29870	L	2.31	0.16794	T	-2.06	0.47175	N	0.089	0.06720	-0.9751	0.36104	T	0.034	0.14683	T	10	0.007650286	0.00174	T	0.003294	0.07298	T	0.049	0.13647	.	.	0.123314135267	0.11883	0.5554918430995536	0.55476	0.762051862462	0.64309	0.35464823246	0.18603	T	0.280575	0.65329	T	-0.630878	0.00094	T	-0.682353	0.06840	T	0.00231323464555852	0.00024	T	0.643236	0.25495	T	0.04147329	0.06112	0.054295804	0.09312	0.045553748	0.07474	0.04799686	0.07033	-3.068	0.10932	T	0.13771949040255213	0.15178	0.050	0.00207	B	.;.	.;.	0.711887	0.10810	7.490	0.84978858068483398	0.15611	0.63599	0.32140	D	AEFDBI	0.132353	0.25163	N	-0.608059533852879	0.18700	0.9730331	-0.538044831616272	0.21124	1.141245	0.999803013849493	0.43304	0.722319	0.85440	0	0.563428	0.19063	0	0.698795	0.65105	0	0.586402	0.36253	0	.	.	4.99	2.01	0.25568	1.011000	0.29513	0.659000	0.20486	0.596000	0.33519	0.778000	0.29449	0.051000	0.21832	0.553000	0.30245	0.2578:0.4925:0.2497:0.0	9.777	0.39794	961	0.08552	Transcription regulator Myc, N-terminal;Transcription regulator Myc, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.007576	0.07143	133.44	34	chr2	15945795	.	C	G	133.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.674;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=22.24;ReadPosRankSum=0.967;SOR=0.368	GT:AD:DP:GQ:PL	0/1:1,5:6:23:144,0,23	6	0	1	0
chr2	26318945	26318945	T	A	exonic	ADGRF3	.	nonsynonymous SNV	ADGRF3:NM_001145168:exon1:c.A105T:p.R35S	.	420	1086	16	0	0	16	0.00731261	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0081	0.00179712	0.0089	0.0025	0.0049	0	0.0182	0.0132	0.02	0.0052	0.0026002	402	154602	rs150568284	0.0100	0.0096	0.0100	0.0101	0.0111	0.0099	0.0098	0.0109	0.0109	0.0014	0.0023	0.0072	5.597e-05	0.0191	0.0032	0.0111	0.0087	0.0040	0.0087	0.0087	0.0085	0.0089	0.0133	0.0083	0.0081	0.0125	0.0123	0.0019	0.0482	0.0033	0.0069	0	0.0184	0.0034	0.0133	0.0052	0.0037	0.0	0.91255	D	0.0	0.92824	D	0.608	0.39540	P	0.205	0.37080	B	.	.	.	.	1	0.08975	N	.	.	.	0.86	0.46777	T	0.25	0.04456	N	0.28	0.31702	-1.0405	0.17162	T	0.062	0.25994	T	9	0.0037700832	0.00070	T	.	.	.	0.028	0.06331	0.285	0.24280	0.0806252709748	0.07271	0.2029677377988428	0.20213	0.0920708205007	0.10393	0.331719100475	0.15194	T	0.005658	0.05109	T	-0.52663	0.00402	T	-0.514308	0.20874	T	0.0131526524302687	0.00232	T	0.326967	0.06756	T	0.079447314	0.18149	0.1001424	0.23935	0.079447314	0.18149	0.1001424	0.23934	-3.265	0.13290	T	.	.	0.112	0.21803	B	.	.	0.278923	0.06558	3.047	0.92911029127404066	0.22470	0.09647	0.15356	N	AEFDBI	0.146622	0.27011	N	-0.59266275548191	0.19167	1.000974	-0.691292204938467	0.17178	0.9122232	0.99999901924657	0.74766	0.65757	0.49021	0	0.547309	0.14657	0	0.619478	0.44681	0	0.530356	0.10902	0	.	.	4.54	0.783	0.17717	0.125000	0.15577	-0.244000	0.10566	-0.117000	0.14459	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.3657:0.0:0.6343	5.787	0.17603	446	0.79659	.	DRC1	Brain_Nucleus_accumbens_basal_ganglia	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	64.44	35	chr2	26318945	.	T	A	64.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.05;ReadPosRankSum=-1.718;SOR=0.693	GT:AD:DP:GQ:PL	0/1:4,4:8:75:75,0,75	6	0	1	0
chr2	29071533	29071533	C	T	exonic	PCARE	.	nonsynonymous SNV	PCARE:NM_001029883:exon1:c.G2729A:p.S910N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00484762736987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.573	0.06125	T	0.428	0.13792	T	0.01	0.15535	B	0.009	0.14300	B	0.729547	0.09867	N	0.889170	1	0.08975	N	.	.	.	2.18	0.18875	T	-0.65	0.18877	N	0.051	0.02272	-0.9622	0.38761	T	0.025	0.10777	T	10	0.04481703	0.03482	T	0.004848	0.12161	T	0.039	0.10176	0.193	0.10437	0.12205267543	0.11705	0.08876646316841813	0.08809	0.0141472348956	0.01351	.	.	.	0.003855	0.03262	T	-0.409792	0.01994	T	-0.826415	0.01327	T	0.0180650968104601	0.00529	T	0.335866	0.07168	T	0.0382702	0.05067	0.043495454	0.05425	0.0382702	0.05066	0.043495454	0.05424	-5.273	0.39675	T	.	.	0.112	0.21877	B	.	.	0.294828	0.06710	3.216	0.1995794971397955	0.00697	0.04057	0.09505	N	AEFDBI	0.051113	0.09000	N	-1.30456236435165	0.03622	0.1621394	-1.28452641595779	0.04639	0.2192845	0.0867893587662067	0.16018	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.71	0.050	0.13605	0.070000	0.14440	-1.121000	0.06268	-0.316000	0.05924	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2496:0.4681:0.0:0.2823	4.951	0.13363	449	0.79428	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	125.44	44	chr2	29071533	.	C	T	125.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.087;DP=280;ExcessHet=0;FS=2.463;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-0.618;SOR=0.76	GT:AD:DP:GQ:PL	0/1:6,5:11:99:136,0,186	6	0	1	0
chr2	29072199	29072199	C	T	exonic	PCARE	.	nonsynonymous SNV	PCARE:NM_001029883:exon1:c.G2063A:p.C688Y	.	0	1519	3	0	0	3	0.000986518	.	.	.	190311	not_specified|Retinitis_pigmentosa_54|not_provided|Retinitis_pigmentosa	MedGen:CN169374|MONDO:MONDO:0013263,MedGen:C3150691,OMIM:613428,Orphanet:791|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.089	0.00405969704313	0.0057	0.00239617	0.0044	0.0011	0.0041	0	0.0018	0.0068	0	0.0007	0.0046636	721	154602	rs149601594	0.0067	0.0067	0.0069	0.0065	0.0078	0.0066	0.0065	0.0076	0.0076	0.0009	0.0054	0.0142	0	0.0013	0.0007	0.0078	0.0061	0.0008	0.0054	0.0054	0.0055	0.0052	0.0095	0.0051	0.0049	0.0082	0.0077	0.0016	0.0319	0.0095	0.0161	0	0.0006	0	0.0074	0.0047	0.0006	0.032	0.44694	D	0.035	0.52389	D	0.911	0.50336	P	0.461	0.46460	P	0.264338	0.15252	N	0.671334	1	0.08975	N	.	.	.	2.09	0.20122	T	-6.84	0.93060	D	0.333	0.37405	-1.0539	0.13332	T	0.041	0.17785	T	10	0.0038235188	0.00072	T	0.00406	0.09681	T	0.089	0.25827	.	.	0.458554320643	0.45480	0.07903321994906204	0.07838	0.0438230425045	0.04719	.	.	.	0.035906	0.23900	T	-0.54078	0.00331	T	-0.542747	0.18027	T	0.0515074829785998	0.05762	T	0.590841	0.21745	T	0.2187379	0.44389	0.31928664	0.57891	0.2187379	0.44389	0.31928664	0.57890	-3.666	0.18818	T	.	.	0.142	0.31100	B	.	.	2.051355	0.26077	16.99	0.71378488349486868	0.09609	0.04747	0.10450	N	AEFDBI	0.036722	0.04940	N	-0.0474609709657713	0.39715	2.346608	-0.127191390327846	0.34299	1.971352	0.557296018852192	0.21384	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.76	4.84	0.62125	0.333000	0.19512	0.586000	0.19767	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.197000	0.21808	0.1064:0.6421:0.1789:0.0726	7.794	0.28302	449	0.79428	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.000000	0.07143	448.44	44	chr2	29072199	.	C	T	448.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.794;DP=769;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=0.175;SOR=0.904	GT:AD:DP:GQ:PL	0/1:19,19:38:99:459,0,477	6	0	1	0
chr2	43804717	43804717	A	G	exonic	DYNC2LI1	.	nonsynonymous SNV	DYNC2LI1:NM_001193464:exon11:c.A881G:p.Y294C,DYNC2LI1:NM_001348912:exon11:c.A878G:p.Y293C,DYNC2LI1:NM_001348913:exon11:c.A881G:p.Y294C,DYNC2LI1:NM_016008:exon11:c.A878G:p.Y293C	Short-rib throacic dysplasia 15 with polydactyly, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.0104158424444	7.7e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs144458075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.36509	T	0.129	0.34837	T	0.094	0.28027	B	0.048	0.30945	B	0.000343	0.45440	D	0.190930	0.830181	0.34906	D	1.455	0.36767	L	2.18	0.18875	T	-4.47	0.77881	D	0.487	0.58883	-0.9907	0.32424	T	0.085	0.33213	T	10	0.1956462	0.35424	T	0.010416	0.26937	T	0.150	0.39571	.	.	0.162503812791	0.15892	0.6967761292227603	0.69618	0.0488043067536	0.05334	0.607020676136	0.53895	T	0.394453	0.75359	T	-0.109719	0.34814	T	-0.39538	0.33923	T	0.779158174991608	0.44998	D	0.889211	0.62120	D	0.24230084	0.47155	0.19113244	0.42555	0.24230084	0.47155	0.19113244	0.42555	-8.892	0.66999	D	0.4212105884424297	0.50997	0.093	0.31381	B	.;.	.;.	3.432154	0.47710	22.5	0.97068935255574718	0.32230	0.76889	0.37748	D	AEFBI	0.327961	0.42877	N	-0.225223045561497	0.32102	1.806843	-0.109690524488204	0.34999	2.019652	0.263522846396677	0.18816	0.706298	0.61202	0	0.659464	0.62310	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	4.48	3.34	0.37357	1.582000	0.36177	9.146000	0.78930	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.5929:0.0:0.0967:0.3104	4.216	0.09989	615	0.66512	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr2	43804717	.	A	G	33.22	.	AC=2;AF=0.143;AN=14;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr2	43901339	43901339	C	A	exonic	LRPPRC	.	nonsynonymous SNV	LRPPRC:NM_133259:exon32:c.G3550T:p.A1184S	Leigh syndrome, French-Canadian type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.0197831097091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.015	0.61642	D	0.991	0.64070	D	0.793	0.57829	P	0.000013	0.62929	D	0.113850	0.995161	0.42571	D	2.93	0.84523	M	2.59	0.13317	T	-1.48	0.36189	N	0.339	0.38027	-1.1407	0.01332	T	0.091	0.34928	T	10	0.3189087	0.49284	T	0.019783	0.42228	T	0.180	0.45073	0.473	0.54859	0.637886457206	0.63490	0.4894458103321483	0.48864	0.149322655624	0.16836	0.42533493042	0.28571	T	0.275361	0.64790	T	-0.0894283	0.38173	T	-0.366234	0.37329	T	0.940356194972992	0.61262	D	0.829117	0.49388	T	0.09738369	0.22955	0.13140744	0.31554	0.09738369	0.22955	0.13140744	0.31553	-5.904	0.45470	T	0.2542619050894805	0.34388	0.193	0.41310	B	.	.	4.616921	0.73272	26.0	0.99544401216670042	0.70711	0.96761	0.70797	D	AEFGBI	0.332046	0.43158	N	0.713294975568361	0.80504	7.308781	0.721163659088214	0.83988	8.167854	0.99999680545719	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.07	6.07	0.98675	3.453000	0.52743	7.728000	0.67649	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.985000	0.61073	0.0:0.9305:0.0:0.0695	13.791	0.62629	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	38	chr2	43901339	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr2	45418498	45418498	C	G	exonic	SRBD1	.	nonsynonymous SNV	SRBD1:NM_018079:exon18:c.G2200C:p.E734Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.0209011780679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.41364	D	0.029	0.54541	D	1.0	0.90584	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	1.77	0.45869	L	1.85	0.24472	T	-2.24	0.50175	N	0.734	0.73465	-0.8668	0.50768	T	0.163	0.49980	T	10	0.6664457	0.70455	D	0.020901	0.43581	T	0.207	0.49555	0.341	0.33302	0.702089145349	0.69950	0.7332840229311961	0.73273	0.0989348035754	0.11181	0.668543934822	0.62630	T	0.00953	0.08670	T	-0.043472	0.45433	T	-0.300221	0.44701	T	0.965844631195068	0.67394	D	0.960404	0.85096	D	0.35363194	0.57348	0.27265579	0.53178	0.35363194	0.57348	0.27265579	0.53177	-11.97	0.84705	D	.	.	0.167	0.36712	B	.	.	4.775311	0.77344	26.7	0.99823313023740845	0.90590	0.98099	0.79589	D	AEFBI	0.898594	0.84205	D	0.696308983004008	0.79391	7.067645	0.69525990852002	0.82019	7.664379	0.999999953127231	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.96	5.09	0.68647	7.458000	0.79818	7.581000	0.60964	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9333:0.0:0.0667	15.439	0.74894	927	0.17636	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	31	chr2	45418498	.	C	G	33.22	.	AC=2;AF=0.143;AN=14;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr2	55656175	55656175	A	G	exonic	PNPT1	.	nonsynonymous SNV	PNPT1:NM_033109:exon17:c.T1397C:p.F466S	Combined oxidative phosphorylation deficiency 13, Autosomal recessive;Deafness, autosomal recessive 70, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.794	0.127680224603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.014	0.62352	D	0.987	0.61912	D	0.94	0.67560	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.83	0.82355	M	0.01	0.62459	T	-5.63	0.86836	D	0.941	0.94786	0.108	0.84325	D	0.472	0.79716	T	10	0.8998928	0.89349	D	0.12768	0.80952	D	0.794	0.93227	0.723	0.85761	0.752526195303	0.75028	0.952733168883312	0.95257	0.553234154126	0.52099	0.783098578453	0.79396	T	0.62507	0.88305	D	0.351137	0.86583	D	0.266607	0.86407	D	0.998156368732452	0.93375	D	.	.	.	0.8436392	0.86869	0.8126017	0.89066	0.8436392	0.86871	0.8126017	0.89067	-12.125	0.85455	D	0.2286129973749547	0.30918	0.86	0.80310	P	.	.	4.467672	0.69589	25.4	0.98145422991799669	0.38638	0.98850	0.87681	D	AEFBI	0.899443	0.84383	D	0.820273640412999	0.87356	9.189935	0.755306121623349	0.86551	8.926163	0.993991063815216	0.33443	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.82	4.82	0.61641	8.942000	0.92506	11.241000	0.90426	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.659	0.68461	423	0.81269	Exoribonuclease, phosphorolytic domain 1	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1429	74.22	33	chr2	55656175	.	A	G	74.22	.	AC=2;AF=0.143;AN=14;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=29.89;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:55656175_A_G:90,6,0:55656175	6	1	0	0
chr2	61873030	61873030	T	C	exonic	CCT4	.	nonsynonymous SNV	CCT4:NM_001256721:exon9:c.A1007G:p.N336S,CCT4:NM_006430:exon10:c.A1097G:p.N366S	.	426	1078	18	0	0	18	0.00827967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	.	0.0002	0.00259585	0.0021	9.619e-05	0.0005	0.0002	0.0002	0.0002	0.0022	0.0139	0.0018305	283	154602	rs150227141	0.0009	0.0009	0.0005	0.0014	0.0133	0.0009	0.0009	0.0126	0.0124	8.983e-05	0.0002	0	0.0009	1.872e-05	0.0031	0.0001	0.0009	0.0133	0.0006	0.0006	0.0004	0.0008	0.0110	0.0005	0.0004	0.0086	0.0078	0.0002	0	0.0008	0	0.0004	0	0.0034	0.0001	0	0.0110	0.876	0.02568	T	0.448	0.13030	T	0.0	0.02946	B	0.002	0.06944	B	0.000235	0.47286	N	0.290329	0.986898	0.24571	N	-1.095	0.01012	N	-1.11	0.77466	T	0.54	0.02764	N	0.075	0.05799	-0.9582	0.39516	T	0.120	0.41821	T	10	0.0037590563	0.00070	T	.	.	.	0.242	0.54781	.	.	0.228066490088	0.22430	0.35421404533694456	0.35335	0.234397524989	0.25976	0.320901304483	0.13558	T	0.242458	0.61120	T	-0.574876	0.00207	T	-0.58687	0.13939	T	0.00279880017573635	0.00029	T	0.831017	0.49766	T	0.10445547	0.24694	0.05073367	0.08021	0.10445547	0.24694	0.05073367	0.08020	-2.844	0.08595	T	.	.	0.059	0.00793	B	.;.	.;.	2.233915	0.28519	17.82	0.7157968518545047	0.09677	0.22416	0.21739	N	AEDBCIJ	0.068338	0.13476	N	-1.29375309798235	0.03749	0.1680699	-1.07789728224533	0.08136	0.3987337	0.248501459070063	0.18654	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.86	-0.8	0.10347	0.105000	0.15169	-1.122000	0.06265	-0.118000	0.14412	0.966000	0.33990	0.002000	0.18203	0.996000	0.76049	0.0:0.4698:0.0:0.5302	12.964	0.57875	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	0.002518	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.007576	0.07143	53.44	33	chr2	61873030	.	T	C	53.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.15;DP=205;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=0.319;SOR=0.446	GT:AD:DP:GQ:PL	0/1:1,3:4:28:64,0,28	6	0	1	0
chr2	70900710	70900710	G	A	exonic	VAX2	.	nonsynonymous SNV	VAX2:NM_012476:exon1:c.G89A:p.G30E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.983678529406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.524e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.331	0.13088	T	0.602	0.07894	T	0.028	0.19712	B	0.014	0.16862	B	0.024540	0.26246	N	0.413860	0.999997	0.08975	N	1.87	0.49600	L	-2.61	0.89953	D	0.36	0.03700	N	0.214	0.23884	-0.6059	0.64573	T	0.479	0.80083	T	10	0.23663265	0.40749	T	0.983679	0.99920	D	0.159	0.41286	0.249	0.18602	0.976648871268	0.97640	0.15834768573496824	0.15755	0.0512605439313	0.05640	0.853335678577	0.90117	D	0.060377	0.31371	T	-0.0203606	0.48803	T	-0.267023	0.48120	T	0.376617014408112	0.28052	T	0.422958	0.11265	T	0.06426304	0.13616	0.1525997	0.35895	0.06426304	0.13615	0.1525997	0.35894	-4.373	0.29188	T	.	.	0.093	0.13923	B	.	.	2.505033	0.32342	19.01	0.99465460177519183	0.66049	0.72738	0.35593	D	ALL	0.153536	0.27841	N	-0.361698171766658	0.26845	1.468238	-0.301473973656529	0.28051	1.56104	0.999999999571868	0.74766	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.603991	0.37454	0	.	.	3.8	2.89	0.32713	2.969000	0.48924	3.506000	0.38809	0.450000	0.21304	0.562000	0.27441	0.999000	0.35428	0.372000	0.26156	0.1363:0.0:0.8637:0.0	6.573	0.21743	733	0.53988	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.34	16	chr2	70900710	.	G	A	33.34	.	AC=2;AF=0.143;AN=14;DP=93;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.67;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr2	71424651	71424651	C	A	exonic	ZNF638	.	nonsynonymous SNV	ZNF638:NM_001014972:exon23:c.C4526A:p.T1509N,ZNF638:NM_001252612:exon23:c.C4526A:p.T1509N,ZNF638:NM_001252613:exon23:c.C4526A:p.T1509N,ZNF638:NM_014497:exon23:c.C4526A:p.T1509N	.	.	.	.	.	.	.	.	0.6001	0.476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.0113291735261	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.16	0.31427	T	0.895	0.49247	P	0.502	0.47702	P	0.006881	0.31745	N	0.155473	0.862501	0.28333	N	2.24	0.63355	M	1.4	0.33630	T	-1.15	0.29525	N	0.297	0.33578	-1.1258	0.01994	T	0.076	0.30492	T	10	0.1533114	0.28942	T	0.011329	0.28845	T	0.036	0.09122	0.135	0.03920	0.0675242888579	0.06100	0.13129775226696705	0.13054	0.183450680259	0.20635	0.340507626534	0.16513	T	0.05447	0.29735	T	-0.153104	0.27828	T	-0.4577	0.26851	T	0.904921591281891	0.55852	D	0.891611	0.62654	D	0.15912564	0.35762	0.14592259	0.34589	0.15912564	0.35762	0.14592259	0.34588	-3.79	0.20655	T	.	.	0.083	0.13597	B	.;.	.;.	3.960645	0.58084	23.9	0.98996565571031192	0.50065	0.95658	0.65609	D	AEFGBI	0.364343	0.45291	N	0.0496702045232919	0.44127	2.692474	0.125143836688042	0.45839	2.840027	0.999999970085578	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.591603	0.36755	0	.	.	4.83	4.83	0.61880	1.325000	0.33330	.	.	0.597000	0.34315	0.999000	0.42656	1.000000	0.68203	0.974000	0.55675	0.0:1.0:0.0:0.0	13.293	0.59715	633	0.64743	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr2	71424651	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr2	71660585	71660585	T	C	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130976:exon43:c.T4778C:p.I1593T,DYSF:NM_001130986:exon43:c.T4781C:p.I1594T,DYSF:NM_001130455:exon44:c.T4823C:p.I1608T,DYSF:NM_001130977:exon44:c.T4841C:p.I1614T,DYSF:NM_001130980:exon44:c.T4871C:p.I1624T,DYSF:NM_001130984:exon44:c.T4844C:p.I1615T,DYSF:NM_001130985:exon44:c.T4874C:p.I1625T,DYSF:NM_003494:exon44:c.T4820C:p.I1607T,DYSF:NM_001130978:exon45:c.T4883C:p.I1628T,DYSF:NM_001130979:exon45:c.T4913C:p.I1638T,DYSF:NM_001130981:exon45:c.T4934C:p.I1645T,DYSF:NM_001130982:exon45:c.T4916C:p.I1639T,DYSF:NM_001130983:exon45:c.T4886C:p.I1629T,DYSF:NM_001130987:exon45:c.T4937C:p.I1646T	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	2	1484	36	0	0	36	0.011984	.	.	YES	194665	Qualitative_or_quantitative_defects_of_dysferlin|not_specified|not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B|Miyoshi_muscular_dystrophy_1|DYSF-related_disorder|Autosomal_recessive_limb-girdle_muscular_dystrophy	MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130,Orphanet:45448|.|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600,Orphanet:102015	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.363	.	0.0012	0.00319489	0.0033	9.61e-05	0.0010	0.0002	0.0005	0.0026	0.0044	0.0127	0.0029172	451	154602	rs146384562	0.0021	0.0021	0.0017	0.0024	0.0136	0.0020	0.0020	0.0129	0.0126	0.0002	0.0010	0.0017	0	0.0014	0.0064	0.0013	0.0025	0.0136	0.0017	0.0017	0.0015	0.0019	0.0151	0.0015	0.0015	0.0124	0.0113	9.622e-05	0	0.0037	0.0023	0	0.0006	0.0034	0.0016	0.0009	0.0151	0.001	0.78490	D	0.038	0.51421	D	0.0	0.17989	B	0.003	0.30579	B	0.004116	0.34102	N	0.313928	0.69987	0.33410	D	1.27	0.32069	L	-0.58	0.71425	T	-3.38	0.66780	D	0.624	0.64223	-0.4479	0.70469	T	0.221	0.58447	T	10	0.012410134	0.00267	T	.	.	.	0.363	0.68319	.	.	0.760002136387	0.75782	0.6077555353843563	0.60707	0.208774122506	0.23348	0.392420083284	0.24010	T	0.752	0.93211	D	-0.293494	0.09288	T	-0.183329	0.56213	T	0.0465958301588332	0.04891	T	0.964204	0.86724	D	0.32428068	0.54999	0.49371374	0.70717	0.46025723	0.64687	0.4232503	0.66202	-10.4	0.76271	D	0.3412174310421623	0.43894	0.139	0.33755	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.520026	0.70858	25.6	0.9956121916625863	0.71769	0.96820	0.71115	D	AEFBI	0.737569	0.68272	D	0.0548768012775958	0.44368	2.712078	0.242070305115118	0.52198	3.396399	0.999999998182358	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.78	5.78	0.91418	5.135000	0.64617	.	.	0.665000	0.62972	0.903000	0.31499	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	14.122	0.64726	418	0.81602	.;.;.;.;C2 domain|C2 domain|C2 domain|Ferlin, fifth C2 domain;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007064	0.000000	0.004076	0.020588	0.000000	0.008621	0.012346	0.000000	0.1429	207.19	34	chr2	71660585	.	T	C	207.19	.	AC=2;AF=0.143;AN=14;DP=210;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=29.6;SOR=1.609	GT:AD:DP:GQ:PL	1/1:0,7:7:21:228,21,0	6	1	0	0
chr2	73701042	73701043	TA	-	exonic	NAT8B	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	100.4	86	chr2	73701041	.	CTA	C	100.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.732;DP=776;ExcessHet=0;FS=8.451;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=0.439;SOR=2.783	GT:AD:DP:GQ:PL	0/1:5,3:8:99:111,0,201	6	0	1	0
chr2	74491141	74491141	G	A	exonic	TTC31	.	nonsynonymous SNV	TTC31:NM_001376144:exon4:c.G44A:p.R15Q,TTC31:NM_001376134:exon5:c.G347A:p.R116Q,TTC31:NM_001376135:exon5:c.G347A:p.R116Q,TTC31:NM_001376138:exon5:c.G128A:p.R43Q,TTC31:NM_001376139:exon5:c.G128A:p.R43Q,TTC31:NM_001376140:exon5:c.G128A:p.R43Q,TTC31:NM_001376141:exon5:c.G128A:p.R43Q,TTC31:NM_001376145:exon5:c.G128A:p.R43Q,TTC31:NM_001376129:exon6:c.G560A:p.R187Q,TTC31:NM_001376130:exon6:c.G560A:p.R187Q,TTC31:NM_001376132:exon6:c.G560A:p.R187Q,TTC31:NM_001376133:exon6:c.G560A:p.R187Q,TTC31:NM_001376136:exon6:c.G560A:p.R187Q,TTC31:NM_001376137:exon6:c.G560A:p.R187Q,TTC31:NM_022492:exon6:c.G560A:p.R187Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.0385636800635	.	0.000599042	0.0002	0	0	0	0.0002	4.495e-05	0.0011	0.0010	0.0001746	27	154602	rs559169951	0.0001	0.0001	8.44e-05	0.0001	0.0012	9.805e-05	9.221e-05	0.0010	0.0010	2.987e-05	0	0	0	0.0004	0.0003	2.698e-05	6.623e-05	0.0012	0.0001	0.0001	8.994e-05	0.0001	0.0023	7.086e-05	5.744e-05	0.0013	0.0010	0	0	0	0	0	0.0004	0	2.94e-05	0	0.0023	0.0	0.91255	D	0.0	0.92824	D	0.89	0.48942	P	0.082	0.29098	B	0.471275	0.12275	N	0.733823	1	0.08975	N	1.1	0.28011	L	1.0	0.79072	T	-2.77	0.58733	D	0.525	0.57946	-0.5368	0.67285	T	0.508	0.81503	D	10	0.013127476	0.00280	T	0.038564	0.58299	D	0.229	0.52916	.	.	0.809627414608	0.80784	0.13045283044747077	0.12970	0.496165126897	0.48136	0.336551964283	0.15921	T	0.157879	0.50067	T	-0.221575	0.17779	T	-0.141495	0.59988	T	0.141398834877578	0.16395	T	0.865313	0.57956	D	0.12774141	0.29885	0.1623589	0.37718	0.12774141	0.29885	0.1623589	0.37717	-8.542	0.65222	D	.	.	0.325	0.54854	B	.;.;.	.;.;.	3.699337	0.52748	23.3	0.99867753839276596	0.94547	0.14892	0.18639	N	AEFGBI	0.060749	0.11567	N	-0.135957378160356	0.35833	2.063373	-0.245115895776798	0.29939	1.681536	0.998582504176612	0.37247	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.85	2.04	0.25787	1.562000	0.35961	2.927000	0.35595	0.676000	0.76740	0.437000	0.26463	0.630000	0.25861	0.993000	0.69303	0.2341:0.0:0.7659:0.0	5.988	0.18674	366	0.84579	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.07143	70.44	33	chr2	74491141	.	G	A	70.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=1.83;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,4:6:31:81,0,31	6	0	1	0
chr2	94876671	94876671	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A664G:p.I222V,TEKT4:NM_144705:exon6:c.A1210G:p.I404V	.	425	183	912	2	0	916	0.714509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.00380674609401	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs142133592	3.422e-06	3.42e-06	4.086e-06	2.751e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.044	0.49663	D	0.967	0.56408	D	0.77	0.56828	P	0.000003	0.62929	D	0.059094	0.999993	0.58761	D	2.465	0.71551	M	3.8	0.03781	T	-0.93	0.24898	N	0.355	0.39659	-1.1543	0.00903	T	0.035	0.15030	T	10	0.2894683	0.46528	T	0.003807	0.08899	T	0.186	0.46104	.	.	0.0716867268079	0.06686	0.38576410498893454	0.38491	0.041304716601	0.04434	0.519737362862	0.41590	T	0.070106	0.33877	T	-0.102007	0.36092	T	-0.384302	0.35219	T	0.773092746734619	0.44626	D	0.518148	0.16784	T	0.11624111	0.27419	0.19920714	0.43791	0.11624111	0.27418	0.19920714	0.43790	-6.086	0.46993	T	.	.	0.080	0.07650	B	.	.	2.197892	0.28028	17.66	0.99758744490040718	0.84851	0.77619	0.38185	D	AEFDGBI	0.245424	0.36636	N	0.178097147237031	0.50149	3.207675	0.0117110839863197	0.40257	2.399706	0.274437957628434	0.18925	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	2.475000	0.44821	2.894000	0.35409	0.373000	0.20310	0.967000	0.34061	1.000000	0.68203	0.500000	0.29017	1.0:0.0:0.0:0.0	8.354	0.31480	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	19027.1	303	chr2	94876671	.	A	G	19027.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-6.487;DP=2361;ExcessHet=14.2834;FS=1.276;MLEAC=7;MLEAF=0.5;MQ=55.94;MQRankSum=-19.83;QD=8.13;ReadPosRankSum=3.99;SOR=0.582	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,4:20:99:0|1:94876671_A_G:120,0,660:94876671	0	0	7	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T,TEKT4:NM_144705:exon6:c.G1213A:p.A405T	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	0.0115815	0.0037	0.0032	0.0047	0.0156	0.0008	0.0021	0.0047	0.0045	0.0058783	153	26028	rs75603622	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.267	0.22561	T	0.003	0.11197	B	0.013	0.16460	B	0.039834	0.24126	N	0.433987	0.997095	0.22793	N	3.49	0.92661	M	4.15	0.02815	T	-1.68	0.40082	N	0.141	0.14054	-0.9396	0.42679	T	0.013	0.04985	T	10	0.0041491687	0.00082	T	.	.	.	0.156	0.40720	.	.	0.117506650769	0.11410	0.2704892680538193	0.26961	0.0299475133996	0.03088	0.393358677626	0.24142	T	0.056124	0.30199	T	-0.161562	0.26520	T	-0.469849	0.25532	T	0.0468978844343634	0.04948	T	0.689731	0.29897	T	0.042698704	0.06523	0.104346365	0.25059	0.042698704	0.06523	0.104346365	0.25058	-4.749	0.33991	T	.	.	0.081	0.08129	B	.	.	1.062693	0.14447	11.02	0.91920144370954304	0.21243	0.00957	0.03676	N	AEFDGBI	0.022506	0.01133	N	-1.17567910300973	0.05369	0.2445992	-1.31751710428587	0.04204	0.1977864	0.0017749666691999	0.08872	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	-2.21	0.06581	0.036000	0.13706	2.580000	0.33410	-0.673000	0.04287	0.001000	0.13787	0.571000	0.25572	0.394000	0.26647	0.1368:0.0:0.6998:0.1633	6.926	0.23596	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012588	0.025253	0.002717	0.011696	0.000000	0.000000	0.021341	0.018939	0.5	19917.1	303	chr2	94876674	.	G	A	19917.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-6.474;DP=2389;ExcessHet=14.2834;FS=1.269;MLEAC=7;MLEAF=0.5;MQ=55.95;MQRankSum=-19.98;QD=8.45;ReadPosRankSum=4.2;SOR=0.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,4:20:99:0|1:94876671_A_G:120,0,660:94876671	0	0	7	0
chr2	94876731	94876731	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C724T:p.R242C,TEKT4:NM_144705:exon6:c.C1270T:p.R424C	.	422	173	925	2	0	929	0.728627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0041459355799	.	0.000199681	0.0026	0.0055	0.0008	0.0029	0.0009	0.0031	0.0024	0.0009	0.0016136	42	26028	rs1052809	2.266e-05	4.721e-05	2.05e-05	2.484e-05	0.0002	1.616e-05	1.421e-05	7.131e-05	5.487e-05	5.977e-05	6.711e-05	0	0	0	0.0002	9.902e-06	8.287e-05	0.0001	6.572e-06	6.567e-06	0	1.345e-05	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.103	0.30097	T	0.066	0.44501	T	0.572	0.38625	P	0.148	0.34065	B	0.002019	0.37457	N	0.261531	0.999997	0.58761	D	1.775	0.45938	L	4.11	0.02916	T	-4.13	0.75139	D	0.316	0.35620	-0.8786	0.49872	T	0.010	0.03856	T	10	0.01365149	0.00289	T	0.004146	0.09931	T	0.132	0.35948	.	.	0.491455083755	0.48780	0.5777951626377072	0.57708	0.0586537782296	0.06507	0.432330518961	0.29528	T	0.138567	0.47212	T	-0.133279	0.30966	T	-0.429223	0.30023	T	0.0535928154404934	0.06120	T	0.627737	0.24333	T	0.19040447	0.40625	0.158895	0.37084	0.19040447	0.40624	0.158895	0.37084	-4.535	0.31344	T	.	.	0.086	0.10883	B	.	.	2.921119	0.38776	20.8	0.98416532006618407	0.41234	0.09068	0.14897	N	AEFDGBI	0.064399	0.12503	N	-0.384009387342546	0.26038	1.418045	-0.456280458516489	0.23371	1.274154	0.0109668901558148	0.12109	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	1.541000	0.35732	0.966000	0.23025	0.302000	0.18967	0.091000	0.22601	0.000000	0.08366	0.392000	0.26603	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.045317	0.136364	0.005435	0.035088	0.000000	0.043103	0.076220	0.030303	0.5	9635.83	294	chr2	94876731	.	C	T	9635.83	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.43;DP=2227;ExcessHet=14.2834;FS=4.237;MLEAC=7;MLEAF=0.5;MQ=56.87;MQRankSum=-19.16;QD=4.43;ReadPosRankSum=-0.606;SOR=1.099	GT:AD:DP:GQ:PL	0/1:13,2:15:5:5,0,318	0	0	7	0
chr2	95150037	95150037	C	T	exonic	ZNF514	.	nonsynonymous SNV	ZNF514:NM_001318005:exon5:c.G667A:p.D223N,ZNF514:NM_032788:exon5:c.G448A:p.D150N	.	431	1086	5	0	0	5	0.00229674	.	.	.	2453410	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.046	0.0012703278923	.	.	1.647e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs765126553	8.893e-06	8.893e-06	1.089e-05	6.875e-06	0.0002	4.96e-06	3.82e-06	2.194e-05	1.43e-05	0	0	0	0	0	0.0002	4.496e-06	3.311e-05	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.511	0.07473	T	0.559	0.09144	T	0.0	0.02946	B	0.003	0.08700	B	.	.	.	.	0.999995	0.08975	N	0.75	0.19020	N	3.5	0.05014	T	-0.74	0.20791	N	0.09	0.06854	-0.9614	0.38916	T	0.011	0.04088	T	9	0.048018277	0.04197	T	0.00127	0.01733	T	0.046	0.12618	0.545	0.65873	0.208000267992	0.20380	0.02177175760786996	0.02129	0.0391618071246	0.04173	0.244533360004	0.03214	T	0.025123	0.18850	T	-0.537408	0.00347	T	-0.807072	0.01732	T	0.0225517343402341	0.00971	T	0.174883	0.01686	T	0.01988252	0.00529	0.029019812	0.01196	0.01988252	0.00529	0.029019812	0.01196	-3.21	0.12603	T	.	.	0.095	0.14706	B	.;.	.;.	0.553274	0.09217	6.001	0.52325745692660997	0.04727	0.00069	0.00489	N	AEFBCI	0.035640	0.04621	N	-1.08797316189328	0.06864	0.317186	-1.09437063746344	0.07810	0.3814027	0.0139203205759582	0.12527	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.18	2.3	0.27735	-0.322000	0.08049	-1.095000	0.06346	-0.193000	0.09282	0.000000	0.06391	0.000000	0.08366	0.567000	0.30579	0.0:0.7452:0.0:0.2548	5.482	0.16020	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.07143	58.44	34	chr2	95150037	.	C	T	58.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.04;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-0.253;SOR=1.609	GT:AD:DP:GQ:PL	0/1:3,2:5:69:69,0,76	6	0	1	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	20786.1	211	chr2	95855549	.	T	C	20786.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.376;DP=1851;ExcessHet=14.2834;FS=10.642;MLEAC=7;MLEAF=0.5;MQ=44.24;MQRankSum=-11.95;QD=11.46;ReadPosRankSum=0.027;SOR=1.217	GT:AD:DP:GQ:PL	0/1:11,4:15:54:54,0,272	0	0	7	0
chr2	95859895	95859895	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4960G:p.T1654A	.	951	467	84	20	0	124	0.117202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.4444	0.4790	0.4373	0.4517	0.4253	0.4197	0.4345	0.4715	0.0150223	391	26028	rs75198192	4.293e-06	9.85e-05	5.648e-06	2.901e-06	2.806e-05	1.54e-06	1.02e-06	.	.	0	2.806e-05	0	0	4.058e-05	0	0	5.178e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.222	0.25748	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999981	0.18198	N	.	.	.	2.33	0.16492	T	-0.27	0.11366	N	0.03	0.00717	-0.9918	0.32141	T	0.020	0.08593	T	9	0.0021876395	0.00032	T	.	.	.	0.035	0.08770	.	.	.	.	0.004573925157677656	0.00430	.	.	0.524144649506	0.42211	T	0.007589	0.06987	T	-0.275691	0.11129	T	-0.633787	0.10130	T	0.00243692789656227	0.00025	T	0.119888	0.00926	T	0.026656736	0.01750	0.04326469	0.05342	0.026656736	0.01750	0.04326469	0.05342	-4.496	0.30836	T	.	.	0.118	0.24260	B	.	.	1.595165	0.20400	14.73	0.67616785214816144	0.08408	0.26935	0.23135	N	AEFI	0.048105	0.08173	N	-0.927352117069161	0.10206	0.4865986	-0.909991846583639	0.11858	0.6066753	7.95608252575671E-5	0.04552	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	0.945000	0.28654	2.286000	0.31928	-0.387000	0.05364	0.808000	0.29825	0.078000	0.22336	0.001000	0.02609	0.0:0.0:0.0:1.0	7.648	0.27501	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1478.13	62	chr2	95859895	.	T	C	1478.13	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.162;DP=395;ExcessHet=14.2834;FS=0;MLEAC=7;MLEAF=0.5;MQ=58.04;MQRankSum=-1.11;QD=3.84;ReadPosRankSum=0.74;SOR=0.678	GT:AD:DP:GQ:PL	0/1:6,1:7:22:22,0,249	0	0	7	0
chr2	95859969	95859969	-	T	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon82:c.4885_4886insA:p.L1629Hfs*4	.	952	362	155	53	0	261	0.264975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4228	0.4631	0.4656	0.4778	0.3159	0.4147	0.4099	0.4349	0.0494083	1286	26028	rs111957693	5.008e-06	5.814e-05	5.648e-06	4.351e-06	.	2.08e-06	1.34e-06	.	.	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5808.1	86	chr2	95859969	.	A	AT	5808.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.067;DP=584;ExcessHet=14.2834;FS=4.534;MLEAC=7;MLEAF=0.5;MQ=59;MQRankSum=-6.302;QD=10.15;ReadPosRankSum=-0.469;SOR=0.952	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,3:7:99:0|1:95859969_A_AT:114,0,159:95859969	0	0	7	0
chr2	95859970	95859970	G	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4885A:p.L1629M	.	957	355	157	53	0	263	0.270298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	.	0.4545	0.4802	0.4743	0.4840	0.3659	0.4484	0.4515	0.4666	0.0009221	24	26028	rs77057279	9.318e-06	0.0001	7.073e-06	1.162e-05	.	5.2e-06	4.01e-06	.	.	0	0	0	0	0.0003	0	0	0	0	0	2.631e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.911	0.02361	T	0.243	0.24193	T	0.053	0.22573	B	0.021	0.19346	B	.	.	.	.	0.994063	0.23594	N	.	.	.	2.42	0.15376	T	1.44	0.00794	N	0.079	0.05414	-0.9807	0.34840	T	0.008	0.02801	T	9	0.0015536547	0.00018	T	.	.	.	0.028	0.06331	.	.	.	.	0.0034729447233706272	0.00324	.	.	0.598522663116	0.52695	T	0.002815	0.02207	T	-0.296982	0.08946	T	-0.664371	0.07975	T	0.000298728606434334	0.00002	T	0.227477	0.03026	T	0.060971648	0.12573	0.043196924	0.05321	0.060971648	0.12573	0.043196924	0.05321	-3.51	0.16572	T	.	.	0.079	0.07224	B	.	.	-0.617261	0.01525	0.098	0.057558437599456599	0.00015	0.02138	0.06301	N	AEFI	0.027961	0.02376	N	-1.81372414748207	0.00512	0.02205084	-1.77419214230889	0.00845	0.0377715	9.60209616443048E-5	0.04910	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-3.7	0.04150	-1.387000	0.02641	-5.763000	0.01604	-0.394000	0.05329	0.245000	0.24799	0.000000	0.08366	0.008000	0.08271	0.2827:0.0:0.3453:0.372	3.712	0.07953	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	5886.14	87	chr2	95859970	.	G	T	5886.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.463;DP=588;ExcessHet=14.2834;FS=4.534;MLEAC=7;MLEAF=0.5;MQ=58.97;MQRankSum=-6.346;QD=10.22;ReadPosRankSum=-0.399;SOR=0.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,3:7:99:0|1:95859969_A_AT:114,0,159:95859969	0	0	7	0
chr2	95859975	95859975	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4880A:p.R1627Q	.	957	354	158	53	0	264	0.271605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	.	.	0.4301	0.4670	0.4743	0.4733	0.3036	0.4236	0.4062	0.4476	0.00073	19	26028	rs77757712	2.22e-05	6.841e-05	2.827e-05	1.597e-05	8.413e-05	1.591e-05	1.386e-05	2.23e-05	1.218e-05	3.172e-05	8.413e-05	0	0	6.31e-05	0	1.855e-05	1.726e-05	3.789e-05	1.316e-05	1.971e-05	1.286e-05	1.348e-05	6.563e-05	2.19e-06	8.2e-07	.	.	0	0	6.563e-05	0	0	0	0	1.471e-05	0	0	0.162	0.23541	T	0.485	0.11725	T	0.055	0.22733	B	0.007	0.12992	B	.	.	.	.	0.999977	0.18612	N	.	.	.	2.42	0.15376	T	-0.1	0.08495	N	0.04	0.01347	-0.9474	0.41414	T	0.010	0.03492	T	9	0.0016048849	0.00019	T	.	.	.	0.036	0.09122	.	.	.	.	0.007547077727271438	0.00720	.	.	0.508793115616	0.40052	T	0.002443	0.01836	T	-0.329346	0.06161	T	-0.710859	0.05250	T	0.00527709899755481	0.00057	T	0.480052	0.14488	T	0.032344773	0.03241	0.03586384	0.02919	0.032344773	0.03241	0.03586384	0.02918	-4.415	0.29759	T	.	.	0.069	0.03231	B	.	.	0.983069	0.13607	10.14	0.66913885358475289	0.08199	0.01513	0.05000	N	AEFI	0.023495	0.01318	N	-1.4910599935179	0.01913	0.08394092	-1.36789013472358	0.03599	0.1682304	1.02737162787131E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.634	0.16889	0.827000	0.27075	-0.579000	0.08386	-0.398000	0.05312	0.991000	0.37257	0.000000	0.08366	0.005000	0.06747	0.0:0.1617:0.0:0.8383	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	5848.14	86	chr2	95859975	.	C	T	5848.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.675;DP=581;ExcessHet=14.2834;FS=3.611;MLEAC=7;MLEAF=0.5;MQ=58.94;MQRankSum=-6.341;QD=10.17;ReadPosRankSum=-0.758;SOR=1.023	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,3:7:99:0|1:95859969_A_AT:114,0,159:95859969	0	0	7	0
chr2	95859988	95859988	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4867G:p.R1623G	.	946	377	143	56	0	255	0.252725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	.	0.3985	0.4181	0.4615	0.4624	0.2601	0.3839	0.3829	0.4293	0.0005763	15	26028	rs78585559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.037	0.51737	D	0.618	0.39878	P	0.296	0.40883	B	.	.	.	.	1	0.08975	P	.	.	.	2.35	0.16217	T	-2.17	0.49018	N	0.036	0.01068	-1.0403	0.17223	T	0.022	0.09284	T	8	0.0021658242	0.00031	T	.	.	.	0.031	0.07369	.	.	.	.	0.01648333609809802	0.01603	.	.	0.464800566435	0.33968	T	0.014368	0.12243	T	-0.283116	0.10340	T	-0.644453	0.09348	T	0.0103390599998185	0.00141	T	0.690331	0.29972	T	0.11867667	0.27957	0.10622412	0.25550	0.11867667	0.27957	0.10622412	0.25549	-4.221	0.27055	T	.	.	0.167	0.36712	B	.	.	1.395340	0.18086	13.54	0.66348352263891242	0.08032	0.01091	0.04015	N	AEFI	0.037962	0.05300	N	-0.829849498643622	0.12552	0.6125249	-0.95288899799542	0.10856	0.5494909	1.69149918813486E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	-0.401000	0.07293	-0.372000	0.09600	0.443000	0.21123	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2013:0.0:0.7987	3.593	0.07545	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	4929.98	80	chr2	95859988	.	T	C	4929.98	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.295;DP=563;ExcessHet=14.2834;FS=2.86;MLEAC=7;MLEAF=0.5;MQ=58.91;MQRankSum=-6.506;QD=9;ReadPosRankSum=-0.371;SOR=0.943	GT:AD:DP:GQ:PL	0/1:4,1:5:10:10,0,84	0	0	7	0
chr2	95860002	95860002	T	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4853T:p.H1618L	.	945	422	104	51	0	206	0.19619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	.	.	0.2918	0.3574	0.4353	0.4062	0.1258	0.3207	0.2719	0.2565	0.0003842	10	26028	rs76379993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.73	0.05165	T	0.898	0.49442	P	0.775	0.57058	P	.	.	.	.	1	0.08975	P	.	.	.	2.2	0.18570	T	-7.35	0.94620	D	0.157	0.16308	-0.9983	0.30395	T	0.066	0.27087	T	8	0.0024163425	0.00036	T	.	.	.	0.098	0.28162	.	.	.	.	0.011885642134936694	0.01148	.	.	0.603820681572	0.53443	T	0.17093	0.51885	T	-0.130986	0.31337	T	-0.425929	0.30399	T	0.0896707485037565	0.11179	T	0.667933	0.27701	T	0.5114563	0.67764	0.4059057	0.64978	0.5114563	0.67765	0.4059057	0.64978	-5.063	0.37516	T	.	.	0.223	0.45409	B	.	.	1.545032	0.19810	14.45	0.68803435199818186	0.08772	0.02181	0.06385	N	AEFI	0.047683	0.08056	N	-0.541266882709805	0.20758	1.096673	-0.816850501380551	0.14087	0.7342697	9.81280304122205E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.873	0.10096	1.014000	0.29553	0.760000	0.21307	0.443000	0.21123	0.026000	0.20160	0.002000	0.18203	0.026000	0.12556	0.2602:0.3442:0.0:0.3955	2.065	0.03383	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	2934.14	77	chr2	95860002	.	T	A	2934.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=1.03;DP=541;ExcessHet=14.2834;FS=3.176;MLEAC=7;MLEAF=0.5;MQ=58.85;MQRankSum=-5.515;QD=5.56;ReadPosRankSum=-0.983;SOR=1.084	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,1:4:33:0|1:95860002_T_A:33,0,123:95860002	0	0	7	0
chr2	95860007	95860007	A	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.T4848A:p.D1616E	.	965	351	153	53	0	259	0.269511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	.	0.3716	0.3968	0.4638	0.4468	0.1996	0.3624	0.3348	0.3997	0.000461	12	26028	rs77658288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.887	0.03161	T	0.886	0.48745	P	0.685	0.53610	P	.	.	.	.	1	0.08975	P	.	.	.	2.36	0.16089	T	0.87	0.01688	N	0.018	0.00252	-1.0311	0.20099	T	0.037	0.16116	T	8	0.0017204583	0.00022	T	.	.	.	0.058	0.16647	0.102	0.01589	.	.	0.0016336715894167176	0.00151	.	.	0.627778291702	0.56830	T	0.00182	0.01242	T	-0.339353	0.05432	T	-0.725233	0.04547	T	0.0127801602154166	0.00217	T	0.50325	0.15827	T	0.05346143	0.10121	0.066788726	0.13731	0.05346143	0.10121	0.066788726	0.13730	-4.052	0.24579	T	.	.	0.276	0.50970	B	.	.	0.679021	0.10477	7.192	0.92075444711269228	0.21422	0.00300	0.01598	N	AEFI	0.017840	0.00496	N	-0.631580650889932	0.18000	0.9310604	-0.811362641984672	0.14221	0.7419123	9.14715249298931E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.608	0.16746	-0.101000	0.10943	-4.154000	0.02312	0.333000	0.19617	0.036000	0.20778	0.000000	0.08366	0.028000	0.12845	0.5619:0.0:0.0:0.4381	4.768	0.12514	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	4227.14	75	chr2	95860007	.	A	T	4227.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=1.06;DP=520;ExcessHet=14.2834;FS=3.946;MLEAC=7;MLEAF=0.5;MQ=58.83;MQRankSum=-5.622;QD=8.26;ReadPosRankSum=-0.949;SOR=1.107	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,1:4:33:0|1:95860002_T_A:33,0,123:95860002	0	0	7	0
chr2	95860020	95860020	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4835T:p.T1612I	.	975	346	149	52	0	253	0.267725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	.	.	0.3429	0.4093	0.4357	0.4212	0.1584	0.3445	0.2982	0.3516	0.0003842	10	26028	rs78780931	7.168e-07	5.473e-06	1.415e-06	0	9.285e-07	0	0	.	.	0	0	0	0	0	0	9.285e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999979	0.18612	P	.	.	.	2.38	0.15843	T	3.02	0.00138	N	0.054	0.02559	-0.9370	0.43088	T	0.010	0.03627	T	8	0.0017494261	0.00022	T	.	.	.	0.071	0.20720	.	.	.	.	0.0033875092255602627	0.00316	.	.	0.597990691662	0.52621	T	2.31E-4	0.00048	T	-0.282657	0.10387	T	-0.643793	0.09394	T	0.00465201252591891	0.00050	T	0.257674	0.04066	T	0.036191136	0.04406	0.044979855	0.05950	0.036191136	0.04405	0.044979855	0.05949	-0.577	0.00632	T	.	.	0.124	0.26042	B	.	.	0.379084	0.07510	4.156	0.096937678722497284	0.00105	0.00352	0.01813	N	AEFI	0.013252	0.00170	N	-1.41969246255212	0.02466	0.1089284	-1.29164163050699	0.04543	0.2145151	1.02751695127801E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.635	0.16895	2.080000	0.41211	-0.435000	0.09196	-1.105000	0.01501	0.995000	0.38783	0.000000	0.08366	0.000000	0.00833	0.8383:0.0:0.1617:0.0	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	3569.07	69	chr2	95860020	.	G	A	3569.07	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.603;DP=481;ExcessHet=14.2834;FS=5.226;MLEAC=6;MLEAF=0.429;MQ=58.68;MQRankSum=-5.391;QD=7.56;ReadPosRankSum=-1.017;SOR=1.106	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,1:4:1:0|1:95860020_G_A:1,0,112:95860020	0	0	7	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	9403.14	109	chr2	95929092	.	T	C	9403.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=2.46;DP=834;ExcessHet=14.2834;FS=2.733;MLEAC=7;MLEAF=0.5;MQ=47.24;MQRankSum=-7.649;QD=11.37;ReadPosRankSum=-2.432;SOR=0.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:49:0|1:95929092_T_C:49,0,197:95929092	0	0	7	0
chr2	95929110	95929110	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.T1799C:p.I600T	.	444	879	199	0	0	199	0.101686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	.	.	.	0.0502	0.0563	0.0250	0.0339	0.0515	0.0474	0.0455	0.0855	0.0009221	24	26028	rs80159651	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.17	0.78199	T	-0.21	0.10308	N	0.064	0.13911	-0.7459	0.58149	T	0.297	0.66886	T	6	0.0053180456	0.00117	T	.	.	.	0.230	0.53062	.	.	.	.	0.00358464158390252	0.00335	.	.	.	.	.	5.76E-4	0.00232	T	-0.102964	0.35934	T	-0.385677	0.35058	T	0.00148509498065692	0.00015	T	0.430857	0.15541	T	0.03336381	0.03541	0.041758195	0.04819	0.03336381	0.03540	0.041758195	0.04819	-5.849	0.49914	T	.	.	0.141	0.47448	B	.;.	.;.	1.598186	0.20432	14.75	0.94716897870735495	0.25385	0.00401	0.02002	N	AEFI	0.028900	0.02629	N	-0.753193177697584	0.14546	0.7255317	-1.00196959350196	0.09742	0.4864572	9.46784315172941E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.637	0.10926	0.215000	0.17352	-1.249000	0.05911	0.351000	0.19951	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.4587:0.0:0.0:0.5413	2.815	0.05119	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	10904.1	122	chr2	95929110	.	A	G	10904.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=7.44;DP=933;ExcessHet=14.2834;FS=9.276;MLEAC=7;MLEAF=0.5;MQ=45.86;MQRankSum=-7.496;QD=11.78;ReadPosRankSum=-1.573;SOR=1.331	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,1:6:27:0|1:95929092_T_C:27,0,207:95929092	0	0	7	0
chr2	95929126	95929126	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1783T:p.D595Y	.	442	865	215	0	0	215	0.11054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	.	.	.	0.0287	0.0327	0.0149	0.0205	0.0260	0.0277	0.0293	0.0461	0.0009221	24	26028	rs79434735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.96	0.75553	T	-1.05	0.27463	N	0.094	0.37717	-0.7052	0.60188	T	0.302	0.67344	T	6	0.007255286	0.00165	T	.	.	.	0.242	0.54781	.	.	.	.	0.01955586045237903	0.01909	.	.	.	.	.	0.003986	0.03393	T	-0.0187037	0.49039	T	-0.264643	0.48358	T	0.00831936897839858	0.00100	T	0.876612	0.58915	D	0.08026257	0.18380	0.06422837	0.12840	0.08026257	0.18380	0.06422837	0.12840	-7.935	0.60626	D	.	.	0.193	0.50147	B	.;.	.;.	1.372804	0.17831	13.39	0.93504610952685097	0.23313	0.02178	0.06379	N	AEFI	0.025243	0.01698	N	-0.59865468081622	0.18985	0.9901359	-0.821302082525131	0.13979	0.7281023	1.38702267383256E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	-0.066000	0.11556	0.673000	0.20610	0.284000	0.18682	0.001000	0.13787	0.001000	0.17328	0.010000	0.09038	0.0:1.0:0.0:0.0	5.051	0.13847	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	14878.1	133	chr2	95929126	.	C	A	14878.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=2.97;DP=1096;ExcessHet=14.2834;FS=16.644;MLEAC=7;MLEAF=0.5;MQ=44.44;MQRankSum=-8.355;QD=13.59;ReadPosRankSum=-0.916;SOR=1.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:69:0|1:95929126_C_A:69,0,204:95929126	0	0	7	0
chr2	95929130	95929130	G	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.C1779G:p.D593E	.	442	863	217	0	0	217	0.111683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	.	.	0.0281	0.0314	0.0152	0.0199	0.0259	0.0271	0.0289	0.0443	0.0009221	24	26028	rs375866621	5.512e-06	6.156e-06	6.857e-06	4.153e-06	7.204e-06	2.37e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.204e-06	0	0	6.603e-06	6.573e-06	1.29e-05	0	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	1.0	0.00964	T	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.99	0.75911	T	-0.17	0.09627	N	0.012	0.01274	-0.9830	0.34305	T	0.120	0.41886	T	6	0.0062747	0.00142	T	.	.	.	0.082	0.23913	0.088	0.00943	.	.	0.0012585486106362017	0.00115	.	.	.	.	.	6.61E-4	0.00291	T	-0.22299	0.17588	T	-0.558086	0.16556	T	0.0056942431256175	0.00062	T	0.361264	0.08382	T	0.030476715	0.02717	0.028199261	0.01033	0.030476715	0.02717	0.028199261	0.01033	1.103	0.00153	T	.	.	0.184	0.39898	B	.;.	.;.	-0.102250	0.03628	0.719	0.82362292130898662	0.14152	0.00009	0.00143	N	AEFI	0.011962	0.00118	N	-1.12759496650573	0.06156	0.2826552	-1.32800364383948	0.04072	0.1913117	8.82048009805059E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0539	0.13146	0.175000	0.16577	-0.796000	0.07394	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5966:0.4034:0.0	4.774	0.12542	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	16069.1	136	chr2	95929130	.	G	C	16069.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=5.74;DP=1133;ExcessHet=14.2834;FS=18.396;MLEAC=7;MLEAF=0.5;MQ=43.98;MQRankSum=-8.318;QD=14.18;ReadPosRankSum=-1.245;SOR=1.786	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:69:0|1:95929126_C_A:69,0,204:95929126	0	0	7	0
chr2	95929135	95929135	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1774A:p.D592N	.	440	860	222	0	0	222	0.114315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	.	0.0258	0.0286	0.0139	0.0184	0.0245	0.0251	0.0266	0.0399	0.0009221	24	26028	rs111462973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.31	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.0	0.76037	T	-0.29	0.11728	N	0.04	0.12341	-0.9745	0.36235	T	0.178	0.52334	T	6	0.0032269955	0.00055	T	.	.	.	0.061	0.17616	.	.	.	.	0.004280505726367948	0.00402	.	.	.	.	.	0.002625	0.02014	T	-0.209791	0.19408	T	-0.539127	0.18382	T	0.0104211887073546	0.00143	T	0.69513	0.30474	T	0.054424945	0.10441	0.04548125	0.06130	0.054424945	0.10440	0.04548125	0.06129	-6.736	0.52081	T	.	.	0.134	0.35352	B	.;.	.;.	2.140902	0.27259	17.40	0.99632098778018607	0.76081	0.00615	0.02724	N	AEFI	0.027355	0.02221	N	-0.807133128301253	0.13128	0.6445496	-1.03707422889346	0.08978	0.4441984	8.83579175512005E-6	0.01202	0.651	0.46895	0	0.653731	0.59785	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0868	0.13014	0.656000	0.24632	0.771000	0.21396	0.284000	0.18682	0.006000	0.17386	0.005000	0.19230	0.009000	0.08673	0.0:0.6672:0.0:0.3328	3.151	0.06100	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	16878.1	136	chr2	95929135	.	C	T	16878.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=4.46;DP=1199;ExcessHet=14.2834;FS=19.883;MLEAC=7;MLEAF=0.5;MQ=43.39;MQRankSum=-8.146;QD=14.46;ReadPosRankSum=-1.214;SOR=1.834	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:69:0|1:95929126_C_A:69,0,204:95929126	0	0	7	0
chr2	96699651	96699651	T	C	exonic	FER1L5	.	nonsynonymous SNV	FER1L5:NM_001293083:exon43:c.T4712C:p.V1571A	.	420	1096	6	0	0	6	0.00272975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.313e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.60972	D	.	.	.	.	.	.	0.327729	0.14166	U	0.571232	.	.	.	.	.	.	.	.	.	.	.	.	0.255	0.37197	-0.3890	0.72374	T	0.255	0.62507	T	8	0.27155256	0.44694	T	.	.	.	.	.	0.547	0.66156	0.115124310173	0.11017	0.7516688496969532	0.75113	.	.	0.424351990223	0.28435	T	.	.	.	0.026083	0.55199	T	-0.20031	0.54618	T	0.395594328641891	0.28776	T	0.963304	0.86380	D	0.073254876	0.16357	0.21336676	0.45844	0.073254876	0.16356	0.21336676	0.45843	-6.132	0.47371	T	.	.	0.265	0.56091	B	.;.;.;.	.;.;.;.	3.103382	0.41828	21.4	0.80896415409605515	0.13421	0.35694	0.25361	N	AEFBI	.	.	.	0.0956850067433394	0.46261	2.869229	0.0287700086971241	0.41058	2.460319	0.998427502813618	0.36942	0.078448	0.01964	0	0.060609	0.00678	0	0.083675	0.02720	0	0.050693	0.00103	0	0.811976	0.48258	5.29	4.14	0.47821	0.861000	0.27540	5.109000	0.47498	0.665000	0.62972	0.026000	0.20160	0.999000	0.35428	0.994000	0.71098	0.0:0.1678:0.0:0.8322	7.973	0.29302	187	0.92701	C2 domain|C2 domain|C2 domain|Ferlin, fifth C2 domain;C2 domain|C2 domain|C2 domain|Ferlin, fifth C2 domain;C2 domain|C2 domain|C2 domain|Ferlin, fifth C2 domain;C2 domain|C2 domain|C2 domain|Ferlin, fifth C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	67.44	35	chr2	96699651	.	T	C	67.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.792;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=0.697;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,4:7:68:78,0,68	6	0	1	0
chr2	96840278	96840278	A	-	exonic	ANKRD23	.	frameshift deletion	ANKRD23:NM_144994:exon6:c.578delT:p.L193Pfs*44	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	43.4	38	chr2	96840277	.	GA	G	43.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.282;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.82;ReadPosRankSum=1.38;SOR=0.495	GT:AD:DP:GQ:PL	0/1:7,2:9:54:54,0,255	6	0	1	0
chr2	97185337	97185337	C	-	exonic	ANKRD36	.	frameshift deletion	ANKRD36:NM_001354587:exon29:c.1961delC:p.S655Qfs*12	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402796432	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	1449.44	53	chr2	97185336	.	GC	G	1449.44	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.298;DP=592;ExcessHet=8.2628;FS=4.126;MLEAC=6;MLEAF=0.429;MQ=47.3;MQRankSum=-4.911;QD=2.72;ReadPosRankSum=-0.416;SOR=0.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:69:0|1:97185336_GC_G:69,0,204:97185336	1	0	6	0
chr2	97185340	97185340	C	G	exonic	ANKRD36	.	stopgain	ANKRD36:NM_001354587:exon29:c.C1964G:p.S655X	.	497	736	288	1	0	290	0.164586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs961387199	6.861e-07	2.052e-06	1.365e-06	0	2.527e-05	0	0	.	.	0	0	0	2.527e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.289078	0.09729	T	-0.653017	0.08744	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;Tolerant	High;High	2.985359	0.39833	21.0	0.68029575050880731	0.08533	0.00253	0.01392	N	AEFI	0.017170	0.00433	N	-0.957463532196475	0.09526	0.4512341	-1.36962598911469	0.03580	0.1672776	1.88742451027402E-5	0.02871	0.651	0.46895	0	0.633656	0.55848	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	1.06	-2.12	0.06766	-0.027000	0.12319	-1.673000	0.04942	-4.347000	0.00032	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.3106:0.2305:0.0:0.4589	1.483	0.02294	216	0.91608	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	1427.48	54	chr2	97185340	.	C	G	1427.48	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.163;DP=596;ExcessHet=8.2628;FS=2.936;MLEAC=6;MLEAF=0.429;MQ=47.07;MQRankSum=-4.73;QD=2.65;ReadPosRankSum=0.212;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,2:8:66:0|1:97185336_GC_G:66,0,246:97185336	1	0	6	0
chr2	97185341	97185341	-	G	exonic	ANKRD36	.	frameshift insertion	ANKRD36:NM_001354587:exon29:c.1965_1966insG:p.K656Efs*5	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297719451	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	1421.44	55	chr2	97185341	.	A	AG	1421.44	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.101;DP=598;ExcessHet=8.2628;FS=2.924;MLEAC=6;MLEAF=0.429;MQ=46.99;MQRankSum=-4.73;QD=2.63;ReadPosRankSum=0.2;SOR=0.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,2:8:66:0|1:97185336_GC_G:66,0,246:97185336	1	0	6	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	1417.44	57	chr2	97185345	.	GTAAT	G	1417.44	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.295;DP=624;ExcessHet=8.2628;FS=5.664;MLEAC=6;MLEAF=0.429;MQ=46.33;MQRankSum=-4.278;QD=2.5;ReadPosRankSum=0.674;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,2:8:66:0|1:97185336_GC_G:66,0,246:97185336	1	0	6	0
chr2	97513253	97513253	A	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.T2732C:p.V911A	.	594	617	279	32	0	343	0.217502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0083	0	0	0	0.0008	0	0	3.84e-05	1	26028	rs80295552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.23914	T	0.008	0.14655	B	0.002	0.06944	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.109	0.12627	.	.	.	.	.	.	.	0.00813821	0.00185	T	.	.	.	.	.	.	.	0.216624796971	0.21254	0.003043674037080383	0.00283	.	.	0.697517633438	0.66786	T	0.028597	0.20678	T	-0.148518	0.28543	T	-0.451112	0.27575	T	.	.	.	0.321068	0.06505	T	0.015220522	0.00128	0.050442122	0.07918	0.015220522	0.00128	0.050442122	0.07917	-2.994	0.10116	T	.	.	0.23	0.46273	B	.;.;.	.;.;.	0.168625	0.05582	2.036	0.46468697738120324	0.03724	0.00493	0.02333	N	AEFI	.	.	.	.	.	.	.	.	.	1.09581247054722E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	0.037	0.13512	-0.176000	0.09802	-1.469000	0.05369	-0.632000	0.04510	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.5217:0.0:0.4783:0.0	4.080	0.09400	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000639	0.000000	0.002857	0.004630	0.000000	0.000000	0.000000	0.000000	0.5	21976.1	130	chr2	97513253	.	A	G	21976.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.633;DP=1084;ExcessHet=14.2834;FS=1.729;MLEAC=7;MLEAF=0.5;MQ=38.62;MQRankSum=-5.367;QD=20.46;ReadPosRankSum=-0.152;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,1:3:36:0|1:97513244_G_T:36,0,81:97513244	0	0	7	0
chr2	97513254	97513254	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2731A:p.V911M	.	594	616	280	32	0	344	0.218274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0076	0	0	0	0.0011	0	0	7.68e-05	2	26028	rs74341509	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0	0.0002	0.0002	0	8.256e-05	9.122e-05	7.317e-05	9.244e-05	0.0002	4.621e-05	3.529e-05	9.276e-05	7.178e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.098	0.39040	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.115	0.14480	.	.	.	.	.	.	.	0.008039981	0.00183	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.004376723944163083	0.00411	.	.	0.681571960449	0.64493	T	0.010384	0.09385	T	-0.177895	0.24050	T	-0.493311	0.23044	T	.	.	.	0.538946	0.18179	T	0.01859633	0.00382	0.05722728	0.10366	0.01859633	0.00382	0.05722728	0.10366	-3.253	0.13139	T	.	.	0.167	0.37746	B	.;.;.	.;.;.	0.527632	0.08965	5.745	0.40177876468154022	0.02819	0.00378	0.01916	N	AEFI	.	.	.	.	.	.	.	.	.	1.15642168101809E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	-0.662	0.10840	-0.590000	0.05854	-9.274000	0.00843	0.304000	0.19002	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.0:0.6788:0.0:0.3212	5.565	0.16451	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006345	0.000000	0.005682	0.000000	0.000000	0.000000	0.008264	0.008696	0.5	21979.1	129	chr2	97513254	.	C	T	21979.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.182;DP=1084;ExcessHet=14.2834;FS=1.105;MLEAC=7;MLEAF=0.5;MQ=38.6;MQRankSum=-5.281;QD=20.48;ReadPosRankSum=-0.089;SOR=0.8	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,1:3:36:0|1:97513244_G_T:36,0,81:97513244	0	0	7	0
chr2	97513268	97513268	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2717A:p.R906K	.	591	591	298	42	0	382	0.244246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2502	0.2966	0.2791	0.2632	0.3769	0.2470	0.2431	0.1747	0.0004995	13	26028	rs144131603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.27235	T	0.119	0.26641	B	0.008	0.13708	B	.	.	.	.	.	.	.	1.495	0.37439	L	.	.	.	.	.	.	0.042	0.16028	.	.	.	.	.	.	.	0.002357304	0.00035	T	.	.	.	.	.	.	.	.	.	0.005747616653950952	0.00544	.	.	0.613570392132	0.54820	T	0.017136	0.14032	T	-0.187866	0.22573	T	-0.507633	0.21559	T	.	.	.	0.572743	0.20478	T	0.03131732	0.02950	0.0672792	0.13896	0.03131732	0.02950	0.0672792	0.13896	-3.791	0.20670	T	.	.	0.137	0.29968	B	.;.;.	.;.;.	-1.310648	0.00429	0.009	0.36842002943516644	0.02393	0.00779	0.03201	N	AEFI	.	.	.	.	.	.	.	.	.	1.25854079706441E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	0.308	0.15062	-1.265000	0.02953	-5.898000	0.01560	-1.898000	0.00526	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7823:0.0:0.2177	5.370	0.15434	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.308701	0.315385	0.320055	0.309735	0.250000	0.263158	0.341912	0.338843	0.5	23134.1	135	chr2	97513268	.	C	T	23134.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.204;DP=1127;ExcessHet=14.2834;FS=1.103;MLEAC=7;MLEAF=0.5;MQ=39;MQRankSum=-5.273;QD=20.6;ReadPosRankSum=-0.689;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,1:3:36:0|1:97513268_C_T:36,0,81:97513268	0	0	7	0
chr2	97513270	97513270	A	C	exonic	ANKRD36B	.	stopgain	ANKRD36B:NM_025190:exon38:c.T2715G:p.Y905X	.	591	592	298	41	0	380	0.242967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2438	0.2932	0.2713	0.2615	0.3746	0.2394	0.2372	0.1697	0.0005763	15	26028	rs879468063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.361473	0.04047	T	-0.757008	0.03221	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.385426	0.46848	22.4	0.44838944251633817	0.03476	0.03038	0.07927	N	AEFI	.	.	.	.	.	.	.	.	.	1.13426159498125E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.166916	0.28634	1.25	0.017	0.13431	-0.091000	0.11111	-1.488000	0.05326	0.375000	0.20354	0.013000	0.18845	0.000000	0.08366	0.003000	0.05239	0.7855:0.0:0.2145:0.0	4.462	0.11093	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.323424	0.318182	0.331044	0.327434	0.333333	0.307018	0.349265	0.347107	0.5	20800.1	137	chr2	97513270	.	A	C	20800.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.107;DP=1138;ExcessHet=14.2834;FS=1.1;MLEAC=7;MLEAF=0.5;MQ=39.03;MQRankSum=-5.362;QD=18.37;ReadPosRankSum=-0.967;SOR=0.801	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,1:3:36:0|1:97513268_C_T:36,0,81:97513268	0	0	7	0
chr2	97513271	97513271	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2714G:p.Y905C	.	591	590	299	42	0	383	0.245042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2908	0.3387	0.3276	0.3085	0.4114	0.2887	0.2821	0.2034	0.0006531	17	26028	rs146893214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.56640	T	0.022	0.18677	B	0.002	0.06944	B	.	.	.	.	.	.	.	1.14	0.29013	L	.	.	.	.	.	.	0.149	0.51315	.	.	.	.	.	.	.	0.0020657778	0.00029	T	.	.	.	.	.	.	.	.	.	0.004479552258500605	0.00420	.	.	0.829705476761	0.86516	D	0.127676	0.45486	T	0.00706366	0.52624	T	-0.22763	0.52001	T	.	.	.	0.424058	0.11326	T	0.08367851	0.19332	0.12435671	0.29977	0.08367851	0.19332	0.12435671	0.29976	-3.342	0.14285	T	.	.	0.228	0.46049	B	.;.;.	.;.;.	2.163208	0.27562	17.50	0.45197924751744767	0.03530	0.10868	0.16248	N	AEFI	.	.	.	.	.	.	.	.	.	1.47313282737101E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	1.25	0.20475	2.350000	0.43718	-0.293000	0.10176	0.334000	0.19664	0.983000	0.35670	0.000000	0.08366	0.004000	0.06068	0.0:0.2551:0.0:0.7449	3.086	0.05898	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.421021	0.365672	0.435440	0.398230	0.416667	0.385965	0.470588	0.438017	0.5	23472.1	137	chr2	97513271	.	T	C	23472.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.301;DP=1143;ExcessHet=14.2834;FS=1.103;MLEAC=7;MLEAF=0.5;MQ=39.04;MQRankSum=-5.362;QD=20.59;ReadPosRankSum=-0.917;SOR=0.786	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,1:3:36:0|1:97513268_C_T:36,0,81:97513268	0	0	7	0
chr2	97513281	97513281	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2704A:p.E902K	.	587	587	303	45	0	393	0.250798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4801	0.5496	0.4874	0.4823	0.5076	0.4642	0.4639	0.4735	0.0017529	271	154602	rs5011473	3.077e-05	0.0002	3.34e-05	2.81e-05	0.0001	2.332e-05	2.077e-05	3.145e-05	1.671e-05	0.0001	0	0	0	0.0007	0	2.729e-06	0	0	0	9.135e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.094	0.41573	T	0.98	0.59353	D	0.855	0.60933	P	.	.	.	.	.	.	.	1.765	0.45800	L	.	.	.	.	.	.	0.208	0.65758	.	.	.	.	.	.	.	0.002158165	0.00031	T	.	.	.	.	.	.	.	.	.	0.03228563945784759	0.03176	.	.	0.789947628975	0.80434	T	0.190084	0.54451	T	0.0749938	0.61451	D	-0.130053	0.60967	T	.	.	.	0.733627	0.34942	T	0.02507305	0.01405	0.09507035	0.22531	0.02507305	0.01404	0.09507035	0.22530	-6.657	0.51486	T	.	.	0.139	0.30476	B	.;.;.	.;.;.	2.117809	0.26958	17.30	0.4037492673049709	0.02845	0.56632	0.30167	D	AEFI	.	.	.	.	.	.	.	.	.	1.05171682619281E-5	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.167599	0.28683	1.4	1.4	0.21393	3.749000	0.54867	0.048000	0.13961	-0.659000	0.04360	1.000000	0.71638	0.001000	0.17328	0.002000	0.04165	0.0:1.0:0.0:0.0	8.752	0.33786	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.529548	0.601351	0.515110	0.508696	0.416667	0.517241	0.552448	0.516393	0.5	23449.1	142	chr2	97513281	.	C	T	23449.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.063;DP=1159;ExcessHet=14.2834;FS=1.102;MLEAC=7;MLEAF=0.5;MQ=39.29;MQRankSum=-5.39;QD=20.41;ReadPosRankSum=-0.462;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,1:3:36:0|1:97513268_C_T:36,0,81:97513268	0	0	7	0
chr2	97513354	97513354	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2631G:p.I877M	.	663	628	207	24	0	255	0.168762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4962	0.4838	0.4975	0.4959	0.5008	0.4970	0.4959	0.4971	0.0692716	1803	26028	rs879259208	1.426e-06	2.057e-06	1.417e-06	1.436e-06	9.218e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.218e-07	1.742e-05	0	3.782e-05	4.181e-05	5.896e-05	1.554e-05	0.0004	1.406e-05	9.03e-06	0.0001	9.02e-05	0	0	0.0004	0	0	0	0	0	0	0	.	.	.	0.093	0.39799	T	0.563	0.38396	P	0.061	0.26820	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.086	0.34120	.	.	.	.	.	.	.	0.00250566	0.00038	T	.	.	.	.	.	.	.	.	.	0.005410322706841144	0.00512	.	.	0.634645044804	0.57804	T	0.046049	0.27308	T	-0.0562864	0.43486	T	-0.318628	0.42725	T	.	.	.	0.682432	0.29103	T	0.06877274	0.15009	0.14055093	0.33500	0.06877274	0.15009	0.14055093	0.33499	-5.398	0.40900	T	.	.	0.175	0.41387	B	.;.;.	.;.;.	2.260359	0.28881	17.94	0.78590890435183058	0.12367	0.19138	0.20543	N	AEFI	.	.	.	.	.	.	.	.	.	1.43761767599795E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.223356	0.04673	0	0.0910582	0.20564	1.4	1.4	0.21393	0.366000	0.20099	-0.250000	0.10515	0.334000	0.19664	0.995000	0.38783	0.000000	0.08366	0.026000	0.12556	0.3508:0.0:0.0:0.6492	3.561	0.07435	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.493015	0.474026	0.484848	0.500000	0.500000	0.517241	0.503597	0.495868	0.5	4532.09	85	chr2	97513354	.	T	C	4532.09	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.484;DP=650;ExcessHet=14.2834;FS=0;MLEAC=7;MLEAF=0.5;MQ=40.44;MQRankSum=-2.424;QD=7.23;ReadPosRankSum=0.855;SOR=0.702	GT:AD:DP:GQ:PL	0/1:2,1:3:16:16,0,40	0	0	7	0
chr2	108259015	108259015	G	0	exonic	SULT1C3	.	.	.	.	441	128	465	180	308	1133	0.763182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	6150.48	116	chr2	108259015	.	G	*	6150.48	.	AC=10;AF=0.714;AN=14;DP=903;ExcessHet=0.3476;FS=0;MLEAC=10;MLEAF=0.714;MQ=60;QD=7.4;SOR=0.598	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,13:13:39:.:.:585,39,0:.	0	3	4	0
chr2	113132707	113132707	G	A	exonic	IL1RN	.	nonsynonymous SNV	IL1RN:NM_173842:exon4:c.G370A:p.A124T,IL1RN:NM_000577:exon5:c.G316A:p.A106T,IL1RN:NM_001379360:exon5:c.G268A:p.A90T,IL1RN:NM_173841:exon6:c.G379A:p.A127T,IL1RN:NM_173843:exon6:c.G268A:p.A90T,IL1RN:NM_001318914:exon7:c.G268A:p.A90T	Interleukin 1 receptor antagonist deficiency, Autosomal recessive	0	1505	17	0	0	17	0.00561612	.	.	.	448759	not_provided|Sterile_multifocal_osteomyelitis_with_periostitis_and_pustulosis|IL1RN-related_disorder|Autoinflammatory_syndrome	MedGen:C3661900|MONDO:MONDO:0013021,MedGen:C2748507,OMIM:612852,Orphanet:210115|.|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.029	.	0.0009	0.00479233	0.0030	0.0011	0.0007	0.0143	0	0.0009	0.0033	0.0094	0.0026326	407	154602	rs45507693	0.0014	0.0014	0.0012	0.0016	0.0123	0.0013	0.0013	0.0100	0.0095	0.0009	0.0007	0.0047	0.0107	0	0.0123	0.0004	0.0030	0.0081	0.0013	0.0013	0.0011	0.0014	0.0106	0.0011	0.0011	0.0084	0.0076	0.0008	0	0.0010	0.0052	0.0106	0	0.0068	0.0005	0.0028	0.0066	1.0	0.00964	T	1.0	0.01155	T	0.002	0.15914	B	0.006	0.18783	B	0.008667	0.30726	N	0.390178	0.999912	0.19599	N	-1.63	0.00401	N	3.02	0.08986	T	2.52	0.00229	N	0.05	0.02179	-0.9366	0.43149	T	0.004	0.01400	T	10	0.008407414	0.00191	T	.	.	.	0.029	0.06676	.	.	0.242825505644	0.23883	0.5592029854060361	0.55847	0.0529077588486	0.05834	0.289524585009	0.08853	T	0.125073	0.45053	T	-0.703256	0.00035	T	-0.769981	0.02768	T	1.88654503290309e-05	0.00000	T	0.157184	0.01392	T	0.075816624	0.17107	0.05437313	0.09340	0.113247275	0.26747	0.058866408	0.10952	-0.639	0.01064	T	0.039757481599584636	0.00332	0.061	0.02733	B	.;.;.;.;.	.;.;.;.;.	-0.273803	0.02735	0.363	0.59931702614615556	0.06341	0.01521	0.05017	N	AEFBI	0.066869	0.13117	N	-1.64792111267281	0.01044	0.04527927	-1.48801726331597	0.02442	0.1123296	0.991469403513662	0.32498	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.8	-0.802	0.10340	-0.103000	0.10909	-0.086000	0.12117	-1.234000	0.01323	0.303000	0.25352	0.000000	0.08366	0.041000	0.14368	0.5105:0.0:0.3735:0.116	6.543	0.21588	591	0.68823	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.010101	0.013587	0.023392	0.000000	0.000000	0.003049	0.007576	0.1429	738.24	34	chr2	113132707	.	G	A	738.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.38;DP=244;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=0.368;SOR=0.654	GT:AD:DP:GQ:PL	0/1:5,6:11:99:147,0,123	5	0	2	0
chr2	119464151	119464151	T	C	exonic	SCTR	.	nonsynonymous SNV	SCTR:NM_002980:exon6:c.A608G:p.D203G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00396807400138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.959	0.02102	T	0.348	0.17585	T	0.01	0.15535	B	0.042	0.24114	B	0.009696	0.30245	N	0.230437	0.993763	0.42045	D	0.51	0.13489	N	1.41	0.33412	T	-1.23	0.31170	N	0.311	0.35088	-1.0368	0.18295	T	0.032	0.13942	T	10	0.13941738	0.26509	T	0.003968	0.09400	T	0.084	0.24469	0.412	0.44887	0.529361283073	0.52585	0.26130517237575657	0.26043	0.137908157102	0.15549	0.473214328289	0.35123	T	0.133331	0.46394	T	-0.261271	0.12751	T	-0.613074	0.11735	T	0.278411597013474	0.24104	T	0.166983	0.28920	T	0.5270554	0.68663	0.14969501	0.35334	0.5270554	0.68664	0.14969501	0.35333	-3.463	0.15917	T	.	.	0.094	0.18950	B	.;.;.	.;.;.	4.116587	0.61501	24.3	0.70807622855558949	0.09417	0.91200	0.53056	D	AEFDGBHCI	0.670165	0.63734	D	-0.495604289503862	0.22225	1.185187	-0.331300113746595	0.27093	1.50102	0.99989139751208	0.45129	0.533608	0.22052	0	0.588066	0.40923	0	0.685742	0.62368	0	0.564101	0.26826	0	.	.	5.24	5.24	0.72863	5.803000	0.68791	4.920000	0.46033	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.007000	0.07825	0.0:0.0815:0.0:0.9185	9.016	0.35333	932	0.16191	GPCR, family 2-like;GPCR, family 2-like;GPCR, family 2-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	36	chr2	119464151	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr2	120984646	120984646	C	T	exonic	GLI2	.	nonsynonymous SNV	GLI2:NM_001374354:exon11:c.C1433T:p.T478M,GLI2:NM_001371271:exon12:c.C1859T:p.T620M,GLI2:NM_001374353:exon12:c.C1808T:p.T603M,GLI2:NM_005270:exon12:c.C1859T:p.T620M	Culler-Jones syndrome, Autosomal dominant;Holoprosencephaly 9, Autosomal dominant	0	1484	37	1	0	39	0.0129697	.	.	.	223606	Holoprosencephaly_9|Postaxial_polydactyly-anterior_pituitary_anomalies-facial_dysmorphism_syndrome|not_specified|not_provided|Anophthalmia-microphthalmia_syndrome|Bardet-Biedl_syndrome	MONDO:MONDO:0012563,MedGen:C1835819,OMIM:610829,Orphanet:2162|MONDO:MONDO:0014369,MedGen:C4014479,OMIM:615849,Orphanet:420584|MedGen:CN169374|MedGen:C3661900|MedGen:C5680330,Orphanet:98555|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.062	.	0.0008	0.00219649	0.0026	0.0004	0.0003	0.0001	0	0.0019	0.0045	0.0107	0.0023738	367	154602	rs142775128	0.0021	0.0021	0.0018	0.0024	0.0104	0.0020	0.0020	0.0098	0.0096	0.0001	0.0005	0.0037	5.038e-05	0.0002	0.0055	0.0016	0.0026	0.0104	0.0013	0.0013	0.0012	0.0014	0.0089	0.0011	0.0011	0.0068	0.0060	0.0004	0	0.0006	0.0035	0.0004	9.411e-05	0.0068	0.0016	0.0014	0.0089	0.122	0.27663	T	0.037	0.51737	D	0.832	0.46138	P	0.226	0.38054	B	0.515791	0.11796	N	0.806041	1	0.08975	N	0.69	0.16971	N	2.47	0.14783	T	-1.5	0.36586	N	0.185	0.20129	-1.0557	0.12855	T	0.031	0.13504	T	10	0.00654158	0.00148	T	.	.	.	0.062	0.17934	.	.	0.339440827056	0.33553	0.23877867945309053	0.23791	0.465526152677	0.45986	0.310651242733	0.12005	T	0.441684	0.78613	T	-0.588781	0.00170	T	-0.609125	0.12055	T	0.00664244789238777	0.00074	T	0.612939	0.23352	T	0.03308176	0.03456	0.04148887	0.04728	0.036132056	0.04387	0.037408102	0.03388	-4.641	0.32683	T	.	.	0.082	0.08948	B	.;.	.;.	1.907197	0.24225	16.32	0.92458925033073125	0.21885	0.20783	0.21167	N	AEFDBI	0.278556	0.39281	N	-0.546217494471762	0.20602	1.087282	-0.623952830292463	0.18879	1.010464	0.999553440065076	0.40362	0.706548	0.73137	0	0.610034	0.51514	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	4.9	3.08	0.34576	2.217000	0.42521	.	.	0.599000	0.40250	0.005000	0.17040	0.138000	0.23065	0.000000	0.00833	0.0:0.7701:0.1528:0.0771	9.809	0.39978	697	0.58201	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.001359	0.005848	0.000000	0.000000	0.006098	0.003788	0.07143	186.44	38	chr2	120984646	.	C	T	186.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.048;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=0.328;SOR=0.593	GT:AD:DP:GQ:PL	0/1:5,9:14:97:197,0,97	6	0	1	0
chr2	127261332	127261332	C	T	exonic	ERCC3	.	nonsynonymous SNV	ERCC3:NM_000122:exon13:c.G1960A:p.E654K,ERCC3:NM_001303416:exon13:c.G1768A:p.E590K,ERCC3:NM_001303418:exon13:c.G1768A:p.E590K	Trichothiodystrophy 2, photosensitive, Autosomal recessive;Xeroderma pigmentosum, group B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	137857	Inborn_genetic_diseases|ERCC3-related_disorder|Xeroderma_pigmentosum|not_specified|not_provided	MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0019600,MedGen:C0043346,Orphanet:910|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.573	0.0921337027499	.	0.00119808	0.0005	0	0	0	0	0	0.0011	0.0039	0.0004657	72	154602	rs568193912	0.0003	0.0003	0.0002	0.0004	0.0043	0.0003	0.0002	0.0040	0.0038	3.013e-05	0	0	2.524e-05	0	0.0007	1.817e-06	0.0003	0.0043	0.0001	0.0001	5.139e-05	0.0002	0.0039	8.161e-05	6.718e-05	0.0026	0.0021	0	0	0	0	0	0	0	0	0	0.0039	0.058	0.37750	T	0.304	0.20100	T	0.435	0.35719	B	0.23	0.38212	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.43	0.70455	M	-0.78	0.73631	T	-2.04	0.46842	N	0.86	0.85660	-0.3503	0.73545	T	0.374	0.73257	T	10	0.013566852	0.00287	T	0.092134	0.75837	D	0.573	0.82686	0.592	0.72123	0.80153605913	0.79968	0.6264288377800509	0.62575	0.710522721883	0.61686	0.856978535652	0.90663	D	0.167703	0.51443	T	0.0233872	0.54838	T	0.259028	0.86046	D	0.130165629079882	0.15397	T	0.981502	0.93790	D	0.67651427	0.76782	0.59648716	0.76570	0.58661985	0.71970	0.5277995	0.72718	-12.051	0.85098	D	0.4276522077079099	0.51534	0.785	0.82701	P	.;.	.;.	4.851740	0.79312	27.1	0.99836845823904885	0.91800	0.97846	0.77568	D	AEFDBI	0.823334	0.74347	D	0.310389892951406	0.56680	3.833232	0.386696119311513	0.60745	4.26551	0.999999999855174	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.45	4.45	0.53365	7.615000	0.82207	7.563000	0.60525	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.646	0.88051	970	0.06235	ERCC3/RAD25/XPB helicase, C-terminal domain|Helicase, C-terminal;ERCC3/RAD25/XPB helicase, C-terminal domain|Helicase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.07143	102.44	36	chr2	127261332	.	C	T	102.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.566;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.63;ReadPosRankSum=0.652;SOR=1.022	GT:AD:DP:GQ:PL	0/1:3,4:7:70:113,0,70	6	0	1	0
chr2	144007291	144007291	T	C	exonic	GTDC1	.	nonsynonymous SNV	GTDC1:NM_001284234:exon5:c.A379G:p.S127G,GTDC1:NM_001376313:exon6:c.A766G:p.S256G,GTDC1:NM_001006636:exon7:c.A766G:p.S256G,GTDC1:NM_001164629:exon7:c.A766G:p.S256G,GTDC1:NM_001284233:exon7:c.A766G:p.S256G,GTDC1:NM_001284235:exon7:c.A766G:p.S256G,GTDC1:NM_001354358:exon7:c.A766G:p.S256G,GTDC1:NM_001354360:exon7:c.A766G:p.S256G,GTDC1:NM_001354361:exon7:c.A766G:p.S256G,GTDC1:NM_001376308:exon7:c.A766G:p.S256G,GTDC1:NM_001376311:exon7:c.A766G:p.S256G,GTDC1:NM_001376312:exon7:c.A766G:p.S256G,GTDC1:NM_001376315:exon7:c.A766G:p.S256G,GTDC1:NM_001376316:exon7:c.A766G:p.S256G,GTDC1:NM_001376318:exon7:c.A766G:p.S256G,GTDC1:NM_001376320:exon7:c.A766G:p.S256G,GTDC1:NM_001376321:exon7:c.A766G:p.S256G,GTDC1:NM_001376323:exon7:c.A766G:p.S256G,GTDC1:NM_001376324:exon7:c.A766G:p.S256G,GTDC1:NM_001376330:exon7:c.A766G:p.S256G,GTDC1:NM_024659:exon7:c.A766G:p.S256G,GTDC1:NM_001354354:exon8:c.A766G:p.S256G,GTDC1:NM_001354356:exon8:c.A766G:p.S256G,GTDC1:NM_001376306:exon8:c.A913G:p.S305G,GTDC1:NM_001376307:exon8:c.A766G:p.S256G,GTDC1:NM_001376309:exon8:c.A766G:p.S256G,GTDC1:NM_001376314:exon8:c.A766G:p.S256G,GTDC1:NM_001376317:exon8:c.A913G:p.S305G,GTDC1:NM_001376319:exon8:c.A766G:p.S256G,GTDC1:NM_001284238:exon9:c.A670G:p.S224G,GTDC1:NM_001354355:exon9:c.A310G:p.S104G,GTDC1:NM_001376310:exon9:c.A766G:p.S256G,GTDC1:NM_001376322:exon9:c.A766G:p.S256G,GTDC1:NM_001354350:exon10:c.A310G:p.S104G,GTDC1:NM_001376329:exon10:c.A310G:p.S104G,GTDC1:NM_001354351:exon11:c.A379G:p.S127G	.	434	1081	6	1	0	8	0.00368664	.	.	.	3259265	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.017	0.00753760507508	0.0002	0.000599042	0.0003	0.0002	0.0010	0	0.0002	0.0004	0	6.072e-05	0.0003558	55	154602	rs145763899	0.0003	0.0003	0.0003	0.0003	0.0132	0.0003	0.0003	0.0108	0.0099	0.0004	0.0011	0.0007	0	0.0001	0.0132	0.0002	0.0007	8.118e-05	0.0004	0.0004	0.0004	0.0004	0.0012	0.0003	0.0003	0.0008	0.0007	0.0002	0	0.0012	0.0003	0	9.42e-05	0.0068	0.0004	0.0019	0	0.173	0.25355	T	0.374	0.29945	T	0.02	0.18235	B	0.016	0.17743	B	0.183274	0.17045	N	0.628661	1	0.08975	N	0.83	0.20963	L	0.86	0.47477	T	-0.92	0.30346	N	0.197	0.21710	-1.0225	0.22899	T	0.078	0.31012	T	10	0.011017561	0.00243	T	0.007538	0.20006	T	0.017	0.02790	.	.	0.101711395817	0.09552	0.18037522653695967	0.17956	0.0425100736559	0.04582	0.205392956734	0.00631	T	0.010273	0.09295	T	-0.493747	0.00620	T	-0.539785	0.18316	T	0.00230573723092675	0.00024	T	0.631737	0.24648	T	0.06957517	0.15253	0.056119543	0.09971	0.06957517	0.15253	0.056119543	0.09971	-4.18	0.28008	T	.	.	0.063	0.04517	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.947525	0.13235	9.736	0.87936319782472061	0.17592	0.74955	0.36681	D	AEFGI	0.103639	0.20759	N	-0.829466545072014	0.12561	0.6130462	-0.739028031851684	0.15993	0.843863	0.320770404121516	0.19382	0.693126	0.56070	0	0.659464	0.62310	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.27	1.6	0.22686	1.531000	0.35624	.	.	-0.137000	0.12594	0.991000	0.37257	0.000000	0.08366	0.873000	0.41610	0.0:0.2267:0.0:0.7733	8.652	0.33206	807	0.43470	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007553	0.005051	0.013587	0.008772	0.000000	0.017241	0.000000	0.000000	0.07143	55.44	33	chr2	144007291	.	T	C	55.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.248;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.04;ReadPosRankSum=2.36;SOR=0.495	GT:AD:DP:GQ:PL	0/1:7,4:11:66:66,0,192	6	0	1	0
chr2	165749842	165749842	A	G	exonic	GALNT3	.	nonsynonymous SNV	GALNT3:NM_004482:exon10:c.T1679C:p.L560S	Tumoral calcinosis, hyperphosphatemic, familial, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.754	0.0806947660902	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs760159041	1.369e-06	1.368e-06	2.723e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.176	0.29843	T	0.972	0.57405	D	0.944	0.68059	D	0.001328	0.39379	N	0.162257	0.999985	0.54805	D	2.62	0.76659	M	-1.22	0.78752	T	-2.27	0.61435	N	0.938	0.94432	0.159	0.85213	D	0.595	0.85521	D	10	0.8976558	0.89122	D	0.080695	0.73516	D	0.754	0.91583	0.722	0.85673	0.951257296136	0.95074	0.8751063571419188	0.87477	0.565768227307	0.52901	0.696317076683	0.66612	T	0.256769	0.62771	T	0.380505	0.88741	D	0.308792	0.88598	D	0.882556869007549	0.53267	D	0.89921	0.65830	D	0.59613127	0.72483	0.6282408	0.78321	0.59613127	0.72484	0.6282408	0.78322	-8.659	0.65478	D	0.29733304511887804	0.39443	0.8	0.77283	P	.;.	.;.	4.788073	0.77679	26.7	0.99820925219271395	0.90414	0.99112	0.91402	D	AEBI	0.938558	0.93793	D	0.766766462176006	0.83991	8.16494	0.747275697462861	0.85955	8.736909	0.999999993498008	0.74766	0.67177	0.52595	0	0.670034	0.63936	0	0.702456	0.68683	0	0.620846	0.47308	0	.	.	5.29	5.29	0.74430	9.321000	0.95528	11.221000	0.89777	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.229	0.73066	679	0.60090	Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain;Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr2	165749842	.	A	G	33.22	.	AC=2;AF=0.143;AN=14;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr2	172593029	172593029	A	G	exonic	PDK1	.	nonsynonymous SNV	PDK1:NM_002610:exon10:c.A1151G:p.D384G,PDK1:NM_001278549:exon11:c.A1211G:p.D404G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.786	0.1004015304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.004	0.74150	D	0.999	0.77913	D	0.984	0.76113	D	0.000002	0.62929	D	0.131004	1	0.81001	D	3.645	0.94141	H	0.53	0.55090	T	-6.37	0.91058	D	0.912	0.92784	0.242	0.86605	D	0.480	0.80134	T	10	0.9031973	0.89683	D	0.100402	0.77265	D	0.786	0.92908	0.73	0.86373	0.882142282459	0.88098	0.9433952369792596	0.94321	1.08704428983	0.77318	0.812948703766	0.83945	D	0.590919	0.86747	D	0.35753	0.87061	D	0.27579	0.86892	D	0.998931109905243	0.95630	D	0.988526	0.96056	D	0.9048802	0.91823	0.9133979	0.95930	0.9048802	0.91824	0.9133979	0.95930	-9.438	0.70473	D	.	.	0.781	0.78240	P	.;.;.	.;.;.	5.386566	0.90253	31	0.99859893920479392	0.93820	0.98967	0.89301	D	AEFBI	0.904063	0.85390	D	1.01972204216743	0.96320	14.55371	0.949691751068047	0.97394	16.056	0.999998615305601	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	9.325000	0.96006	11.189000	0.88595	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	1.0:0.0:0.0:0.0	16.200	0.81878	248	0.90287	Histidine kinase/HSP90-like ATPase|Histidine kinase domain|Histidine kinase/HSP90-like ATPase|Histidine kinase/HSP90-like ATPase;.;Histidine kinase/HSP90-like ATPase|Histidine kinase domain|Histidine kinase/HSP90-like ATPase|Histidine kinase/HSP90-like ATPase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	35	chr2	172593029	.	A	G	33.22	.	AC=2;AF=0.143;AN=14;DP=203;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr2	195756135	195756135	G	A	exonic	DNAH7	.	stopgain	DNAH7:NM_018897:exon62:c.C11584T:p.Q3862X	.	.	.	.	.	.	.	.	0.9982	0.8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002360	0.36727	N	0.229124	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.565	0.58883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607496	0.97860	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.	.;High;.	11.715470	0.99953	55	0.99791975862346016	0.87750	0.95850	0.66421	D	AEFGBI	0.866209	0.78556	D	1.11296006672611	0.98366	18.08483	0.954991191299619	0.97552	16.32578	0.998535677496922	0.37148	0.553676	0.25195	0	0.588015	0.36545	0	0.536957	0.11973	0	0.677038	0.66255	0	.	.	5.23	4.32	0.50899	6.381000	0.73094	6.086000	0.53397	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.871000	0.41478	0.0:0.138:0.862:0.0	16.995	0.86239	932	0.16191	.;Dynein heavy chain domain;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr2	195756135	.	G	A	33.22	.	AC=2;AF=0.143;AN=14;DP=200;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr2	201749770	201749770	T	C	exonic	ALS2	.	nonsynonymous SNV	ALS2:NM_020919:exon8:c.A1757G:p.N586S	Amyotrophic lateral sclerosis 2, juvenile, Autosomal recessive;Primary lateral sclerosis, juvenile, Autosomal recessive;Spastic paralysis, infantile onset ascending, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.699	0.302785914846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.021	0.58089	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.475	0.71894	M	-2.33	0.87910	D	-2.77	0.58733	D	0.878	0.87590	0.883	0.95439	D	0.836	0.94510	D	10	0.90134656	0.89496	D	0.302786	0.90937	D	0.699	0.89145	0.648	0.78542	0.90762253251	0.90670	0.9243449387440976	0.92411	0.756935020271	0.64057	0.556005895138	0.46704	T	0.735032	0.92614	D	0.10108	0.64409	D	-0.092582	0.63967	T	0.972458839416504	0.69706	D	0.958704	0.84427	D	0.22294502	0.44904	0.22882636	0.47936	0.22294502	0.44904	0.22882636	0.47935	-9.28	0.69481	D	0.7293150021942796	0.81092	0.248	0.48240	B	.	.	4.620037	0.73354	26.0	0.99901159905350156	0.97275	0.97304	0.73911	D	AEFBI	0.630751	0.61198	D	0.752342396342633	0.83058	7.918678	0.73670136201167	0.85159	8.498539	0.999996644077807	0.74766	0.732398	0.92422	0	0.633656	0.55848	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.87	5.87	0.94266	5.156000	0.64751	.	.	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	16.576	0.84532	207	0.91931	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1429	33.22	36	chr2	201749770	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr2	202961316	202961316	C	A	exonic	CARF	.	nonsynonymous SNV	CARF:NM_001282912:exon6:c.C458A:p.T153K,CARF:NM_001352676:exon6:c.C164A:p.T55K,CARF:NM_001282910:exon7:c.C494A:p.T165K,CARF:NM_001322429:exon7:c.C686A:p.T229K,CARF:NM_001352677:exon7:c.C416A:p.T139K,CARF:NM_001104586:exon8:c.C722A:p.T241K,CARF:NM_001282911:exon8:c.C494A:p.T165K,CARF:NM_001322428:exon8:c.C722A:p.T241K,CARF:NM_001322427:exon9:c.C722A:p.T241K,CARF:NM_024744:exon9:c.C722A:p.T241K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.011756043029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.91255	D	0.0	0.92824	D	0.898	0.90584	P	0.507	0.92359	P	0.000001	0.84330	D	0.000000	0.99998	0.81001	D	1.645	0.42016	L	.	.	.	-3.66	0.82764	D	0.831	0.91505	-0.4735	0.69602	T	0.306	0.67685	T	9	0.6397844	0.68990	D	0.011756	0.29704	T	0.279	0.59619	0.348	0.34436	0.433600339574	0.42977	0.8586215888562365	0.85825	0.85370292488	0.68666	0.743530035019	0.73492	T	0.531711	0.83806	D	0.416712	0.90846	D	0.360802	0.90732	D	0.984222710132599	0.75606	D	0.892211	0.65471	D	0.6259339	0.74081	0.5369205	0.73239	0.6259339	0.74082	0.5369205	0.73240	-15.56	0.97026	D	.	.	0.969	0.90070	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.741017	0.76452	26.5	0.99153675350557746	0.53875	0.98548	0.83964	D	AEFBI	0.735238	0.68111	D	0.514417912778016	0.67943	5.149421	0.569386653376091	0.72757	5.860333	0.999731772947716	0.42341	0.638212	0.43195	0	0.633656	0.55848	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.31	5.31	0.75063	6.068000	0.70838	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.965	0.89017	485	0.77085	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	28	chr2	202961316	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=181;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr2	203057335	203057335	A	-	exonic	NBEAL1	.	frameshift deletion	NBEAL1:NM_001114132:exon6:c.397delA:p.E136Rfs*14,NBEAL1:NM_001378026:exon6:c.397delA:p.E136Rfs*14	.	444	1055	22	1	0	24	0.0112465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0133	.	0.0092	0.0049	0.0027	0.0210	0.0006	0.0173	0.0129	0.0018	0.0015912	246	154602	rs749661669	0.0002	0.0036	0.0001	0.0002	0.0006	0.0001	0.0001	0.0004	0.0004	0.0003	0.0006	4.127e-05	5.745e-05	0.0002	0.0002	0.0001	0.0002	0.0005	3.406e-05	5.348e-05	1.325e-05	5.61e-05	6.801e-05	1.296e-05	8.24e-06	8.3e-06	3.11e-06	5.011e-05	0	6.801e-05	0	0	0	0	1.504e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	34.4	34	chr2	203057334	.	CA	C	34.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.88;ReadPosRankSum=0.524;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,2:5:45:45,0,73	6	0	1	0
chr2	218164649	218164649	T	-	exonic	CXCR1	.	frameshift deletion	CXCR1:NM_000634:exon2:c.563delA:p.Y188Lfs*54	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	40.4	88	chr2	218164648	.	AT	A	40.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.967;DP=434;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.04;ReadPosRankSum=-0.37;SOR=0.368	GT:AD:DP:GQ:PL	0/1:8,2:10:51:51,0,293	6	0	1	0
chr2	218262786	218262786	C	T	exonic	GPBAR1	.	nonsynonymous SNV	GPBAR1:NM_001077191:exon2:c.C62T:p.S21F,GPBAR1:NM_001077194:exon2:c.C62T:p.S21F,GPBAR1:NM_001321950:exon2:c.C62T:p.S21F,GPBAR1:NM_170699:exon2:c.C62T:p.S21F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00810846527688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.85e-07	6.84e-07	1.363e-06	0	9e-07	0	0	.	.	0	0	0	0	0	0	9e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.37966	T	0.135	0.34124	T	0.009	0.15093	B	0.006	0.12133	B	0.008561	0.30776	N	0.207230	0.949051	0.37636	D	1.265	0.31966	L	1.43	0.32958	T	-0.67	0.19297	N	0.33	0.37093	-1.0774	0.07861	T	0.042	0.18243	T	10	0.14178291	0.26937	T	0.008108	0.21495	T	0.020	0.03691	0.276	0.22845	0.385417323374	0.38153	0.7673081177796917	0.76679	0.0460357094814	0.04998	0.48489806056	0.36732	T	0.063485	0.32189	T	-0.167101	0.25673	T	-0.477806	0.24680	T	0.374029771929662	0.27953	T	0.628837	0.24395	T	0.24659762	0.47630	0.12926577	0.31084	0.24659762	0.47630	0.12926577	0.31083	-4.946	0.36248	T	.	.	0.282	0.51532	B	.;.;.;.	.;.;.;.	2.971996	0.39618	21.0	0.94392909920747492	0.24776	0.86345	0.45607	D	AEFDBCI	0.265808	0.38285	N	-0.470869459106482	0.23038	1.234407	-0.299593045577214	0.28112	1.56488	0.999999999708477	0.74766	0.580535	0.33130	0	0.379588	0.06130	0	0.576033	0.28219	0	0.491896	0.07777	0	.	.	4.62	3.75	0.42236	3.679000	0.54368	3.996000	0.41031	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.0:0.9133:0.0:0.0867	11.748	0.51100	887	0.27948	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	160.25	33	chr2	218262786	.	C	T	160.25	.	AC=2;AF=0.143;AN=14;DP=209;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=26.71;SOR=1.329	GT:AD:DP:GQ:PL	1/1:0,6:6:18:181,18,0	6	1	0	0
chr2	219060433	219060433	A	G	exonic	IHH	.	nonsynonymous SNV	IHH:NM_002181:exon1:c.T35C:p.F12S	Acrocapitofemoral dysplasia, Autosomal recessive;Brachydactyly, type A1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.571	0.984802201408	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.332	0.18449	T	0.099	0.25639	B	0.015	0.17295	B	0.709952	0.10022	N	0.867558	0.999998	0.08975	N	0.695	0.17993	N	-6.66	0.99758	D	-0.25	0.11008	N	0.185	0.20129	1.185	0.99964	D	0.939	0.97978	D	10	0.28311172	0.45891	T	0.984802	0.99928	D	0.571	0.82573	0.501	0.59304	0.976948334777	0.97670	0.48552501779699636	0.48472	1.98321487319	0.93659	0.873672187328	0.93089	D	0.410784	0.76542	T	0.135373	0.67882	D	-0.043322	0.67477	D	0.141460977633216	0.16401	T	0.377862	0.09067	T	0.17007904	0.37562	0.16314375	0.37861	0.17007904	0.37562	0.16314375	0.37860	-2.494	0.05740	T	0.09231128193962408	0.05953	0.108	0.20313	B	.	.	2.561314	0.33175	19.26	0.96536067373039403	0.30168	0.24683	0.22469	N	AEFDBHCI	0.067869	0.13362	N	-0.470026584018405	0.23067	1.236108	-0.351462632444028	0.26463	1.461906	0.998820972343296	0.37755	0.59774	0.34471	0	0.59043	0.45803	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.78	3.78	0.42629	-0.040000	0.12056	7.060000	0.57403	0.644000	0.52426	0.015000	0.19116	1.000000	0.68203	0.835000	0.39381	0.7861:0.2139:0.0:0.0	7.712	0.27851	475	0.77788	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	49.44	27	chr2	219060433	.	A	G	49.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.967;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.48;ReadPosRankSum=0;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,2:3:33:0|1:219060433_A_G:60,0,33:219060433	6	0	1	0
chr2	232407892	232407892	C	T	exonic	ALPG	.	nonsynonymous SNV	ALPG:NM_031313:exon5:c.C523T:p.P175S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.832	0.135469373539	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	4.26	0.98092	H	-6.08	0.99517	D	-7.4	0.94758	D	0.817	0.81261	0.988	0.96983	D	0.988	0.99663	D	10	0.9902333	0.99518	D	0.135469	0.81793	D	0.832	0.94691	0.912	0.98269	0.968500111927	0.96816	0.926451466343881	0.92623	0.64558191495	0.58000	0.587133228779	0.51090	T	0.885489	0.97632	D	0.411561	0.90566	D	0.353403	0.90448	D	0.998854637145996	0.95376	D	0.925507	0.72634	D	0.836936	0.86390	0.6543339	0.79765	0.836936	0.86391	0.6543339	0.79766	-11.707	0.83395	D	.	.	0.738	0.74540	P	.	.	3.790737	0.54561	23.5	0.99768149990380728	0.85666	0.90623	0.51953	D	AEFDBHCI	0.723381	0.67301	D	0.424728551779136	0.62785	4.500304	0.13947990548909	0.46589	2.902309	0.999999203215006	0.74766	0.634777	0.41761	0	0.59043	0.45803	0	0.643519	0.47002	0	0.562822	0.20929	0	.	.	2.71	2.71	0.31092	5.649000	0.67611	5.670000	0.49252	0.412000	0.20661	1.000000	0.71638	1.000000	0.68203	0.045000	0.14751	0.0:1.0:0.0:0.0	13.810	0.62748	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	450.44	41	chr2	232407892	.	C	T	450.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.827;DP=297;ExcessHet=0;FS=2.78;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=0.203;SOR=0.812	GT:AD:DP:GQ:PL	0/1:19,21:40:99:461,0,441	6	0	1	0
chr2	232540079	232540079	C	T	exonic	CHRNG	.	nonsynonymous SNV	CHRNG:NM_005199:exon2:c.C143T:p.S48L	Escobar syndrome, Autosomal recessive;Multiple pterygium syndrome, lethal type, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	0.0761875677774	7.7e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs370022034	1.437e-05	1.436e-05	1.497e-05	1.375e-05	2.519e-05	9.23e-06	7.84e-06	9.31e-06	7.61e-06	0	2.236e-05	0	2.519e-05	0	0	1.529e-05	0	2.319e-05	1.314e-05	1.313e-05	2.569e-05	0	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.084	0.41364	T	0.102	0.48080	T	0.188	0.29318	B	0.108	0.31289	B	0.267040	0.15202	N	0.573778	1	0.08975	N	2.025	0.55430	M	-1.29	0.79475	T	-3.46	0.67705	D	0.246	0.31027	-0.4884	0.69065	T	0.420	0.76570	T	10	0.16248438	0.30450	T	0.076188	0.72472	D	0.280	0.59740	.	.	0.744525733801	0.74222	.	.	0.185067540199	0.20798	0.423196196556	0.28277	T	0.70695	0.91610	D	-0.0176699	0.49184	T	-0.263158	0.48508	T	0.549267709255219	0.34450	D	0.633437	0.36032	T	0.1877465	0.40243	0.23949605	0.49300	0.1877465	0.40242	0.23949605	0.49299	-8.905	0.67083	D	.	.	0.114	0.22825	B	.;.	.;.	2.841559	0.37494	20.5	0.99110980638473556	0.52725	0.16554	0.19443	N	AEFDBCI	0.142427	0.26486	N	-0.476147288902862	0.22864	1.223852	-0.564149893225855	0.20431	1.100714	0.999982082025761	0.51787	0.608966	0.35542	0	0.550933	0.16991	0	0.769059	0.98459	0	0.542086	0.14980	0	.	.	4.01	3.1	0.34780	0.462000	0.21667	1.316000	0.25570	0.589000	0.31548	0.000000	0.06391	0.007000	0.19602	0.614000	0.31742	0.141:0.3509:0.5081:0.0	9.207	0.36459	917	0.20147	Neurotransmitter-gated ion-channel ligand-binding domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	107.44	38	chr2	232540079	.	C	T	107.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21.49;ReadPosRankSum=-0.253;SOR=0.693	GT:AD:DP:GQ:PL	0/1:1,4:5:27:118,0,27	6	0	1	0
chr2	232770915	232770915	C	A	exonic	KCNJ13	.	nonsynonymous SNV	KCNJ13:NM_001172417:exon2:c.G208T:p.A70S,KCNJ13:NM_002242:exon2:c.G448T:p.A150S	Leber congenital amaurosis 16, Autosomal recessive;Snowflake vitreoretinal degeneration, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.113649403825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.384	0.11050	T	0.172	0.30241	T	0.999	0.77913	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.32	0.33002	L	1.57	0.96496	T	-1.61	0.43717	N	0.403	0.45803	-0.5805	0.65597	T	0.329	0.69716	T	10	0.83207226	0.82368	D	0.113649	0.79222	D	0.443	0.74588	0.762	0.89053	0.302481332339	0.29867	0.9569035063339736	0.95675	0.957253583666	0.72873	0.872203350067	0.92883	D	0.383815	0.81915	T	0.354427	0.86819	D	0.271333	0.86646	D	0.948097109794617	0.62821	D	0.79972	0.53201	T	0.4608921	0.64726	0.5823605	0.75789	0.4608921	0.64727	0.5823605	0.75789	-4.786	0.34428	T	0.2225926107531544	0.30037	0.334	0.55501	B	.;.;.	.;.;.	3.399787	0.47106	22.4	0.98736684071701697	0.45437	0.98528	0.83745	D	AEFBI	0.842162	0.75929	D	0.447833386514542	0.64080	4.654704	0.535680990199541	0.70407	5.500762	0.999999999998499	0.74766	0.428477	0.06694	0	0.37387	0.05907	3	0.547309	0.15389	0	0.714379	0.83352	0	.	.	5.6	5.6	0.84997	5.014000	0.63790	4.932000	0.46138	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.623	0.95661	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	.	.	.	.	.	.	.	.	0.1429	33.22	27	chr2	232770915	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=198;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr2	240757364	240757364	C	T	exonic	KIF1A	.	nonsynonymous SNV	KIF1A:NM_001379632:exon26:c.G2762A:p.R921Q,KIF1A:NM_001379633:exon26:c.G2786A:p.R929Q,KIF1A:NM_001379642:exon26:c.G2786A:p.R929Q,KIF1A:NM_001379645:exon26:c.G2786A:p.R929Q,KIF1A:NM_001244008:exon27:c.G2813A:p.R938Q,KIF1A:NM_001379631:exon27:c.G2888A:p.R963Q	Mental retardation, autosomal dominant 9, Autosomal dominant;Neuropathy, hereditary sensory, type IIC, Autosomal recessive;Spastic paraplegia 30, autosomal recessive, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	367142	not_specified|Inborn_genetic_diseases|KIF1A-related_disorder|not_provided	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.026	0.0267602580679	.	0.000599042	0.0028	0	0	0	0.0006	0.0070	0	0.0011	0.0006145	95	154602	rs192102667	0.0009	0.0009	0.0009	0.0009	0.0118	0.0009	0.0008	0.0095	0.0087	0.0008	0.0011	0.0160	0	0.0001	0.0118	0.0005	0.0021	0.0007	0.0009	0.0009	0.0009	0.0008	0.0008	0.0007	0.0007	0.0005	0.0004	0.0003	0	0.0008	0.0167	0	9.414e-05	0.0170	0.0005	0.0038	0.0004	0.277	0.15665	T	0.646	0.06836	T	0.002	0.09854	B	0.002	0.06944	B	.	.	.	.	1	0.81001	D	.	.	.	-0.52	0.71779	T	-0.21	0.10308	N	0.128	0.12198	-0.9954	0.31191	T	0.137	0.45356	T	8	0.0037359595	0.00069	T	0.02676	0.49639	D	0.026	0.05648	.	.	0.285775778912	0.28195	0.4801543005852717	0.47935	0.500603223362	0.48474	0.427563339472	0.28876	T	.	.	.	-0.449962	0.01130	T	-0.475464	0.24929	T	0.00877313456651127	0.00108	T	0.79872	0.45098	T	.	.	.	.	.	.	.	.	-4.308	0.28288	T	.	.	0.062	0.02065	B	.;.;.;.	.;.;.;.	2.956052	0.39350	20.9	0.95261931439250225	0.26531	0.43678	0.27151	N	AEFBHCI	0.093038	0.18830	N	-0.531128711227893	0.21079	1.116061	-0.397935687822421	0.25058	1.375822	0.918969962207698	0.26588	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.562822	0.20929	0	.	.	4.86	3.05	0.34272	0.754000	0.26056	1.079000	0.23874	-0.172000	0.11096	1.000000	0.71638	0.992000	0.31684	0.985000	0.61073	0.0:0.6757:0.0:0.3243	7.806	0.28366	988	0.01987	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	106.44	33	chr2	240757364	.	C	T	106.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.022;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=-1.292;SOR=0.799	GT:AD:DP:GQ:PL	0/1:3,5:8:66:117,0,66	6	0	1	0
chr3	3845835	3845835	C	A	exonic	LRRN1	.	nonsynonymous SNV	LRRN1:NM_020873:exon2:c.C1194A:p.F398L,LRRN1:NM_001324188:exon3:c.C1194A:p.F398L,LRRN1:NM_001324189:exon3:c.C1194A:p.F398L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.0108466300923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.005128	0.33071	N	0.369809	1	0.81001	D	0.175	0.09039	N	0.63	0.53088	T	0.62	0.02442	N	0.143	0.14338	-1.0469	0.15274	T	0.048	0.20315	T	10	0.087144434	0.14883	T	0.010847	0.27853	T	0.049	0.13647	0.295	0.25881	0.165150595986	0.16160	0.45043792302724356	0.44961	0.216955615391	0.24212	0.638128042221	0.58298	T	0.01945	0.15495	T	-0.210893	0.19253	T	-0.54071	0.18227	T	0.0890955254435539	0.11109	T	0.792121	0.43364	T	0.08043101	0.18428	0.06990063	0.14787	0.08043101	0.18427	0.06990063	0.14787	-2.049	0.03371	T	.	.	0.455	0.62430	A	.	.	1.535178	0.19691	14.39	0.86479938267518486	0.16564	0.86737	0.46082	D	AEFDBI	0.554916	0.56557	D	-0.628112951755608	0.18103	0.9371998	-0.408168031519712	0.24757	1.357529	0.176232048384493	0.17808	0.631515	0.41029	0	0.573888	0.26702	0	0.697927	0.64325	0	0.564101	0.26826	0	.	.	5.65	2.41	0.28644	0.133000	0.15736	0.616000	0.20081	0.599000	0.40250	0.960000	0.33603	0.998000	0.33993	0.991000	0.66497	0.0:0.6884:0.1306:0.1809	8.422	0.31869	940	0.13648	Cysteine-rich flanking region, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	38.44	60	chr3	3845835	.	C	A	38.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.981;DP=441;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.49;ReadPosRankSum=0;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:49:0|1:3845835_C_A:49,0,191:3845835	6	0	1	0
chr3	15635591	15635591	T	C	exonic	BTD	.	nonsynonymous SNV	BTD:NM_001281723:exon2:c.T152C:p.L51P,BTD:NM_001281725:exon2:c.T152C:p.L51P,BTD:NM_001281726:exon2:c.T152C:p.L51P,BTD:NM_001370658:exon2:c.T152C:p.L51P,BTD:NM_001370752:exon2:c.T152C:p.L51P,BTD:NM_001370753:exon2:c.T152C:p.L51P,BTD:NM_001323582:exon3:c.T152C:p.L51P,BTD:NM_001281724:exon4:c.T152C:p.L51P	Biotinidase deficiency, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	47043	not_specified|Biotinidase_deficiency	MedGen:CN169374|MONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260,Orphanet:79241	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.428	.	.	0.00179712	0.0016	0	8.637e-05	0	0	0	0	0.0116	0.0013389	207	154602	rs397514333	0.0007	0.0007	0.0003	0.0011	0.0120	0.0007	0.0007	0.0114	0.0112	2.987e-05	4.472e-05	0	0	0	0.0002	8.993e-07	0.0004	0.0120	0.0003	0.0003	0.0001	0.0004	0.0087	0.0002	0.0002	0.0066	0.0059	0	0	0	0	0	0	0	0	0	0.0087	0.42	0.09836	T	0.122	0.35710	T	0.0	0.02946	B	0.0	0.01387	B	0.000670	0.42516	N	0.242007	0.988903	0.40850	D	-0.785	0.01646	N	-3.35	0.94022	D	0.48	0.03041	N	0.166	0.18239	-0.6714	0.61765	T	0.394	0.74706	T	10	0.0107168555	0.00237	T	.	.	.	0.428	0.73517	0.844	0.94845	0.760892739256	0.75871	0.7374654736066695	0.73691	0.114119342895	0.12869	0.328952461481	0.14776	T	0.228189	0.59367	T	-0.189707	0.22300	T	-0.0348891	0.68043	D	0.0137185897483627	0.00257	T	0.224178	0.02920	T	0.03588842	0.04310	0.047470268	0.06844	0.045759946	0.07544	0.04274093	0.05158	-0.022	0.00357	T	.	.	0.037	0.00010	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	0.050697	0.04644	1.301	0.4548821469364564	0.03574	0.05095	0.10894	N	AEFDGBCIJ	0.091327	0.18500	N	-1.15207348532111	0.05746	0.2627579	-1.05633381738596	0.08575	0.4222788	0.999999930027283	0.74766	0.730579	0.87903	0	0.688494	0.66719	0	0.688494	0.62686	0	0.648885	0.59868	0	.	.	4.72	1.93	0.24985	2.014000	0.40571	0.237000	0.16261	-0.200000	0.08971	0.429000	0.26401	0.000000	0.08366	0.003000	0.05239	0.1506:0.6088:0.0:0.2406	4.714	0.12264	484	0.77165	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	94.44	35	chr3	15635591	.	T	C	94.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.108;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=1.07;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,4:7:72:105,0,72	6	0	1	0
chr3	37063779	37063779	C	T	exonic	LRRFIP2	.	nonsynonymous SNV	LRRFIP2:NM_001348311:exon10:c.G749A:p.R250Q,LRRFIP2:NM_017724:exon10:c.G749A:p.R250Q,LRRFIP2:NM_001134369:exon11:c.G821A:p.R274Q,LRRFIP2:NM_001348308:exon11:c.G851A:p.R284Q,LRRFIP2:NM_001348309:exon11:c.G851A:p.R284Q,LRRFIP2:NM_001348310:exon11:c.G821A:p.R274Q,LRRFIP2:NM_001348304:exon12:c.G944A:p.R315Q,LRRFIP2:NM_001348305:exon12:c.G923A:p.R308Q,LRRFIP2:NM_001348306:exon12:c.G923A:p.R308Q,LRRFIP2:NM_001348307:exon12:c.G923A:p.R308Q,LRRFIP2:NM_001348301:exon13:c.G1016A:p.R339Q,LRRFIP2:NM_001348302:exon13:c.G1016A:p.R339Q,LRRFIP2:NM_001348303:exon13:c.G953A:p.R318Q,LRRFIP2:NM_001348299:exon14:c.G1025A:p.R342Q,LRRFIP2:NM_001348300:exon14:c.G1025A:p.R342Q,LRRFIP2:NM_001282691:exon15:c.G1058A:p.R353Q,LRRFIP2:NM_001348298:exon18:c.G1199A:p.R400Q,LRRFIP2:NM_001348297:exon20:c.G1409A:p.R470Q,LRRFIP2:NM_006309:exon24:c.G1712A:p.R571Q	.	453	1067	1	1	0	3	0.00140384	.	.	.	4157389	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.228	0.0092805273927	.	.	1.649e-05	0	0	0	0	3e-05	0	0	1.29e-05	2	154602	rs762000660	1.371e-05	1.505e-05	1.365e-05	1.378e-05	0.0002	8.95e-06	7.28e-06	9.91e-06	3.89e-06	5.985e-05	2.236e-05	0	0	0	0.0002	9.916e-06	6.637e-05	1.161e-05	1.974e-05	1.971e-05	1.286e-05	2.694e-05	2.941e-05	5.25e-06	2.46e-06	4.88e-06	1.83e-06	2.417e-05	0	0	0	0	0	0	2.941e-05	0	0	0.035	0.57480	D	0.11	0.49663	T	0.997	0.77913	D	0.752	0.76113	P	0.000004	0.62929	N	0.062536	1	0.81001	D	2.185	0.61350	M	0.97	0.42502	T	-2.19	0.56466	N	0.359	0.43417	-0.8694	0.50574	T	0.182	0.52919	T	10	0.32853478	0.50121	T	0.009281	0.24366	T	0.228	0.52768	0.581	0.70733	0.494031935134	0.49039	0.46406284681489607	0.46325	.	.	0.631773233414	0.57397	T	0.08551	0.37517	T	-0.182689	0.23336	T	-0.3199	0.42585	T	0.450912088155746	0.30830	T	0.914708	0.69569	D	0.31364712	0.54099	0.21462417	0.46019	0.31364712	0.54099	0.21462417	0.46018	-13.176	0.90074	D	.	.	0.079	0.18456	B	.;.;.;.;.	.;.;.;.;.	5.384091	0.90224	31	0.99945056506454322	0.99886	0.97556	0.75524	D	AEFBI	0.623917	0.60768	D	0.401325081284656	0.61497	4.351455	0.417913807119735	0.62682	4.48764	0.999976565533334	0.50053	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.63	4.76	0.60189	4.800000	0.62218	4.818000	0.45095	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.9256:0.0:0.0744	13.591	0.61425	154	0.93967	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	99.44	33	chr3	37063779	.	C	T	99.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.842;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.21;ReadPosRankSum=2.19;SOR=1.022	GT:AD:DP:GQ:PL	0/1:3,4:7:63:110,0,63	6	0	1	0
chr3	39101071	39101071	G	A	exonic	GORASP1	.	nonsynonymous SNV	GORASP1:NM_001278789:exon2:c.C95T:p.A32V,GORASP1:NM_001278790:exon2:c.C95T:p.A32V,GORASP1:NM_031899:exon4:c.C380T:p.A127V	.	416	1092	14	0	0	14	0.00636943	.	.	.	2827273	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.526	0.0686469416642	0.0043	0.00199681	0.0055	0.0013	0.0032	0	0.0039	0.0084	0.0056	0.0015	0.0055627	860	154602	rs61743223	0.0058	0.0058	0.0058	0.0058	0.0078	0.0057	0.0056	0.0065	0.0065	0.0006	0.0037	0.0065	2.519e-05	0.0046	0.0078	0.0066	0.0046	0.0016	0.0043	0.0043	0.0045	0.0041	0.0069	0.0041	0.0040	0.0063	0.0061	0.0011	0.0110	0.0030	0.0089	0	0.0038	0.0068	0.0069	0.0071	0.0010	0.001	0.78490	D	0.006	0.74150	D	0.998	0.90584	D	0.978	0.84481	D	0.000002	0.62929	D	0.099404	1	0.81001	D	3.575	0.93507	H	1.09	0.67011	T	-3.9	0.73788	D	0.861	0.87049	0.174	0.85466	D	0.467	0.79427	T	10	0.016513765	0.00348	T	0.068647	0.70508	D	0.526	0.79947	.	.	0.78019012614	0.77816	0.8234265704893947	0.82299	0.451247227632	0.44877	0.652100801468	0.60284	T	0.296374	0.79933	T	0.026475	0.55251	T	0.274648	0.86829	D	0.060574304240651	0.07258	T	0.992867	0.97673	D	0.7968173	0.83703	0.6958277	0.82091	0.7968173	0.83704	0.6958277	0.82092	-9.443	0.70504	D	.	.	0.875	0.82966	P	.;.;.;.;.	.;.;.;.;.	4.764593	0.77065	26.6	0.99922181327377657	0.98852	0.96283	0.68385	D	AEFDGBCI	0.930240	0.91724	D	0.672706016409155	0.77845	6.753676	0.521857658585025	0.69463	5.364013	0.999999998827916	0.74766	0.758104	0.99027	0	0.697927	0.68747	0	0.691618	0.62860	0	0.714379	0.83352	0	.	.	4.99	4.99	0.65942	7.861000	0.85420	11.726000	0.94905	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.170000	0.20979	0.0:0.139:0.861:0.0	15.43	0.74810	359	0.84979	GRASP55/65 PDZ-like domain;.;GRASP55/65 PDZ-like domain;GRASP55/65 PDZ-like domain;GRASP55/65 PDZ-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.000000	0.002924	0.000000	0.000000	0.015244	0.000000	0.07143	146.44	34	chr3	39101071	.	G	A	146.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.465;DP=259;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.92;ReadPosRankSum=0.366;SOR=0.527	GT:AD:DP:GQ:PL	0/1:1,6:7:21:157,0,21	6	0	1	0
chr3	40482000	40482000	A	G	exonic	ZNF619	.	nonsynonymous SNV	ZNF619:NM_001145094:exon3:c.A64G:p.K22E,ZNF619:NM_173656:exon3:c.A64G:p.K22E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.000888137521725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.904e-07	1.368e-06	0	1.388e-06	9.03e-07	0	0	.	.	0	0	0	0	0	0	9.03e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.053	0.47336	T	0.98	0.59353	D	0.968	0.71741	D	.	.	.	.	1	0.08975	N	.	.	.	3.18	0.07478	T	0.06	0.06253	N	0.419	0.47765	-1.0008	0.29688	T	0.031	0.13286	T	8	0.24244899	0.41441	T	8.88E-4	0.00822	T	0.040	0.10527	0.376	0.38994	0.478680857624	0.47498	.	.	.	.	.	.	.	0.006936	0.08179	T	-0.160174	0.26733	T	-0.467856	0.25746	T	0.134536677611612	0.15794	T	0.370863	0.08760	T	0.14426468	0.33121	0.17960615	0.40706	0.14426468	0.33120	0.17960615	0.40705	-3.131	0.11656	T	.	.	0.126	0.47195	B	.;.;.	.;.;.	0.316296	0.06913	3.451	0.98497228723182728	0.42168	0.01695	0.05397	N	AEFDBCI	0.015957	0.00331	N	-0.350464413073697	0.27255	1.493893	-0.562927166290726	0.20462	1.102597	0.0853517352131863	0.15979	0.556989	0.30585	1	0.487994	0.07600	2	0.658983	0.55881	0	0.635551	0.53088	0	.	.	3.17	-0.975	0.09764	-0.318000	0.08091	-7.890000	0.01067	0.660000	0.55035	0.000000	0.06391	0.000000	0.08366	0.550000	0.30174	0.4828:0.0:0.2832:0.234	2.149	0.03563	626	0.65439	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	120.55	34	chr3	40482000	.	A	G	120.55	.	AC=2;AF=0.143;AN=14;DP=212;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=24.11;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,5:5:15:141,15,0	6	1	0	0
chr3	42184689	42184689	A	G	exonic	TRAK1	.	nonsynonymous SNV	TRAK1:NM_001265609:exon3:c.A146G:p.E49G,TRAK1:NM_001265610:exon3:c.A146G:p.E49G,TRAK1:NM_001349248:exon3:c.A146G:p.E49G,TRAK1:NM_001349249:exon3:c.A146G:p.E49G,TRAK1:NM_014965:exon3:c.A194G:p.E65G,TRAK1:NM_001042646:exon4:c.A368G:p.E123G,TRAK1:NM_001265608:exon4:c.A368G:p.E123G,TRAK1:NM_001349245:exon4:c.A56G:p.E19G,TRAK1:NM_001349246:exon4:c.A368G:p.E123G,TRAK1:NM_001349247:exon4:c.A368G:p.E123G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.469	0.0322231702603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.361e-06	0	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.78490	D	0.068	0.54934	T	0.995	0.67487	D	0.92	0.65550	D	0.000054	0.53742	D	0.122204	1	0.81001	D	2.93	0.84523	M	2.0	0.21473	T	-5.13	0.83763	D	0.911	0.92784	-1.0189	0.24074	T	0.115	0.40831	T	10	0.8667022	0.85917	D	0.032223	0.54110	D	0.469	0.76355	0.732	0.86547	0.537216399577	0.53373	0.8141334908445894	0.81369	0.567834782673	0.53028	0.813650369644	0.84052	D	0.500342	0.83723	D	0.270994	0.80528	D	0.151488	0.80277	D	0.996224403381348	0.88912	D	0.955304	0.82980	D	0.35877553	0.57742	0.45459437	0.68287	0.35877553	0.57742	0.45459437	0.68288	-11.916	0.84438	D	.	.	0.919	0.88506	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.442557	0.90953	32	0.99901220429301407	0.97275	0.95955	0.66881	D	AEFGBCIJ	0.938810	0.93853	D	0.622907183365884	0.74624	6.164678	0.638657062750119	0.77768	6.743496	1.0	0.98316	0.730579	0.87903	0	0.724815	0.89359	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.08	5.08	0.68373	9.096000	0.93530	11.148000	0.87267	0.741000	0.86335	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	1.0:0.0:0.0:0.0	14.380	0.66472	824	0.40336	HAP1, N-terminal;HAP1, N-terminal;HAP1, N-terminal;.;HAP1, N-terminal;.;HAP1, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	38	chr3	42184689	.	A	G	33.22	.	AC=2;AF=0.143;AN=14;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr3	44396456	44396456	G	A	exonic	TCAIM	.	nonsynonymous SNV	TCAIM:NM_001282913:exon7:c.G752A:p.R251H,TCAIM:NM_001282914:exon7:c.G320A:p.R107H,TCAIM:NM_001282915:exon7:c.G320A:p.R107H,TCAIM:NM_173826:exon7:c.G752A:p.R251H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.038492704974	.	.	8.533e-06	0	0	0	0	1.546e-05	0	0	6.5e-06	1	154602	rs774393777	5.474e-06	6.84e-06	6.809e-06	4.127e-06	2.519e-05	2.36e-06	1.7e-06	2.62e-06	1.68e-06	0	0	0	2.519e-05	0	0	6.296e-06	0	0	1.972e-05	1.971e-05	1.285e-05	2.691e-05	2.939e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.417e-05	0	0	0	0	0	0	2.939e-05	0	0	0.014	0.53172	D	0.012	0.63918	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.445	0.70938	M	0.7	0.51474	T	-2.58	0.55662	D	0.644	0.65673	-0.3938	0.72222	T	0.307	0.67749	T	10	0.7737918	0.77294	D	0.038493	0.58257	D	0.376	0.69443	0.649	0.78648	0.716108874736	0.71361	0.6948801469688866	0.69429	0.909994252364	0.71020	0.532386898994	0.43371	T	0.34283	0.71156	T	0.131122	0.67469	D	-0.0339427	0.68107	D	0.981799185276031	0.74115	D	0.963804	0.86607	D	0.31058422	0.53837	0.18989459	0.42361	0.31058422	0.53837	0.18989459	0.42360	-3.294	0.13660	T	.	.	0.337	0.60188	B	.;.	.;.	5.320511	0.89306	29.9	0.99946501289335965	0.99901	0.95115	0.63493	D	AEFBCI	0.876095	0.79991	D	0.802985660626344	0.86290	8.838837	0.759681464540811	0.86880	9.032686	0.999975141151572	0.50053	0.651	0.46895	0	0.670034	0.63936	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	5.6	4.73	0.59485	8.611000	0.90689	9.980000	0.82917	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0703:0.0:0.9297:0.0	14.593	0.67979	266	0.89551	Domain of unknown function DUF4461;Domain of unknown function DUF4461	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	64.44	23	chr3	44396456	.	G	A	64.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.242;DP=196;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.05;ReadPosRankSum=1.1;SOR=0.223	GT:AD:DP:GQ:PL	0/1:4,4:8:75:75,0,95	6	0	1	0
chr3	46437998	46437998	T	-	exonic	LTF	.	frameshift deletion	LTF:NM_001199149:exon16:c.1908delA:p.K636Nfs*14,LTF:NM_001321121:exon16:c.2034delA:p.K678Nfs*14,LTF:NM_002343:exon16:c.2040delA:p.K680Nfs*14,LTF:NM_001321122:exon19:c.2001delA:p.K667Nfs*14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	45.4	37	chr3	46437997	.	AT	A	45.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.967;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.13;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:24:56,0,24	6	0	1	0
chr3	48423797	48423797	C	T	exonic	PLXNB1	.	nonsynonymous SNV	PLXNB1:NM_001130082:exon3:c.G815A:p.R272H,PLXNB1:NM_002673:exon3:c.G815A:p.R272H	.	426	1067	28	1	0	30	0.0138632	.	.	.	3192376	PLXNB1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.021	0.0542521768028	0.0052	0.00239617	0.0047	0.0008	0.0032	0	0.0027	0.0050	0.0079	0.0100	0.0046377	717	154602	rs61729213	0.0059	0.0059	0.0056	0.0061	0.0177	0.0058	0.0057	0.0149	0.0139	0.0008	0.0032	0.0081	0.0001	0.0025	0.0177	0.0059	0.0059	0.0115	0.0040	0.0040	0.0040	0.0039	0.0106	0.0037	0.0036	0.0083	0.0074	0.0007	0.0132	0.0051	0.0072	0	0.0037	0.0204	0.0051	0.0076	0.0106	0.057	0.37966	T	0.111	0.37173	T	0.016	0.36856	B	0.001	0.22546	B	0.194289	0.16764	N	0.584617	1	0.08975	N	0.975	0.24501	L	2.79	0.11189	T	-0.94	0.25118	N	0.134	0.13484	-0.9746	0.36213	T	0.011	0.03903	T	10	0.008404374	0.00191	T	0.054252	0.65786	D	0.021	0.04004	.	.	0.20808081866	0.20439	0.39216153544610566	0.39131	0.271221807874	0.29642	0.384781897068	0.22932	T	0.086828	0.37810	T	-0.61637	0.00116	T	-0.648754	0.09042	T	0.00186751405759976	0.00019	T	0.747125	0.36981	T	0.14732799	0.33685	0.06697054	0.13791	0.14732799	0.33685	0.06697054	0.13791	-3.316	0.14285	T	.	.	0.086	0.20586	B	.;.;.	.;.;.	2.502600	0.32310	19.00	0.97602923478947878	0.34859	0.28506	0.23573	N	AEFDBCI	0.184760	0.31209	N	-0.695584778456766	0.16147	0.8201088	-0.697985827993386	0.17010	0.9025726	0.999563213366153	0.40425	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.635551	0.53088	0	.	.	4.73	1.82	0.24209	1.091000	0.30526	-0.331000	0.09890	0.545000	0.25583	0.626000	0.27965	0.063000	0.22074	0.019000	0.11356	0.0:0.4917:0.1949:0.3134	5.463	0.15923	15	0.98792	Sema domain|Sema domain|Sema domain;Sema domain|Sema domain|Sema domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.014602	0.005051	0.020380	0.005848	0.000000	0.017241	0.009146	0.030303	0.07143	106.44	37	chr3	48423797	.	C	T	106.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=219;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21.29;ReadPosRankSum=-1.282;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,4:5:21:117,0,21	6	0	1	0
chr3	49013435	49013435	C	A	exonic	WDR6	.	nonsynonymous SNV	WDR6:NM_001320546:exon2:c.C1823A:p.A608D,WDR6:NM_001320547:exon2:c.C1748A:p.A583D,WDR6:NM_018031:exon2:c.C1901A:p.A634D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.0246608509446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.72154	D	0.004	0.74150	D	0.999	0.77913	D	0.927	0.66185	D	0.000005	0.62929	D	0.105511	0.999849	0.50806	D	1.59	0.40313	L	3.57	0.58176	T	-1.95	0.45222	N	0.407	0.45047	-0.8431	0.52440	T	0.227	0.59196	T	10	0.27074414	0.44608	T	0.024661	0.47647	T	0.190	0.46781	0.654	0.79172	0.726976991548	0.72455	0.8850303567306606	0.88472	0.920332008699	0.71416	0.569419503212	0.48595	T	0.02577	0.30653	T	0.112362	0.65596	D	-0.0763758	0.65167	T	0.865448236465454	0.51556	D	0.768423	0.39759	T	0.44696277	0.63849	0.48129046	0.69962	0.44696277	0.63850	0.48129046	0.69963	-7.346	0.56522	T	.	.	0.522	0.75771	A	.;.;.;.;.	.;.;.;.;.	4.467291	0.69576	25.4	0.99686815053882816	0.79641	0.71778	0.35161	D	AEFDBCI	0.606300	0.59670	D	0.287099931356116	0.55493	3.713431	0.361715854212752	0.59218	4.09767	1.0	0.98316	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.35	5.35	0.76297	4.324000	0.59016	5.937000	0.51416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.053	0.93035	0	0.99858	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1429	33.22	43	chr3	49013435	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=229;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr3	50288660	50288660	T	C	exonic	IFRD2	.	nonsynonymous SNV	IFRD2:NM_006764:exon10:c.A1075G:p.M359V	.	434	1086	2	0	0	2	0.000919963	.	.	.	3679898	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.039	0.00875864921184	7.8e-05	0.000199681	0.0002	0	0	0	0	0.0003	0	0	0.0001423	22	154602	rs199606756	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0002	0.0003	0.0002	8.961e-05	0	7.652e-05	0	0	0.0009	0.0002	0.0002	0	7.248e-05	7.228e-05	3.868e-05	0.0001	0.0001	3.982e-05	3.135e-05	4.778e-05	3.347e-05	4.834e-05	0	0.0001	0	0	0	0	0.0001	0	0	0.327	0.13262	T	0.317	0.19539	T	0.0	0.02946	B	0.0	0.01387	B	0.002078	0.37317	N	0.299519	0.737045	0.29772	N	-1.24	0.00794	N	1.28	0.35960	T	0.12	0.05604	N	0.174	0.18649	-1.0605	0.11632	T	0.026	0.11264	T	10	0.025337994	0.00731	T	0.008759	0.23123	T	0.039	0.10176	.	.	0.180583059064	0.17676	0.13279452600278402	0.13203	.	.	0.260798603296	0.04986	T	0.012958	0.11294	T	-0.467245	0.00885	T	-0.614107	0.11654	T	0.0388198215631546	0.03479	T	0.748825	0.36981	T	0.020228544	0.00574	0.036310967	0.03054	0.020228544	0.00574	0.036310967	0.03053	-2.338	0.04767	T	.	.	0.048	0.00109	B	.;.	.;.	1.816316	0.23080	15.88	0.76313311754486257	0.11418	0.63636	0.32151	D	AEFBCI	0.150557	0.27487	N	-0.745268475772219	0.14762	0.7381339	-0.496620745627793	0.22246	1.207414	0.995300968349998	0.34055	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.93	2.81	0.31971	2.134000	0.41725	2.192000	0.31216	-0.172000	0.11096	0.982000	0.35529	0.984000	0.30665	0.996000	0.76049	0.0:0.4994:0.1706:0.33	4.052	0.09278	3	0.99430	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	154.44	40	chr3	50288660	.	T	C	154.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.393;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=0;SOR=0.79	GT:AD:DP:GQ:PL	0/1:7,7:14:99:165,0,175	6	0	1	0
chr3	50342546	50342546	T	C	exonic	ZMYND10	.	nonsynonymous SNV	ZMYND10:NM_001308379:exon7:c.A709G:p.S237G,ZMYND10:NM_015896:exon8:c.A724G:p.S242G	Ciliary dyskinesia, primary, 22, Autosomal recessive	426	1095	1	0	0	1	0.000456413	.	.	.	559588	Inborn_genetic_diseases|Primary_ciliary_dyskinesia	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.097	0.00287728924572	.	.	5.052e-05	0	0	0	0	6.109e-05	0	0.0001	3.88e-05	6	154602	rs761674579	3.764e-05	3.762e-05	3.676e-05	3.852e-05	0.0012	2.961e-05	2.657e-05	0.0006	0.0004	2.988e-05	2.237e-05	0	0	0	0.0012	3.149e-05	6.625e-05	8.116e-05	3.943e-05	3.94e-05	3.854e-05	4.036e-05	7.35e-05	1.715e-05	1.129e-05	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.35e-05	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.000000	0.84330	N	0.087906	0.799	0.29133	N	-1.695	0.00361	N	.	.	.	1.31	0.02195	N	0.204	0.22614	-1.0026	0.29168	T	0.027	0.11529	T	9	0.046953708	0.03951	T	0.002877	0.06074	T	0.097	0.27909	0.37	0.38013	0.0138822411134	0.00435	0.13539069650394472	0.13463	0.145835923067	0.16471	0.314511865377	0.12589	T	0.088362	0.38141	T	-0.295213	0.09118	T	-0.480301	0.24414	T	0.0111235967916884	0.00162	T	0.60094	0.22456	T	0.10061424	0.23759	0.09970108	0.23814	0.10061424	0.23759	0.09970108	0.23814	-0.022	0.00999	T	0.04093206202061082	0.00379	0.046	0.00136	B	.;.;.	.;.;.	0.894858	0.12684	9.208	0.56998218893019115	0.05673	0.07567	0.13579	N	AEFBI	0.125638	0.24222	N	-0.905824988714973	0.10705	0.5128622	-0.663683247047754	0.17871	0.9522258	0.999999761360093	0.74766	0.582742	0.33608	0	0.547309	0.14657	0	0.61531	0.40942	0	0.645665	0.59343	0	.	.	5.77	3.99	0.45527	3.878000	0.55843	3.314000	0.37488	-0.201000	0.08892	0.998000	0.41325	0.998000	0.33993	0.006000	0.07323	0.0:0.8449:0.0:0.1551	10.215	0.42339	2	0.99499	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.005051	0.000000	0.000000	0.000000	0.000000	0.003086	0.000000	0.07143	102.44	38	chr3	50342546	.	T	C	102.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.981;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.63;ReadPosRankSum=0.06;SOR=0.18	GT:AD:DP:GQ:PL	0/1:2,5:7:61:113,0,61	6	0	1	0
chr3	52840512	52840513	GC	-	exonic	STIMATE;STIMATE-MUSTN1	.	frameshift deletion	STIMATE-MUSTN1:NM_001198974:exon8:c.866_867del:p.R289Lfs*49,STIMATE:NM_198563:exon8:c.866_867del:p.R289Lfs*59	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	67.4	34	chr3	52840511	.	AGC	A	67.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.85;ReadPosRankSum=-1.383;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:78:78,0,78	6	0	1	0
chr3	65439929	65439931	TGC	-	exonic	MAGI1	.	nonframeshift deletion	MAGI1:NM_001033057:exon9:c.1218_1220del:p.Q421del,MAGI1:NM_001365903:exon9:c.1221_1223del:p.Q422del,MAGI1:NM_001365904:exon9:c.1221_1223del:p.Q422del,MAGI1:NM_001365905:exon9:c.1221_1223del:p.Q422del,MAGI1:NM_004742:exon9:c.1218_1220del:p.Q421del,MAGI1:NM_015520:exon9:c.1218_1220del:p.Q421del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0.0002	0.0002	0.0001	0.0011	0.0007	0.0002652	41	154602	rs752246689	5.029e-05	0.0011	3.564e-05	6.507e-05	0.0007	4.087e-05	3.76e-05	0.0005	0.0005	0	0	0	5.091e-05	0.0001	0	5.428e-06	3.337e-05	0.0007	4.63e-05	9.892e-05	3.882e-05	5.413e-05	0.0010	2.122e-05	1.535e-05	0.0004	0.0003	0	0	0	0	0.0002	0	0	1.474e-05	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	67.4	34	chr3	65439928	.	TTGC	T	67.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.383;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.85;ReadPosRankSum=-1.383;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:78:78,0,78	6	0	1	0
chr3	66405253	66405253	C	A	exonic	LRIG1	.	nonsynonymous SNV	LRIG1:NM_001377347:exon2:c.G103T:p.G35C,LRIG1:NM_001377348:exon2:c.G76T:p.G26C,LRIG1:NM_001377344:exon8:c.G1030T:p.G344C,LRIG1:NM_001377345:exon9:c.G325T:p.G109C,LRIG1:NM_001377346:exon9:c.G325T:p.G109C,LRIG1:NM_015541:exon9:c.G1105T:p.G369C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.0226014305118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.43708	D	0.096	0.41573	T	0.997	0.73220	D	0.912	0.70309	D	0.000008	0.62929	D	0.109014	0.999977	0.53665	D	1.935	0.51832	L	1.68	0.27184	T	-3.51	0.68880	D	0.749	0.74826	-1.0251	0.22050	T	0.118	0.41582	T	10	0.6037334	0.67057	D	0.022601	0.45504	T	0.183	0.45592	0.386	0.40624	0.174091166621	0.17034	0.7072450073321119	0.70666	0.45743375715	0.45377	0.801231324673	0.82151	T	0.419884	0.77177	T	0.00385989	0.52187	T	-0.232232	0.51556	T	0.972034454345703	0.69544	D	.	.	.	0.45716926	0.64494	0.18768762	0.42015	0.45716926	0.64495	0.18768762	0.42014	-3.37	0.44653	T	.	.	0.533	0.73763	A	.;.	.;.	4.757788	0.76885	26.6	0.99762693545774372	0.85172	0.86931	0.46325	D	AEFDBI	0.292701	0.40351	N	0.46231185679041	0.64904	4.755893	0.460546003174755	0.65396	4.818599	0.999999901365238	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.46	5.46	0.80021	3.147000	0.50335	5.958000	0.51771	0.599000	0.40250	0.994000	0.38300	1.000000	0.68203	0.639000	0.32395	0.0:1.0:0.0:0.0	19.322	0.94230	777	0.48198	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr3	66405253	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=213;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr3	67520561	67520561	C	-	exonic	SUCLG2	.	frameshift deletion	SUCLG2:NM_001177599:exon5:c.491delG:p.G164Afs*36,SUCLG2:NM_003848:exon5:c.491delG:p.G164Afs*36	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	49.4	34	chr3	67520560	.	GC	G	49.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=213;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=0.524;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,2:5:60:60,0,97	6	0	1	0
chr3	75730451	75730451	T	G	exonic	ZNF717	.	stoploss	ZNF717:NM_001324027:exon7:c.A2396C:p.X799S	.	432	314	768	8	0	784	0.555241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs75952318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	10882.8	91	chr3	75730451	.	T	G	10882.8	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.742;DP=592;ExcessHet=3.6764;FS=3.315;MLEAC=7;MLEAF=0.5;MQ=54.76;MQRankSum=-5.737;QD=20.57;ReadPosRankSum=0.391;SOR=0.483	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,4:4:12:1|1:75730450_C_T:180,12,0:75730450	1	1	5	0
chr3	75737060	75737060	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2563C:p.S855P,ZNF717:NM_001290208:exon5:c.T2563C:p.S855P,ZNF717:NM_001290209:exon5:c.T2413C:p.S805P	.	379	596	534	13	0	560	0.319635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.000628152010991	.	.	.	.	.	.	.	.	.	.	0.0548256	1427	26028	rs77715040	8.282e-06	8.895e-06	4.114e-06	1.25e-05	1.183e-05	4.42e-06	3.49e-06	5.34e-06	3.9e-06	0	0	0	0	0	0	9.948e-06	0	1.183e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.013	0.53900	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.15	0.07820	T	-3.1	0.63554	D	0.116	0.10483	-1.0427	0.16503	T	0.033	0.14029	T	9	0.09637886	0.17284	T	6.28E-4	0.00319	T	0.160	0.41473	.	.	0.0138822411134	0.00435	0.009052444588593512	0.00868	.	.	0.566062688828	0.48122	T	.	.	.	-0.167764	0.25573	T	-0.478758	0.24578	T	0.297621607780457	0.24905	T	0.79872	0.44372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550	0.66781	A	.	.	2.370076	0.30412	18.43	0.98191942080542327	0.39045	0.00784	0.03216	N	AEFDBHCI	0.085768	0.17389	N	-0.771083796564405	0.14068	0.6978022	-0.955324100233036	0.10800	0.5462925	0.999957637849619	0.48110	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	-2.936000	0.00751	.	.	0.610000	0.48991	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	9255.85	148	chr3	75737060	.	A	G	9255.85	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.535;DP=881;ExcessHet=3.6764;FS=1.107;MLEAC=7;MLEAF=0.5;MQ=53.38;MQRankSum=-5.265;QD=12.32;ReadPosRankSum=1.24;SOR=0.597	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,3:3:9:.:.:109,9,0:.	1	1	5	0
chr3	75737092	75737092	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290208:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290209:exon5:c.G2381A:p.C794Y	.	382	490	638	12	0	662	0.403167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.00342039862449	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs139633377	6.975e-07	1.369e-06	1.383e-06	0	9.107e-07	0	0	.	.	0	0	0	0	0	0	9.107e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.94	0.84919	D	-7.52	0.95102	D	0.208	0.23125	-0.0500	0.81206	T	0.770	0.92171	D	9	0.30394778	0.47923	T	0.00342	0.07694	T	0.402	0.71558	.	.	0.578941962908	0.57563	0.02342305612139971	0.02294	.	.	0.721298933029	0.70236	T	.	.	.	0.128852	0.67249	D	-0.0526902	0.66838	D	0.914417432390081	0.57105	D	0.80432	0.45191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.82003	P	.	.	2.732693	0.35776	19.99	0.91222742361264963	0.20479	0.19094	0.20525	N	AEFDBHCI	0.116885	0.22922	N	0.127215796981728	0.47735	2.995096	-0.201159305983142	0.31494	1.782947	0.999998666164745	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	0.518	0.16228	4.030000	0.56971	.	.	0.487000	0.22268	0.993000	0.37899	0.000000	0.08366	0.025000	0.12405	0.0:0.7965:0.0:0.2035	5.69	0.17097	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	13633.8	135	chr3	75737092	.	C	T	13633.8	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-2.219;DP=904;ExcessHet=3.6764;FS=1.095;MLEAC=7;MLEAF=0.5;MQ=54.9;MQRankSum=-7.465;QD=17.59;ReadPosRankSum=0.982;SOR=0.802	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,4:4:12:1|1:75737092_C_T:180,12,0:75737092	1	1	5	0
chr3	75737094	75737094	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2529T:p.R843S,ZNF717:NM_001290208:exon5:c.A2529T:p.R843S,ZNF717:NM_001290209:exon5:c.A2379T:p.R793S	.	386	488	636	12	0	660	0.403423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.00139168871644	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149660902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.08067	T	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	1	0.29002	N	.	.	.	2.5	0.14408	T	0.12	0.05604	N	0.171	0.18239	-0.9656	0.38092	T	0.015	0.05849	T	9	0.041348934	0.02782	T	0.001392	0.02037	T	0.187	0.46274	.	.	0.0138822411134	0.00435	0.003970010212323737	0.00371	.	.	0.350422680378	0.17984	T	.	.	.	-0.230087	0.16639	T	-0.568281	0.15607	T	0.0363333960522166	0.03039	T	0.50295	0.15803	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.57473	A	.	.	0.927565	0.13027	9.531	0.78772853777929608	0.12446	0.00288	0.01547	N	AEFDBHCI	0.032938	0.03815	N	-1.56864543804847	0.01428	0.06230873	-1.65490256639135	0.01351	0.06097677	0.999968767302643	0.48965	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	-1.65	0.07849	-1.617000	0.02154	.	.	-1.209000	0.01353	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2432:0.1819:0.2457:0.3291	0.098	0.00042	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	13457.8	134	chr3	75737094	.	T	A	13457.8	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.999;DP=893;ExcessHet=3.6764;FS=1.104;MLEAC=7;MLEAF=0.5;MQ=55.1;MQRankSum=-7.727;QD=17.48;ReadPosRankSum=0.701;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,4:4:12:1|1:75737092_C_T:180,12,0:75737092	1	1	5	0
chr3	75737105	75737105	T	A	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.A2518T:p.K840X,ZNF717:NM_001290208:exon5:c.A2518T:p.K840X,ZNF717:NM_001290209:exon5:c.A2368T:p.K790X	.	386	483	643	10	0	663	0.406998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0502536	1308	26028	rs113251431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.648710	0.92795	33	0.9890268774789388	0.48217	0.46426	0.27757	N	AEFDBHCI	0.042646	0.06644	N	0.188175099212538	0.50632	3.251287	-0.154561253355241	0.33234	1.898897	0.999999961661622	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	3.121000	0.50131	.	.	0.539000	0.25131	1.000000	0.71638	0.000000	0.08366	0.011000	0.09372	0.0:0.0:0.0:1.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	12688.8	128	chr3	75737105	.	T	A	12688.8	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-2.611;DP=850;ExcessHet=3.6764;FS=1.769;MLEAC=7;MLEAF=0.5;MQ=55.69;MQRankSum=-8.189;QD=16.96;ReadPosRankSum=0.071;SOR=0.849	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,4:4:12:1|1:75737092_C_T:180,12,0:75737092	1	1	5	0
chr3	75737127	75737127	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290208:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290209:exon5:c.T2346G:p.H782Q	.	384	545	585	8	0	601	0.355411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	0.0028455442474	.	.	.	.	.	.	.	.	.	.	0.064008	1666	26028	rs79811623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-5.94	0.89093	D	0.203	0.22486	0.069	0.83596	D	0.747	0.91362	D	9	0.25438643	0.42818	T	0.002846	0.05956	T	0.462	0.75889	.	.	0.358340041657	0.35441	0.0053718602075851244	0.00508	.	.	0.740122795105	0.72990	T	.	.	.	0.0996688	0.64257	D	-0.0946091	0.63811	T	0.721620917320251	0.41781	D	0.784422	0.42203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.946	0.86443	P	.	.	1.863242	0.23667	16.11	0.75650377613460507	0.11157	0.04138	0.09621	N	AEFDBHCI	0.080253	0.16223	N	-0.306900910275906	0.28885	1.597038	-0.631394962146373	0.18688	0.9994579	0.99995045990878	0.48110	0.632932	0.41330	0	0.666794	0.63253	0	0.002978	0.00130	3	0.756233	0.99697	0	.	.	1.59	0.372	0.15405	0.061000	0.14242	.	.	0.575000	0.29119	0.037000	0.20830	0.000000	0.08366	0.001000	0.02609	0.8077:0.0:0.1923:0.0	4.797	0.12647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	10476.5	115	chr3	75737127	.	A	C	10476.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.467;DP=801;ExcessHet=8.2628;FS=3.274;MLEAC=6;MLEAF=0.429;MQ=56.32;MQRankSum=-7.966;QD=14.92;ReadPosRankSum=0.637;SOR=0.962	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,4:6:72:0|1:75737092_C_T:162,0,72:75737092	1	0	6	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290208:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290209:exon5:c.2301_2309del:p.E768_R770del	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	5788.44	92	chr3	75737163	.	CCTACATTCT	C	5788.44	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.039;DP=689;ExcessHet=8.2628;FS=6.808;MLEAC=6;MLEAF=0.429;MQ=56.82;MQRankSum=-7.58;QD=9.91;ReadPosRankSum=0.068;SOR=1.205	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,3:5:75:0|1:75737092_C_T:120,0,75:75737092	1	0	6	0
chr3	75737590	75737590	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2033C:p.M678T,ZNF717:NM_001290208:exon5:c.T2033C:p.M678T,ZNF717:NM_001290209:exon5:c.T1883C:p.M628T,ZNF717:NM_001324027:exon5:c.T2033C:p.M678T	.	380	344	789	9	0	807	0.539799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000918803670254	.	.	.	.	.	.	.	.	.	.	0.0043031	112	26028	rs79103664	2.155e-06	3.424e-06	1.417e-06	2.914e-06	1.862e-06	5.7e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.862e-06	1.736e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.06049	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	0.82	0.01813	N	0.035	0.01004	-0.9135	0.46415	T	0.010	0.03492	T	9	0.047419846	0.04058	T	9.19E-4	0.00889	T	0.064	0.18567	.	.	0.0138822411134	0.00435	0.020703910282481648	0.02023	.	.	0.269451141357	0.06069	T	.	.	.	-0.256687	0.13292	T	-0.606489	0.12271	T	0.0260274478999564	0.01409	T	0.0606939	0.00442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30634	B	.	.	-0.571595	0.01651	0.116	0.41969334367691202	0.03062	0.00342	0.01773	N	AEFDBHCI	0.055927	0.10297	N	-1.5270329997039	0.01674	0.07322606	-1.61933844482173	0.01542	0.06986147	0.999968620109732	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-2.35	0.06302	-4.932000	0.00197	.	.	-1.902000	0.00523	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.5391:0.0:0.0:0.4609	5.111	0.14145	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	19118.5	151	chr3	75737590	.	A	G	19118.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.382;DP=1036;ExcessHet=8.2628;FS=1.103;MLEAC=6;MLEAF=0.429;MQ=52.32;MQRankSum=-10.59;QD=20.76;ReadPosRankSum=0.96;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,3:5:75:0|1:75737586_A_T:120,0,75:75737586	1	0	6	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R,ZNF717:NM_001290208:exon5:c.A2015G:p.K672R,ZNF717:NM_001290209:exon5:c.A1865G:p.K622R,ZNF717:NM_001324027:exon5:c.A2015G:p.K672R	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.003971670348	.	.	.	.	.	.	.	.	.	.	0.0466805	1215	26028	rs75759940	4.311e-06	4.109e-06	2.835e-06	5.828e-06	5.588e-06	1.55e-06	1.02e-06	2.01e-06	1.32e-06	0	0	0	0	0	0	5.588e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.16	0.07711	T	-0.9	0.24244	N	0.034	0.00942	-0.9500	0.40972	T	0.008	0.02926	T	9	0.049818516	0.04624	T	0.003972	0.09400	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.005655336952012324	0.00535	.	.	0.307848095894	0.11582	T	.	.	.	-0.255831	0.13391	T	-0.60526	0.12373	T	0.0589383841193725	0.07000	T	0.19898	0.02226	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13268	B	.	.	1.223152	0.16170	12.37	0.86139736186920213	0.16339	0.00629	0.02767	N	AEDBHCI	0.051131	0.09005	N	-1.64554763938136	0.01054	0.04572823	-1.67922087383407	0.01232	0.05551315	0.99998526063166	0.51787	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-3.14	0.04928	-0.248000	0.08872	.	.	-1.039000	0.01670	0.792000	0.29619	0.000000	0.08366	0.001000	0.02609	0.0:0.4304:0.3244:0.2451	4.750	0.12430	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	20118.5	159	chr3	75737608	.	T	C	20118.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=0;DP=1080;ExcessHet=8.2628;FS=0.522;MLEAC=6;MLEAF=0.429;MQ=52.21;MQRankSum=-11.48;QD=20.81;ReadPosRankSum=1.44;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,3:5:75:0|1:75737586_A_T:120,0,75:75737586	1	0	6	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S,ZNF717:NM_001290208:exon5:c.A2001T:p.R667S,ZNF717:NM_001290209:exon5:c.A1851T:p.R617S,ZNF717:NM_001324027:exon5:c.A2001T:p.R667S	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.00187641351265	.	.	.	.	.	.	.	.	.	.	0.0503688	1311	26028	rs76175438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.96	0.09542	T	-3.88	0.72710	D	0.189	0.20660	-1.0544	0.13198	T	0.045	0.19478	T	9	0.11718443	0.22126	T	0.001876	0.03272	T	0.148	0.39182	.	.	0.0138822411134	0.00435	0.02830632002622666	0.02780	.	.	0.34867143631	0.17727	T	.	.	.	-0.180088	0.23722	T	-0.496461	0.22715	T	0.343506299687112	0.26762	T	0.413359	0.10763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.68127	P	.	.	2.295364	0.29365	18.10	0.84579906210778943	0.15375	0.01716	0.05441	N	AEFDBHCI	0.093535	0.18923	N	-0.671626443351997	0.16833	0.8611102	-0.960126716317775	0.10688	0.5399544	0.999967844770143	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.71	0.405	0.15579	-1.876000	0.01725	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2583:0.0:0.0:0.7417	5.213	0.14647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	20414.5	161	chr3	75737622	.	T	A	20414.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.071;DP=1104;ExcessHet=8.2628;FS=0;MLEAC=6;MLEAF=0.429;MQ=52.69;MQRankSum=-11.03;QD=20.66;ReadPosRankSum=0.403;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,3:5:75:0|1:75737586_A_T:120,0,75:75737586	1	0	6	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C,ZNF717:NM_001290208:exon5:c.C1972T:p.R658C,ZNF717:NM_001290209:exon5:c.C1822T:p.R608C,ZNF717:NM_001324027:exon5:c.C1972T:p.R658C	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00153184105349	.	.	.	.	.	.	.	.	.	.	0.0285462	743	26028	rs77826574	6.031e-05	7.327e-05	6.658e-05	5.386e-05	0.0004	4.978e-05	4.582e-05	9.298e-05	6.561e-05	3.182e-05	0.0002	0	5.661e-05	0	0.0004	5.584e-05	0.0001	7.603e-05	5.383e-05	7.906e-05	6.569e-05	4.138e-05	0.0002	2.611e-05	1.869e-05	1.982e-05	1.131e-05	5.043e-05	0	6.658e-05	0	0	0	0	5.922e-05	0	0.0002	0.067	0.35918	T	0.169	0.30534	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.42	0.00999	T	-3.07	0.63207	D	0.105	0.08925	-0.8711	0.50446	T	0.003	0.01026	T	9	0.085398704	0.14414	T	0.001532	0.02394	T	0.133	0.36157	.	.	0.0482279557977	0.04254	0.024591376914232316	0.02410	.	.	0.41199272871	0.26732	T	.	.	.	-0.203544	0.20296	T	-0.530154	0.19270	T	0.177544683043135	0.19078	T	0.0464954	0.00331	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.47195	B	.	.	1.962068	0.24926	16.58	0.86866792728357911	0.16827	0.00357	0.01833	N	AEFDBHCI	0.053804	0.09728	N	-0.680381306712077	0.16582	0.8460908	-0.915126681668579	0.11737	0.5997874	0.999961843561367	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	0.774	0.17665	-0.426000	0.07076	.	.	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.185:0.0:0.5297:0.2853	2.500	0.04348	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	20048.5	160	chr3	75737651	.	G	A	20048.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=2.25;DP=1124;ExcessHet=8.2628;FS=1.1;MLEAC=6;MLEAF=0.429;MQ=53.82;MQRankSum=-10.07;QD=19.95;ReadPosRankSum=-0.18;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,3:4:33:0|1:75737586_A_T:123,0,33:75737586	1	0	6	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X,ZNF717:NM_001290208:exon5:c.T1947A:p.C649X,ZNF717:NM_001290209:exon5:c.T1797A:p.C599X,ZNF717:NM_001324027:exon5:c.T1947A:p.C649X	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0560934	1460	26028	rs79635065	0	6.854e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356406	0.86974	D	0.274176	0.86805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.913720	0.80871	27.4	0.97584058415749686	0.34753	0.02032	0.06091	N	AEFDBHCI	0.117194	0.22969	N	-0.0787027714682291	0.38328	2.243117	-0.47253526279424	0.22914	1.246949	0.999961225158915	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	1.71	0.23429	0.625000	0.24171	.	.	0.517000	0.23534	0.432000	0.26424	0.000000	0.08366	0.002000	0.04165	0.6786:0.0:0.0:0.3214	3.984	0.08997	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	18382.8	143	chr3	75737676	.	A	T	18382.8	.	AC=7;AF=0.5;AN=14;BaseQRankSum=1.66;DP=1052;ExcessHet=3.6764;FS=3.172;MLEAC=7;MLEAF=0.5;MQ=54.49;MQRankSum=-8.507;QD=19.7;ReadPosRankSum=-0.816;SOR=0.646	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,3:3:9:1|1:75737586_A_T:135,9,0:75737586	1	1	5	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K,ZNF717:NM_001290208:exon5:c.G1783A:p.E595K,ZNF717:NM_001290209:exon5:c.G1633A:p.E545K,ZNF717:NM_001324027:exon5:c.G1783A:p.E595K	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.000881827712362	.	.	.	.	.	.	.	.	.	.	0.0177117	461	26028	rs76496075	2.859e-06	4.104e-06	4.231e-06	1.449e-06	3.707e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.3	0.51157	N	0.164	0.17278	-1.0162	0.24948	T	0.024	0.10058	T	9	0.10873449	0.20253	T	8.82E-4	0.00800	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.00774685412423065	0.00739	.	.	0.43924510479	0.30473	T	.	.	.	-0.112376	0.34376	T	-0.399197	0.33477	T	0.387678323599846	0.28476	T	0.0947905	0.00704	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41357	B	.	.	1.271536	0.16702	12.71	0.99193801633277179	0.55053	0.00456	0.02204	N	AEFDBHCI	0.032518	0.03688	N	-0.56728006039535	0.19945	1.047804	-0.791629829841235	0.14701	0.7694518	0.999948745414493	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.473483	0.07196	2	0.0	0.00009	3	.	.	1.9	0.993	0.18943	-0.240000	0.08970	.	.	0.415000	0.20742	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.8279:0.0:0.1721	6.443	0.21064	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	6783.1	144	chr3	75737840	.	C	T	6783.1	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.503;DP=1016;ExcessHet=1.4958;FS=8.807;MLEAC=6;MLEAF=0.5;MQ=58.64;MQRankSum=-4.22;QD=11.6;ReadPosRankSum=-0.374;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,6:6:18:1|1:75737814_C_T:270,18,0:75737814	1	1	4	1
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R,ZNF717:NM_001290208:exon5:c.A1742G:p.H581R,ZNF717:NM_001290209:exon5:c.A1592G:p.H531R,ZNF717:NM_001324027:exon5:c.A1742G:p.H581R	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00618583320825	.	.	.	.	.	.	.	.	.	.	0.0154833	403	26028	rs76729736	5.018e-06	5.475e-06	2.829e-06	7.267e-06	8.44e-05	2.09e-06	1.34e-06	2.237e-05	1.22e-05	3.194e-05	0	0	8.44e-05	0	0	0	0	3.792e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0.0002	0	0	0	0	0	0.031	0.45039	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-7.28	0.94430	D	0.235	0.26475	0.078	0.83778	D	0.691	0.89323	D	9	0.15374556	0.29014	T	0.006186	0.16200	T	0.389	0.70521	.	.	0.26547132957	0.26150	0.029317279208247043	0.02880	.	.	0.705122470856	0.67885	T	.	.	.	0.0863372	0.62775	D	-0.113759	0.62311	T	0.349910879008873	0.27015	T	0.751425	0.37327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.77471	P	.	.	1.529838	0.19634	14.36	0.57541806715571575	0.05792	0.27383	0.23262	N	AEFDBHCIJ	0.135649	0.25605	N	-0.602165132605538	0.18879	0.9837148	-0.767266515667793	0.15298	0.8039007	0.999994431577383	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.76	0.513	0.16200	2.229000	0.42634	.	.	-0.220000	0.07995	1.000000	0.71638	0.067000	0.22148	0.002000	0.04165	0.0:0.1678:0.0:0.8322	5.415	0.15671	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	5482.48	133	chr3	75737881	.	T	C	5482.48	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.344;DP=923;ExcessHet=8.2628;FS=16.594;MLEAC=6;MLEAF=0.429;MQ=58.05;MQRankSum=-5.768;QD=6.98;ReadPosRankSum=-3.256;SOR=1.294	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,4:5:30:0|1:75737881_T_C:130,0,30:75737881	1	0	6	0
chr3	75737891	75737891	-	AAAT	exonic	ZNF717	.	frameshift insertion	ZNF717:NM_001128223:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290208:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290209:exon5:c.1581_1582insATTT:p.L528Ifs*16,ZNF717:NM_001324027:exon5:c.1731_1732insATTT:p.L578Ifs*16	.	353	691	477	1	0	479	0.257389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs369928577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	4137.44	128	chr3	75737891	.	G	GAAAT	4137.44	.	AC=6;AF=0.429;AN=14;BaseQRankSum=1.04;DP=874;ExcessHet=8.2628;FS=18.679;MLEAC=6;MLEAF=0.429;MQ=57.87;MQRankSum=-7.28;QD=5.55;ReadPosRankSum=-2.558;SOR=1.594	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,4:5:30:0|1:75737881_T_C:130,0,30:75737881	1	0	6	0
chr3	75737893	75737893	-	CTT	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290208:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290209:exon5:c.1579_1580insAAG:p.F527_P864del,ZNF717:NM_001324027:exon5:c.1729_1730insAAG:p.F577_N798del	.	356	680	485	1	0	487	0.263671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs373780316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	4099.44	122	chr3	75737893	.	A	ACTT	4099.44	.	AC=6;AF=0.429;AN=14;BaseQRankSum=0.181;DP=856;ExcessHet=8.2628;FS=19.985;MLEAC=6;MLEAF=0.429;MQ=57.78;MQRankSum=-7.524;QD=5.65;ReadPosRankSum=-2.157;SOR=1.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,3:4:33:0|1:75737881_T_C:123,0,33:75737881	1	0	6	0
chr3	75739165	75739165	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G458A:p.G153E,ZNF717:NM_001290208:exon5:c.G458A:p.G153E,ZNF717:NM_001290209:exon5:c.G308A:p.G103E,ZNF717:NM_001324027:exon5:c.G458A:p.G153E	.	426	716	379	1	0	381	0.210149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00294703274024	.	.	.	.	.	.	.	.	.	.	0.0484862	1262	26028	rs79165653	3.574e-06	3.42e-06	1.411e-06	5.798e-06	0.0001	1.05e-06	7.6e-07	5.451e-05	3.56e-05	0	0	0	0.0001	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	-2.66	0.56945	D	0.098	0.07949	-1.0050	0.28457	T	0.128	0.43625	T	9	0.097314626	0.17517	T	0.002947	0.06280	T	0.131	0.35738	.	.	0.0401082797425	0.02173	0.0035025799895356665	0.00327	.	.	0.341039121151	0.16594	T	.	.	.	-0.112133	0.34416	T	-0.398848	0.33517	T	0.425942718982697	0.29910	T	0.179282	0.01775	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43032	B	.	.	0.873037	0.12461	8.992	0.65778472644257657	0.07869	0.01043	0.03895	N	AEFDBCI	.	.	.	-0.639186145779198	0.17776	0.9175853	-0.902737289243841	0.12029	0.6164352	0.999962026466227	0.48965	0.69289	0.55638	0	0.636889	0.57051	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.07	0.059	0.13643	0.766000	0.26225	.	.	0.439000	0.21057	0.011000	0.18532	0.000000	0.08366	0.002000	0.04165	0.0:0.638:0.2172:0.1447	5.008	0.13643	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	1141.66	74	chr3	75739165	.	C	T	1141.66	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.54;DP=575;ExcessHet=2.5225;FS=20.571;MLEAC=4;MLEAF=0.286;MQ=56.54;MQRankSum=-5.041;QD=3.23;ReadPosRankSum=-0.431;SOR=1.188	GT:AD:DP:GQ:PL	0/1:2,2:4:37:58,0,37	3	0	4	0
chr3	93980479	93980479	T	C	exonic	ARL13B	.	nonsynonymous SNV	ARL13B:NM_001174150:exon1:c.T56C:p.V19A,ARL13B:NM_144996:exon1:c.T56C:p.V19A,ARL13B:NM_182896:exon1:c.T56C:p.V19A	Joubert syndrome 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0322811520281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.054	0.47097	T	0.93	0.51791	P	0.636	0.51948	P	0.058802	0.22372	N	0.452832	0.996373	0.81001	D	-0.315	0.03579	N	-0.15	0.65192	T	-2.52	0.54702	D	0.618	0.63374	-0.7598	0.57416	T	0.180	0.52629	T	10	0.23980266	0.43067	T	0.032281	0.54147	D	0.094	0.27141	0.323	0.30387	0.645970908164	0.64304	0.4076847963345252	0.40684	0.0892575461571	0.10086	0.655625462532	0.60785	T	0.048156	0.27935	T	-0.0377022	0.46290	T	-0.291933	0.45571	T	0.654345273971558	0.38650	D	0.30207	0.32236	T	0.0843239	0.19511	0.08834905	0.20595	0.0843239	0.19511	0.08834905	0.20594	-3.199	0.39033	T	0.11907949202924008	0.11055	0.230	0.46261	B	.;.;.	.;.;.	2.871083	0.37961	20.6	0.94581568466407084	0.25124	0.90245	0.51269	D	ALL	0.467127	0.51449	N	-0.0221803172375944	0.40853	2.433313	0.0726519046580059	0.43179	2.62505	0.999999999996588	0.74766	0.468429	0.09910	2	0.484254	0.07192	0	0.504199	0.09095	0	0.372554	0.06265	0	.	.	5.07	5.07	0.68106	3.511000	0.53157	5.912000	0.51036	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.212000	0.22240	0.0:0.0:0.0:1.0	11.395	0.49079	694	0.58444	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr3	93980479	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=203;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr3	120181226	120181226	T	G	exonic	GPR156	.	nonsynonymous SNV	GPR156:NM_001168271:exon8:c.A820C:p.T274P,GPR156:NM_153002:exon8:c.A832C:p.T278P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.691	0.107868613729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.072	0.43531	T	0.984	0.60733	D	0.899	0.63802	P	0.023440	0.26444	N	0.353536	0.98279	0.39935	D	1.24	0.30952	L	-1.88	0.84487	D	-2.87	0.60348	D	0.715	0.72120	-0.0581	0.81034	T	0.581	0.84907	D	9	0.8496872	0.84142	D	0.107869	0.78414	D	0.691	0.88773	0.748	0.87905	0.512424132817	0.50885	0.8665117443650924	0.86616	1.00069180223	0.74397	0.513661623001	0.40734	T	0.526503	0.83536	D	0.211336	0.74954	D	0.0657928	0.74629	D	0.899183564937913	0.55144	D	0.573543	0.20534	T	0.5423993	0.69530	0.6012671	0.76834	0.5423993	0.69532	0.6012671	0.76835	-8.387	0.63679	D	.	.	0.181	0.42578	B	.;.;.	.;.;.	3.330991	0.45857	22.2	0.99606678971749019	0.74575	0.80657	0.40238	D	AEFDGBHI	0.415739	0.48448	N	0.33245233370296	0.57821	3.951085	0.301900963199653	0.55650	3.727988	0.999946867948577	0.47345	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	6.08	2.42	0.28720	2.026000	0.40689	2.280000	0.31891	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1262:0.1479:0.1471:0.5789	2.034	0.03320	783	0.47268	GPCR family 3, C-terminal|GPCR family 3, C-terminal;GPCR family 3, C-terminal|GPCR family 3, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	188.44	33	chr3	120181226	.	T	G	188.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.023;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.13;ReadPosRankSum=1.18;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,8:11:57:199,0,57	6	0	1	0
chr3	120638530	120638530	C	T	exonic	HGD	.	nonsynonymous SNV	HGD:NM_000187:exon12:c.G931A:p.A311T	Alkaptonuria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1900113	Alkaptonuria	MONDO:MONDO:0008753,MedGen:C0002066,OMIM:203500,Orphanet:56	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.946	0.412540676485	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1317676622	1.368e-06	1.368e-06	0	2.75e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.004	0.74150	D	0.998	0.73220	D	0.964	0.71005	D	0.000001	0.62929	D	0.057010	1	0.81001	D	3.725	0.94815	H	-5.7	0.99284	D	-3.92	0.73151	D	0.953	0.96187	0.442	0.89711	D	0.611	0.86221	D	10	0.9610002	0.95510	D	0.412541	0.93628	D	0.946	0.98921	.	.	0.944821078682	0.94424	0.8151567888734889	0.81471	0.464945279326	0.45949	0.76384973526	0.76503	T	0.98409	0.99891	D	0.406353	0.90277	D	0.345921	0.90155	D	0.994951009750366	0.86582	D	0.968603	0.88631	D	0.911101	0.92398	0.8353289	0.90532	0.911101	0.92399	0.8353289	0.90532	-8.621	0.65228	D	0.8746325584799576	0.93428	0.883	0.81666	P	.	.	5.014227	0.83284	28.0	0.99920462999302007	0.98721	0.94906	0.62741	D	AEFDBCI	0.927685	0.91074	D	0.682782856956871	0.78506	6.885091	0.687399988905092	0.81421	7.522783	0.999999999964402	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.35	5.35	0.76297	7.359000	0.78737	7.718000	0.67175	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	16.391	0.83370	311	0.87433	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr3	120638530	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr3	121489780	121489780	A	T	exonic	POLQ	.	nonsynonymous SNV	POLQ:NM_199420:exon16:c.T3151A:p.S1051T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.0174048923795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.18823	T	0.517	0.10572	T	0.134	0.27266	B	0.03	0.21741	B	0.973722	0.07795	N	1.012730	1	0.08975	N	2.05	0.56469	M	0.76	0.49919	T	-0.96	0.25551	N	0.083	0.07398	-0.9849	0.33856	T	0.149	0.47505	T	10	0.09500292	0.16936	T	0.017405	0.39097	T	0.054	0.15330	0.186	0.09517	0.406257615169	0.40241	0.007497116414238556	0.00715	0.0966979762415	0.10917	0.284970551729	0.08194	T	0.01401	0.12011	T	-0.28998	0.09637	T	-0.654312	0.08654	T	0.0704844199566734	0.08718	T	0.507449	0.16094	T	0.059675753	0.12155	0.047409493	0.06822	0.059675753	0.12155	0.047409493	0.06822	-4.147	0.25980	T	0.4539303996026755	0.53726	0.091	0.13174	B	.;.	.;.	-0.456603	0.02009	0.179	0.81487839745732538	0.13710	0.02502	0.06989	N	AEFBI	0.038847	0.05558	N	-0.844715364542801	0.12179	0.5921473	-0.929295403044195	0.11405	0.5807992	0.00319847003463697	0.09983	0.615465	0.37627	0	0.546412	0.12157	0	0.608884	0.39905	0	0.655142	0.61905	0	.	.	4.87	2.41	0.28644	0.229000	0.17614	1.619000	0.27677	-0.133000	0.13014	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.4953:0.0:0.0:0.5047	8.404	0.31762	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	.	.	.	.	.	.	.	.	0.1429	33.22	35	chr3	121489780	.	A	T	33.22	.	AC=2;AF=0.143;AN=14;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr3	123448307	123448309	TCG	-	exonic	ADCY5	.	nonframeshift deletion	ADCY5:NM_001378259:exon1:c.237_239del:p.D80del,ADCY5:NM_183357:exon1:c.237_239del:p.D80del	Dyskinesia, familial, with facial myokymia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	906376	Dyskinesia_with_orofacial_involvement,_autosomal_dominant|not_provided	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703,Orphanet:324588|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0074	.	0.0009	0.0014	0.0014	0.0009	0.0006	0.0006	0	0.0014	3.84e-05	1	26028	rs754577305	0.0001	0.0010	9.899e-05	0.0001	0.0005	9.118e-05	8.578e-05	0.0003	0.0003	0.0001	0.0005	8.186e-05	0.0002	0.0001	0.0002	7.19e-05	0.0001	0.0003	1.319e-05	3.943e-05	1.289e-05	1.351e-05	2.947e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.947e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	74.18	37	chr3	123448306	.	ATCG	A	74.18	.	AC=2;AF=0.143;AN=14;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=26.7;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:90,6,0	6	1	0	0
chr3	123976934	123976934	C	T	exonic	ROPN1	.	nonsynonymous SNV	ROPN1:NM_001317774:exon3:c.G164A:p.R55Q,ROPN1:NM_017578:exon4:c.G164A:p.R55Q	.	436	1072	14	0	0	14	0.00648749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	.	0.0030	0.00419329	0.0034	0.0007	0.0012	0.0001	0.0011	0.0026	0.0011	0.0125	0.0032341	500	154602	rs149212157	0.0037	0.0037	0.0034	0.0040	0.0135	0.0036	0.0036	0.0128	0.0126	0.0006	0.0009	0.0003	0	0.0010	0.0036	0.0035	0.0035	0.0135	0.0021	0.0021	0.0021	0.0021	0.0133	0.0019	0.0018	0.0107	0.0097	0.0008	0	0.0012	0	0	0.0007	0	0.0028	0.0014	0.0133	0.051	0.39334	T	0.03	0.54159	D	0.001	0.07471	B	0.001	0.04355	B	0.122323	0.18960	N	0.509628	0.99912	0.21598	N	1.905	0.50856	L	1.6	0.37230	T	-2.86	0.68298	D	0.374	0.41557	-1.0625	0.11142	T	0.065	0.26913	T	10	0.0067691505	0.00154	T	.	.	.	0.123	0.34020	.	.	0.386395597597	0.38251	0.3772552444437112	0.37640	0.296466657935	0.32036	0.264913350344	0.05490	T	0.302873	0.67525	T	-0.566735	0.00231	T	-0.575821	0.14920	T	0.0120000737262563	0.00189	T	0.541746	0.18406	T	0.07111831	0.15721	0.1290431	0.31036	0.07111831	0.15721	0.1290431	0.31035	-8.265	0.62861	D	.	.	0.063	0.01622	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.204952	0.03064	0.477	0.94000249010768899	0.24094	0.42956	0.26992	N	AEFDBCI	0.077236	0.15556	N	-1.14640483811696	0.05839	0.2672506	-1.12990076809771	0.07134	0.3458745	0.998613099805109	0.37309	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.37	0.44	0.15785	0.245000	0.17917	-4.080000	0.02354	-5.768000	0.00007	0.936000	0.32490	0.000000	0.08366	0.002000	0.04165	0.0:0.5792:0.3041:0.1167	7.250	0.25321	752	0.51611	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	139.44	35	chr3	123976934	.	C	T	139.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.712;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=48.85;MQRankSum=-2.655;QD=15.49;ReadPosRankSum=-0.464;SOR=0.368	GT:AD:DP:GQ:PL	0/1:4,5:9:99:150,0,104	6	0	1	0
chr3	126500141	126500141	C	T	exonic	UROC1	.	nonsynonymous SNV	UROC1:NM_144639:exon12:c.G1159A:p.V387I,UROC1:NM_001165974:exon13:c.G1339A:p.V447I	.	1	1518	3	0	0	3	0.000987167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00888605571145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.288	0.15098	T	0.213	0.26467	T	0.005	0.12996	B	0.029	0.21540	B	0.000066	0.52346	N	0.126462	0.998832	0.45528	D	1.905	0.50856	L	0.68	0.51952	T	-0.44	0.14588	N	0.227	0.28616	-1.0314	0.20002	T	0.117	0.41341	T	10	0.15707567	0.29568	T	0.008886	0.23439	T	0.049	0.13647	0.707	0.84327	0.353125101423	0.34923	0.5994172153299265	0.59872	0.0717050410812	0.08036	0.267366439104	0.05800	T	0.046134	0.27331	T	-0.220422	0.17935	T	-0.554397	0.16906	T	0.509000718593597	0.32960	D	0.916908	0.70254	D	0.07786532	0.17698	0.06457874	0.12964	0.07786532	0.17698	0.06457874	0.12964	-4.754	0.34050	T	0.1127171399866244	0.09784	0.110	0.21353	B	.;.	.;.	2.044846	0.25992	16.96	0.97894051221470924	0.36690	0.68291	0.33747	D	AEFDBI	0.186863	0.31416	N	-0.290815263668269	0.29502	1.636614	-0.204427355220832	0.31376	1.775137	0.998994931790861	0.38161	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.68	2.85	0.32333	2.205000	0.42407	0.186000	0.15687	0.547000	0.25779	0.961000	0.33663	0.007000	0.19602	0.997000	0.79791	0.0:0.8215:0.0:0.1785	9.355	0.37322	844	0.36711	Urocanase, Rossmann-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	69.44	33	chr3	126500141	.	C	T	69.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.319;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.36;ReadPosRankSum=-0.319;SOR=0.916	GT:AD:DP:GQ:PL	0/1:1,3:4:28:80,0,28	6	0	1	0
chr3	130661954	130661954	G	A	exonic	COL6A6	.	nonsynonymous SNV	COL6A6:NM_001102608:exon34:c.G6148A:p.E2050K	.	428	1089	5	0	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00702338526753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	4.084e-06	0	1.159e-05	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	0	3.313e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.551	0.06564	T	0.061	0.45530	T	0.032	0.20242	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	2.495	0.72670	M	2.63	0.12884	T	-1.52	0.36980	N	0.304	0.34336	-0.9907	0.32424	T	0.024	0.10058	T	9	0.078474015	0.12510	T	0.007023	0.18594	T	0.006	0.00375	0.426	0.47185	0.130388298395	0.12655	0.3359731534233979	0.33510	0.0632575007222	0.07043	0.29738137126	0.10012	T	0.069822	0.33806	T	-0.343901	0.05123	T	-0.634913	0.10044	T	0.0490264598123526	0.05328	T	0.381062	0.09207	T	0.0314636	0.02992	0.056967944	0.10272	0.0314636	0.02992	0.056967944	0.10271	-4.633	0.32583	T	.	.	0.094	0.14523	B	.	.	0.742439	0.11117	7.764	0.94417297655061239	0.24821	0.08502	0.14423	N	AEFBI	0.090567	0.18351	N	-0.880173432001283	0.11315	0.5453859	-0.883812025929149	0.12477	0.6420301	0.00385233702879191	0.10307	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	6.04	1.24	0.20416	0.125000	0.15577	0.610000	0.20021	-0.106000	0.15538	0.005000	0.17040	0.025000	0.21018	0.000000	0.00833	0.204:0.2738:0.5221:0.0	7.227	0.25197	448	0.79501	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	49.44	34	chr3	130661954	.	G	A	49.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.052;DP=213;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.94;ReadPosRankSum=0.431;SOR=0.892	GT:AD:DP:GQ:PL	0/1:7,3:10:60:60,0,182	6	0	1	0
chr3	132601191	132601191	T	C	exonic	ACKR4	.	nonsynonymous SNV	ACKR4:NM_178445:exon1:c.T794C:p.I265T,ACKR4:NM_016557:exon2:c.T794C:p.I265T	.	437	1075	10	0	0	10	0.00462963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.0162901373016	0.0026	.	0.0024	0.0012	0.0012	0.0003	0.0024	0.0031	0.0011	0.0024	0.0003074	8	26028	rs145975679	0.0034	0.0034	0.0034	0.0033	0.0038	0.0033	0.0032	0.0037	0.0037	0.0004	0.0016	0.0015	7.56e-05	0.0030	0.0009	0.0038	0.0030	0.0026	0.0023	0.0023	0.0023	0.0022	0.0035	0.0021	0.0020	0.0029	0.0028	0.0012	0.0011	0.0011	0.0014	0.0002	0.0024	0.0034	0.0033	0.0019	0.0035	0.337	0.12837	T	0.097	0.39190	T	0.351	0.33667	B	0.197	0.36707	B	0.000231	0.47286	D	0.241583	1	0.81001	D	1.575	0.39704	L	1.14	0.38397	T	-2.33	0.51646	N	0.347	0.38848	-1.0917	0.05254	T	0.063	0.26136	T	10	0.015879035	0.00334	T	0.01629	0.37474	T	0.171	0.43483	.	.	0.566480848757	0.56312	0.3048211868356733	0.30395	.	.	0.411705493927	0.26693	T	0.080811	0.36453	T	-0.418002	0.01762	T	-0.375628	0.36232	T	0.017670769943331	0.00499	T	0.884412	0.60756	D	0.13303593	0.30958	0.14656669	0.34719	0.13303593	0.30957	0.14656669	0.34718	-4.083	0.25039	T	.	.	0.161	0.35519	B	.	.	3.890665	0.56604	23.8	0.98571271472234245	0.43115	0.99283	0.93924	D	AEFGI	0.829490	0.74839	D	-0.18745308337415	0.33655	1.911929	-0.0319963128446853	0.38279	2.252939	0.999999975425141	0.74766	0.554377	0.28877	0	0.54472	0.11627	0	0.670488	0.60580	0	0.567892	0.33627	0	.	.	5.42	4.24	0.49486	4.805000	0.62253	7.946000	0.75701	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1329:0.0:0.0:0.8671	11.676	0.50694	831	0.39019	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	0.001832	0.000000	0.000000	0.000000	0.000000	0.008772	0.000000	0.008333	0.07143	173.44	33	chr3	132601191	.	T	C	173.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.858;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=36.86;MQRankSum=1.78;QD=8.26;ReadPosRankSum=-1.589;SOR=0.551	GT:AD:DP:GQ:PL	0/1:11,10:21:99:184,0,224	6	0	1	0
chr3	133757925	133757925	C	T	exonic	TF	.	nonsynonymous SNV	TF:NM_001354704:exon7:c.C646T:p.R216W,TF:NM_001063:exon8:c.C1027T:p.R343W,TF:NM_001354703:exon14:c.C895T:p.R299W	Atransferrinemia, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	888038	not_specified|not_provided|Atransferrinemia	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0012239,MONDO:MONDO:0008846,MedGen:C0521802,OMIM:209300,Orphanet:1195	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.183	0.126029099385	0.0010	0.000599042	0.0008	9.626e-05	0.0006	0	0	0.0013	0.0011	6.078e-05	0.0008409	130	154602	rs150854910	0.0011	0.0011	0.0010	0.0011	0.0013	0.0010	0.0010	0.0012	0.0012	5.974e-05	0.0005	0	0	0.0003	0.0009	0.0013	0.0007	0.0002	0.0009	0.0009	0.0009	0.0009	0.0018	0.0008	0.0007	0.0015	0.0014	0.0003	0	0.0003	0	0	0.0003	0	0.0018	0	0	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.975	0.73362	D	0.003060	0.35512	N	0.352416	0.999999	0.08975	N	3.365	0.91266	M	1.18	0.37746	T	-5.0	0.82341	D	0.418	0.45803	-0.7402	0.58442	T	0.250	0.61912	T	10	0.066563666	0.09148	T	0.126029	0.80764	D	0.183	0.45592	.	.	0.754584596645	0.75235	0.4692992138143967	0.46848	1.09944149204	0.77684	0.297564834356	0.10039	T	0.461392	0.79818	T	-0.277829	0.10900	T	-0.177716	0.56734	T	0.125372518385887	0.14948	T	0.936706	0.76258	D	0.72976774	0.79710	0.75304204	0.85403	0.72203225	0.79276	0.73694426	0.84453	-7.102	0.54775	T	0.8549813511083862	0.92009	0.162	0.35705	B	.	.	4.786227	0.77623	26.7	0.99888638404238417	0.96359	0.63785	0.32198	D	AEFDBCI	0.854126	0.77113	D	0.386352462791411	0.60681	4.259808	0.2195148639966	0.50931	3.280155	0.999978256095548	0.50053	0.516011	0.20929	0	0.563428	0.19063	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.1	3.12	0.34986	2.411000	0.44254	0.766000	0.21355	0.599000	0.40250	0.976000	0.34826	0.189000	0.23482	0.956000	0.50813	0.3041:0.6959:0.0:0.0	13.469	0.60723	894	0.26265	Transferrin-like domain|Transferrin-like domain|Transferrin-like domain|Transferrin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	66.44	33	chr3	133757925	.	C	T	66.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.319;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.61;ReadPosRankSum=-1.15;SOR=0.446	GT:AD:DP:GQ:PL	0/1:1,3:4:24:77,0,24	6	0	1	0
chr3	142555898	142555898	T	-	exonic	ATR	.	frameshift deletion	ATR:NM_001354579:exon9:c.2128delA:p.I710Yfs*5,ATR:NM_001184:exon10:c.2320delA:p.I774Yfs*5	Seckel syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	363235	Familial_cutaneous_telangiectasia_and_oropharyngeal_predisposition_cancer_syndrome|Seckel_syndrome_1|not_provided	MONDO:MONDO:0013806,MedGen:C3281203,OMIM:614564,Orphanet:313846|MONDO:MONDO:0008869,MedGen:C4551474,OMIM:210600,Orphanet:808|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	0.0053	0.0030	0.0011	0.0039	0.0002	0.0075	0.0084	0.0030	0.0046377	717	154602	rs757500301	0.0001	0.0036	0.0001	0.0002	0.0009	0.0001	0.0001	0.0007	0.0006	0.0004	0.0009	0.0003	2.727e-05	0.0002	0	8.105e-05	0.0002	0.0005	3.99e-05	0.0001	5.192e-05	2.727e-05	0.0002	1.732e-05	1.141e-05	3.276e-05	1.932e-05	9.765e-05	0	0	0	0	0	0	1.481e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	41.18	54	chr3	142555897	.	AT	A	41.18	.	AC=2;AF=0.143;AN=14;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=20.59;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:57,6,0	6	1	0	0
chr3	142820955	142820955	A	T	exonic	PCOLCE2	.	stopgain	PCOLCE2:NM_013363:exon8:c.T1040A:p.L347X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	2.09	0.20122	T	0.01	0.06868	N	0.143	0.14338	-1.0532	0.13520	T	0.061	0.25635	T	6	0.37553144	0.53802	T	.	.	.	0.219	0.51417	0.397	0.42426	0.68576314552	0.68307	.	.	.	.	.	.	.	0.011604	0.10331	T	-0.0153502	0.49513	T	-0.259826	0.48841	T	0.995457053184509	0.87455	D	0.226077	0.07366	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.669	0.71681	P	.;.	.;.	9.152494	0.98539	40	0.99334236761793548	0.59895	0.99395	0.95476	D	AEFBI	0.976366	0.99669	D	0.949390018152874	0.93961	12.40035	0.83787636598892	0.92288	11.34099	0.99999999859307	0.74766	0.626454	0.40138	0	0.627178	0.54094	0	0.80507	0.99327	0	0.530356	0.10902	0	.	.	5.64	5.64	0.86480	8.877000	0.92017	11.206000	0.89223	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	1.0:0.0:0.0:0.0	15.843	0.78646	608	0.67185	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	52.44	33	chr3	142820955	.	A	T	52.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.282;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.83;ReadPosRankSum=0.282;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,2:9:63:0|1:142820954_C_T:63,0,288:142820954	6	0	1	0
chr3	151438247	151438247	T	C	exonic	IGSF10	.	nonsynonymous SNV	IGSF10:NM_001178145:exon2:c.A251G:p.Y84C,IGSF10:NM_001178146:exon2:c.A251G:p.Y84C,IGSF10:NM_001385061:exon7:c.A6314G:p.Y2105C,IGSF10:NM_001385060:exon8:c.A6314G:p.Y2105C,IGSF10:NM_178822:exon8:c.A6314G:p.Y2105C,IGSF10:NM_001385062:exon9:c.A6314G:p.Y2105C,IGSF10:NM_001385063:exon9:c.A6314G:p.Y2105C	.	431	1082	9	0	0	9	0.00414174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.354	0.031979660741	7.7e-05	0.00119808	0.0004	0	0	0	0	7.492e-05	0	0.0030	0.000401	62	154602	rs370277399	0.0002	0.0002	0.0001	0.0002	0.0022	0.0001	0.0001	0.0019	0.0018	2.987e-05	4.472e-05	0	0	0	0.0010	2.518e-05	0.0002	0.0022	0.0001	0.0001	3.855e-05	0.0002	0.0031	7.572e-05	6.278e-05	0.0019	0.0015	0	0	6.541e-05	0	0	0	0	2.94e-05	0	0.0031	0.005	0.63226	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000552	0.43413	D	0.000000	0.999967	0.52935	D	2.07	0.56829	M	1.66	0.27486	T	-8.3	0.96976	D	0.716	0.71854	-0.6328	0.63451	T	0.229	0.59484	T	10	0.04252538	0.03010	T	0.03198	0.53925	D	0.354	0.67510	.	.	0.784285616252	0.78228	0.5531040696629261	0.55236	0.193382323107	0.21670	0.458952844143	0.33167	T	0.159987	0.50365	T	-0.259221	0.12991	T	-0.150367	0.59211	T	0.319364125473647	0.25796	T	0.905809	0.66782	D	0.5023187	0.67231	0.54506105	0.73703	0.5023187	0.67232	0.54506105	0.73703	-9.579	0.71350	D	.	.	0.374	0.58060	A	.	.	4.407560	0.68162	25.2	0.99790570274462997	0.87661	0.97842	0.77538	D	AEFBI	.	.	.	0.752982575431285	0.83101	7.929452	0.71323066993395	0.83384	8.007357	0.9999472780634	0.47345	0.487112	0.14033	0	0.573888	0.26702	0	0.536957	0.11973	0	0.564101	0.26826	0	.	.	5.79	5.79	0.91751	3.751000	0.54882	6.133000	0.53944	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:0.0:1.0	16.131	0.81247	814	0.42100	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	63.44	41	chr3	151438247	.	T	C	63.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.385;DP=255;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=1.44;SOR=0.991	GT:AD:DP:GQ:PL	0/1:3,3:6:72:74,0,72	6	0	1	0
chr3	151744132	151744132	A	G	exonic	AADACL2	.	nonsynonymous SNV	AADACL2:NM_207365:exon3:c.A401G:p.N134S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00163236413281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.17296	T	0.455	0.12776	T	0.167	0.28604	B	0.081	0.28987	B	0.619467	0.10791	N	0.842861	1	0.08975	N	1.1	0.28011	L	2.84	0.10674	T	-2.38	0.52451	N	0.095	0.07535	-0.9521	0.40608	T	0.020	0.08266	T	10	0.081477314	0.13341	T	0.001632	0.02651	T	0.018	0.03083	0.341	0.33302	0.0297737177859	0.01360	0.12220961315704464	0.12147	0.0601548666932	0.06689	0.322019159794	0.13727	T	0.081288	0.36561	T	-0.396114	0.02455	T	-0.806767	0.01739	T	0.0772095225447256	0.09627	T	.	.	.	0.07222753	0.16050	0.0794341	0.17880	0.07222753	0.16049	0.0794341	0.17880	-2.733	0.07584	T	.	.	0.078	0.06849	B	.	.	0.871084	0.12438	8.973	0.53227821042599344	0.04898	0.04294	0.09839	N	AEFDGBIJ	0.061380	0.11730	N	-0.980026831680985	0.09030	0.4257508	-1.01314085315125	0.09496	0.4727586	0.994589010518123	0.33706	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.662026	0.63922	0	.	.	5.18	-0.117	0.12891	-0.136000	0.10384	0.536000	0.19291	-0.095000	0.16041	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.513:0.1337:0.2242:0.1291	1.508	0.02340	866	0.32446	Alpha/beta hydrolase fold-3	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	64.44	34	chr3	151744132	.	A	G	64.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=1.65;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:75:0|1:151744130_A_G:75,0,120:151744130	6	0	1	0
chr3	154122017	154122017	T	A	exonic	ARHGEF26	.	nonsynonymous SNV	ARHGEF26:NM_001251962:exon2:c.T25A:p.F9I,ARHGEF26:NM_001251963:exon2:c.T25A:p.F9I,ARHGEF26:NM_015595:exon2:c.T25A:p.F9I	.	427	1033	57	5	0	67	0.0314112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0067	0.00738818	0.0098	0.0017	0.0036	0	0.0062	0.0101	0.0129	0.0262	0.0091267	1411	154602	rs139430962	0.0097	0.0097	0.0091	0.0104	0.0245	0.0096	0.0095	0.0237	0.0233	0.0012	0.0043	0.0010	5.11e-05	0.0066	0.0212	0.0097	0.0089	0.0245	0.0067	0.0067	0.0064	0.0070	0.0278	0.0064	0.0062	0.0240	0.0225	0.0013	0.0011	0.0061	0.0020	0.0002	0.0045	0.0136	0.0098	0.0076	0.0278	0.0	0.91255	D	0.096	0.52060	T	0.001	0.07471	B	0.001	0.04355	B	0.000190	0.48115	D	0.140928	0.558637	0.32194	D	1.78	0.46185	L	0.23	0.64630	T	-0.91	0.30762	N	0.233	0.38438	-1.0122	0.26228	T	0.071	0.28871	T	10	0.003982842	0.00077	T	.	.	.	0.024	0.04979	.	.	0.459818148978	0.45609	0.13923310431093144	0.13846	0.121683234402	0.13713	0.574688792229	0.49339	T	0.002676	0.02065	T	-0.420583	0.01696	T	-0.359329	0.38131	T	0.0941204471095192	0.11697	T	0.592841	0.22456	T	0.54745376	0.69814	0.28995273	0.55016	0.54745376	0.69815	0.28995273	0.55015	-3.511	0.16600	T	.	.	0.076	0.37159	B	.;.;.;.	.;.;.;.	2.139647	0.27245	17.40	0.98046948600260686	0.37835	0.71905	0.35217	D	AEFDGBCIJ	0.150255	0.27451	N	-0.463189237740392	0.23295	1.249935	-0.320018905430494	0.27452	1.523414	0.999999999235656	0.74766	0.72623	0.87236	0	0.596491	0.49125	0	0.594344	0.31042	0	0.618803	0.45993	0	.	.	4.79	2.38	0.28415	0.882000	0.27824	-0.375000	0.09580	0.665000	0.62972	0.997000	0.40164	0.000000	0.08366	0.967000	0.53440	0.1533:0.0862:0.0:0.7605	5.602	0.16638	758	0.50837	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019134	0.010101	0.010870	0.011696	0.000000	0.025862	0.039634	0.034091	0.07143	63.44	43	chr3	154122017	.	T	A	63.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.524;DP=222;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.524;SOR=1.179	GT:AD:DP:GQ:PL	0/1:2,3:5:34:74,0,34	6	0	1	0
chr3	157317132	157317132	C	T	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon10:c.G1805A:p.S602N,VEPH1:NM_001167912:exon10:c.G1805A:p.S602N,VEPH1:NM_024621:exon10:c.G1805A:p.S602N	.	434	1085	2	1	0	4	0.00183993	.	.	.	2372690	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.105	0.00650614187619	0.0004	0.000998403	0.0008	0.0003	0.0011	0	0	0.0009	0.0022	0.0010	0.000718	111	154602	rs145883418	0.0009	0.0009	0.0009	0.0009	0.0061	0.0008	0.0008	0.0045	0.0039	0.0002	0.0006	0.0002	0	1.872e-05	0.0061	0.0010	0.0009	0.0009	0.0008	0.0008	0.0007	0.0009	0.0030	0.0007	0.0007	0.0023	0.0021	0.0002	0	0.0030	0	0	0	0.0034	0.0009	0.0038	0	0.15	0.30375	T	0.013	0.63109	D	0.663	0.40973	P	0.259	0.39405	B	0.000001	0.84330	D	0.094038	0.992968	0.41795	D	2.155	0.60227	M	2.88	0.10291	T	-1.32	0.32991	N	0.484	0.51851	-1.1407	0.01332	T	0.039	0.16763	T	10	0.02150172	0.00516	T	0.006506	0.17129	T	0.105	0.29889	.	.	0.434160288164	0.43035	0.36131286212140085	0.36045	0.245885684845	0.27115	0.663511872292	0.61912	T	0.091786	0.38869	T	-0.503297	0.00548	T	-0.552075	0.17126	T	0.0425766333937645	0.04160	T	0.860314	0.61435	D	0.23722395	0.46583	0.20500022	0.44649	0.23722395	0.46583	0.20500022	0.44648	-4.772	0.45741	T	.	.	0.580	0.68061	P	.;.;.	.;.;.	3.811983	0.54986	23.6	0.99454242581509678	0.65427	0.94996	0.63061	D	AEFGI	0.753397	0.69360	D	0.352966854670824	0.58896	4.064811	0.459776512759529	0.65347	4.812332	0.999610039122981	0.40981	0.706298	0.61202	0	0.573888	0.26702	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.6	5.6	0.84997	5.563000	0.67055	7.607000	0.61769	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	18.390	0.90424	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	0.002014	0.005051	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.1429	295.21	33	chr3	157317132	.	C	T	295.21	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.35;DP=216;ExcessHet=0;FS=3.358;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=22.71;ReadPosRankSum=-1.474;SOR=0.707	GT:AD:DP:GQ:PL	1/1:1,12:13:29:316,29,0	6	1	0	0
chr3	195780034	195780034	A	0	exonic;splicing	MUC4;MUC4	NM_001322468:exon15:c.10105+1T>0	.	.	.	487	564	422	42	7	513	0.30967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	6283.65	148	chr3	195780034	.	A	*	6283.65	.	AC=5;AF=0.357;AN=14;DP=1829;ExcessHet=0.3696;FS=0;MLEAC=5;MLEAF=0.357;MQ=53.76;QD=5.53;SOR=0.7	GT:AD:DP:GQ:PL	0/1:23,5:28:99:142,0,921	3	1	3	0
chr3	195781220	195781220	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	15114.0	228	chr3	195781220	.	T	*	15114.0	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.767;DP=2130;ExcessHet=0.4813;FS=0.546;MLEAC=1;MLEAF=0.071;MQ=58.7;MQRankSum=10.38;QD=17.89;ReadPosRankSum=1.3;SOR=0.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,6:33:99:0|1:195781188_TG_T:170,0,1054:195781188	6	0	1	0
chr3	195781230	195781230	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	5098.35	200	chr3	195781230	.	A	*	5098.35	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.542;DP=2167;ExcessHet=0.3476;FS=0.545;MLEAC=1;MLEAF=0.083;MQ=54.82;MQRankSum=-3.19;QD=10.71;ReadPosRankSum=-9.625;SOR=0.802	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,6:33:99:0|1:195781188_TG_T:170,0,1054:195781188	5	0	1	1
chr3	195781237	195781237	G	0	exonic	MUC4	.	.	.	.	457	758	281	0	26	307	0.156372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	18647.3	293	chr3	195781237	.	G	*	18647.3	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.952;DP=2601;ExcessHet=2.5225;FS=3.383;MLEAC=1;MLEAF=0.083;MQ=56.52;MQRankSum=-7.934;QD=11.63;ReadPosRankSum=-8.785;SOR=0.987	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,6:33:99:0|1:195781188_TG_T:170,0,1054:195781188	5	0	1	1
chr3	195781555	195781555	-	CC	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.10024_10025insGG:p.T3342Rfs*918,MUC4:NM_001322468:exon12:c.8824_8825insGG:p.S2942Rfs*560	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0673	0.0116	0.0319	0.0508	0.1072	0.0441	0.1087	0.1044	.	.	.	rs767488255	3.671e-05	0.0020	3.447e-05	3.903e-05	0.0003	2.783e-05	2.478e-05	5.335e-05	3.146e-05	0.0002	6.518e-05	4.921e-05	3.324e-05	0.0003	0.0003	1.933e-05	0.0001	0	0.0008	0.0046	0.0007	0.0010	0.0018	0.0007	0.0007	0.0010	0.0007	0.0010	0	0.0009	0.0006	0.0018	0.0015	0	0.0006	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	59.35	204	chr3	195781555	.	G	GCC	59.35	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.681;DP=2530;ExcessHet=0.3476;FS=2.198;MLEAC=1;MLEAF=0.083;MQ=56.78;MQRankSum=-3.981;QD=0.09;ReadPosRankSum=-0.672;SOR=1.155	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,3:22:69:0|1:195781522_A_G:69,0,789:195781522	5	0	1	1
chr3	195781558	195781559	TC	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.10021_10022del:p.D3341Hfs*32,MUC4:NM_001322468:exon12:c.8821_8822del:p.T2941Qfs*9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0681	0.0117	0.0346	0.0520	0.1081	0.0448	0.1087	0.1052	.	.	.	rs760242746	4.615e-05	0.0025	4.469e-05	4.764e-05	0.0005	3.567e-05	3.224e-05	0.0003	0.0002	0.0005	6.619e-05	0	3.409e-05	0.0004	0.0003	2.124e-05	8.638e-05	0	0.0007	0.0048	0.0006	0.0008	0.0018	0.0006	0.0005	0.0009	0.0007	0.0008	0	0.0009	0.0007	0.0018	0.0014	0	0.0005	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	59.35	204	chr3	195781557	.	GTC	G	59.35	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.15;DP=2535;ExcessHet=0.3476;FS=2.198;MLEAC=1;MLEAF=0.083;MQ=56.46;MQRankSum=-3.981;QD=0.09;ReadPosRankSum=-1.64;SOR=1.155	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,3:22:69:0|1:195781522_A_G:69,0,789:195781522	5	0	1	1
chr3	195781628	195781628	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	13811.8	197	chr3	195781628	.	C	*	13811.8	.	AC=7;AF=0.5;AN=14;BaseQRankSum=2.55;DP=2021;ExcessHet=1.1394;FS=1.351;MLEAC=7;MLEAF=0.5;MQ=55.87;MQRankSum=-2.156;QD=7.01;ReadPosRankSum=0.308;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:19,7:26:99:.:.:239,0,753:.	2	2	3	0
chr3	195781727	195781727	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G9853A:p.D3285N,MUC4:NM_001322468:exon11:c.G8749A:p.D2917N	.	459	1061	2	0	0	2	0.00094162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.000773422716589	.	.	0.0003	0.0030	0	0	0	0	0	0.0001	.	.	.	rs1217189945	0.0001	0.0007	0.0002	0.0001	0.0062	0.0001	0.0001	0.0054	0.0051	0.0062	9.154e-05	0	0.0001	0	0.0003	1.536e-05	0.0001	2.687e-05	0.0001	0.0007	0.0001	0.0001	0.0005	6.831e-05	5.35e-05	0.0001	9.894e-05	0.0003	0	0.0003	0	0.0005	0	0	1.774e-05	0	0	0.207	0.19854	T	0.46	0.12668	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.5	0.31731	T	-0.12	0.08809	N	0.056	0.02759	-1.0032	0.28992	T	0.029	0.12365	T	8	0.011815995	0.00257	T	7.73E-4	0.00568	T	0.021	0.04004	.	.	0.0138822411134	0.00435	2.743603196124897E-4	0.00024	.	.	0.540704369545	0.44544	T	.	.	.	-0.401285	0.02271	T	-0.814195	0.01573	T	0.0193586512932325	0.00641	T	0.670833	0.27951	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.15921	B	.;.	.;.	2.066037	0.26275	17.06	0.92174777314428225	0.21539	0.00078	0.00535	N	AEFBI	0.051815	0.09190	N	-1.24298654278773	0.04392	0.198147	-1.33118792865804	0.04032	0.1893627	1.24445491729759E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.423	0.423	0.15679	-1.178000	0.03203	-0.090000	0.12069	0.084000	0.17577	0.001000	0.13787	0.000000	0.08366	0.023000	0.12082	1.0E-4:0.5559:0.444:1.0E-4	4.212	0.09970	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	.	.	.	.	.	.	.	.	0.07143	216.44	37	chr3	195781727	.	C	T	216.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.4;DP=630;ExcessHet=0;FS=8.82;MLEAC=1;MLEAF=0.071;MQ=45.15;MQRankSum=3.84;QD=12.73;ReadPosRankSum=0.187;SOR=2.815	GT:AD:DP:GQ:PL	0/1:9,8:17:99:227,0,200	6	0	1	0
chr3	195785088	195785088	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	239.4	799	chr3	195785088	.	G	*	239.4	.	AC=2;AF=0.2;AN=10;BaseQRankSum=1.32;DP=4640;ExcessHet=0;FS=0.573;MLEAC=2;MLEAF=0.2;MQ=57.48;MQRankSum=0.325;QD=0.5;ReadPosRankSum=-0.181;SOR=0.608	GT:AD:DP:GQ:PL	0/1:12,12:42:59:657,251,758	3	0	2	2
chr3	195785133	195785133	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	81945.5	947	chr3	195785133	.	T	*	81945.5	.	AC=2;AF=0.25;AN=8;DP=4831;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.375;MQ=56.74;QD=33.38;SOR=0.734	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,12:39:99:.:.:1847,952,918:.	2	0	2	3
chr3	195786791	195786791	C	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G4789C:p.D1597H,MUC4:NM_001322468:exon5:c.G4789C:p.D1597H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.000564905621775	.	.	4.416e-05	0	0	0.0017	0	0	0	0	3.84e-05	1	26028	rs1419901911	0.0001	0.0006	0.0002	0.0001	0.0021	0.0001	0.0001	0.0016	0.0014	0.0021	0.0003	0.0001	0.0005	0.0007	0	6.491e-05	0.0003	6.515e-05	0.0012	0.0040	0.0015	0.0009	0.0027	0.0010	0.0009	0.0015	0.0013	0.0021	0.0089	0.0005	0.0020	0.0027	0.0016	0	0.0007	0.0025	0.0005	0.195	0.24758	T	0.031	0.54159	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.13	0.38556	T	-0.2	0.10136	N	0.059	0.04307	-1.0377	0.18016	T	0.042	0.17910	T	8	0.0061503053	0.00138	T	5.65E-4	0.00221	T	0.006	0.00375	.	.	0.0138822411134	0.00435	0.001845070739462962	0.00170	.	.	0.507013142109	0.39804	T	.	.	.	-0.366982	0.03749	T	-0.76492	0.02939	T	0.00502170143905353	0.00054	T	0.690631	0.30012	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.26825	B	.;.	.;.	0.594441	0.09631	6.402	0.27291901691078813	0.01348	0.00056	0.00418	N	AEFBI	0.029388	0.02763	N	-1.86949559510118	0.00396	0.01704315	-1.95569412163627	0.00378	0.01672752	0.00100759864977713	0.08115	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.312	-0.624	0.10972	-1.360000	0.02706	-4.297000	0.02231	0.055000	0.17525	0.000000	0.06391	0.000000	0.08366	0.052000	0.15357	0.0:0.2898:0.4246:0.2857	2.813	0.05112	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.125	59.26	192	chr3	195786791	.	C	G	59.26	.	AC=1;AF=0.125;AN=8;BaseQRankSum=1.08;DP=2068;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.125;MQ=57.39;MQRankSum=-4.398;QD=1.74;ReadPosRankSum=-0.841;SOR=1.141	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,5:34:67:0|1:195786791_C_G:67,0,1181:195786791	3	0	1	3
chr3	196886230	196886230	G	A	exonic	SENP5	.	nonsynonymous SNV	SENP5:NM_001308045:exon2:c.G1049A:p.G350D,SENP5:NM_152699:exon2:c.G1049A:p.G350D	.	429	1046	46	1	0	48	0.0224299	.	.	.	698002	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.176	.	0.0032	0.00339457	0.0053	0.0009	0.0016	0	0.0021	0.0048	0.0088	0.0165	0.0049999	773	154602	rs34326043	0.0052	0.0052	0.0049	0.0056	0.0177	0.0051	0.0051	0.0169	0.0166	0.0008	0.0017	0.0050	0	0.0032	0.0083	0.0048	0.0051	0.0177	0.0032	0.0032	0.0032	0.0032	0.0135	0.0029	0.0028	0.0108	0.0099	0.0008	0	0.0027	0.0063	0.0002	0.0013	0.0034	0.0043	0.0052	0.0135	0.001	0.78490	D	0.006	0.70582	D	0.986	0.61523	D	0.674	0.53247	P	0.041470	0.23946	N	0.433434	0.999835	0.81001	D	2.215	0.62545	M	1.33	0.35031	T	-0.81	0.25551	N	0.795	0.79118	-0.9580	0.39552	T	0.135	0.44914	T	10	0.005043119	0.00109	T	.	.	.	0.176	0.44373	.	.	0.525266285433	0.52174	0.28638960740791314	0.28551	0.641594467787	0.57746	0.427772462368	0.28904	T	0.009012	0.08229	T	-0.104752	0.35636	T	0.0897279	0.76226	D	0.0123640726748312	0.00202	T	0.868713	0.57175	D	0.35352296	0.57340	0.3804287	0.63075	0.35352296	0.57340	0.3804287	0.63075	-3.584	0.18641	T	.	.	0.223	0.45446	B	.;.	.;.	3.994106	0.58801	24.0	0.99785734057949749	0.87219	0.95368	0.64448	D	AEFDBCI	0.539764	0.55661	D	0.558107321876487	0.70576	5.522001	0.599793899831518	0.74926	6.220836	0.999999997546957	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	4.489000	0.60035	9.937000	0.82626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	15.055	0.71577	600	0.68026	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.020202	0.001359	0.002924	0.000000	0.008621	0.012195	0.007576	0.1429	2142.24	35	chr3	196886230	.	G	A	2142.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.534;DP=332;ExcessHet=0.3476;FS=1.272;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=0.736;SOR=0.813	GT:AD:DP:GQ:PL	0/1:1,7:8:19:197,0,19	5	0	2	0
chr4	1737610	1737610	C	T	exonic	TACC3	.	nonsynonymous SNV	TACC3:NM_006342:exon10:c.C1849T:p.P617S	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.0119839897747	.	.	0.0002	0	0	0	0	0.0003	0	0	5.82e-05	9	154602	rs769227637	0.0006	0.0006	0.0006	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0001	0	0	0	0	0.0002	0.0008	0.0004	2.664e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0002	0.0001	0	0.0001	0	0	0	0	0.0004	0	0	0.106	0.29688	T	0.041	0.50514	D	0.998	0.73220	D	0.862	0.61339	P	0.155462	0.17829	N	0.396912	1	0.08975	N	0.975	0.24501	L	2.88	0.10291	T	-3.17	0.64363	D	0.132	0.12770	-1.0545	0.13172	T	0.039	0.16935	T	10	0.119917035	0.22702	T	0.011984	0.30135	T	0.038	0.09825	.	.	0.301789629655	0.29801	0.27866409838710066	0.27779	0.112956299353	0.12750	0.412357717752	0.26783	T	0.286452	0.65924	T	-0.604624	0.00137	T	-0.665905	0.07873	T	0.041165037770669	0.03901	T	0.267173	0.04416	T	0.032341078	0.03241	0.0486145	0.07258	0.032341078	0.03241	0.0486145	0.07257	-3.367	0.14615	T	.	.	0.081	0.08033	B	.	.	0.555373	0.09238	6.022	0.99107600902251847	0.52648	0.12002	0.16998	N	AEFBCI	0.045509	0.07451	N	-0.736505845893636	0.15002	0.7522635	-0.881457356104698	0.12534	0.6452659	0.999661877271272	0.41534	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.86	1.15	0.19876	-0.404000	0.07267	-1.010000	0.06616	-0.940000	0.02096	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.5475:0.1701:0.2823	4.605	0.11763	799	0.44747	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	79.4	35	chr4	1737610	.	C	T	79.4	.	AC=2;AF=0.143;AN=14;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=19.85;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,4:4:12:99,12,0	6	1	0	0
chr4	5640522	5640522	C	T	exonic	EVC2	.	nonsynonymous SNV	EVC2:NM_001166136:exon10:c.G1222A:p.G408S,EVC2:NM_147127:exon10:c.G1462A:p.G488S	Ellis-van Creveld syndrome, Autosomal recessive;Weyers acrofacial dysostosis, Autosomal dominant	4	1512	5	1	0	7	0.00230947	.	.	YES	265941	Ellis-van_Creveld_syndrome|Curry-Hall_syndrome|EVC2-related_disorder|not_specified|not_provided	MONDO:MONDO:0009162,MedGen:C0013903,OMIM:225500,Orphanet:289|MONDO:MONDO:0008673,MedGen:C0457013,OMIM:193530,Orphanet:952|.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.101	0.00795651746499	0.0016	0.00139776	0.0020	0.0007	0.0016	0	0.0006	0.0029	0.0055	0.0013	0.0019534	302	154602	rs145277501	0.0028	0.0028	0.0028	0.0028	0.0033	0.0027	0.0027	0.0032	0.0031	0.0003	0.0023	0.0020	0.0001	0.0009	0.0021	0.0033	0.0026	0.0011	0.0020	0.0020	0.0023	0.0017	0.0037	0.0018	0.0018	0.0030	0.0027	0.0005	0	0.0037	0.0014	0.0002	0.0008	0.0068	0.0030	0.0019	0.0010	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.003776	0.34511	N	0.254820	1	0.08975	N	-2.3	0.00097	N	-0.95	0.75438	T	1.72	0.00961	N	0.082	0.06720	-0.9852	0.33784	T	0.075	0.30210	T	10	0.00306651	0.00051	T	0.007957	0.21110	T	0.101	0.28911	.	.	0.458917189328	0.45515	0.041656732012887596	0.04110	0.0202767068331	0.01990	0.460519611835	0.33382	T	0.101759	0.40883	T	-0.540997	0.00330	T	-0.552932	0.17046	T	0.0026800264057817	0.00028	T	0.294271	0.05429	T	0.029580375	0.02476	0.0580257	0.10653	0.030638702	0.02760	0.06479058	0.13036	-3.188	0.13227	T	.	.	0.054	0.00297	B	.;.	.;.	1.455194	0.18768	13.91	0.3130098391141154	0.01757	0.00049	0.00384	N	AEFDGBI	0.027724	0.02318	N	-1.27132772250513	0.04025	0.1809046	-1.12782673027727	0.07172	0.3478884	0.999987188644489	0.51787	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.82	3.82	0.43153	1.585000	0.36210	1.634000	0.27755	-0.162000	0.11565	0.035000	0.20724	0.033000	0.21346	0.610000	0.31640	0.0:0.1985:0.0:0.8015	6.521	0.21474	958	0.09170	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003525	0.000000	0.006793	0.002924	0.000000	0.000000	0.003049	0.003788	0.1429	237.31	50	chr4	5640522	.	C	T	237.31	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.59;DP=384;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=26.37;ReadPosRankSum=-0.282;SOR=0.446	GT:AD:DP:GQ:PL	1/1:1,8:9:17:258,17,0	6	1	0	0
chr4	17614730	17614730	C	G	exonic	MED28	.	nonsynonymous SNV	MED28:NM_025205:exon1:c.C76G:p.Q26E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.00426679122943	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1279062630	2.052e-06	2.052e-06	4.084e-06	0	2.987e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	2.987e-05	0	0	0	0	0	1.799e-06	0	0	6.568e-06	6.566e-06	1.284e-05	0	2.411e-05	0	0	.	.	2.411e-05	0	0	0	0	0	0	0	0	0	0.103	0.30097	T	0.118	0.36233	T	0.293	0.32367	B	0.073	0.28123	B	0.000383	0.44960	D	0.234002	0.998313	0.44758	D	0.695	0.17993	N	.	.	.	-0.28	0.11547	N	0.426	0.46555	-0.9175	0.45891	T	0.147	0.47237	T	9	0.20749521	0.37047	T	0.004267	0.10341	T	0.403	0.71636	0.154	0.05752	0.583365392187	0.58009	0.5016197353025399	0.50083	0.0455934365918	0.04953	0.572593390942	0.49044	T	0.135661	0.46760	T	-0.139413	0.29985	T	-0.255886	0.49234	T	0.307227028215595	0.25300	T	0.611339	0.23205	T	0.18965839	0.40516	0.2346787	0.48691	0.18965839	0.40516	0.2346787	0.48690	-4.392	0.29448	T	.	.	0.110	0.21087	B	.	.	3.214292	0.43764	21.8	0.9885575395617	0.47373	0.94344	0.60866	D	ALL	0.760754	0.69868	D	0.153745788249462	0.48989	3.10449	0.327891262924901	0.57185	3.883391	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.46	5.46	0.80021	5.301000	0.65520	4.727000	0.44534	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:1.0:0.0:0.0	19.512	0.95141	664	0.61548	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr4	17614730	.	C	G	33.22	.	AC=2;AF=0.143;AN=14;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr4	70366897	70366897	C	A	exonic	SMR3A	.	nonsynonymous SNV	SMR3A:NM_012390:exon3:c.C308A:p.P103Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00568138529399	0.0002	.	8.246e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs368646636	2.326e-05	2.326e-05	2.042e-05	2.613e-05	0.0005	1.675e-05	1.478e-05	0.0001	7.544e-05	0	0	0	0	0	0.0005	2.159e-05	3.313e-05	5.797e-05	1.317e-05	1.971e-05	1.287e-05	1.348e-05	2.944e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.944e-05	0	0	0.0	0.91255	D	0.028	0.54934	D	0.738	0.42905	P	0.3	0.41053	B	.	.	.	.	1	0.08975	N	1.78	0.46185	L	1.64	0.27822	T	-3.62	0.69593	D	0.276	0.31253	-1.0481	0.14932	T	0.042	0.17910	T	9	0.08820516	0.15166	T	0.005681	0.14712	T	0.013	0.01715	.	.	0.0666544352282	0.05500	0.11584647257568718	0.11512	0.0577316834944	0.06392	.	.	.	0.035686	0.23816	T	-0.338949	0.05461	T	-0.543126	0.17991	T	0.390166133642197	0.28571	T	0.40366	0.10339	T	0.3227545	0.54871	0.29156962	0.55182	0.3227545	0.54871	0.29156962	0.55181	-4.926	0.36026	T	.	.	0.154	0.33981	B	.	.	1.714939	0.21836	15.37	0.78316792192872065	0.12248	0.05802	0.11739	N	AEFI	0.022976	0.01218	N	-0.695915888496455	0.16137	0.8195536	-0.8447670206558	0.13413	0.6956919	1.81065352628824E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.66	0.851	0.18128	0.121000	0.15496	0.048000	0.13961	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.503000	0.29084	0.2611:0.5893:0.0:0.1496	3.157	0.06117	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	.	.	.	.	.	.	.	.	0.07143	124.44	99	chr4	70366897	.	C	A	124.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.484;DP=745;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=1.24;SOR=0.307	GT:AD:DP:GQ:PL	0/1:6,4:10:99:135,0,188	6	0	1	0
chr4	74098908	74098908	T	C	exonic	CXCL2	.	nonsynonymous SNV	CXCL2:NM_002089:exon2:c.A115G:p.T39A	.	419	1075	27	1	0	29	0.0133089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	0.0054	0.00399361	0.0053	0.0013	0.0048	0	0.0017	0.0071	0.0011	0.0052	0.0055109	852	154602	rs142264518	0.0080	0.0080	0.0080	0.0080	0.0092	0.0079	0.0078	0.0090	0.0090	0.0013	0.0053	0.0071	0	0.0022	0.0060	0.0092	0.0069	0.0048	0.0053	0.0053	0.0056	0.0049	0.0084	0.0050	0.0049	0.0078	0.0076	0.0013	0	0.0070	0.0078	0	0.0016	0.0102	0.0084	0.0057	0.0035	0.464	0.08634	T	0.714	0.05452	T	0.412	0.35138	B	0.243	0.38752	B	0.374024	0.04379	N	1.352830	1	0.08975	N	0.91	0.23283	L	1.47	0.31987	T	-0.94	0.25118	N	0.13	0.12484	-1.0218	0.23129	T	0.031	0.13461	T	10	0.008147299	0.00185	T	.	.	.	0.029	0.06676	.	.	0.0611884634855	0.05136	0.055223335469588006	0.05463	0.519100328345	0.49743	0.501825511456	0.39083	T	0.111758	0.42750	T	-0.687276	0.00043	T	-0.755436	0.03279	T	0.00504711474146004	0.00054	T	0.458954	0.13262	T	0.067993216	0.14775	0.048668914	0.07276	0.067993216	0.14774	0.048668914	0.07275	-5.075	0.37643	T	.	.	0.070	0.03407	B	.	.	-1.332293	0.00411	0.008	0.85659637330782556	0.16031	0.05429	0.11302	N	ALL	0.127355	0.24469	N	-1.07008416053043	0.07199	0.3337245	-1.22133093208772	0.05568	0.2656721	0.999999999204032	0.74766	0.685219	0.55550	0	0.596491	0.49125	0	0.674405	0.61402	0	0.581474	0.35302	0	.	.	3.44	-3.03	0.05100	-3.414000	0.00532	-7.930000	0.01059	-1.009000	0.01772	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.6915:0.0:0.0:0.3085	7.821	0.28450	404	0.82510	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.010101	0.004076	0.000000	0.000000	0.000000	0.012195	0.003788	0.07143	113.44	34	chr4	74098908	.	T	C	113.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.1;DP=211;ExcessHet=0;FS=3.332;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=-1.068;SOR=0.105	GT:AD:DP:GQ:PL	0/1:2,6:8:58:124,0,58	6	0	1	0
chr4	75596318	75596318	A	G	exonic	CDKL2	.	nonsynonymous SNV	CDKL2:NM_001330724:exon10:c.T1345C:p.C449R,CDKL2:NM_003948:exon10:c.T1345C:p.C449R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0110396452886	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.859	0.08559	T	0.419	0.16865	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.822586	0.28863	N	-0.805	0.01590	N	-0.39	0.69158	T	0.38	0.03579	N	0.387	0.42834	-0.9827	0.34375	T	0.110	0.39651	T	9	0.0666028	0.09159	T	0.01104	0.28250	T	0.062	0.17934	0.478	0.55663	0.390531646278	0.38663	0.28055893764511397	0.27968	0.0241125835916	0.02450	0.45585462451	0.32743	T	0.060641	0.31441	T	-0.140416	0.29825	T	-0.439474	0.28867	T	0.0657180627583649	0.08037	T	0.69953	0.30934	T	0.24751839	0.47730	0.19816792	0.43636	0.24751839	0.47730	0.19816792	0.43635	-2.369	0.04946	T	.	.	0.105	0.28750	B	.;.	.;.	2.375919	0.30495	18.45	0.59723156729688731	0.06291	0.53799	0.29459	D	AEFI	0.207183	0.33338	N	-0.400960622633995	0.25436	1.380737	-0.190898580112057	0.31870	1.808	3.83961669283709E-5	0.03775	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.5	2.94	0.33188	1.569000	0.36037	4.694000	0.44378	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.7578:0.0:0.0854:0.1568	5.946	0.18454	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	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr4	75596318	.	A	G	33.22	.	AC=2;AF=0.143;AN=14;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr4	78421901	78421901	C	T	exonic	FRAS1	.	nonsynonymous SNV	FRAS1:NM_001166133:exon34:c.C4579T:p.R1527W,FRAS1:NM_025074:exon34:c.C4579T:p.R1527W	Fraser syndrome, Autosomal recessive	0	1500	21	1	0	23	0.00760834	.	.	.	194089	FRAS1-related_disorder|not_provided|Fraser_syndrome_1|not_specified|Inborn_genetic_diseases	.|MedGen:C3661900|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000,Orphanet:2052|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.237	0.0345845618254	0.0019	0.00139776	0.0024	0.0006	0.0040	0	0.0005	0.0031	0.0033	0.0019	0.0024709	382	154602	rs1872267	0.0029	0.0029	0.0028	0.0030	0.0206	0.0028	0.0028	0.0176	0.0165	0.0006	0.0041	0.0054	2.519e-05	0.0008	0.0206	0.0030	0.0038	0.0022	0.0026	0.0026	0.0025	0.0026	0.0051	0.0024	0.0023	0.0042	0.0039	0.0008	0	0.0051	0.0063	0	0.0004	0.0068	0.0032	0.0128	0.0019	0.009	0.57480	D	0.004	0.74150	D	.	.	.	.	.	.	0.109182	0.19495	N	0.501604	0.910955	0.36410	D	2.32	0.66415	M	0.78	0.49358	T	-4.0	0.74051	D	0.482	0.81261	-0.7367	0.58621	T	0.206	0.56389	T	10	0.02777487	0.00918	T	0.034585	0.55777	D	0.237	0.54074	.	.	0.813552112702	0.81179	0.479536063764076	0.47873	.	.	0.217010706663	0.01145	T	.	.	.	-0.385688	0.02867	T	-0.322786	0.42270	T	0.0149505278862864	0.00319	T	0.658334	0.27311	T	.	.	.	.	.	.	.	.	-5.475	0.44496	T	.	.	0.086	0.10739	B	.;.	.;.	3.820498	0.55160	23.6	0.99910527062422272	0.98022	0.65475	0.32750	D	AEFBI	0.284771	0.39756	N	0.364037970078274	0.59485	4.128271	0.330677865140439	0.57349	3.900429	0.0689781306949531	0.15476	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.564101	0.26826	0	.	.	5.81	5.81	0.92413	2.431000	0.44433	2.149000	0.30898	0.549000	0.26987	0.977000	0.34929	0.241000	0.23851	0.203000	0.21983	0.183:0.8169:0.0:0.0	14.513	0.67386	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	0.018630	0.050505	0.021739	0.011696	0.050000	0.008621	0.009146	0.003788	0.07143	48.44	37	chr4	78421901	.	C	T	48.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.718;DP=222;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.4;ReadPosRankSum=0.008;SOR=1.179	GT:AD:DP:GQ:PL	0/1:8,3:11:59:59,0,190	6	0	1	0
chr4	78508732	78508732	T	C	exonic	FRAS1	.	nonsynonymous SNV	FRAS1:NM_025074:exon63:c.T9506C:p.V3169A	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	0.4394	0.346	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.757	0.0822650296365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.70582	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.652	0.66272	0.529	0.90956	D	0.692	0.89360	D	10	0.8419106	0.83348	D	0.082265	0.73862	D	.	.	.	.	0.741063859369	0.73873	0.5533152347053865	0.55257	.	.	0.772940993309	0.77865	T	.	.	.	0.261	0.79613	D	0.136988	0.79348	D	0.980328601458701	0.73299	D	0.875612	0.58729	D	.	.	.	.	.	.	.	.	-5.23	0.39245	T	.	.	0.600	0.68892	P	.	.	3.858896	0.55945	23.7	0.99729787362667155	0.82690	0.97852	0.77613	D	AEFBI	0.832806	0.75112	D	0.624369879188896	0.74718	6.180685	0.584428565692904	0.73822	6.033988	0.999999988851718	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	5.62	5.62	0.85714	6.113000	0.71239	5.026000	0.46786	0.502000	0.22824	1.000000	0.71638	1.000000	0.68203	0.847000	0.40026	0.0:0.0:0.0:1.0	15.797	0.78192	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr4	78508732	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr4	87340604	87340604	A	G	exonic	HSD17B11	.	nonsynonymous SNV	HSD17B11:NM_016245:exon6:c.T698C:p.L233S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.384	0.167808394983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.72154	D	0.014	0.76473	D	.	.	.	.	.	.	0.017432	0.27726	N	0.298550	0.998972	0.45795	D	.	.	.	-2.68	0.90391	D	-4.05	0.76414	D	0.248	0.28028	0.780	0.94165	D	0.814	0.93719	D	10	0.3729534	0.53616	T	0.167808	0.84608	D	0.384	0.70112	0.406	0.43902	0.889542543598	0.88845	0.7689353996091175	0.76842	0.471083547616	0.46372	0.373074382544	0.21272	T	.	.	.	0.121666	0.66539	D	-0.0630122	0.66121	T	0.963954329490662	0.66812	D	0.657134	0.26688	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.417	0.60805	A	.;.	.;.	4.220945	0.63840	24.6	0.99738588480691437	0.83337	0.65618	0.32798	D	AEFBI	0.428660	0.49209	N	0.361139639612077	0.59331	4.111553	0.249451105806055	0.52619	3.435483	0.999033337002404	0.38264	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.44	5.44	0.79348	2.961000	0.48861	7.991000	0.76112	0.756000	0.94297	0.966000	0.33990	1.000000	0.68203	0.956000	0.50813	1.0:0.0:0.0:0.0	13.324	0.59887	660	0.61921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	32	chr4	87340604	.	A	G	33.22	.	AC=2;AF=0.143;AN=14;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr4	102901328	102901328	A	G	exonic	SLC9B1	.	nonsynonymous SNV	SLC9B1:NM_139173:exon12:c.T1337C:p.V446A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.00643925364402	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1327935654	1.37e-06	2.736e-06	2.727e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	7.823e-05	0.0001	7.747e-05	7.9e-05	0.0002	2.624e-05	1.529e-05	1.777e-05	7.27e-06	0	0	0.0002	0	0	0	0.0062	0.0001	0	0	1.0	0.00964	T	1.0	0.01155	T	0.016	0.17332	B	0.02	0.19048	B	0.000618	0.42945	N	0.153979	1	0.81001	D	-0.615	0.02190	N	2.7	0.12162	T	1.01	0.01387	N	0.213	0.23758	-0.9962	0.30974	T	0.013	0.04890	T	9	0.09769705	0.17614	T	0.006439	0.16956	T	0.116	0.32463	0.669	0.80703	0.204665344411	0.20097	0.3999573593688878	0.39910	1.97522762311	0.93589	0.645212590694	0.59305	T	0.019959	0.15803	T	-0.177078	0.24170	T	-0.492137	0.23166	T	0.112276427149202	0.13657	T	0.873013	0.58094	D	0.041773368	0.06215	0.056932013	0.10261	0.041773368	0.06215	0.056932013	0.10261	0.089	0.00319	T	.	.	0.525	0.65696	A	.	.	2.653942	0.34557	19.66	0.79473595169391498	0.12758	0.56281	0.30077	D	AEFI	0.262823	0.38049	N	-0.286795909455227	0.29656	1.646616	-0.13523907177363	0.33981	1.94965	1.75392100895679E-4	0.05786	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.04	4.04	0.46262	3.501000	0.53085	6.917000	0.56917	0.691000	0.84096	0.998000	0.41325	1.000000	0.68203	0.975000	0.56047	0.7912:0.0:0.2088:0.0	5.310	0.15136	904	0.23766	Cation/H+ exchanger	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	40	chr4	102901328	.	A	G	33.22	.	AC=2;AF=0.143;AN=14;DP=300;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=54.17;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr4	108846152	108846152	A	G	exonic	COL25A1	.	nonsynonymous SNV	COL25A1:NM_001256074:exon24:c.T1421C:p.L474P,COL25A1:NM_032518:exon27:c.T1502C:p.L501P,COL25A1:NM_198721:exon27:c.T1502C:p.L501P	Fibrosis of extraocular muscles, congenital, 5, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.611	0.403788833043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.50676	T	0.259	0.23097	T	0.999	0.77913	D	0.999	0.92359	D	0.000010	0.62929	D	0.064290	1	0.81001	D	0.45	0.12780	N	-3.27	0.94904	D	-0.7	0.25118	N	0.706	0.72388	0.596	0.91842	D	0.770	0.92195	D	9	0.66448987	0.70346	D	0.403789	0.93454	D	0.611	0.84773	0.34	0.33141	0.957423976361	0.95697	0.5358524200100512	0.53510	1.18240533111	0.80054	0.682126998901	0.64573	T	0.023829	0.65521	T	0.303992	0.83285	D	0.198887	0.83067	D	0.956896483898163	0.64872	D	0.893911	0.63238	D	0.30116326	0.53009	0.42208913	0.66121	0.30116326	0.53009	0.42208913	0.66121	-11.435	0.82393	D	0.143770635463498	0.16371	0.609	0.72103	P	.;.;.;.;.	.;.;.;.;.	4.954806	0.81875	27.7	0.99804878961312027	0.88906	0.97593	0.75770	D	AEFI	0.953730	0.97026	D	0.443512914379851	0.63836	4.62516	0.509120399516336	0.68602	5.242789	0.99999983692453	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.24	5.24	0.72863	6.790000	0.74902	11.163000	0.87713	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	15.134	0.72222	752	0.51611	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr4	108846152	.	A	G	33.22	.	AC=2;AF=0.143;AN=14;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr4	122188005	122188005	C	A	exonic	KIAA1109	.	nonsynonymous SNV	KIAA1109:NM_015312:exon7:c.C738A:p.F246L,KIAA1109:NM_001384125:exon9:c.C738A:p.F246L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0177080467728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.38633	T	0.008	0.67890	D	0.243	0.30970	B	0.097	0.30390	B	0.018355	0.27503	U	0.141052	0.995841	0.49177	D	1.84	0.48285	L	-3.31	0.93835	D	-3.69	0.70432	D	0.851	0.84713	-0.8499	0.51975	T	0.190	0.54093	T	10	0.7302084	0.74246	D	0.017708	0.39515	T	0.692	0.88820	0.705	0.84145	0.669371813672	0.66658	0.5258794093096545	0.52511	0.806586536335	0.66499	0.91318166256	0.97762	D	0.206761	0.56620	T	0.252945	0.78876	D	0.125562	0.78601	D	0.884598970413208	0.53485	D	0.920308	0.71149	D	0.20406342	0.42504	0.15183027	0.35748	0.20406342	0.42504	0.15183027	0.35747	-9.637	0.71709	D	0.5470324475565995	0.61602	0.985	0.92114	P	.;.	.;.	2.268309	0.28992	17.98	0.99338277170191014	0.60051	0.91571	0.53808	D	AEFDBIJ	0.389628	0.46877	N	0.182904047063434	0.50380	3.228412	0.242331994777318	0.52213	3.397767	0.727511539004173	0.23004	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.44	4.49	0.54177	2.456000	0.44654	1.129000	0.24310	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.5248:0.0:0.4752	5.229	0.14730	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	.	.	.	.	.	.	.	.	0.1429	33.22	37	chr4	122188005	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=213;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr4	125490298	125490298	T	G	exonic	FAT4	.	nonsynonymous SNV	FAT4:NM_001291285:exon18:c.T13479G:p.S4493R,FAT4:NM_001291303:exon18:c.T13482G:p.S4494R,FAT4:NM_024582:exon18:c.T13476G:p.S4492R	Hennekam lymphangiectasia-lymphedema syndrome 2, Autosomal recessive;Van Maldergem syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.028878451015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.012	0.63918	D	0.435	0.38591	B	0.077	0.34752	B	0.282571	0.14918	U	0.497540	1	0.08975	N	0.89	0.21648	L	-0.81	0.75670	T	-1.02	0.26843	N	0.479	0.55193	-0.9374	0.43025	T	0.177	0.52209	T	10	0.20973596	0.37346	T	0.028878	0.51484	D	0.168	0.42943	0.363	0.36874	0.680691844653	0.67797	0.7484095901153498	0.74786	0.180060473032	0.20253	0.487993270159	0.37161	T	0.06707	0.33106	T	-0.0382556	0.46207	T	-0.292728	0.45487	T	0.130325759492081	0.15412	T	0.734627	0.35069	T	0.06629159	0.14250	0.06609071	0.13489	0.06629159	0.14250	0.06609071	0.13489	-4.621	0.32806	T	.	.	0.147	0.32372	B	.;.	.;.	1.123231	0.15092	11.58	0.9251781910813146	0.21958	0.12059	0.17034	N	AEFBI	0.137504	0.25850	N	-1.12717482834799	0.06164	0.2830062	-1.18170012123932	0.06215	0.2984784	0.00325154288859847	0.10018	0.706548	0.73137	0	0.588015	0.36545	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.17	-0.969	0.09783	-0.143000	0.10278	-4.549000	0.02100	-0.249000	0.07183	0.000000	0.06391	0.000000	0.08366	0.604000	0.31488	0.0:0.6024:0.0:0.3976	10.998	0.46804	884	0.28482	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	65.44	46	chr4	125490298	.	T	G	65.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.524;DP=334;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.524;SOR=1.179	GT:AD:DP:GQ:PL	0/1:2,3:5:34:76,0,34	6	0	1	0
chr4	139704055	139704055	G	T	exonic	MGST2	.	nonsynonymous SNV	MGST2:NM_001204367:exon4:c.G147T:p.L49F,MGST2:NM_001204366:exon5:c.G351T:p.L117F,MGST2:NM_002413:exon5:c.G351T:p.L117F	.	428	1086	7	0	1	8	0.00321248	.	.	.	2439474	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.104	0.0145783744024	7.7e-05	.	2.471e-05	0	0	0	0	4.495e-05	0	0	1.94e-05	3	154602	rs370504587	8.209e-06	8.209e-06	8.167e-06	8.25e-06	0.0005	4.38e-06	3.46e-06	0.0001	7.541e-05	0	0	0	0	0	0.0005	7.194e-06	1.656e-05	0	1.315e-05	1.314e-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	0.098	0.30800	T	0.19	0.28482	T	0.379	0.34321	B	0.27	0.39872	B	0.210179	0.16385	N	0.560310	1	0.08975	N	2.3	0.65703	M	0.27	0.59176	T	-2.53	0.54864	D	0.241	0.27316	-0.9886	0.32953	T	0.143	0.46569	T	10	0.14486289	0.27487	T	0.014578	0.34790	T	0.104	0.29647	0.699	0.83592	0.344017737713	0.34012	0.37427402204792193	0.37341	0.15587858973	0.17597	0.303452223539	0.10918	T	0.105723	0.41645	T	-0.120603	0.33026	T	-0.395529	0.33905	T	0.409040331840515	0.29282	T	0.634936	0.24909	T	0.12815708	0.29969	0.19171971	0.42646	0.12815708	0.29968	0.19171971	0.42645	-3.595	0.17785	T	.	.	0.079	0.07507	B	.;.	.;.	2.154288	0.27440	17.46	0.99476056888722708	0.66633	0.12572	0.17350	N	AEFBI	0.427993	0.49171	N	-0.597839929637607	0.19010	0.9915919	-0.632209138781093	0.18667	0.9982557	0.924940085206071	0.26797	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.96	3.22	0.36041	0.588000	0.23626	2.150000	0.30904	0.596000	0.33519	0.011000	0.18532	0.989000	0.31174	0.909000	0.44452	0.0759:0.2753:0.5068:0.1421	4.947	0.13343	954	0.10045	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	70.44	34	chr4	139704055	.	G	T	70.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=0.842;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,4:6:31:81,0,31	6	0	1	0
chr4	152943203	152943203	G	A	exonic	FHDC1	.	nonsynonymous SNV	FHDC1:NM_033393:exon1:c.G146A:p.C49Y,FHDC1:NM_001371116:exon2:c.G146A:p.C49Y	.	320	1146	47	9	0	65	0.0275774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	0.0016	0.00519169	0.0052	0.0004	0.0026	0	0.0002	0.0031	0.0092	0.0229	0.0045278	700	154602	rs144913043	0.0030	0.0030	0.0022	0.0038	0.0266	0.0029	0.0029	0.0232	0.0218	0.0004	0.0025	0.0049	0	0.0002	0.0266	0.0016	0.0042	0.0227	0.0023	0.0024	0.0019	0.0027	0.0216	0.0021	0.0020	0.0182	0.0169	0.0002	0	0.0036	0.0035	0	0	0.0274	0.0023	0.0053	0.0216	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.008757	0.01217	N	2.983030	1	0.08975	N	-1.87	0.00254	N	1.53	0.30401	T	0.76	0.01978	N	0.11	0.11054	-0.9921	0.32063	T	0.023	0.09696	T	10	0.0022506118	0.00033	T	.	.	.	0.010	0.01040	.	.	0.0920862733494	0.08535	0.15457957265891106	0.15378	0.196178703926	0.21972	0.452522158623	0.32288	T	0.001957	0.01365	T	-0.687484	0.00043	T	-0.74338	0.03750	T	0.0118901831796126	0.00185	T	0.285571	0.05082	T	0.021892782	0.00818	0.041451093	0.04714	0.021892782	0.00818	0.041451093	0.04714	-4.911	0.35858	T	.	.	0.061	0.01408	B	.;.	.;.	-1.399194	0.00361	0.007	0.15099306828571379	0.00357	0.00708	0.02999	N	AEFDBI	0.019336	0.00662	N	-1.87631002830649	0.00384	0.0165022	-1.97879846972427	0.00339	0.01498587	0.999999985020185	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.542086	0.14980	0	.	.	4.51	-9.02	0.00635	-1.940000	0.01634	-0.165000	0.11284	-0.102000	0.15922	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.1062:0.235:0.1374:0.5215	3.403	0.06904	870	0.31527	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019134	0.010101	0.017663	0.020468	0.000000	0.000000	0.018293	0.037879	0.1429	1308.24	34	chr4	152943203	.	G	A	1308.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.192;DP=304;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=0.967;SOR=0.693	GT:AD:DP:GQ:PL	0/1:1,2:3:32:40,0,32	5	0	2	0
chr4	168441441	168441441	C	A	exonic	DDX60L	.	nonsynonymous SNV	DDX60L:NM_001012967:exon10:c.G1190T:p.W397L,DDX60L:NM_001291510:exon10:c.G1190T:p.W397L,DDX60L:NM_001345927:exon10:c.G1190T:p.W397L,DDX60L:NM_001378072:exon11:c.G1190T:p.W397L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.0311882610805	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.003800	0.34487	U	0.000000	0.99708	0.22800	N	.	.	.	1.0	0.41392	T	-10.04	0.98852	D	0.514	0.56489	-0.8986	0.48135	T	0.220	0.58292	T	10	0.6287851	0.68396	D	0.031188	0.53330	D	0.232	0.53354	0.599	0.72984	0.186928172975	0.18263	0.44610837864715175	0.44528	0.218815070265	0.24419	0.601572573185	0.53126	T	0.118027	0.43854	T	-0.0665654	0.41873	T	-0.333393	0.41091	T	0.999473035335541	0.97549	D	0.854215	0.54045	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.831	0.79364	P	.;.;.;.	.;.;.;.	3.976758	0.58430	24.0	0.98613465913946485	0.43677	0.78638	0.38828	D	AEFDGBI	0.097115	0.19593	N	0.218101279107839	0.52077	3.384231	0.0408864351310531	0.41633	2.504571	0.999999715306788	0.74766	0.50712	0.20391	0	0.588066	0.40923	0	0.573888	0.23631	0	0.635259	0.50027	0	.	.	3.1	3.1	0.34780	3.674000	0.54333	4.126000	0.42002	0.454000	0.21428	1.000000	0.71638	1.000000	0.68203	0.777000	0.36790	0.0:1.0:0.0:0.0	9.976	0.40957	976	0.04745	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	31	chr4	168441441	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr4	169122191	169122191	C	T	exonic	SH3RF1	.	nonsynonymous SNV	SH3RF1:NM_020870:exon7:c.G1255A:p.A419T	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	.	.	0.00319489	0.0018	0.0002	9.686e-05	0.0001	0.0002	1.606e-05	0.0047	0.0127	0.0014748	228	154602	rs372228006	0.0007	0.0007	0.0004	0.0011	0.0116	0.0007	0.0007	0.0110	0.0108	8.965e-05	0	0	2.519e-05	3.745e-05	0.0005	9.893e-06	0.0010	0.0116	0.0003	0.0003	0.0002	0.0004	0.0083	0.0002	0.0002	0.0063	0.0056	0.0002	0	0	0	0.0002	0	0	0	0	0.0083	0.443	0.09182	T	0.673	0.06245	T	0.897	0.49385	P	0.103	0.30945	B	0.000653	0.42656	D	0.093210	1	0.08975	N	1.61	0.41143	L	2.61	0.13095	T	-0.37	0.13226	N	0.196	0.21580	-0.9461	0.41632	T	0.010	0.03492	T	10	0.005425155	0.00119	T	.	.	.	0.072	0.21020	.	.	0.115124310173	0.11017	0.315415711863468	0.31454	0.402715908631	0.41217	0.527263820171	0.42650	T	0.03709	0.24346	T	-0.546663	0.00305	T	-0.547632	0.17553	T	0.0152372593658534	0.00335	T	0.50365	0.15850	T	0.046122592	0.07667	0.056368798	0.10060	0.046122592	0.07667	0.056368798	0.10059	-4.801	0.34603	T	.	.	0.081	0.08224	B	.	.	1.231075	0.16258	12.42	0.95393564101089656	0.26834	0.23485	0.22091	N	AEFDBHCI	0.043801	0.06970	N	-0.909409013149414	0.10621	0.5084285	-0.999650044171079	0.09793	0.4893233	0.999999639185988	0.74766	0.656854	0.48797	0	0.546412	0.12157	0	0.67347	0.61138	0	0.635551	0.53088	0	.	.	3.15	1.39	0.21325	0.109000	0.15252	2.344000	0.32272	0.454000	0.21428	0.005000	0.17040	0.984000	0.30665	0.001000	0.02609	0.0:0.7261:0.0:0.2739	5.276	0.14963	831	0.39019	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002520	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.003817	0.07143	64.44	40	chr4	169122191	.	C	T	64.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.674;DP=217;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.05;ReadPosRankSum=-2.45;SOR=0.693	GT:AD:DP:GQ:PL	0/1:4,4:8:60:75,0,60	6	0	1	0
chr4	177442326	177442326	C	T	exonic	AGA	.	nonsynonymous SNV	AGA:NM_000027:exon1:c.G50A:p.C17Y,AGA:NM_001171988:exon1:c.G50A:p.C17Y	Aspartylglucosaminuria, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	0.139044394093	.	0.000199681	8.304e-06	0	0	0	0	0	0	6.059e-05	1.29e-05	2	154602	rs533283043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.564e-06	6.561e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.612050	0.10857	N	0.845777	1	0.08975	N	0.345	0.11182	N	-2.22	0.87038	D	-0.62	0.18248	N	0.184	0.19995	-0.9284	0.44371	T	0.381	0.73744	T	10	0.07464787	0.11438	T	0.139044	0.82152	D	0.317	0.63904	0.576	0.70087	0.483082108137	0.47938	0.559709139777735	0.55897	0.183099289915	0.20593	0.433502137661	0.29688	T	0.175431	0.52502	T	-0.116834	0.33641	T	-0.308747	0.43794	T	0.0787712729339749	0.09829	T	0.417558	0.11011	T	0.21838486	0.44345	0.33455136	0.59279	0.21838486	0.44344	0.33455136	0.59279	-4.403	0.29598	T	.	.	0.081	0.08129	B	.	.	0.448186	0.08180	4.918	0.77841072282068779	0.12045	0.09266	0.15057	N	ALL	0.112316	0.22205	N	-0.868311565976339	0.11602	0.5607885	-0.755523010554006	0.15586	0.8205031	0.999999999999986	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.67	5.67	0.87673	0.071000	0.14461	0.179000	0.15609	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	17.544	0.87752	966	0.07191	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr4	177442326	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr4	185459161	185459161	A	C	exonic	CCDC110	.	nonsynonymous SNV	CCDC110:NM_001145411:exon5:c.T1315G:p.Y439D,CCDC110:NM_152775:exon6:c.T1426G:p.Y476D	.	500	1020	1	1	0	3	0.00146843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	.	0.0022	0.00379393	0.0022	0.0004	0.0009	0	0.0005	0.0014	0.0022	0.0089	0.0021539	333	154602	rs34396844	0.0023	0.0024	0.0022	0.0025	0.0092	0.0023	0.0023	0.0086	0.0084	0.0002	0.0007	3.915e-05	0	0.0004	0.0025	0.0022	0.0026	0.0092	0.0017	0.0017	0.0017	0.0016	0.0099	0.0015	0.0015	0.0077	0.0069	0.0004	0.0340	0.0009	0	0	0.0003	0	0.0021	0.0014	0.0099	0.005	0.63226	D	0.19	0.31527	T	0.985	0.61118	D	0.859	0.61184	P	0.011273	0.29595	N	0.239717	0.989713	0.24262	N	2.33	0.66821	M	2.22	0.18875	T	-2.81	0.59389	D	0.652	0.66272	-1.0925	0.05128	T	0.060	0.25273	T	10	0.0075873733	0.00172	T	.	.	.	0.092	0.26621	.	.	0.305730143919	0.30178	0.18753886358063476	0.18671	0.497085312296	0.48199	0.536832928658	0.43999	T	0.054404	0.33226	T	-0.409203	0.02012	T	-0.353177	0.38842	T	0.0354245026902922	0.02880	T	0.726327	0.34071	T	0.20460619	0.42576	0.22461562	0.47380	0.20460619	0.42576	0.22461562	0.47378	-5.132	0.38242	T	.	.	0.277	0.54933	B	.;.;.	.;.;.	2.994961	0.39995	21.1	0.99084004268939263	0.52051	0.86472	0.45759	D	AEFDGI	0.188985	0.31625	N	0.246520957806076	0.53466	3.515413	0.189351568928819	0.49261	3.131562	0.999676281447928	0.41644	0.554377	0.28877	0	0.626922	0.53725	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.63	3.23	0.36150	1.807000	0.38540	4.106000	0.41892	0.756000	0.94297	0.884000	0.31069	0.997000	0.33255	0.999000	0.91618	0.8359:0.0:0.1641:0.0	8.027	0.29601	944	0.12746	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.1429	33.22	38	chr4	185459161	.	A	C	33.22	.	AC=2;AF=0.143;AN=14;DP=417;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr5	5461559	5461559	T	C	exonic	ICE1	.	nonsynonymous SNV	ICE1:NM_015325:exon13:c.T2225C:p.V742A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0109912354141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266	0.16251	T	0.531	0.10069	T	0.017	0.17573	B	0.011	0.15521	B	0.770852	0.09549	N	0.892392	1	0.08975	N	.	.	.	2.81	0.10975	T	-0.45	0.14782	N	0.096	0.07673	-0.9395	0.42695	T	0.014	0.05657	T	10	0.0847128	0.14227	T	0.010991	0.28145	T	0.062	0.17934	0.651	0.78858	0.043077524339	0.03247	0.19026260894506358	0.18944	0.132510371965	0.14936	0.323814511299	0.13998	T	0.021413	0.16677	T	-0.297665	0.08882	T	-0.665351	0.07909	T	0.0275262782435809	0.01619	T	0.485951	0.14839	T	0.027933924	0.02056	0.036735874	0.03182	0.027933924	0.02056	0.036735874	0.03181	-2.984	0.10010	T	.	.	0.217	0.44707	B	.	.	1.955360	0.24836	16.54	0.98922304299034935	0.48583	0.01782	0.05581	N	AEFBI	0.019445	0.00675	N	-1.02704974951901	0.08045	0.3758649	-1.00955012271889	0.09574	0.4771235	0.986092906754032	0.31003	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.26	-1.7	0.07721	-0.123000	0.10586	0.149000	0.15269	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.888000	0.42677	0.0:0.3049:0.3516:0.3435	4.399	0.10805	768	0.49510	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	138.44	44	chr5	5461559	.	T	C	138.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.852;DP=408;ExcessHet=0;FS=2.463;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=2.07;SOR=1.206	GT:AD:DP:GQ:PL	0/1:5,6:11:99:149,0,107	6	0	1	0
chr5	13876722	13876722	C	T	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon22:c.G3358A:p.V1120I	Ciliary dyskinesia, primary, 3, with or without situs inversus	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.0285693602386	.	.	8.249e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs758841490	5.473e-06	5.472e-06	1.362e-06	9.627e-06	8.116e-05	2.36e-06	1.7e-06	3.765e-05	2.662e-05	0	0	0	0	0	0	0	1.656e-05	8.116e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.29688	T	.	.	.	0.01	0.15535	B	0.015	0.17295	B	0.000727	0.42129	D	0.199560	0.994508	0.42307	D	2.15	0.60148	M	1.87	0.24085	T	-0.47	0.15178	N	0.195	0.21449	-1.0856	0.06298	T	0.069	0.28247	T	10	0.19344625	0.35115	T	0.028569	0.51224	D	0.087	0.25287	0.27	0.21893	0.51058355623	0.50700	0.20496601129671008	0.20413	0.0981397712825	0.11081	0.466433048248	0.34192	T	0.043951	0.26664	T	-0.23869	0.15516	T	-0.39911	0.33488	T	0.307748377323151	0.25322	T	0.914909	0.69682	D	0.074753076	0.16798	0.07302635	0.15823	0.074753076	0.16797	0.07302635	0.15822	-4.214	0.26954	T	0.1433567141336541	0.16289	0.086	0.10449	B	.	.	2.925517	0.38847	20.8	0.98932223258194663	0.48769	0.91597	0.53861	D	AEFBI	0.299095	0.40824	N	-0.202573637995132	0.33028	1.869269	-0.0536842799716874	0.37331	2.184356	0.0335190476950111	0.14110	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.6	4.74	0.59717	2.179000	0.42157	7.498000	0.59452	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.999000	0.91618	0.0:0.8591:0.0:0.1409	11.845	0.51652	752	0.51611	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr5	13876722	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=205;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr5	16477662	16477662	C	A	exonic	RETREG1	.	nonsynonymous SNV	RETREG1:NM_019000:exon6:c.G577T:p.D193Y,RETREG1:NM_001034850:exon8:c.G1000T:p.D334Y	Neuropathy, hereditary sensory and autonomic, type IIB, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.470	0.061796528352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.02	0.65192	T	-7.4	0.94758	D	0.867	0.86404	-0.1857	0.78037	T	0.475	0.79872	T	9	0.81348807	0.80610	D	0.061797	0.68446	D	0.470	0.76421	0.308	0.27967	0.927311294786	0.92656	0.5296570243994914	0.52889	1.20030349719	0.80521	0.666061460972	0.62276	T	0.450076	0.79133	T	0.353838	0.86774	D	0.270487	0.86601	D	0.998696029186249	0.94887	D	0.937806	0.76632	D	0.8497746	0.87318	0.9110323	0.95762	0.8497746	0.87320	0.9110323	0.95762	-5.174	0.41690	T	.	.	0.496	0.66820	A	.;.	.;.	6.723522	0.95644	35	0.99564570070840996	0.72014	0.96291	0.68423	D	AEFGHCI	0.939555	0.94031	D	0.900355636977442	0.91775	11.05884	0.887299846225773	0.94993	13.21895	0.999999999999999	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	6.02	6.02	0.97559	7.233000	0.77589	7.715000	0.67011	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	20.547	0.99281	649	0.63102	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1429	33.22	35	chr5	16477662	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr5	35705792	35705792	A	-	exonic	SPEF2	.	frameshift deletion	SPEF2:NM_024867:exon18:c.2649delA:p.K886Rfs*8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0120	.	0.0046	0.0030	0.0038	0.0026	0.0021	0.0055	0.0045	0.0050	.	.	.	rs750890082	0.0008	0.0068	0.0008	0.0008	0.0025	0.0008	0.0008	0.0020	0.0018	0.0011	0.0025	0.0012	0.0010	0.0006	0.0002	0.0007	0.0010	0.0014	0	7.326e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	37.4	33	chr5	35705791	.	CA	C	37.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.383;DP=203;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=1.38;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:46:48,0,46	6	0	1	0
chr5	40774942	40774942	C	A	exonic	PRKAA1	.	nonsynonymous SNV	PRKAA1:NM_206907:exon4:c.G394T:p.G132C	.	436	1085	1	0	0	1	0.000460617	.	.	.	3378139	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.344	0.465071154344	.	0.000199681	0.0001	0.0001	0	0	0	0.0002	0	0	0.00011	17	154602	rs201703990	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	0.0001	9.36e-05	8.763e-05	0.0002	2.251e-05	0.0019	0	0	0.0003	0.0001	0.0004	2.333e-05	0.0001	0.0001	0.0001	0.0002	7.351e-05	8.661e-05	7.253e-05	2.847e-05	1.858e-05	4.812e-05	0	0	0.0035	0	0	0	7.351e-05	0.0005	0	0.015	0.52492	D	0.024	0.56640	D	0.88	0.48402	P	0.678	0.53406	P	0.428255	0.12781	N	0.713752	1	0.81001	D	.	.	.	-0.88	0.74689	T	-0.1	0.08495	N	0.503	0.53532	-0.2538	0.76257	T	0.428	0.77094	T	9	0.15928036	0.29931	T	0.465071	0.94581	D	0.344	0.66582	.	.	0.604137120487	0.60097	0.5877501195119226	0.58705	0.74945927493	0.63696	0.465394496918	0.34049	T	.	.	.	-0.194769	0.21561	T	-0.28088	0.46715	T	0.237412884831429	0.22300	T	0.510849	0.16306	T	.	.	.	.	.	.	.	.	-5.111	0.38023	T	.	.	0.092	0.13783	B	.	.	2.713390	0.35474	19.91	0.98721752399731488	0.45215	0.65359	0.32711	D	AEFBCI	0.160516	0.28646	N	0.29736300350117	0.56014	3.765682	0.284117246104348	0.54611	3.625656	0.99999981029218	0.74766	0.656854	0.48797	0	0.69481	0.67340	0	0.670488	0.60580	0	0.636168	0.56350	0	.	.	4.5	3.63	0.40741	1.947000	0.39919	3.554000	0.39061	0.549000	0.26987	0.983000	0.35670	1.000000	0.68203	0.993000	0.69303	0.0:0.8922:0.0:0.1078	8.267	0.30979	357	0.85079	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.1429	33.22	33	chr5	40774942	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=197;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr5	79044510	79044510	T	C	exonic	DMGDH	.	nonsynonymous SNV	DMGDH:NM_013391:exon6:c.A788G:p.H263R	Dimethylglycine dehydrogenase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.620	0.0499483824762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.26300	T	0.228	0.25286	T	0.648	0.40583	P	0.172	0.35394	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.175	0.60977	M	-1.44	0.80815	T	-1.42	0.34992	N	0.804	0.79986	-0.1303	0.79394	T	0.367	0.72712	T	10	0.64481616	0.69264	D	0.049948	0.64031	D	0.620	0.85249	0.601	0.73226	0.827341243144	0.82571	0.8269855015519543	0.82656	0.611311684803	0.55774	0.558233141899	0.47018	T	0.028244	0.20504	T	0.334612	0.85475	D	0.24287	0.85283	D	0.968468606472015	0.68253	D	0.921908	0.71628	D	0.86606336	0.88552	0.6559207	0.79854	0.86606336	0.88554	0.6559207	0.79855	-8.651	0.65424	D	0.4151006917709649	0.50477	0.852	0.79850	P	.;.	.;.	3.747857	0.53700	23.4	0.99775390252736462	0.86260	0.99126	0.91608	D	AEFBI	0.956026	0.97429	D	0.228138784264105	0.52565	3.430038	0.367314525288217	0.59556	4.134629	0.999998532021457	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	7.857000	0.85305	7.860000	0.71395	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.569	0.76062	624	0.65661	FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	95.79	45	chr5	79044510	.	T	C	95.79	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.253;DP=388;ExcessHet=0.3476;FS=37.345;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=2;SOR=5.384	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,3:5:49:0|1:79044510_T_C:81,0,49:79044510	4	0	2	1
chr5	79044511	79044511	G	A	exonic	DMGDH	.	nonsynonymous SNV	DMGDH:NM_013391:exon6:c.C787T:p.H263Y	Dimethylglycine dehydrogenase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.0145784045067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.341	0.12673	T	0.614	0.07592	T	0.029	0.19866	B	0.006	0.12133	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.485	0.37223	L	-1.46	0.80983	T	0.46	0.03297	N	0.795	0.79118	-0.6303	0.63558	T	0.309	0.67931	T	10	0.5324558	0.63261	D	0.014578	0.34790	T	0.393	0.70844	0.467	0.53891	0.782547463411	0.78053	0.768997685997995	0.76848	0.195931964383	0.21951	0.557169079781	0.46868	T	0.017325	0.14153	T	0.221509	0.75918	D	0.0804058	0.75605	D	0.845702707767487	0.49799	D	0.930507	0.74278	D	0.7260823	0.79502	0.4871424	0.70320	0.7260823	0.79504	0.4871424	0.70320	-2.736	0.07610	T	0.3277913666749117	0.42589	0.213	0.44188	B	.;.	.;.	3.944933	0.57750	23.9	0.99348841113542719	0.60493	0.99470	0.96426	D	AEFBI	0.952969	0.96887	D	0.0628041216277017	0.44734	2.742053	0.2805814258811	0.54406	3.605736	0.999999999489839	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	9.792000	0.98216	11.788000	0.96293	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.355	0.94400	624	0.65661	FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	70.44	43	chr5	79044511	.	G	A	70.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.253;DP=330;ExcessHet=0;FS=3.979;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=-1.036;SOR=2.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,3:5:49:0|1:79044510_T_C:81,0,49:79044510	6	0	1	0
chr5	95653159	95653159	T	A	exonic	RFESD	.	nonsynonymous SNV	RFESD:NM_001131065:exon3:c.T103A:p.L35M,RFESD:NM_001131066:exon3:c.T103A:p.L35M	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00200198209018	.	0.000599042	0.0009	0	0	0	0	0	0	0.0023	0.0001358	21	154602	rs572693940	0.0001	0.0001	6.768e-05	0.0002	0.0024	0.0001	0.0001	0.0021	0.0020	3.165e-05	0	0	0	0	0	0	0.0002	0.0024	0.0001	0.0001	2.569e-05	0.0002	0.0031	6.503e-05	5.316e-05	0.0019	0.0015	2.404e-05	0	0	0	0	0	0	0	0	0.0031	0.094	0.31383	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.999969	0.52935	D	.	.	.	.	.	.	-0.17	0.09627	N	0.303	0.34336	-0.9201	0.45540	T	0.172	0.51357	T	5	0.008929074	0.00202	T	0.002002	0.03615	T	0.029	0.06676	0.559	0.67821	0.0138822411134	0.00435	0.2837769116653965	0.28290	0.380424953849	0.39413	0.37453764677	0.21481	T	.	.	.	-0.54951	0.00294	T	-0.567967	0.15637	T	0.0878605133879384	0.10962	T	0.319968	0.06445	T	.	.	.	.	.	.	.	.	-5.596	0.42755	T	.	.	0.111	0.21390	B	.;.	.;.	1.873253	0.23796	16.15	0.96200159256055195	0.29019	0.07149	0.13175	N	AEFDBI	0.067915	0.13374	N	-0.466882266418571	0.23171	1.242463	-0.625508002617306	0.18838	1.008143	0.981015425864052	0.30207	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	1.11	-0.246	0.12380	0.314000	0.19182	0.563000	0.19530	0.366000	0.20181	0.571000	0.27513	0.032000	0.21310	0.719000	0.34739	0.0:0.0:0.3988:0.6012	3.813	0.08319	623	0.65786	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002646	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.024390	0.07143	50.44	34	chr5	95653159	.	T	A	50.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=209;ExcessHet=0;FS=3.31;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.41;ReadPosRankSum=0;SOR=2.303	GT:AD:DP:GQ:PL	0/1:4,2:6:61:61,0,115	6	0	1	0
chr5	119634554	119634554	G	T	exonic	FAM170A	.	nonsynonymous SNV	FAM170A:NM_001163991:exon2:c.G665T:p.G222V,FAM170A:NM_001367956:exon3:c.G806T:p.G269V,FAM170A:NM_182761:exon3:c.G806T:p.G269V	.	398	1120	4	0	0	4	0.00178253	.	.	.	2399291	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.055	0.0143242388326	0.0006	.	0.0004	0	0.0002	0	0	0.0006	0.0011	0	0.0003622	56	154602	rs200846075	0.0003	0.0003	0.0003	0.0003	0.0061	0.0003	0.0003	0.0045	0.0039	0.0001	0.0002	0	0	1.873e-05	0.0061	0.0004	0.0004	0.0002	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	4.812e-05	0	0.0004	0	0	0	0.0034	0.0005	0.0005	0.0002	0.017	0.51248	D	0.136	0.34241	T	0.987	0.61912	D	0.876	0.62173	P	0.003004	0.35573	N	0.130252	0.999987	0.18198	N	2.39	0.68882	M	1.46	0.32238	T	-2.21	0.49684	N	0.308	0.36569	-1.0377	0.18016	T	0.127	0.43360	T	9	0.07810691	0.12410	T	0.014324	0.34357	T	0.055	0.15663	.	.	0.126345400529	0.12197	0.04272427637551771	0.04217	.	.	0.303412616253	0.10911	T	0.057828	0.30676	T	-0.428352	0.01517	T	-0.49339	0.23035	T	0.0876401279147409	0.10935	T	0.642236	0.25428	T	0.108148225	0.25573	0.1455311	0.34512	0.108148225	0.25572	0.1455311	0.34511	-6.566	0.51274	T	.	.	0.225	0.45702	B	.;.;.	.;.;.	2.762605	0.36239	20.2	0.98884870665645419	0.47895	0.19621	0.20731	N	AEFBI	0.076896	0.15480	N	-0.126300813603889	0.36250	2.09279	-0.336730607369205	0.26922	1.490403	0.029653014351895	0.13899	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.45	2.67	0.30756	1.434000	0.34567	1.529000	0.27146	0.672000	0.70159	0.034000	0.20669	0.742000	0.26489	0.142000	0.20019	0.2022:0.0:0.7978:0.0	7.087	0.24444	950	0.11238	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008089	0.000000	0.010870	0.023952	0.000000	0.000000	0.000000	0.000000	0.1429	71.0	39	chr5	119634554	.	G	T	71.0	.	AC=2;AF=0.143;AN=14;DP=228;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=23.67;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,3:3:9:89,9,0	6	1	0	0
chr5	129904990	129904990	-	C	exonic	CHSY3	.	frameshift insertion	CHSY3:NM_175856:exon1:c.162dupC:p.R56Pfs*64	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	44.4	33	chr5	129904990	.	G	GC	44.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.967;DP=202;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:23:55,0,23	6	0	1	0
chr5	131492752	131492752	C	T	exonic	RAPGEF6	.	nonsynonymous SNV	RAPGEF6:NM_001164386:exon14:c.G1561A:p.A521T,RAPGEF6:NM_001164387:exon14:c.G1561A:p.A521T,RAPGEF6:NM_001164388:exon14:c.G1561A:p.A521T,RAPGEF6:NM_001164389:exon14:c.G1561A:p.A521T,RAPGEF6:NM_001164390:exon14:c.G1561A:p.A521T,RAPGEF6:NM_016340:exon14:c.G1561A:p.A521T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.458	0.0579681217695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.004	0.92824	D	0.999	0.90584	D	0.99	0.92359	D	0.000000	0.84330	D	0.000000	0.995913	0.81001	D	2.885	0.83555	M	1.59	0.28836	T	-3.19	0.67014	D	0.778	0.85132	-0.5477	0.66874	T	0.263	0.63416	T	10	0.7034554	0.72589	D	0.057968	0.67152	D	0.458	0.75619	0.371	0.38176	0.422413330959	0.41862	0.7088579397436269	0.70827	0.682033757252	0.60087	0.828315854073	0.86305	D	0.66066	0.89812	D	0.141879	0.68503	D	-0.0339768	0.68104	D	0.997034907341003	0.90620	D	0.996	0.98649	D	0.54112136	0.69459	0.6333109	0.78601	0.54112136	0.69460	0.6333109	0.78601	-10.768	0.78499	D	.	.	0.977	0.92429	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.545719	0.71494	25.7	0.99945315357113806	0.99886	0.98539	0.83865	D	AEFBI	0.847699	0.76455	D	0.952192538840127	0.94072	12.48125	0.927054237821452	0.96647	14.95987	1.0	0.98316	0.651	0.46895	0	0.615513	0.52658	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	6.04	6.04	0.98025	7.568000	0.81546	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	20.595	0.99442	387	0.83408	Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal;.;.;.;Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr5	131492752	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=194;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr5	141302968	141302968	C	T	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G898A:p.A300T	.	78	1437	7	0	0	7	0.00242971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	.	.	0.00119808	0.0014	0	0.0003	0.0001	0	0.0001	0.0023	0.0117	0.0011837	183	154602	rs562162894	0.0007	0.0007	0.0003	0.0010	0.0090	0.0006	0.0006	0.0085	0.0083	2.99e-05	0.0002	0	2.519e-05	0	0.0044	9.814e-05	0.0006	0.0090	0.0004	0.0004	0.0002	0.0006	0.0095	0.0003	0.0003	0.0073	0.0066	0	0	0	0	0	0	0	0.0001	0	0.0095	0.096	0.31088	T	0.255	0.23365	T	0.009	0.15093	B	0.004	0.10090	B	0.983261	0.08079	U	0.990323	0.998527	0.22098	N	1.1	0.28011	L	-1.28	0.79376	T	-0.34	0.12661	N	0.063	0.03502	-0.8825	0.49561	T	0.273	0.64422	T	10	0.0041900277	0.00083	T	.	.	.	0.095	0.27398	0.292	0.25400	0.580153967196	0.57686	0.30213670269049936	0.30126	0.177704553692	0.19995	0.336140066385	0.15860	T	0.151168	0.49098	T	-0.437778	0.01333	T	-0.394933	0.33976	T	0.00890504629330068	0.00111	T	0.227477	0.03026	T	0.049138263	0.08677	0.07460501	0.16339	0.049138263	0.08676	0.07460501	0.16339	-3.459	0.15863	T	.	.	0.068	0.02927	B	.	.	2.493592	0.32177	18.96	0.95469865600468728	0.27016	0.19991	0.20873	N	AEFBI	0.085637	0.17362	N	-0.799127435041364	0.13333	0.6560655	-0.764685468846174	0.15362	0.8075529	0.0041845926403666	0.10449	0.554377	0.28877	0	0.573888	0.26702	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	3.79	1.93	0.24985	-0.237000	0.09007	.	.	0.596000	0.33519	0.051000	0.21449	0.519000	0.25298	0.763000	0.36255	0.0:0.7184:0.1784:0.1032	6.977	0.23859	511	0.75131	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.015152	0.07143	91.44	33	chr5	141302968	.	C	T	91.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.847;DP=233;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=-0.02;SOR=1.179	GT:AD:DP:GQ:PL	0/1:5,4:9:99:102,0,149	6	0	1	0
chr5	141376131	141376131	A	T	exonic	PCDHGA6	.	nonsynonymous SNV	PCDHGA6:NM_018919:exon1:c.A2048T:p.K683I,PCDHGA6:NM_032086:exon1:c.A2048T:p.K683I	.	10	1490	21	1	0	23	0.00765901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00832386618182	0.0005	0.000798722	0.0011	0	0.0002	0.0001	0	0.0010	0.0077	0.0036	0.0002305	6	26028	rs200974904	0.0007	0.0007	0.0005	0.0009	0.0043	0.0007	0.0006	0.0040	0.0038	5.974e-05	0.0003	0.0038	0	3.746e-05	0.0042	0.0004	0.0008	0.0043	0.0006	0.0006	0.0006	0.0006	0.0042	0.0005	0.0005	0.0028	0.0023	0.0002	0	0.0002	0.0037	0	0.0002	0	0.0007	0.0014	0.0042	0.026	0.46910	D	0.057	0.48855	T	0.001	0.07471	B	0.002	0.08700	B	0.011042	0.01294	U	124.094000	1	0.08975	N	1.7	0.43825	L	0.85	0.47130	T	-2.17	0.49018	N	0.154	0.15888	-0.9923	0.32012	T	0.099	0.36856	T	10	0.0049674213	0.00106	T	0.008324	0.22029	T	0.076	0.22200	.	.	0.403469152278	0.39964	0.40605075292717796	0.40521	0.497233381256	0.48218	.	.	.	0.024001	0.18216	T	-0.573334	0.00211	T	-0.596851	0.13078	T	0.0241655156286951	0.01165	T	0.00369963	0.00011	T	0.09958714	0.23503	0.07163517	0.15362	0.09958714	0.23503	0.07163517	0.15362	-4.78	0.34357	T	.	.	0.094	0.22171	B	.;.	.;.	1.317506	0.17209	13.03	0.90095604993644596	0.19378	0.31179	0.24272	N	AEFBI	0.205207	0.33158	N	-1.2587614243323	0.04185	0.1884187	-1.3332897931725	0.04006	0.1881079	0.0774375007757012	0.15759	0.549168	0.22868	0	0.588015	0.36545	0	0.576033	0.28219	0	0.616125	0.45549	0	.	.	5.55	-4.13	0.03639	-0.521000	0.06331	.	.	-0.709000	0.03961	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5156:0.1226:0.2037:0.1581	2.247	0.03787	651	0.62880	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004757	0.000000	0.001359	0.012295	0.000000	0.000000	0.006098	0.011364	0.07143	122.44	45	chr5	141376131	.	A	T	122.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.11;DP=230;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=50.91;MQRankSum=-0.016;QD=10.2;ReadPosRankSum=-0.393;SOR=0.883	GT:AD:DP:GQ:PL	0/1:7,5:12:99:133,0,154	6	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	.	.	.	.	.	.	.	.	0.3571	684.11	39	chr5	141400463	.	A	G	684.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-6.424;DP=1058;ExcessHet=4.7409;FS=235.068;MLEAC=5;MLEAF=0.357;MQ=59.99;MQRankSum=0;QD=0.72;ReadPosRankSum=1.47;SOR=9.773	GT:AD:DP:GQ:PL	0/1:8,3:11:38:38,0,151	2	0	5	0
chr5	141878225	141878225	G	T	exonic	PCDH1	.	nonsynonymous SNV	PCDH1:NM_002587:exon1:c.C38A:p.A13E,PCDH1:NM_032420:exon1:c.C38A:p.A13E	.	.	.	.	.	.	.	.	0.7236	0.588	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.803358931394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.63226	D	0.0	0.92824	D	0.978	0.58756	D	0.858	0.61127	P	.	.	.	.	0.94568	0.26654	N	0	0.06538	N	0.66	0.54540	T	0.03	0.06612	N	0.443	0.48134	-1.0220	0.23063	T	0.125	0.43008	T	9	0.35353094	0.52157	T	0.803359	0.98463	D	0.199	0.48268	0.276	0.22845	0.54265040602	0.53918	0.5416864636762939	0.54093	1.27300519965	0.82327	0.782763957977	0.79345	T	0.007524	0.13750	T	0.0004584	0.51716	T	-0.237118	0.51080	T	0.662200439416677	0.38992	D	0.535646	0.18153	T	0.24561118	0.47521	0.2605922	0.51824	0.24561118	0.47521	0.2605922	0.51823	-4.087	0.25098	T	.	.	0.1	0.42976	B	.;.;.	.;.;.	3.759067	0.53924	23.4	0.98505048356460678	0.42264	0.65484	0.32753	D	ALL	0.321832	0.42451	N	0.0942518768539899	0.46195	2.863621	0.148955816477266	0.47087	2.944237	0.999999999999943	0.74766	0.733237	0.96898	0	0.596491	0.49125	0	0.52208	0.10781	0	0.621717	0.48901	0	.	.	4.35	4.35	0.51454	2.334000	0.43579	.	.	0.560000	0.28382	0.139000	0.23489	1.000000	0.68203	0.083000	0.17415	0.0:0.0:1.0:0.0	12.236	0.53827	911	0.21964	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.61	6	chr5	141878225	.	G	T	33.61	.	AC=2;AF=0.143;AN=14;DP=33;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.81;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr5	152392501	152392501	C	A	exonic	NMUR2	.	nonsynonymous SNV	NMUR2:NM_020167:exon4:c.G938T:p.G313V	.	.	.	.	.	.	.	.	0.9923	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.872e-07	6.841e-07	1.366e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.664e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.979	0.74454	D	0.000001	0.84330	D	0.000000	1	0.81001	D	1.9	0.50570	L	1.36	0.34452	T	-7.97	0.96368	D	0.869	0.86618	-0.7252	0.59205	T	0.201	0.55737	T	10	0.84745216	0.83914	D	0.040686	0.59514	D	0.345	0.66676	0.574	0.69826	0.410337123052	0.40646	0.6195414614587442	0.61887	0.707067738463	0.61477	0.715063929558	0.69327	T	0.28945	0.66224	T	0.0752271	0.61478	D	-0.129718	0.60996	T	0.99784255027771	0.92564	D	0.974303	0.90829	D	0.92667156	0.93905	0.8930364	0.94482	0.92667156	0.93905	0.8930364	0.94482	-13.927	0.92817	D	.	.	0.772	0.76032	P	.	.	4.753433	0.76773	26.6	0.99702560651610539	0.80729	0.96361	0.68762	D	AEFBI	0.830350	0.74908	D	0.497526866182037	0.66944	5.016372	0.409128381539435	0.62132	4.424	0.00218939012057454	0.09217	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.01	4.14	0.47821	4.071000	0.57275	3.771000	0.39754	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.733000	0.35199	0.0:0.9164:0.0:0.0836	12.220	0.53743	907	0.22727	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	35	chr5	152392501	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr5	156759229	156759229	G	A	exonic	SGCD	.	nonsynonymous SNV	SGCD:NM_001128209:exon8:c.G709A:p.A237T,SGCD:NM_000337:exon9:c.G712A:p.A238T	Cardiomyopathy, dilated, 1L;Muscular dystrophy, limb-girdle, type 2F, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	981495	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.732	0.147204455099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.046	0.49120	D	0.474	0.41077	P	0.222	0.40655	B	0.000000	0.84330	D	0.052490	0.999999	0.58761	D	2.01	0.54746	M	-4.06	0.96529	D	-2.59	0.55821	D	0.443	0.57690	0.753	0.93833	D	0.846	0.94857	D	10	0.8787819	0.87180	D	0.147204	0.82924	D	0.732	0.90633	0.863	0.95940	0.984057702845	0.98388	0.6936249309485905	0.69302	0.234433461644	0.25982	0.436582475901	0.30110	T	0.832488	0.96015	D	0.296553	0.82690	D	0.188201	0.82467	D	0.978514015674591	0.72364	D	0.90421	0.66396	D	0.37676	0.59081	0.3372995	0.59522	0.37676	0.59081	0.3372995	0.59521	-0.502	0.00584	T	0.2632546087307279	0.35518	0.275	0.52351	B	.;.	.;.	4.299641	0.65634	24.9	0.99916362686474358	0.98449	0.96634	0.70130	D	AEFBI	0.898626	0.84212	D	0.401311119462377	0.61494	4.351364	0.471736583257145	0.66124	4.911409	0.999094674514436	0.38425	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.93	4.93	0.64394	7.224000	0.77527	11.891000	0.99093	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.8427:0.1573	14.373	0.66416	534	0.73357	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr5	156759229	.	G	A	33.22	.	AC=2;AF=0.143;AN=14;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr5	160407769	160407769	-	T	exonic	SLU7	.	frameshift insertion	SLU7:NM_001364517:exon10:c.1006dupA:p.T336Nfs*16,SLU7:NM_001364518:exon10:c.961dupA:p.T321Nfs*16,SLU7:NM_001364522:exon10:c.991dupA:p.T331Nfs*16,SLU7:NM_006425:exon10:c.961dupA:p.T321Nfs*16,SLU7:NM_001364520:exon11:c.961dupA:p.T321Nfs*16,SLU7:NM_001364521:exon11:c.961dupA:p.T321Nfs*16,SLU7:NM_001364523:exon11:c.991dupA:p.T331Nfs*16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	6.841e-07	0	1.376e-06	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	203.21	34	chr5	160407769	.	G	GT	203.21	.	AC=2;AF=0.143;AN=14;DP=210;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=33.87;SOR=1.329	GT:AD:DP:GQ:PL	1/1:0,6:6:18:224,18,0	6	1	0	0
chr5	160634479	160634479	T	G	exonic	ATP10B	.	nonsynonymous SNV	ATP10B:NM_001366658:exon7:c.A1172C:p.N391T,ATP10B:NM_001366654:exon10:c.A1388C:p.N463T,ATP10B:NM_001366652:exon11:c.A1256C:p.N419T,ATP10B:NM_001366653:exon11:c.A1256C:p.N419T,ATP10B:NM_001366655:exon11:c.A1256C:p.N419T,ATP10B:NM_001366656:exon11:c.A1256C:p.N419T,ATP10B:NM_001366657:exon11:c.A1220C:p.N407T,ATP10B:NM_025153:exon12:c.A1256C:p.N419T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.0224923115898	.	.	.	.	.	.	.	.	.	.	.	.	.	rs751401103	1.026e-05	1.026e-05	8.167e-06	1.238e-05	0.0023	6.16e-06	4.89e-06	0.0013	0.0011	0	0	0	0	0	0.0023	0	3.311e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.50132	D	0.023	0.57104	D	0.635	0.40310	P	0.116	0.31939	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.385	0.34509	L	-0.07	0.63738	T	-5.31	0.84457	D	0.378	0.41952	-0.3546	0.73421	T	0.366	0.72613	T	9	0.5299416	0.63125	D	0.022492	0.45384	T	0.332	0.65424	0.433	0.48336	0.821825675267	0.82014	0.8080106135015133	0.80756	0.262087392394	0.28775	0.739262580872	0.72864	T	0.057393	0.30554	T	-0.0179755	0.49142	T	-0.263597	0.48464	T	0.97264963388443	0.69779	D	0.941006	0.77964	D	0.5250443	0.68548	0.45804358	0.68508	0.5250443	0.68549	0.45804358	0.68508	-10.762	0.78337	D	.	.	0.327	0.54982	B	.;.;.	.;.;.	3.683176	0.52433	23.2	0.98524617339420761	0.42508	0.96217	0.68073	D	AEFI	0.854748	0.77179	D	0.503886604515248	0.67318	5.065845	0.506357456936277	0.68416	5.217151	0.774294780563418	0.23726	0.500041	0.20204	0	0.573888	0.26702	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	5.53	5.53	0.82530	6.214000	0.72143	7.803000	0.69204	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:0.0:0.1431:0.8569	12.087	0.53005	858	0.34001	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.07143	126.44	36	chr5	160634479	.	T	G	126.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.25;DP=235;ExcessHet=0;FS=1.987;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.9;ReadPosRankSum=-1.465;SOR=1.329	GT:AD:DP:GQ:PL	0/1:10,6:16:99:137,0,265	6	0	1	0
chr5	170718860	170718860	T	C	exonic	KCNIP1	.	nonsynonymous SNV	KCNIP1:NM_001034838:exon2:c.T191C:p.V64A,KCNIP1:NM_001278339:exon2:c.T164C:p.V55A,KCNIP1:NM_014592:exon2:c.T164C:p.V55A,KCNIP1:NM_001034837:exon3:c.T197C:p.V66A,KCNIP1:NM_001278340:exon3:c.T80C:p.V27A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0109229117637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.32453	T	0.805	0.04652	T	0.003	0.11197	B	0.001	0.04355	B	0.000319	0.45977	D	0.224355	0.999998	0.58761	D	1.52	0.38360	L	2.03	0.20959	T	-2.12	0.48184	N	0.646	0.65758	-1.0881	0.05856	T	0.043	0.18326	T	9	0.24987778	0.42306	T	0.010923	0.28000	T	0.047	0.12962	0.333	0.32005	0.509346181843	0.50574	0.4929283121534364	0.49213	1.31644505472	0.83334	0.649020195007	0.59847	T	0.069783	0.33796	T	-0.11676	0.33653	T	-0.405494	0.32747	T	0.923697412014008	0.58448	D	0.754824	0.38317	T	0.36316597	0.58076	0.28125048	0.54105	0.36316597	0.58076	0.28125048	0.54104	-3.912	0.46563	T	.	.	0.655	0.71888	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.131586	0.61826	24.4	0.98728706944515099	0.45318	0.91619	0.53907	D	AEFDBI	0.653960	0.62681	D	-0.0267853319418758	0.40646	2.417329	0.170571629451474	0.48242	3.042815	0.99900038174788	0.38186	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.59	5.59	0.84677	6.255000	0.72423	5.086000	0.47311	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	13.713	0.62156	603	0.67726	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	30.59	34	chr5	170718860	.	T	C	30.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.967;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:1:41,0,1	6	0	1	0
chr6	1611914	1611914	C	A	exonic	FOXC1	.	nonsynonymous SNV	FOXC1:NM_001453:exon1:c.C1469A:p.A490E	Anterior segment dysgenesis 3, multiple subtypes, Autosomal dominant;Axenfeld-Rieger syndrome, type 3, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.98358284645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.139e-07	6.844e-07	1.409e-06	0	2.775e-05	0	0	.	.	0	0	0	2.775e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.24564	T	0.143	0.33219	T	0.918	0.50838	P	0.433	0.45477	B	0.405390	0.13068	U	0.637592	0.982725	0.24941	N	0.69	0.16971	N	-3.08	0.92560	D	-1.11	0.28703	N	0.397	0.43803	-0.5339	0.67394	T	0.422	0.76677	T	10	0.32343423	0.49680	T	0.983583	0.99920	D	0.262	0.57482	0.377	0.39156	0.954469965546	0.95398	0.38033523269867137	0.37948	.	.	0.889513015747	0.95200	D	0.340527	0.70953	T	0.0447933	0.57671	T	-0.173434	0.57128	T	0.822547078132629	0.47962	D	0.483352	0.14674	T	0.19998324	0.41957	0.27524704	0.53460	0.19998324	0.41957	0.27524704	0.53459	-10.722	0.78111	D	.	.	0.530	0.65903	A	.;.	.;.	3.785177	0.54452	23.5	0.99211160474763704	0.55594	0.64423	0.32402	D	AEFDBHCIJ	0.105881	0.21142	N	-0.106087176274754	0.37127	2.155617	-0.107478813477791	0.35087	2.025861	0.999996476713582	0.74766	0.495885	0.18260	0	0.491552	0.07993	0	0.616487	0.41570	0	0.621717	0.48901	0	.	.	3.25	2.37	0.28337	0.309000	0.19094	7.421000	0.58716	0.446000	0.21189	0.040000	0.20979	1.000000	0.68203	0.900000	0.43643	0.0:0.8003:0.1997:0.0	10.395	0.43380	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	.	.	.	.	.	.	.	.	0.1429	33.22	36	chr6	1611914	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr6	12120516	12120516	A	G	exonic	HIVEP1	.	nonsynonymous SNV	HIVEP1:NM_002114:exon4:c.A721G:p.M241V	.	.	.	.	.	.	.	.	.	.	.	3270439	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.012	0.00341156025232	8.3e-05	.	0.0003	0	8.64e-05	0	0	0.0001	0	0.0014	0.0002264	35	154602	rs367639862	0.0003	0.0003	0.0002	0.0004	0.0021	0.0003	0.0003	0.0018	0.0017	8.961e-05	0.0001	0	0	0	0.0002	0.0002	0.0001	0.0021	0.0002	0.0002	0.0002	0.0002	0.0014	0.0001	0.0001	0.0007	0.0005	2.405e-05	0	0.0001	0	0	0	0	0.0003	0	0.0014	1.0	0.00964	T	0.577	0.08594	T	.	.	.	.	.	.	0.003020	0.00933	N	3.870320	1	0.08975	N	.	.	.	3.11	0.08194	T	-0.11	0.08653	N	0.023	0.00942	-0.9678	0.37652	T	0.003	0.00961	T	9	0.0068871677	0.00156	T	0.003412	0.07664	T	0.012	0.01476	.	.	0.171220215726	0.16700	0.15869073597448372	0.15790	0.0864495979148	0.09759	0.200682848692	0.00477	T	.	.	.	-0.745868	0.00019	T	-0.863179	0.00810	T	0.00237724636758718	0.00025	T	0.483852	0.14720	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00470	B	.;.	.;.	-1.789902	0.00161	0.002	0.25776750548298505	0.01204	0.05584	0.11486	N	AEFGBCI	0.024798	0.01593	N	-1.67203378231138	0.00945	0.04096098	-1.78237334152742	0.00817	0.03649103	0.999999999868675	0.74766	0.706548	0.73137	0	0.577304	0.33150	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	4.96	-9.92	0.00377	-1.227000	0.03060	-1.993000	0.04377	-0.208000	0.08445	0.000000	0.06391	0.000000	0.08366	0.372000	0.26156	0.3928:0.3012:0.1549:0.1511	2.157	0.03582	496	0.76301	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	180.44	79	chr6	12120516	.	A	G	180.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.917;DP=380;ExcessHet=0;FS=2.276;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=-1.291;SOR=1.034	GT:AD:DP:GQ:PL	0/1:5,8:13:79:191,0,79	6	0	1	0
chr6	13470573	13470573	-	T	exonic	GFOD1	.	frameshift insertion	GFOD1:NM_001242629:exon2:c.310dupA:p.M104Nfs*48	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0036	0.0024	0.0147	0	0	0.0029	0.0122	0.0040	0.0001153	3	26028	rs758529514	0.0008	0.0039	0.0007	0.0008	0.0016	0.0007	0.0007	0.0012	0.0011	0.0005	0.0016	0.0004	0.0007	0.0004	0.0002	0.0008	0.0007	0.0006	0.0002	0.0003	0.0002	0.0003	0.0003	0.0002	0.0001	0.0002	0.0002	0.0001	0	0.0002	0	0	9.643e-05	0	0.0003	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	41.18	35	chr6	13470573	.	A	AT	41.18	.	AC=2;AF=0.143;AN=14;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=20.59;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:57,6,0	6	1	0	0
chr6	17606014	17606014	-	AGC	splicing	FAM8A1	NM_016255:exon4:c.1097+1->AGC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.229e-05	0.0008	8.557e-06	1.614e-05	0.0001	7.49e-06	6.12e-06	3.626e-05	2.201e-05	0	2.572e-05	8.267e-05	0.0001	0	0	7.531e-06	1.771e-05	1.315e-05	5.976e-05	0.0021	6.494e-05	5.434e-05	0.0002	3.107e-05	2.231e-05	5.349e-05	2.852e-05	2.42e-05	0	0.0002	0	0	0.0003	0	2.975e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	54.4	33	chr6	17606014	.	G	GAGC	54.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.619;DP=221;ExcessHet=0;FS=3.332;MLEAC=1;MLEAF=0.071;MQ=55.02;MQRankSum=-2.1;QD=6.8;ReadPosRankSum=0;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,2:8:65:0|1:17606014_G_GAGC:65,0,246:17606014	6	0	1	0
chr6	17606015	17606015	-	TTGATC	splicing	FAM8A1	NM_016255:exon4:c.1097+2->TTGATC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1187744890	1.269e-05	0.0008	8.826e-06	1.668e-05	0.0001	7.73e-06	6.32e-06	4.105e-05	2.388e-05	0	2.815e-05	8.875e-05	0.0001	0	0	7.714e-06	1.854e-05	1.38e-05	4.408e-05	0.0021	5.732e-05	3.016e-05	0.0002	1.882e-05	1.239e-05	2.645e-05	1.05e-05	2.579e-05	0	0.0002	0	0	0.0002	0	1.643e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	54.4	33	chr6	17606015	.	T	TTTGATC	54.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.1;DP=221;ExcessHet=0;FS=3.332;MLEAC=1;MLEAF=0.071;MQ=55.02;MQRankSum=-2.1;QD=6.8;ReadPosRankSum=-0.18;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,2:8:65:0|1:17606014_G_GAGC:65,0,246:17606014	6	0	1	0
chr6	31271334	31271334	-	CC	exonic	HLA-C	.	frameshift insertion	HLA-C:NM_001243042:exon3:c.357_358insGG:p.Q120Gfs*32,HLA-C:NM_002117:exon3:c.357_358insGG:p.Q120fs	.	2	1358	160	1	1	163	0.0562891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	0.0069	0.0046	0.0016	0.0007	0.0034	0.0049	0.0049	0.001921	50	26028	rs748394002	0.0001	0.0010	0.0001	0.0001	0.0008	9.76e-05	9.07e-05	0.0002	0.0002	5.481e-05	0.0001	0.0005	0.0003	6.819e-05	0.0008	8.739e-05	0.0001	0.0003	1.492e-05	0.0003	0	3.118e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0013	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1799.2	34	chr6	31271334	.	G	GCC	1799.2	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.242;DP=407;ExcessHet=0.3476;FS=1.388;MLEAC=2;MLEAF=0.143;MQ=58.32;MQRankSum=-0.398;QD=12.76;ReadPosRankSum=0;SOR=0.576	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,4:9:99:0|1:31271334_G_GCC:153,0,198:31271334	5	0	2	0
chr6	31271337	31271338	GG	-	exonic	HLA-C	.	frameshift deletion	HLA-C:NM_001243042:exon3:c.354_355del:p.L119Pfs*19,HLA-C:NM_002117:exon3:c.354_355del:p.T118fs	.	27	1333	161	1	0	163	0.0576175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	0.0067	0.0047	0.0016	0.0007	0.0034	0.0050	0.0050	0.001921	50	26028	rs778339286	0.0001	0.0010	0.0001	0.0001	0.0008	9.287e-05	8.672e-05	0.0002	0.0001	5.51e-05	0.0001	0.0005	0.0003	6.851e-05	0.0008	8.505e-05	0.0001	0.0003	1.517e-05	0.0003	0	3.171e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0013	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1802.2	32	chr6	31271336	.	AGG	A	1802.2	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.242;DP=404;ExcessHet=0.3476;FS=0.66;MLEAC=2;MLEAF=0.143;MQ=58.44;MQRankSum=-0.512;QD=12.87;ReadPosRankSum=0.816;SOR=0.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,4:8:99:0|1:31271334_G_GCC:156,0,156:31271334	5	0	2	0
chr6	31271337	31271337	G	0	exonic	HLA-C	.	.	.	.	86	537	715	64	120	963	0.43975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2168.03	33	chr6	31271337	.	G	*	2168.03	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.369;DP=409;ExcessHet=4.7409;FS=1.991;MLEAC=2;MLEAF=0.143;MQ=58.21;MQRankSum=0.259;QD=6.78;ReadPosRankSum=-1.354;SOR=0.84	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,4:8:99:0|1:31271334_G_GCC:156,0,156:31271334	5	0	2	0
chr6	31412384	31412384	G	0	exonic;splicing	MICA;MICA	NM_000247:exon6:c.949-1G>0	.	.	.	0	10	88	27	101	243	0.876543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	4534.51	23	chr6	31412384	.	G	*	4534.51	.	AC=6;AF=0.429;AN=14;DP=257;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.286;MQ=60;QD=27.99;SOR=2.147	GT:AD:DP:GQ:PL	1/1:0,1:1:1:2,1,0	2	1	4	0
chr6	31637239	31637239	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon30:c.T6248C:p.F2083S,PRRC2A:NM_080686:exon30:c.T6248C:p.F2083S	.	411	1024	80	7	0	94	0.0438842	.	.	.	3221664	PRRC2A-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.107	.	0.0060	0.00838658	0.0105	0.0066	0.0089	0.0014	0.0014	0.0098	0.0149	0.0250	0.0100128	1548	154602	rs35595439	0.0099	0.0099	0.0093	0.0105	0.0980	0.0098	0.0097	0.0913	0.0886	0.0064	0.0100	0.0241	0.0009	0.0009	0.0980	0.0087	0.0136	0.0245	0.0085	0.0085	0.0084	0.0086	0.0176	0.0081	0.0079	0.0146	0.0135	0.0064	0	0.0119	0.0236	0.0023	0.0007	0.0782	0.0087	0.0203	0.0176	0.009	0.57480	D	0.037	0.51737	D	0.99	0.63424	D	0.676	0.53321	P	0.037848	0.24353	N	0.374635	0.994293	0.42229	D	0.805	0.20218	L	4.59	0.01885	T	-0.02	0.07299	N	0.684	0.69037	-0.6465	0.62866	T	0.006	0.01907	T	10	0.0058432817	0.00130	T	.	.	.	0.107	0.30369	.	.	.	.	0.36497003574382164	0.36411	0.278578728581	0.30341	0.594195008278	0.52086	T	0.006049	0.05488	T	-0.447984	0.01161	T	-0.39735	0.33694	T	0.0174964733769842	0.00485	T	0.727827	0.34232	T	0.15795542	0.35562	0.16183853	0.37623	0.15795542	0.35562	0.16183853	0.37622	-1.277	0.01365	T	.	.	0.381	0.58464	A	.;.	.;.	3.781721	0.54376	23.5	0.98768474912641135	0.45924	0.93029	0.57147	D	AEFDBHCI	0.674946	0.64050	D	0.358168924707542	0.59173	4.094471	0.416011924713983	0.62563	4.473676	0.99999993239348	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.63	5.63	0.86108	2.432000	0.44442	.	.	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.531000	0.29730	0.0:0.0:0.0:1.0	13.654	0.61799	884	0.28482	.;.	STK19|STK19B|LY6G5B|STK19B|TNXA|STK19B|STK19B|STK19|STK19B|LY6G5B|LY6G5C|STK19B|STK19B|LY6G5B|STK19B|POU5F1|STK19B|MPIG6B|STK19|STK19B|POU5F1|STK19B|LY6G5B|STK19B|LY6G5B|LY6G5B|STK19|LST1|PRRC2A|LY6G5B|STK19|STK19B|STK19|STK19B|STK19B|STK19B|NELFE|LY6G5B|LY6G5C|STK19|STK19B|C4B|CYP21A2|AIF1|LY6G5C|STK19B	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood	STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|MSH5	Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Nerve_Tibial|Nerve_Tibial|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis	rs115912333	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.059368	0.116162	0.059783	0.127660	0.200000	0.077586	0.012195	0.030303	0.1429	2019.24	37	chr6	31637239	.	T	C	2019.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.732;DP=376;ExcessHet=0.3476;FS=7.328;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=0;SOR=0.38	GT:AD:DP:GQ:PL	0/1:5,5:10:99:110,0,135	5	0	2	0
chr6	32089253	32089253	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon5:c.G2485A:p.G829S,TNXB:NM_019105:exon5:c.G2485A:p.G829S	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	0	1487	34	1	0	36	0.0119601	.	.	.	1269701	Ehlers-Danlos_syndrome|not_provided|Cardiovascular_phenotype	MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:C3661900|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.324	0.0506389190351	0.0002	0.000399361	0.0014	0.0001	0.0003	0.0002	0.0002	0.0004	0.0036	0.0084	0.0011643	180	154602	rs147172260	0.0008	0.0008	0.0006	0.0011	0.0077	0.0008	0.0008	0.0072	0.0070	0.0002	0.0002	0.0001	0.0002	5.952e-05	0.0052	0.0004	0.0010	0.0077	0.0004	0.0004	0.0003	0.0005	0.0052	0.0003	0.0003	0.0036	0.0031	4.814e-05	0	0.0001	0.0006	0	0	0	0.0004	0.0019	0.0052	0.613	0.05420	T	0.0	0.92824	D	.	.	.	.	.	.	0.000103	0.50451	D	0.000000	0.98473	0.40186	D	.	.	.	0.0	0.62608	T	-4.65	0.79399	D	0.497	0.53006	-0.9127	0.46518	T	0.142	0.46275	T	10	0.008799136	0.00199	T	0.050639	0.64325	D	0.324	0.64624	.	.	0.358461578395	0.35455	.	.	.	.	0.578430056572	0.49865	T	0.29263	0.66535	T	-0.386751	0.02823	T	-0.323752	0.42162	T	0.0958633468784397	0.11895	T	0.715628	0.54791	T	0.43143234	0.62846	0.43191615	0.66794	0.42014903	0.62102	0.42535052	0.66346	-5.497	0.41840	T	0.12625993868028798	0.12714	0.176	0.38498	B	.;.;.;.	.;.;.;.	4.109917	0.61346	24.3	0.99811975144416765	0.89531	0.92780	0.56527	D	AEFDBI	0.608898	0.59830	D	0.25693665237549	0.53982	3.565097	0.329674899078023	0.57291	3.89425	0.999999999999063	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.19	5.19	0.71428	2.800000	0.47595	.	.	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	16.254	0.82326	911	0.21964	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004907	0.000000	0.001359	0.005319	0.000000	0.000000	0.006098	0.015152	0.1429	33.22	34	chr6	32089253	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr6	32192154	32192154	G	C	exonic	GPSM3	.	nonsynonymous SNV	GPSM3:NM_001276501:exon2:c.C139G:p.H47D,GPSM3:NM_022107:exon6:c.C139G:p.H47D	.	410	1060	48	4	0	56	0.0257353	.	.	.	699536	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.023	.	0.0073	0.0061901	0.0066	0.0098	0.0060	0.0012	0.0013	0.0069	0.0091	0.0108	0.0058925	911	154602	rs148125791	0.0067	0.0066	0.0064	0.0069	0.0808	0.0066	0.0065	0.0744	0.0718	0.0087	0.0067	0.0203	0.0008	0.0015	0.0808	0.0060	0.0089	0.0117	0.0070	0.0070	0.0068	0.0072	0.0091	0.0067	0.0065	0.0080	0.0077	0.0088	0	0.0076	0.0179	0.0017	0.0011	0.0680	0.0059	0.0180	0.0091	0.084	0.32929	T	0.831	0.03852	T	0.001	0.07471	B	0.004	0.10090	B	0.356866	0.13730	U	0.619103	0.788139	0.29257	N	0.805	0.20218	L	.	.	.	0.09	0.06138	N	0.304	0.42050	-1.0233	0.22638	T	0.025	0.10553	T	9	0.004505217	0.00093	T	.	.	.	0.023	0.04649	.	.	0.043077524339	0.03247	0.20364634683512572	0.20281	0.62489570063	0.56679	0.689792633057	0.65676	T	0.013766	0.11844	T	-0.486729	0.00677	T	-0.461541	0.26431	T	0.0015793075113103	0.00016	T	0.59504	0.22051	T	0.07228547	0.16068	0.070643276	0.15035	0.07228547	0.16067	0.070643276	0.15034	-2.883	0.08974	T	.	.	0.097	0.15921	B	.;.;.	.;.;.	1.395790	0.18093	13.54	0.54812258607588749	0.05213	0.28990	0.23703	N	AEFDBHCI	0.298807	0.40802	N	-0.977740949507368	0.09080	0.4283037	-0.945021066886185	0.11039	0.5599214	0.999999359385914	0.74766	0.489673	0.17934	0	0.52208	0.09955	0	0.584781	0.30282	0	0.662433	0.64102	0	.	.	2.69	1.81	0.24139	0.980000	0.29111	.	.	-0.191000	0.09375	0.048000	0.21332	0.426000	0.24831	0.823000	0.38780	0.0:0.0:0.7268:0.2732	6.930	0.23615	934	0.15400	.;.;.	.	.	.	.	rs148125791	Likely benign	0	0	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	0.046601	0.092784	0.044837	0.118280	0.100000	0.068966	0.009146	0.015152	0.1429	1214.24	33	chr6	32192154	.	G	C	1214.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0;DP=258;ExcessHet=0.3476;FS=0.797;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=0.221;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,4:5:21:.:.:118,0,21:.	5	0	2	0
chr6	32522156	32522156	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	13412.6	23	chr6	32522156	.	T	*	13412.6	.	AC=6;AF=0.429;AN=14;DP=399;ExcessHet=0;FS=0;MLEAC=6;MLEAF=0.429;MQ=46.61;QD=33.7;SOR=1.193	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,1:6:27:0|1:32522148_C_T:252,210,207:32522148	1	0	6	0
chr6	32584177	32584178	CG	0	exonic	HLA-DRB1	.	.	.	.	55	575	391	86	415	978	0.328663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	15396.9	93	chr6	32584177	.	CG	*	15396.9	.	AC=10;AF=0.714;AN=14;DP=815;ExcessHet=0;FS=0;MLEAC=10;MLEAF=0.714;MQ=54.19;QD=20;SOR=1.274	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,1:13:6:0|1:32584151_G_A:6,0,501:32584151	1	4	2	0
chr6	32584178	32584178	G	0	exonic	HLA-DRB1	.	.	.	.	53	515	203	35	716	989	0.209517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	490.48	93	chr6	32584178	.	G	*	490.48	.	AC=13;AF=0.929;AN=14;DP=815;ExcessHet=0;FS=0;MLEAC=13;MLEAF=0.929;MQ=53.91;QD=0.65;SOR=1.263	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,1:13:6:0|1:32584178_G_*:546,504,501:32584178	0	6	1	0
chr6	32584184	32584184	G	0	exonic	HLA-DRB1	.	.	.	.	80	969	165	64	244	537	0.131331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4430.5	106	chr6	32584184	.	G	*	4430.5	.	AC=2;AF=0.143;AN=14;BaseQRankSum=7.8;DP=865;ExcessHet=0.3696;FS=4.834;MLEAC=2;MLEAF=0.143;MQ=52.55;MQRankSum=-5.586;QD=10.35;ReadPosRankSum=-1.673;SOR=1.117	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,12:13:36:.:.:540,36,0:.	6	1	0	0
chr6	32584185	32584185	C	0	exonic	HLA-DRB1	.	.	.	.	82	1001	166	64	209	503	0.128049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4540.5	110	chr6	32584185	.	C	*	4540.5	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.45;DP=873;ExcessHet=0.3696;FS=3.768;MLEAC=2;MLEAF=0.143;MQ=52.59;MQRankSum=-5.672;QD=10.41;ReadPosRankSum=-1.904;SOR=1.022	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,12:13:36:.:.:540,36,0:.	6	1	0	0
chr6	32584353	32584353	C	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon2:c.101-1G>0	.	.	.	171	315	497	500	39	1536	0.703808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	78167.9	323	chr6	32584353	.	C	*	78167.9	.	AC=2;AF=0.143;AN=14;DP=1927;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=53.08;QD=30.56;SOR=1.399	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,1:3:30:0|1:32584353_C_A:120,84,165:32584353	5	0	2	0
chr6	32584354	32584354	C	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon2:c.101-2G>0	.	.	.	175	338	454	378	177	1387	0.641569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	74248.9	319	chr6	32584354	.	C	*	74248.9	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.398;DP=1895;ExcessHet=0;FS=5.338;MLEAC=2;MLEAF=0.143;MQ=52.97;MQRankSum=6.13;QD=30.75;ReadPosRankSum=-3.634;SOR=1.324	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,1:3:30:0|1:32584353_C_A:120,84,165:32584353	5	0	2	0
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	24561.1	243	chr6	32584370	.	G	*	24561.1	.	AC=6;AF=0.429;AN=14;BaseQRankSum=5.49;DP=1443;ExcessHet=0.3476;FS=0;MLEAC=6;MLEAF=0.429;MQ=51.3;MQRankSum=-1.108;QD=17.24;ReadPosRankSum=5.06;SOR=1.523	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,2:3:36:0|1:32584353_C_A:81,0,36:32584353	1	0	6	0
chr6	32589684	32589684	A	G	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon1:c.T59C:p.M20T	.	1	1193	328	0	0	328	0.120855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	.	.	0.0009	0.0026	0	0	0.0002	0.0012	0.0011	0.0004	0.0042646	111	26028	rs35053532	0.0006	0.0073	0.0006	0.0007	0.0022	0.0006	0.0006	0.0017	0.0016	0.0005	0.0009	0.0017	0.0008	0.0006	0.0022	0.0005	0.0008	0.0020	0.0010	0.0084	0.0014	0.0007	0.0018	0.0009	0.0008	0.0012	0.0011	0.0005	0.0033	0.0007	0.0032	0.0018	0	0	0.0015	0	0.0004	0.015	0.52492	D	0.163	0.31125	T	0.049	0.22227	B	0.034	0.22546	B	0.130685	0.02806	N	1.753860	0.999999	0.08975	N	.	.	.	8.43	0.00232	T	-2.54	0.55025	D	0.351	0.39254	-0.9412	0.42426	T	0.000	0.00075	T	10	0.023282856	0.00605	T	.	.	.	0.077	0.22490	.	.	0.370240404367	0.36630	0.4121927582371236	0.41135	0.84044661693	0.68037	.	.	.	0.009999	0.09062	T	-0.155507	0.27453	T	-0.461152	0.26474	T	0.0196228360865429	0.00665	T	0.529047	0.17505	T	0.35031834	0.57092	0.4314815	0.66765	0.35031834	0.57092	0.4314815	0.66765	-2.481	0.05653	T	.	.	0.110	0.21353	B	.	.	2.014600	0.25599	16.82	0.8036740669395388	0.13170	0.04417	0.10008	N	ALL	0.194190	0.32128	N	-0.683751231317595	0.16484	0.8402923	-0.710060751366673	0.16710	0.8852588	0.99999996150014	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.584781	0.30282	0	0.687789	0.68303	1	.	.	4.4	2.05	0.25860	1.398000	0.34163	.	.	0.750000	0.87069	0.802000	0.29747	0.000000	0.08366	0.027000	0.12703	0.7604:0.0:0.2396:0.0	5.311	0.15141	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016507	0.035354	0.010870	0.034188	0.050000	0.000000	0.021341	0.007576	0.1429	4499.24	135	chr6	32589684	.	A	G	4499.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.269;DP=1110;ExcessHet=0.3476;FS=1.195;MLEAC=2;MLEAF=0.143;MQ=47.67;MQRankSum=1.39;QD=10.49;ReadPosRankSum=0.98;SOR=0.791	GT:AD:DP:GQ:PL	0/1:8,3:11:99:102,0,327	5	0	2	0
chr6	32641462	32641462	G	0	exonic	HLA-DQA1	.	.	.	.	480	493	54	16	479	565	0.0802239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	907.51	68	chr6	32641462	.	G	*	907.51	.	AC=9;AF=0.643;AN=14;DP=833;ExcessHet=2.5225;FS=10.673;MLEAC=9;MLEAF=0.643;MQ=53.04;QD=1.1;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,4:11:99:0|1:32641430_C_T:147,0,282:32641430	0	2	5	0
chr6	32641464	32641464	T	0	exonic	HLA-DQA1	.	.	.	.	475	499	54	15	479	563	0.077634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	910.51	68	chr6	32641464	.	T	*	910.51	.	AC=9;AF=0.643;AN=14;DP=836;ExcessHet=2.5225;FS=9.491;MLEAC=9;MLEAF=0.643;MQ=53.75;QD=1.11;SOR=0.927	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,4:11:99:0|1:32641430_C_T:147,0,282:32641430	0	2	5	0
chr6	32664917	32664917	C	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.G260T:p.R87L,HLA-DQB1:NM_002123:exon2:c.G260T:p.R87L	.	41	553	66	57	805	985	0.139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	.	.	.	0.0178	0.0094	0.0074	0.0044	0.0110	0.0123	0.0177	0.0613	0.0308211	4765	154602	rs1130380	0.0002	0.0028	0.0002	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	6.946e-05	7.264e-05	8.514e-05	0	0.0002	0.0004	0.0001	0.0001	0.0006	6.32e-05	0.0064	1.542e-05	0.0001	6.948e-05	3.113e-05	2.259e-05	2.321e-05	1.392e-05	2.998e-05	0	0	0.0010	0	0	0	6.948e-05	0	0	0.065	0.44029	T	0.021	0.58613	D	0.001	0.09854	B	0.004	0.10090	B	0.941407	0.08351	U	0.961307	0.979372	0.39555	D	.	.	.	7.87	0.00331	T	-5.88	0.88699	D	0.129	0.12341	-1.0646	0.10642	T	0.000	0.00039	T	10	0.003316313	0.00057	T	.	.	.	0.088	0.25558	.	.	.	.	0.3182965296469853	0.31742	0.691323969143	0.60588	0.299167692661	0.10277	T	0.017577	0.14314	T	-0.655468	0.00067	T	-0.649226	0.09008	T	0.02403772754452	0.01149	T	0.162684	0.01473	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23219	B	.;.;.;.	.;.;.;.	1.177431	0.15679	12.02	0.80016420578156267	0.13006	0.03612	0.08845	N	ALL	0.215815	0.34113	N	-2.29836096021619	0.00046	0.001970145	-2.22797978748312	0.00097	0.004250061	0.999999969366938	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.193	0.14419	0.297000	0.18856	.	.	-4.622000	0.00024	0.032000	0.20554	0.000000	0.08366	0.000000	0.00833	0.0:0.4718:0.2098:0.3184	5.435	0.15776	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	20647.3	120	chr6	32664917	.	C	A	20647.3	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.131;DP=1018;ExcessHet=4.7409;FS=1.742;MLEAC=5;MLEAF=0.357;MQ=59.02;MQRankSum=0;QD=20.5;ReadPosRankSum=0.072;SOR=0.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,3:16:87:0|1:32664910_A_G:87,0,537:32664910	3	1	3	0
chr6	32664926	32664926	G	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.C251T:p.P84L,HLA-DQB1:NM_002123:exon2:c.C251T:p.P84L	.	20	1284	160	58	0	276	0.0970464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	.	.	0.0182	0.0107	0.0076	0.0048	0.0114	0.0123	0.0151	0.0628	0.0296956	4591	154602	rs9274395	0.0003	0.0032	0.0003	0.0003	0.0011	0.0003	0.0003	0.0009	0.0008	7.464e-05	0.0002	0.0001	0	0.0003	0.0006	0.0003	0.0003	0.0011	0.0002	0.0078	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	7.089e-05	0.0002	0	0	0.0014	0	0	0.0046	0.0002	0	0.0006	0.069	0.40068	T	0.043	0.49942	D	0.052	0.22494	B	0.029	0.21540	B	0.099669	0.19922	U	0.369227	0.722216	0.33630	D	.	.	.	8.26	0.00269	T	-3.84	0.75058	D	0.15	0.15328	-0.9881	0.33077	T	0.001	0.00287	T	10	0.006448716	0.00146	T	.	.	.	0.119	0.33137	.	.	.	.	0.18514000446126433	0.18431	0.566269477264	0.52927	0.319175481796	0.13295	T	0.014743	0.12495	T	-0.159806	0.26790	T	-0.467326	0.25804	T	0.051758160492758	0.05806	T	0.0806919	0.00607	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.25656	B	.;.;.;.	.;.;.;.	1.397222	0.18105	13.55	0.99226900122916373	0.56089	0.07262	0.13285	N	ALL	0.271360	0.38723	N	-0.744876639371783	0.14773	0.7387562	-0.902920104954735	0.12025	0.6161842	0.999999967135338	0.74766	0.652421	0.48094	0	0.504199	0.08210	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.064	0.13666	-0.204000	0.09426	.	.	-0.499000	0.05024	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.5119:0.4881	10.579	0.44436	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	rs9274395	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	4522.09	121	chr6	32664926	.	G	A	4522.09	.	AC=5;AF=0.357;AN=14;BaseQRankSum=2.97;DP=1022;ExcessHet=0.4813;FS=10.479;MLEAC=5;MLEAF=0.357;MQ=56.49;MQRankSum=-3.201;QD=13.42;ReadPosRankSum=-2.385;SOR=0.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,3:17:84:0|1:32664910_A_G:84,0,579:32664910	3	1	3	0
chr6	32745916	32745916	T	G	exonic	HLA-DQA2	.	nonsynonymous SNV	HLA-DQA2:NM_020056:exon3:c.T457G:p.S153A	.	193	1323	6	0	0	6	0.00226244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.0155	0.0088	0.0041	0.0113	0.0092	0.0121	0.0221	0.0454	.	.	.	rs146057838	6.128e-05	0.0019	5.754e-05	6.507e-05	0.0002	5.061e-05	4.702e-05	0.0001	0.0001	0	0	0.0001	2.526e-05	5.75e-05	0	5.697e-05	1.664e-05	0.0002	1.313e-05	7.218e-05	2.569e-05	0	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	9.418e-05	0	1.47e-05	0	0	0.345	0.12511	T	0.253	0.23501	T	0.0	0.02946	B	0.003	0.08700	B	0.182904	0.03195	N	1.691850	1	0.08975	N	0.64	0.16041	N	4.15	0.02815	T	-0.22	0.10480	N	0.038	0.01203	-0.9247	0.44901	T	0.002	0.00769	T	10	0.004250288	0.00085	T	.	.	.	0.027	0.05988	.	.	.	.	0.0890194783846125	0.08834	0.338264766001	0.35804	0.288285970688	0.08673	T	0.001291	0.00775	T	-0.294874	0.09152	T	-0.661342	0.08176	T	0.00664225175806282	0.00074	T	.	.	.	0.12412074	0.29130	0.09937215	0.23725	0.12412074	0.29130	0.09937215	0.23724	-6.85	0.52930	T	.	.	0.067	0.02488	B	.	.	-0.163931	0.03278	0.562	0.79980063418902569	0.12989	0.01967	0.05961	N	ALL	0.044876	0.07272	N	-1.35712324688748	0.03052	0.1357202	-1.51134464119932	0.02256	0.1034977	0.995559138312263	0.34191	0.675202	0.55065	0	0.67197	0.64623	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.06	-6.13	0.01937	-1.758000	0.01908	.	.	0.344000	0.19825	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2583:0.4151:0.1313:0.1954	2.063	0.03378	940	0.13648	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	0.033152	0.010101	0.027174	0.041667	0.000000	0.034483	0.033537	0.060606	0.07143	31.44	157	chr6	32745916	.	T	G	31.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.226;DP=1315;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=55.02;MQRankSum=-2.66;QD=1.65;ReadPosRankSum=1.15;SOR=0.399	GT:AD:DP:GQ:PL	0/1:15,4:19:42:42,0,403	6	0	1	0
chr6	32978252	32978252	G	A	exonic	BRD2	.	nonsynonymous SNV	BRD2:NM_001199455:exon9:c.G1705A:p.A569T,BRD2:NM_001199456:exon9:c.G1564A:p.A522T,BRD2:NM_001113182:exon10:c.G1705A:p.A569T,BRD2:NM_005104:exon10:c.G1705A:p.A569T,BRD2:NM_001291986:exon11:c.G1345A:p.A449T	.	432	1059	30	1	0	32	0.0148837	.	.	.	721980	not_provided|BRD2-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.031	.	0.0069	0.00638978	0.0050	0.0123	0.0033	0.0006	0.0011	0.0049	0.0046	0.0068	0.0047671	737	154602	rs34530779	0.0042	0.0042	0.0041	0.0043	0.0366	0.0041	0.0041	0.0326	0.0310	0.0133	0.0026	0.0168	0.0004	0.0014	0.0366	0.0035	0.0060	0.0063	0.0059	0.0059	0.0061	0.0056	0.0120	0.0055	0.0054	0.0111	0.0107	0.0120	0	0.0031	0.0159	0.0006	0.0008	0.0476	0.0033	0.0100	0.0046	0.562	0.13175	T	0.451	0.16134	T	0.001	0.07471	B	0.003	0.08700	B	0.716158	0.09973	N	0.849248	1	0.08975	N	1.245	0.31408	L	1.84	0.24656	T	-0.16	0.13226	N	0.091	0.10340	-0.9331	0.43680	T	0.012	0.04653	T	10	0.0040821135	0.00080	T	.	.	.	0.031	0.07369	.	.	0.500921690253	0.49727	0.14532404662508713	0.14455	.	.	0.452691048384	0.32311	T	0.165661	0.51160	T	-0.540883	0.00331	T	-0.539329	0.18363	T	0.0051484503664083	0.00056	T	.	.	.	0.027420428	0.01931	0.049333945	0.07518	0.027420428	0.01930	0.049333945	0.07518	-5.591	0.42710	T	.	.	0.063	0.01470	B	.;.;.;.	.;.;.;.	1.150463	0.15388	11.81	0.99329605284450684	0.59738	0.44858	0.27411	N	AEFDBHCI	0.399904	0.47500	N	-0.877777422592138	0.11373	0.5484714	-0.843724644830554	0.13438	0.6971273	0.999999047228218	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.24	0.395	0.15527	1.219000	0.32083	.	.	-0.117000	0.14459	0.003000	0.16062	0.000000	0.08366	0.288000	0.24212	0.4739:0.1853:0.3408:0.0	3.989	0.09020	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	1	0	0.023965	0.005051	0.028533	0.058511	0.050000	0.052632	0.006098	0.015152	0.07143	60.44	38	chr6	32978252	.	G	A	60.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.38;DP=253;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.11;ReadPosRankSum=-1.383;SOR=2.303	GT:AD:DP:GQ:PL	0/1:2,2:4:37:71,0,37	6	0	1	0
chr6	33203026	33203026	A	G	exonic	SLC39A7	.	nonsynonymous SNV	SLC39A7:NM_006979:exon6:c.A1057G:p.M353V,SLC39A7:NM_001077516:exon7:c.A1057G:p.M353V,SLC39A7:NM_001288777:exon7:c.A682G:p.M228V	.	427	1081	13	1	0	15	0.00689022	.	.	.	1155353	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.052	0.00513771836485	0.0004	0.000199681	0.0014	0.0001	0.0005	0.0008	0	0.0003	0.0023	0.0076	0.0011125	172	154602	rs200791329	0.0007	0.0007	0.0005	0.0010	0.0071	0.0007	0.0007	0.0066	0.0064	2.989e-05	0.0006	3.831e-05	0.0004	1.912e-05	0.0054	0.0003	0.0009	0.0071	0.0003	0.0003	0.0003	0.0004	0.0046	0.0003	0.0002	0.0031	0.0026	7.216e-05	0	0.0003	0	0.0012	0	0	0.0002	0	0.0046	0.236	0.17940	T	0.323	0.18959	T	0.004	0.12183	B	0.002	0.06944	B	0.000896	0.41231	D	0.240936	0.50993	0.31811	D	-1.575	0.00449	N	1.0	0.41392	T	0.78	0.01921	N	0.291	0.32921	-0.9702	0.37157	T	0.010	0.03627	T	10	0.005872607	0.00131	T	0.005138	0.13063	T	0.052	0.14661	.	.	0.19670166235	0.19296	0.4319747253043557	0.43114	0.46444146622	0.45918	0.492717683315	0.37815	T	0.002092	0.01499	T	-0.529099	0.00389	T	-0.528786	0.19409	T	0.0107716416624311	0.00152	T	.	.	.	0.11197671	0.26458	0.2000067	0.43911	0.11197671	0.26457	0.2000067	0.43910	-3.0	0.10181	T	.	.	0.077	0.07177	B	.;.	.;.	1.254774	0.16519	12.59	0.87520404131795138	0.17286	0.29912	0.23946	N	AEFBHCI	0.329543	0.42985	N	-0.897355671933636	0.10904	0.5234749	-0.694521476965749	0.17097	0.9075493	0.999812444888421	0.43459	0.645754	0.44609	0	0.696144	0.67643	0	0.697927	0.64325	0	0.723	0.93126	0	.	.	5.02	2.62	0.30337	0.262000	0.18229	3.112000	0.36364	0.738000	0.86027	0.031000	0.20493	0.978000	0.30204	0.997000	0.79791	0.7337:0.1731:0.0932:0.0	6.241	0.20000	721	0.55360	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002179	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.007576	0.07143	148.44	33	chr6	33203026	.	A	G	148.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.473;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=0.176;SOR=0.941	GT:AD:DP:GQ:PL	0/1:4,7:11:66:159,0,66	6	0	1	0
chr6	33305046	33305046	C	A	exonic	TAPBP	.	nonsynonymous SNV	TAPBP:NM_172209:exon3:c.G550T:p.A184S,TAPBP:NM_003190:exon4:c.G811T:p.A271S,TAPBP:NM_172208:exon4:c.G811T:p.A271S	Bare lymphocyte syndrome, type I, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.0126163232645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.58626	D	0.0	0.92824	D	0.997	0.70673	D	0.837	0.59984	P	0.000006	0.62929	D	0.107907	0.72335	0.33641	D	.	.	.	1.39	0.34841	T	-1.42	0.35597	N	0.656	0.70263	-0.8518	0.51844	T	0.143	0.46532	T	10	0.79180574	0.78725	D	0.012616	0.31353	T	0.173	0.43840	0.691	0.82843	0.420939154896	0.41709	0.5304176261749688	0.52965	1.05958384172	0.76439	0.559363245964	0.47179	T	0.067543	0.33517	T	0.0321773	0.56012	T	-0.191556	0.55444	T	0.901582929004822	0.55435	D	0.918208	0.70605	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.287	0.55222	B	.;.;.;.	.;.;.;.	4.548734	0.71574	25.7	0.9975267434811188	0.84382	0.68001	0.33639	D	AEFBHCI	0.318882	0.42245	N	0.571661364379152	0.71411	5.646703	0.534582167980006	0.70332	5.489682	0.99999447960723	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.69	4.69	0.58546	2.347000	0.43692	7.522000	0.59778	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.609000	0.31615	0.0:1.0:0.0:0.0	12.981	0.57966	645	0.63593	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	30	chr6	33305046	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=194;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr6	33305234	33305234	C	T	exonic	TAPBP	.	nonsynonymous SNV	TAPBP:NM_172209:exon3:c.G362A:p.R121H,TAPBP:NM_003190:exon4:c.G623A:p.R208H,TAPBP:NM_172208:exon4:c.G623A:p.R208H	Bare lymphocyte syndrome, type I, Autosomal recessive	0	1520	1	0	1	2	0.000328839	.	.	.	721986	MHC_class_I_deficiency	MONDO:MONDO:0011476,MedGen:C1858266,OMIM:PS604571,Orphanet:34592	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.044	0.00351348650301	0.0011	0.000199681	0.0003	0.0035	0.0003	0	0	1.537e-05	0	0	0.0002911	45	154602	rs138273100	9.652e-05	9.85e-05	0.0001	8.532e-05	0.0028	8.315e-05	7.855e-05	0.0023	0.0022	0.0028	0.0002	0	0	0	0.0003	1.62e-05	0.0003	1.16e-05	0.0012	0.0012	0.0013	0.0010	0.0039	0.0010	0.0010	0.0034	0.0032	0.0039	0	0.0007	0	0	0	0	5.879e-05	0.0024	0	0.341	0.19430	T	0.0	0.92824	D	0.269	0.31731	B	0.038	0.23361	B	0.001008	0.40652	N	0.247960	0.557886	0.31281	N	.	.	.	1.49	0.32238	T	-1.11	0.30140	N	0.168	0.27316	-1.0484	0.14846	T	0.022	0.09147	T	10	0.01377219	0.00291	T	0.003513	0.07969	T	0.044	0.11924	.	.	0.542896531885	0.53943	0.4411217493576432	0.44029	0.531617189357	0.50652	0.330645412207	0.15032	T	0.025384	0.18993	T	-0.505527	0.00532	T	-0.498665	0.22486	T	0.019364164129644	0.00641	T	0.884811	0.60904	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.21011	B	.;.;.;.;.	.;.;.;.;.	2.214639	0.28255	17.74	0.99032333686875607	0.50830	0.41158	0.26596	N	AEFBCI	0.185543	0.31286	N	-0.140147229212249	0.35655	2.050773	-0.0640259470637805	0.36890	2.152682	0.997294864156501	0.35467	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.96	3.06	0.34374	0.327000	0.19408	-0.410000	0.09352	0.589000	0.31548	0.988000	0.36536	0.064000	0.22093	0.999000	0.91618	0.0:0.7663:0.0:0.2337	6.579	0.21781	645	0.63593	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1429	33.22	37	chr6	33305234	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=226;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr6	43433148	43433148	C	G	exonic	ABCC10	.	nonsynonymous SNV	ABCC10:NM_033450:exon1:c.C1039G:p.R347G,ABCC10:NM_001198934:exon3:c.C1168G:p.R390G	.	.	.	.	.	.	.	.	.	.	.	2438659	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.904	0.195967073657	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs528202255	5.473e-06	5.472e-06	2.723e-06	8.251e-06	2.987e-05	2.35e-06	1.7e-06	1.32e-06	9.6e-07	2.987e-05	0	0	0	0	0	4.497e-06	3.312e-05	0	1.971e-05	1.97e-05	1.284e-05	2.689e-05	4.824e-05	5.24e-06	2.45e-06	7.99e-06	2.99e-06	4.824e-05	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.986	0.88582	D	0.000004	0.62929	D	0.061096	1	0.81001	D	3.77	0.95173	H	-2.53	0.89430	D	-6.4	0.91184	D	0.939	0.94550	0.931	0.96119	D	0.847	0.94898	D	10	0.90272355	0.89635	D	0.195967	0.86452	D	0.904	0.97361	0.672	0.81002	0.954082268687	0.95359	0.8315173011152087	0.83110	0.777272365616	0.65101	0.673156261444	0.63287	T	0.602987	0.87303	D	0.427709	0.91416	D	0.392084	0.91851	D	0.989217877388	0.79464	D	0.829717	0.49530	T	0.8346772	0.86230	0.83912015	0.90780	0.8346772	0.86231	0.83912015	0.90780	-10.453	0.78812	D	.	.	0.586	0.68297	P	.;.	.;.	3.669057	0.52162	23.2	0.99883224464875275	0.95892	0.95635	0.65514	D	AEFBI	0.729005	0.67685	D	0.706363834267408	0.80049	7.209071	0.599956574427507	0.74938	6.223	0.999999942641211	0.74766	0.617157	0.39670	1	0.577304	0.33150	0	0.786243	0.99158	0	0.635551	0.53088	0	.	.	5.37	4.48	0.53973	2.728000	0.46990	1.237000	0.25081	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.3031:0.6969:0.0:0.0	13.749	0.62381	500	0.76024	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	276.44	37	chr6	43433148	.	C	G	276.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.693;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.26;ReadPosRankSum=1.76;SOR=0.836	GT:AD:DP:GQ:PL	0/1:4,13:17:48:287,0,48	6	0	1	0
chr6	47879663	47879663	C	T	exonic	PTCHD4	.	nonsynonymous SNV	PTCHD4:NM_001013732:exon3:c.G1181A:p.G394D,PTCHD4:NM_001384253:exon5:c.G1172A:p.G391D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.902	0.20782976184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.135	0.59519	M	-2.01	0.85468	D	-6.51	0.91653	D	0.955	0.96416	0.499	0.90534	D	0.729	0.90740	D	10	0.91200733	0.90566	D	0.20783	0.87114	D	0.902	0.97286	0.69	0.82748	0.930885548319	0.93018	0.8829038473598709	0.88258	0.577604299883	0.53677	0.935613512993	0.99274	D	0.661584	0.89851	D	0.424157	0.91233	D	0.371496	0.91125	D	0.995816051959991	0.88121	D	0.928907	0.73860	D	0.94604033	0.95862	0.92165154	0.96514	0.94604033	0.95863	0.92165154	0.96515	-8.032	0.61288	D	.	.	0.992	0.94095	P	.	.	4.794884	0.77846	26.8	0.99740766051118668	0.83482	0.98112	0.79700	D	AEFBI	0.908094	0.86294	D	0.815943854686388	0.87093	9.100482	0.770524736938804	0.87681	9.306754	0.999999971639541	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.01	5.01	0.66477	7.568000	0.81546	7.728000	0.67649	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.332	0.90215	666	0.61362	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	52.44	46	chr6	47879663	.	C	T	52.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.383;DP=792;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.83;ReadPosRankSum=-1.085;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,2:9:63:0|1:47879663_C_T:63,0,288:47879663	6	0	1	0
chr6	49698387	49698387	T	C	exonic	CRISP2	.	nonsynonymous SNV	CRISP2:NM_001142407:exon6:c.A392G:p.N131S,CRISP2:NM_001142435:exon6:c.A392G:p.N131S,CRISP2:NM_001261822:exon6:c.A392G:p.N131S,CRISP2:NM_001142408:exon7:c.A392G:p.N131S,CRISP2:NM_001142417:exon7:c.A392G:p.N131S,CRISP2:NM_003296:exon7:c.A392G:p.N131S	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	0.0078	0.00698882	0.0023	0.0242	0.0013	0	0	7.503e-05	0.0011	0	0.002141	331	154602	rs34457011	0.0007	0.0007	0.0008	0.0006	0.0248	0.0007	0.0007	0.0234	0.0228	0.0248	0.0016	0	0	0	0.0014	5.578e-05	0.0015	2.322e-05	0.0069	0.0069	0.0072	0.0066	0.0237	0.0066	0.0064	0.0225	0.0220	0.0237	0	0.0032	0	0.0002	0	0	5.881e-05	0.0057	0	0.124	0.27426	T	0.182	0.31326	T	0.041	0.21357	B	0.038	0.23361	B	0.965097	0.08197	N	0.986209	1	0.08975	N	1.455	0.36767	L	2.96	0.09542	T	-2.09	0.47683	N	0.081	0.05670	-0.9105	0.46793	T	0.007	0.02360	T	10	0.004146248	0.00082	T	.	.	.	0.012	0.01476	.	.	0.18995819373	0.18626	0.23190623093314208	0.23105	0.0173074127301	0.01682	0.23190382123	0.02112	T	0.009038	0.08254	T	-0.779173	0.00011	T	-0.87308	0.00714	T	0.00776685539843435	0.00091	T	0.480552	0.14510	T	0.06275846	0.13143	0.048114154	0.07077	0.06275846	0.13143	0.048114154	0.07076	-5.874	0.47558	T	.	.	0.075	0.05623	B	.;.;.	.;.;.	-1.175685	0.00556	0.013	0.51030310289204861	0.04489	0.03331	0.08406	N	AEFBHCI	0.038302	0.05399	N	-1.23145624014831	0.04550	0.2055746	-1.27803710207892	0.04728	0.2237188	7.03381154734825E-4	0.07666	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.26	-1.44	0.08391	-1.357000	0.02714	-8.463000	0.00965	-0.684000	0.04190	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3052:0.282:0.4128	5.027	0.13734	793	0.45818	CAP domain|CAP domain|Cysteine-rich secretory protein, SCP domain;.;CAP domain|CAP domain|Cysteine-rich secretory protein, SCP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.010101	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	144.44	33	chr6	49698387	.	T	C	144.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.124;DP=219;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=1.03;SOR=0.754	GT:AD:DP:GQ:PL	0/1:5,7:12:99:155,0,103	6	0	1	0
chr6	52506129	52506205	GGCTCAGGCTGGGGGTGGGGAAGACTAGACTTACATTCCCTCCAAGATGCTGCGTGGAGCAGAAGCCATTGCATCTT	-	exonic	TRAM2	.	frameshift deletion	TRAM2:NM_012288:exon8:c.627_634del:p.N209Kfs*14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	62.4	33	chr6	52506128	.	CGGCTCAGGCTGGGGGTGGGGAAGACTAGACTTACATTCCCTCCAAGATGCTGCGTGGAGCAGAAGCCATTGCATCTT	C	62.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.65;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=0.524;SOR=0.223	GT:AD:DP:GQ:PL	0/1:4,2:6:73:73,0,161	6	0	1	0
chr6	72097152	72097152	G	T	exonic	RIMS1	.	nonsynonymous SNV	RIMS1:NM_001350412:exon2:c.G368T:p.R123L,RIMS1:NM_001350411:exon3:c.G446T:p.R149L,RIMS1:NM_001350413:exon3:c.G449T:p.R150L,RIMS1:NM_014989:exon3:c.G449T:p.R150L	Cone-rod dystrophy 7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.803	0.1917067265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	2.052e-06	1.362e-06	0	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.998	0.73220	D	0.996	0.84481	D	0.000074	0.52346	D	0.000000	1	0.81001	D	2.23	0.63091	M	-1.07	0.76948	T	-4.18	0.76822	D	0.907	0.93370	0.379	0.88787	D	0.657	0.88076	D	10	0.8702456	0.86287	D	0.191707	0.86200	D	0.803	0.93582	0.597	0.72739	0.946017929153	0.94544	0.4866660581705572	0.48586	1.74582744126	0.90929	0.832928538322	0.87011	D	0.89567	0.97915	D	0.358533	0.87139	D	0.277232	0.86972	D	0.990070521831512	0.80290	D	0.995	0.98400	D	0.47828564	0.65797	0.6994405	0.82294	0.47828564	0.65797	0.6994405	0.82295	-13.427	0.91045	D	.	.	0.978	0.92530	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.020819	0.83447	28.0	0.99859084736911485	0.93729	0.99811	0.99622	D	AEFI	0.929270	0.91477	D	0.967212866433578	0.94643	12.92112	0.926991980407768	0.96645	14.95708	0.999999996948191	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.81	5.81	0.92413	9.834000	0.98333	11.775000	0.95959	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:0.0:1.0:0.0	20.080	0.97771	829	0.39537	.;.;.;.;Zinc finger, FYVE-related|Rab-binding domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	84.44	34	chr6	72097152	.	G	T	84.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.207;DP=232;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.44;ReadPosRankSum=-1.361;SOR=0.569	GT:AD:DP:GQ:PL	0/1:13,6:19:95:95,0,281	6	0	1	0
chr6	75134743	75134743	G	A	exonic	COL12A1	.	nonsynonymous SNV	COL12A1:NM_080645:exon17:c.C2015T:p.T672M,COL12A1:NM_004370:exon32:c.C5507T:p.T1836M	Bethlem myopathy 2	428	1090	4	0	0	4	0.0018315	.	.	.	832382	not_provided|Ullrich_congenital_muscular_dystrophy_2|Bethlem_myopathy_2	MedGen:C3661900|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470,Orphanet:75840|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471,Orphanet:536516,Orphanet:610	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.329	0.0416911763402	8.2e-05	.	4.973e-05	0	0	0	0	6.001e-05	0	0.0001	5.82e-05	9	154602	rs200108494	0.0001	0.0001	9.996e-05	0.0001	0.0005	9.167e-05	8.695e-05	0.0002	0.0002	2.996e-05	4.478e-05	0	5.045e-05	0	0.0005	0.0001	0.0002	0.0003	7.882e-05	8.531e-05	0.0001	4.031e-05	0.0002	4.495e-05	3.511e-05	7.908e-05	5.994e-05	0	0	6.545e-05	0	0	0	0	0.0001	0	0.0002	0.003	0.78490	D	0.001	0.92824	D	0.998	0.73220	D	0.855	0.63802	P	0.000081	0.52346	D	0.083014	0.65741	0.33020	D	2.245	0.63543	M	0.54	0.54911	T	-1.54	0.38924	N	0.544	0.57518	-0.5945	0.65040	T	0.204	0.56114	T	10	0.33586377	0.50737	T	0.041691	0.60062	D	0.329	0.65126	.	.	0.308613300994	0.30479	0.45988704226355265	0.45906	0.54364407429	0.51433	0.629754424095	0.57111	T	0.030871	0.50206	T	-0.19112	0.22095	T	-0.220159	0.52722	T	0.18237537713103	0.19384	T	0.90061	0.65680	D	0.08604228	0.19983	0.14681843	0.34768	0.08604228	0.19982	0.14681843	0.34768	-7.503	0.57695	D	0.5477652911196719	0.61669	0.108	0.22609	B	.;.;.;.;.	.;.;.;.;.	5.455919	0.91107	32	0.99855687392098325	0.93458	0.98808	0.87122	D	AEFBI	0.727083	0.67554	D	0.610200096402295	0.73817	6.028894	0.591183977661491	0.74303	6.114687	0.99999933193915	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	5.87	5.0	0.66209	5.917000	0.69720	9.958000	0.82775	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0679:0.0:0.9321:0.0	15.064	0.71644	845	0.36510	Fibronectin type III;Fibronectin type III;.;.;Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.1429	33.22	33	chr6	75134743	.	G	A	33.22	.	AC=2;AF=0.143;AN=14;DP=205;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr6	79003855	79003855	C	A	exonic	PHIP	.	stopgain	PHIP:NM_017934:exon16:c.G1528T:p.E510X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.919	0.92200	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.227342	0.98643	40	0.99713077563901487	0.81493	0.99295	0.94095	D	AEFBI	0.182122	0.30945	N	1.22173512422762	0.99725	25.82693	1.08832751303885	0.99723	25.79359	0.999999999617022	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.76	5.76	0.90726	7.459000	0.79833	7.720000	0.67265	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.331	0.94276	901	0.24189	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr6	79003855	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=202;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr6	89938176	89938176	T	C	exonic	BACH2	.	nonsynonymous SNV	BACH2:NM_001170794:exon6:c.A2011G:p.I671V,BACH2:NM_021813:exon8:c.A2011G:p.I671V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.757	0.0726052358129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.089	0.40426	T	0.905	0.49920	P	0.416	0.44962	B	0.000001	0.84330	D	0.055191	0.999993	0.58761	D	1.885	0.50048	L	-2.84	0.91305	D	-0.74	0.20791	N	0.696	0.70088	0.659	0.92652	D	0.722	0.90478	D	10	0.49614614	0.61278	T	0.072605	0.71574	D	0.757	0.91710	0.599	0.72984	0.692832967785	0.69019	0.635943796332129	0.63528	0.922122916316	0.71496	0.829206466675	0.86441	D	0.713366	0.91842	D	0.151181	0.69378	D	-0.020616	0.68988	D	0.986052274703979	0.76874	D	0.941606	0.78180	D	0.541496	0.69480	0.497658	0.70953	0.541496	0.69481	0.497658	0.70953	-10.343	0.75939	D	0.7089557794822221	0.78891	0.925	0.84746	P	.;.;.	.;.;.	4.234788	0.64158	24.7	0.99882996106409483	0.95892	0.97688	0.76423	D	AEFBI	0.884516	0.81426	D	0.643895301445434	0.75975	6.401764	0.621765542965966	0.76525	6.506814	0.99999972492454	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.76	4.76	0.60189	8.005000	0.88076	7.911000	0.74030	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	14.447	0.66932	803	0.44167	Basic leucine zipper domain, Maf-type|Basic-leucine zipper domain|Basic-leucine zipper domain;Basic leucine zipper domain, Maf-type|Basic-leucine zipper domain|Basic-leucine zipper domain;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	.	.	.	.	.	.	.	.	0.1429	33.22	20	chr6	89938176	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=183;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr6	107039929	107039929	A	G	exonic	MTRES1	.	nonsynonymous SNV	MTRES1:NM_001142468:exon2:c.A169G:p.T57A,MTRES1:NM_016487:exon2:c.A169G:p.T57A,MTRES1:NM_001142470:exon3:c.A184G:p.T62A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00526385118132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.533	0.06957	T	0.269	0.23365	T	0.002	0.09854	B	0.004	0.10090	B	0.088697	0.20467	N	0.519017	1	0.08975	N	1.67	0.42885	L	1.54	0.30133	T	-0.94	0.25118	N	0.063	0.03502	-1.0423	0.16621	T	0.031	0.13286	T	10	0.06928635	0.09919	T	0.005264	0.13433	T	0.036	0.09122	0.266	0.21261	0.195762928549	0.19159	0.18103985797326233	0.18022	.	.	.	.	.	0.026487	0.19590	T	-0.297446	0.08903	T	-0.665037	0.07931	T	0.0371910110116005	0.03189	T	0.436756	0.11992	T	0.03279244	0.03371	0.028639454	0.01119	0.03279244	0.03371	0.028639454	0.01119	-3.961	0.23218	T	.	.	0.083	0.09191	B	.;.;.	.;.;.	0.808692	0.11794	8.367	0.63459745269753487	0.07229	0.53270	0.29331	D	AEFBI	0.058232	0.10912	N	-0.530866283808925	0.21088	1.116549	-0.437587326701135	0.23902	1.306015	0.0653161179229808	0.15357	0.732398	0.92422	0	0.724815	0.89359	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	6.08	3.74	0.42108	1.361000	0.33740	4.414000	0.43291	-0.054000	0.16847	0.613000	0.27855	1.000000	0.68203	0.447000	0.27828	0.8655:0.0:0.1345:0.0	10.072	0.41510	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	.	.	.	.	.	.	.	.	0.1429	31.83	36	chr6	107039929	.	A	G	31.83	.	AC=2;AF=0.143;AN=14;DP=219;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=31.83;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,1:1:3:1|1:107039929_A_G:45,3,0:107039929	6	1	0	0
chr6	107039939	107039939	A	G	exonic	MTRES1	.	nonsynonymous SNV	MTRES1:NM_001142468:exon2:c.A179G:p.Y60C,MTRES1:NM_016487:exon2:c.A179G:p.Y60C,MTRES1:NM_001142470:exon3:c.A194G:p.Y65C	.	444	1076	2	0	0	2	0.000928505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00449634910182	0.0003	0.000399361	0.0003	0	0.0002	0	0	0.0003	0	0.0007	0.0002587	40	154602	rs148386621	0.0002	0.0002	0.0001	0.0002	0.0007	0.0002	0.0002	0.0006	0.0005	5.974e-05	0.0002	0	0	0	0.0005	0.0002	0.0003	0.0007	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0001	0.0003	0.0002	4.81e-05	0	0.0006	0	0	0	0	0.0002	0.0009	0.0006	0.166	0.23183	T	0.177	0.29740	T	0.0	0.02946	B	0.001	0.04355	B	0.049705	0.23136	N	0.453036	1	0.08975	N	-0.69	0.01958	N	1.54	0.30133	T	-1.08	0.28084	N	0.114	0.10198	-0.9975	0.30618	T	0.014	0.05657	T	10	0.016539961	0.00349	T	0.004496	0.11031	T	0.031	0.07369	.	.	0.202086224978	0.19791	0.1871824141245865	0.18636	.	.	.	.	.	0.034308	0.23270	T	-0.580883	0.00190	T	-0.704582	0.05578	T	0.00907548361155706	0.00114	T	0.225777	0.02969	T	0.040169824	0.05683	0.025228268	0.00561	0.040169824	0.05683	0.025228268	0.00561	-2.961	0.09767	T	.	.	0.051	0.00168	B	.;.;.	.;.;.	0.155708	0.05473	1.939	0.40644746316357777	0.02882	0.05973	0.11933	N	AEBI	0.076168	0.15316	N	-1.05098837216548	0.07568	0.3520148	-1.02882422265538	0.09154	0.4538681	0.00475520385956314	0.10700	0.732398	0.92422	0	0.724815	0.89359	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.86	2.02	0.25641	-0.031000	0.12237	-0.578000	0.08391	-0.066000	0.16423	0.000000	0.06391	0.000000	0.08366	0.034000	0.13613	0.5354:0.1532:0.1639:0.1475	1.182	0.01734	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.1429	71.22	36	chr6	107039939	.	A	G	71.22	.	AC=2;AF=0.143;AN=14;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=37.33;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:107039929_A_G:87,6,0:107039929	6	1	0	0
chr6	116253777	116253777	C	T	exonic	TSPYL4	.	nonsynonymous SNV	TSPYL4:NM_021648:exon1:c.G232A:p.A78T	.	429	1041	49	3	0	55	0.025737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	0.0044	0.0129792	0.0229	0.0009	0.0059	0.0071	0.0325	0.0139	0.0450	0.0669	0.0106984	1654	154602	rs149060725	0.0084	0.0084	0.0070	0.0097	0.0493	0.0082	0.0082	0.0481	0.0476	0.0008	0.0025	0.0255	0.0057	0.0167	0.0155	0.0049	0.0100	0.0493	0.0068	0.0068	0.0056	0.0080	0.0493	0.0064	0.0063	0.0441	0.0422	0.0009	0.0011	0.0030	0.0274	0.0052	0.0183	0.0068	0.0055	0.0080	0.0493	0.305	0.14256	T	0.207	0.26969	T	0.161	0.28372	B	0.118	0.32088	B	.	.	.	.	1	0.08975	N	2.175	0.60977	M	1.77	0.25841	T	-0.83	0.22727	N	0.022	0.00372	-0.9894	0.32753	T	0.025	0.10643	T	9	0.0021468103	0.00031	T	.	.	.	0.008	0.00669	.	.	.	.	0.09797772909747697	0.09728	0.363409992902	0.37971	0.496496468782	0.38339	T	0.013936	0.11958	T	-0.631555	0.00093	T	-0.643456	0.09419	T	0.00689910877604376	0.00078	T	0.455254	0.13018	T	0.028059915	0.02088	0.05842673	0.10794	0.028059915	0.02087	0.05842673	0.10793	-4.297	0.28135	T	.	.	0.075	0.05535	B	.	.	0.426294	0.07970	4.680	0.96140950977137662	0.28835	0.02820	0.07555	N	ALL	0.065604	0.12805	N	-0.80031155198662	0.13302	0.6543555	-0.899478280885214	0.12106	0.6208205	0.999999751623875	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.08	1.13	0.19758	-0.143000	0.10278	0.963000	0.23005	0.524000	0.24156	0.000000	0.06391	0.441000	0.24904	0.126000	0.19410	0.1841:0.4163:0.3996:0.0	6.892	0.23415	559	0.71409	.	.	.	.	.	rs149060725	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016162	0.015306	0.013587	0.000000	0.000000	0.017241	0.006173	0.045455	0.1429	814.24	44	chr6	116253777	.	C	T	814.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.999;DP=379;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=8.95;ReadPosRankSum=-0.707;SOR=0.771	GT:AD:DP:GQ:PL	0/1:5,7:12:99:152,0,105	5	0	2	0
chr6	123352527	123352527	-	T	exonic	TRDN	.	stoploss	TRDN:NM_001251987:exon21:c.1383dupA:p.*462delinsMKEVDIIFFRKTTTCGGKHWIQTGGRQ*	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, Autosomal recessive	6	1512	4	0	0	4	0.001321	.	.	.	229397	Catecholaminergic_polymorphic_ventricular_tachycardia_1|not_specified	MONDO:MONDO:0011484,MedGen:C1631597,OMIM:604772,Orphanet:3286|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0018	0.00179712	0.0007	0.0043	9.741e-05	0.0003	0	0.0003	0.0012	0.0008	0.0003842	10	26028	rs537388823	0.0004	0.0011	0.0004	0.0004	0.0056	0.0004	0.0004	0.0049	0.0047	0.0056	0.0005	7.874e-05	0.0001	1.909e-05	0.0004	0.0003	0.0006	0.0003	0.0015	0.0015	0.0015	0.0015	0.0047	0.0013	0.0013	0.0042	0.0040	0.0047	0	0.0003	0	0.0002	9.615e-05	0	0.0003	0.0024	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	34.4	33	chr6	123352527	.	A	AT	34.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.674;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.6;ReadPosRankSum=0;SOR=0.105	GT:AD:DP:GQ:PL	0/1:2,2:4:45:45,0,45	6	0	1	0
chr6	143433975	143433975	G	-	exonic	ADAT2	.	frameshift deletion	ADAT2:NM_001286259:exon3:c.67delC:p.R23Dfs*47,ADAT2:NM_182503:exon3:c.208delC:p.R70Dfs*47	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	43.4	40	chr6	143433974	.	CG	C	43.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.812;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.82;ReadPosRankSum=-2.2;SOR=0.495	GT:AD:DP:GQ:PL	0/1:7,2:9:54:54,0,256	6	0	1	0
chr6	148543929	148543929	G	A	exonic	SASH1	.	nonsynonymous SNV	SASH1:NM_001346507:exon11:c.G1742A:p.R581Q,SASH1:NM_001346508:exon11:c.G2231A:p.R744Q,SASH1:NM_001346509:exon11:c.G2108A:p.R703Q,SASH1:NM_001346505:exon18:c.G2324A:p.R775Q,SASH1:NM_015278:exon18:c.G2459A:p.R820Q,SASH1:NM_001346506:exon19:c.G2087A:p.R696Q	.	418	1082	22	0	0	22	0.010064	.	.	.	710255	not_provided|Dyschromatosis_universalis_hereditaria_1|Cancer,_alopecia,_pigment_dyscrasia,_onychodystrophy,_and_keratoderma|not_specified	MedGen:C3661900|MONDO:MONDO:0024524,MedGen:C2675711,OMIM:127500|MedGen:C5193062,OMIM:618373|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.218	0.0172446337167	0.0013	0.00219649	0.0016	0.0004	0.0011	0.0001	0.0003	0.0012	0.0044	0.0053	0.0015071	233	154602	rs144633784	0.0016	0.0016	0.0015	0.0018	0.0062	0.0016	0.0015	0.0058	0.0056	0.0001	0.0015	0.0001	2.519e-05	0.0002	0.0052	0.0014	0.0018	0.0062	0.0013	0.0013	0.0012	0.0015	0.0077	0.0012	0.0011	0.0057	0.0051	0.0004	0	0.0016	0	0.0006	0.0003	0.0034	0.0017	0.0028	0.0077	0.002	0.72154	D	0.121	0.47581	T	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.053272	0.999772	0.48980	D	2.125	0.59049	M	0.96	0.42888	T	-1.05	0.27463	N	0.334	0.42443	-0.7446	0.58216	T	0.194	0.54782	T	10	0.0102826655	0.00229	T	0.017245	0.38871	T	0.218	0.51265	.	.	0.77987184126	0.77784	0.4749283720298943	0.47411	0.176476331138	0.19866	0.362321317196	0.19724	T	0.106191	0.41731	T	-0.228314	0.16874	T	-0.0985372	0.63511	T	0.0326058988812123	0.02405	T	0.877812	0.59215	D	0.34333792	0.56544	0.21063916	0.45459	0.32845256	0.55344	0.26970348	0.52853	-6.874	0.53107	T	0.1422885936812735	0.16079	0.089	0.29116	B	.;.	.;.	4.306935	0.65809	24.9	0.99960862353843405	0.99997	0.97960	0.78445	D	AEFBI	0.581725	0.58162	D	0.739948704742311	0.82251	7.716262	0.720014076574633	0.83901	8.144222	0.999999999995787	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.26	5.26	0.73479	5.951000	0.69992	7.627000	0.62562	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	17.054	0.86402	957	0.09725	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.015152	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.07143	139.44	34	chr6	148543929	.	G	A	139.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.07;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.92;ReadPosRankSum=-1.981;SOR=1.981	GT:AD:DP:GQ:PL	0/1:2,5:7:28:150,0,28	6	0	1	0
chr6	152321836	152321836	T	-	exonic	SYNE1	.	frameshift deletion	SYNE1:NM_033071:exon82:c.15755delA:p.K5252Rfs*13,SYNE1:NM_182961:exon83:c.15968delA:p.K5323Rfs*13	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	49.4	34	chr6	152321835	.	CT	C	49.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.645;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=-1.645;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,2:5:60:60,0,97	6	0	1	0
chr6	165413508	165413508	C	A	exonic	PDE10A	.	nonsynonymous SNV	PDE10A:NM_001130690:exon13:c.G1271T:p.C424F,PDE10A:NM_001385079:exon13:c.G2069T:p.C690F,PDE10A:NM_006661:exon14:c.G1241T:p.C414F	Dyskinesia, limb and orofacial, infantile-onset, Autosomal recessive;Striatal degeneration, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.519	0.0534681553146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.15914	B	0.012	0.16012	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.85	0.49092	L	.	.	.	.	.	.	.	.	-0.2816	0.75497	T	0.386	0.74143	T	10	0.6804834	0.71249	D	0.053468	0.65479	D	0.519	0.79522	.	.	0.484294873522	0.48060	0.992610586846299	0.99257	1.2000544037	0.80508	0.947374939919	0.99689	D	0.004611	0.44341	T	0.310316	0.83770	D	0.207971	0.83558	D	0.777307033538818	0.44883	D	0.954605	0.82717	D	0.672397	0.76561	0.5027051	0.71253	0.672397	0.76562	0.5027051	0.71253	-11.831	0.85806	D	.	.	0.853	0.84656	P	.;.;.;.;.;.	.;.;.;.;.;.	4.343015	0.66645	25.0	0.83612001998304963	0.14821	0.98864	0.87871	D	AEFBI	0.953124	0.96916	D	0.50217181588647	0.67218	5.052445	0.595418068433592	0.74609	6.166569	0.999999999012864	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.668105	0.65232	0	.	.	5.63	5.63	0.86108	7.414000	0.79329	7.599000	0.61500	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.710	0.96085	985	0.02828	.;.;.;.;.;GAF 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	.	.	.	.	.	.	.	.	0.1429	33.22	35	chr6	165413508	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr6	166929671	166929671	T	C	exonic	RNASET2	.	nonsynonymous SNV	RNASET2:NM_003730:exon9:c.A688G:p.N230D	Leukoencephalopathy, cystic, without megalencephaly, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00416908728529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	3.826e-05	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.822	0.02997	T	0.691	0.06762	T	0.0	0.02946	B	0.0	0.01387	B	0.010930	0.01290	N	8.658090	1	0.08975	N	-0.49	0.02651	N	-0.0	0.62608	T	1.09	0.01369	N	0.065	0.09066	-1.0681	0.09836	T	0.029	0.12541	T	10	0.036616474	0.01970	T	0.004169	0.10026	T	0.033	0.08068	0.295	0.25881	0.231231049324	0.22751	0.4032183403297992	0.40237	0.259623980791	0.28522	0.263087540865	0.05263	T	0.005106	0.09096	T	-0.267462	0.12042	T	-0.621967	0.11032	T	0.0527863316237926	0.05982	T	0.221078	0.02846	T	0.037941933	0.04961	0.04012519	0.04266	0.037941933	0.04960	0.04012519	0.04266	-2.171	0.03902	T	.	.	0.052	0.00767	B	.;.;.;.;.	.;.;.;.;.	-0.775416	0.01156	0.055	0.38710642929105304	0.02627	0.00926	0.03595	N	AEFDBCI	0.041149	0.06218	N	-1.60720347023567	0.01228	0.05343935	-1.5773134965913	0.01794	0.08168961	0.953618560608439	0.28083	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.45	-0.612	0.11016	-0.586000	0.05880	-3.649000	0.02631	-0.876000	0.02500	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4748:0.0:0.5252	7.595	0.27209	994	0.00715	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	36	chr6	166929671	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr7	1540299	1540299	C	A	exonic	MAFK	.	nonsynonymous SNV	MAFK:NM_002360:exon3:c.C395A:p.A132D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.584	0.40344990056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.096	0.39340	T	0.914	0.50529	P	0.642	0.52168	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.65	0.77586	M	-1.84	0.84195	D	-0.93	0.24898	N	0.646	0.65758	0.277	0.87191	D	0.635	0.87219	D	10	0.75450873	0.75881	D	0.40345	0.93447	D	0.584	0.83305	0.317	0.29419	0.757612209115	0.75540	0.9242790718862596	0.92404	2.15008403777	0.95306	0.858042120934	0.90821	D	0.073788	0.34783	T	0.356224	0.86960	D	0.273915	0.86789	D	0.898849546909332	0.55103	D	0.935906	0.76011	D	0.38324872	0.59551	0.44439885	0.67623	0.38324872	0.59551	0.44439885	0.67623	-6.165	0.47639	T	.	.	0.587	0.68334	P	.;.	.;.	4.834938	0.78885	27.0	0.99571423135573134	0.72440	0.98289	0.81299	D	AEFGBCI	0.727749	0.67599	D	0.55387624343097	0.70319	5.484041	0.569247043462187	0.72746	5.858789	1.0	0.98316	0.631515	0.41029	0	0.697927	0.68747	0	0.723109	0.80598	0	0.636168	0.56350	0	.	.	5.1	5.1	0.68917	5.918000	0.69728	5.929000	0.51288	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:1.0:0.0:0.0	18.549	0.91011	774	0.48577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr7	1540299	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr7	2590010	2590010	G	T	exonic	IQCE	.	nonsynonymous SNV	IQCE:NM_001287501:exon12:c.G953T:p.R318L,IQCE:NM_001287502:exon12:c.G953T:p.R318L,IQCE:NM_001287500:exon13:c.G1100T:p.R367L,IQCE:NM_001287499:exon14:c.G1148T:p.R383L,IQCE:NM_152558:exon14:c.G1148T:p.R383L	.	423	1095	2	0	2	4	0.000912409	.	.	.	3210133	not_provided|IQCE-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.074	0.00494352730669	0.0017	0.00159744	0.0035	0.0002	0.0009	0	0.0092	0.0051	0.0034	0.0004	0.0033117	512	154602	rs180961841	0.0033	0.0033	0.0035	0.0032	0.0035	0.0032	0.0032	0.0034	0.0034	0.0004	0.0010	0.0082	0	0.0079	0.0021	0.0035	0.0038	0.0004	0.0027	0.0027	0.0026	0.0029	0.0034	0.0025	0.0024	0.0030	0.0029	0.0004	0.0110	0.0010	0.0101	0	0.0092	0	0.0034	0.0033	0.0002	0.026	0.49117	D	0.103	0.52727	T	0.964	0.55854	D	0.467	0.46683	P	0.119803	0.02715	N	1.816500	1	0.08975	N	1.445	0.36358	L	2.7	0.12371	T	-2.0	0.46146	N	0.139	0.15046	-0.9968	0.30810	T	0.026	0.10954	T	10	0.0053347647	0.00117	T	0.004944	0.12442	T	0.074	0.21613	.	.	0.263140351381	0.25927	0.18624519883211713	0.18542	0.294894175006	0.31902	0.293088048697	0.09374	T	0.016208	0.26014	T	-0.548238	0.00299	T	-0.560563	0.16325	T	0.0114852355907931	0.00173	T	0.730127	0.39899	T	0.06988623	0.15349	0.06927493	0.14574	0.06981632	0.15328	0.08607767	0.19918	-2.073	0.04533	T	.	.	0.096	0.19478	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.106742	0.14913	11.44	0.89514019597272321	0.18861	0.05893	0.11843	N	AEFDGBI	0.065911	0.12882	N	-0.900490830751013	0.10831	0.5195431	-1.12198730782317	0.07281	0.3535746	0.347912696949542	0.19652	0.651	0.46895	0	0.694456	0.67091	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	5.15	-4.19	0.03573	-0.792000	0.04700	-0.647000	0.08048	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.3742:0.3829:0.2429:0.0	6.244	0.20020	895	0.25842	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.000506	0.000000	0.000000	0.000000	0.000000	0.000000	0.003086	0.000000	0.07143	89.44	35	chr7	2590010	.	G	T	89.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.887;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=0.439;SOR=0.799	GT:AD:DP:GQ:PL	0/1:3,5:8:35:100,0,35	6	0	1	0
chr7	16421256	16421256	C	A	exonic	CRPPA	.	nonsynonymous SNV	CRPPA:NM_001101417:exon1:c.G67T:p.G23C,CRPPA:NM_001101426:exon1:c.G67T:p.G23C,CRPPA:NM_001368197:exon1:c.G67T:p.G23C	.	4	1517	1	0	0	1	0.000329489	.	.	.	252664	not_provided|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_7|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2U|not_specified	MedGen:C3661900|MONDO:MONDO:0013835,MedGen:C3553330,OMIM:614643,Orphanet:899|MONDO:MONDO:0014474,MedGen:C5190987,OMIM:616052,Orphanet:352479|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.406	.	.	0.00179712	0.0025	0.0192	0	0	.	0	0	0	0.0001552	24	154602	rs187484645	0.0003	0.0003	0.0003	0.0003	0.0104	0.0002	0.0002	0.0093	0.0089	0.0104	0.0013	0	0	0	0.0008	7.313e-06	0.0008	5.219e-05	0.0030	0.0030	0.0031	0.0029	0.0100	0.0028	0.0027	0.0092	0.0089	0.0100	0	0.0018	0	0	0	0	4.415e-05	0.0052	0	0.003	0.68238	D	0.008	0.67890	D	0.999	0.77913	D	0.908	0.64494	P	0.005769	0.32522	U	0.112873	0.999999	0.08975	N	0	0.06538	N	-2.3	0.87671	D	-1.32	0.32991	N	0.259	0.29889	-0.4070	0.71805	T	0.412	0.76013	T	10	0.007257074	0.00165	T	.	.	.	0.406	0.71869	.	.	0.607763699848	0.60461	0.3266648430144761	0.32579	0.31356799062	0.33647	0.739612936974	0.72916	T	0.00892	0.08152	T	-0.258921	0.13026	T	-0.136737	0.60400	T	0.0612600146241787	0.07366	T	0.522748	0.17058	T	0.24165773	0.47084	0.22334473	0.47210	0.2986891	0.52787	0.25757986	0.51476	-5.736	0.45307	T	.	.	0.122	0.27583	B	.;.	.;.	2.698949	0.35250	19.85	0.99662192690616036	0.78011	0.62254	0.31726	D	AEFDBHCIJ	0.069808	0.13833	N	-0.0304149960621994	0.40483	2.404802	-0.145443626852849	0.33583	1.922607	0.99999999966789	0.74766	0.437478	0.07067	0	0.491552	0.07993	0	0.606814	0.37721	0	0.249971	0.05119	0	.	.	3.97	3.97	0.45241	0.305000	0.19006	0.854000	0.22166	0.518000	0.23583	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.9007:0.0:0.0992	9.391	0.37535	942	0.12992	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007026	0.000000	0.016807	0.013761	0.000000	0.000000	0.000000	0.000000	0.1429	73.0	21	chr7	16421256	.	C	A	73.0	.	AC=2;AF=0.143;AN=14;DP=170;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=24.33;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,3:3:9:91,9,0	6	1	0	0
chr7	20409708	20409708	A	G	exonic	ITGB8	.	nonsynonymous SNV	ITGB8:NM_002214:exon13:c.A2117G:p.Q706R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.0126522439089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.859e-07	6.841e-07	0	1.378e-06	2.996e-05	0	0	.	.	2.996e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.83	0.02913	T	0.828	0.03750	T	0.979	0.59044	D	0.604	0.50922	P	0.000009	0.62929	D	0.000000	0.999957	0.52396	D	0.695	0.17993	N	0.82	0.48142	T	-0.17	0.09627	N	0.669	0.74826	-0.8560	0.51548	T	0.160	0.49463	T	10	0.68027294	0.71237	D	0.012652	0.31409	T	0.209	0.49871	0.297	0.26202	0.903858990941	0.90290	0.6274071733814277	0.62673	0.478837058199	0.46943	0.624047994614	0.56301	T	0.211235	0.57195	T	0.195225	0.73447	D	0.0426513	0.73102	D	0.862199604511261	0.51252	D	0.79772	0.44184	T	0.17436367	0.38236	0.14047283	0.33483	0.17436367	0.38235	0.14047283	0.33483	-6.007	0.50556	T	.	.	0.306	0.53495	B	.;.	.;.	3.488707	0.48758	22.7	0.99706054772619024	0.81005	0.97149	0.72977	D	AEFBI	0.732266	0.67908	D	0.575325232318842	0.71638	5.681244	0.642938689559077	0.78087	6.805972	0.999992234034168	0.74766	0.651	0.46895	0	0.601575	0.49859	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	6.06	6.06	0.98340	6.424000	0.73282	11.275000	0.91537	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	16.609	0.84711	659	0.61982	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	35	chr7	20409708	.	A	G	33.22	.	AC=2;AF=0.143;AN=14;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr7	47829595	47829595	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6565G:p.L2189V	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00127835857952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	0.06381	T	0.161	0.31326	T	0.067	0.23653	B	0.015	0.17295	B	0.800789	0.06768	N	1.139820	1	0.08975	N	1.32	0.33002	L	2.05	0.20664	T	-0.76	0.21215	N	0.077	0.05162	-0.9874	0.33249	T	0.034	0.14683	T	10	0.047335982	0.04037	T	0.001278	0.01759	T	0.025	0.05312	0.437	0.48993	0.0884992946249	0.08302	0.058640025517176016	0.05805	0.097110365055	0.10970	0.267502307892	0.05817	T	0.053076	0.29342	T	-0.296889	0.08955	T	-0.664237	0.07983	T	0.0382535461650476	0.03377	T	0.442656	0.12286	T	0.04340317	0.06758	0.03085182	0.01594	0.04340317	0.06758	0.03085182	0.01594	-2.84	0.08557	T	0.18439717788962887	0.23915	0.085	0.10352	B	.	.	0.333476	0.07071	3.643	0.89928721472256545	0.19227	0.00981	0.03737	N	AEFDBI	0.033246	0.03905	N	-0.949154353178447	0.09711	0.4608325	-1.01287491586493	0.09502	0.4730853	0.999972890798845	0.50053	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	-2.48	0.06052	-0.913000	0.04150	-0.189000	0.11056	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.901000	0.43729	0.4609:0.1887:0.1891:0.1613	0.856	0.01107	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	453.83	72	chr7	47829595	.	G	C	453.83	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-2.551;DP=502;ExcessHet=2.5225;FS=302.8;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.01;ReadPosRankSum=0.904;SOR=8.862	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,2:4:38:0|1:47829595_G_C:38,0,47:47829595	1	0	4	2
chr7	47829596	47829596	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6564G:p.C2188W	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00311672116924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.184	0.29056	T	0.995	0.67487	D	0.547	0.49095	P	0.460342	0.12399	N	0.747174	0.999995	0.08975	N	1.67	0.42885	L	2.15	0.19311	T	-2.36	0.52128	N	0.296	0.33469	-1.0591	0.11981	T	0.048	0.20672	T	10	0.36171162	0.52784	T	0.003117	0.06786	T	0.080	0.23350	0.552	0.66856	0.273070737957	0.26916	0.2536045200721503	0.25274	0.410098164805	0.41806	0.397005200386	0.24651	T	0.34704	0.71522	T	-0.171564	0.25000	T	-0.484216	0.23999	T	0.452246865480397	0.30879	T	0.463454	0.13490	T	0.08204342	0.18882	0.115264766	0.27824	0.08204342	0.18881	0.115264766	0.27823	-7.376	0.56735	T	0.21312292306990016	0.28611	0.462	0.62816	A	.	.	2.025831	0.25746	16.87	0.98535746284117109	0.42657	0.03107	0.08041	N	AEFDBI	0.085021	0.17234	N	-0.32621816442702	0.28156	1.55065	-0.474339133563733	0.22864	1.243968	0.99995617926297	0.48110	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	1.54	0.22290	0.128000	0.15636	1.147000	0.24451	0.676000	0.76740	0.000000	0.06391	0.003000	0.18671	0.870000	0.41412	0.3084:0.0:0.6916:0.0	6.370	0.20682	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1400.92	70	chr7	47829596	.	G	C	1400.92	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.226;DP=584;ExcessHet=14.2834;FS=320.552;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=2.96;ReadPosRankSum=0.688;SOR=10.536	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,2:4:38:0|1:47829595_G_C:38,0,47:47829595	0	0	7	0
chr7	74065720	74065720	G	A	exonic	ELN	.	nonsynonymous SNV	ELN:NM_001278913:exon26:c.G1777A:p.A593T,ELN:NM_001278918:exon26:c.G1753A:p.A585T,ELN:NM_001278916:exon27:c.G1876A:p.A626T,ELN:NM_001081752:exon28:c.G1933A:p.A645T,ELN:NM_001278914:exon28:c.G1948A:p.A650T,ELN:NM_001081753:exon29:c.G1978A:p.A660T,ELN:NM_001081755:exon29:c.G1963A:p.A655T,ELN:NM_001278917:exon29:c.G1990A:p.A664T,ELN:NM_000501:exon30:c.G2020A:p.A674T,ELN:NM_001081754:exon30:c.G2035A:p.A679T,ELN:NM_001278912:exon30:c.G2020A:p.A674T,ELN:NM_001278915:exon30:c.G2038A:p.A680T,ELN:NM_001278939:exon31:c.G2206A:p.A736T	Cutis laxa, AD, Autosomal dominant;Supravalvar aortic stenosis, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	1007613	Supravalvar_aortic_stenosis|ELN-related_disorder	Human_Phenotype_Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500,Orphanet:3193|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.127	0.388863386305	.	.	4.121e-05	0	0	0	0	7.498e-05	0	0	3.23e-05	5	154602	rs782535492	3.352e-05	3.352e-05	3.131e-05	3.575e-05	0.0024	2.566e-05	2.312e-05	0.0015	0.0012	0	0	0	0	0	0.0024	2.788e-05	6.623e-05	0	2.631e-05	2.627e-05	0	5.386e-05	2.941e-05	8.15e-06	5.15e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0.0034	2.941e-05	0.0005	0	0.0	0.91255	D	0.039	0.62352	D	0.996	0.68779	D	0.99	0.78936	D	.	.	.	.	0.601481	0.34033	D	1.845	0.48678	L	1.22	0.47815	T	-1.26	0.36787	N	0.305	0.59816	-0.6417	0.63073	T	0.224	0.58869	T	8	0.29724443	0.47286	T	0.388863	0.93142	D	0.127	0.34888	0.21	0.12781	0.710848232195	0.70832	0.42078190391326803	0.41994	0.176122680716	0.19825	0.700938165188	0.67278	T	0.123085	0.69911	T	-0.0255269	0.48061	T	-0.166787	0.57738	T	0.671100080013275	0.39387	D	0.478452	0.14445	T	0.09440112	0.22193	0.3509199	0.60694	0.09440112	0.22193	0.3509199	0.60693	-11.485	0.84881	D	.	.	0.562	0.70040	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.500295	0.70384	25.5	0.98267278045501005	0.39722	0.81205	0.40658	D	AEFDBHCI	0.589600	0.58642	D	0.270334993267994	0.54652	3.630231	0.175956416161535	0.48533	3.067967	0.988253700005989	0.31455	0.0	0.00013	3	0.547309	0.14657	0	0.584781	0.30282	0	0.613276	0.41899	0	.	.	3.43	3.43	0.38372	4.704000	0.61519	10.954000	0.84418	0.612000	0.49041	1.000000	0.71638	1.000000	0.68203	0.511000	0.29267	0.0:0.0:1.0:0.0	10.708	0.45166	900	0.24599	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	169.44	42	chr7	74065720	.	G	A	169.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.07;DP=242;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=-0.263;SOR=0.446	GT:AD:DP:GQ:PL	0/1:5,6:11:94:180,0,94	6	0	1	0
chr7	76433481	76433481	G	A	exonic	ZP3	.	nonsynonymous SNV	ZP3:NM_001110354:exon4:c.G547A:p.A183T,ZP3:NM_007155:exon5:c.G394A:p.A132T	.	435	1083	4	0	0	4	0.00184332	.	.	.	700230	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.172	.	0.0039	0.00658946	0.0073	0.0009	0.0204	0	0.0064	0.0081	0.0046	0.0033	0.0076066	1176	154602	rs74676082	0.0060	0.0060	0.0062	0.0058	0.0282	0.0059	0.0059	0.0269	0.0264	0.0012	0.0282	0.0184	2.519e-05	0.0085	0.0007	0.0054	0.0056	0.0026	0.0089	0.0089	0.0080	0.0099	0.0426	0.0085	0.0084	0.0399	0.0388	0.0013	0.0362	0.0426	0.0187	0	0.0074	0	0.0066	0.0066	0.0033	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.003	0.08700	B	0.950871	0.07655	N	1.021960	1	0.08975	N	-0.435	0.02851	N	-1.47	0.81067	T	0.73	0.02368	N	0.074	0.04790	-1.0251	0.22050	T	0.056	0.23715	T	10	0.002967745	0.00048	T	.	.	.	0.172	0.43662	.	.	0.238705975628	0.23479	0.4291684088172849	0.42833	0.0147752663193	0.01401	0.224459990859	0.01583	T	0.088422	0.38154	T	-0.482586	0.00714	T	-0.445706	0.28172	T	0.00304775342549733	0.00032	T	0.648535	0.25952	T	0.0216817	0.00783	0.0378954	0.03540	0.027935153	0.02056	0.0378954	0.03540	-4.201	0.26766	T	0.08971481169315887	0.05512	0.066	0.03625	B	.;.;.	.;.;.	-1.245718	0.00487	0.011	0.21507353066344989	0.00822	0.00953	0.03666	N	AEFBI	0.028198	0.02440	N	-2.09854880273033	0.00129	0.005528065	-2.17464952740976	0.00127	0.005604068	0.999999981887582	0.74766	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.567892	0.33627	0	.	.	5.4	-10.8	0.00171	-2.481000	0.01058	-3.382000	0.02829	-1.373000	0.01168	0.000000	0.06391	0.000000	0.08366	0.333000	0.25271	0.5092:0.0732:0.1109:0.3067	3.818	0.08339	886	0.28090	.;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain;Zona pellucida 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	0.001008	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.003788	0.1429	33.22	34	chr7	76433481	.	G	A	33.22	.	AC=2;AF=0.143;AN=14;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr7	91874600	91874600	G	A	exonic	MTERF1	.	nonsynonymous SNV	MTERF1:NM_001301134:exon2:c.C134T:p.T45I,MTERF1:NM_006980:exon3:c.C194T:p.T65I,MTERF1:NM_001301135:exon4:c.C134T:p.T45I	.	435	1028	56	3	0	62	0.0292729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0040	0.00559105	0.0068	0.0008	0.0039	0	0.0008	0.0054	0.0077	0.0246	0.0063777	986	154602	rs144315661	0.0060	0.0061	0.0053	0.0068	0.0242	0.0059	0.0059	0.0234	0.0230	0.0007	0.0049	0.0093	2.519e-05	0.0009	0.0189	0.0051	0.0065	0.0242	0.0037	0.0037	0.0036	0.0038	0.0193	0.0034	0.0033	0.0161	0.0150	0.0008	0.0022	0.0046	0.0078	0.0004	0.0005	0.0136	0.0046	0.0057	0.0193	0.022	0.53172	D	0.056	0.48336	T	0.0	0.02946	B	0.0	0.01387	B	0.248325	0.03630	N	1.642570	1	0.08975	N	.	.	.	2.14	0.19588	T	-1.41	0.46673	N	0.065	0.06454	-1.0217	0.23162	T	0.016	0.06616	T	10	0.0039517283	0.00076	T	.	.	.	0.038	0.09825	.	.	0.132336055621	0.12781	0.2644336759851309	0.26356	0.0143366314817	0.01361	0.268318295479	0.05923	T	0.04567	0.28255	T	-0.603668	0.00139	T	-0.620979	0.11108	T	0.000724357750141172	0.00007	T	0.316468	0.06291	T	0.072079584	0.16005	0.06939085	0.14615	0.072079584	0.16005	0.06939085	0.14614	-3.658	0.18700	T	.	.	0.085	0.13644	B	.;.;.;.;.	.;.;.;.;.	-0.333427	0.02474	0.287	0.96019872344555135	0.28471	0.08748	0.14631	N	AEFBI	0.060282	0.11445	N	-1.29027437057803	0.03791	0.1700041	-1.3719998385924	0.03553	0.1659791	0.267473086559066	0.18856	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.23	-5.02	0.02759	-0.051000	0.11840	0.012000	0.13456	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1521:0.15:0.2022:0.4958	2.209	0.03702	144	0.94257	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012085	0.005051	0.008152	0.002924	0.000000	0.008621	0.018293	0.037879	0.07143	110.44	33	chr7	91874600	.	G	A	110.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.383;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.41;ReadPosRankSum=0.21;SOR=0.707	GT:AD:DP:GQ:PL	0/1:1,5:6:25:121,0,25	6	0	1	0
chr7	93105694	93105694	-	AACCTTT	exonic	SAMD9	.	stopgain	SAMD9:NM_001193307:exon2:c.403_404insAAAGGTT:p.S135*,SAMD9:NM_017654:exon3:c.403_404insAAAGGTT:p.S135*	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	3	1512	7	0	0	7	0.00230947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.238e-06	0	0	0	0	1.498e-05	0	0	3.84e-05	1	26028	rs757780367	2.052e-06	2.052e-06	0	4.125e-06	0.0003	5.5e-07	1.5e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	55.4	44	chr7	93105694	.	G	GAACCTTT	55.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.366;DP=268;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.92;ReadPosRankSum=-1.611;SOR=0.307	GT:AD:DP:GQ:PL	0/1:6,2:8:66:66,0,246	6	0	1	0
chr7	95592889	95592889	T	C	exonic	PDK4	.	nonsynonymous SNV	PDK4:NM_002612:exon4:c.A400G:p.M134V	.	437	1034	49	2	0	53	0.0249882	.	.	.	722756	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.249	.	0.0033	0.00858626	0.0067	0.0013	0.0035	0.0001	0.0003	0.0069	0.0089	0.0174	0.0065394	1011	154602	rs144262262	0.0051	0.0051	0.0046	0.0056	0.0397	0.0050	0.0050	0.0355	0.0339	0.0015	0.0047	0.0445	0	0.0004	0.0397	0.0035	0.0081	0.0158	0.0049	0.0049	0.0048	0.0050	0.0161	0.0046	0.0045	0.0133	0.0122	0.0008	0.0077	0.0088	0.0450	0.0002	0.0008	0.0308	0.0044	0.0099	0.0161	0.076	0.34269	T	0.135	0.34124	T	0.565	0.38434	P	0.729	0.55225	P	0.000000	0.84330	D	0.033626	1	0.81001	D	2.135	0.59519	M	1.41	0.33412	T	-3.65	0.69950	D	0.838	0.83371	-0.9886	0.32953	T	0.091	0.34847	T	10	0.015191466	0.00319	T	.	.	.	0.249	0.55752	.	.	0.47290127212	0.46918	0.8276107065165884	0.82719	0.475302677234	0.46711	0.502338647842	0.39154	T	0.492506	0.81643	T	-0.218354	0.18219	T	-0.0734536	0.65379	T	0.0402720909980972	0.03740	T	0.962404	0.85901	D	0.7293651	0.79687	0.6762805	0.80990	0.7293651	0.79689	0.6762805	0.80990	-6.626	0.51251	T	.	.	0.178	0.38836	B	.	.	4.667868	0.74577	26.2	0.97712210610986427	0.35501	0.92415	0.55659	D	AEFGBCI	0.911945	0.87192	D	0.518253502972479	0.68171	5.180456	0.563569092563689	0.72348	5.795517	0.999999999249284	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.54	5.54	0.82907	6.221000	0.72188	7.885000	0.72726	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.0:1.0	15.992	0.80010	889	0.27310	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.025680	0.025253	0.016304	0.070175	0.000000	0.068966	0.009146	0.011364	0.1429	1149.24	102	chr7	95592889	.	T	C	1149.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.26;DP=283;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=-1.255;SOR=0.699	GT:AD:DP:GQ:PL	0/1:4,5:9:72:111,0,72	5	0	2	0
chr7	100805509	100805509	C	A	exonic	EPHB4	.	nonsynonymous SNV	EPHB4:NM_004444:exon15:c.G2670T:p.E890D	.	377	1137	8	0	0	8	0.0035057	.	.	.	699702	Cardiovascular_phenotype|not_provided	MedGen:CN230736|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.143	0.0182051889826	0.0067	0.00259585	0.0064	0.0019	0.0049	0	0.0021	0.0091	0.0051	0.0032	0.0060931	942	154602	rs35638378	0.0078	0.0076	0.0078	0.0078	0.0091	0.0077	0.0076	0.0090	0.0089	0.0014	0.0046	0.0036	0	0.0018	0.0031	0.0091	0.0068	0.0024	0.0053	0.0053	0.0058	0.0049	0.0092	0.0050	0.0049	0.0086	0.0084	0.0019	0.0044	0.0039	0.0023	0	0.0012	0	0.0092	0.0047	0.0025	0.587	0.05862	T	0.625	0.07316	T	0.002	0.09854	B	0.007	0.12992	B	0.002303	0.36806	N	0.120844	0.958929	0.27374	N	0.515	0.13537	N	-1.01	0.76168	T	-0.48	0.15379	N	0.175	0.23125	-1.0193	0.23943	T	0.116	0.41053	T	10	0.0047655404	0.00101	T	0.018205	0.40197	T	0.143	0.38195	0.084	0.00795	0.348910101417	0.34498	0.5132118340668567	0.51243	0.427416486796	0.43086	0.637738883495	0.58243	T	0.070282	0.33921	T	-0.476236	0.00778	T	-0.450034	0.27695	T	0.00490450620202404	0.00053	T	0.678032	0.38090	T	0.066324286	0.14260	0.036866106	0.03221	0.060663726	0.12474	0.036866106	0.03220	-4.037	0.24355	T	0.15417632825612199	0.18394	0.072	0.04198	B	.;.	.;.	1.938419	0.24623	16.46	0.94408735287075107	0.24805	0.88769	0.48857	D	AEFBI	0.469604	0.51591	N	-0.785332829041428	0.13692	0.6763073	-0.587351136346425	0.19823	1.06526	0.992766636690714	0.32960	0.722319	0.85440	0	0.588066	0.40923	0	0.697927	0.64325	0	0.735409	0.98432	0	.	.	5.28	2.33	0.27981	0.102000	0.15108	2.239000	0.31595	-0.186000	0.09761	0.680000	0.28438	1.000000	0.68203	0.973000	0.55318	0.0:0.5648:0.1653:0.2699	4.403	0.10825	650	0.62973	Sterile alpha motif domain;Protein kinase domain	.	.	.	.	rs35638378	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007553	0.000000	0.008152	0.002924	0.000000	0.000000	0.006098	0.011364	0.07143	70.44	37	chr7	100805509	.	C	A	70.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,4:6:31:81,0,31	6	0	1	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	.	.	.	.	.	.	.	.	0.08333	35.23	522	chr7	100953071	.	C	T	35.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.171;DP=3997;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=57.29;MQRankSum=0.852;QD=1.17;ReadPosRankSum=-1.212;SOR=1.138	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,3:30:45:0|1:100952942_T_G:45,0,1125:100952942	5	0	1	1
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	2524.47	366	chr7	100953156	.	C	*	2524.47	.	AC=5;AF=0.357;AN=14;BaseQRankSum=5.53;DP=2898;ExcessHet=14.2834;FS=12.235;MLEAC=5;MLEAF=0.357;MQ=57.21;MQRankSum=-14.31;QD=0.88;ReadPosRankSum=-1.217;SOR=1.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,2:23:24:0|1:100953098_G_C:24,0,834:100953098	2	0	5	0
chr7	100953158	100953158	G	0	exonic	MUC3A	.	.	.	.	651	699	39	0	133	172	0.0271399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1571.47	359	chr7	100953158	.	G	*	1571.47	.	AC=5;AF=0.357;AN=14;BaseQRankSum=3.2;DP=2855;ExcessHet=14.2834;FS=12.608;MLEAC=5;MLEAF=0.357;MQ=57.2;MQRankSum=-14.61;QD=0.57;ReadPosRankSum=-1.192;SOR=1.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,2:23:24:0|1:100953098_G_C:24,0,834:100953098	2	0	5	0
chr7	100953490	100953490	G	0	exonic	MUC3A	.	.	.	.	745	492	219	17	49	302	0.204527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	12099.8	666	chr7	100953490	.	G	*	12099.8	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.506;DP=5156;ExcessHet=8.2628;FS=0;MLEAC=1;MLEAF=0.071;MQ=57.2;MQRankSum=-14.56;QD=2.89;ReadPosRankSum=6.71;SOR=0.734	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,8:47:42:0|1:100953486_C_A:240,0,1320:100953486	6	0	1	0
chr7	100953494	100953494	C	0	exonic	MUC3A	.	.	.	.	798	546	139	16	23	194	0.135392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1169.06	654	chr7	100953494	.	C	*	1169.06	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.061;DP=5142;ExcessHet=2.5225;FS=0.783;MLEAC=2;MLEAF=0.143;MQ=57.15;MQRankSum=-6.171;QD=0.47;ReadPosRankSum=-1.281;SOR=0.62	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,9:48:99:0|1:100953471_A_C:276,0,1401:100953471	5	0	2	0
chr7	100953548	100953548	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1769T:p.T590I	.	874	413	160	24	51	259	0.201161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1357514460	0.0006	0.0062	0.0004	0.0007	0.0021	0.0005	0.0005	0.0013	0.0010	0.0003	0.0006	0.0002	4.417e-05	0.0005	0.0006	0.0006	0.0004	0.0021	2.746e-05	0.0091	1.343e-05	4.212e-05	0.0004	8.42e-06	5.33e-06	7.232e-05	3.008e-05	0	0	6.811e-05	0	0.0004	9.921e-05	0	0	0	0	.	.	.	0.033	0.53072	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.01421	.	.	.	.	.	.	.	0.117088854	0.22104	T	.	.	.	.	.	.	.	.	.	0.03503252016017476	0.03450	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347765	0.07665	T	.	.	.	.	.	.	.	.	-7.218	0.55610	T	.	.	0.207	0.43352	B	.;.	.;.	1.622838	0.20726	14.88	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.220000	0.32095	0.001000	0.13291	0.470000	0.21925	0.001000	0.13787	0.000000	0.08366	0.044000	0.14658	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	15407.9	706	chr7	100953548	.	C	T	15407.9	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.57;DP=5761;ExcessHet=8.2628;FS=2.602;MLEAC=2;MLEAF=0.143;MQ=55.46;MQRankSum=-6.569;QD=3.05;ReadPosRankSum=5.42;SOR=0.839	GT:AD:DP:GQ:PL	0/1:36,10:52:99:312,0,1482	5	0	2	0
chr7	100953580	100953580	T	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.T1801G:p.F601V	.	771	720	29	2	0	33	0.0224033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0024	0.0001	0.0001	0.0004	9.336e-05	8.193e-05	0.0001	6.845e-05	0.0001	0.0003	0.0001	0	0.0002	0	0.0001	0.0001	0.0004	1.347e-05	0.0081	0	2.758e-05	0.0002	2.24e-06	8.4e-07	.	.	0	0	0	0	0.0002	0	0.0036	0	0	0	.	.	.	0.407	0.14818	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.01498	.	.	.	.	.	.	.	0.07435861	0.11356	T	.	.	.	.	.	.	.	.	.	0.03639408987963097	0.03586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266973	0.04402	T	.	.	.	.	.	.	.	.	-6.594	0.51007	T	.	.	0.156	0.34514	B	.;.	.;.	0.100440	0.05021	1.572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.522000	0.06323	-4.554000	0.02098	-0.287000	0.06331	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	51.44	726	chr7	100953580	.	T	G	51.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.2;DP=5709;ExcessHet=0;FS=1.848;MLEAC=1;MLEAF=0.071;MQ=54.83;MQRankSum=0.944;QD=0.95;ReadPosRankSum=2.43;SOR=0.897	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,5:54:62:0|1:100953507_C_G:62,0,2042:100953507	6	0	1	0
chr7	100953605	100953605	C	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1826G:p.P609R	.	802	698	11	1	10	23	0.0092264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.672e-06	0.0002	7.504e-06	0	5.745e-06	0	0	.	.	0	0	0	0	0	0	5.745e-06	0	0	0	2.669e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.12627	.	.	.	.	.	.	.	0.1168302	0.22049	T	.	.	.	.	.	.	.	.	.	0.028168692307800357	0.02766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327267	0.06786	T	.	.	.	.	.	.	.	.	-7.633	0.58541	D	.	.	0.151	0.33435	B	.;.	.;.	1.428387	0.18460	13.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.461000	0.21651	-0.445000	0.09135	0.483000	0.22176	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	79.44	687	chr7	100953605	.	C	G	79.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.48;DP=5392;ExcessHet=0;FS=5.845;MLEAC=1;MLEAF=0.071;MQ=54.77;MQRankSum=-1.189;QD=1.77;ReadPosRankSum=0;SOR=1.863	GT:AD:DP:GQ:PL	0/1:40,5:48:90:90,0,1665	6	0	1	0
chr7	100953625	100953625	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1846T:p.P616S	.	801	715	5	1	0	7	0.00487126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1403432548	0	3.499e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.119e-05	0.0001	0	2.267e-05	0.0003	0	0	.	.	0	0	0	0	0.0003	0	0	0	0	0	.	.	.	0.582	0.08476	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.06587	.	.	.	.	.	.	.	0.06737754	0.09379	T	.	.	.	.	.	.	.	.	.	0.0709963202969652	0.07036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387861	0.09571	T	.	.	.	.	.	.	.	.	-5.552	0.42351	T	.	.	0.144	0.31683	B	.;.	.;.	0.772324	0.11424	8.032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.624000	0.02141	-6.914000	0.01275	-0.325000	0.05822	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	41.23	560	chr7	100953625	.	C	T	41.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.343;DP=5330;ExcessHet=0;FS=2.02;MLEAC=1;MLEAF=0.083;MQ=54.99;MQRankSum=0.653;QD=0.96;ReadPosRankSum=-0.46;SOR=1.238	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,4:43:51:0|1:100953507_C_G:51,0,1626:100953507	5	0	1	1
chr7	100955870	100955870	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C4091T:p.T1364I	.	751	747	24	0	0	24	0.0158103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1215415686	6.571e-06	0.0003	1.366e-05	0	9.178e-05	1.09e-06	4.1e-07	.	.	0	9.178e-05	0	0	0	0	5.199e-06	0	0	0	1.97e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.053	0.47581	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	0.14480	.	.	.	.	.	.	.	0.12569833	0.23889	T	.	.	.	.	.	.	.	.	.	0.13546840645142116	0.13470	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324967	0.06659	T	.	.	.	.	.	.	.	.	-6.916	0.53417	T	.	.	0.194	0.41449	B	.;.	.;.	1.318058	0.17221	13.03	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.269000	0.18354	-1.184000	0.06088	0.523000	0.23987	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	148.44	771	chr7	100955870	.	C	T	148.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.256;DP=4719;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=54.88;MQRankSum=-4.851;QD=3.3;ReadPosRankSum=0.096;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,7:45:99:0|1:100955870_C_T:159,0,1554:100955870	6	0	1	0
chr7	100955885	100955885	C	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C4106A:p.T1369K	.	797	704	21	0	0	21	0.0146956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.076e-06	9.378e-05	6.453e-06	0	4.916e-06	0	0	.	.	0	0	0	0	0	0	4.916e-06	0	0	0	1.314e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.869	0.03361	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.15328	.	.	.	.	.	.	.	0.13989082	0.26594	T	.	.	.	.	.	.	.	.	.	0.07637178851557971	0.07573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256074	0.04257	T	.	.	.	.	.	.	.	.	-7.527	0.57801	D	.	.	0.216	0.44501	B	.;.	.;.	1.540250	0.19754	14.42	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.690000	0.25132	-11.763000	0.00577	0.523000	0.23987	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	.	.	.	.	.	.	.	.	0.07143	118.44	771	chr7	100955885	.	C	A	118.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.875;DP=4721;ExcessHet=0;FS=1.738;MLEAC=1;MLEAF=0.071;MQ=55.06;MQRankSum=-4.57;QD=2.52;ReadPosRankSum=1.94;SOR=1.262	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,6:47:99:0|1:100955870_C_T:129,0,1683:100955870	6	0	1	0
chr7	100955890	100955890	G	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.G4111A:p.D1371N	.	735	767	20	0	0	20	0.01287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.58e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.628e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.455	0.13066	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.07125	.	.	.	.	.	.	.	0.11502871	0.21659	T	.	.	.	.	.	.	.	.	.	0.018346625916155938	0.01788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.391661	0.09743	T	.	.	.	.	.	.	.	.	-5.603	0.42820	T	.	.	0.112	0.21950	B	.;.	.;.	0.813907	0.11849	8.417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.699000	0.05188	-11.494000	0.00600	0.576000	0.29215	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	127.44	775	chr7	100955890	.	G	A	127.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.022;DP=4805;ExcessHet=0;FS=1.719;MLEAC=1;MLEAF=0.071;MQ=54.73;MQRankSum=-4.537;QD=2.9;ReadPosRankSum=1.68;SOR=1.186	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,6:44:99:0|1:100955870_C_T:138,0,1578:100955870	6	0	1	0
chr7	100955900	100955900	C	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C4121G:p.T1374R	.	1070	433	19	0	0	19	0.0214689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.089e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.073	0.43159	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.05162	.	.	.	.	.	.	.	0.105006486	0.19389	T	.	.	.	.	.	.	.	.	.	0.12460099460470149	0.12386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274673	0.04684	T	.	.	.	.	.	.	.	.	-8.228	0.62613	D	.	.	0.103	0.18289	B	.;.	.;.	1.206719	0.15994	12.24	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187000	0.16806	-20.000000	0.00162	0.512000	0.23348	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	79.44	748	chr7	100955900	.	C	G	79.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.821;DP=4517;ExcessHet=0;FS=4.539;MLEAC=1;MLEAF=0.071;MQ=55.01;MQRankSum=-4.221;QD=1.77;ReadPosRankSum=2.46;SOR=1.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,5:45:90:0|1:100955870_C_T:90,0,1665:100955870	6	0	1	0
chr7	100955947	100955947	T	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.T4168G:p.S1390A	.	762	744	16	0	0	16	0.0106383	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.24e-06	3.816e-05	5.585e-06	4.935e-06	4.118e-05	8.7e-07	3.3e-07	.	.	0	0	0	0	3.465e-05	0	0	0	4.118e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554	0.09298	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.08506	.	.	.	.	.	.	.	0.099006355	0.17938	T	.	.	.	.	.	.	.	.	.	0.009954419803871274	0.00957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140586	0.01332	T	.	.	.	.	.	.	.	.	-7.896	0.60359	D	.	.	0.106	0.19559	B	.;.	.;.	0.793314	0.11639	8.224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.120000	0.10633	-3.951000	0.02432	-0.182000	0.10109	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	.	.	.	.	.	.	.	.	0.07143	82.44	593	chr7	100955947	.	T	G	82.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.605;DP=4019;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=53.83;MQRankSum=-3.544;QD=2.84;ReadPosRankSum=-2.365;SOR=0.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,4:29:93:0|1:100955870_C_T:93,0,1038:100955870	6	0	1	0
chr7	100958283	100958283	G	0	exonic	MUC3A	.	.	.	.	1044	288	14	0	176	190	0.0237288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	469.67	569	chr7	100958283	.	G	*	469.67	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-1.665;DP=3071;ExcessHet=1.7609;FS=17.362;MLEAC=2;MLEAF=0.5;MQ=50.93;MQRankSum=-0.386;QD=4.52;ReadPosRankSum=0.527;SOR=1.241	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,14:22:99:0|1:100958270_T_C:534,0,237:100958270	1	0	1	5
chr7	100958296	100958326	CACAGGTGGGGGACCACCGAGACCACATCCT	0	exonic	MUC3A	.	.	.	.	1113	167	100	11	131	253	0.267544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	568.61	569	chr7	100958296	.	CACAGGTGGGGGACCACCGAGACCACATCCT	*	568.61	.	AC=1;AF=0.25;AN=4;BaseQRankSum=1.38;DP=3102;ExcessHet=1.7609;FS=5.809;MLEAC=2;MLEAF=0.5;MQ=52.92;MQRankSum=-3.666;QD=4.09;ReadPosRankSum=-1.702;SOR=0.65	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,14:22:99:0|1:100958270_T_C:534,0,237:100958270	1	0	1	5
chr7	100958300	100958300	G	0	exonic	MUC3A	.	.	.	.	218	0	0	4	4	12	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	4084.19	164	chr7	100958300	.	G	*	4084.19	.	AC=2;AF=0.333;AN=6;BaseQRankSum=4.46;DP=2697;ExcessHet=0.9691;FS=79.117;MLEAC=3;MLEAF=0.5;MQ=48.22;MQRankSum=2.3;QD=13.48;ReadPosRankSum=-1.538;SOR=1.538	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,14:22:99:0|1:100958270_T_C:534,0,237:100958270	1	0	2	4
chr7	100958301	100958301	G	0	exonic	MUC3A	.	.	.	.	1236	33	0	10	243	263	0.232558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	4090.19	162	chr7	100958301	.	G	*	4090.19	.	AC=2;AF=0.333;AN=6;DP=2695;ExcessHet=0.9691;FS=79.53;MLEAC=3;MLEAF=0.5;MQ=48.25;MQRankSum=2.29;QD=13.59;SOR=1.537	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,14:22:99:0|1:100958270_T_C:534,0,237:100958270	1	0	2	4
chr7	100958304	100958304	G	0	exonic	MUC3A	.	.	.	.	1234	37	0	13	238	264	0.26	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	6718.16	164	chr7	100958304	.	G	*	6718.16	.	AC=2;AF=0.333;AN=6;DP=2697;ExcessHet=0.9691;FS=3.23;MLEAC=3;MLEAF=0.5;MQ=52.18;MQRankSum=-2.682;QD=22.17;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,14:22:99:0|1:100958270_T_C:534,0,237:100958270	1	0	2	4
chr7	100958305	100958305	G	0	exonic	MUC3A	.	.	.	.	1235	37	1	5	244	255	0.129412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	6615.17	166	chr7	100958305	.	G	*	6615.17	.	AC=2;AF=0.333;AN=6;DP=2699;ExcessHet=0.9691;FS=1.957;MLEAC=3;MLEAF=0.5;MQ=52.47;MQRankSum=-3.203;QD=21.69;SOR=0.709	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,14:22:99:0|1:100958270_T_C:534,0,237:100958270	1	0	2	4
chr7	100991093	100991093	C	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C530A:p.T177K	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.0184006155568	0.0004	.	0.0006	0	0	0	0	0.0012	0.0042	0.0001	9.06e-05	14	154602	rs374128187	0.0003	0.0002	0.0003	0.0003	0.0054	0.0002	0.0002	0.0039	0.0034	6.332e-05	0.0005	0.0045	0	0	0.0054	0.0001	0.0005	0.0002	0.0002	0.0002	0.0002	0.0003	0.0006	0.0002	0.0002	0.0003	0.0002	2.414e-05	0	0.0005	0.0040	0	0	0	0.0002	0	0.0006	0.003	0.68238	D	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.7	0.43825	L	2.74	0.11730	T	-0.79	0.21860	N	0.185	0.20925	-0.9544	0.40203	T	0.015	0.06282	T	7	0.0064397156	0.00146	T	0.018401	0.40451	T	0.014	0.01968	.	.	0.0401082797425	0.02173	0.023725647061661984	0.02324	.	.	0.53535681963	0.43789	T	0.004359	0.03768	T	-0.516828	0.00459	T	-0.650163	0.08942	T	0.0221020980214668	0.00921	T	0.294071	0.05417	T	0.07170903	0.15896	0.10393348	0.24949	0.07170903	0.15895	0.10393348	0.24948	-9.049	0.68248	D	.	.	0.410	0.60155	A	.;.	.;.	0.366393	0.07391	4.013	0.86754503308675435	0.16750	0.00228	0.01279	N	AEFDBI	0.036155	0.04771	N	-0.94857703009039	0.09725	0.4615139	-1.11191533093776	0.07471	0.3635628	1.23114870679214E-5	0.02871	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.713	0.713	0.17330	-1.444000	0.02510	-4.692000	0.02031	0.415000	0.20742	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	1.0E-4:0.5827:0.4172:0.0	4.574	0.11617	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007874	0.005319	0.006667	0.014925	0.000000	0.000000	0.011364	0.000000	0.07143	100.44	33	chr7	100991093	.	C	A	100.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.403;DP=226;ExcessHet=0;FS=2.141;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.78;ReadPosRankSum=1.12;SOR=0.781	GT:AD:DP:GQ:PL	0/1:16,5:21:99:111,0,437	6	0	1	0
chr7	102934282	102934282	G	C	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.G369C:p.E123D,LRRC17:NM_005824:exon2:c.G369C:p.E123D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.00550950631605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.541	0.10678	T	0.0	0.02946	B	0.002	0.06944	B	0.004721	0.33446	N	0.207615	1	0.81001	D	-0.18	0.04256	N	0.26	0.59314	T	2.97	0.00304	N	0.088	0.06587	-0.9900	0.32601	T	0.059	0.24871	T	10	0.0402624	0.02580	T	0.00551	0.14197	T	0.102	0.29158	0.593	0.72247	0.630674063255	0.62765	0.32803734693529624	0.32716	0.23164822142	0.25718	0.39575278759	0.24477	T	0.001762	0.01186	T	-0.263963	0.12439	T	-0.616941	0.11426	T	0.0953304618597031	0.11836	T	0.758424	0.38228	T	0.07261241	0.16165	0.063943654	0.12744	0.07261241	0.16165	0.063943654	0.12743	-1.533	0.03110	T	.	.	0.084	0.33156	B	.;.	.;.	1.403225	0.18178	13.59	0.79853046318071419	0.12930	0.67709	0.33531	D	AEFDBIJ	0.199371	0.32618	N	-0.6476857485773	0.17528	0.9027043	-0.402716744649766	0.24916	1.367225	0.999999761740133	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.338622	0.05889	2	0.613276	0.41899	0	.	.	5.52	3.61	0.40494	0.038000	0.13749	0.020000	0.13575	0.676000	0.76740	0.830000	0.30133	0.455000	0.24973	0.993000	0.69303	0.1452:0.1381:0.7166:0.0	7.418	0.26231	455	0.79073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	412.11	59	chr7	102934282	.	G	C	412.11	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.405;DP=373;ExcessHet=2.5225;FS=246.061;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=1.64;ReadPosRankSum=1.36;SOR=7.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:23:0|1:102934282_G_C:23,0,94:102934282	3	0	4	0
chr7	102934283	102934283	G	C	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.G370C:p.A124P,LRRC17:NM_005824:exon2:c.G370C:p.A124P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.686	0.102285869568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.642e-05	1.362e-06	1.376e-06	8.996e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000018	0.62929	D	0.000000	1	0.81001	D	2.48	0.72069	M	0.09	0.61443	T	-4.69	0.79743	D	0.866	0.91621	-0.0790	0.80575	T	0.414	0.76122	T	10	0.83823025	0.82978	D	0.102286	0.77566	D	0.686	0.88538	0.608	0.74063	0.884098710478	0.88296	0.8411723386298476	0.84077	1.02869255285	0.75355	0.595906376839	0.52327	T	0.053493	0.29459	T	0.351657	0.86616	D	0.267354	0.86441	D	0.998028337955475	0.93033	D	0.90001	0.65919	D	0.958163	0.97095	0.93957394	0.97739	0.958163	0.97095	0.93957394	0.97740	-8.842	0.66674	D	.	.	0.973	0.90137	P	.;.	.;.	4.615823	0.73244	26.0	0.99771405677723168	0.85918	0.99139	0.91801	D	AEFDBIJ	0.974099	0.99537	D	0.77679732466033	0.84635	8.343356	0.724224124696295	0.84219	8.231214	0.999999999999933	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.338622	0.05889	2	0.613276	0.41899	0	.	.	5.52	4.65	0.57626	8.066000	0.89276	4.610000	0.44033	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0697:0.0:0.9303:0.0	14.775	0.69347	455	0.79073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	459.12	61	chr7	102934283	.	G	C	459.12	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.418;DP=470;ExcessHet=2.5225;FS=339.92;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=1.79;ReadPosRankSum=0.875;SOR=8.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:23:0|1:102934282_G_C:23,0,94:102934282	3	0	4	0
chr7	108565082	108565082	T	-	exonic	THAP5	.	frameshift deletion	THAP5:NM_001130475:exon3:c.297delA:p.K99Nfs*25,THAP5:NM_182529:exon3:c.171delA:p.K57Nfs*25	.	540	978	4	0	0	4	0.00204082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0162	.	0.0012	0	0.0026	0.0017	0	0.0009	0	0.0026	3.84e-05	1	26028	rs745348876	0.0001	0.0014	0.0001	0.0001	0.0007	9.619e-05	9.063e-05	0.0004	0.0004	0.0002	0.0007	0.0002	8.534e-05	6.223e-05	0.0007	8.867e-05	7.137e-05	0.0002	2.649e-05	6.585e-05	1.295e-05	4.067e-05	0.0002	8.19e-06	5.17e-06	8.07e-06	3.02e-06	4.87e-05	0	6.61e-05	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	96.2	34	chr7	108565081	.	AT	A	96.2	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0;DP=200;ExcessHet=0.3476;FS=2.066;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=4.18;ReadPosRankSum=0.15;SOR=0.193	GT:AD:DP:GQ:PL	0/1:2,2:4:46:48,0,46	5	0	2	0
chr7	111122864	111122864	G	A	exonic	LRRN3	.	nonsynonymous SNV	LRRN3:NM_018334:exon2:c.G92A:p.R31Q,LRRN3:NM_001099658:exon3:c.G92A:p.R31Q,LRRN3:NM_001099660:exon4:c.G92A:p.R31Q	.	432	1085	4	1	0	6	0.00275735	.	.	.	699749	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.328	.	0.0002	0.00978435	0.0075	0.0003	0.0722	0.0064	0	0.0001	0.0011	0.0007	0.0072121	1115	154602	rs186329804	0.0024	0.0024	0.0027	0.0020	0.0609	0.0023	0.0023	0.0590	0.0582	0.0003	0.0609	3.827e-05	0.0114	0	0.0007	6.386e-05	0.0022	0.0006	0.0043	0.0043	0.0035	0.0051	0.0376	0.0040	0.0039	0.0351	0.0341	0.0006	0	0.0376	0	0.0062	0	0	0.0001	0.0043	0.0010	0.67	0.04561	T	0.62	0.07972	T	0.0	0.02946	B	0.001	0.04355	B	0.309509	0.14458	N	0.632628	0.999999	0.58761	D	-1.01	0.01154	N	-4.06	0.96529	D	0.33	0.03889	N	0.096	0.07673	-0.4910	0.68973	T	0.358	0.72061	T	10	0.0031238496	0.00052	T	.	.	.	0.328	0.65026	.	.	0.541484462481	0.53801	0.1035811217074937	0.10288	0.258577922938	0.28418	0.21241697669	0.00918	T	0.002311	0.01710	T	-0.328934	0.06192	T	-0.198153	0.54822	T	0.00234503173460957	0.00024	T	0.253675	0.06803	T	0.03389035	0.03698	0.03859036	0.03760	0.03389035	0.03698	0.03859036	0.03760	-3.509	0.16557	T	.	.	0.058	0.02257	B	.;.;.;.	.;.;.;.	1.316510	0.17203	13.02	0.84370985193853199	0.15253	0.32858	0.24687	N	AEFGBI	0.026781	0.02071	N	-0.770272381231916	0.14090	0.6990436	-0.558908261407429	0.20569	1.108814	3.45047923363698E-4	0.06626	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.98	0.942	0.18648	2.868000	0.48134	3.269000	0.37146	-0.046000	0.17342	0.998000	0.41325	0.978000	0.30204	0.988000	0.63387	0.6285:0.2443:0.1272:0.0	8.346	0.31437	628	0.65206	Leucine-rich repeat N-terminal domain;Leucine-rich repeat N-terminal domain;Leucine-rich repeat N-terminal domain;Leucine-rich repeat N-terminal domain|Leucine-rich repeat N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	104.44	34	chr7	111122864	.	G	A	104.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.703;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-0.439;SOR=0.799	GT:AD:DP:GQ:PL	0/1:3,5:8:66:115,0,66	6	0	1	0
chr7	116699194	116699194	T	C	exonic	MET	.	nonsynonymous SNV	MET:NM_000245:exon2:c.T110C:p.V37A,MET:NM_001127500:exon2:c.T110C:p.V37A,MET:NM_001324401:exon2:c.T110C:p.V37A	Hepatocellular carcinoma, childhood type, somatic;Renal cell carcinoma, papillary, 1, familial and somatic	0	1516	5	1	0	7	0.00230339	.	.	.	50049	Hereditary_cancer-predisposing_syndrome|Renal_cell_carcinoma|MET-related_disorder|not_specified|not_provided|Papillary_renal_cell_carcinoma_type_1|Hereditary_cancer	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human_Phenotype_Ontology:HP:0005584,Human_Phenotype_Ontology:HP:0006720,MONDO:MONDO:0005086,MeSH:D002292,MedGen:C0007134,Orphanet:217071|.|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MedGen:C1333600	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.142	0.0291073682577	8.2e-05	0.00119808	0.0011	0	0	0	0	0.0001	0.0011	0.0076	0.0009314	144	154602	rs201315884	0.0006	0.0006	0.0004	0.0008	0.0070	0.0005	0.0005	0.0065	0.0063	2.988e-05	4.475e-05	0.0013	0	0	0.0016	0.0001	0.0008	0.0070	0.0002	0.0002	0.0002	0.0003	0.0052	0.0002	0.0002	0.0036	0.0031	2.406e-05	0	6.541e-05	0.0009	0	0	0	0.0001	0	0.0052	0.032	0.44694	D	0.078	0.46862	T	0.113	0.26349	B	0.031	0.31289	B	0.000007	0.62929	D	0.062168	0.503033	0.31757	D	1.79	0.46772	L	2.64	0.73311	T	-0.72	0.35792	N	0.276	0.33469	-0.4450	0.70565	T	0.353	0.71619	T	10	0.005613953	0.00124	T	0.029107	0.51676	D	0.142	0.37995	.	.	0.35158688536	0.34763	0.4757574709307922	0.47494	0.399774121659	0.40994	0.340591311455	0.16527	T	0.379824	0.74249	T	-0.333396	0.05858	T	-0.247812	0.50034	T	0.0470295077618543	0.04971	T	0.573243	0.20505	T	0.090709254	0.21233	0.098195896	0.23403	0.083677694	0.19332	0.1066093	0.25650	-5.846	0.44973	T	0.32103672873341865	0.41917	0.263	0.49778	B	.;.;.;.	.;.;.;.	3.411769	0.47334	22.4	0.98606696957422291	0.43585	0.96974	0.71966	D	AEFDGBHCI	0.583254	0.58255	D	0.122565792576668	0.47518	2.976309	0.244613026578497	0.52343	3.409818	0.999999999992328	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.675528	0.61593	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	5.573000	0.67117	6.203000	0.54917	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.838000	0.39538	0.0:0.0:0.1363:0.8637	12.801	0.56967	636	0.64483	Sema domain;Sema domain;Sema domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	59.44	34	chr7	116699194	.	T	C	59.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.792;DP=213;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.49;ReadPosRankSum=-1.368;SOR=1.179	GT:AD:DP:GQ:PL	0/1:4,3:7:70:70,0,78	6	0	1	0
chr7	117426898	117426898	T	C	exonic	ASZ1	.	nonsynonymous SNV	ASZ1:NM_001301821:exon2:c.A143G:p.E48G,ASZ1:NM_130768:exon2:c.A143G:p.E48G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.319	0.0682668240483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.138	0.33780	T	0.996	0.68779	D	0.873	0.61978	P	0.002592	0.36278	N	0.265310	0.537332	0.32025	D	1.495	0.37439	L	-0.36	0.68754	T	-2.66	0.56945	D	0.656	0.66615	-0.1299	0.79404	T	0.390	0.74401	T	10	0.6844036	0.71473	D	0.068267	0.70401	D	0.319	0.64112	0.383	0.40134	0.718152632897	0.71567	0.4531637891309797	0.45234	0.0585159383565	0.06489	0.435192465782	0.29919	T	0.138	0.47063	T	0.0205102	0.54451	T	-0.208315	0.53856	T	0.879203379154205	0.52916	D	0.764224	0.39120	T	0.15210795	0.34545	0.21204369	0.45657	0.15210795	0.34544	0.21204369	0.45656	-8.516	0.64535	D	.	.	0.100	0.17189	B	.	.	4.446111	0.69071	25.3	0.99893688066384656	0.96742	0.82402	0.41635	D	AEFDBHCI	0.354985	0.44688	N	0.472699111908038	0.65502	4.830553	0.418993089936302	0.62747	4.495637	0.0801284946905584	0.15837	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.45	4.28	0.50183	4.432000	0.59666	6.113000	0.53689	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.1789:0.8211	9.450	0.37887	525	0.74024	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	.	.	.	.	.	.	.	.	0.1429	33.23	9	chr7	117426898	.	T	C	33.23	.	AC=2;AF=0.143;AN=14;DP=75;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.62;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr7	122011553	122011553	A	C	exonic	PTPRZ1	.	nonsynonymous SNV	PTPRZ1:NM_001369395:exon12:c.A2507C:p.H836P,PTPRZ1:NM_002851:exon12:c.A2507C:p.H836P,PTPRZ1:NM_001369396:exon13:c.A2465C:p.H822P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.017185879556	.	.	8.237e-06	9.61e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs759142145	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	3.288e-05	3.284e-05	2.571e-05	4.039e-05	0.0001	1.262e-05	7.99e-06	4.743e-05	3.056e-05	0.0001	0	0	0	0	0	0	0	0	0	0.007	0.59928	D	0.179	0.29540	T	0.681	0.41422	P	0.255	0.39216	B	0.002875	0.35804	N	0.246847	1	0.81001	D	2.2	0.62015	M	0.96	0.42888	T	-1.69	0.40274	N	0.331	0.37197	-1.0145	0.25497	T	0.099	0.36983	T	10	0.21593317	0.38160	T	0.017186	0.38787	T	0.112	0.31546	.	.	0.0675242888579	0.06100	0.6154367429873003	0.61475	0.246799882432	0.27215	0.35907971859	0.19251	T	0.172261	0.52068	T	-0.229864	0.16668	T	-0.331291	0.41326	T	0.266950820621968	0.23616	T	0.79582	0.43907	T	0.25157395	0.48166	0.25669396	0.51374	0.25157395	0.48166	0.25669396	0.51373	-1.003	0.01003	T	.	.	0.072	0.04080	B	.	.	2.537406	0.32816	19.16	0.97211094107690443	0.32856	0.93539	0.58493	D	AEFGBI	0.742775	0.68629	D	0.189809733184538	0.50711	3.258459	0.274398083827816	0.54050	3.571147	0.108336519648295	0.16580	0.67177	0.52595	0	0.548873	0.16688	0	0.702456	0.68683	0	0.530356	0.10902	0	.	.	5.8	4.62	0.56946	3.945000	0.56346	3.317000	0.37513	0.756000	0.94297	1.000000	0.71638	0.999000	0.35428	0.998000	0.85391	0.8652:0.1348:0.0:0.0	13.029	0.58239	741	0.52966	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	135.44	33	chr7	122011553	.	A	C	135.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.556;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=0.944;SOR=0.307	GT:AD:DP:GQ:PL	0/1:6,6:12:99:146,0,173	6	0	1	0
chr7	128877715	128877715	G	A	exonic	KCP	.	nonsynonymous SNV	KCP:NM_001366122:exon39:c.C4387T:p.R1463C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.256e-05	0	0	0	0	0.0001	0	0	6.5e-06	1	154602	rs748855812	3.146e-05	3.01e-05	2.821e-05	3.479e-05	0.0002	2.384e-05	2.124e-05	2.53e-05	2.209e-05	3.165e-05	5.602e-05	0	0	0	0.0002	3.429e-05	5.173e-05	0	6.57e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.31925	.	.	.	.	.	.	.	0.19633302	0.35520	T	.	.	.	.	.	.	.	0.317084106153	0.31322	0.4631062419059024	0.46229	.	.	0.502265095711	0.39144	T	0.029955	0.21344	T	0.0707067	0.60936	D	-0.0309255	0.68308	D	.	.	.	0.915608	0.69895	D	0.22327992	0.44945	0.22238533	0.47081	0.22327992	0.44945	0.22238533	0.47080	-12.602	0.87659	D	.	.	0.468	0.63076	A	.;.;.	.;.;.	4.644930	0.73984	26.1	0.79751537874615197	0.12884	0.92268	0.55322	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999741417105405	0.42466	0.185449	0.04010	2	0.356841	0.05899	0	0.129117	0.03641	0	0.058706	0.01089	0	0.438292	0.38361	5.67	3.75	0.42236	1.061000	0.30152	7.457000	0.59017	0.672000	0.70159	0.866000	0.30720	1.000000	0.68203	0.659000	0.32940	0.0829:0.0:0.7614:0.1558	8.279	0.31047	571	0.70397	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	.	.	.	.	.	.	.	.	0.07143	55.44	33	chr7	128877715	.	G	A	55.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.431;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.24;ReadPosRankSum=-1.834;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,4:6:32:66,0,32	6	0	1	0
chr7	131504389	131504389	C	G	exonic	PODXL	.	nonsynonymous SNV	PODXL:NM_005397:exon8:c.G1503C:p.E501D,PODXL:NM_001018111:exon9:c.G1599C:p.E533D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.0473608544409	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1431079322	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.36709	T	0.0	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.999985	0.54805	D	2.735	0.79925	M	1.53	0.30401	T	-1.75	0.42001	N	0.705	0.72925	-0.8025	0.54997	T	0.184	0.53331	T	10	0.81317866	0.80582	D	0.047361	0.62888	D	0.239	0.54358	0.728	0.86198	0.528210255337	0.52467	0.1387939184798276	0.13802	0.817353175767	0.66999	0.642235636711	0.58882	T	0.241639	0.61021	T	-0.239911	0.15361	T	-0.485538	0.23860	T	0.877944928774436	0.52786	D	0.818018	0.47523	T	0.3303244	0.55497	0.24105364	0.49494	0.3303244	0.55497	0.24105364	0.49493	-8.004	0.61886	D	.	.	0.692	0.73930	P	.;.	.;.	3.913270	0.57078	23.8	0.99897937894187783	0.97048	0.93110	0.57353	D	AEFDBHCI	0.647334	0.62255	D	0.729859089717941	0.81589	7.557987	0.710599691704944	0.83182	7.955477	0.999999721665391	0.74766	0.67177	0.52595	0	0.759151	0.99529	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.66	5.66	0.87293	3.795000	0.55203	0.594000	0.19852	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.852000	0.40310	0.1543:0.8457:0.0:0.0	13.669	0.61892	951	0.11083	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	66.44	33	chr7	131504389	.	C	G	66.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.674;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-0.524;SOR=0.223	GT:AD:DP:GQ:PL	0/1:2,3:5:69:77,0,69	6	0	1	0
chr7	139913142	139913142	C	A	exonic	TBXAS1	.	stopgain	TBXAS1:NM_001366538:exon5:c.C411A:p.C137X	Ghosal hematodiaphyseal syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.94568	0.37497	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.408657	0.02029	T	-0.824784	0.01358	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190759	0.05771	2.212	0.97397709908770258	0.33755	0.05709	0.11631	N	AEFDBCI	0.036277	0.04807	N	-0.65844525385131	0.17214	0.8839325	-0.855371065862093	0.13159	0.6810905	0.999993329234048	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.615948	0.41167	0	0.567892	0.33627	0	.	.	2.88	-0.234	0.12430	-0.260000	0.08730	-0.492000	0.08854	0.389000	0.20474	0.000000	0.06391	0.000000	0.08366	0.086000	0.17578	0.0:0.44:0.4278:0.1322	4.936	0.13292	833	0.38804	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1429	33.22	35	chr7	139913142	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr7	142093546	142093546	T	C	exonic	MGAM	.	nonsynonymous SNV	MGAM:NM_001365693:exon60:c.T7168C:p.Y2390H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.0112410096422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.14912	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.654	0.66443	-1.0320	0.19809	T	0.091	0.34737	T	5	0.6287559	0.68394	D	0.011241	0.28661	T	0.104	0.29647	.	.	0.533904276971	0.53040	.	.	.	.	.	.	.	.	.	.	0.106945	0.65033	D	-0.0841567	0.64598	T	0.709400296211243	0.41171	D	0.654235	0.26451	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.47316	B	.	.	3.047894	0.40890	21.3	0.96558532447621426	0.30251	0.92037	0.54805	D	AEFBI	0.612280	0.60041	D	0.204840794140855	0.51433	3.324618	0.274113024027221	0.54031	3.569558	0.143861845610114	0.17322	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.95	4.95	0.64894	4.949000	0.63298	.	.	0.641000	0.52212	1.000000	0.71638	1.000000	0.68203	0.677000	0.33454	0.0:0.0:0.0:1.0	13.881	0.63183	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	213.44	35	chr7	142093546	.	T	C	213.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.114;DP=308;ExcessHet=0;FS=2.059;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=1.28;SOR=1.402	GT:AD:DP:GQ:PL	0/1:6,9:15:99:224,0,134	6	0	1	0
chr7	143027071	143027071	C	T	exonic	OR9A2	.	nonsynonymous SNV	OR9A2:NM_001001658:exon1:c.G62A:p.G21E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.000526751440438	.	.	8.414e-06	0	0	0	0	1.514e-05	0	0	6.5e-06	1	154602	rs767279009	6.844e-07	6.84e-07	0	1.376e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	6.582e-06	6.57e-06	1.287e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.976630	0.08122	N	0.981208	1	0.08975	N	-1.16	0.00885	N	7.46	0.00389	T	2.94	0.00149	N	0.052	0.02366	-1.0297	0.20551	T	0.000	0.00152	T	10	0.052545995	0.05306	T	5.27E-4	0.00185	T	0.022	0.04323	0.308	0.27967	0.20549828249	0.20151	0.09273523398764016	0.09205	0.29252553356	0.31669	0.179946690798	0.00093	T	0.002532	0.01924	T	-0.390525	0.02669	T	-0.798738	0.01934	T	0.0376326387726559	0.03267	T	0.188181	0.01975	T	0.04355794	0.06808	0.05617035	0.09989	0.04355794	0.06808	0.05617035	0.09988	-1.334	0.01457	T	.	.	0.072	0.04277	B	.	.	-0.273077	0.02738	0.364	0.3028240062562208	0.01648	0.00145	0.00883	N	AEFBI	0.019006	0.00622	N	-1.52191352228829	0.01706	0.0746667	-1.44070822059669	0.02855	0.1321229	0.914945735039633	0.26468	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.31	1.68	0.23219	0.980000	0.29111	0.151000	0.15292	-0.167000	0.11441	0.001000	0.13787	0.000000	0.08366	0.016000	0.10718	0.0:0.1989:0.0:0.8011	7.130	0.24673	851	0.35303	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	64.44	34	chr7	143027071	.	C	T	64.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=203;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:75:0|1:143027070_T_A:75,0,120:143027070	6	0	1	0
chr7	144185486	144185486	G	A	exonic	CTAGE4;CTAGE8	.	nonsynonymous SNV	CTAGE8:NM_001278507:exon1:c.G1983A:p.M661I,CTAGE4:NM_198495:exon1:c.G1983A:p.M661I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00144250319632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.684e-07	7.041e-07	0	1.537e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.835e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.28271	T	0.47	0.12246	T	0.065	0.23521	B	0.049	0.25116	B	.	.	.	.	1	0.08975	N	1.85	0.49092	L	1.16	0.38073	T	-1.17	0.29933	N	0.269	0.30461	-0.9779	0.35481	T	0.098	0.36754	T	7	0.06580171	0.08932	T	0.001443	0.02164	T	0.053	0.14996	0.196	0.10839	0.0551355673512	0.04727	0.07471606949998723	0.07407	.	.	0.50909268856	0.40094	T	0.014013	0.12011	T	-0.304172	0.08272	T	-0.674699	0.07310	T	0.0479581447669193	0.05137	T	0.709329	0.31993	T	0.21648724	0.44108	0.17078266	0.39213	0.21648724	0.44108	0.17078266	0.39212	-3.979	0.23488	T	.	.	0.326	0.54940	B	.	.	1.251181	0.16477	12.57	0.65242145242364202	0.07717	0.00106	0.00678	N	AEFI	0.022955	0.01214	N	-0.936406157727976	0.09999	0.4758299	-1.12110308538984	0.07298	0.3544369	7.78365322721045E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	.	.	.	-0.020000	0.12466	1.868000	0.29368	0.254000	0.18348	0.391000	0.26096	0.990000	0.31317	0.395000	0.26670	.	.	.	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	.	.	.	.	.	.	.	.	0.1429	74.22	39	chr7	144185486	.	G	A	74.22	.	AC=2;AF=0.143;AN=14;DP=293;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=23;QD=28.44;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:144185466_A_G:90,6,0:144185466	6	1	0	0
chr7	149003806	149003806	C	A	exonic	PDIA4	.	nonsynonymous SNV	PDIA4:NM_001371244:exon10:c.G1929T:p.K643N,PDIA4:NM_001371245:exon10:c.G1857T:p.K619N,PDIA4:NM_004911:exon10:c.G1926T:p.K642N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.00531650671912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.004	0.74150	D	0.041	0.21357	B	0.025	0.20508	B	0.000126	0.49741	D	0.232325	1	0.81001	D	2.83	0.82355	M	2.15	0.19311	T	-3.69	0.70432	D	0.17	0.18103	-1.0642	0.10736	T	0.053	0.22539	T	10	0.1689893	0.31482	T	0.005317	0.13618	T	0.100	0.28662	0.282	0.23801	0.228597637076	0.22478	.	.	0.385980496119	0.39890	0.312920302153	0.12349	T	0.141479	0.47656	T	-0.226405	0.17128	T	-0.562991	0.16097	T	0.978172183036804	0.72198	D	0.854615	0.54143	D	0.48495814	0.66200	0.33914483	0.59683	0.48495814	0.66201	0.33914483	0.59682	-7.904	0.60414	D	.	.	.	.	.	.	.	3.736108	0.53476	23.4	0.99801453360646142	0.88639	0.88089	0.47866	D	AEFBCI	0.728614	0.67658	D	0.105222123968088	0.46706	2.906912	0.256736876526572	0.53034	3.474422	0.996148126254849	0.34553	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.79	4.81	0.61401	2.552000	0.45490	2.067000	0.30424	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.997000	0.79791	0.0:0.8077:0.0:0.1923	6.982	0.23887	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr7	149003806	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=205;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr7	150948907	150948907	C	A	exonic	KCNH2	.	nonsynonymous SNV	KCNH2:NM_172057:exon6:c.G1521T:p.E507D,KCNH2:NM_000238:exon10:c.G2541T:p.E847D	Long QT syndrome 2, Autosomal dominant;Short QT syndrome 1	.	.	.	.	.	.	.	.	.	YES	1323325	Cardiac_arrhythmia|Long_QT_syndrome	EFO:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.662	0.280158863132	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866263680	2.052e-06	2.052e-06	0	4.125e-06	0.0003	5.5e-07	1.5e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.29959	T	0.236	0.27679	T	0.022	0.29618	B	0.099	0.39460	B	0.000000	0.84330	D	0.000000	0.850017	0.38722	D	1.115	0.28702	L	-3.19	0.93170	D	-1.74	0.43334	N	0.328	0.46928	0.593	0.91805	D	0.814	0.93740	D	10	0.33980975	0.51061	T	0.280159	0.90202	D	0.662	0.87381	0.516	0.61611	0.937283396386	0.93663	0.9101359853848562	0.90987	2.09264733632	0.94735	0.718738436699	0.69863	T	0.585231	0.86479	D	0.196367	0.73552	D	0.0442909	0.73208	D	0.952089548110962	0.63709	D	0.886911	0.61435	D	0.19616544	0.41433	0.17480655	0.39902	0.19616544	0.41433	0.17480655	0.39901	-8.24	0.62694	D	0.22022279628649946	0.29683	0.484	0.63867	A	.;.	.;.	3.798210	0.54714	23.5	0.99548750117554929	0.71023	0.59150	0.30836	D	AEFDGBHCI	0.609848	0.59889	D	0.0130443616823067	0.42447	2.557765	0.0415314727195715	0.41664	2.506943	0.999999972124098	0.74766	0.609539	0.35627	0	0.541168	0.11318	0	0.493711	0.08198	1	0.63947	0.58350	0	.	.	3.95	3.95	0.44952	-0.536000	0.06223	1.432000	0.26455	0.599000	0.40250	0.074000	0.22182	1.000000	0.68203	0.843000	0.39806	0.0:0.8853:0.0:0.1147	7.651	0.27513	749	0.51929	Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain;Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	95.44	37	chr7	150948907	.	C	A	95.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.15;DP=223;ExcessHet=0;FS=6.021;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=23.86;ReadPosRankSum=-1.15;SOR=2.788	GT:AD:DP:GQ:PL	0/1:1,3:4:31:106,0,31	6	0	1	0
chr7	150950076	150950078	CCA	-	exonic	KCNH2	.	nonframeshift deletion	KCNH2:NM_001204798:exon5:c.1468_1470del:p.W490del,KCNH2:NM_172056:exon9:c.2488_2490del:p.W830del	Long QT syndrome 2, Autosomal dominant;Short QT syndrome 1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	61.4	35	chr7	150950075	.	TCCA	T	61.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=217;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=-0.431;SOR=0.693	GT:AD:DP:GQ:PL	0/1:4,2:6:72:72,0,162	6	0	1	0
chr8	3189966	3189966	G	T	exonic	CSMD1	.	nonsynonymous SNV	CSMD1:NM_033225:exon34:c.C5344A:p.Q1782K	.	427	1084	11	0	0	11	0.00504819	.	.	.	723058	not_provided|CSMD1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.122	0.00642747428256	0.0022	0.000399361	0.0041	0.0007	0.0032	0	0	0.0067	0.005	0.0008	0.0017658	273	154602	rs202157459	0.0023	0.0023	0.0023	0.0024	0.0070	0.0023	0.0022	0.0053	0.0047	0.0005	0.0015	0.0140	2.56e-05	0.0005	0.0070	0.0024	0.0027	0.0007	0.0020	0.0020	0.0021	0.0020	0.0028	0.0018	0.0018	0.0025	0.0024	0.0005	0.0022	0.0019	0.0127	0	0.0008	0.0034	0.0028	0.0061	0	0.253	0.16958	T	0.182	0.29249	T	0.055	0.22733	B	0.032	0.22131	B	0.000063	0.52346	U	0.077681	0.999439	0.47043	D	.	.	.	-0.23	0.66652	T	-1.4	0.34596	N	0.59	0.64223	-0.7056	0.60169	T	0.252	0.62166	T	10	0.010328531	0.00230	T	0.006427	0.16927	T	0.122	0.33800	.	.	0.514127983839	0.51054	0.43607606987235603	0.43524	.	.	0.391575098038	0.23891	T	0.019558	0.15561	T	-0.367915	0.03700	T	-0.306187	0.44067	T	0.0276009314543745	0.01631	T	0.943706	0.78720	D	0.29153302	0.52135	0.2241594	0.47319	0.29337117	0.52304	0.1851626	0.41611	-8.898	0.67038	D	.	.	0.079	0.07272	B	.;.;.;.;.;.	.;.;.;.;.;.	3.460469	0.48228	22.6	0.98180329609660877	0.38941	0.96328	0.68601	D	AEFBI	0.831007	0.74962	D	-0.0520743568011783	0.39509	2.331103	0.110874116548544	0.45104	2.779562	0.998366550449382	0.36832	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.34	5.34	0.75982	6.460000	0.73433	8.538000	0.77482	0.665000	0.62972	0.991000	0.37257	1.000000	0.68203	0.328000	0.25156	0.0:0.0:1.0:0.0	19.421	0.94715	934	0.15400	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.005051	0.005435	0.002924	0.050000	0.008621	0.006098	0.000000	0.1429	113.4	39	chr8	3189966	.	G	T	113.4	.	AC=2;AF=0.143;AN=14;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=28.35;SOR=1.609	GT:AD:DP:GQ:PL	1/1:0,4:4:12:133,12,0	6	1	0	0
chr8	31080997	31080997	A	G	exonic	WRN	.	nonsynonymous SNV	WRN:NM_000553:exon9:c.A970G:p.T324A	Werner syndrome, Autosomal recessive	1	1464	56	1	0	58	0.019424	.	.	YES	139188	Wiskott-Aldrich_syndrome|Werner_syndrome|not_specified|not_provided|Malignant_tumor_of_breast	MONDO:MONDO:0010518,MedGen:C0043194,OMIM:301000,Orphanet:906|MONDO:MONDO:0010196,MedGen:C0043119,OMIM:277700,Orphanet:902|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007254,MedGen:C0006142	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.018	0.00505079907063	0.0030	0.00299521	0.0036	0.0008	0.0019	0.0006	0.0002	0.0037	0.0044	0.0091	0.0035252	545	154602	rs1800390	0.0034	0.0034	0.0032	0.0035	0.0168	0.0033	0.0033	0.0141	0.0131	0.0009	0.0027	0.0031	5.045e-05	0.0001	0.0168	0.0032	0.0043	0.0090	0.0027	0.0027	0.0024	0.0030	0.0085	0.0025	0.0024	0.0064	0.0057	0.0009	0	0.0033	0.0026	0.0002	0.0002	0.0068	0.0038	0.0038	0.0085	0.359	0.11957	T	0.432	0.13634	T	0.003	0.11197	B	0.004	0.10090	B	0.286245	0.03865	N	1.445540	1	0.08975	N	0.075	0.08292	N	1.0	0.41392	T	-0.85	0.23156	N	0.026	0.00527	-1.0313	0.20034	T	0.056	0.23753	T	10	0.0030954778	0.00051	T	0.005051	0.12784	T	0.018	0.03083	.	.	0.214338557667	0.21045	0.14327334679901807	0.14250	0.0637302715162	0.07097	0.230082198977	0.01974	T	0.102429	0.41014	T	-0.67586	0.00051	T	-0.737063	0.04015	T	0.00531589299191147	0.00057	T	0.305869	0.05863	T	0.022202376	0.00867	0.0239113	0.00404	0.022202376	0.00867	0.0239113	0.00404	-3.795	0.20730	T	.	.	0.064	0.01715	B	.	.	-1.003236	0.00766	0.024	0.55756443819337698	0.05409	0.01764	0.05543	N	AEFDBI	0.019684	0.00706	N	-1.35196350224658	0.03105	0.1381541	-1.4355450691311	0.02904	0.1344473	0.488924830504959	0.20846	0.732398	0.92422	0	0.709663	0.81188	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.46	-6.52	0.01703	-1.501000	0.02385	-1.533000	0.05227	-0.589000	0.04658	0.000000	0.06391	0.000000	0.08366	0.221000	0.22489	0.4115:0.0:0.4829:0.1056	9.139	0.36052	912	0.21483	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.015609	0.015152	0.013587	0.020468	0.000000	0.017241	0.009146	0.030303	0.07143	56.44	33	chr8	31080997	.	A	G	56.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.83;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.41;ReadPosRankSum=-0.431;SOR=0.693	GT:AD:DP:GQ:PL	0/1:4,2:6:67:67,0,81	6	0	1	0
chr8	36909341	36909341	C	T	exonic	KCNU1	.	nonsynonymous SNV	KCNU1:NM_001031836:exon21:c.C2137T:p.R713W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.00987097366335	0.0007	0.000199681	0.0002	0.0023	0	0	0	2.998e-05	0.0011	0	0.0001746	27	154602	rs199759602	7.802e-05	7.935e-05	8.444e-05	7.153e-05	0.0019	6.602e-05	6.145e-05	0.0015	0.0014	0.0019	0.0003	0	2.519e-05	0	0.0003	1.979e-05	0.0001	3.479e-05	0.0007	0.0007	0.0008	0.0007	0.0025	0.0006	0.0006	0.0021	0.0019	0.0025	0	0.0004	0	0.0002	0	0	2.94e-05	0	0	0.024	0.47745	D	0.02	0.58613	D	0.086	0.24919	B	0.012	0.16012	B	0.646924	0.10548	U	0.758151	0.992539	0.23867	N	2.045	0.56016	M	1.46	0.32238	T	-3.27	0.65512	D	0.505	0.53708	-1.0797	0.07407	T	0.084	0.32786	T	10	0.030563802	0.01184	T	0.009871	0.25720	T	0.140	0.37593	.	.	0.467329424371	0.46359	0.46455425240868475	0.46374	0.141824913144	0.15982	0.252690017223	0.04056	T	0.41373	0.76750	T	-0.450202	0.01126	T	-0.422511	0.30788	T	0.0444590806435604	0.04504	T	0.831217	0.49813	T	0.2653083	0.49599	0.15532877	0.36416	0.2653083	0.49599	0.15532877	0.36415	-6.727	0.52013	T	.	.	0.128	0.27373	B	.	.	3.719874	0.53147	23.3	0.99784235292498957	0.87043	0.59035	0.30804	D	AEFI	0.197742	0.32464	N	-0.3140031535889	0.28616	1.579812	-0.2086992592535	0.31223	1.764982	0.995976309526551	0.34444	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.8	4.93	0.64394	3.077000	0.49787	3.234000	0.36926	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.020000	0.11549	0.0:0.9241:0.0:0.0759	12.823	0.57087	793	0.45818	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	209.44	36	chr8	36909341	.	C	T	209.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.66;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.96;ReadPosRankSum=-1.14;SOR=0.593	GT:AD:DP:GQ:PL	0/1:6,8:14:99:220,0,116	6	0	1	0
chr8	42154959	42154959	A	T	exonic	AP3M2	.	nonsynonymous SNV	AP3M2:NM_006803:exon2:c.A272T:p.Q91L,AP3M2:NM_001134296:exon3:c.A272T:p.Q91L	.	.	.	.	.	.	.	.	0.9990	0.986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.410	0.112274529167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.288	0.17410	T	0.235	0.28120	T	0.131	0.27154	B	0.091	0.29943	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.57	0.75187	M	-1.05	0.76690	T	-1.32	0.51319	N	0.633	0.64648	-0.3000	0.74985	T	0.441	0.77915	T	10	0.41049933	0.56191	T	0.112275	0.79036	D	0.410	0.72176	0.438	0.49157	0.855344975037	0.85394	0.6664741659662489	0.66585	0.398304115663	0.40896	0.80283677578	0.82396	T	0.234672	0.65794	T	0.0767851	0.61661	D	-0.12748	0.61182	T	0.885309994220734	0.53562	D	0.844016	0.73169	T	0.24393022	0.47337	0.13228132	0.31748	0.24393022	0.47337	0.13228132	0.31747	-4.593	0.32083	T	.	.	0.111	0.21913	B	.;.;.;.;.	.;.;.;.;.	4.368700	0.67236	25.1	0.98533538811462773	0.42620	0.94261	0.60606	D	ALL	0.798600	0.72510	D	0.168182210946349	0.49676	3.165307	0.293434411423406	0.55153	3.678883	1.0	0.98316	0.730579	0.87903	0	0.52208	0.09955	0	0.65145	0.50148	0	0.648885	0.59868	0	.	.	5.29	5.29	0.74430	7.042000	0.76286	11.232000	0.90136	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	15.240	0.73159	451	0.79296	AP complex, mu/sigma subunit;AP complex, mu/sigma subunit;AP complex, mu/sigma subunit;AP complex, mu/sigma subunit;AP complex, mu/sigma subunit	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	27	chr8	42154959	.	A	T	33.22	.	AC=2;AF=0.143;AN=14;DP=178;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr8	47701992	47701992	A	G	exonic	SPIDR	.	nonsynonymous SNV	SPIDR:NM_001352959:exon5:c.A469G:p.T157A,SPIDR:NM_001352960:exon7:c.A379G:p.T127A,SPIDR:NM_001352945:exon10:c.A1228G:p.T410A,SPIDR:NM_001352941:exon11:c.A1438G:p.T480A,SPIDR:NM_001352944:exon11:c.A1438G:p.T480A,SPIDR:NM_001352953:exon11:c.A1021G:p.T341A,SPIDR:NM_001352956:exon11:c.A1021G:p.T341A,SPIDR:NM_001352939:exon12:c.A1462G:p.T488A,SPIDR:NM_001352942:exon12:c.A1297G:p.T433A,SPIDR:NM_001352952:exon12:c.A1021G:p.T341A,SPIDR:NM_001352955:exon12:c.A1021G:p.T341A,SPIDR:NM_001352957:exon12:c.A1021G:p.T341A,SPIDR:NM_001282916:exon13:c.A1744G:p.T582A,SPIDR:NM_001352935:exon13:c.A1744G:p.T582A,SPIDR:NM_001352936:exon13:c.A1744G:p.T582A,SPIDR:NM_001352938:exon13:c.A1462G:p.T488A,SPIDR:NM_001352940:exon13:c.A1462G:p.T488A,SPIDR:NM_001352943:exon13:c.A1462G:p.T488A,SPIDR:NM_001352946:exon13:c.A1204G:p.T402A,SPIDR:NM_001352948:exon13:c.A1204G:p.T402A,SPIDR:NM_001352950:exon13:c.A1462G:p.T488A,SPIDR:NM_001352951:exon13:c.A1204G:p.T402A,SPIDR:NM_001080394:exon14:c.A1954G:p.T652A,SPIDR:NM_001282919:exon14:c.A1774G:p.T592A,SPIDR:NM_001352931:exon14:c.A1954G:p.T652A,SPIDR:NM_001352932:exon14:c.A1834G:p.T612A,SPIDR:NM_001352933:exon14:c.A1774G:p.T592A,SPIDR:NM_001352934:exon14:c.A1954G:p.T652A,SPIDR:NM_001352937:exon14:c.A1774G:p.T592A,SPIDR:NM_001352947:exon14:c.A1204G:p.T402A,SPIDR:NM_001352961:exon14:c.A1954G:p.T652A,SPIDR:NM_001352949:exon15:c.A1297G:p.T433A,SPIDR:NM_001352958:exon16:c.A706G:p.T236A	.	429	1091	2	0	0	2	0.000915751	.	.	.	711552	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.081	.	0.0118	0.0105831	0.0030	0.0339	0.0022	0	0.0002	0.0001	0	0	0.0028784	445	154602	rs61735903	0.0011	0.0011	0.0013	0.0009	0.0356	0.0011	0.0010	0.0339	0.0333	0.0356	0.0027	0.0006	0	5.618e-05	0.0062	6.655e-05	0.0026	0.0001	0.0100	0.0100	0.0104	0.0095	0.0336	0.0095	0.0094	0.0321	0.0315	0.0336	0	0.0061	0.0017	0	9.529e-05	0.0034	0.0001	0.0066	0.0004	0.012	0.54683	D	0.074	0.57587	T	0.008	0.26746	B	0.01	0.19653	B	0.017746	0.27646	N	0.384657	1	0.08975	N	1.04	0.26193	L	.	.	.	-0.51	0.17417	N	0.299	0.39760	-1.0457	0.15621	T	0.017	0.06998	T	9	0.0032252967	0.00055	T	.	.	.	0.081	0.23632	.	.	0.0138822411134	0.00435	0.41076156216742093	0.40992	0.0431053341588	0.04645	.	.	.	0.024016	0.18227	T	-0.400984	0.02281	T	-0.323	0.42245	T	0.00779781624477151	0.00091	T	0.664234	0.29288	T	0.062159557	0.12954	0.080721386	0.18285	0.062159557	0.12953	0.080721386	0.18284	-6.432	0.51961	T	.	.	0.085	0.12276	B	.;.;.;.	.;.;.;.	2.387864	0.30663	18.51	0.94077680087559257	0.24224	0.49041	0.28343	N	AEFBI	0.085935	0.17421	N	-0.807515775171553	0.13118	0.6440187	-0.716260444089242	0.16556	0.8763899	0.647849834471565	0.22128	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.61	-0.178	0.12650	1.302000	0.33063	4.918000	0.46015	-0.083000	0.16234	0.374000	0.25957	1.000000	0.68203	0.539000	0.29915	0.3404:0.6596:0.0:0.0	16.133	0.81269	628	0.65206	Domain of unknown function DUF4503;.;.;Domain of unknown function DUF4503	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008560	0.005051	0.009511	0.017544	0.000000	0.034483	0.000000	0.000000	0.07143	60.44	34	chr8	47701992	.	A	G	60.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.38;DP=230;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.11;ReadPosRankSum=-1.383;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:67:71,0,67	6	0	1	0
chr8	54630261	54630261	A	G	exonic	RP1	.	nonsynonymous SNV	RP1:NM_006269:exon4:c.A6379G:p.M2127V	Retinitis pigmentosa 1, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00264360001056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.12837	T	0.449	0.12993	T	0.0	0.02946	B	0.0	0.01387	B	0.286113	0.03864	N	1.610240	1	0.08975	N	-0.205	0.04094	N	2.3	0.16953	T	0.31	0.04022	N	0.06	0.03175	-0.9919	0.32115	T	0.015	0.06090	T	10	0.025515348	0.00744	T	0.002644	0.05377	T	0.013	0.01715	0.234	0.16305	0.0846915920261	0.08053	0.264329112520451	0.26345	0.028765286346	0.02960	0.337173521519	0.16014	T	0.01682	0.13832	T	-0.366425	0.03779	T	-0.764121	0.02967	T	0.715448081493378	0.41469	D	0.39556	0.09932	T	0.11718531	0.27631	0.13422088	0.32168	0.11718531	0.27630	0.13422088	0.32167	-2.188	0.03983	T	.	.	0.059	0.00793	B	.	.	-0.874395	0.00969	0.038	0.33146661522938359	0.01959	0.03661	0.08919	N	AEFBI	0.040966	0.06164	N	-1.63755536209957	0.01088	0.04724892	-1.63707479367567	0.01444	0.06531595	0.933109661190593	0.27115	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.25	-5.1	0.02691	-0.661000	0.05410	0.051000	0.14001	-0.694000	0.04098	0.099000	0.22773	0.013000	0.20296	0.056000	0.15673	0.5015:0.0:0.27:0.2285	4.362	0.10645	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	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	42	chr8	54630261	.	A	G	33.22	.	AC=2;AF=0.143;AN=14;DP=232;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr8	58494506	58494506	C	T	exonic	CYP7A1	.	nonsynonymous SNV	CYP7A1:NM_000780:exon4:c.G1039A:p.D347N	.	420	1097	5	0	0	5	0.00227376	1.0000	1.0	.	1540955	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.318	.	0.0036	0.00978435	0.0028	0.0116	0.0007	0.0225	0	0.0002	0.0011	0.0003	0.0027167	420	154602	rs8192875	0.0013	0.0013	0.0014	0.0013	0.0318	0.0013	0.0013	0.0304	0.0298	0.0104	0.0015	0	0.0318	0	0.0043	7.105e-05	0.0022	0.0005	0.0042	0.0042	0.0042	0.0042	0.0241	0.0039	0.0038	0.0207	0.0194	0.0105	0	0.0038	0	0.0241	0	0.0034	0.0001	0.0038	0.0004	0.013	0.53900	D	0.015	0.61642	D	0.999	0.77913	D	0.989	0.78396	D	0.000000	0.84330	D	0.041350	1	0.81001	D	2.44	0.70756	M	-0.38	0.69027	T	-2.99	0.62151	D	0.623	0.63798	-0.5207	0.67888	T	0.183	0.53057	T	9	0.018137366	0.00392	T	.	.	.	0.318	0.64008	.	.	0.962920958233	0.96252	0.8392428376780902	0.83884	0.467073840312	0.46092	0.593517065048	0.51990	T	0.550073	0.84749	D	-0.488738	0.00660	T	-0.457895	0.26830	T	0.0167354588121654	0.00430	T	0.875612	0.58729	D	0.42863122	0.62663	0.27245134	0.53156	0.42863122	0.62663	0.27245134	0.53155	-5.258	0.39526	T	.	.	0.225	0.45641	B	.	.	6.188484	0.94755	34	0.9990765024348216	0.97801	0.99671	0.98530	D	AEFGI	0.895981	0.83658	D	0.732088481328236	0.81736	7.592532	0.694870115816806	0.81987	7.657295	0.99999999955398	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.74	5.74	0.90070	7.264000	0.77831	7.714000	0.66958	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.355000	0.25773	0.0:1.0:0.0:0.0	19.920	0.97082	957	0.09725	.	.	.	.	.	.	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	0.010101	0.001359	0.005848	0.000000	0.000000	0.003049	0.000000	0.07143	109.44	34	chr8	58494506	.	C	T	109.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.282;DP=205;ExcessHet=0;FS=3.979;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21.89;ReadPosRankSum=-1.282;SOR=1.447	GT:AD:DP:GQ:PL	0/1:1,4:5:29:120,0,29	6	0	1	0
chr8	94194651	94194651	A	G	exonic	CDH17	.	nonsynonymous SNV	CDH17:NM_001144663:exon2:c.T35C:p.L12P,CDH17:NM_004063:exon2:c.T35C:p.L12P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	0.0325661254709	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.91255	T	0.115	0.92824	T	0.998	0.73220	D	0.909	0.64565	D	0.000714	0.42254	D	0.000000	0.999997	0.58761	D	1.585	0.39878	L	0.26	0.65747	T	-0.68	0.19509	N	0.831	0.83371	-0.4457	0.70542	T	0.355	0.71819	T	10	0.61814845	0.67824	D	0.032566	0.54358	D	0.305	0.62620	0.593	0.72247	0.905933795161	0.90499	0.7947709344029719	0.79430	0.105715252096	0.11951	0.45571911335	0.32725	T	0.12538	0.45105	T	0.219973	0.75774	D	0.0782002	0.75458	D	0.921487033367157	0.58115	D	0.634936	0.26722	T	0.42931345	0.62707	0.3765838	0.62777	0.42931345	0.62707	0.3765838	0.62777	-8.107	0.61798	D	.	.	0.249	0.55597	B	.;.;.;.	.;.;.;.	4.142148	0.62066	24.4	0.99134366332842261	0.53356	0.89479	0.49970	D	AEFDBI	0.724658	0.67389	D	0.533460958513611	0.69081	5.306683	0.499376966088003	0.67949	5.153089	0.487339258662822	0.20834	0.516011	0.20929	0	0.610034	0.51514	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.2	5.2	0.71720	4.006000	0.56798	10.975000	0.84560	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	1.0:0.0:0.0:0.0	11.370	0.48936	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	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr8	94194651	.	A	G	33.22	.	AC=2;AF=0.143;AN=14;DP=197;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr8	94538296	94538296	C	T	exonic	VIRMA	.	nonsynonymous SNV	VIRMA:NM_015496:exon3:c.G230A:p.S77N,VIRMA:NM_183009:exon3:c.G230A:p.S77N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0163592134294	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1285460893	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.567e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.006	0.63226	D	0.001	0.83351	D	0.969	0.56768	D	0.766	0.56676	P	0.000002	0.62929	N	0.100969	0.999472	0.48716	D	1.7	0.43825	L	0.79	0.49068	T	-0.76	0.24026	N	0.331	0.47115	-0.7911	0.55665	T	0.194	0.54754	T	10	0.28053245	0.45629	T	0.016359	0.37579	T	0.112	0.31546	0.277	0.23004	0.082315109003	0.07666	0.5264476848178173	0.52568	0.674519262934	0.59648	0.825277090073	0.85839	D	0.027878	0.20317	T	-0.12081	0.32992	T	-0.411311	0.32073	T	0.808607220649719	0.46948	D	0.756024	0.37907	T	0.32336655	0.54923	0.25810477	0.51538	0.32336655	0.54923	0.25810477	0.51537	-4.193	0.26650	T	.	.	0.401	0.65564	A	.;.	.;.	3.528875	0.49502	22.8	0.99385164581692809	0.62068	0.93864	0.59412	D	AEFBI	0.466537	0.51414	N	0.588624804301314	0.72466	5.809895	0.636146472912038	0.77583	6.707344	0.963344535164349	0.28684	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.57	5.57	0.84021	5.885000	0.69480	5.885000	0.50690	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.540	0.95264	739	0.53257	Virilizer, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	35	chr8	94538296	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=228;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr8	95057918	95057918	C	T	exonic	NDUFAF6	.	nonsynonymous SNV	NDUFAF6:NM_001354517:exon8:c.C650T:p.S217L,NDUFAF6:NM_001354521:exon8:c.C650T:p.S217L,NDUFAF6:NM_001330582:exon9:c.C707T:p.S236L,NDUFAF6:NM_152416:exon9:c.C983T:p.S328L,NDUFAF6:NM_001354515:exon10:c.C707T:p.S236L,NDUFAF6:NM_001354518:exon10:c.C650T:p.S217L,NDUFAF6:NM_001354519:exon10:c.C650T:p.S217L,NDUFAF6:NM_001354529:exon10:c.C527T:p.S176L,NDUFAF6:NM_001354531:exon10:c.C527T:p.S176L,NDUFAF6:NM_001354533:exon10:c.C527T:p.S176L,NDUFAF6:NM_001354516:exon11:c.C827T:p.S276L,NDUFAF6:NM_001354527:exon11:c.C527T:p.S176L,NDUFAF6:NM_001354528:exon11:c.C527T:p.S176L,NDUFAF6:NM_001354530:exon11:c.C527T:p.S176L,NDUFAF6:NM_001354532:exon11:c.C527T:p.S176L,NDUFAF6:NM_001354514:exon12:c.C707T:p.S236L,NDUFAF6:NM_001354522:exon12:c.C527T:p.S176L,NDUFAF6:NM_001354524:exon12:c.C527T:p.S176L,NDUFAF6:NM_001354525:exon12:c.C527T:p.S176L	Leigh syndrome due to mitochondrial complex I deficiency, Autosomal recessive, Mitochondrial	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.470	0.0243720923091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.046	0.53072	D	0.791	0.44643	P	0.313	0.41496	B	0.280469	0.03830	N	1.674980	1	0.81001	D	0.96	0.23930	L	-0.76	0.73417	T	-2.19	0.49352	N	0.349	0.39052	-0.5267	0.67666	T	0.450	0.78461	T	10	0.36003673	0.52657	T	0.024372	0.47357	T	0.470	0.76421	0.607	0.73945	0.763768793217	0.76161	0.5775264071291213	0.57681	0.16228382811	0.18309	0.506675839424	0.39758	T	0.030264	0.34105	T	0.312373	0.83922	D	0.210926	0.83712	D	0.741395890712738	0.42812	D	0.907809	0.67374	D	0.1580848	0.35584	0.15488759	0.36332	0.1580848	0.35584	0.15488759	0.36331	-9.651	0.71796	D	.	.	0.161	0.35519	B	.;.;.	.;.;.	4.229555	0.64035	24.7	0.99807602800296991	0.89174	0.92237	0.55252	D	AEFBI	0.403197	0.47698	N	0.297808461487516	0.56039	3.767967	0.413235580510379	0.62389	4.453411	0.999999998830363	0.74766	0.651	0.46895	0	0.653731	0.59785	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	6.04	6.04	0.98025	4.090000	0.57417	7.580000	0.60937	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.366	0.94454	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	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr8	95057918	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr8	103998243	103998243	G	A	exonic	RIMS2	.	nonsynonymous SNV	RIMS2:NM_001348499:exon15:c.G2479A:p.D827N,RIMS2:NM_001348500:exon15:c.G2479A:p.D827N,RIMS2:NM_001348505:exon15:c.G2620A:p.D874N,RIMS2:NM_001348509:exon15:c.G2479A:p.D827N,RIMS2:NM_014677:exon15:c.G2479A:p.D827N,RIMS2:NM_001348489:exon17:c.G3055A:p.D1019N,RIMS2:NM_001348494:exon17:c.G3196A:p.D1066N,RIMS2:NM_001348486:exon18:c.G3208A:p.D1070N,RIMS2:NM_001348487:exon18:c.G3067A:p.D1023N	.	442	1047	32	1	0	34	0.0159774	.	.	.	2821222	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.031	0.00636569129297	0.0034	0.00199681	0.0043	0.0011	0.0028	0	0.0047	0.0061	0.0067	0.0019	0.0040556	627	154602	rs182266368	0.0040	0.0041	0.0040	0.0041	0.0413	0.0039	0.0039	0.0370	0.0353	0.0015	0.0042	0.0158	0	0.0048	0.0413	0.0038	0.0055	0.0022	0.0035	0.0035	0.0036	0.0033	0.0045	0.0032	0.0031	0.0040	0.0039	0.0009	0	0.0040	0.0159	0	0.0037	0.0238	0.0045	0.0081	0.0010	0.468	0.10588	T	0.528	0.15554	T	0.328	0.33195	B	0.178	0.35748	B	.	.	.	.	1	0.81001	D	.	.	.	2.44	0.15843	T	0.16	0.05217	N	0.536	0.58798	-1.0343	0.19078	T	0.023	0.09604	T	9	0.005559504	0.00123	T	0.006366	0.16725	T	0.031	0.07369	.	.	0.200294437569	0.19612	.	.	.	.	.	.	.	0.059464	0.31122	T	-0.578152	0.00198	T	-0.599246	0.12875	T	0.0145750985717888	0.00299	T	0.913009	0.69301	D	.	.	.	.	.	.	.	.	-4.421	0.29840	T	.	.	0.105	0.29751	B	.;.;.;.	.;.;.;.	3.742474	0.53593	23.4	0.96533118320416411	0.30158	0.92319	0.55438	D	AEFI	0.647054	0.62237	D	-0.0542186269178862	0.39414	2.323939	0.117775738311659	0.45459	2.808616	0.772613454764295	0.23698	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.59	4.59	0.56297	4.990000	0.63609	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	16.328	0.82823	839	0.37672	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.034240	0.020202	0.032609	0.076023	0.000000	0.043103	0.024390	0.011364	0.1429	120.55	33	chr8	103998243	.	G	A	120.55	.	AC=2;AF=0.143;AN=14;DP=213;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=24.11;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,5:5:15:141,15,0	6	1	0	0
chr8	109459753	109459753	T	-	exonic	PKHD1L1	.	frameshift deletion	PKHD1L1:NM_177531:exon47:c.7163delT:p.T2389Qfs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	52.4	33	chr8	109459752	.	CT	C	52.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=1.38;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:63:63,0,63	6	0	1	0
chr8	132887272	132887272	G	A	exonic	TG	.	nonsynonymous SNV	TG:NM_003235:exon9:c.G1900A:p.G634R	Thyroid dyshormonogenesis 3, Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	.	307934	not_provided|Iodotyrosyl_coupling_defect	MedGen:C3661900|MONDO:MONDO:0010135,MedGen:C0342194,OMIM:274700,Orphanet:95716	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.617	0.0948808765826	0.0007	0.000599042	0.0005	0.0002	8.661e-05	0.0001	0	0.0007	0.0011	0.0006	0.0004334	67	154602	rs116417639	0.0003	0.0003	0.0003	0.0003	0.0014	0.0003	0.0003	0.0007	0.0005	9.059e-05	0.0001	0.0049	5.058e-05	5.666e-05	0.0014	0.0002	0.0006	0.0005	0.0004	0.0004	0.0004	0.0005	0.0017	0.0003	0.0003	0.0008	0.0006	0.0001	0	0.0004	0.0049	0	0	0	0.0004	0.0005	0.0017	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.997	0.86255	D	0.000020	0.62929	D	0.000000	0.907534	0.27576	N	3.005	0.85968	M	-0.49	0.70365	T	-3.47	0.67824	D	0.795	0.79118	-0.0956	0.80200	T	0.569	0.84399	D	10	0.1050317	0.19394	T	0.094881	0.76330	D	0.617	0.85091	0.908	0.98109	0.959596170649	0.95916	0.724816337779018	0.72425	0.446712088932	0.44543	0.515296280384	0.40965	T	0.232402	0.59896	T	-0.0505514	0.44364	T	0.0345481	0.72574	D	0.098228020766643	0.12162	T	0.985835	0.95215	D	0.79846925	0.83808	0.7388399	0.84564	0.79846925	0.83809	0.7388399	0.84565	-8.264	0.62855	D	0.7997467873114139	0.87673	0.212	0.44002	B	.	.	4.761724	0.76996	26.6	0.99932072681677397	0.99439	0.94567	0.61586	D	AEFBI	0.536302	0.55457	D	0.67852147316638	0.78225	6.828881	0.583601032363015	0.73764	6.024218	0.982417560930401	0.30395	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.03	5.03	0.67015	4.523000	0.60261	11.637000	0.93754	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.389000	0.26536	0.0:0.0:1.0:0.0	17.538	0.87736	845	0.36510	Thyroglobulin type-1|Thyroglobulin type-1|Thyroglobulin type-1|Thyroglobulin type-1|Thyroglobulin type-1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	100.44	35	chr8	132887272	.	G	A	100.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.24;DP=203;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=1.8;SOR=1.609	GT:AD:DP:GQ:PL	0/1:4,4:8:75:111,0,75	6	0	1	0
chr8	134602623	134602623	C	T	exonic	ZFAT	.	nonsynonymous SNV	ZFAT:NM_001174157:exon5:c.G910A:p.V304I,ZFAT:NM_001167583:exon6:c.G1060A:p.V354I,ZFAT:NM_001174158:exon6:c.G1060A:p.V354I,ZFAT:NM_020863:exon6:c.G1096A:p.V366I,ZFAT:NM_001029939:exon7:c.G1060A:p.V354I,ZFAT:NM_001289394:exon7:c.G1060A:p.V354I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.0189823997944	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1438595068	7.525e-06	8.209e-06	2.723e-06	1.238e-05	0.0002	4.04e-06	2.95e-06	3.09e-06	2.24e-06	0	0	0	0	0	0.0002	7.194e-06	1.656e-05	1.159e-05	6.569e-06	6.567e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.061	0.46910	T	0.275	0.25362	T	1.0	0.90584	D	0.99	0.78936	D	0.000001	0.84330	D	0.000000	1	0.81001	D	2.44	0.70756	M	2.99	0.09822	T	-0.56	0.17417	N	0.496	0.53445	-1.1028	0.03768	T	0.053	0.22462	T	10	0.36673957	0.53160	T	0.018982	0.41214	T	0.152	0.39956	0.336	0.32491	0.391930172978	0.38808	0.26717185339367727	0.26630	0.799136364055	0.66162	0.751927554607	0.74731	T	0.011943	0.33059	T	-0.201466	0.20594	T	-0.430314	0.29901	T	0.857394754886627	0.50815	D	0.940006	0.77317	D	0.14438641	0.33145	0.11376272	0.27457	0.14438641	0.33144	0.11376272	0.27456	-7.139	0.55568	T	.	.	0.107	0.26607	B	.;.;.;.;.;.	.;.;.;.;.;.	4.766402	0.77107	26.6	0.99891649564628471	0.96589	0.95911	0.66686	D	AEFDGBCI	0.883201	0.81191	D	0.618710291423407	0.74359	6.119259	0.673645280751791	0.80381	7.286544	1.0	0.98316	0.638212	0.43195	0	0.623108	0.53289	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.74	5.74	0.90070	7.905000	0.86479	5.937000	0.51416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.869000	0.41347	0.0:1.0:0.0:0.0	18.922	0.92500	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	65.44	37	chr8	134602623	.	C	T	65.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.524;DP=478;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.524;SOR=1.179	GT:AD:DP:GQ:PL	0/1:2,3:5:34:76,0,34	6	0	1	0
chr8	143082526	143082526	A	T	exonic	LY6L	.	nonsynonymous SNV	LY6L:NM_001368160:exon3:c.A292T:p.I98F	.	406	1089	27	0	0	27	0.0122449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0023	0.0103	0	0	.	0.0015	0.0085	0.0024	0.0004075	63	154602	rs145802655	0.0013	0.0012	0.0012	0.0014	0.0294	0.0012	0.0012	0.0257	0.0243	0.0006	0.0014	0.0002	2.798e-05	0.0002	0.0294	0.0011	0.0025	0.0022	0.0012	0.0012	0.0011	0.0012	0.0023	0.0010	0.0010	0.0015	0.0014	0.0002	0	0.0008	0	0.0002	9.407e-05	0.0374	0.0017	0.0062	0.0023	0.025	0.47320	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.53	0.30401	T	-1.76	0.41618	N	0.316	0.35620	.	.	.	.	.	.	.	0.008021623	0.00182	T	.	.	.	.	.	.	.	0.292423486923	0.28857	0.5642543798706255	0.56352	.	.	.	.	.	0.031623	0.22125	T	-0.549655	0.00293	T	-0.567555	0.15675	T	.	.	.	.	.	.	0.09920656	0.23409	0.093041025	0.21958	0.09920656	0.23409	0.093041025	0.21957	-3.049	0.10719	T	.	.	0.698	0.72885	P	.	.	1.647912	0.21029	15.02	0.83701868391607703	0.14872	0.01036	0.03877	N	AEFDBI	0.020495	0.00816	N	.	.	.	.	.	.	1.50220521436772E-4	0.05573	0.582742	0.33608	0	0.573888	0.26702	0	0.61531	0.40942	0	0.562822	0.20929	0	.	.	2.65	1.49	0.21966	-0.171000	0.09872	.	.	0.751000	0.87719	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.862:0.0:0.138:0.0	6.020	0.18850	988	0.01987	Ly-6 antigen/uPA receptor-like|Ly-6 antigen/uPA receptor-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	107.44	39	chr8	143082526	.	A	T	107.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.366;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=0.366;SOR=1.022	GT:AD:DP:GQ:PL	0/1:2,5:7:28:118,0,28	6	0	1	0
chr8	143562047	143562047	G	-	exonic	GSDMD	.	frameshift deletion	GSDMD:NM_024736:exon8:c.912delG:p.D305Tfs*74,GSDMD:NM_001166237:exon11:c.912delG:p.D305Tfs*74	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	46.4	32	chr8	143562046	.	TG	T	46.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.73;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PL	0/1:4,2:6:57:57,0,118	6	0	1	0
chr8	145054090	145054090	G	A	exonic	C8orf33	.	nonsynonymous SNV	C8orf33:NM_023080:exon5:c.G623A:p.R208H	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.00315359631095	7.7e-05	.	4.942e-05	0.0002	8.637e-05	0	0	2.997e-05	0	6.056e-05	5.17e-05	8	154602	rs201217995	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	9.833e-05	0.0002	0.0001	8.961e-05	0.0003	0	2.519e-05	0	0	0.0001	0.0002	2.319e-05	0.0002	0.0002	0.0002	0.0002	0.0015	0.0002	0.0001	0.0010	0.0009	0.0001	0	0.0015	0	0	0	0	8.819e-05	0	0	0.011	0.55530	D	0.138	0.33780	T	1.0	0.90584	D	0.997	0.86255	D	0.082926	0.20781	N	0.454617	1	0.08975	N	2.6	0.76081	M	.	.	.	-1.26	0.31778	N	0.073	0.04668	-0.9632	0.38567	T	0.199	0.55428	T	8	0.075226605	0.11600	T	0.003154	0.06876	T	0.201	0.48592	.	.	0.31077124679	0.30691	0.18116480256894793	0.18035	0.428538840391	0.43169	.	.	.	0.009849	0.08936	T	-0.283436	0.10307	T	-0.322947	0.42250	T	0.0784311890602112	0.09786	T	0.755224	0.37818	T	0.062405445	0.13029	0.048847742	0.07343	0.062405445	0.13029	0.048847742	0.07342	-5.874	0.45212	T	.	.	0.090	0.16494	B	.;.;.;.;.	.;.;.;.;.	2.513614	0.32468	19.05	0.99865774765879256	0.94366	0.10930	0.16291	N	AEFDBI	0.097459	0.19657	N	0.0355165213204404	0.43476	2.639844	-0.15173210364175	0.33343	1.906239	0.999999912828421	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.32	3.32	0.37134	0.231000	0.17651	4.003000	0.41092	0.654000	0.53741	0.012000	0.18695	1.000000	0.68203	0.082000	0.17360	0.0:0.0:1.0:0.0	10.396	0.43387	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	.	.	.	.	.	.	.	.	0.07143	63.44	33	chr8	145054090	.	G	A	63.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.524;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=1.65;SOR=1.179	GT:AD:DP:GQ:PL	0/1:2,3:5:34:74,0,34	6	0	1	0
chr9	368133	368133	C	T	exonic	DOCK8	.	nonsynonymous SNV	DOCK8:NM_001190458:exon14:c.C1591T:p.P531S,DOCK8:NM_001193536:exon14:c.C1591T:p.P531S,DOCK8:NM_203447:exon15:c.C1795T:p.P599S	Hyper-IgE recurrent infection syndrome, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	0.9954	0.614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.0145350648553	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1157264680	6.846e-07	1.368e-06	0	1.376e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	0.91255	T	0.217	0.92824	T	0.256	0.90584	B	0.304	0.84481	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.14	0.59869	M	2.49	0.15376	T	-4.16	0.75375	D	0.65	0.72656	-1.1218	0.02221	T	0.102	0.37718	T	10	0.26570332	0.44069	T	0.014535	0.34724	T	0.228	0.52768	0.39	0.41279	0.52891208781	0.52539	0.3287335140405198	0.32786	0.296124779412	0.31998	0.677745580673	0.63945	T	0.286771	0.65956	T	0.0704388	0.60904	D	0.0325322	0.72442	D	0.97446221113205	0.70519	D	0.951905	0.81545	D	0.2653864	0.49607	0.41181648	0.65402	0.2653864	0.49607	0.41181648	0.65402	-9.733	0.72297	D	0.2721222812356724	0.36591	0.113	0.38318	B	.;.;.;.	.;.;.;.	4.645457	0.73998	26.1	0.9969937515809042	0.80522	0.96428	0.69091	D	AEFDBI	0.768198	0.70383	D	0.282306345308737	0.55249	3.689326	0.334627646138535	0.57587	3.924919	0.999999999999764	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.15	5.15	0.70287	6.077000	0.70910	7.620000	0.62269	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.575000	0.30772	0.0:1.0:0.0:0.0	18.997	0.92794	822	0.40702	DHR-1 domain|DHR-1 domain|Dedicator of cytokinesis C, C2 domain;.;.;DHR-1 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	.	.	.	.	.	.	.	.	0.1429	74.22	35	chr9	368133	.	C	T	74.22	.	AC=2;AF=0.143;AN=14;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=28.79;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:368128_C_T:90,6,0:368128	6	1	0	0
chr9	26996392	26996392	T	C	exonic	LRRC19	.	nonsynonymous SNV	LRRC19:NM_022901:exon4:c.A703G:p.T235A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00656396087267	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.38863	T	0.193	0.28210	T	0.0	0.02946	B	0.001	0.04355	B	0.493386	0.05049	N	1.269810	0.999999	0.08975	N	1.3	0.32576	L	0.63	0.53088	T	-0.84	0.22944	N	0.108	0.09349	-1.0232	0.22671	T	0.083	0.32556	T	10	0.08307931	0.13781	T	0.006564	0.17301	T	0.042	0.11227	0.252	0.19067	0.407767136052	0.40396	0.33445682481864303	0.33358	0.0206115458999	0.02030	0.330926328897	0.15074	T	0.004718	0.04133	T	-0.229715	0.16688	T	-0.567746	0.15657	T	0.0395897030830383	0.03617	T	0.266473	0.04381	T	0.054214586	0.10369	0.059012014	0.11002	0.054214586	0.10369	0.059012014	0.11001	-4.783	0.34392	T	.	.	0.075	0.05711	B	.	.	0.682005	0.10504	7.219	0.89593283174994298	0.18931	0.07167	0.13193	N	AEFI	0.087509	0.17743	N	-0.980587776746416	0.09018	0.4251426	-0.951184074345337	0.10895	0.5517199	0.00515278449249875	0.10845	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.17	2.74	0.31352	0.156000	0.16200	0.271000	0.16657	-0.119000	0.14319	0.001000	0.13787	0.013000	0.20296	0.345000	0.25546	0.1524:0.0836:0.0:0.764	5.479	0.16009	493	0.76500	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr9	26996392	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr9	34093402	34093402	G	A	exonic	DCAF12	.	nonsynonymous SNV	DCAF12:NM_015397:exon7:c.C908T:p.A303V	.	424	1081	16	1	0	18	0.00825688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.471	.	0.0002	0.00399361	0.0022	0	0.0008	0	0	0.0004	0.0022	0.0139	0.001934	299	154602	rs149115505	0.0010	0.0010	0.0006	0.0015	0.0138	0.0010	0.0010	0.0131	0.0129	5.974e-05	0.0002	3.826e-05	0	0	0.0019	0.0002	0.0011	0.0138	0.0006	0.0006	0.0003	0.0009	0.0133	0.0005	0.0005	0.0107	0.0097	4.811e-05	0	0.0005	0	0	0	0	0.0002	0	0.0133	0.007	0.59928	D	0.013	0.63109	D	0.633	0.40250	P	0.118	0.32088	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.3	0.65703	M	-0.27	0.67367	T	-2.12	0.48184	N	0.921	0.92433	-0.4600	0.70067	T	0.276	0.64814	T	10	0.012073249	0.00261	T	.	.	.	0.471	0.76487	.	.	0.810726899296	0.80895	0.6850247409028064	0.68441	1.03043029366	0.75413	0.832992434502	0.87021	D	0.209426	0.56964	T	0.00687563	0.52599	T	0.248131	0.85529	D	0.0712406606931485	0.08824	T	0.960304	0.85063	D	0.2813473	0.51177	0.2866694	0.54676	0.2813473	0.51177	0.2866694	0.54675	-8.042	0.61356	D	.	.	0.817	0.78094	P	.	.	4.493645	0.70214	25.5	0.99857932726301568	0.93639	0.99295	0.94095	D	AEFDBI	0.909636	0.86652	D	0.533704854304489	0.69097	5.308765	0.627181203696604	0.76920	6.580939	0.999999999946936	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	9.225000	0.94383	11.840000	0.97786	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	17.868	0.88717	401	0.82673	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.004076	0.002924	0.000000	0.008621	0.003049	0.007576	0.07143	88.44	35	chr9	34093402	.	G	A	88.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.144;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=0.366;SOR=1.609	GT:AD:DP:GQ:PL	0/1:4,3:7:99:99,0,112	6	0	1	0
chr9	35403770	35403770	C	T	exonic	UNC13B	.	nonsynonymous SNV	UNC13B:NM_001371188:exon30:c.C3403T:p.P1135S,UNC13B:NM_001371187:exon33:c.C5710T:p.P1904S,UNC13B:NM_001371186:exon39:c.C4510T:p.P1504S,UNC13B:NM_006377:exon39:c.C4513T:p.P1505S,UNC13B:NM_001330653:exon40:c.C4570T:p.P1524S,UNC13B:NM_001371189:exon40:c.C12760T:p.P4254S	.	427	1080	15	0	0	15	0.00689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321	.	0.0002	0.00239617	0.0009	0	0.0008	0.0001	0	0.0002	0	0.0055	0.0007956	123	154602	rs142697917	0.0005	0.0005	0.0003	0.0006	0.0053	0.0005	0.0004	0.0049	0.0048	0	0.0002	0	0.0001	0	0.0035	0.0001	0.0009	0.0053	0.0005	0.0005	0.0002	0.0007	0.0100	0.0004	0.0004	0.0077	0.0069	0	0	0.0004	0	0.0002	0	0	0.0003	0	0.0100	0.02	0.50132	D	0.017	0.60337	D	0.999	0.77913	D	0.98	0.74843	D	0.000539	0.43581	D	0.244803	0.999718	0.49637	D	2.325	0.66631	M	-0.28	0.67543	T	-3.73	0.74348	D	0.298	0.54234	0.011	0.82483	D	0.520	0.82053	D	10	0.0092407465	0.00209	T	.	.	.	0.321	0.64318	.	.	0.76639022291	0.76425	0.6114429088853551	0.61076	0.745215368808	0.63480	0.558509230614	0.47058	T	0.171579	0.86721	T	-0.323132	0.06645	T	-0.235704	0.51217	T	0.0984215072423276	0.12183	T	0.98969	0.96662	D	0.14429174	0.33126	0.2677799	0.52640	0.14429174	0.33126	0.2677799	0.52639	-7.983	0.60954	D	.	.	0.332	0.66709	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.289450	0.65400	24.8	0.99924017160787093	0.98980	0.93374	0.58046	D	AEFBI	0.425451	0.49021	N	0.749501359117583	0.82872	7.871431	0.733176507760537	0.84894	8.421792	0.999997576502269	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.93	5.93	0.95888	3.653000	0.54186	7.738000	0.67953	0.599000	0.40250	0.965000	0.33920	1.000000	0.68203	0.974000	0.55675	0.0:1.0:0.0:0.0	20.337	0.98749	142	0.94345	.;C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	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	0.07143	55.44	35	chr9	35403770	.	C	T	55.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.022;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.93;ReadPosRankSum=-0.992;SOR=0.818	GT:AD:DP:GQ:PL	0/1:5,3:8:66:66,0,118	6	0	1	0
chr9	35660417	35660417	C	T	exonic	CCDC107	.	nonsynonymous SNV	CCDC107:NM_001195200:exon3:c.C275T:p.A92V,CCDC107:NM_001195201:exon3:c.C275T:p.A92V,CCDC107:NM_001195217:exon3:c.C275T:p.A92V,CCDC107:NM_174923:exon3:c.C275T:p.A92V	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.012947585568	.	.	0.0004	0	0.0035	0.0001	0	7.696e-05	0.0024	8.576e-05	0.0003169	49	154602	rs201836449	5.362e-05	5.746e-05	6.562e-05	4.148e-05	0.0016	4.365e-05	4.037e-05	0.0013	0.0012	0	0.0016	0	2.521e-05	0	0	2.706e-06	6.661e-05	1.176e-05	3.944e-05	3.94e-05	7.711e-05	0	0.0003	1.716e-05	1.13e-05	0.0001	8.291e-05	0	0	0.0003	0	0	0	0	1.47e-05	0	0	0.035	0.57480	D	0.02	0.60972	D	0.975	0.58077	D	0.6	0.50752	P	0.368658	0.13561	N	0.690035	0.999913	0.51042	D	1.15	0.29295	L	1.36	0.34452	T	-2.83	0.68532	D	0.383	0.45047	-1.0729	0.08787	T	0.101	0.37366	T	10	0.014423072	0.00303	T	0.012948	0.31963	T	0.096	0.27654	0.481	0.56142	0.385578977469	0.38175	0.29728151792494306	0.29641	0.297192746947	0.32101	0.317612349987	0.13059	T	0.100843	0.40703	T	-0.487362	0.00672	T	-0.491852	0.23198	T	0.0668245662833898	0.08197	T	0.80002	0.44558	T	0.15870422	0.35690	0.16469891	0.38139	0.15870422	0.35689	0.16469891	0.38139	-4.2	0.31932	T	.	.	0.127	0.28027	B	.;.;.;.;.;.	.;.;.;.;.;.	2.962140	0.39448	21.0	0.98914036038945508	0.48436	0.26274	0.22945	N	AEFDBCI	0.186270	0.31358	N	-0.112549154606584	0.36846	2.135352	-0.211011706399124	0.31138	1.759513	0.99999971531417	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.43	4.43	0.52967	2.012000	0.40551	2.528000	0.33154	0.594000	0.32500	0.045000	0.21207	0.874000	0.27626	0.168000	0.20914	0.0:1.0:0.0:0.0	12.858	0.57284	231	0.90996	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr9	35660417	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr9	35662595	35662595	A	T	exonic	ARHGEF39	.	nonsynonymous SNV	ARHGEF39:NM_032818:exon7:c.T820A:p.C274S	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353	0.00834421356714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	8.993e-07	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	8.993e-07	3.311e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.209	0.26798	T	0.932	0.51990	P	0.387	0.44046	B	0.000000	0.84330	D	0.044227	0.999989	0.81001	D	2.28	0.64929	M	1.0	0.41392	T	-7.24	0.94326	D	0.558	0.58287	-0.9128	0.46505	T	0.121	0.42208	T	10	0.877632	0.87061	D	0.008344	0.22080	T	0.353	0.67418	0.817	0.93127	0.320256813643	0.31633	0.5924096591908586	0.59170	1.04129319823	0.75806	0.546586155891	0.45376	T	0.050329	0.28563	T	0.160485	0.70245	D	-0.00725087	0.69865	D	0.996269464492798	0.88992	D	0.720728	0.33361	T	0.7802714	0.82670	0.8170127	0.89347	0.7802714	0.82672	0.8170127	0.89347	-9.852	0.73021	D	.	.	0.406	0.59909	A	.	.	3.949093	0.57843	23.9	0.99347823416234471	0.60452	0.68690	0.33898	D	AEFDBCI	0.385893	0.46646	N	0.441503966016217	0.63722	4.611568	0.50065007114702	0.68034	5.164755	0.999999981516188	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.606735	0.37207	0	0.662433	0.64102	0	.	.	5.95	5.95	0.96415	3.083000	0.49833	8.186000	0.76784	0.745000	0.86679	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	12.808	0.57003	229	0.91079	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	.	.	.	.	.	.	.	.	0.1429	69.22	35	chr9	35662595	.	A	T	69.22	.	AC=2;AF=0.143;AN=14;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=34.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:85,6,0	6	1	0	0
chr9	35740931	35740931	T	C	exonic	GBA2	.	nonsynonymous SNV	GBA2:NM_001330660:exon5:c.A920G:p.N307S,GBA2:NM_020944:exon5:c.A920G:p.N307S	Spastic paraplegia 46, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.270	0.0521185696881	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.21718	T	0.176	0.29843	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.205	0.62170	M	.	.	.	-2.94	0.64478	D	0.813	0.80866	-0.2722	0.75752	T	0.438	0.77733	T	9	0.81944734	0.81159	D	0.052119	0.64939	D	0.270	0.58507	.	.	0.640935244609	0.63797	0.6768186916343968	0.67620	0.623771184551	0.56604	0.536118865013	0.43898	T	0.621184	0.88128	D	-0.0505569	0.44361	T	-0.310398	0.43615	T	0.836964676258882	0.49082	D	0.948505	0.80194	D	0.2854741	0.51568	0.25593233	0.51284	0.2854741	0.51568	0.25593233	0.51283	-7.385	0.57653	T	0.19543923813306965	0.25783	0.377	0.62825	A	.;.	.;.	3.649919	0.51800	23.1	0.99833157591070931	0.91456	0.97346	0.74169	D	AEFDBCI	0.911934	0.87187	D	0.746197662101971	0.82657	7.816971	0.729192382702528	0.84593	8.335976	0.999999999999989	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.95	5.95	0.96415	7.847000	0.85186	7.956000	0.75945	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.410	0.83546	94	0.96106	Glycosyl-hydrolase family 116, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	49.44	36	chr9	35740931	.	T	C	49.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.967;DP=240;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.94;ReadPosRankSum=1.83;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,2:10:60:0|1:35740931_T_C:60,0,330:35740931	6	0	1	0
chr9	35740940	35740940	C	T	exonic	GBA2	.	nonsynonymous SNV	GBA2:NM_001330660:exon5:c.G911A:p.G304D,GBA2:NM_020944:exon5:c.G911A:p.G304D	Spastic paraplegia 46, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0109171930528	.	.	8.24e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs781401822	6.841e-07	6.84e-07	0	1.375e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.25055	T	0.165	0.31629	T	0.957	0.66517	D	0.837	0.62516	P	0.000022	0.55875	D	0.157480	0.999997	0.58761	D	1.84	0.48285	L	.	.	.	-3.65	0.69950	D	0.751	0.75009	-0.6336	0.63418	T	0.304	0.67510	T	9	0.7602317	0.76289	D	0.010917	0.28000	T	0.144	0.38394	.	.	0.622847267328	0.61978	0.8271134895462563	0.82669	0.607307371854	0.55543	0.667712807655	0.62512	T	0.615563	0.87878	D	-0.0815635	0.39462	T	-0.129235	0.61036	T	0.619977295398712	0.37205	D	0.90391	0.66280	D	0.27556726	0.50620	0.290826	0.55107	0.27556726	0.50619	0.290826	0.55106	-10.02	0.75265	D	0.2311444037605442	0.31278	0.096	0.15251	B	.;.	.;.	3.724832	0.53253	23.3	0.9977144634247348	0.85918	0.93221	0.57641	D	AEFDBCI	0.547183	0.56098	D	0.542330508732232	0.69615	5.382385	0.52618056158549	0.69759	5.40623	0.999999999218782	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.95	5.05	0.67566	4.023000	0.56921	5.962000	0.51841	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.952000	0.50033	0.0:0.8591:0.0:0.1409	10.743	0.45363	94	0.96106	Glycosyl-hydrolase family 116, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	46.44	36	chr9	35740940	.	C	T	46.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.66;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.22;ReadPosRankSum=0.66;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,2:11:57:0|1:35740931_T_C:57,0,352:35740931	6	0	1	0
chr9	68780918	68780918	G	A	exonic	FAM122A	.	nonsynonymous SNV	FAM122A:NM_138333:exon1:c.G754A:p.G252R	.	423	1088	11	0	0	11	0.00502972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0277429215411	0.0005	0.000399361	0.0011	0	0.0004	0	0.0002	0.0011	0.0011	0.0031	0.0009767	151	154602	rs200554338	0.0007	0.0007	0.0006	0.0008	0.0030	0.0006	0.0006	0.0027	0.0026	2.987e-05	0.0006	0.0056	0	7.488e-05	0.0029	0.0004	0.0009	0.0030	0.0004	0.0004	0.0004	0.0005	0.0012	0.0003	0.0003	0.0005	0.0004	0	0	0.0003	0.0046	0	0	0.0034	0.0005	0.0014	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	0.000040	0.55875	D	0.161453	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	-0.5457	0.66949	T	0.265	0.63652	T	10	0.010119289	0.00226	T	0.027743	0.50513	D	0.246	0.55340	.	.	0.253981072376	0.25009	0.36986581751897574	0.36900	1.80813242872	0.91769	0.648295760155	0.59744	T	.	.	.	-0.218111	0.18252	T	-0.0891288	0.64227	T	0.0561491323691788	0.06549	T	0.926707	0.72990	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.137794	0.86009	28.8	0.99872591447364489	0.94989	0.86635	0.45957	D	AEFDGBCI	0.766183	0.70244	D	0.695315502889757	0.79327	7.054033	0.663129149016029	0.79592	7.114998	0.999999999355692	0.74766	0.627647	0.40530	0	0.685571	0.66316	0	0.672317	0.60874	0	0.638787	0.57140	0	.	.	4.42	4.42	0.52775	6.927000	0.75657	11.766000	0.95743	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	12.838	0.57171	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	0.002518	0.000000	0.005435	0.005848	0.000000	0.000000	0.006098	0.000000	0.1429	121.55	33	chr9	68780918	.	G	A	121.55	.	AC=2;AF=0.143;AN=14;DP=230;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=24.31;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,5:5:15:142,15,0	6	1	0	0
chr9	75077540	75077540	G	A	exonic	NMRK1	.	stopgain	NMRK1:NM_001127603:exon3:c.C70T:p.Q24X,NMRK1:NM_017881:exon3:c.C70T:p.Q24X,NMRK1:NM_001330678:exon4:c.C82T:p.Q28X,NMRK1:NM_001330679:exon4:c.C82T:p.Q28X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000077	0.52346	D	0.132235	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.197	0.21710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.504217	0.94413	D	0.486496	0.94335	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	8.627221	0.97806	38	0.99819464100392286	0.90238	0.67138	0.33324	D	AEFCI	0.153157	0.27797	N	0.989876260535286	0.95425	13.60715	0.863088741057718	0.93755	12.25886	0.99999894393074	0.74766	0.743674	0.98306	0	0.630245	0.54622	0	0.630245	0.45026	0	0.584449	0.35598	0	.	.	6.06	6.06	0.98340	1.819000	0.38660	7.384000	0.58471	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.8556:0.1444	14.849	0.69914	746	0.52331	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1429	33.22	19	chr9	75077540	.	G	A	33.22	.	AC=2;AF=0.143;AN=14;DP=163;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr9	76708003	76708003	A	G	exonic	PRUNE2	.	nonsynonymous SNV	PRUNE2:NM_001308047:exon8:c.T4271C:p.L1424P,PRUNE2:NM_001308048:exon8:c.T4271C:p.L1424P,PRUNE2:NM_015225:exon8:c.T4271C:p.L1424P	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	.	0.0005	0.00179712	0.0006	0.0004	0.0011	0	0	0.0007	0.0011	0.0003	0.0005757	89	154602	rs189966394	0.0005	0.0005	0.0005	0.0006	0.0055	0.0005	0.0005	0.0040	0.0035	0.0006	0.0016	0.0019	0	0	0.0055	0.0004	0.0015	0.0005	0.0011	0.0011	0.0010	0.0012	0.0056	0.0009	0.0009	0.0047	0.0043	0.0005	0	0.0056	0.0012	0	0	0.0102	0.0005	0.0052	0.0012	0.188	0.21304	T	0.234	0.26386	T	0.105	0.25993	B	0.042	0.24114	B	0.544756	0.11499	N	0.706764	0.999961	0.18878	N	1.81	0.47622	L	0.36	0.57880	T	-2.29	0.50992	N	0.338	0.37923	-1.0529	0.13601	T	0.048	0.20395	T	10	0.0045550764	0.00094	T	.	.	.	0.249	0.55752	.	.	0.360961692134	0.35713	0.2745534859129065	0.27368	0.145096573638	0.16401	0.218930855393	0.01249	T	0.006717	0.21464	T	-0.289094	0.09728	T	-0.223418	0.52406	T	0.00788120997306854	0.00093	T	0.529047	0.17505	T	0.14368117	0.33013	0.13607618	0.32563	0.14368117	0.33013	0.13607618	0.32562	-4.588	0.32020	T	.	.	0.095	0.14842	B	.;.;.	.;.;.	0.393960	0.07656	4.323	0.90570007146730847	0.19824	0.08616	0.14520	N	AEFBCI	0.101035	0.20301	N	-0.956588022208863	0.09546	0.4522319	-1.0015258764065	0.09752	0.4870045	0.999583062797159	0.40607	0.638212	0.43195	0	0.596491	0.49125	0	0.653264	0.51672	0	0.616125	0.45549	0	.	.	5.29	-0.048	0.13170	0.127000	0.15617	1.215000	0.24935	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.042000	0.14466	0.5815:0.0:0.2936:0.1249	5.104	0.14107	921	0.19240	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011581	0.050505	0.008152	0.005848	0.000000	0.000000	0.006098	0.000000	0.07143	116.44	50	chr9	76708003	.	A	G	116.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.465;DP=466;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.63;ReadPosRankSum=0.366;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,6:7:21:127,0,21	6	0	1	0
chr9	76708790	76708790	C	T	exonic	PRUNE2	.	nonsynonymous SNV	PRUNE2:NM_001308047:exon8:c.G3484A:p.E1162K,PRUNE2:NM_001308048:exon8:c.G3484A:p.E1162K,PRUNE2:NM_015225:exon8:c.G3484A:p.E1162K	.	.	.	.	.	.	.	.	.	.	.	3897950	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.127	0.0451605441588	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1286143216	4.105e-06	4.104e-06	2.723e-06	5.501e-06	3.478e-05	1.48e-06	9.7e-07	9.24e-06	4.56e-06	2.987e-05	0	0	0	0	0	1.799e-06	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.15	0.32461	T	0.983	0.60381	D	0.306	0.41250	B	0.000018	0.62929	D	0.000000	0.999108	0.21619	N	2.275	0.64647	M	0.09	0.61443	T	-2.34	0.51811	N	0.589	0.60918	-0.9060	0.47332	T	0.184	0.53240	T	10	0.56094867	0.64784	D	0.045161	0.61848	D	0.205	0.49236	0.198	0.11110	0.68520084859	0.68251	0.211733937665082	0.21089	0.440588710916	0.44061	0.407256066799	0.26077	T	0.014167	0.22806	T	-0.00481167	0.50987	T	-0.147834	0.59435	T	0.66737300157547	0.39221	D	0.90001	0.65253	D	0.34907147	0.56994	0.27601907	0.53543	0.34907147	0.56994	0.27601907	0.53542	-3.974	0.23413	T	.	.	0.133	0.28807	B	.;.;.	.;.;.	3.189814	0.43335	21.7	0.99663057274965383	0.78074	0.60171	0.31120	D	AEFDBCI	0.107948	0.21491	N	0.0144683067049533	0.42513	2.562926	0.0402142871881247	0.41602	2.502079	0.999244084471061	0.38873	0.638212	0.43195	0	0.563428	0.19063	0	0.653264	0.51672	0	0.586402	0.36253	0	.	.	6.08	6.08	0.98982	2.242000	0.42756	5.979000	0.52135	0.599000	0.40250	0.913000	0.31760	1.000000	0.68203	0.007000	0.07825	0.0:0.8804:0.0:0.1196	11.594	0.50216	935	0.14827	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	142.44	50	chr9	76708790	.	C	T	142.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.967;DP=521;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=-0.431;SOR=1.329	GT:AD:DP:GQ:PL	0/1:4,6:10:69:153,0,69	6	0	1	0
chr9	85632679	85632679	C	A	exonic	AGTPBP1	.	nonsynonymous SNV	AGTPBP1:NM_001286715:exon13:c.G2154T:p.R718S,AGTPBP1:NM_001286717:exon13:c.G2034T:p.R678S,AGTPBP1:NM_001330701:exon14:c.G1998T:p.R666S,AGTPBP1:NM_015239:exon14:c.G1878T:p.R626S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.342	0.0709317087445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.006	0.72224	D	0.925	0.90584	P	0.743	0.75477	P	0.000000	0.84330	D	0.000000	0.99991	0.81001	D	2.965	0.85198	M	2.11	0.19860	T	-4.83	0.80943	D	0.879	0.88246	-0.5995	0.64838	T	0.261	0.63242	T	10	0.79205155	0.78746	D	0.070932	0.71135	D	0.342	0.66392	0.507	0.60232	0.432154444652	0.42834	0.8077151008729652	0.80726	1.78073540629	0.91395	0.766228675842	0.76858	T	0.462215	0.79867	T	0.211448	0.74965	D	0.0659535	0.74641	D	0.986129224300385	0.76925	D	0.956304	0.84742	D	0.8134558	0.84782	0.55320054	0.74162	0.8134558	0.84784	0.55320054	0.74163	-9.914	0.74745	D	.	.	0.998	0.97238	P	.;.;.;.	.;.;.;.	2.962293	0.39457	21.0	0.99661978750085467	0.78011	0.96723	0.70595	D	AEFGBI	0.519372	0.54468	D	0.356961598407992	0.59109	4.087593	0.297175822973728	0.55373	3.700519	0.39429635169474	0.20074	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.633917	0.49826	0	.	.	6.03	2.69	0.30923	0.577000	0.23461	-0.007000	0.13116	-0.190000	0.09434	0.999000	0.42656	0.791000	0.26863	0.941000	0.48210	0.0:0.6312:0.0:0.3688	9.777	0.39791	757	0.50970	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	21	chr9	85632679	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=187;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr9	89379516	89379516	C	A	exonic	SEMA4D	.	nonsynonymous SNV	SEMA4D:NM_001371194:exon16:c.G1777T:p.V593L,SEMA4D:NM_001371195:exon17:c.G1777T:p.V593L,SEMA4D:NM_001371197:exon17:c.G1777T:p.V593L,SEMA4D:NM_001371196:exon18:c.G1777T:p.V593L,SEMA4D:NM_006378:exon18:c.G1777T:p.V593L	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00337772219152	.	.	2.472e-05	0	0	0	0	0	0.0011	0.0001	1.94e-05	3	154602	rs779970961	8.209e-06	8.209e-06	6.806e-06	9.625e-06	9.275e-05	4.38e-06	3.46e-06	4.578e-05	3.272e-05	0	0	0	0	0	0	3.597e-06	0	9.275e-05	1.971e-05	1.969e-05	0	4.031e-05	0.0004	5.24e-06	2.45e-06	7.299e-05	3.032e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.3	0.14497	T	0.305	0.20037	T	0.0	0.02946	B	0.001	0.04355	B	0.676767	0.10293	N	0.867228	1	0.19363	N	1.17	0.29769	L	1.96	0.22270	T	-0.65	0.18877	N	0.052	0.02861	-0.9912	0.32295	T	0.031	0.13155	T	10	0.044061244	0.03322	T	0.003378	0.07572	T	0.056	0.15993	0.442	0.49811	0.082315109003	0.07666	0.44377151672493514	0.44295	0.235981557682	0.26139	0.30881229043	0.11727	T	0.067392	0.33191	T	-0.448259	0.01156	T	-0.679016	0.07044	T	0.0470688077652842	0.04978	T	0.589541	0.21661	T	0.0934569	0.21950	0.049111467	0.07436	0.0934569	0.21950	0.049111467	0.07435	-3.26	0.13227	T	.	.	0.099	0.16582	B	.;.;.;.	.;.;.;.	1.219978	0.16140	12.34	0.93251265476967538	0.22941	0.23759	0.22179	N	AEFDBCI	0.150443	0.27474	N	-0.787137070839019	0.13645	0.6736646	-0.743646120870504	0.15879	0.837288	0.998656536550379	0.37392	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.9	3.02	0.33970	1.395000	0.34129	1.659000	0.27889	0.599000	0.40250	0.001000	0.13787	0.002000	0.18203	0.214000	0.22296	0.154:0.6908:0.0:0.1552	5.977	0.18617	974	0.05496	Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|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	.	.	.	.	.	.	.	.	0.1429	33.22	38	chr9	89379516	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=308;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K,SPTLC1:NM_006415:exon4:c.C306G:p.N102K,SPTLC1:NM_178324:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.845	0.399896509883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0068	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0012	4.477e-05	0.0003	0.0002	1.873e-05	0.0009	0.0013	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.73	0.95458	D	-5.47	0.87143	D	0.946	0.96984	1.004	0.97255	D	0.941	0.98064	D	10	0.97626525	0.97408	D	0.399897	0.93374	D	0.845	0.95175	0.798	0.91802	0.945416172085	0.94484	0.9614716476571766	0.96133	1.13632118652	0.78799	0.737543225288	0.72611	T	0.97255	0.99710	D	0.219858	0.75763	D	0.0780339	0.75447	D	0.995089709758759	0.86803	D	0.978602	0.92442	D	0.9519136	0.96460	0.8880654	0.94130	0.9519136	0.96460	0.8880654	0.94130	-14.216	0.93737	D	0.860758186576928	0.92428	0.988	0.93037	P	.;.	.;.	4.020987	0.59386	24.1	0.9926344721683531	0.57289	0.83408	0.42527	D	AEFBI	0.256177	0.37516	N	0.211284656944223	0.51746	3.353416	0.0637648407406021	0.42742	2.59063	0.00398181740670549	0.10368	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	2.15	0.26590	1.717000	0.37612	4.300000	0.42938	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3508:0.0:0.6492:0.0	10.600	0.44552	892	0.26670	Aminotransferase, class I/classII;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4599.95	248	chr9	92080918	.	G	C	4599.95	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-2.454;DP=1972;ExcessHet=14.2834;FS=456.727;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.56;ReadPosRankSum=0.555;SOR=12.059	GT:AD:DP:GQ:PL	0/1:15,4:19:9:9,0,251	0	0	7	0
chr9	104504509	104504509	G	A	exonic	OR13F1	.	nonsynonymous SNV	OR13F1:NM_001004485:exon1:c.G247A:p.A83T	.	.	.	.	.	.	.	.	.	.	.	3570451	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.010	0.00143780746462	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1004628845	6.157e-06	6.157e-06	4.084e-06	8.251e-06	8.094e-06	2.9e-06	2.1e-06	3.81e-06	2.76e-06	0	0	0	0	0	0	8.094e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.24955	T	0.112	0.37037	T	0.262	0.31549	B	0.066	0.27432	B	0.532299	0.05265	N	1.284460	1	0.08975	N	1.315	0.32790	L	7.57	0.00366	T	-0.08	0.08187	N	0.044	0.01658	-1.0060	0.28156	T	0.001	0.00188	T	10	0.04950899	0.04550	T	0.001438	0.02164	T	0.010	0.01040	0.41	0.44559	0.0954503805726	0.09146	0.09549209868995323	0.09481	0.0324965836204	0.03398	0.208759307861	0.00760	T	3.11E-4	0.00083	T	-0.399702	0.02326	T	-0.81192	0.01622	T	0.0654092654585838	0.07992	T	0.143286	0.01166	T	0.1089516	0.25758	0.06915203	0.14534	0.1089516	0.25758	0.06915203	0.14534	-6.056	0.46745	T	.	.	0.089	0.12228	B	.	.	0.810137	0.11810	8.381	0.94022595398216835	0.24131	0.02217	0.06454	N	AEFI	0.035356	0.04537	N	-1.08429401584641	0.06932	0.3205337	-1.13544745665806	0.07032	0.3405747	5.08507694475033E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.91	-3.0	0.05148	-2.274000	0.01245	-3.316000	0.02882	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.995000	0.73285	0.4067:0.1515:0.2877:0.1541	1.089	0.01557	595	0.68488	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	.	.	.	.	.	.	.	.	0.1429	74.22	33	chr9	104504509	.	G	A	74.22	.	AC=2;AF=0.143;AN=14;DP=663;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=29.26;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:104504493_C_G:90,6,0:104504493	6	1	0	0
chr9	104694802	104694802	T	G	exonic	OR13D1	.	nonsynonymous SNV	OR13D1:NM_001004484:exon1:c.T381G:p.I127M	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	.	0.00139776	0.0012	9.61e-05	8.637e-05	0.0151	0	4.495e-05	0	0.0006	0.0009961	154	154602	rs145961687	0.0004	0.0004	0.0004	0.0004	0.0091	0.0003	0.0003	0.0083	0.0080	5.974e-05	2.236e-05	0.0003	0.0091	1.872e-05	0.0009	7.644e-05	0.0003	0.0006	0.0005	0.0005	0.0005	0.0006	0.0122	0.0004	0.0004	0.0098	0.0089	2.405e-05	0	6.54e-05	0.0006	0.0122	0	0	2.94e-05	0.0005	0.0017	0.097	0.30943	T	0.223	0.25670	T	0.099	0.25639	B	0.053	0.25678	B	0.352431	0.13795	N	0.634263	1	0.08975	N	0.14	0.08730	N	7.57	0.00366	T	-0.24	0.10833	N	0.134	0.13055	-0.9770	0.35683	T	0.001	0.00188	T	10	0.0055148005	0.00122	T	.	.	.	0.008	0.00669	.	.	0.101711395817	0.09552	0.040797502088583945	0.04024	0.0261378392519	0.02667	0.180021569133	0.00094	T	0.001646	0.01075	T	-0.654041	0.00068	T	-0.699937	0.05829	T	0.0184980049822226	0.00566	T	0.119888	0.00926	T	0.08140499	0.18704	0.07149282	0.15317	0.08140499	0.18704	0.07149282	0.15316	-4.353	0.28914	T	.	.	0.074	0.05060	B	.;.	.;.	1.030447	0.14106	10.68	0.14321184457444314	0.00312	0.09327	0.15105	N	AEFDGI	0.091556	0.18544	N	-1.08299022590462	0.06956	0.3217421	-1.11684723541901	0.07378	0.358653	1.0271264249676E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.75	2.57	0.29928	-1.398000	0.02615	-2.992000	0.03160	-0.179000	0.10443	0.000000	0.06391	0.000000	0.08366	0.151000	0.20341	0.0:0.0:0.2022:0.7978	8.26	0.30940	883	0.28872	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	265.44	56	chr9	104694802	.	T	G	265.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.486;DP=394;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.42;ReadPosRankSum=1.11;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,10:13:51:276,0,51	6	0	1	0
chr9	107487143	107487143	C	G	exonic	KLF4	.	nonsynonymous SNV	KLF4:NM_001314052:exon3:c.G1251C:p.R417S,KLF4:NM_004235:exon4:c.G1149C:p.R383S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.015437981387	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1055601652	1.847e-05	1.847e-05	2.586e-05	1.1e-05	2.338e-05	1.265e-05	1.084e-05	1.627e-05	1.382e-05	0	0	0	0	0	0	2.338e-05	1.656e-05	0	3.285e-05	3.283e-05	3.854e-05	2.69e-05	7.349e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.349e-05	0	0	0.0	0.91255	D	0.003	0.76473	D	0.461	0.36363	P	0.324	0.41853	B	0.005540	0.32720	N	0.140255	0.999867	0.50061	D	.	.	.	3.18	0.07478	T	-5.95	0.89152	D	0.552	0.69300	-1.1522	0.00961	T	0.060	0.25163	T	10	0.3209747	0.49466	T	0.015438	0.36172	T	0.175	0.44197	.	.	0.513042017857	0.50944	0.6226012613771811	0.62193	0.27921572844	0.30403	0.843757450581	0.88667	D	0.291788	0.66453	T	-0.00522167	0.50931	T	-0.13762	0.60324	T	0.980601906776428	0.73449	D	0.90231	0.66640	D	.	.	.	.	.	.	.	.	-11.991	0.84808	D	.	.	0.843	0.79411	P	.;.	.;.	4.093493	0.60986	24.3	0.99175183488676577	0.54498	0.60981	0.31351	D	AEFDGBCI	0.545014	0.55970	D	0.128078119235517	0.47775	2.998647	0.0812111553778328	0.43605	2.658757	0.99999910092135	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.503968	0.08637	0	0.56751	0.32155	0	.	.	5.57	2.31	0.27816	-0.098000	0.10993	2.574000	0.33380	0.599000	0.40250	0.819000	0.29975	1.000000	0.68203	0.999000	0.91618	0.0:0.7195:0.0:0.2805	10.659	0.44886	747	0.52260	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	58.44	34	chr9	107487143	.	C	G	58.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.645;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=1.65;SOR=0.223	GT:AD:DP:GQ:PL	0/1:2,3:5:68:69,0,68	6	0	1	0
chr9	111785926	111785926	C	T	exonic	SHOC1	.	nonsynonymous SNV	SHOC1:NM_001378211:exon3:c.G155A:p.R52K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00982530020294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.26519	T	0.0	0.92824	D	.	.	.	.	.	.	0.739388	0.09789	N	0.842164	1	0.81001	D	.	.	.	1.07	0.39586	T	-0.42	0.14193	N	0.074	0.04790	-1.0257	0.21853	T	0.051	0.21650	T	9	0.05960405	0.07189	T	0.009825	0.25608	T	0.027	0.05988	0.243	0.17677	0.171388866994	0.16791	.	.	.	.	.	.	.	.	.	.	-0.349256	0.04774	T	-0.739458	0.03913	T	0.19066447019577	0.19883	T	0.360464	0.08297	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.23605	B	.	.	0.716092	0.10848	7.528	0.97664371873526923	0.35218	0.21825	0.21537	N	AEFI	0.050075	0.08717	N	-0.83367359060134	0.12455	0.6072414	-0.796703503127568	0.14575	0.7622901	0.0286760787035512	0.13845	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.04	-3.37	0.04591	-0.626000	0.05624	-0.210000	0.10862	-0.223000	0.07921	0.582000	0.27602	0.017000	0.20586	0.904000	0.43992	0.1351:0.2832:0.2666:0.3151	1.069	0.01517	378	0.83833	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	55.44	34	chr9	111785926	.	C	T	55.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.473;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.04;ReadPosRankSum=0.456;SOR=0.495	GT:AD:DP:GQ:PL	0/1:7,4:11:66:66,0,148	6	0	1	0
chr9	122724108	122724108	C	T	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.C119T:p.A40V	.	435	1071	16	0	0	16	0.00741427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.000748963533408	0.0027	0.000599042	0.0023	0.0005	0.0021	0	0.0009	0.0036	0.0066	6.056e-05	0.0023092	357	154602	rs146545088	0.0030	0.0030	0.0030	0.0031	0.0146	0.0030	0.0029	0.0121	0.0111	0.0010	0.0031	0.0038	2.519e-05	0.0007	0.0146	0.0034	0.0035	0.0002	0.0026	0.0026	0.0029	0.0022	0.0039	0.0024	0.0023	0.0035	0.0034	0.0005	0	0.0038	0.0052	0	0.0008	0.0238	0.0039	0.0052	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.594232	0.05609	N	1.287100	1	0.08975	N	-2.41	0.00072	N	7.54	0.00377	T	1.81	0.00507	N	0.038	0.01203	-1.0034	0.28933	T	0.000	0.00114	T	10	0.0036976635	0.00068	T	7.49E-4	0.00529	T	0.105	0.29889	.	.	0.369495900351	0.36555	0.03103591808030237	0.03052	0.108973934353	0.12287	0.209076374769	0.00773	T	0.00488	0.04301	T	-0.714905	0.00030	T	-0.793998	0.02057	T	0.00537569386103117	0.00058	T	0.484852	0.14769	T	0.038250286	0.05060	0.050322346	0.07875	0.038250286	0.05060	0.050322346	0.07875	0.279	0.00264	T	.	.	0.064	0.01668	B	.	.	0.301056	0.06766	3.284	0.097914429460664407	0.00108	0.00125	0.00780	N	AEFGBI	0.021972	0.01042	N	-1.54536688185012	0.01562	0.06823426	-1.37935589123372	0.03473	0.1620622	0.122632238763286	0.16918	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.94	2.8	0.31881	4.085000	0.57380	1.978000	0.30020	-0.876000	0.02500	0.519000	0.27104	0.034000	0.21380	0.152000	0.20376	0.0:0.0967:0.0:0.9033	8.539	0.32540	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	0.015121	0.015152	0.023098	0.014706	0.000000	0.017241	0.006098	0.000000	0.07143	45.44	33	chr9	122724108	.	C	T	45.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.153;DP=306;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.01;MQRankSum=0.349;QD=4.13;ReadPosRankSum=0.778;SOR=1.179	GT:AD:DP:GQ:PL	0/1:8,3:11:56:56,0,217	6	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	0.3333	734.64	202	chr9	122724732	.	T	C	734.64	.	AC=2;AF=0.333;AN=6;BaseQRankSum=6.21;DP=1379;ExcessHet=0.3476;FS=15.837;MLEAC=3;MLEAF=0.5;MQ=58.3;MQRankSum=-1.645;QD=5.07;ReadPosRankSum=-1.645;SOR=2.537	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,1:10:15:0|1:122724732_T_C:15,0,375:122724732	1	0	2	4
chr9	127925923	127925923	C	A	exonic	PIP5KL1	.	nonsynonymous SNV	PIP5KL1:NM_173492:exon3:c.G98T:p.S33I,PIP5KL1:NM_001135219:exon8:c.G707T:p.S236I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.0261313374316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.68238	D	0.006	0.72224	D	1.0	0.90584	D	0.987	0.77487	D	0.000224	0.47286	D	0.261745	0.999615	0.47849	D	1.735	0.44892	L	1.42	0.33189	T	-4.64	0.79316	D	0.261	0.33796	-1.0194	0.23910	T	0.131	0.44088	T	10	0.48922727	0.60892	T	0.026131	0.49060	D	0.247	0.55478	0.767	0.89452	0.531972677126	0.52846	0.5990099232146398	0.59831	1.01988730095	0.75077	0.434287160635	0.29796	T	0.068983	0.33596	T	-0.0932301	0.37542	T	-0.371695	0.36690	T	0.992513597011566	0.83012	D	0.868313	0.57032	D	0.4184813	0.61991	0.26889735	0.52764	0.4184813	0.61991	0.26889735	0.52763	-15.847	0.97523	D	.	.	0.201	0.42535	B	.;.	.;.	4.226788	0.63974	24.6	0.99467252440192788	0.66154	0.86694	0.46029	D	AEFBI	0.324434	0.42633	N	0.329997075348622	0.57693	3.937775	0.284089157332231	0.54611	3.625492	0.999972618291912	0.50053	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.616125	0.45549	0	.	.	5.31	3.36	0.37579	2.535000	0.45343	2.132000	0.30787	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:0.821:0.0:0.179	10.173	0.42098	287	0.88635	Phosphatidylinositol-4-phosphate 5-kinase, core|Phosphatidylinositol-4-phosphate 5-kinase, core|Phosphatidylinositol-4-phosphate 5-kinase, core;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr9	127925923	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr9	127929868	127929868	-	G	exonic	PIP5KL1	.	stopgain	PIP5KL1:NM_001135219:exon2:c.47dupC:p.E17*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	36.4	32	chr9	127929868	.	A	AG	36.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.07;ReadPosRankSum=-1.501;SOR=0.693	GT:AD:DP:GQ:PL	0/1:4,2:6:47:47,0,113	6	0	1	0
chr9	128343175	128343175	A	T	exonic	SLC27A4	.	stopgain	SLC27A4:NM_005094:exon2:c.A43T:p.K15X	Ichthyosis prematurity syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	0.13003	T	0.224	0.25591	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	-1.66	0.82715	D	1.78	0.00525	N	0.301	0.34012	-0.5402	0.67155	T	0.362	0.72377	T	7	0.25803554	0.43226	T	.	.	.	0.183	0.45592	0.493	0.58048	0.716849003213	0.71436	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	0.846908092498779	0.49901	D	0.330567	0.06924	T	.	.	.	.	.	.	.	.	-2.773	0.07937	T	.	.	0.119	0.24532	B	.	.	7.253193	0.96319	36	0.99186169098299726	0.54848	0.83563	0.42672	D	AEFDBHCI	0.677507	0.64218	D	0.00484117778718424	0.42074	2.52837	-0.062306616895576	0.36964	2.158	0.999941011172985	0.47345	0.706548	0.73137	0	0.708844	0.79440	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	5.52	-0.00523	0.13341	0.634000	0.24304	1.754000	0.28498	-0.083000	0.16234	0.998000	0.41325	0.999000	0.35428	0.354000	0.25750	0.4457:0.4267:0.0:0.1276	8.073	0.29865	329	0.86514	.	.	.	.	.	.	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	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr9	128343175	.	A	T	33.22	.	AC=2;AF=0.143;AN=14;DP=205;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr9	136808232	136808232	C	A	exonic	RABL6	.	nonsynonymous SNV	RABL6:NM_001173988:exon1:c.C36A:p.D12E,RABL6:NM_001173989:exon1:c.C36A:p.D12E,RABL6:NM_024718:exon1:c.C36A:p.D12E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.148360344513	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.256e-06	4.788e-06	1.409e-06	7.142e-06	8.812e-05	1.53e-06	1.01e-06	2.335e-05	1.247e-05	0	0	0	8.812e-05	0	0	2.758e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465	0.21634	T	0.843	0.10209	T	0.0	0.02946	B	0.001	0.04355	B	0.008253	0.30938	N	0.256329	0.988566	0.24396	N	-0.145	0.04423	N	0.06	0.61798	T	0.12	0.06253	N	0.072	0.09490	-0.9943	0.31485	T	0.088	0.33885	T	10	0.066854	0.09229	T	0.14836	0.83029	D	0.076	0.22200	0.178	0.08503	0.215239754934	0.21150	0.23748830598180962	0.23663	0.823064698688	0.67274	0.804454922676	0.82643	D	0.012969	0.11300	T	-0.220812	0.17882	T	-0.554957	0.16853	T	0.515287816524506	0.33192	D	0.680832	0.28956	T	0.050317492	0.09072	0.03448465	0.02525	0.050317492	0.09071	0.03448465	0.02524	-1.659	0.02124	T	.	.	0.058	0.03964	B	.;.;.;.	.;.;.;.	1.700567	0.21659	15.30	0.94973180616778696	0.25904	0.32417	0.24580	N	AEFDGBHCI	0.158826	0.28453	N	-0.817636634612202	0.12860	0.6296188	-0.622846175994905	0.18907	1.012101	0.999999999796498	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	3.91	1.93	0.24985	1.589000	0.36253	5.753000	0.49639	-0.323000	0.05837	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.6021:0.3979:0.0	11.959	0.52285	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	.	.	.	.	.	.	.	.	0.1429	33.22	27	chr9	136808232	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=202;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr10	1379109	1379109	G	C	exonic	ADARB2	.	nonsynonymous SNV	ADARB2:NM_018702:exon2:c.C152G:p.P51R	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	.	.	0.00259585	0.0007	9.643e-05	8.652e-05	0	0	0.0002	0	0.0044	0.0006856	106	154602	rs527533816	0.0005	0.0005	0.0004	0.0007	0.0051	0.0005	0.0005	0.0047	0.0046	2.987e-05	2.236e-05	0	2.519e-05	0	0.0012	0.0003	0.0004	0.0051	0.0003	0.0003	0.0002	0.0004	0.0044	0.0002	0.0002	0.0029	0.0024	9.626e-05	0	6.537e-05	0	0.0002	0	0.0034	0.0003	0	0.0044	0.004	0.65419	D	0.043	0.49942	D	0.999	0.77913	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	0.999894	0.50595	D	2.16	0.60381	M	1.87	0.24085	T	-2.33	0.51646	N	0.782	0.77883	-0.9518	0.40660	T	0.130	0.43989	T	10	0.009028435	0.00204	T	.	.	.	0.256	0.56694	.	.	0.123314135267	0.11883	0.4179790439558475	0.41713	2.03392677507	0.94150	0.509170889854	0.40105	T	0.041468	0.25867	T	-0.353321	0.04521	T	-0.279344	0.46872	T	0.0656566588726031	0.08027	T	0.773423	0.40508	T	0.2906039	0.52049	0.22028214	0.46798	0.2906039	0.52049	0.22028214	0.46797	-5.078	0.37674	T	.	.	0.132	0.28377	B	.	.	4.155455	0.62368	24.4	0.99838536998082916	0.91972	0.98260	0.81026	D	AEFBI	0.765172	0.70174	D	0.550584124144315	0.70118	5.454753	0.508444275652573	0.68558	5.236535	0.999993448190933	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.8	4.8	0.61157	7.696000	0.83499	11.511000	0.93003	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:1.0:0.0	16.983	0.86204	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	0.001512	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.07143	193.44	34	chr10	1379109	.	G	C	193.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.366;DP=219;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=27.63;ReadPosRankSum=-1.068;SOR=1.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,5:7:69:0|1:1379108_A_C:204,0,69:1379108	6	0	1	0
chr10	19817146	19817146	G	C	exonic	PLXDC2	.	nonsynonymous SNV	PLXDC2:NM_001282736:exon1:c.G67C:p.D23H,PLXDC2:NM_032812:exon1:c.G67C:p.D23H	.	417	1102	3	0	0	3	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0405190844968	0.0002	0.000798722	0.0009	0	0.0074	0	0	0.0009	0.0035	0.0002	0.0003946	61	154602	rs150292075	0.0003	0.0003	0.0003	0.0003	0.0087	0.0002	0.0002	0.0068	0.0061	0.0003	0.0015	7.826e-05	0	0	0.0087	0.0002	0.0007	7.299e-05	0.0004	0.0004	0.0005	0.0004	0.0021	0.0003	0.0003	0.0015	0.0013	0.0001	0	0.0021	0	0	0	0.0136	0.0003	0.0019	0	0.002	0.72154	D	0.018	0.67890	D	0.801	0.47190	P	0.742	0.55764	P	0.001524	0.38731	N	0.166693	1	0.81001	D	1.39	0.34934	L	1.71	0.26737	T	-1.55	0.37566	N	0.345	0.41853	-1.0918	0.05238	T	0.047	0.20275	T	10	0.007012278	0.00160	T	0.040519	0.59420	D	0.205	0.49236	.	.	0.187035705434	0.18338	0.446007505819708	0.44518	0.376332469476	0.39071	0.530219912529	0.43065	T	0.028073	0.20418	T	-0.301996	0.08472	T	-0.241951	0.50608	T	0.115586259299294	0.13993	T	0.776522	0.40874	T	0.16553186	0.36831	0.14619349	0.34644	0.16553186	0.36831	0.14619349	0.34643	-3.439	0.17367	T	.	.	0.136	0.29588	B	.;.	.;.	3.758475	0.53913	23.4	0.99175170587543982	0.54498	0.59426	0.30912	D	AEFDBCIJ	0.313630	0.41873	N	0.125047763545003	0.47633	2.986314	0.111668968394132	0.45143	2.782886	0.999999961026211	0.74766	0.582742	0.33608	0	0.541168	0.11318	0	0.52208	0.10781	0	0.603991	0.37454	0	.	.	4.57	4.57	0.55860	4.525000	0.60274	4.166000	0.42242	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.041000	0.14368	0.0:0.0:1.0:0.0	12.741	0.56624	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008147	0.021739	0.009537	0.011696	0.000000	0.008621	0.000000	0.000000	0.07143	101.44	35	chr10	19817146	.	G	C	101.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.207;DP=243;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.45;ReadPosRankSum=0.154;SOR=0.307	GT:AD:DP:GQ:PL	0/1:6,6:12:99:112,0,149	6	0	1	0
chr10	53806959	53806959	G	A	exonic	PCDH15	.	nonsynonymous SNV	PCDH15:NM_001354420:exon34:c.C4648T:p.R1550C,PCDH15:NM_001354429:exon37:c.C4777T:p.R1593C,PCDH15:NM_001384140:exon38:c.C4843T:p.R1615C	Deafness, autosomal recessive 23, Autosomal recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive;Usher syndrome, type 1F, Autosomal recessive	1	1518	3	0	0	3	0.000987167	.	.	.	4007805	Autosomal_recessive_nonsyndromic_hearing_loss_23|Usher_syndrome_type_1D|Usher_syndrome_type_1F	MONDO:MONDO:0012293,MedGen:C1836027,OMIM:609533,Orphanet:90636|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MONDO:MONDO:0011186,MedGen:C1865885,OMIM:602083,Orphanet:231169,Orphanet:886	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.253	0.00606562582175	.	0.000199681	1.665e-05	0	0	0	0	1.509e-05	0	6.057e-05	1.29e-05	2	154602	rs570828018	1.163e-05	1.163e-05	1.361e-05	9.627e-06	2.319e-05	7.09e-06	5.79e-06	6.52e-06	5.03e-06	0	2.236e-05	0	0	0	0	1.169e-05	1.656e-05	2.319e-05	1.314e-05	1.312e-05	2.572e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	6.552e-05	0	0	0	0	0	0	0.0002	.	.	.	0.005	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.81711	0.34722	D	.	.	.	.	.	.	.	.	.	0.55	0.84922	-0.1559	0.78771	T	0.435	0.77523	T	9	0.32615846	0.49917	T	0.006066	0.15846	T	0.253	0.56294	0.422	0.46529	0.478905595755	0.47518	.	.	.	.	.	.	.	0.051741	0.29924	T	-0.116632	0.33675	T	-0.223782	0.52371	T	0.81679493188858	0.47536	D	0.944006	0.78847	D	.	.	.	.	.	.	.	.	-6.336	0.49007	T	.	.	0.373	0.61700	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.346220	0.66720	25.0	0.99841717576915789	0.92229	0.92721	0.56383	D	AEFGI	0.744662	0.68758	D	0.735731330709004	0.81976	7.649409	0.736585793741386	0.85151	8.49608	7.66553864448293E-4	0.07776	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	3.734000	0.54760	8.669000	0.78002	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.8542:0.1458	14.621	0.68184	968	0.07033	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	144.44	34	chr10	53806959	.	G	A	144.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.15;DP=219;ExcessHet=0;FS=3.332;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.05;ReadPosRankSum=-2.369;SOR=1.901	GT:AD:DP:GQ:PL	0/1:3,5:8:60:155,0,60	6	0	1	0
chr10	63207489	63207489	T	A	exonic	JMJD1C	.	nonsynonymous SNV	JMJD1C:NM_001322254:exon8:c.A3523T:p.T1175S,JMJD1C:NM_001282948:exon9:c.A3634T:p.T1212S,JMJD1C:NM_001318153:exon9:c.A3316T:p.T1106S,JMJD1C:NM_001322252:exon9:c.A4066T:p.T1356S,JMJD1C:NM_001322258:exon9:c.A3523T:p.T1175S,JMJD1C:NM_001318154:exon10:c.A3634T:p.T1212S,JMJD1C:NM_032776:exon10:c.A4180T:p.T1394S	.	424	1093	5	0	0	5	0.00228206	.	.	.	459977	not_provided|Early_myoclonic_encephalopathy	MedGen:C3661900|MedGen:C0270855	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.050	0.0100403153825	0.0007	0.000599042	0.0007	0.0002	0.0018	0	0	0.0008	0.0022	0.0002	0.0007115	110	154602	rs139881253	0.0007	0.0007	0.0007	0.0007	0.0198	0.0007	0.0007	0.0168	0.0157	0.0007	0.0020	0.0033	0	0	0.0198	0.0005	0.0019	0.0002	0.0009	0.0009	0.0010	0.0008	0.0037	0.0008	0.0007	0.0029	0.0026	0.0003	0	0.0037	0.0020	0	0	0.0340	0.0007	0.0028	0	0.0	0.91255	D	0.59	0.08217	T	0.966	0.56202	D	0.472	0.46817	P	0.006629	0.31903	N	0.351758	0.970212	0.38782	D	2.215	0.62545	M	0.81	0.48460	T	-0.73	0.21644	N	0.048	0.02658	-0.8899	0.48943	T	0.121	0.42122	T	10	0.009985298	0.00224	T	0.01004	0.26102	T	0.050	0.13987	0.215	0.13498	0.49019323153	0.48651	0.19557076434722143	0.19474	0.0624283650385	0.06944	0.348504960537	0.17702	T	0.010594	0.09554	T	-0.531189	0.00378	T	-0.542269	0.18073	T	0.0291640058648876	0.01862	T	0.659134	0.26825	T	0.19281463	0.40965	0.16971916	0.39027	0.19281463	0.40965	0.16971916	0.39026	-2.587	0.06405	T	0.2914492993869523	0.38805	0.099	0.17232	B	.;.;.	.;.;.	1.893026	0.24040	16.25	0.98336882145449223	0.40398	0.88915	0.49079	D	ALL	0.376356	0.46053	N	0.185914547892587	0.50521	3.241462	0.188065787848264	0.49193	3.125444	0.999999999999566	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.698795	0.65105	0	0.648885	0.59868	0	.	.	5.72	3.28	0.36691	1.624000	0.36629	1.399000	0.26181	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1263:0.0:0.1326:0.7411	8.877	0.34510	609	0.67094	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.017623	0.030303	0.021739	0.026316	0.000000	0.008621	0.006098	0.011364	0.07143	58.44	106	chr10	63207489	.	T	A	58.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=302;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.84;ReadPosRankSum=1.47;SOR=0.693	GT:AD:DP:GQ:PL	0/1:6,4:10:69:69,0,118	6	0	1	0
chr10	63219927	63219927	T	A	exonic	JMJD1C	.	nonsynonymous SNV	JMJD1C:NM_001322252:exon3:c.A390T:p.E130D,JMJD1C:NM_032776:exon4:c.A504T:p.E168D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.04564168115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.025	0.56192	D	0.999	0.77913	D	0.991	0.79672	D	0.000002	0.62929	U	0.000000	0.999325	0.81001	D	1.905	0.50856	L	0.68	0.51952	T	-0.94	0.25118	N	0.679	0.68603	-0.7923	0.55595	T	0.192	0.54463	T	10	0.54771954	0.64079	D	0.045642	0.62080	D	0.173	0.43840	0.269	0.21735	0.577752204467	0.57444	0.623115086215076	0.62244	0.383909428268	0.39709	0.681375861168	0.64466	T	0.038889	0.24998	T	-0.0337521	0.46869	T	-0.286259	0.46161	T	0.819075348767483	0.47703	D	0.889011	0.61998	D	0.23750499	0.46616	0.16777481	0.38687	0.23750499	0.46616	0.16777481	0.38686	-4.151	0.26039	T	.	.	0.305	0.53417	B	.	.	3.766416	0.54074	23.4	0.99490583466642779	0.67403	0.91749	0.54182	D	ALL	0.378133	0.46164	N	0.419022329276331	0.62469	4.463256	0.396509740177306	0.61349	4.333809	0.99990554316354	0.45458	0.740787	0.97801	0	0.696367	0.67918	0	0.732669	0.93749	0	0.592323	0.36904	0	.	.	5.25	2.96	0.33383	1.666000	0.37076	3.385000	0.38029	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.2595:0.0:0.7405	8.419	0.31853	616	0.66398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr10	63219927	.	T	A	33.22	.	AC=2;AF=0.143;AN=14;DP=196;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr10	71287711	71287711	G	A	exonic	UNC5B	.	nonsynonymous SNV	UNC5B:NM_001244889:exon6:c.G847A:p.A283T,UNC5B:NM_170744:exon6:c.G847A:p.A283T	.	425	1095	1	1	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0102553298708	.	0.00119808	0.0005	0	0	0	0	0	0	0.0039	0.0004592	71	154602	rs552032981	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0029	0.0027	0	0	0	0	0	0.0002	8.998e-07	9.942e-05	0.0032	9.849e-05	9.843e-05	7.71e-05	0.0001	0.0031	6.002e-05	4.876e-05	0.0019	0.0015	0	0	0	0	0	0	0	0	0	0.0031	0.073	0.35537	T	0.155	0.31936	T	0.017	0.17573	B	0.054	0.25828	B	0.000020	0.62929	D	0.116765	0.999989	0.54805	D	1.73	0.44655	L	0.63	0.53088	T	-2.05	0.47008	N	0.353	0.39558	-0.9171	0.45945	T	0.110	0.39651	T	10	0.011901945	0.00258	T	0.010255	0.26566	T	0.102	0.29158	0.461	0.52916	0.649715346086	0.64680	0.2503026391388829	0.24944	0.170572890035	0.19226	0.542036056519	0.44733	T	0.136138	0.46834	T	-0.492789	0.00627	T	-0.482107	0.24223	T	0.0755230480959923	0.09405	T	0.853715	0.53946	D	0.065612204	0.14038	0.092662156	0.21848	0.065612204	0.14038	0.092662156	0.21847	-6.717	0.51938	T	.	.	0.068	0.04002	B	.;.	.;.	3.638542	0.51583	23.1	0.9982206240492455	0.90502	0.90738	0.52168	D	AEFDBI	0.327195	0.42824	N	0.0119543412653185	0.42398	2.553848	0.143815622490177	0.46815	2.921418	0.999981528717527	0.51787	0.706548	0.73137	0	0.610034	0.51514	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	4.88	3.96	0.45097	3.959000	0.56451	5.909000	0.50995	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.1812:0.0:0.5653:0.2535	4.167	0.09775	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	134.44	35	chr10	71287711	.	G	A	134.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=222;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-1.846;SOR=0.941	GT:AD:DP:GQ:PL	0/1:5,6:11:99:145,0,109	6	0	1	0
chr10	80170869	80170869	C	T	exonic	ANXA11	.	startloss	ANXA11:NM_001157:exon3:c.G102A:p.M34I,ANXA11:NM_145868:exon4:c.G102A:p.M34I,ANXA11:NM_001278407:exon5:c.G102A:p.M34I,ANXA11:NM_001278408:exon5:c.G102A:p.M34I,ANXA11:NM_001278409:exon5:c.G3A:p.M1?,ANXA11:NM_145869:exon5:c.G102A:p.M34I	.	411	1108	3	0	0	3	0.00135196	.	.	.	1350245	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.231	0.0172140530574	.	.	2.707e-05	0	0	0	0	4.715e-05	0	0	1.94e-05	3	154602	rs775371260	7.86e-05	8.345e-05	7.508e-05	8.219e-05	9.963e-05	6.666e-05	6.203e-05	8.425e-05	7.83e-05	0	0	0	0	0	0	9.963e-05	3.464e-05	0	3.285e-05	3.283e-05	5.138e-05	1.345e-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	0.391	0.91255	T	0.295	0.23914	T	0.0	0.02946	B	0.001	0.04355	B	0.289431	0.03884	N	1.466210	1	0.81001	D	1.245	0.31408	L	4.66	0.02084	T	-0.42	0.43334	N	0.427	0.58968	-0.8827	0.49545	T	0.007	0.02518	T	10	0.11075854	0.35254	T	0.017214	0.38815	T	0.231	0.53208	0.183	0.09131	0.130388298395	0.12655	0.12017455722612587	0.11944	0.0634574563292	0.07066	0.55156058073	0.46077	T	0.013224	0.11479	T	-0.0763967	0.40299	T	-0.347515	0.39490	T	0.125109296255287	0.14923	T	0.9	0.65058	D	0.12025809	0.28301	0.084023	0.19299	0.12025809	0.28301	0.084023	0.19298	-4.03	0.56657	T	.	.	0.188	0.56111	B	.;.;.;.;.	.;.;.;.;.	2.085458	0.26530	17.15	0.99237256897645565	0.56437	0.63331	0.32056	D	AEFDBCI	0.352737	0.44540	N	-0.323256166146974	0.28268	1.557702	-0.160154875303877	0.33019	1.884466	0.999999974893574	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.26897	0.05253	2	0.714379	0.83352	0	.	.	4.7	4.7	0.58776	2.201000	0.42368	3.899000	0.40339	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.330000	0.25202	0.0:1.0:0.0:0.0	13.517	0.61004	932	0.16191	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1429	79.4	37	chr10	80170869	.	C	T	79.4	.	AC=2;AF=0.143;AN=14;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=19.85;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,4:4:12:99,12,0	6	1	0	0
chr10	84232136	84232136	G	A	exonic	LRIT1	.	nonsynonymous SNV	LRIT1:NM_015613:exon4:c.C1663T:p.R555C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.141902228558	.	.	2.477e-05	0	8.658e-05	0	0	1.502e-05	0	6.066e-05	1.94e-05	3	154602	rs75121307	1.71e-05	1.71e-05	1.089e-05	2.338e-05	8.115e-05	1.174e-05	9.92e-06	3.765e-05	2.662e-05	0	4.472e-05	0	0	0	0	1.259e-05	3.311e-05	8.115e-05	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.003	0.68238	D	0.0	0.92824	D	0.998	0.73220	D	0.836	0.59919	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.935	0.51832	L	1.16	0.38073	T	-1.38	0.34198	N	0.717	0.71942	-0.7212	0.59404	T	0.202	0.55822	T	10	0.77996993	0.77771	D	0.141902	0.82430	D	0.221	0.51721	0.419	0.46036	0.592368907089	0.58914	0.4003488836497141	0.39949	0.490798061332	0.47791	0.394835025072	0.24348	T	0.060706	0.31460	T	-0.0722669	0.40963	T	-0.160055	0.58347	T	0.851059556007385	0.50257	D	0.731927	0.34732	T	0.2862604	0.51643	0.18898122	0.42219	0.2862604	0.51642	0.18898122	0.42218	-4.618	0.32397	T	.	.	0.147	0.32493	B	.	.	4.769967	0.77205	26.7	0.99939839623557603	0.99767	0.98794	0.86939	D	AEFGBI	0.885924	0.81686	D	0.648620524730479	0.76280	6.457333	0.609792269222227	0.75652	6.348223	0.990152126043238	0.32057	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.49	5.49	0.81022	7.601000	0.82027	8.620000	0.77807	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.731000	0.35132	0.0:0.0:1.0:0.0	18.159	0.89636	925	0.17918	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	529.22	38	chr10	84232136	.	G	A	529.22	.	AC=2;AF=0.143;AN=14;DP=222;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=27.85;SOR=0.793	GT:AD:DP:GQ:PL	1/1:0,19:19:57:550,57,0	6	1	0	0
chr10	84477585	84477585	A	T	exonic	CCSER2	.	nonsynonymous SNV	CCSER2:NM_001284242:exon6:c.A527T:p.H176L,CCSER2:NM_001284243:exon6:c.A527T:p.H176L,CCSER2:NM_001284240:exon9:c.A2246T:p.H749L,CCSER2:NM_001351290:exon9:c.A2246T:p.H749L,CCSER2:NM_001351292:exon9:c.A2246T:p.H749L,CCSER2:NM_018999:exon9:c.A2246T:p.H749L	.	.	.	.	.	.	.	.	.	.	.	3424804	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.047	0.00558997878865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.864e-07	6.841e-07	0	1.379e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.661e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.827	0.02906	T	0.644	0.31833	T	0.0	0.02946	B	0.0	0.01387	B	0.008023	0.31057	N	0.346132	0.995322	0.24655	N	0	0.06538	N	2.3	0.22067	T	-0.08	0.21860	N	0.228	0.25622	-1.0356	0.18668	T	0.027	0.11751	T	10	0.10937789	0.20402	T	0.00559	0.14439	T	0.047	0.12962	0.398	0.42590	0.314417295294	0.31040	0.10066359034609722	0.09997	0.098487829451	0.11135	0.427966058254	0.28930	T	0.006429	0.05862	T	-0.190976	0.22114	T	-0.5121	0.21099	T	0.599383890628815	0.36376	D	0.756924	0.39401	T	0.0670157	0.14475	0.05381785	0.09140	0.0670157	0.14474	0.05381785	0.09139	-4.677	0.35814	T	.	.	0.141	0.38711	B	.;.;.;.;.	.;.;.;.;.	3.578926	0.50445	22.9	0.9280847588704777	0.22333	0.71732	0.35140	D	AEFGBI	0.530898	0.55140	D	-0.248564052662743	0.31160	1.744532	-0.0208455100113593	0.38776	2.28931	0.876378354065913	0.25524	0.706298	0.61202	0	0.633656	0.55848	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.75	4.82	0.61641	3.324000	0.51734	8.405000	0.77114	0.677000	0.82338	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0982:0.0:0.9018:0.0	10.815	0.45772	946	0.12043	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr10	84477585	.	A	T	33.22	.	AC=2;AF=0.143;AN=14;DP=195;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr10	102592582	102592582	A	G	exonic	SUFU	.	nonsynonymous SNV	SUFU:NM_001178133:exon4:c.A455G:p.E152G,SUFU:NM_016169:exon4:c.A455G:p.E152G	Basal cell nevus syndrome, Autosomal dominant;Medulloblastoma, desmoplastic, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	0.0021	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.435	0.103702476502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	0.03984	T	0.825	0.03772	T	0.012	0.18677	B	0.018	0.18489	B	0.000000	0.84330	D	0.000000	1	0.81001	D	-1.4	0.00597	N	-1.44	0.80815	T	1.8	0.01166	N	0.709	0.74098	-0.7994	0.55179	T	0.180	0.52675	T	9	0.50964403	0.62022	D	0.103702	0.77787	D	0.435	0.74022	0.584	0.71118	0.537446701567	0.53396	0.742377973417662	0.74183	0.749724061738	0.63707	0.894293487072	0.95784	D	0.201751	0.55972	T	0.180464	0.72086	D	0.021447	0.71724	D	0.827208995819092	0.48314	D	0.927907	0.75551	D	0.4548381	0.64348	0.34310728	0.60027	0.4548381	0.64348	0.34310728	0.60027	-1.908	0.04249	T	.	.	0.195	0.47901	B	.;.;.	.;.;.	4.209597	0.63584	24.6	0.96946912134434848	0.31719	0.99028	0.90173	D	AEFBI	0.921236	0.89440	D	-0.133290963392124	0.35947	2.071428	0.14350827615708	0.46800	2.920056	0.99999999975338	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.35	5.35	0.76297	8.947000	0.92735	11.162000	0.87682	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.347	0.74056	712	0.56465	Suppressor of fused-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	.	.	.	.	.	.	.	.	0.1429	33.22	35	chr10	102592582	.	A	G	33.22	.	AC=2;AF=0.143;AN=14;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr10	119798609	119798609	A	T	exonic	INPP5F	.	nonsynonymous SNV	INPP5F:NM_014937:exon9:c.A1115T:p.Q372L	.	.	.	.	.	.	.	.	0.9999	0.994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.0283437027022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.774	0.03344	T	0.5	0.11190	T	0.005	0.12996	B	0.011	0.15521	B	0.000026	0.55875	D	0.123056	1	0.81001	D	0.97	0.24054	L	0.48	0.55945	T	1.22	0.01051	N	0.674	0.68169	-1.0197	0.23812	T	0.117	0.41142	T	10	0.35837582	0.52531	T	0.028344	0.51038	D	0.200	0.48430	0.694	0.83126	0.344710718752	0.34073	0.7020272450001712	0.70143	0.142115377136	0.16023	0.598823130131	0.52738	T	0.141204	0.47614	T	0.0473413	0.57999	T	-0.169774	0.57463	T	0.861592173576355	0.51196	D	0.856914	0.56210	D	0.1173209	0.27659	0.11815174	0.28522	0.1173209	0.27659	0.11815174	0.28522	-9.356	0.69959	D	.	.	0.100	0.28116	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.956937	0.58003	23.9	0.99509272026930684	0.68499	0.96014	0.67144	D	AEFI	0.678408	0.64278	D	-0.0203694098804973	0.40935	2.43961	0.202575105691978	0.49989	3.195826	0.953671730763058	0.28087	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.87	5.87	0.94266	5.635000	0.67514	11.146000	0.87211	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.147	0.72342	455	0.79073	SAC domain|SAC domain;.;SAC domain|SAC domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	32	chr10	119798609	.	A	T	33.22	.	AC=2;AF=0.143;AN=14;DP=192;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr10	122216727	122216727	C	T	exonic	TACC2	.	nonsynonymous SNV	TACC2:NM_006997:exon5:c.C1679T:p.T560M,TACC2:NM_206860:exon5:c.C1679T:p.T560M,TACC2:NM_001291878:exon6:c.C1715T:p.T572M,TACC2:NM_001291879:exon7:c.C557T:p.T186M,TACC2:NM_206861:exon8:c.C1883T:p.T628M,TACC2:NM_001291876:exon10:c.C7310T:p.T2437M,TACC2:NM_001291877:exon10:c.C7457T:p.T2486M,TACC2:NM_206862:exon11:c.C7445T:p.T2482M	.	429	1071	21	1	0	23	0.0106236	.	.	.	2809684	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.190	.	0.0055	0.00259585	0.0066	0.0012	0.0037	0	0.0203	0.0084	0.0110	0.0027	0.0062742	970	154602	rs34944231	0.0063	0.0063	0.0064	0.0063	0.0172	0.0062	0.0062	0.0144	0.0134	0.0013	0.0049	0.0115	2.519e-05	0.0190	0.0172	0.0062	0.0071	0.0032	0.0056	0.0056	0.0052	0.0060	0.0085	0.0053	0.0051	0.0073	0.0069	0.0014	0	0.0085	0.0112	0	0.0168	0.0068	0.0060	0.0095	0.0021	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.99	0.78936	D	0.002731	0.36034	N	0.000000	0.707636	0.39464	D	2.045	0.56016	M	3.82	0.20959	T	-3.12	0.82700	D	0.385	0.52119	-1.0425	0.16562	T	0.087	0.33606	T	10	0.008578092	0.00194	T	.	.	.	0.190	0.46781	.	.	0.74928862865	0.74702	0.3135585914688497	0.31268	0.506261591587	0.48838	0.395141631365	0.24391	T	0.254498	0.62516	T	-0.395171	0.02490	T	-0.335847	0.40814	T	0.0202739606712517	0.00727	T	0.980602	0.93511	D	0.17032468	0.37601	0.20229791	0.44251	0.17032468	0.37601	0.20229791	0.44250	-3.892	0.24639	T	.	.	0.108	0.23918	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.806375	0.78151	26.8	0.99906649515995816	0.97726	0.96615	0.70031	D	AEFDBI	0.557772	0.56726	D	0.670355751745337	0.77691	6.723674	0.694043590370746	0.81925	7.642314	0.999999723206218	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	5.395000	0.66037	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:1.0:0.0:0.0	19.719	0.96128	957	0.09725	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009063	0.010101	0.009511	0.017544	0.000000	0.017241	0.009146	0.011364	0.1429	217.21	36	chr10	122216727	.	C	T	217.21	.	AC=2;AF=0.143;AN=14;DP=220;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=24.13;SOR=0.892	GT:AD:DP:GQ:PL	1/1:0,9:9:27:238,27,0	6	1	0	0
chr10	122227937	122227937	G	A	exonic	TACC2	.	nonsynonymous SNV	TACC2:NM_006997:exon8:c.G2059A:p.V687M,TACC2:NM_206860:exon8:c.G2059A:p.V687M,TACC2:NM_001291878:exon9:c.G2095A:p.V699M,TACC2:NM_001291879:exon10:c.G937A:p.V313M,TACC2:NM_206861:exon11:c.G2263A:p.V755M,TACC2:NM_001291876:exon13:c.G7690A:p.V2564M,TACC2:NM_001291877:exon13:c.G7837A:p.V2613M,TACC2:NM_206862:exon14:c.G7825A:p.V2609M	.	429	1090	3	0	0	3	0.00137426	.	.	.	2672914	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.048	0.0118040479916	.	.	4.121e-05	0	0	0	0	7.499e-05	0	0	3.23e-05	5	154602	rs200541273	4.994e-05	4.994e-05	4.084e-05	5.913e-05	2.987e-05	4.059e-05	3.734e-05	9.31e-06	7.61e-06	2.987e-05	0	0.0017	0	0	0	1.529e-05	0.0002	1.159e-05	2.627e-05	2.626e-05	2.568e-05	2.689e-05	.	8.14e-06	5.14e-06	.	.	0	0	0	0.0012	0	0	0	0	0	0	0.002	0.72154	D	0.049	0.58089	D	0.429	0.43409	B	0.27	0.41633	B	0.337495	0.14016	N	0.533387	0.990594	0.27459	N	1.39	0.34934	L	3.95	0.18570	T	-1.13	0.30762	N	0.302	0.34336	-1.0707	0.09260	T	0.032	0.13592	T	10	0.009913832	0.00222	T	0.011804	0.29782	T	0.048	0.13305	0.132	0.03662	0.319686207203	0.31575	0.13741907348314877	0.13665	0.240167342679	0.26565	0.333066642284	0.15397	T	0.035837	0.23874	T	-0.284258	0.10222	T	-0.538436	0.18450	T	0.0725953248392799	0.09010	T	0.972203	0.89922	D	0.061629355	0.12783	0.08979402	0.21019	0.061629355	0.12782	0.08979402	0.21018	-5.123	0.39165	T	.	.	0.096	0.17953	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.086137	0.26537	17.15	0.98423824042551211	0.41320	0.21517	0.21429	N	AEFGBI	0.109281	0.21710	N	-0.607417867436289	0.18720	0.9741876	-0.555180450611674	0.20668	1.114601	0.657845636368872	0.22238	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.25	3.37	0.37692	-0.340000	0.07868	.	.	-0.120000	0.14102	0.192000	0.24212	0.998000	0.33993	0.964000	0.52637	0.0:0.2515:0.4596:0.2889	8.779	0.33938	951	0.11083	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1429	157.25	33	chr10	122227937	.	G	A	157.25	.	AC=2;AF=0.143;AN=14;DP=209;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=26.21;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,6:6:18:178,18,0	6	1	0	0
chr10	124994530	124994530	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C923T:p.S308F,CTBP2:NM_022802:exon5:c.C2339T:p.S780F,CTBP2:NM_001321013:exon6:c.C719T:p.S240F,CTBP2:NM_001083914:exon7:c.C719T:p.S240F,CTBP2:NM_001290214:exon7:c.C719T:p.S240F,CTBP2:NM_001290215:exon7:c.C719T:p.S240F,CTBP2:NM_001321012:exon7:c.C719T:p.S240F,CTBP2:NM_001321014:exon7:c.C719T:p.S240F,CTBP2:NM_001329:exon7:c.C719T:p.S240F	.	421	688	403	10	0	423	0.235131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.938	0.47632593724	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374871777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.59928	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-1.61	0.82254	D	-5.08	0.82896	D	0.976	0.98657	0.694	0.93099	D	0.759	0.91795	D	10	0.9291788	0.92260	D	0.476326	0.94766	D	0.938	0.98636	0.718	0.85319	0.963037453765	0.96263	0.9856555258906051	0.98558	2.08621322631	0.94675	0.860175311565	0.91136	D	0.733508	0.92560	D	0.422049	0.91127	D	0.368468	0.91016	D	0.994980752468109	0.86633	D	0.836416	0.50788	T	0.98504084	0.99469	0.92532665	0.96770	0.98504084	0.99469	0.92532665	0.96771	-14.995	0.96879	D	.	.	0.993	0.95154	P	.;.;.;.;.;.	.;.;.;.;.;.	5.187974	0.87005	29.1	0.99852028210273314	0.93102	0.95134	0.63563	D	AEFDGBCI	0.931287	0.91988	D	0.925236055449727	0.92941	11.72177	0.873600535312142	0.94317	12.66702	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	9.602000	0.97623	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	5877.14	117	chr10	124994530	.	G	A	5877.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.226;DP=1014;ExcessHet=14.2834;FS=51.694;MLEAC=7;MLEAF=0.5;MQ=56.88;MQRankSum=-5.524;QD=6.41;ReadPosRankSum=1.14;SOR=3.874	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,2:10:60:0|1:124994523_G_A:60,0,269:124994523	0	0	7	0
chr10	124994542	124994542	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G911A:p.S304N,CTBP2:NM_022802:exon5:c.G2327A:p.S776N,CTBP2:NM_001321013:exon6:c.G707A:p.S236N,CTBP2:NM_001083914:exon7:c.G707A:p.S236N,CTBP2:NM_001290214:exon7:c.G707A:p.S236N,CTBP2:NM_001290215:exon7:c.G707A:p.S236N,CTBP2:NM_001321012:exon7:c.G707A:p.S236N,CTBP2:NM_001321014:exon7:c.G707A:p.S236N,CTBP2:NM_001329:exon7:c.G707A:p.S236N	.	418	797	293	14	0	321	0.167624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	0.520636706354	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs78155918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.004	0.79402	D	0.994	0.66517	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.19	0.88972	M	-1.86	0.84341	D	-2.9	0.61580	D	0.951	0.95956	0.923	0.96008	D	0.835	0.94461	D	10	0.96767014	0.96284	D	0.520637	0.95441	D	0.881	0.96502	0.859	0.95718	0.8508886717	0.84945	0.9945051231415541	0.99447	1.72531923595	0.90642	0.895219087601	0.95893	D	0.849948	0.96576	D	0.195726	0.73494	D	0.04337	0.73148	D	0.993175552752073	0.83871	D	0.98969	0.96662	D	0.9860643	0.99535	0.9414922	0.97865	0.9860643	0.99535	0.9414922	0.97866	-14.163	0.96648	D	.	.	0.990	0.93538	P	.;.;.;.;.;.	.;.;.;.;.;.	4.768549	0.77163	26.6	0.99793032458852304	0.87839	0.92617	0.56134	D	AEFDGBCI	0.921115	0.89410	D	0.951529578297244	0.94047	12.46209	0.869409228877299	0.94098	12.50256	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.568000	0.81546	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3259.14	118	chr10	124994542	.	C	T	3259.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.257;DP=1044;ExcessHet=14.2834;FS=75.76;MLEAC=7;MLEAF=0.5;MQ=56.81;MQRankSum=-5.466;QD=3.6;ReadPosRankSum=2.25;SOR=4.636	GT:AD:DP:GQ:PL	0/1:6,3:9:75:75,0,156	0	0	7	0
chr10	124994563	124994563	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T890A:p.L297Q,CTBP2:NM_022802:exon5:c.T2306A:p.L769Q,CTBP2:NM_001321013:exon6:c.T686A:p.L229Q,CTBP2:NM_001083914:exon7:c.T686A:p.L229Q,CTBP2:NM_001290214:exon7:c.T686A:p.L229Q,CTBP2:NM_001290215:exon7:c.T686A:p.L229Q,CTBP2:NM_001321012:exon7:c.T686A:p.L229Q,CTBP2:NM_001321014:exon7:c.T686A:p.L229Q,CTBP2:NM_001329:exon7:c.T686A:p.L229Q	.	408	769	327	18	0	363	0.190952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.960	0.547155886187	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs150320719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.835	0.82492	M	-1.85	0.84267	D	-5.78	0.88699	D	0.932	0.93841	0.754	0.93845	D	0.782	0.92582	D	10	0.9727028	0.96922	D	0.547156	0.95809	D	0.960	0.99376	0.857	0.95604	0.951774941741	0.95126	0.9701566259621512	0.97004	2.04308220201	0.94282	0.848910570145	0.89450	D	0.853663	0.96692	D	0.45783	0.92829	D	0.419864	0.92740	D	0.999412894248962	0.97310	D	0.830117	0.49576	T	0.9576254	0.97040	0.9405844	0.97806	0.9576254	0.97041	0.9405844	0.97806	-13.719	0.92108	D	.	.	0.992	0.94272	P	.;.;.;.;.;.	.;.;.;.;.;.	5.061375	0.84364	28.3	0.99631799569558666	0.76081	0.94544	0.61510	D	AEFDGBCI	0.948042	0.95924	D	0.879361810884359	0.90712	10.53043	0.831570877214738	0.91895	11.12529	0.999999999999983	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	5.42	0.78666	8.947000	0.92735	11.208000	0.89295	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.466	0.75135	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3339.14	115	chr10	124994563	.	A	T	3339.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.931;DP=1058;ExcessHet=14.2834;FS=82.34;MLEAC=7;MLEAF=0.5;MQ=56.58;MQRankSum=-5.915;QD=3.6;ReadPosRankSum=2.9;SOR=4.841	GT:AD:DP:GQ:PL	0/1:5,3:8:67:67,0,154	0	0	7	0
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H,CTBP2:NM_022802:exon5:c.G2292T:p.Q764H,CTBP2:NM_001321013:exon6:c.G672T:p.Q224H,CTBP2:NM_001083914:exon7:c.G672T:p.Q224H,CTBP2:NM_001290214:exon7:c.G672T:p.Q224H,CTBP2:NM_001290215:exon7:c.G672T:p.Q224H,CTBP2:NM_001321012:exon7:c.G672T:p.Q224H,CTBP2:NM_001321014:exon7:c.G672T:p.Q224H,CTBP2:NM_001329:exon7:c.G672T:p.Q224H	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	0.0892909269972	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs80025996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.63226	D	0.087	0.69154	T	0.964	0.68779	D	0.898	0.69447	P	0.000000	0.84330	D	0.000000	0.999957	0.58761	D	0.49	0.13296	N	-1.71	0.83815	D	-3.39	0.66896	D	0.743	0.76111	0.130	0.84714	D	0.526	0.82375	D	10	0.69303375	0.71973	D	0.089291	0.75298	D	0.696	0.89007	0.404	0.43573	0.949204094444	0.94866	0.8408413105034186	0.84044	1.71814521226	0.90529	0.835075438023	0.87341	D	0.524087	0.83410	D	0.323687	0.84732	D	0.227177	0.84532	D	0.984627544879913	0.75871	D	0.969203	0.88895	D	0.8669297	0.88620	0.72212815	0.83591	0.8669297	0.88622	0.72212815	0.83592	-9.982	0.77738	D	.	.	0.579	0.68002	P	.;.;.;.;.;.	.;.;.;.;.;.	4.008335	0.59116	24.1	0.99735057696966967	0.83047	0.87870	0.47561	D	AEFDGBCI	0.735142	0.68105	D	0.394708730247093	0.61135	4.310599	0.421330055103997	0.62895	4.513037	0.999999999997443	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	4.51	0.54589	3.891000	0.55940	4.055000	0.41540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9224:0.0:0.0776	13.270	0.59589	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	8046.14	115	chr10	124994577	.	C	A	8046.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-3.628;DP=1069;ExcessHet=14.2834;FS=72.991;MLEAC=7;MLEAF=0.5;MQ=56.56;MQRankSum=-5.892;QD=8.45;ReadPosRankSum=2.39;SOR=4.387	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,3:8:99:0|1:124994577_C_A:111,0,201:124994577	0	0	7	0
chr10	124994610	124994641	CAAGTAGGGGTCATAAAATATGACGCTGAATC	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon5:c.812_843del:p.G271Afs*36,CTBP2:NM_022802:exon5:c.2228_2259del:p.G743Afs*36,CTBP2:NM_001321013:exon6:c.608_639del:p.G203Afs*36,CTBP2:NM_001083914:exon7:c.608_639del:p.G203Afs*36,CTBP2:NM_001290214:exon7:c.608_639del:p.G203Afs*36,CTBP2:NM_001290215:exon7:c.608_639del:p.G203Afs*36,CTBP2:NM_001321012:exon7:c.608_639del:p.G203Afs*36,CTBP2:NM_001321014:exon7:c.608_639del:p.G203Afs*36,CTBP2:NM_001329:exon7:c.608_639del:p.G203Afs*36	.	417	925	176	4	0	184	0.0904621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	117.19	99	chr10	124994609	.	GCAAGTAGGGGTCATAAAATATGACGCTGAATC	G	117.19	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.47;DP=780;ExcessHet=0.3476;FS=3.941;MLEAC=2;MLEAF=0.143;MQ=55.92;MQRankSum=-1.465;QD=0.79;ReadPosRankSum=-1.401;SOR=0.814	GT:AD:DP:GQ:PL	0/1:6,1:7:25:25,0,248	5	0	2	0
chr10	124998077	124998077	C	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.G656C:p.W219S,CTBP2:NM_022802:exon4:c.G2072C:p.W691S,CTBP2:NM_001321013:exon5:c.G452C:p.W151S,CTBP2:NM_001083914:exon6:c.G452C:p.W151S,CTBP2:NM_001290214:exon6:c.G452C:p.W151S,CTBP2:NM_001290215:exon6:c.G452C:p.W151S,CTBP2:NM_001321012:exon6:c.G452C:p.W151S,CTBP2:NM_001321014:exon6:c.G452C:p.W151S,CTBP2:NM_001329:exon6:c.G452C:p.W151S	.	411	908	195	8	0	211	0.104095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.729	0.132665301415	.	.	.	.	.	.	.	.	.	.	.	.	.	rs921417861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.49613	D	0.251	0.48855	T	0.932	0.67487	P	0.903	0.72692	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.73	0.18813	N	-1.24	0.78967	T	-13.16	0.99944	D	0.816	0.82660	0.015	0.82548	D	0.436	0.77612	T	10	0.8384273	0.82996	D	0.132665	0.81500	D	0.729	0.90501	0.42	0.46200	0.916186859433	0.91534	0.939893042578689	0.93970	2.15981024662	0.95367	0.902819037437	0.96746	D	0.566519	0.85577	D	0.361391	0.87361	D	0.281337	0.87198	D	0.999315857887268	0.96929	D	0.787421	0.42665	T	0.9529722	0.96568	0.9167839	0.96171	0.9529722	0.96569	0.9167839	0.96171	-13.048	0.91030	D	.	.	0.987	0.92737	P	.;.;.;.;.;.	.;.;.;.;.;.	5.895887	0.93981	33	0.99155191442297097	0.53931	0.92847	0.56691	D	AEFDGBCI	0.944592	0.95186	D	0.526305507094081	0.68652	5.246556	0.569067646848623	0.72734	5.856765	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.565000	0.81337	5.908000	0.50981	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	1686.69	135	chr10	124998077	.	C	G	1686.69	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-1.418;DP=938;ExcessHet=2.5225;FS=11.627;MLEAC=5;MLEAF=0.5;MQ=57.98;MQRankSum=-7.482;QD=3.68;ReadPosRankSum=1.65;SOR=1.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,1:10:15:0|1:124998077_C_G:15,0,375:124998077	1	0	4	2
chr10	124998080	124998080	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C653G:p.T218R,CTBP2:NM_022802:exon4:c.C2069G:p.T690R,CTBP2:NM_001321013:exon5:c.C449G:p.T150R,CTBP2:NM_001083914:exon6:c.C449G:p.T150R,CTBP2:NM_001290214:exon6:c.C449G:p.T150R,CTBP2:NM_001290215:exon6:c.C449G:p.T150R,CTBP2:NM_001321012:exon6:c.C449G:p.T150R,CTBP2:NM_001321014:exon6:c.C449G:p.T150R,CTBP2:NM_001329:exon6:c.C449G:p.T150R	.	411	907	195	9	0	213	0.105081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.679	0.0475041477189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.53900	T	0.336	0.34124	T	0.999	0.90584	D	0.989	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.54	0.13725	N	-1.31	0.79666	T	-3.5	0.68298	D	0.928	0.95139	0.036	0.82969	D	0.482	0.80205	T	10	0.8320574	0.82367	D	0.047504	0.62952	D	0.679	0.88205	0.598	0.72862	0.765312620283	0.76316	0.9505245979181556	0.95036	2.12633044952	0.95074	0.794296979904	0.81096	T	0.503085	0.82273	D	0.222721	0.76033	D	0.0821472	0.75720	D	0.938564615564625	0.60928	D	0.79772	0.44184	T	0.9565074	0.96926	0.8445915	0.91143	0.9565074	0.96926	0.8445915	0.91143	-16.429	0.98336	D	.	.	0.949	0.86814	P	.;.;.;.;.;.	.;.;.;.;.;.	5.668071	0.92919	33	0.99401680195169373	0.62841	0.95078	0.63357	D	AEFDGBCI	0.948544	0.96027	D	0.585474125636482	0.72268	5.778968	0.626633119523619	0.76879	6.573287	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	9.597000	0.97445	8.536000	0.77474	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	1689.69	130	chr10	124998080	.	G	C	1689.69	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-0.126;DP=923;ExcessHet=2.5225;FS=10.025;MLEAC=5;MLEAF=0.5;MQ=57.97;MQRankSum=-7.482;QD=3.7;ReadPosRankSum=1.65;SOR=1.589	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,1:10:15:0|1:124998077_C_G:15,0,375:124998077	1	0	4	2
chr10	124998087	124998087	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.A646G:p.R216G,CTBP2:NM_022802:exon4:c.A2062G:p.R688G,CTBP2:NM_001321013:exon5:c.A442G:p.R148G,CTBP2:NM_001083914:exon6:c.A442G:p.R148G,CTBP2:NM_001290214:exon6:c.A442G:p.R148G,CTBP2:NM_001290215:exon6:c.A442G:p.R148G,CTBP2:NM_001321012:exon6:c.A442G:p.R148G,CTBP2:NM_001321014:exon6:c.A442G:p.R148G,CTBP2:NM_001329:exon6:c.A442G:p.R148G	.	414	922	177	9	0	195	0.0956351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.592	0.187163960256	.	.	.	.	.	.	.	.	.	.	.	.	.	rs914098337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.46513	T	0.114	0.50226	T	0.889	0.56408	P	0.532	0.59825	P	0.000000	0.84330	D	0.000000	0.999931	0.51612	D	1.53	0.38800	L	-1.44	0.80815	T	-6.41	0.91868	D	0.945	0.95491	-0.1393	0.79182	T	0.443	0.78033	T	10	0.8510742	0.84286	D	0.187164	0.85921	D	0.592	0.83747	0.59	0.71874	0.975786130339	0.97552	0.9668684472081748	0.96674	1.31579442616	0.83326	0.803737461567	0.82533	D	0.582432	0.86347	D	0.299844	0.82957	D	0.192928	0.82736	D	0.96776270866394	0.68017	D	0.831417	0.49863	T	0.8377413	0.86447	0.72207403	0.83588	0.8377413	0.86448	0.72207403	0.83589	-13.47	0.92423	D	.	.	0.990	0.93663	P	.;.;.;.;.;.	.;.;.;.;.;.	3.151647	0.42666	21.6	0.99467938748563089	0.66154	0.20835	0.21186	N	AEFDGBCI	0.404313	0.47765	N	-0.449297695031707	0.23763	1.278434	-0.489554569803757	0.22440	1.218867	0.999987001428746	0.51787	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	0.468	0.15943	-0.037000	0.12116	0.229000	0.16167	-0.876000	0.02500	0.022000	0.19841	0.016000	0.20520	0.945000	0.48827	0.0:0.0:0.2754:0.7246	17.140	0.86628	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	1665.69	125	chr10	124998087	.	T	C	1665.69	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-0.215;DP=923;ExcessHet=2.5225;FS=10.025;MLEAC=5;MLEAF=0.5;MQ=58;MQRankSum=-7.618;QD=3.58;ReadPosRankSum=2.67;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,1:10:15:0|1:124998077_C_G:15,0,375:124998077	1	0	4	2
chr10	124998090	124998090	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C643T:p.R215W,CTBP2:NM_022802:exon4:c.C2059T:p.R687W,CTBP2:NM_001321013:exon5:c.C439T:p.R147W,CTBP2:NM_001083914:exon6:c.C439T:p.R147W,CTBP2:NM_001290214:exon6:c.C439T:p.R147W,CTBP2:NM_001290215:exon6:c.C439T:p.R147W,CTBP2:NM_001321012:exon6:c.C439T:p.R147W,CTBP2:NM_001321014:exon6:c.C439T:p.R147W,CTBP2:NM_001329:exon6:c.C439T:p.R147W	.	413	929	171	9	0	189	0.0923302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.874	0.341150234986	.	.	.	.	.	.	.	.	.	.	.	.	.	rs945665113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.59928	D	0.005	0.74150	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.78	0.95251	H	-2.1	0.86146	D	-7.06	0.95511	D	0.966	0.98840	0.927	0.96063	D	0.842	0.94722	D	10	0.9513125	0.94468	D	0.34115	0.92018	D	0.874	0.96243	0.801	0.92017	0.936821863726	0.93617	0.9793425394167631	0.97925	2.04020034352	0.94242	0.869401991367	0.92483	D	0.888608	0.97719	D	0.413835	0.90693	D	0.356669	0.90576	D	0.995111286640167	0.86855	D	0.922308	0.71764	D	0.9076591	0.92078	0.81096756	0.88961	0.9076591	0.92079	0.81096756	0.88962	-12.412	0.89971	D	.	.	0.994	0.94938	P	.;.;.;.;.;.	.;.;.;.;.;.	5.386720	0.90260	31	0.99921174864262352	0.98787	0.83216	0.42352	D	AEFDGBCI	0.811773	0.73467	D	0.762974766057605	0.83747	8.099164	0.668520105960494	0.79996	7.201961	0.999999999894642	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	2.889000	0.48300	4.484000	0.43545	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	1644.69	126	chr10	124998090	.	G	A	1644.69	.	AC=4;AF=0.4;AN=10;BaseQRankSum=0;DP=931;ExcessHet=2.5225;FS=10.161;MLEAC=5;MLEAF=0.5;MQ=58.03;MQRankSum=-7.662;QD=3.48;ReadPosRankSum=3.3;SOR=1.651	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,1:10:15:0|1:124998077_C_G:15,0,375:124998077	1	0	4	2
chr10	124998111	124998111	A	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T622G:p.C208G,CTBP2:NM_022802:exon4:c.T2038G:p.C680G,CTBP2:NM_001321013:exon5:c.T418G:p.C140G,CTBP2:NM_001083914:exon6:c.T418G:p.C140G,CTBP2:NM_001290214:exon6:c.T418G:p.C140G,CTBP2:NM_001290215:exon6:c.T418G:p.C140G,CTBP2:NM_001321012:exon6:c.T418G:p.C140G,CTBP2:NM_001321014:exon6:c.T418G:p.C140G,CTBP2:NM_001329:exon6:c.T418G:p.C140G	.	410	944	157	11	0	179	0.0865989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.706	0.118222220686	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796159102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.28271	T	0.677	0.30045	T	0.792	0.44688	P	0.742	0.55764	P	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.895	0.01383	N	-1.16	0.78082	T	-10.62	0.99118	D	0.915	0.92084	-0.3132	0.74615	T	0.196	0.55013	T	10	0.8713615	0.86403	D	0.118222	0.79821	D	0.706	0.89468	0.702	0.83869	0.912513623049	0.91163	0.9715165431574718	0.97140	1.07786358497	0.77034	0.792436718941	0.80814	T	0.566859	0.85593	D	0.34296	0.86036	D	0.254862	0.85852	D	0.979450762271881	0.72840	D	0.749425	0.37065	T	0.9582798	0.97106	0.86085767	0.92237	0.9582798	0.97106	0.86085767	0.92238	-11.17	0.90895	D	.	.	0.677	0.72022	P	.;.;.;.;.;.	.;.;.;.;.;.	4.908805	0.80750	27.4	0.97552676337226596	0.34577	0.93781	0.59173	D	AEFDGBCI	0.967747	0.99022	D	-0.0331808542601439	0.40357	2.395268	0.177505344340639	0.48618	3.075226	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	8.942000	0.92506	11.101000	0.86122	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.839000	0.39591	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	1597.76	128	chr10	124998111	.	A	C	1597.76	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-0.605;DP=935;ExcessHet=2.5225;FS=8.287;MLEAC=5;MLEAF=0.5;MQ=58.06;MQRankSum=-7.794;QD=3.36;ReadPosRankSum=4.81;SOR=1.46	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,1:7:24:0|1:124998111_A_C:24,0,249:124998111	1	0	4	2
chr10	124998113	124998113	A	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T620C:p.I207T,CTBP2:NM_022802:exon4:c.T2036C:p.I679T,CTBP2:NM_001321013:exon5:c.T416C:p.I139T,CTBP2:NM_001083914:exon6:c.T416C:p.I139T,CTBP2:NM_001290214:exon6:c.T416C:p.I139T,CTBP2:NM_001290215:exon6:c.T416C:p.I139T,CTBP2:NM_001321012:exon6:c.T416C:p.I139T,CTBP2:NM_001321014:exon6:c.T416C:p.I139T,CTBP2:NM_001329:exon6:c.T416C:p.I139T	.	407	952	152	11	0	174	0.0837344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.0441406922816	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376695472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.49117	D	0.018	0.63109	D	0.009	0.16609	B	0.245	0.43514	B	0.005992	0.32354	N	0.362203	0.988384	0.40754	D	1.57	0.39626	L	0.83	0.47815	T	-2.71	0.62630	D	0.584	0.63544	-0.4637	0.69944	T	0.283	0.65458	T	10	0.6084408	0.67308	D	0.044141	0.61343	D	0.345	0.66676	0.751	0.88155	0.737279644149	0.73493	0.9229225010523135	0.92269	2.07736266856	0.94533	0.59366941452	0.52011	T	0.642362	0.89048	D	0.0826065	0.62345	D	-0.119118	0.61876	T	0.971555709838867	0.69361	D	0.751225	0.37284	T	0.56677717	0.70883	0.3280792	0.58700	0.56677717	0.70884	0.3280792	0.58699	-8.556	0.67961	D	.	.	0.481	0.69086	A	.;.;.;.;.;.	.;.;.;.;.;.	3.559859	0.50089	22.9	0.99260520779104144	0.57188	0.90885	0.52445	D	AEFDGBCI	0.920892	0.89354	D	0.260421526544683	0.54157	3.581951	0.337703125837148	0.57769	3.944058	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.143000	0.76935	7.993000	0.76119	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.563000	0.30483	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	1576.76	126	chr10	124998113	.	A	G	1576.76	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-0.313;DP=933;ExcessHet=2.5225;FS=8.287;MLEAC=5;MLEAF=0.5;MQ=58.06;MQRankSum=-7.838;QD=3.26;ReadPosRankSum=4.74;SOR=1.458	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,1:7:24:0|1:124998111_A_C:24,0,249:124998111	1	0	4	2
chr10	125002983	125002983	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A539C:p.D180A,CTBP2:NM_022802:exon3:c.A1955C:p.D652A,CTBP2:NM_001321013:exon4:c.A335C:p.D112A,CTBP2:NM_001083914:exon5:c.A335C:p.D112A,CTBP2:NM_001290214:exon5:c.A335C:p.D112A,CTBP2:NM_001290215:exon5:c.A335C:p.D112A,CTBP2:NM_001321012:exon5:c.A335C:p.D112A,CTBP2:NM_001321014:exon5:c.A335C:p.D112A,CTBP2:NM_001329:exon5:c.A335C:p.D112A	.	450	846	218	8	0	234	0.121495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.948	0.596276217237	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796433756	6.844e-07	6.84e-07	0	1.376e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.70582	D	0.997	0.70673	D	0.894	0.63417	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.935	0.84639	M	-3.5	0.94658	D	-7.18	0.94786	D	0.995	0.99954	1.048	0.98073	D	0.913	0.97116	D	10	0.98108125	0.98114	D	0.596276	0.96430	D	0.948	0.98990	0.847	0.95025	0.985246513857	0.98508	0.9901502538290843	0.99010	2.21030123888	0.95757	0.827131271362	0.86123	D	0.80395	0.95030	D	0.531082	0.95186	D	0.525086	0.95114	D	0.997385203838348	0.91430	D	0.69753	0.30746	T	0.9735778	0.98583	0.92888653	0.97017	0.9735778	0.98583	0.92888653	0.97018	-12.406	0.90114	D	.	.	0.981	0.91385	P	.;.;.;.;.;.	.;.;.;.;.;.	5.332404	0.89486	30	0.99357061535026048	0.60820	0.97620	0.75953	D	AEFDGBCI	0.936879	0.93385	D	0.65147023026997	0.76465	6.491341	0.533343637265574	0.70246	5.477253	0.999999999999824	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.68	4.68	0.58319	8.017000	0.88732	7.781000	0.68671	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.428	0.66804	926	0.17793	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	154.79	62	chr10	125002983	.	T	G	154.79	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.345;DP=539;ExcessHet=0.3476;FS=1.255;MLEAC=2;MLEAF=0.167;MQ=55.91;MQRankSum=0;QD=3.04;ReadPosRankSum=-0.992;SOR=0.681	GT:AD:DP:GQ:PL	0/1:5,3:8:50:50,0,176	4	0	2	1
chr10	125003006	125003006	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A516G:p.I172M,CTBP2:NM_022802:exon3:c.A1932G:p.I644M,CTBP2:NM_001321013:exon4:c.A312G:p.I104M,CTBP2:NM_001083914:exon5:c.A312G:p.I104M,CTBP2:NM_001290214:exon5:c.A312G:p.I104M,CTBP2:NM_001290215:exon5:c.A312G:p.I104M,CTBP2:NM_001321012:exon5:c.A312G:p.I104M,CTBP2:NM_001321014:exon5:c.A312G:p.I104M,CTBP2:NM_001329:exon5:c.A312G:p.I104M	.	446	735	288	11	42	352	0.174157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.0321536739593	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs112239066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.08	0.63918	T	0.181	0.33195	B	0.448	0.54942	P	0.000000	0.84330	D	0.041576	0.999844	0.50061	D	0.75	0.19020	N	0.49	0.55775	T	-2.64	0.58569	D	0.836	0.83269	-0.7500	0.57935	T	0.204	0.56197	T	10	0.6425146	0.69138	D	0.032154	0.54058	D	0.299	0.61955	0.608	0.74063	0.888756313204	0.88766	0.8899222963871994	0.88962	1.97030917324	0.93550	0.763966917992	0.76522	T	0.498739	0.82005	T	0.153991	0.69642	D	-0.0165792	0.69254	D	0.892641007900238	0.54376	D	0.971703	0.89738	D	0.900253	0.91405	0.73775256	0.84500	0.900253	0.91406	0.73775256	0.84501	-11.638	0.83043	D	.	.	0.704	0.73111	P	.;.;.;.;.;.	.;.;.;.;.;.	3.009532	0.40238	21.1	0.98800960143032701	0.46445	0.70557	0.34640	D	AEFDGBCI	0.375410	0.45995	N	-0.354523303243395	0.27107	1.484558	-0.382971277888603	0.25504	1.402991	0.999987104814068	0.51787	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	-0.385	0.11849	0.087000	0.14801	-2.864000	0.03283	0.661000	0.55757	0.984000	0.35821	0.000000	0.08366	0.987000	0.62547	0.1048:0.0:0.556:0.3392	9.404	0.37616	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	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	557.05	62	chr10	125003006	.	T	C	557.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.345;DP=568;ExcessHet=1.1394;FS=1.866;MLEAC=3;MLEAF=0.25;MQ=56.74;MQRankSum=-3.356;QD=3.62;ReadPosRankSum=-0.135;SOR=0.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,3:8:99:0|1:125003006_T_C:111,0,201:125003006	3	0	3	1
chr10	125003008	125003008	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A514G:p.I172V,CTBP2:NM_022802:exon3:c.A1930G:p.I644V,CTBP2:NM_001321013:exon4:c.A310G:p.I104V,CTBP2:NM_001083914:exon5:c.A310G:p.I104V,CTBP2:NM_001290214:exon5:c.A310G:p.I104V,CTBP2:NM_001290215:exon5:c.A310G:p.I104V,CTBP2:NM_001321012:exon5:c.A310G:p.I104V,CTBP2:NM_001321014:exon5:c.A310G:p.I104V,CTBP2:NM_001329:exon5:c.A310G:p.I104V	.	445	756	296	11	14	332	0.17377	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.00473531755394	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs112508291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.49117	T	0.225	0.53426	T	0.077	0.31731	B	0.17	0.40265	B	0.000000	0.84330	D	0.041576	0.999999	0.58761	D	0.695	0.17993	N	0.75	0.50192	T	-0.79	0.24026	N	0.556	0.58202	-0.9237	0.45041	T	0.114	0.40582	T	10	0.38906825	0.54757	T	0.004735	0.11784	T	0.268	0.58254	0.543	0.65589	0.617811438573	0.61472	0.8191908894802049	0.81876	0.844564219319	0.68219	0.727838099003	0.71190	T	0.212424	0.57347	T	0.0218691	0.54635	T	-0.206363	0.54044	T	0.846796572208405	0.49891	D	0.80082	0.44648	T	0.6371357	0.74678	0.6131621	0.77490	0.6371357	0.74680	0.6131621	0.77491	-10.157	0.74846	D	.	.	0.354	0.56812	A	.;.;.;.;.;.	.;.;.;.;.;.	4.218404	0.63791	24.6	0.9760612770993129	0.34876	0.96140	0.67716	D	AEFDGBCI	0.953944	0.97066	D	-0.0415507725916174	0.39979	2.366619	0.072950189852906	0.43195	2.62624	0.999999999999936	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.94	0.64645	6.271000	0.72566	7.738000	0.67953	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	14.902	0.70330	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	551.05	62	chr10	125003008	.	T	C	551.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.347;DP=573;ExcessHet=1.1394;FS=1.864;MLEAC=3;MLEAF=0.25;MQ=56.78;MQRankSum=-3.356;QD=3.53;ReadPosRankSum=0.396;SOR=1.002	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,3:8:99:0|1:125003006_T_C:111,0,201:125003006	3	0	3	1
chr10	125003010	125003010	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.G512A:p.R171Q,CTBP2:NM_022802:exon3:c.G1928A:p.R643Q,CTBP2:NM_001321013:exon4:c.G308A:p.R103Q,CTBP2:NM_001083914:exon5:c.G308A:p.R103Q,CTBP2:NM_001290214:exon5:c.G308A:p.R103Q,CTBP2:NM_001290215:exon5:c.G308A:p.R103Q,CTBP2:NM_001321012:exon5:c.G308A:p.R103Q,CTBP2:NM_001321014:exon5:c.G308A:p.R103Q,CTBP2:NM_001329:exon5:c.G308A:p.R103Q	.	444	756	297	11	14	333	0.174222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.504	0.05280934696	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs760489730	3.421e-06	3.42e-06	4.084e-06	2.751e-06	2.698e-06	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.49117	D	0.097	0.47828	T	0.981	0.70673	D	0.87	0.69585	P	0.000002	0.62929	D	0.103452	0.999999	0.58761	D	1.885	0.50048	L	0.74	0.50459	T	-3.3	0.70553	D	0.879	0.89020	-0.3679	0.73025	T	0.302	0.67288	T	10	0.8397628	0.83130	D	0.052809	0.65217	D	0.504	0.78600	0.649	0.78648	0.920337149778	0.91953	0.9496583447662756	0.94948	2.13197071687	0.95171	0.73884499073	0.72801	T	0.615991	0.87897	D	0.255676	0.79129	D	0.129484	0.78858	D	0.985857844352722	0.76728	D	0.876112	0.58827	D	0.93815976	0.95059	0.8432051	0.91051	0.93815976	0.95060	0.8432051	0.91051	-13.433	0.93329	D	.	.	0.974	0.90036	P	.;.;.;.;.;.	.;.;.;.;.;.	5.858587	0.93846	33	0.99909411540893078	0.97949	0.95340	0.64339	D	AEFDGBCI	0.924502	0.90264	D	0.389332597998194	0.60844	4.277879	0.288795626305503	0.54883	3.652246	0.999999999992808	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.04	0.46262	6.159000	0.71664	3.924000	0.40490	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9243:0.0:0.0757	13.592	0.61434	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	557.05	62	chr10	125003010	.	C	T	557.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.938;DP=596;ExcessHet=1.1394;FS=7.688;MLEAC=3;MLEAF=0.25;MQ=57.22;MQRankSum=-3.356;QD=3.62;ReadPosRankSum=0.414;SOR=1.382	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,3:8:99:0|1:125003006_T_C:111,0,201:125003006	3	0	3	1
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	.	.	.	.	.	.	.	.	0.1667	541.79	70	chr10	125003036	.	C	A	541.79	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.589;DP=592;ExcessHet=0.3476;FS=6.435;MLEAC=2;MLEAF=0.167;MQ=56.93;MQRankSum=-3.807;QD=9.85;ReadPosRankSum=2.07;SOR=1.323	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,3:7:99:0|1:125003036_C_A:114,0,159:125003036	4	0	2	1
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	.	.	.	.	.	.	.	.	0.3333	632.29	68	chr10	125003062	.	T	A	632.29	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.345;DP=621;ExcessHet=2.5225;FS=10.332;MLEAC=4;MLEAF=0.333;MQ=57.1;MQRankSum=-4.221;QD=2.54;ReadPosRankSum=1.29;SOR=1.623	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,3:8:99:0|1:125003062_T_A:111,0,201:125003062	2	0	4	1
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	.	.	.	.	.	.	.	.	0.3333	632.29	68	chr10	125003065	.	T	A	632.29	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.345;DP=624;ExcessHet=2.5225;FS=10.332;MLEAC=4;MLEAF=0.333;MQ=57.12;MQRankSum=-4.221;QD=2.54;ReadPosRankSum=1.29;SOR=1.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,3:8:99:0|1:125003062_T_A:111,0,201:125003062	2	0	4	1
chr10	125003091	125003091	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.C431T:p.A144V,CTBP2:NM_022802:exon3:c.C1847T:p.A616V,CTBP2:NM_001321013:exon4:c.C227T:p.A76V,CTBP2:NM_001083914:exon5:c.C227T:p.A76V,CTBP2:NM_001290214:exon5:c.C227T:p.A76V,CTBP2:NM_001290215:exon5:c.C227T:p.A76V,CTBP2:NM_001321012:exon5:c.C227T:p.A76V,CTBP2:NM_001321014:exon5:c.C227T:p.A76V,CTBP2:NM_001329:exon5:c.C227T:p.A76V	.	423	874	217	8	0	233	0.117617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.428	0.0396646121041	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs3198935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.04	0.53788	D	0.997	0.70673	D	0.9	0.67350	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.63	0.41750	L	0.64	0.52867	T	-3.59	0.72353	D	0.83	0.86404	-0.7342	0.58751	T	0.234	0.60063	T	10	0.85133255	0.84313	D	0.039665	0.58940	D	0.428	0.73517	0.615	0.74884	0.805301142055	0.80348	0.9739020719154817	0.97380	1.79913636405	0.91619	0.833252906799	0.87062	D	0.558733	0.85191	D	0.278003	0.81145	D	0.161556	0.80903	D	0.981222689151764	0.73791	D	0.836316	0.50742	T	0.71443444	0.78852	0.29747087	0.55780	0.71443444	0.78854	0.29747087	0.55779	-11.965	0.84680	D	.	.	0.991	0.94980	P	.;.;.;.;.;.	.;.;.;.;.;.	4.805965	0.78137	26.8	0.99882348519737318	0.95813	0.98748	0.86347	D	AEFDGBCI	0.955612	0.97357	D	0.457477404135832	0.64629	4.721769	0.367611348405123	0.59576	4.136584	1.0	0.98316	0.645754	0.44609	0	0.633656	0.55848	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	4.68	4.68	0.58319	10.003000	0.99689	11.683000	0.94248	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.222000	0.22517	0.0:0.0:1.0:0.0	17.956	0.88988	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	.	.	.	.	.	.	.	.	0.1667	242.79	65	chr10	125003091	.	G	A	242.79	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.189;DP=519;ExcessHet=0.3476;FS=2.665;MLEAC=2;MLEAF=0.167;MQ=55.13;MQRankSum=0;QD=4.67;ReadPosRankSum=-1.96;SOR=1.021	GT:AD:DP:GQ:PL	0/1:3,3:6:84:84,0,94	4	0	2	1
chr10	125003105	125003105	C	T	splicing	CTBP2	NM_001290214:exon5:c.214-1G>A;NM_001321013:exon4:c.214-1G>A;NM_001329:exon5:c.214-1G>A;NM_001290215:exon5:c.214-1G>A;NM_001321012:exon5:c.214-1G>A;NM_001321014:exon5:c.214-1G>A;NM_001083914:exon5:c.214-1G>A;NM_001363508:exon3:c.418-1G>A;NM_022802:exon3:c.1834-1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.89	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225786	0.76323	D	0.0865494	0.76014	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.	.;.;.;.;.;.	6.142422	0.94657	34	0.99186554228697821	0.54848	0.98144	0.79977	D	AEFDGBCI	.	.	.	0.957874635170878	0.94294	12.64636	0.734653814125909	0.85008	8.453678	1.0	0.98316	0.298561	0.05477	0	0.097471	0.02872	0	0.193828	0.04512	0	0.195515	0.04268	0	0.970061	0.72327	4.68	4.68	0.58319	6.165000	0.71729	7.482000	0.59270	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.153000	0.20410	0.0:1.0:0.0:0.0	17.956	0.88988	925	0.17918	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	71.58	85	chr10	125003105	.	C	T	71.58	.	AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=579;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=53.58;MQRankSum=0;QD=14.32;ReadPosRankSum=-1.645;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:75:0|1:125003105_C_T:75,0,120:125003105	0	0	1	6
chr10	127000232	127000232	G	A	exonic	DOCK1	.	nonsynonymous SNV	DOCK1:NM_001377548:exon9:c.G826A:p.V276M,DOCK1:NM_001290223:exon10:c.G910A:p.V304M,DOCK1:NM_001377543:exon10:c.G910A:p.V304M,DOCK1:NM_001377546:exon10:c.G910A:p.V304M,DOCK1:NM_001377547:exon10:c.G910A:p.V304M,DOCK1:NM_001377550:exon10:c.G910A:p.V304M,DOCK1:NM_001377553:exon10:c.G910A:p.V304M,DOCK1:NM_001377554:exon10:c.G910A:p.V304M,DOCK1:NM_001377556:exon10:c.G910A:p.V304M,DOCK1:NM_001377558:exon10:c.G910A:p.V304M,DOCK1:NM_001377561:exon10:c.G910A:p.V304M,DOCK1:NM_001380:exon10:c.G910A:p.V304M,DOCK1:NM_001377544:exon11:c.G946A:p.V316M	.	437	1078	7	0	0	7	0.00323625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.046347622442	0.0002	0.000798722	0.0004	0.0001	0	0.0007	0	0.0003	0	0.0015	0.0003622	56	154602	rs140885933	0.0002	0.0002	0.0002	0.0003	0.0014	0.0002	0.0002	0.0008	0.0007	8.961e-05	2.236e-05	0	0.0005	0	0.0014	0.0002	0.0002	0.0010	0.0002	0.0002	0.0002	0.0002	0.0012	0.0002	0.0001	0.0005	0.0004	9.62e-05	0	6.534e-05	0	0.0002	0	0	0.0003	0.0005	0.0012	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.968	0.71741	D	0.000000	0.84330	D	0.000000	0.99999	0.58761	D	2.395	0.69210	M	2.21	0.18414	T	-2.34	0.51811	N	0.747	0.79986	-0.7829	0.56138	T	0.141	0.46128	T	10	0.14782885	0.28004	T	0.046348	0.62414	D	0.249	0.55752	.	.	0.760220652421	0.75804	0.51917120791775	0.51840	0.579807686353	0.53841	0.838862717152	0.87922	D	0.226574	0.59164	T	-0.261796	0.12691	T	-0.209426	0.53750	T	0.125348836183548	0.14946	T	0.964104	0.87634	D	0.46630123	0.65063	0.43444094	0.66963	0.46630123	0.65063	0.43444094	0.66964	-10.843	0.78789	D	.	.	0.338	0.57367	B	.;.	.;.	5.314227	0.89205	29.9	0.99912686714736221	0.98167	0.97933	0.78233	D	AEFBI	0.870116	0.79095	D	0.792486105364203	0.85633	8.634673	0.701042066268976	0.82458	7.771916	0.999937248686193	0.46732	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.0	4.0	0.45673	8.016000	0.88334	11.550000	0.93175	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	17.431	0.87431	947	0.11584	Dedicator of cytokinesis, N-terminal domain;Dedicator of cytokinesis, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.000000	0.1429	111.4	33	chr10	127000232	.	G	A	111.4	.	AC=2;AF=0.143;AN=14;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=27.85;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,4:4:12:131,12,0	6	1	0	0
chr10	133532153	133532153	G	A	exonic	CYP2E1	.	nonsynonymous SNV	CYP2E1:NM_000773:exon4:c.G517A:p.G173S	.	423	1054	41	4	0	49	0.0227167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	.	0.0016	0.00219649	0.0035	0.0004	0.0013	0.0002	0.0005	0.0023	0.0044	0.0149	0.0031759	491	154602	rs60452492	0.0025	0.0025	0.0021	0.0029	0.0154	0.0024	0.0024	0.0147	0.0144	0.0002	0.0011	0.0080	0.0002	0.0005	0.0090	0.0016	0.0031	0.0154	0.0016	0.0016	0.0014	0.0018	0.0146	0.0015	0.0014	0.0118	0.0108	0.0005	0	0.0018	0.0075	0	0.0004	0.0034	0.0014	0.0019	0.0146	0.755	0.06145	T	0.773	0.06643	T	1.0	0.90584	D	1.0	0.97372	D	0.000002	0.62929	D	0.166180	0.791814	0.81001	D	1.07	0.27075	L	-0.22	0.66474	T	-2.8	0.65397	D	0.061	0.03283	-0.7936	0.55520	T	0.201	0.55737	T	10	0.007817626	0.00177	T	.	.	.	0.280	0.59740	.	.	0.709176414936	0.70664	0.5636643323569762	0.56293	1.0264605321	0.75294	0.411144316196	0.26615	T	0.390271	0.75049	T	-0.423312	0.01630	T	-0.369159	0.36987	T	0.0578869794120568	0.06831	T	0.872413	0.59112	D	0.50080454	0.67142	0.23776327	0.49082	0.50080454	0.67143	0.23776327	0.49081	-5.062	0.37505	T	.	.	0.188	0.44986	B	.;.;.;.	.;.;.;.	2.884045	0.38170	20.7	0.99060141632020249	0.51459	0.68786	0.33935	D	AEFDBI	0.825157	0.74490	D	0.0103509905861311	0.42325	2.548068	-0.0130856296977882	0.39122	2.314954	0.999433092208	0.39683	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	4.59	4.59	0.56297	3.226000	0.50956	3.498000	0.38759	0.674000	0.70861	0.583000	0.27610	1.000000	0.68203	0.004000	0.06068	0.0982:0.0:0.9018:0.0	8.844	0.34318	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	0.008560	0.000000	0.002717	0.000000	0.000000	0.017241	0.009146	0.030303	0.1429	168.55	37	chr10	133532153	.	G	A	168.55	.	AC=2;AF=0.143;AN=14;DP=211;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=33.71;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,5:5:15:189,15,0	6	1	0	0
chr11	866625	866625	G	A	exonic	TSPAN4	.	nonsynonymous SNV	TSPAN4:NM_001025238:exon8:c.G712A:p.A238T,TSPAN4:NM_001025239:exon8:c.G520A:p.A174T,TSPAN4:NM_001025234:exon9:c.G712A:p.A238T,TSPAN4:NM_001025235:exon9:c.G712A:p.A238T,TSPAN4:NM_001025236:exon9:c.G712A:p.A238T,TSPAN4:NM_001025237:exon9:c.G712A:p.A238T,TSPAN4:NM_003271:exon9:c.G712A:p.A238T	.	419	1096	7	0	0	7	0.00318327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.0402346795513	0.0028	0.00139776	0.0022	0.0009	0.0019	0	0.0003	0.0035	0.0012	6.403e-05	0.0022639	350	154602	rs141360844	0.0033	0.0033	0.0034	0.0032	0.0075	0.0032	0.0032	0.0057	0.0051	0.0007	0.0023	0.0077	2.524e-05	0.0009	0.0075	0.0038	0.0034	0.0001	0.0025	0.0025	0.0027	0.0022	0.0036	0.0023	0.0022	0.0032	0.0031	0.0010	0.0011	0.0029	0.0069	0	0.0003	0.0136	0.0036	0.0057	0	0.0	0.91255	D	0.0	0.92824	D	0.96	0.55278	D	0.302	0.41118	B	.	.	.	.	0.971996	0.40074	D	0.65	0.16133	N	1.25	0.48142	T	-0.38	0.14588	N	0.148	0.31253	-1.0506	0.14230	T	0.051	0.21689	T	9	0.0068392158	0.00155	T	0.040235	0.59263	D	0.124	0.34239	.	.	0.277730125212	0.27379	0.6991727849766166	0.69858	0.296259426705	0.32010	0.511959254742	0.40496	T	0.020946	0.16402	T	-0.412174	0.01923	T	-0.367257	0.37210	T	0.0367746028653149	0.03116	T	0.881612	0.60121	D	0.081580564	0.18751	0.17816259	0.40467	0.081580564	0.18751	0.17816259	0.40466	-7.036	0.54296	T	.	.	0.092	0.15564	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.585709	0.33535	19.37	0.99502428138580923	0.68089	0.81372	0.40789	D	AEFDBHCI	0.736084	0.68170	D	-0.249051094884133	0.31142	1.743243	-0.283949720418294	0.28625	1.597577	0.999988518683506	0.51787	0.67177	0.52595	0	0.643519	0.57511	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.2	3.27	0.36580	1.741000	0.37862	4.261000	0.42805	-0.174000	0.10959	0.912000	0.31733	1.000000	0.68203	0.072000	0.16771	0.0945:0.0:0.9055:0.0	10.239	0.42479	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	0.009596	0.015152	0.020436	0.005882	0.000000	0.000000	0.000000	0.000000	0.07143	73.44	37	chr11	866625	.	G	A	73.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.282;DP=228;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=1.28;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,4:5:27:84,0,27	6	0	1	0
chr11	1017757	1017757	G	C	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C5044G:p.L1682V	.	345	982	192	1	2	196	0.0898981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00213510693467	.	.	.	.	.	.	.	.	.	.	.	.	.	rs79198757	6.983e-07	1.574e-05	1.388e-06	0	9.14e-07	0	0	.	.	0	0	0	0	0	0	9.14e-07	0	0	0	0.0009	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.075	0.34444	T	0.44	0.13328	T	0.007	0.14184	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	2.24	0.17923	T	0.08	0.06026	N	0.032	0.00825	-0.9478	0.41347	T	0.018	0.07423	T	9	0.05399272	0.05679	T	0.002135	0.03962	T	0.006	0.00375	.	.	0.163833314356	0.15978	0.06941283035713278	0.06879	0.0894955809572	0.10113	0.175648033619	0.00060	T	0.020274	0.15991	T	-0.266298	0.12172	T	-0.620295	0.11162	T	0.144849189737094	0.16686	T	.	.	.	0.04678791	0.07891	0.073207155	0.15881	0.04678791	0.07891	0.073207155	0.15881	-7.088	0.54674	T	.	.	0.071	0.03773	B	.	.	0.537745	0.09066	5.846	0.27983464666671348	0.01415	0.06097	0.12072	N	AEFDGBCI	0.029553	0.02811	N	-1.28891088933583	0.03808	0.170769	-1.35273483076499	0.03774	0.1767243	0.999986779026299	0.51787	0.004792	0.00041	3	0.008208	0.00037	3	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.79	-0.615	0.11005	0.197000	0.16999	-5.159000	0.01826	0.526000	0.24426	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.4083:0.5917	5.758	0.17453	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	.	.	.	.	.	.	.	.	0.1667	2243.08	863	chr11	1017757	.	G	C	2243.08	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.724;DP=4798;ExcessHet=1.1394;FS=1.65;MLEAC=2;MLEAF=0.167;MQ=57.61;MQRankSum=-12.36;QD=1.73;ReadPosRankSum=1.66;SOR=0.953	GT:AD:DP:GQ:PL	0/1:33,5:43:0:111,0,1371	4	0	2	1
chr11	1017790	1017790	T	C	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.A5011G:p.M1671V	.	353	1167	2	0	0	2	0.000856164	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00206868014145	.	.	.	.	.	.	.	.	.	.	.	.	.	rs553011039	0	1.644e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0005	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.908	0.02378	T	0.616	0.07543	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.12	0.28775	L	2.45	0.15028	T	0.52	0.02853	N	0.043	0.01577	-0.9518	0.40660	T	0.015	0.06234	T	9	0.04430124	0.03372	T	0.002069	0.03801	T	0.009	0.00846	0.215	0.13498	0.128392430309	0.12331	0.1698396690787368	0.16903	0.0903522985447	0.10192	0.189743891358	0.00220	T	0.00904	0.08254	T	-0.263823	0.12457	T	-0.61674	0.11443	T	0.0995563883410625	0.12308	T	.	.	.	0.08071921	0.18509	0.09361893	0.22120	0.08071921	0.18508	0.09361893	0.22120	-4.909	0.35836	T	.	.	0.068	0.02639	B	.	.	-1.187701	0.00543	0.013	0.27800630014354044	0.01397	0.00823	0.03322	N	AEFDGBCI	0.015391	0.00291	N	-1.49328543186723	0.01897	0.08324014	-1.57596161061009	0.01803	0.08209328	0.999991288406582	0.74766	0.004792	0.00041	3	0.008208	0.00037	3	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.31	-1.76	0.07574	-0.699000	0.05188	-20.000000	0.00162	0.366000	0.20181	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3071:0.4386:0.0:0.2543	1.845	0.02967	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	61.44	819	chr11	1017790	.	T	C	61.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.805;DP=5068;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=56.17;MQRankSum=-4.264;QD=1.71;ReadPosRankSum=1;SOR=0.582	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,4:36:72:0|1:1017790_T_C:72,0,1332:1017790	6	0	1	0
chr11	1243062	1243062	C	G	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C6182G:p.A2061G	.	424	926	82	2	88	174	0.0443756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	.	0.00898562	0.0119	0.0017	0.0069	0.0002	0.0003	0.0111	0.0237	0.0347	0.0008732	135	154602	rs61997210	0.0093	0.0093	0.0083	0.0104	0.0494	0.0092	0.0091	0.0446	0.0428	0.0019	0.0074	0.0427	0.0001	0.0007	0.0494	0.0071	0.0130	0.0357	0.0074	0.0074	0.0071	0.0078	0.0282	0.0071	0.0069	0.0243	0.0229	0.0017	0.0033	0.0098	0.0383	0.0002	0.0007	0.0884	0.0084	0.0142	0.0282	0.063	0.36709	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.34	0.67151	M	2.26	0.17596	T	-0.93	0.24898	N	0.038	0.01203	-0.9838	0.34116	T	0.040	0.17191	T	9	0.003387034	0.00059	T	.	.	.	0.030	0.07022	.	.	.	.	0.11933029641628383	0.11860	.	.	0.172272831202	0.00042	T	0.022813	0.17520	T	-0.712371	0.00031	T	-0.770285	0.02758	T	0.00459172025389433	0.00049	T	0.618038	0.23687	T	0.04650555	0.07794	0.055332977	0.09686	0.04650555	0.07793	0.055332977	0.09686	-6.395	0.49471	T	.	.	0.139	0.30318	B	.	.	-0.149876	0.03357	0.595	0.51709723328190837	0.04612	0.06366	0.12366	N	AEFI	0.107211	0.21368	N	-1.03137825171341	0.07958	0.3714802	-1.19298340184668	0.06026	0.2888513	1.82559760139279E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	1.96	-1.97	0.07091	-1.131000	0.03349	-1.620000	0.05046	-0.400000	0.05303	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1889:0.4363:0.3747:0.0	5.827	0.17816	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	6049.51	72	chr11	1243062	.	C	G	6049.51	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.975;DP=786;ExcessHet=0.4813;FS=1.752;MLEAC=3;MLEAF=0.214;MQ=50.49;MQRankSum=-0.847;QD=10.75;ReadPosRankSum=0.353;SOR=0.644	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,10:10:30:1|1:1243045_A_G:385,30,0:1243045	5	1	1	0
chr11	4367590	4367590	A	G	exonic	OR52B4	.	nonsynonymous SNV	OR52B4:NM_001005161:exon1:c.T706C:p.C236R	.	429	1071	22	0	0	22	0.0101664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	0.0057	0.00439297	0.0071	0.0040	0.0033	0	0.0144	0.0081	0.0167	0.0077	0.0070051	1083	154602	rs188379419	0.0072	0.0072	0.0072	0.0072	0.0088	0.0071	0.0071	0.0076	0.0074	0.0042	0.0044	0.0005	0	0.0126	0.0088	0.0075	0.0064	0.0081	0.0062	0.0062	0.0062	0.0062	0.0083	0.0058	0.0057	0.0066	0.0064	0.0039	0	0.0077	0	0	0.0112	0.0034	0.0071	0.0085	0.0083	.	.	.	.	.	.	0.0	0.02946	B	0.0	0.01387	B	0.051494	0.22977	N	0.221665	1	0.08975	N	-2.71	0.00031	N	.	.	.	.	.	.	.	.	-0.9066	0.47262	T	0.000	0.00011	T	10	0.0037121773	0.00069	T	.	.	.	.	.	.	.	.	.	0.1851336697854112	0.18431	.	.	0.168012857437	0.00025	T	0.00487	0.04291	T	-0.76087	0.00015	T	-0.859174	0.00852	T	0.00399443872231525	0.00042	T	0.39886	0.10126	T	0.083401285	0.19259	0.13406897	0.32135	0.083401285	0.19259	0.13406897	0.32135	-0.86	0.00857	T	.	.	0.043	0.00029	B	.	.	0.298625	0.06746	3.257	0.1651914719798423	0.00446	0.00603	0.02688	N	AEFI	0.022254	0.01089	N	-1.5929550592995	0.01300	0.05661013	-1.41894528192085	0.03063	0.1421457	2.22779719317676E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.27	2.43	0.28797	-0.274000	0.08569	.	.	-0.694000	0.04098	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3919:0.1414:0.4667:0.0	5.044	0.13814	851	0.35303	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	0.008560	0.000000	0.013587	0.000000	0.000000	0.008621	0.009146	0.015152	0.07143	88.44	36	chr11	4367590	.	A	G	88.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.18;DP=230;ExcessHet=0;FS=2.808;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=0.7;SOR=0.148	GT:AD:DP:GQ:PL	0/1:5,4:9:99:99,0,144	6	0	1	0
chr11	4653052	4653052	A	G	exonic	OR51E1	.	nonsynonymous SNV	OR51E1:NM_152430:exon2:c.A526G:p.I176V	.	433	995	91	3	0	97	0.0464782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	.	0.0028	0.0115815	0.0098	0.0006	0.0034	0	0.0002	0.0041	0.0100	0.0547	0.0085704	1325	154602	rs61746313	0.0051	0.0051	0.0035	0.0068	0.0518	0.0050	0.0050	0.0505	0.0500	0.0005	0.0027	0.0085	0.0002	5.617e-05	0.0307	0.0019	0.0070	0.0518	0.0039	0.0039	0.0032	0.0046	0.0496	0.0036	0.0035	0.0445	0.0425	0.0005	0.0011	0.0058	0.0086	0.0004	0.0003	0.0136	0.0028	0.0057	0.0496	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.140478	0.18308	N	0.501168	1	0.08975	N	.	.	.	1.29	0.35775	T	0.38	0.03579	N	0.023	0.00407	-0.9871	0.33323	T	0.033	0.14029	T	10	0.001768142	0.00023	T	.	.	.	0.095	0.27398	.	.	0.0297737177859	0.01360	0.12332486038305565	0.12258	0.105741972977	0.11956	0.271344333887	0.06317	T	.	.	.	-0.722216	0.00027	T	-0.770713	0.02744	T	0.00988813361863609	0.00131	T	0.357364	0.08134	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.02894	B	.	.	0.262711	0.06410	2.879	0.16601044500135223	0.00451	0.05363	0.11223	N	AEFBI	0.114271	0.22514	N	-1.06097716116596	0.07374	0.3423423	-0.968385012516924	0.10500	0.5292187	0.00349446597818093	0.10145	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.98	3.87	0.43823	-0.128000	0.10508	.	.	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.739000	0.35404	0.7307:0.0:0.2692:0.0	5.953	0.18491	814	0.42100	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019134	0.000000	0.009511	0.014620	0.000000	0.008621	0.033537	0.045455	0.07143	53.44	84	chr11	4653052	.	A	G	53.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.83;DP=582;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.91;ReadPosRankSum=-1.834;SOR=0.223	GT:AD:DP:GQ:PL	0/1:4,2:6:64:64,0,111	6	0	1	0
chr11	6214536	6214536	G	A	exonic	FAM160A2	.	nonsynonymous SNV	FAM160A2:NM_001098794:exon11:c.C2432T:p.A811V,FAM160A2:NM_032127:exon11:c.C2474T:p.A825V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.0449158250514	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1467164737	6.158e-06	9.577e-06	5.447e-06	6.877e-06	2.988e-05	2.9e-06	2.1e-06	2.62e-06	1.68e-06	2.988e-05	0	0	0	0	0	6.296e-06	0	1.16e-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	0.348	0.25664	T	0.165	0.30926	T	1.0	0.90584	D	0.991	0.84481	D	0.000000	0.84330	D	0.000000	0.99813	0.44547	D	1.89	0.50145	L	2.81	0.11189	T	-1.5	0.36586	N	0.649	0.66016	-1.1590	0.00781	T	0.069	0.28247	T	10	0.5232914	0.62765	D	0.044916	0.61725	D	0.221	0.51721	0.191	0.10171	0.228066490088	0.22430	0.5454720935081884	0.54473	1.07642500469	0.76987	0.72725301981	0.71105	T	0.023495	0.17926	T	0.00470156	0.52303	T	-0.231023	0.51673	T	0.816160261631012	0.47489	D	0.90061	0.65471	D	0.20185435	0.42211	0.2133388	0.45840	0.20185435	0.42211	0.2133388	0.45839	-9.272	0.69595	D	.	.	0.763	0.78061	P	.;.	.;.	5.451530	0.91058	32	0.99918932389719883	0.98586	0.99420	0.95802	D	AEFDBI	0.869631	0.79025	D	0.699734434709294	0.79613	7.11512	0.703075820650026	0.82611	7.810395	0.999999999985765	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.19	5.19	0.71428	9.466000	0.96830	11.905000	0.99459	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.696	0.88187	617	0.66297	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	111.4	38	chr11	6214536	.	G	A	111.4	.	AC=2;AF=0.143;AN=14;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=27.85;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,4:4:12:131,12,0	6	1	0	0
chr11	6217709	6217709	C	T	exonic	FAM160A2	.	nonsynonymous SNV	FAM160A2:NM_001098794:exon9:c.G1877A:p.G626D,FAM160A2:NM_032127:exon9:c.G1919A:p.G640D	.	0	225	0	1	0	2	0.00442478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.0218417202056	.	.	1.778e-05	0.0001	0	0	0	0	0	6.444e-05	1.29e-05	2	154602	rs781556644	1.713e-05	1.847e-05	1.772e-05	1.653e-05	0.0035	1.176e-05	9.94e-06	0.0023	0.0019	8.973e-05	0	0	0	0	0.0035	0	1.658e-05	1.162e-05	6.573e-06	6.562e-06	1.286e-05	0	2.409e-05	0	0	.	.	2.409e-05	0	0	0	0	0	0	0	0	0	0.286	0.28900	T	0.612	0.07791	T	0.0	0.07471	B	0.0	0.06944	B	0.783862	0.09450	N	0.918964	0.996667	0.22942	N	0.695	0.17993	N	0.91	0.44856	T	0.23	0.06612	N	0.22	0.25499	-1.0086	0.27354	T	0.066	0.27121	T	10	0.060829937	0.07532	T	0.021842	0.44662	T	0.079	0.23065	0.128	0.03331	0.276254252017	0.27237	0.40591355211082003	0.40507	0.426506705413	0.43025	0.405392259359	0.25818	T	0.008662	0.09967	T	-0.346708	0.04937	T	-0.451085	0.27578	T	0.0207600221037865	0.00776	T	0.691431	0.30091	T	0.04103429	0.05968	0.05630023	0.10035	0.04103429	0.05967	0.05630023	0.10034	-4.915	0.35903	T	.	.	0.071	0.11989	B	.;.;.	.;.;.	1.878915	0.23864	16.18	0.44452581502719479	0.03419	0.74928	0.36667	D	AEFDBI	0.142500	0.26495	N	-0.59563794027626	0.19076	0.9955872	-0.46577930385668	0.23102	1.258187	0.844925267073573	0.24935	0.67177	0.52595	0	0.702456	0.74545	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.31	3.41	0.38145	2.713000	0.46862	3.707000	0.39544	0.599000	0.40250	0.850000	0.30445	1.000000	0.68203	0.323000	0.25040	0.0:0.7544:0.1608:0.0847	8.341	0.31403	600	0.68026	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.010101	0.002717	0.005848	0.000000	0.008621	0.000000	0.000000	0.07143	65.44	35	chr11	6217709	.	C	T	65.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.645;DP=302;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.524;SOR=0.223	GT:AD:DP:GQ:PL	0/1:2,3:5:71:76,0,71	6	0	1	0
chr11	6390705	6390711	TGCTGGC	0	exonic	SMPD1	.	.	.	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	10434.5	35	chr11	6390705	.	TGCTGGC	*	10434.5	.	AC=3;AF=0.214;AN=14;DP=433;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=32.31;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,2:2:6:.:.:70,6,0:.	5	1	1	0
chr11	7651662	7651662	G	C	exonic	PPFIBP2	.	nonsynonymous SNV	PPFIBP2:NM_001256569:exon19:c.G1825C:p.E609Q,PPFIBP2:NM_001256568:exon20:c.G1918C:p.E640Q,PPFIBP2:NM_001351858:exon21:c.G2023C:p.E675Q,PPFIBP2:NM_001351860:exon21:c.G2047C:p.E683Q,PPFIBP2:NM_001351861:exon21:c.G2023C:p.E675Q,PPFIBP2:NM_001351857:exon22:c.G2056C:p.E686Q,PPFIBP2:NM_001351859:exon22:c.G2056C:p.E686Q,PPFIBP2:NM_001351854:exon23:c.G2254C:p.E752Q,PPFIBP2:NM_001351856:exon23:c.G2260C:p.E754Q,PPFIBP2:NM_003621:exon23:c.G2254C:p.E752Q,PPFIBP2:NM_001351853:exon24:c.G2287C:p.E763Q,PPFIBP2:NM_001351855:exon24:c.G2287C:p.E763Q,PPFIBP2:NM_001351862:exon24:c.G2254C:p.E752Q	.	429	1092	1	0	0	1	0.000457666	.	.	.	2370952	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.484	0.0629551402401	7.7e-05	0.000199681	0.0002	0	0	0	0	0.0002	0.0011	0.0004	0.0001811	28	154602	rs143255201	0.0001	0.0001	0.0001	0.0001	0.0007	9.046e-05	8.526e-05	0.0002	0.0001	0	2.252e-05	0.0033	0	0	0.0007	3.17e-05	0.0002	0.0002	0.0001	0.0001	7.711e-05	0.0002	0.0006	8.663e-05	7.255e-05	0.0002	8.989e-05	0	0	0	0.0035	0	0	0	7.352e-05	0	0.0006	0.002	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.000000	1	0.81001	D	2.785	0.81254	M	0.98	0.42122	T	-2.82	0.59710	D	0.964	0.98065	-0.3160	0.74534	T	0.333	0.70068	T	10	0.22521698	0.39345	T	0.062955	0.68815	D	0.484	0.77335	.	.	0.819578996456	0.81787	0.8677161865813222	0.86736	0.225848792887	0.25137	0.824064135551	0.85651	D	0.501093	0.82143	D	0.0723504	0.61133	D	0.184223	0.82238	D	0.23103454458052	0.22001	T	0.997586	0.99036	D	0.62158	0.73848	0.4984594	0.71001	0.62158	0.73849	0.4984594	0.71001	-10.69	0.77930	D	.	.	0.791	0.76888	P	.;.;.;.	.;.;.;.	5.630383	0.92671	32	0.99865978488272988	0.94366	0.99068	0.90757	D	AEFDBCI	0.939903	0.94113	D	0.982591125704564	0.95185	13.38465	0.923329434466555	0.96511	14.78651	0.999999999999885	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.635551	0.53088	0	.	.	5.77	5.77	0.91077	10.003000	0.99689	11.875000	0.98678	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.0:1.0:0.0	17.836	0.88611	733	0.53988	Sterile alpha motif domain|Sterile alpha motif domain|Liprin-beta, SAM domain repeat 3;Sterile alpha motif domain|Sterile alpha motif domain|Liprin-beta, SAM domain repeat 3;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.1429	73.0	40	chr11	7651662	.	G	C	73.0	.	AC=2;AF=0.143;AN=14;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=24.33;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,3:3:9:91,9,0	6	1	0	0
chr11	8730100	8730100	T	C	exonic	DENND2B	.	nonsynonymous SNV	DENND2B:NM_001376499:exon2:c.A650G:p.E217G,DENND2B:NM_001376498:exon3:c.A1190G:p.E397G,DENND2B:NM_213618:exon3:c.A1190G:p.E397G,DENND2B:NM_001376497:exon4:c.A1190G:p.E397G,DENND2B:NM_001376500:exon4:c.A509G:p.E170G,DENND2B:NM_001376496:exon5:c.A1190G:p.E397G,DENND2B:NM_005418:exon6:c.A1190G:p.E397G,DENND2B:NM_001376495:exon7:c.A1190G:p.E397G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.00793598913344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.026	0.55759	D	0.895	0.49247	P	0.468	0.46719	P	0.000020	0.62929	D	0.154265	0.999956	0.81001	D	1.59	0.40313	L	3.32	0.06214	T	-3.04	0.62863	D	0.554	0.57946	-1.1764	0.00425	T	0.032	0.13635	T	10	0.3726871	0.53597	T	0.007936	0.21059	T	0.200	0.48430	0.176	0.08257	0.110392049598	0.10638	0.18906831598123316	0.18824	0.782382142484	0.65358	0.633539915085	0.57647	T	0.264984	0.63681	T	-0.0693166	0.41436	T	-0.337345	0.40646	T	0.962216556072235	0.66304	D	0.917308	0.70348	D	0.19089854	0.40694	0.22522332	0.47460	0.19089854	0.40694	0.22522332	0.47459	-8.094	0.61709	D	.	.	0.286	0.51806	B	.;.	.;.	4.679143	0.74868	26.2	0.99897843867738523	0.97048	0.96799	0.71002	D	AEFDGBCI	0.967136	0.98961	D	0.617073806425867	0.74254	6.101559	0.685456410667593	0.81273	7.488545	0.999999999999975	0.74766	0.743674	0.98306	0	0.610034	0.51514	0	0.630245	0.45026	0	0.655142	0.61905	0	.	.	6.17	6.17	0.99707	7.674000	0.83146	7.936000	0.75280	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.822	0.85699	536	0.73233	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	67.44	33	chr11	8730100	.	T	C	67.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=312;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.86;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,2:4:28:0|1:8730093_G_C:78,0,28:8730093	6	0	1	0
chr11	12293628	12293628	G	A	exonic	MICALCL	.	nonsynonymous SNV	MICALCL:NM_032867:exon3:c.G197A:p.R66Q	.	437	1018	62	5	0	72	0.0341556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	0.0046	0.00998403	0.0073	0.0015	0.0062	0.0242	0.0038	0.0056	0.0056	0.0110	0.0066558	1029	154602	rs148792670	0.0062	0.0062	0.0060	0.0064	0.0217	0.0061	0.0060	0.0186	0.0179	0.0008	0.0049	0.0054	0.0195	0.0027	0.0217	0.0056	0.0083	0.0099	0.0051	0.0052	0.0051	0.0052	0.0231	0.0048	0.0047	0.0197	0.0184	0.0010	0.0044	0.0056	0.0061	0.0231	0.0027	0.0170	0.0061	0.0071	0.0102	0.673	0.04521	T	0.502	0.11115	T	.	.	.	.	.	.	0.530288	0.11646	N	0.701301	1	0.08975	N	.	.	.	3.36	0.05918	T	0.25	0.04456	N	0.03	0.00717	-0.9170	0.45958	T	0.003	0.01026	T	10	0.0025303662	0.00038	T	.	.	.	0.007	0.00512	.	.	0.132336055621	0.12781	.	.	0.0162568994873	0.01562	0.216049045324	0.01094	T	.	.	.	-0.742639	0.00020	T	-0.818576	0.01482	T	0.00101569959699687	0.00010	T	0.488651	0.14976	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.18622	B	.;.	.;.	0.231460	0.06126	2.572	0.78592888275697237	0.12368	0.01101	0.04040	N	AEFDBI	0.030233	0.03004	N	-1.85835775263321	0.00417	0.0179525	-1.81897311249413	0.00700	0.03118622	0.955462753322834	0.28190	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.71	-3.9	0.03904	0.079000	0.14636	1.571000	0.27417	-0.763000	0.03499	0.079000	0.22314	0.968000	0.29604	0.003000	0.05239	0.3934:0.0:0.4217:0.1849	7.360	0.25913	906	0.23090	.;.	.	.	.	.	rs148792670	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018630	0.000000	0.021739	0.035088	0.000000	0.025862	0.021341	0.011364	0.1429	1051.24	107	chr11	12293628	.	G	A	1051.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.73;DP=291;ExcessHet=0.3476;FS=2.397;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.06;ReadPosRankSum=0.594;SOR=0.487	GT:AD:DP:GQ:PL	0/1:7,2:9:57:57,0,163	5	0	2	0
chr11	17410524	17410524	C	A	exonic	ABCC8	.	nonsynonymous SNV	ABCC8:NM_000352:exon22:c.G2686T:p.A896S,ABCC8:NM_001287174:exon22:c.G2689T:p.A897S,ABCC8:NM_001351295:exon22:c.G2752T:p.A918S,ABCC8:NM_001351296:exon22:c.G2686T:p.A896S,ABCC8:NM_001351297:exon22:c.G2683T:p.A895S	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.748	0.518874336747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.34800	T	0.083	0.41405	T	0.866	0.47610	P	0.766	0.56676	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.86	0.49225	L	-3.79	0.95663	D	-2.58	0.55662	D	0.814	0.81063	0.940	0.96245	D	0.893	0.96462	D	10	0.93596876	0.92927	D	0.518874	0.95416	D	0.748	0.91328	0.82	0.93328	0.960715626261	0.96029	0.6933529392469057	0.69275	0.540596893397	0.51250	0.827973246574	0.86253	D	0.668592	0.90137	D	0.333148	0.85374	D	0.240768	0.85182	D	0.952651917934418	0.63842	D	0.906109	0.69158	D	0.52633643	0.68622	0.33688512	0.59485	0.52633643	0.68623	0.33688512	0.59485	-7.529	0.58353	D	0.6056492590569686	0.67291	0.299	0.59454	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.084831	0.84876	28.4	0.99749969311008679	0.84152	0.98715	0.85931	D	AEFBI	0.952062	0.96718	D	0.774305775118254	0.84476	8.298264	0.820113944385384	0.91154	10.74584	0.999999999999073	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	6.17	6.17	0.99707	7.591000	0.81934	7.611000	0.61914	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.060	0.93068	586	0.69252	ABC transporter-like|AAA+ ATPase domain;.;ABC transporter-like|AAA+ ATPase domain;.;ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr11	17410524	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr11	22218262	22218262	A	G	exonic	ANO5	.	nonsynonymous SNV	ANO5:NM_001142649:exon4:c.A152G:p.N51S,ANO5:NM_213599:exon4:c.A155G:p.N52S	Gnathodiaphyseal dysplasia, Autosomal dominant;Miyoshi muscular dystrophy 3, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2L, Autosomal recessive	2	1504	16	0	0	16	0.00529101	.	.	YES	194564	Gnathodiaphyseal_dysplasia|not_provided|not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2L|ANO5-Related_Muscle_Diseases	MONDO:MONDO:0008151,MedGen:C1833736,OMIM:166260,Orphanet:53697|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012652,MedGen:C1969785,OMIM:611307,Orphanet:206549|MedGen:CN180644	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.167	0.0771798226101	0.0025	0.00119808	0.0019	0.0007	0.0023	0	0.0012	0.0024	0.0055	0.0016	0.0020181	312	154602	rs143777403	0.0028	0.0028	0.0027	0.0028	0.0045	0.0027	0.0027	0.0032	0.0030	0.0006	0.0021	3.83e-05	0	0.0013	0.0045	0.0031	0.0028	0.0023	0.0024	0.0024	0.0026	0.0022	0.0048	0.0022	0.0021	0.0039	0.0036	0.0008	0	0.0048	0.0003	0	0.0009	0	0.0034	0.0033	0.0021	0.155	0.24183	T	0.354	0.17268	T	0.982	0.60036	D	0.473	0.46845	P	0.000094	0.51296	D	0.136478	0.867587	0.35502	D	1.28	0.32218	L	-0.55	0.71068	T	-1.51	0.36787	N	0.828	0.82358	-0.5162	0.68058	T	0.288	0.65968	T	10	0.037495136	0.02108	T	0.07718	0.72709	D	0.167	0.42761	.	.	0.855486035999	0.85409	0.31611475711489445	0.31524	0.41921375861	0.42481	0.45931917429	0.33217	T	0.059543	0.31144	T	-0.472193	0.00824	T	-0.451569	0.27523	T	0.0119192627461977	0.00186	T	0.735226	0.35154	T	0.11971893	0.28185	0.14512795	0.34431	0.11971893	0.28184	0.14512795	0.34430	-3.364	0.14576	T	.	.	0.116	0.23360	B	.	.	3.078039	0.41394	21.3	0.99346575813317328	0.60412	0.97183	0.73178	D	AEFI	0.677588	0.64224	D	0.406070488179022	0.61755	4.381049	0.483276382154926	0.66882	5.010275	0.973475985227051	0.29459	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.87	5.87	0.94266	6.137000	0.71462	11.125000	0.86648	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.281	0.82514	795	0.45444	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.003788	0.07143	308.44	34	chr11	22218262	.	A	G	308.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.633;DP=249;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.14;ReadPosRankSum=-0.397;SOR=0.836	GT:AD:DP:GQ:PL	0/1:4,13:17:80:319,0,80	6	0	1	0
chr11	36081727	36081727	C	T	exonic	LDLRAD3	.	nonsynonymous SNV	LDLRAD3:NM_001304263:exon2:c.C121T:p.R41W,LDLRAD3:NM_174902:exon3:c.C268T:p.R90W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.704	0.151399969727	7.7e-05	.	3.295e-05	9.61e-05	0	0	0	4.496e-05	0	0	2.59e-05	4	154602	rs150528116	8.893e-06	8.893e-06	1.089e-05	6.875e-06	0.0002	4.96e-06	3.82e-06	2.375e-05	1.258e-05	8.961e-05	0	0	0	0	0.0002	7.194e-06	0	1.159e-05	1.314e-05	1.313e-05	2.569e-05	0	4.827e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.827e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.019	0.62352	D	0.998	0.73220	D	0.786	0.57542	P	0.000033	0.55875	D	0.119843	0.99845	0.44939	D	1.83	0.48079	L	-3.87	0.95922	D	-6.31	0.90812	D	0.703	0.70702	0.976	0.96795	D	0.906	0.96869	D	10	0.8781126	0.87111	D	0.151	0.83296	D	0.704	0.89376	.	.	0.92121323827	0.92041	0.7384707591224909	0.73792	0.656936052451	0.58672	0.481767177582	0.36300	T	0.591855	0.86791	D	0.0885904	0.63029	D	0.126146	0.78639	D	0.930612206459045	0.59543	D	0.938306	0.78180	D	0.6714732	0.76511	0.6300697	0.78422	0.6714732	0.76512	0.6300697	0.78423	-10.458	0.79012	D	.	.	0.447	0.78883	A	.;.;.	.;.;.	5.530069	0.91865	32	0.99932630733970518	0.99439	0.96471	0.69303	D	AEFGBI	0.783861	0.71472	D	0.733150028040288	0.81804	7.609071	0.715647168678387	0.83566	8.055639	0.999725407489171	0.42220	0.706548	0.73137	0	0.588015	0.36545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.95	5.01	0.66477	3.827000	0.55445	2.652000	0.33822	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.810000	0.38174	0.2519:0.7481:0.0:0.0	14.849	0.69917	949	0.11373	.;Low-density lipoprotein (LDL) receptor class A, conserved site;Low-density lipoprotein (LDL) receptor class A, 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	.	.	.	.	.	.	.	.	0.07143	226.44	37	chr11	36081727	.	C	T	226.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.621;DP=260;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.17;ReadPosRankSum=-0.78;SOR=0.399	GT:AD:DP:GQ:PL	0/1:4,10:14:78:237,0,78	6	0	1	0
chr11	56159903	56159903	G	A	exonic	OR8K5	.	stopgain	OR8K5:NM_001004058:exon1:c.C415T:p.R139X	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	.	0.0003	0.0002	8.646e-05	0	0	0.0005	0.0011	0.0002	0.0002846	44	154602	rs199580379	0.0004	0.0004	0.0004	0.0004	0.0007	0.0004	0.0004	0.0004	0.0004	0.0002	0.0003	0.0002	0	0	0.0007	0.0005	0.0005	0.0001	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0003	0.0002	0.0001	0	0.0006	0.0003	0	0	0	0.0003	0.0010	0	.	.	.	.	.	.	.	.	.	.	.	.	0.005447	0.32788	N	0.217057	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.011	0.00110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0395545	0.46014	T	0.0234793	0.71855	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	4.501458	0.70410	25.5	0.96762180123514518	0.31001	0.05119	0.10924	N	AEFI	0.037642	0.05207	N	-0.371291944181149	0.26498	1.446562	-0.73110486930214	0.16188	0.8551483	1.12606036061458E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.18	-0.0501	0.13162	-0.610000	0.05724	.	.	-1.939000	0.00492	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.4694:0.5306	11.181	0.47858	161	0.93754	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	55.44	37	chr11	56159903	.	G	A	55.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.473;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.04;ReadPosRankSum=0.456;SOR=0.495	GT:AD:DP:GQ:PL	0/1:7,4:11:66:66,0,157	6	0	1	0
chr11	57501173	57501173	C	A	exonic	SLC43A1	.	nonsynonymous SNV	SLC43A1:NM_001198810:exon3:c.G311T:p.R104L,SLC43A1:NM_003627:exon3:c.G311T:p.R104L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.634	0.372658309171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999651	0.48079	D	2.955	0.85029	M	-0.41	0.69413	T	-5.5	0.90100	D	0.825	0.82057	0.021	0.82682	D	0.501	0.81139	D	10	0.8859631	0.87924	D	0.372658	0.92784	D	0.634	0.85975	0.671	0.80903	0.870100256649	0.86884	0.8315601841165274	0.83115	1.03705223134	0.75649	0.525544464588	0.42407	T	0.752799	0.93239	D	0.348267	0.86388	D	0.262485	0.86209	D	0.998499512672424	0.94310	D	0.979702	0.93041	D	0.7430435	0.80466	0.7044259	0.82578	0.7430435	0.80468	0.7044259	0.82579	-11.492	0.82288	D	.	.	0.64	0.70734	P	.;.;.;.	.;.;.;.	5.100304	0.85214	28.5	0.99855310283623266	0.93458	0.99364	0.95061	D	AEFDBI	0.897684	0.84014	D	0.740854866430814	0.82308	7.730701	0.675020469410884	0.80484	7.30963	0.999999999999678	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.26897	0.05253	2	0.635551	0.53088	0	.	.	5.33	5.33	0.75683	7.513000	0.80629	7.635000	0.62917	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.777000	0.36790	0.0:1.0:0.0:0.0	17.801	0.88498	71	0.96981	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	.	.	.	.	.	.	.	.	0.1429	33.22	35	chr11	57501173	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=229;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr11	59861632	59861632	C	T	exonic	TCN1	.	nonsynonymous SNV	TCN1:NM_001062:exon4:c.G451A:p.V151I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00645096305427	.	.	4.12e-05	9.615e-05	0	0.0001	0	1.499e-05	0	0.0001	3.23e-05	5	154602	rs778765850	6.157e-06	6.156e-06	6.806e-06	5.5e-06	2.987e-05	2.9e-06	2.1e-06	3.85e-06	1.44e-06	2.987e-05	0	0	2.519e-05	1.872e-05	0	3.597e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.192	0.28300	T	0.993	0.65571	D	0.724	0.55036	P	0.028737	0.25559	N	0.252226	1	0.08975	N	0.785	0.19527	N	1.38	0.34050	T	-0.12	0.08809	N	0.213	0.23758	-1.0186	0.24171	T	0.081	0.32002	T	10	0.30375177	0.47904	T	0.006451	0.16985	T	0.094	0.27141	0.558	0.67684	0.296329037015	0.29243	0.10810940965695995	0.10739	0.0228081127972	0.02307	0.314822524786	0.12636	T	0.014734	0.12488	T	-0.392991	0.02573	T	-0.620753	0.11126	T	0.167977795004845	0.18442	T	0.554844	0.19218	T	0.04748367	0.08124	0.055391487	0.09708	0.04748367	0.08124	0.055391487	0.09707	-4.65	0.32794	T	.	.	0.087	0.11076	B	.	.	0.450449	0.08207	4.942	0.98533991525576348	0.42632	0.02025	0.06077	N	AEFBI	0.037931	0.05291	N	-0.606297942132066	0.18755	0.9762104	-0.754500087738284	0.15612	0.8219381	0.356093112353329	0.19731	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.12	0.898	0.18397	-0.518000	0.06353	-1.864000	0.04590	-0.223000	0.07921	0.000000	0.06391	0.000000	0.08366	0.098000	0.18187	0.0:0.4231:0.491:0.0859	9.103	0.35844	730	0.54327	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.1429	72.0	34	chr11	59861632	.	C	T	72.0	.	AC=2;AF=0.143;AN=14;DP=201;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=24;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,3:3:9:90,9,0	6	1	0	0
chr11	64234021	64234021	G	A	exonic	DNAJC4	.	nonsynonymous SNV	DNAJC4:NM_001307980:exon5:c.G658A:p.E220K,DNAJC4:NM_001307981:exon5:c.G655A:p.E219K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00715823970857	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186620424	2.737e-06	2.736e-06	2.723e-06	2.751e-06	2.519e-05	6.4e-07	4.3e-07	.	.	0	0	0	2.519e-05	0	0	8.993e-07	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.19500	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.91	0.23283	T	-0.32	0.12283	N	0.206	0.22870	-0.9952	0.31245	T	0.033	0.14117	T	7	0.08141434	0.13324	T	0.007158	0.18979	T	0.016	0.02506	0.304	0.27325	0.104622674875	0.10061	0.293912324175219	0.29304	.	.	.	.	.	.	.	.	-0.449579	0.01136	T	-0.714438	0.05069	T	0.0150587609498875	0.00325	T	0.321368	0.06521	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.15025	B	.	.	0.342286	0.07159	3.741	0.89473415904511266	0.18827	0.04644	0.10314	N	AEFDGBCI	0.105587	0.21093	N	-1.04194648044503	0.07746	0.3608787	-1.0945134404302	0.07807	0.3812541	0.999999752222019	0.74766	0.789315	0.99827	0	0.685571	0.66316	0	0.768056	0.98339	0	0.554799	0.18163	0	.	.	4.13	1.22	0.20300	-0.143000	0.10278	0.007000	0.13381	-0.897000	0.02353	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3461:0.0:0.6539:0.0	5.714	0.17221	658	0.62094	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	139.44	33	chr11	64234021	.	G	A	139.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.21;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=1.72;SOR=1.329	GT:AD:DP:GQ:PL	0/1:4,6:10:86:150,0,86	6	0	1	0
chr11	64265358	64265358	T	C	exonic	PLCB3	.	nonsynonymous SNV	PLCB3:NM_001184883:exon23:c.T2690C:p.V897A,PLCB3:NM_000932:exon25:c.T2891C:p.V964A,PLCB3:NM_001316314:exon25:c.T2891C:p.V964A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00791294378071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.28148	T	0.493	0.16570	T	0.001	0.07471	B	0.007	0.12992	B	0.027160	0.25803	N	0.380225	0.855536	0.28433	N	1.935	0.51832	L	2.64	0.12780	T	-1.42	0.39503	N	0.116	0.10483	-1.0214	0.23259	T	0.023	0.09787	T	10	0.12211034	0.23158	T	0.007913	0.20981	T	0.018	0.03083	0.436	0.48828	0.236619781664	0.23270	0.17301067010046492	0.17221	0.299701892937	0.32337	0.529899775982	0.43020	T	0.318286	0.68968	T	-0.327762	0.06283	T	-0.708584	0.05369	T	0.0669284802218926	0.08214	T	0.470053	0.14216	T	0.0464116	0.07764	0.043541897	0.05439	0.0464116	0.07764	0.043541897	0.05438	-2.604	0.06853	T	.	.	0.099	0.25199	B	.;.;.	.;.;.	2.098279	0.26693	17.21	0.85159624612034412	0.15721	0.89068	0.49316	D	AEFBI	0.107614	0.21435	N	-0.716467483494333	0.15559	0.7851659	-0.620726352147576	0.18961	1.015243	0.885492120626384	0.25719	0.706548	0.73137	0	0.708844	0.79440	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	5.2	1.41	0.21461	0.314000	0.19182	-0.043000	0.12644	-0.137000	0.12594	0.009000	0.18154	0.538000	0.25400	0.284000	0.24115	0.0:0.1839:0.1688:0.6474	4.379	0.10717	658	0.62094	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	55.44	34	chr11	64265358	.	T	C	55.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.319;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.93;ReadPosRankSum=2.1;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,2:8:66:0|1:64265358_T_C:66,0,226:64265358	6	0	1	0
chr11	65046336	65046336	G	A	exonic	NAALADL1	.	nonsynonymous SNV	NAALADL1:NM_005468:exon15:c.C1708T:p.R570W	.	426	1093	3	0	0	3	0.00137049	.	.	.	2379853	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.081	0.0322433999128	0.0002	0.000199681	7.425e-05	0	0	0	0	3.002e-05	0	0.0004	6.47e-05	10	154602	rs377372068	4.788e-05	4.788e-05	3.403e-05	6.188e-05	0.0007	3.86e-05	3.54e-05	0.0003	0.0002	0	0	0	0	0	0.0007	2.068e-05	0.0002	0.0004	3.939e-05	3.937e-05	5.139e-05	2.685e-05	0.0006	1.714e-05	1.129e-05	0.0002	8.989e-05	0	0	0	0	0	0	0	4.41e-05	0	0.0006	0.001	0.78490	D	0.002	0.83351	D	0.996	0.68779	D	0.776	0.57120	P	0.000016	0.62929	D	0.110586	0.996724	0.81001	D	3.51	0.92865	H	0.92	0.44461	T	-5.8	0.89272	D	0.68	0.68690	-0.5503	0.66775	T	0.222	0.58575	T	10	0.36838457	0.53282	T	0.032243	0.54125	D	0.352	0.67326	.	.	0.692700823852	0.69006	0.6999753470941038	0.69938	0.635986766396	0.57397	0.186677008867	0.00172	T	0.45943	0.79701	T	-0.195812	0.21409	T	-0.19708	0.54922	T	0.936217188835144	0.60504	D	0.947205	0.79675	D	0.6587317	0.75831	0.40530536	0.64934	0.6587317	0.75832	0.40530536	0.64934	-10.161	0.74870	D	.	.	0.218	0.56468	B	.;.;.;.;.	.;.;.;.;.	4.652637	0.74177	26.1	0.98808069480926564	0.46574	0.93833	0.59322	D	AEFDBI	0.402445	0.47653	N	0.344285002825177	0.58438	4.016085	0.204933568693647	0.50122	3.207494	0.993699958833654	0.33317	0.67177	0.52595	0	0.702456	0.74545	0	0.696353	0.63694	0	0.604944	0.38103	0	.	.	4.6	3.67	0.41236	2.963000	0.48877	4.897000	0.45822	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.613000	0.31716	0.0:0.0:0.8259:0.1741	12.027	0.52672	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.1429	195.19	35	chr11	65046336	.	G	A	195.19	.	AC=2;AF=0.143;AN=14;DP=230;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=27.88;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,7:7:21:1|1:65046336_G_A:216,21,0:65046336	6	1	0	0
chr11	65965090	65965090	A	G	splicing	SART1	NM_005146:exon4:c.428-2A>G	.	.	.	.	.	.	.	.	.	.	1.0000	0.924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210828	0.74907	D	0.0650628	0.74580	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.880494	0.93928	33	0.95940929958283039	0.28244	0.96460	0.69249	D	AEFDBI	0.423990	0.48934	N	0.853141601245763	0.89286	9.909964	0.639233631014677	0.77813	6.751895	0.999907027610762	0.45458	0.631515	0.41029	0	0.697927	0.68747	0	0.608075	0.38828	0	0.491896	0.07777	0	.	.	4.0	2.86	0.32427	5.772000	0.68543	10.997000	0.84734	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.8978:0.0:0.1022:0.0	7.790	0.28276	229	0.91079	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr11	65965090	.	A	G	33.22	.	AC=2;AF=0.143;AN=14;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr11	66068674	66068674	-	A	exonic	SF3B2	.	frameshift insertion	SF3B2:NM_006842:exon22:c.2618dupA:p.R876Tfs*16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	.	7.508e-05	0.0002	0	0	0	4.551e-05	0.0022	0.0001	0.0016521	43	26028	rs759211171	1.029e-05	0.0005	1.502e-05	5.513e-06	1.082e-05	6.18e-06	4.9e-06	5.77e-06	4.56e-06	0	0	0	0	3.753e-05	0	1.082e-05	1.66e-05	0	6.61e-06	1.316e-05	1.291e-05	0	1.475e-05	0	0	.	.	0	0	0	0	0	0	0	1.475e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	38.4	35	chr11	66068674	.	C	CA	38.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.967;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:21:49,0,21	6	0	1	0
chr11	66369490	66369490	T	C	exonic	SLC29A2	.	nonsynonymous SNV	SLC29A2:NM_001532:exon3:c.A154G:p.R52G,SLC29A2:NM_001300868:exon5:c.A154G:p.R52G,SLC29A2:NM_001300869:exon5:c.A154G:p.R52G	.	392	1117	13	0	0	13	0.00578549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	0.0017	0.00539137	0.0045	0.0004	0.0007	0.0001	0.0009	0.0022	0.0067	0.0222	0.0038809	600	154602	rs146937376	0.0031	0.0031	0.0025	0.0037	0.0204	0.0030	0.0030	0.0196	0.0193	0.0004	0.0010	0.0091	0	0.0010	0.0026	0.0020	0.0036	0.0204	0.0021	0.0021	0.0019	0.0022	0.0157	0.0019	0.0018	0.0129	0.0118	0.0007	0	0.0011	0.0063	0.0002	0.0012	0.0034	0.0023	0.0014	0.0157	0.407	0.11478	T	0.398	0.16037	T	0.0	0.02946	B	0.0	0.01387	B	0.129712	0.02798	N	2.198090	1	0.08975	N	-1.11	0.00959	N	1.97	0.22067	T	0.12	0.06138	N	0.035	0.02559	-1.0169	0.24722	T	0.034	0.14726	T	10	0.0034039617	0.00060	T	.	.	.	0.022	0.04323	.	.	0.202086224978	0.19791	0.32415622875043315	0.32328	0.15498725264	0.17506	0.286808758974	0.08459	T	0.002013	0.37112	T	-0.691046	0.00041	T	-0.74916	0.03518	T	0.000969181622218029	0.00009	T	0.545245	0.18642	T	0.040499426	0.05791	0.033491585	0.02253	0.040499426	0.05790	0.033491585	0.02252	-2.603	0.06526	T	.	.	0.044	0.00045	B	.;.;.;.;.	.;.;.;.;.	0.513562	0.08826	5.602	0.62565808386946475	0.06995	0.00829	0.03338	N	AEFDGBHCI	0.027466	0.02249	N	-0.988102682698959	0.08857	0.4169128	-0.9732708604488	0.10388	0.5228717	0.999999890634199	0.74766	0.67177	0.52595	0	0.643519	0.57511	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	4.85	2.87	0.32523	-0.048000	0.11898	-0.006000	0.13130	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.0:0.5806:0.1889:0.2306	4.211	0.09968	61	0.97388	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005589	0.000000	0.002725	0.000000	0.000000	0.008621	0.012346	0.015385	0.07143	55.44	35	chr11	66369490	.	T	C	55.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.385;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.24;ReadPosRankSum=0.126;SOR=0.693	GT:AD:DP:GQ:PL	0/1:3,3:6:66:66,0,73	6	0	1	0
chr11	67219331	67219331	-	G	exonic	KDM2A	.	frameshift insertion	KDM2A:NM_012308:exon10:c.886dupG:p.N298Qfs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	34.4	33	chr11	67219331	.	T	TG	34.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=217;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.73;ReadPosRankSum=0.842;SOR=0.693	GT:AD:DP:GQ:PL	0/1:4,2:6:45:45,0,109	6	0	1	0
chr11	74835878	74835878	G	T	exonic	RNF169	.	nonsynonymous SNV	RNF169:NM_001098638:exon6:c.G1275T:p.E425D	.	435	1078	9	0	0	9	0.00415704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.320	.	.	0.00219649	0.0013	0	0.0002	0	0	7.496e-05	0.0011	0.0090	0.0011319	175	154602	rs369569812	0.0007	0.0007	0.0004	0.0009	0.0086	0.0006	0.0006	0.0081	0.0079	0	6.708e-05	0	2.519e-05	0	0.0023	0.0001	0.0008	0.0086	0.0004	0.0004	0.0002	0.0005	0.0091	0.0003	0.0003	0.0070	0.0062	4.813e-05	0	0.0001	0	0	0	0	0.0001	0	0.0091	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.999978	0.53665	D	0.895	0.22405	L	0.43	0.56772	T	-1.14	0.29323	N	0.708	0.71143	-0.3870	0.72436	T	0.320	0.68960	T	10	0.009866834	0.00221	T	.	.	.	0.320	0.64215	0.448	0.50793	0.686092073669	0.68341	0.2554635684115935	0.25460	0.747522422216	0.63598	0.729810297489	0.71478	T	0.116785	0.43639	T	-0.318459	0.07025	T	-0.223682	0.52382	T	0.122595287670529	0.14681	T	0.90061	0.65471	D	0.4006415	0.60777	0.3159087	0.57575	0.4006415	0.60777	0.3159087	0.57574	-7.437	0.57165	T	.	.	0.841	0.79302	P	.	.	4.288453	0.65387	24.8	0.9985157809661398	0.93102	0.97739	0.76783	D	AEFGBI	0.555027	0.56563	D	0.52610219863704	0.68639	5.244875	0.491239616784563	0.67407	5.080047	0.997995646202725	0.36288	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.99	4.12	0.47504	4.184000	0.58121	3.508000	0.38821	-0.678000	0.04252	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.1523:0.0:0.8477:0.0	11.187	0.47887	639	0.64210	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.07143	64.44	34	chr11	74835878	.	G	T	64.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.282;DP=233;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=-1.645;SOR=0.223	GT:AD:DP:GQ:PL	0/1:2,3:5:68:75,0,68	6	0	1	0
chr11	75428498	75428498	C	T	exonic	KLHL35	.	nonsynonymous SNV	KLHL35:NM_001039548:exon2:c.G1010A:p.G337D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.0301947514617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	0.12148	T	0.272	0.22761	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999989	0.54805	D	.	.	.	-0.52	0.70717	T	-1.05	0.27463	N	0.263	0.35301	-0.6747	0.61616	T	0.285	0.65724	T	10	0.2189256	0.38547	T	0.030195	0.52558	D	0.189	0.46613	.	.	0.453119318887	0.44934	0.698202629369711	0.69761	0.0940562146519	0.10619	0.468813896179	0.34517	T	0.017787	0.14454	T	-0.0784177	0.39972	T	-0.350418	0.39156	T	0.847431480884552	0.49946	D	0.787321	0.42620	T	0.25565657	0.48600	0.23576036	0.48829	0.25565657	0.48600	0.23576036	0.48828	-6.392	0.49448	T	.	.	0.274	0.51669	B	.;.	.;.	3.312289	0.45517	22.1	0.99635289034928753	0.76326	0.71940	0.35232	D	ALL	0.240040	0.36190	N	0.0570175184555183	0.44466	2.720117	0.0208965778065995	0.40687	2.432161	0.999999999967781	0.74766	0.764865	0.99124	0	0.606814	0.50340	0	0.731555	0.93304	0	0.618803	0.45993	0	.	.	5.11	4.2	0.48814	1.401000	0.34198	4.642000	0.44159	0.599000	0.40250	0.562000	0.27441	1.000000	0.68203	0.868000	0.41282	0.0:0.9144:0.0:0.0856	11.793	0.51354	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	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr11	75428498	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr11	75441194	75441194	A	C	exonic	GDPD5	.	nonsynonymous SNV	GDPD5:NM_001351167:exon10:c.T1028G:p.L343R,GDPD5:NM_030792:exon14:c.T1442G:p.L481R,GDPD5:NM_001351168:exon15:c.T707G:p.L236R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.672	0.178267824743	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000456	0.44317	D	0.153558	0.999998	0.81001	D	2.87	0.83286	M	0.59	0.53943	T	-5.93	0.89029	D	0.966	0.98368	-0.2479	0.76416	T	0.355	0.71812	T	10	0.9424009	0.93565	D	0.178268	0.85345	D	0.672	0.87868	0.662	0.79996	0.816523224248	0.81480	0.9470904324278336	0.94692	1.23720955238	0.81495	0.617373645306	0.55357	T	0.597006	0.87028	D	0.316007	0.84187	D	0.216146	0.83980	D	0.99882560968399	0.95280	D	0.875712	0.58780	D	0.89838594	0.91239	0.8101276	0.88908	0.89838594	0.91240	0.8101276	0.88908	-11.466	0.82425	D	.	.	0.891	0.82660	P	.;.;.;.;.;.	.;.;.;.;.;.	5.048550	0.84074	28.2	0.99793564621305764	0.87928	0.92634	0.56174	D	AEFBCI	0.905734	0.85763	D	0.809248131552852	0.86682	8.96415	0.74245719617881	0.85593	8.626946	0.999999999425349	0.74766	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.84	4.84	0.62125	7.020000	0.76158	11.128000	0.86723	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.819000	0.38590	1.0:0.0:0.0:0.0	12.722	0.56517	723	0.55174	.;.;Glycerophosphodiester phosphodiesterase domain;Glycerophosphodiester phosphodiesterase domain;.;Glycerophosphodiester phosphodiesterase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	64.44	33	chr11	75441194	.	A	C	64.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=-0.126;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:75:0|1:75441194_A_C:75,0,120:75441194	6	0	1	0
chr11	82933517	82933518	TT	-	exonic	DDIAS	.	frameshift deletion	DDIAS:NM_001363481:exon5:c.2179_2180del:p.F727Hfs*14,DDIAS:NM_145018:exon6:c.2179_2180del:p.F727Hfs*14	.	423	1090	8	1	0	10	0.00456621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1330116960	1.71e-05	1.71e-05	1.497e-05	1.925e-05	0.0012	1.174e-05	9.92e-06	0.0006	0.0004	0	2.236e-05	3.827e-05	0	0	0.0012	1.259e-05	3.312e-05	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0032	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	268.4	33	chr11	82933516	.	CTT	C	268.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.21;DP=272;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=22.37;ReadPosRankSum=0.078;SOR=0.631	GT:AD:DP:GQ:PL	0/1:5,7:12:99:279,0,189	6	0	1	0
chr11	93727041	93727041	G	C	exonic	CEP295	.	nonsynonymous SNV	CEP295:NM_033395:exon24:c.G6565C:p.D2189H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.0627290268959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.65419	D	0.007	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	0.961269	0.38226	D	.	.	.	2.7	0.12162	T	-2.89	0.91741	D	0.267	0.30233	-1.1284	0.01860	T	0.074	0.29802	T	9	0.19471207	0.35294	T	0.062729	0.68745	D	0.130	0.35528	0.147	0.05039	0.0551355673512	0.04727	0.27316930415486157	0.27229	0.49495215039	0.48045	0.372965693474	0.21257	T	0.075327	0.41984	T	-0.000609525	0.51569	T	-0.238652	0.50931	T	0.934062898159027	0.60127	D	0.920608	0.71304	D	0.2534646	0.48369	0.26996863	0.52882	0.2534646	0.48369	0.26996863	0.52881	-4.275	0.27825	T	.	.	0.579	0.67990	P	.;.;.;.	.;.;.;.	3.559212	0.50069	22.9	0.9946669895051059	0.66102	0.52695	0.29193	D	AEFBCI	0.234058	0.35688	N	0.334906410481555	0.57948	3.964424	0.28076376067752	0.54418	3.606756	0.999999987646141	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.696353	0.63694	0	0.636168	0.56350	0	.	.	5.61	5.61	0.85347	1.657000	0.36981	3.395000	0.38093	0.618000	0.50648	0.111000	0.23011	1.000000	0.68203	0.885000	0.42453	0.0:0.0:1.0:0.0	15.131	0.72200	836	0.38045	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	151.44	33	chr11	93727041	.	G	C	151.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.282;DP=201;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.83;ReadPosRankSum=0.319;SOR=0.941	GT:AD:DP:GQ:PL	0/1:2,7:9:22:162,0,22	6	0	1	0
chr11	94998741	94998741	C	G	exonic	KDM4D	.	nonsynonymous SNV	KDM4D:NM_018039:exon3:c.C1369G:p.P457A	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00304413607917	0.0038	0.000998403	0.0033	0.0013	0.0005	0	0.0036	0.0046	0.0045	0.0032	0.0034282	530	154602	rs144086807	0.0046	0.0046	0.0046	0.0046	0.0053	0.0045	0.0045	0.0052	0.0051	0.0006	0.0013	0.0004	2.52e-05	0.0038	0.0017	0.0053	0.0036	0.0034	0.0029	0.0029	0.0032	0.0025	0.0050	0.0027	0.0026	0.0040	0.0039	0.0010	0	0.0022	0	0	0.0028	0	0.0044	0.0028	0.0050	0.076	0.34269	T	0.086	0.40909	T	0.91	0.50240	P	0.265	0.39681	B	0.003127	0.35389	U	0.179179	1	0.08975	N	2.14	0.59869	M	1.6	0.28604	T	-3.26	0.65397	D	0.108	0.11197	-1.0513	0.14036	T	0.028	0.11795	T	10	0.0063998103	0.00145	T	0.003044	0.06547	T	0.038	0.09825	.	.	0.284150004643	0.28039	0.26446141084854	0.26359	0.862885287998	0.69039	0.390718340874	0.23771	T	0.189515	0.54376	T	-0.607276	0.00132	T	-0.641361	0.09570	T	0.0302647934102925	0.02030	T	0.39496	0.09912	T	0.07316669	0.16330	0.10498403	0.25228	0.07316669	0.16330	0.10498403	0.25227	-5.978	0.46096	T	.	.	0.064	0.01986	B	.;.;.	.;.;.	1.193731	0.15853	12.15	0.95283455619903568	0.26580	0.07903	0.13891	N	AEFDGBI	0.024469	0.01520	N	-0.610203648669138	0.18637	0.9691789	-0.75671581148419	0.15557	0.8188044	0.014838044841766	0.12644	0.490419	0.18000	1	0.588066	0.40923	0	0.667716	0.60424	0	0.567892	0.33627	0	.	.	3.52	1.58	0.22557	0.726000	0.25653	-0.056000	0.12484	0.524000	0.24156	0.016000	0.19238	0.000000	0.08366	0.004000	0.06068	0.0:0.6512:0.2251:0.1236	4.706	0.12230	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	0.001008	0.005102	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	103.44	33	chr11	94998741	.	C	G	103.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.242;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=-0.14;SOR=0.368	GT:AD:DP:GQ:PL	0/1:4,5:9:99:114,0,108	6	0	1	0
chr11	103307763	103307763	C	A	exonic	DYNC2H1	.	nonsynonymous SNV	DYNC2H1:NM_001377:exon78:c.C11425A:p.L3809I,DYNC2H1:NM_001080463:exon79:c.C11446A:p.L3816I	Short-rib thoracic dysplasia 3 with or without polydactyly, Autosomal recessive, Digenic recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.0585458828103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.881e-07	5.472e-06	1.368e-06	0	1.183e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.183e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.021	0.58089	D	0.999	0.77913	D	0.971	0.72444	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.42	0.70002	M	2.32	0.16640	T	-1.69	0.40274	N	0.703	0.70702	-1.0474	0.15130	T	0.116	0.41031	T	10	0.6748878	0.70932	D	0.058546	0.67355	D	0.207	0.49555	0.786	0.90919	0.660486739397	0.65764	0.49093012128177593	0.49013	0.252812971659	0.27842	0.579860329628	0.50066	T	0.111991	0.42791	T	-0.00821936	0.50515	T	-0.249583	0.49859	T	0.960235178470612	0.65749	D	0.911709	0.68653	D	0.70368195	0.78259	0.5322124	0.72970	0.70368195	0.78260	0.5322124	0.72971	-4.735	0.33824	T	0.594408558605154	0.66126	0.295	0.56599	B	.;.;.;.	.;.;.;.	4.226068	0.63962	24.6	0.99560097179666873	0.71707	0.98593	0.84474	D	AEFBI	0.651445	0.62519	D	0.717106522129192	0.80751	7.364769	0.696970593510241	0.82148	7.695999	0.707025339280287	0.22772	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.421255	0.06892	1	.	.	5.53	5.53	0.82530	4.541000	0.60381	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9264:0.0:0.0736	13.711	0.62150	649	0.63102	Dynein heavy chain domain;Dynein heavy chain domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr11	103307763	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=197;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr11	114530269	114530269	G	C	exonic	NXPE1	.	nonsynonymous SNV	NXPE1:NM_152315:exon3:c.C313G:p.P105A,NXPE1:NM_001367953:exon5:c.C739G:p.P247A	.	431	1028	61	2	0	65	0.0306459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300	.	0.0036	0.00559105	0.0069	0.0011	0.0036	0.0002	0.0003	0.0060	0.0165	0.0222	0.0063065	975	154602	rs45609739	0.0056	0.0056	0.0050	0.0063	0.0227	0.0055	0.0055	0.0207	0.0204	0.0010	0.0036	0.0022	5.038e-05	0.0006	0.0227	0.0050	0.0068	0.0215	0.0042	0.0042	0.0039	0.0045	0.0189	0.0039	0.0038	0.0157	0.0146	0.0010	0.0340	0.0051	0.0020	0	0.0005	0.0204	0.0053	0.0085	0.0189	0.011	0.57480	D	0.037	0.56640	D	1.0	0.90584	D	0.998	0.88582	D	0.000032	0.55875	D	0.000000	1	0.08975	N	3.145	0.88303	M	1.81	0.64818	T	-5.65	0.93697	D	0.587	0.63035	-0.3800	0.72651	T	0.419	0.76503	T	10	0.005137056	0.00112	T	.	.	.	0.300	0.62068	.	.	0.389439708392	0.38560	0.4717352409557836	0.47092	0.16594407476	0.18725	0.33301743865	0.15389	T	0.236518	0.60401	T	-0.316631	0.07178	T	-0.210675	0.53631	T	0.0314134618907065	0.02212	T	0.90111	0.65631	D	0.39157385	0.60144	0.577302	0.75507	0.39157385	0.60144	0.577302	0.75508	-9.493	0.70815	D	.	.	0.423	0.61041	A	.;.;.;.	.;.;.;.	4.447330	0.69097	25.3	0.99347243344324987	0.60412	0.86495	0.45787	D	AEFBI	0.408249	0.48000	N	0.630376840640656	0.75105	6.247449	0.475806938901561	0.66391	4.945904	0.0134415062130334	0.12466	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.29	4.29	0.50359	3.630000	0.54014	3.198000	0.36737	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	15.055	0.71574	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	0.026183	0.005051	0.025815	0.008772	0.100000	0.017241	0.039634	0.053030	0.2143	1728.13	33	chr11	114530269	.	G	C	1728.13	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.908;DP=290;ExcessHet=0;FS=0.701;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=1.36;SOR=0.569	GT:AD:DP:GQ:PL	1/1:0,4:4:12:133,12,0	5	1	1	0
chr11	117521351	117521351	G	A	exonic	DSCAML1	.	nonsynonymous SNV	DSCAML1:NM_001367904:exon6:c.C992T:p.T331M,DSCAML1:NM_001367905:exon6:c.C584T:p.T195M,DSCAML1:NM_020693:exon6:c.C992T:p.T331M	.	413	1108	1	0	0	1	0.00045106	.	.	.	1979323	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.444	0.13505435265	.	0.000199681	2.489e-05	0	8.667e-05	0	0	0	0	0.0001	2.59e-05	4	154602	rs575001357	1.779e-05	1.779e-05	1.906e-05	1.65e-05	0.0002	1.237e-05	1.051e-05	0.0001	0.0001	0	0.0002	0	5.038e-05	0	0.0002	6.295e-06	1.656e-05	4.637e-05	2.625e-05	2.624e-05	2.569e-05	2.684e-05	0.0004	8.13e-06	5.14e-06	7.285e-05	3.027e-05	0	0	6.532e-05	0	0	0	0	0	0.0005	0.0004	0.119	0.40832	T	0.047	0.49663	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-0.4	0.69287	T	-2.24	0.50175	N	0.717	0.71942	0.083	0.83853	D	0.513	0.81743	D	9	0.5451764	0.63943	D	0.135054	0.81750	D	0.444	0.74657	.	.	0.800742701777	0.79888	0.6113861446812974	0.61070	1.14625373596	0.79082	0.70240855217	0.67492	T	.	.	.	-0.0423197	0.45603	T	0.00315566	0.70540	D	0.352261543273926	0.27108	T	0.961604	0.85550	D	.	.	.	.	.	.	.	.	-7.195	0.55445	T	.	.	0.252	0.48644	B	.;.	.;.	5.417545	0.90655	31	0.99850583047632535	0.93013	0.99119	0.91505	D	AEFDBI	0.938397	0.93753	D	0.797128529342073	0.85928	8.724418	0.732013852820478	0.84808	8.396778	0.999999999952134	0.74766	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.5	4.5	0.54382	6.593000	0.73983	11.790000	0.96346	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	17.384	0.87302	892	0.26670	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1429	247.21	35	chr11	117521351	.	G	A	247.21	.	AC=2;AF=0.143;AN=14;DP=229;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=27.47;SOR=0.892	GT:AD:DP:GQ:PL	1/1:0,9:9:27:268,27,0	6	1	0	0
chr11	118902577	118902577	C	A	exonic	BCL9L	.	nonsynonymous SNV	BCL9L:NM_182557:exon6:c.G1166T:p.G389V,BCL9L:NM_001378214:exon7:c.G1055T:p.G352V,BCL9L:NM_001378213:exon8:c.G1166T:p.G389V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.169361796831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.21634	T	0.012	0.63918	D	1.0	0.90584	D	0.982	0.75477	D	0.000629	0.42799	D	0.000000	1	0.81001	D	0.805	0.20218	L	-0.18	0.65747	T	-2.3	0.51157	N	0.646	0.65758	-0.5072	0.68388	T	0.295	0.66640	T	10	0.4983382	0.61399	T	0.169362	0.84721	D	0.254	0.56428	0.227	0.15257	0.494737054661	0.49108	0.6298170080152654	0.62915	0.327434873958	0.34880	0.788262069225	0.80179	T	0.52136	0.83268	D	0.0861514	0.62753	D	-0.114026	0.62289	T	0.949160039424896	0.63051	D	0.785621	0.42343	T	0.40967295	0.61396	0.24970049	0.50547	0.40967295	0.61397	0.24970049	0.50546	-4.911	0.35858	T	.	.	0.091	0.18247	B	.;.	.;.	3.096022	0.41708	21.4	0.99432820325638271	0.64374	0.95566	0.65232	D	AEFDBCI	0.512469	0.54067	D	0.256438328288435	0.53957	3.56271	0.221026736432739	0.51017	3.287856	0.999999999999982	0.74766	0.695654	0.57023	0	0.653731	0.59785	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.07	4.07	0.46726	5.699000	0.67967	3.219000	0.36843	0.460000	0.21577	1.000000	0.71638	1.000000	0.68203	0.622000	0.31948	0.0:1.0:0.0:0.0	16.439	0.83734	336	0.86165	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr11	118902577	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	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	0.07143	45.44	39	chr11	123606675	.	A	G	45.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.282;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.57;ReadPosRankSum=0.431;SOR=0.223	GT:AD:DP:GQ:PL	0/1:4,2:6:56:56,0,143	6	0	1	0
chr11	124878634	124878634	C	T	exonic	ROBO3	.	nonsynonymous SNV	ROBO3:NM_001370361:exon5:c.C518T:p.T173M,ROBO3:NM_001370366:exon5:c.C323T:p.T108M,ROBO3:NM_001370358:exon6:c.C518T:p.T173M,ROBO3:NM_001370359:exon6:c.C518T:p.T173M,ROBO3:NM_001370364:exon6:c.C323T:p.T108M,ROBO3:NM_001370356:exon7:c.C518T:p.T173M,ROBO3:NM_001370357:exon7:c.C518T:p.T173M,ROBO3:NM_022370:exon23:c.C3371T:p.T1124M	Gaze palsy, horizontal, with progressive scoliosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2390976	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.031	0.0185969286431	.	.	3.639e-05	0	9.705e-05	0.0001	0	1.634e-05	0	6.614e-05	2.59e-05	4	154602	rs752560301	1.78e-05	1.779e-05	1.771e-05	1.789e-05	0.0001	1.238e-05	1.052e-05	4.369e-05	2.774e-05	2.989e-05	0.0001	0	2.52e-05	0	0	9.896e-06	3.314e-05	6.97e-05	3.286e-05	3.283e-05	3.854e-05	2.69e-05	4.826e-05	1.261e-05	7.98e-06	1.171e-05	6.25e-06	4.826e-05	0	0	0	0	0	0	4.409e-05	0	0	0.442	0.09346	T	0.18	0.29442	T	0.052	0.22494	B	0.007	0.12992	B	0.049390	0.01998	N	2.529250	1	0.19238	N	0.145	0.08828	N	0.13	0.60973	T	1.17	0.01121	N	0.227	0.25499	-1.0458	0.15592	T	0.071	0.28969	T	10	0.050749153	0.04854	T	0.018597	0.40717	T	0.031	0.07369	0.24	0.17218	0.436239592564	0.43243	0.061101900890250554	0.06050	0.147818603967	0.16675	0.249918758869	0.03759	T	0.029711	0.21228	T	-0.328553	0.06221	T	-0.512077	0.21101	T	0.0129890150222215	0.00225	T	0.515049	0.16594	T	0.013240479	0.00053	0.022885373	0.00307	0.013240479	0.00053	0.022885373	0.00306	-3.366	0.14602	T	.	.	0.234	0.50880	B	.;.	.;.	0.273784	0.06514	2.993	0.22766371063056065	0.00931	0.25434	0.22697	N	AEFDBCI	0.059352	0.11204	N	-1.12205456769005	0.06252	0.2873115	-1.05074997652257	0.08692	0.4285993	0.999947506372907	0.47345	0.634777	0.41761	0	0.610034	0.51514	0	0.723109	0.80598	0	0.645665	0.59343	0	.	.	4.91	-0.953	0.09834	0.836000	0.27198	.	.	-0.171000	0.11205	0.948000	0.32982	0.000000	0.08366	0.057000	0.15750	0.3047:0.2601:0.0:0.4352	3.682	0.07847	712	0.56465	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	118.55	33	chr11	124878634	.	C	T	118.55	.	AC=2;AF=0.143;AN=14;DP=220;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=23.71;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,5:5:15:139,15,0	6	1	0	0
chr11	126292488	126292488	C	T	exonic	TIRAP	.	stopgain	TIRAP:NM_001318776:exon4:c.C79T:p.Q27X,TIRAP:NM_001318777:exon4:c.C79T:p.Q27X,TIRAP:NM_001039661:exon5:c.C79T:p.Q27X,TIRAP:NM_148910:exon5:c.C79T:p.Q27X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	.	0.0002	0	0.0002	0	0	0.0004	0	0	0.0001811	28	154602	rs202146623	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	2.987e-05	0.0003	0.0003	0	1.873e-05	0.0003	0.0001	0.0001	0	0.0002	0.0002	0.0002	0.0003	0.0012	0.0001	0.0001	0.0008	0.0007	4.837e-05	0	0.0012	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.005218	0.32996	N	0.212694	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.866	0.86297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36676	0.87770	D	0.61701	0.97470	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.	.;High;.	8.357252	0.97468	37	0.99790957678646652	0.87661	0.96112	0.67588	D	AEFDBI	0.121265	0.23584	N	0.875608795935587	0.90516	10.43876	0.701172503700621	0.82466	7.774	0.99977679991647	0.42865	0.660377	0.49826	0	0.71359	0.82159	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	5.27	5.27	0.73797	1.654000	0.36950	3.922000	0.40477	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.563000	0.30483	0.1436:0.8564:0.0:0.0	14.931	0.70561	807	0.43470	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	175.44	35	chr11	126292488	.	C	T	175.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.133;DP=243;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.95;ReadPosRankSum=0;SOR=0.941	GT:AD:DP:GQ:PL	0/1:4,7:11:99:186,0,99	6	0	1	0
chr12	1490094	1490094	T	-	exonic	ERC1	.	frameshift deletion	ERC1:NM_178039:exon18:c.3131delT:p.Q1045Rfs*4,ERC1:NM_178040:exon19:c.3215delT:p.Q1073Rfs*4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.567e-06	1.285e-05	0	6.543e-05	0	0	.	.	0	0	6.543e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	43.4	34	chr12	1490093	.	CT	C	43.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.366;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.2;ReadPosRankSum=-1.068;SOR=0.446	GT:AD:DP:GQ:PL	0/1:5,2:7:54:54,0,166	6	0	1	0
chr12	2688580	2688580	G	A	exonic	CACNA1C	.	nonsynonymous SNV	CACNA1C:NM_001129837:exon45:c.G5942A:p.R1981Q,CACNA1C:NM_001129838:exon45:c.G5942A:p.R1981Q,CACNA1C:NM_001129839:exon45:c.G5936A:p.R1979Q,CACNA1C:NM_001129846:exon45:c.G5885A:p.R1962Q,CACNA1C:NM_000719:exon46:c.G5918A:p.R1973Q,CACNA1C:NM_001129829:exon46:c.G6041A:p.R2014Q,CACNA1C:NM_001129833:exon46:c.G5975A:p.R1992Q,CACNA1C:NM_001129834:exon46:c.G5975A:p.R1992Q,CACNA1C:NM_001129835:exon46:c.G5975A:p.R1992Q,CACNA1C:NM_001129836:exon46:c.G5969A:p.R1990Q,CACNA1C:NM_001129840:exon46:c.G5918A:p.R1973Q,CACNA1C:NM_001129841:exon46:c.G5918A:p.R1973Q,CACNA1C:NM_001129842:exon46:c.G5918A:p.R1973Q,CACNA1C:NM_001129843:exon46:c.G5918A:p.R1973Q,CACNA1C:NM_001129844:exon46:c.G5909A:p.R1970Q,CACNA1C:NM_001167623:exon46:c.G5918A:p.R1973Q,CACNA1C:NM_001167625:exon46:c.G6098A:p.R2033Q,CACNA1C:NM_001129830:exon47:c.G6023A:p.R2008Q,CACNA1C:NM_001129831:exon47:c.G6002A:p.R2001Q,CACNA1C:NM_001129832:exon47:c.G5978A:p.R1993Q,CACNA1C:NM_001167624:exon47:c.G6023A:p.R2008Q,CACNA1C:NM_001129827:exon48:c.G6062A:p.R2021Q,CACNA1C:NM_199460:exon49:c.G6167A:p.R2056Q	Brugada syndrome 3;Timothy syndrome, Autosomal dominant	0	1472	48	2	0	52	0.0173565	.	.	.	99326	Long_QT_syndrome|not_provided|Short_QT_syndrome|CACNA1C-related_disorder|Cardiovascular_phenotype|not_specified	MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:C3661900|MONDO:MONDO:0000453,MedGen:C2348199,OMIM:PS609620,Orphanet:51083|.|MedGen:CN230736|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.183	.	0.0017	0.00319489	0.0036	0.0002	0.0013	0.0001	0.0003	0.0021	0.0045	0.0162	0.0030918	478	154602	rs112414325	0.0023	0.0023	0.0019	0.0028	0.0156	0.0023	0.0022	0.0149	0.0146	0.0002	0.0014	0.0127	0	5.623e-05	0.0080	0.0013	0.0036	0.0156	0.0020	0.0020	0.0016	0.0023	0.0180	0.0018	0.0017	0.0150	0.0138	0.0004	0	0.0018	0.0135	0.0002	0	0.0102	0.0016	0.0043	0.0180	0.484	0.09776	T	0.586	0.11551	T	0.032	0.58535	B	0.005	0.52168	B	0.433660	0.12716	N	0.733016	0.999909	0.52935	D	.	.	.	0.53	0.55090	T	-0.51	0.18459	N	0.317	0.36674	-0.9378	0.42963	T	0.158	0.49060	T	10	0.006121576	0.00138	T	.	.	.	0.183	0.45592	.	.	0.774745351775	0.77267	0.42943405207208213	0.42860	0.220456262239	0.24588	0.339064538479	0.16298	T	0.005257	0.06762	T	-0.393694	0.02546	T	-0.325967	0.41916	T	0.0125000085483832	0.00207	T	.	.	.	.	.	.	.	.	.	.	.	-4.262	0.27641	T	.	.	0.1	0.20469	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.453092	0.48089	22.6	0.82543286476877942	0.14247	0.95520	0.65048	D	AEFDBI	0.740151	0.68449	D	-0.310102523607895	0.28764	1.589257	-0.162370008803943	0.32934	1.878767	0.999316768921301	0.39113	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.97	4.97	0.65419	2.576000	0.45698	1.641000	0.27792	0.586000	0.30580	1.000000	0.71638	0.947000	0.28924	0.652000	0.32748	0.0797:0.0:0.9203:0.0	12.655	0.56145	861	0.33516	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.000000	0.002717	0.000000	0.000000	0.025862	0.018293	0.007576	0.1429	1678.24	141	chr12	2688580	.	G	A	1678.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.618;DP=330;ExcessHet=0.3476;FS=1.258;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=1.71;SOR=0.803	GT:AD:DP:GQ:PL	0/1:7,4:11:66:66,0,150	5	0	2	0
chr12	6555836	6555836	G	A	exonic	IFFO1	.	nonsynonymous SNV	IFFO1:NM_001039670:exon1:c.C194T:p.A65V,IFFO1:NM_001193457:exon1:c.C194T:p.A65V,IFFO1:NM_001330324:exon1:c.C194T:p.A65V,IFFO1:NM_001330325:exon1:c.C194T:p.A65V,IFFO1:NM_080730:exon1:c.C194T:p.A65V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.463902733708	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1382148116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.586e-06	6.569e-06	1.288e-05	0	1.473e-05	0	0	.	.	0	0	0	0	0	0	0	1.473e-05	0	0	0.002	0.72154	D	0.0	0.92824	D	0.999	0.77913	D	0.996	0.84481	D	0.132764	0.02822	N	1.921010	1	0.81001	D	2.08	0.57402	M	0.71	0.51228	T	-1.73	0.41046	N	0.612	0.64648	-0.8356	0.52937	T	0.319	0.68874	T	10	0.66621745	0.70442	D	0.463903	0.94562	D	0.242	0.54781	0.22	0.14224	0.751335196791	0.74908	0.7495418996530608	0.74901	1.47234032679	0.86559	0.956198573112	0.99862	D	0.111901	0.42775	T	0.0981755	0.64096	D	-0.0967541	0.63648	T	0.974476218223572	0.70524	D	0.954005	0.82493	D	0.29800943	0.52725	0.42012402	0.65985	0.29800943	0.52725	0.42012402	0.65985	-7.898	0.60797	D	.	.	0.920	0.85593	P	.;.;.;.	.;.;.;.	5.673200	0.92950	33	0.9992904220942439	0.99279	0.97851	0.77605	D	AEFDGBCI	0.934707	0.92848	D	0.715919681592377	0.80676	7.347373	0.679102664921332	0.80797	7.378989	1.0	0.98316	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	4.33	4.33	0.51083	6.897000	0.75490	11.376000	0.92617	0.588000	0.31329	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	15.744	0.77692	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	.	.	.	.	.	.	.	.	0.1429	33.22	21	chr12	6555836	.	G	A	33.22	.	AC=2;AF=0.143;AN=14;DP=164;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr12	11267207	11267254	GTCCCTGGGGAGGTCTGTGTGGTCTGCCCCCTTGAGGAGGTGGAGGTG	-	exonic	PRB3	.	nonframeshift deletion	PRB3:NM_006249:exon4:c.869_916del:p.P290_G305del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	64.4	36	chr12	11267206	.	TGTCCCTGGGGAGGTCTGTGTGGTCTGCCCCCTTGAGGAGGTGGAGGTG	T	64.4	.	AC=1;AF=0.071;AN=14;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.88;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,2:5:75:75,0,120	6	0	1	0
chr12	12822731	12822731	A	G	exonic	DDX47	.	nonsynonymous SNV	DDX47:NM_016355:exon6:c.A632G:p.K211R,DDX47:NM_201224:exon6:c.A632G:p.K211R	.	.	.	.	.	.	.	.	1.0000	0.99	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.0141385498942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	2.724e-06	1.376e-06	2.7e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.7e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.005	0.72224	D	0.967	0.56408	D	0.86	0.61233	P	0.000000	0.84330	D	0.050272	1	0.81001	D	1.035	0.25616	L	2.43	0.15261	T	-2.86	0.60665	D	0.485	0.58798	-1.0840	0.06591	T	0.057	0.23980	T	10	0.30713907	0.48219	T	0.014139	0.34055	T	0.191	0.46948	0.387	0.40788	0.330069100803	0.32608	0.5508679290867742	0.55012	0.185147739358	0.20815	0.815721750259	0.84371	D	0.187773	0.54148	T	-0.122207	0.32765	T	-0.413318	0.31843	T	0.947580516338348	0.62713	D	0.973003	0.91204	D	0.8449617	0.86965	0.81707513	0.89351	0.8449617	0.86967	0.81707513	0.89352	-11.431	0.84147	D	.	.	0.265	0.51323	B	.;.;.	.;.;.	6.159045	0.94693	34	0.99794443926247689	0.88017	0.99876	0.99923	D	AEFBI	0.944088	0.95075	D	0.348630992000661	0.58668	4.040401	0.500558653915793	0.68030	5.163934	0.999999999999513	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	5.86	5.86	0.93936	9.001000	0.93107	11.083000	0.85785	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.254	0.82326	828	0.39726	.;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	36	chr12	12822731	.	A	G	33.22	.	AC=2;AF=0.143;AN=14;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr12	40480993	40481003	TCTGTTGTGGG	-	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1162942374	0	5.165e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0026	0.0075	0.0029	0.0022	0.0032	0.0023	0.0023	0.0024	0.0023	0.0021	0.0044	0.0032	0.0030	0.0024	0.0017	0.0034	0.0028	0.0025	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	64.4	238	chr12	40480992	.	ATCTGTTGTGGG	A	64.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.1;DP=1558;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.22;ReadPosRankSum=-1.408;SOR=0.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,3:20:75:0|1:40480950_A_G:75,0,705:40480950	6	0	1	0
chr12	40488957	40488957	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	571	930	19	0	2	21	0.0101118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1177265796	0	2.268e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0008	0.0024	0.0007	0.0008	0.0023	0.0006	0.0006	0.0019	0.0018	0.0023	0	0.0007	0.0010	0	0	0	1.705e-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	.	.	.	.	.	.	.	.	0.07143	43.44	291	chr12	40488957	.	C	T	43.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.828;DP=3099;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=58.37;MQRankSum=-4.739;QD=1.4;ReadPosRankSum=-1.936;SOR=0.507	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,4:31:54:0|1:40488954_T_C:54,0,1056:40488954	6	0	1	0
chr12	48046999	48046999	C	A	exonic	SENP1	.	nonsynonymous SNV	SENP1:NM_001267594:exon16:c.G1755T:p.Q585H,SENP1:NM_001267595:exon16:c.G1755T:p.Q585H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0272821273373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	0.38185	T	0.038	0.51421	D	0.77	0.48784	P	0.427	0.45317	B	0.228784	0.15967	N	0.627300	0.884337	0.81001	D	0.79	0.19579	N	1.5	0.42502	T	-1.41	0.38540	N	0.205	0.24260	-1.0685	0.09746	T	0.078	0.31103	T	10	0.25147644	0.42488	T	0.027282	0.50107	D	0.047	0.12962	0.462	0.53079	0.58681671947	0.58357	0.26826707753557866	0.26739	.	.	0.41452562809	0.27083	T	0.143524	0.47967	T	-0.177311	0.24137	T	-0.492471	0.23132	T	0.692241907119751	0.40352	D	0.940406	0.77718	D	0.18298271	0.39543	0.1241434	0.29927	0.18298271	0.39543	0.1241434	0.29926	-8.657	0.65464	D	.	.	0.129	0.27583	B	.;.;.	.;.;.	3.311345	0.45497	22.1	0.98298551573955684	0.40020	0.79955	0.39725	D	AEFBI	0.098272	0.19805	N	0.00127744023002593	0.41913	2.515673	0.0399665663659804	0.41589	2.50117	0.0104394888677467	0.12024	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.95	3.0	0.33773	1.134000	0.31055	1.117000	0.24210	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.1358:0.6555:0.132:0.0767	6.015	0.18825	543	0.72751	Ulp1 protease family, C-terminal catalytic domain|Ulp1 protease family, C-terminal catalytic domain;.;Ulp1 protease family, C-terminal catalytic domain|Ulp1 protease family, C-terminal 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	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr12	48046999	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr12	49600271	49600271	A	C	exonic	FAM186B	.	nonsynonymous SNV	FAM186B:NM_032130:exon4:c.T1369G:p.F457V	.	419	1088	14	1	0	16	0.00729927	.	.	.	1604670	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.007	.	0.0012	0.00259585	0.0031	0.0004	0.0013	0	0.0005	0.0022	0.0055	0.0124	0.0027684	428	154602	rs148848955	0.0022	0.0022	0.0018	0.0025	0.0121	0.0021	0.0021	0.0115	0.0112	0.0005	0.0008	0.0005	0	0.0006	0.0056	0.0017	0.0024	0.0121	0.0013	0.0013	0.0012	0.0014	0.0110	0.0012	0.0011	0.0086	0.0078	0.0006	0	0.0012	0.0009	0.0002	0.0005	0.0068	0.0013	0.0019	0.0110	0.528	0.07163	T	0.615	0.08189	T	0.002	0.09854	B	0.004	0.10090	B	0.131584	0.02813	N	1.964920	1	0.08975	N	1.245	0.31408	L	2.85	0.10578	T	0.2	0.07590	N	0.063	0.03502	-0.9985	0.30339	T	0.015	0.05897	T	9	0.0038258433	0.00072	T	.	.	.	0.007	0.00512	.	.	0.0138822411134	0.00435	0.02506022555357011	0.02457	0.170960860832	0.19261	0.25391843915	0.04192	T	0.006459	0.05891	T	-0.713695	0.00030	T	-0.787562	0.02232	T	0.00239852839324041	0.00025	T	0.414759	0.10842	T	0.030541174	0.02737	0.030046115	0.01411	0.039639454	0.05511	0.040686384	0.04452	-2.123	0.03684	T	.	.	0.104	0.18746	B	.;.	.;.	-0.576906	0.01636	0.114	0.60102682728397716	0.06382	0.09813	0.15483	N	AEFDGBHCI	.	.	.	-1.31707158443633	0.03480	0.1555046	-1.42515154234731	0.03002	0.1392343	0.535150626161564	0.21207	0.554377	0.28877	0	0.588066	0.40923	0	0.608075	0.38828	0	0.567892	0.33627	0	.	.	5.37	-7.64	0.01146	-0.463000	0.06773	-0.879000	0.07072	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.3358:0.1945:0.3604:0.1093	2.685	0.04790	233	0.90919	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.009567	0.010101	0.004076	0.005848	0.000000	0.008621	0.015244	0.018939	0.07143	64.44	36	chr12	49600271	.	A	C	64.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.05;ReadPosRankSum=-0.566;SOR=0.693	GT:AD:DP:GQ:PL	0/1:4,4:8:75:75,0,75	6	0	1	0
chr12	49707142	49707142	C	A	exonic	FMNL3	.	nonsynonymous SNV	FMNL3:NM_001367835:exon1:c.G39T:p.E13D,FMNL3:NM_175736:exon1:c.G39T:p.E13D,FMNL3:NM_198900:exon1:c.G39T:p.E13D	.	417	1089	14	2	0	18	0.00819672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	.	0.0010	0.00299521	0.0043	0.0004	0.0021	0	0.0012	0.0029	0.0089	0.0174	0.0024126	373	154602	rs200294583	0.0021	0.0021	0.0018	0.0024	0.0120	0.0021	0.0020	0.0113	0.0111	0.0006	0.0007	0.0004	0	0.0006	0.0054	0.0016	0.0024	0.0120	0.0013	0.0013	0.0012	0.0014	0.0110	0.0011	0.0011	0.0086	0.0078	0.0006	0	0.0012	0.0009	0.0002	0.0005	0.0068	0.0013	0.0014	0.0110	0.512	0.07449	T	0.553	0.09725	T	0.0	0.02946	B	0.001	0.04355	B	0.056225	0.22577	N	0.445694	0.999974	0.18612	N	0.695	0.17993	N	-1.27	0.80387	T	-0.74	0.20791	N	0.129	0.25499	-0.9819	0.34561	T	0.181	0.52752	T	10	0.0050670207	0.00109	T	.	.	.	0.128	0.35103	0.106	0.01810	0.56265594507	0.55928	0.16400723662352634	0.16320	0.356036802147	0.37358	0.803074836731	0.82433	D	0.010304	0.09320	T	-0.475635	0.00785	T	-0.446598	0.28074	T	0.00898858313818023	0.00112	T	0.622938	0.24812	T	.	.	.	.	.	.	.	.	-4.118	0.25555	T	.	.	0.072	0.04436	B	.;.;.	.;.;.	1.685121	0.21476	15.21	0.91890903621303188	0.21209	0.72995	0.35713	D	AEFDBHCIJ	0.159408	0.28521	N	-0.86912710523105	0.11582	0.5597224	-0.705541733789153	0.16822	0.8917362	0.99999876687679	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	4.61	0.207	0.14491	0.593000	0.23700	0.117000	0.14863	-0.351000	0.05566	0.938000	0.32564	0.944000	0.28851	0.892000	0.42986	0.0:0.4614:0.286:0.2526	5.020	0.13698	379	0.83778	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010606	0.015152	0.004076	0.011765	0.000000	0.017241	0.015337	0.011364	0.1429	33.22	35	chr12	49707142	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=217;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr12	54516990	54516990	A	-	exonic	NCKAP1L	.	frameshift deletion	NCKAP1L:NM_001184976:exon11:c.943delA:p.K315Rfs*60,NCKAP1L:NM_005337:exon11:c.1093delA:p.K365Rfs*60	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	52.4	34	chr12	54516989	.	TA	T	52.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.383;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=1.38;SOR=0.105	GT:AD:DP:GQ:PL	0/1:2,2:4:59:63,0,59	6	0	1	0
chr12	56311318	56311318	G	-	exonic	CNPY2	.	frameshift deletion	CNPY2:NM_014255:exon4:c.301delC:p.H101Ifs*8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	3.84e-05	1	26028	rs752925703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	39.4	34	chr12	56311317	.	TG	T	39.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.366;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.63;ReadPosRankSum=1.07;SOR=0.446	GT:AD:DP:GQ:PL	0/1:5,2:7:50:50,0,134	6	0	1	0
chr12	57191499	57191499	C	G	exonic	LRP1	.	nonsynonymous SNV	LRP1:NM_002332:exon44:c.C7416G:p.N2472K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.0155819797314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.20306	T	0.266	0.22627	T	0.005	0.12996	B	0.007	0.12992	B	0.011613	0.29466	N	0.296074	0.999953	0.19072	N	0.61	0.15665	N	-2.22	0.87038	D	-2.43	0.53258	N	0.285	0.32259	-0.7524	0.57810	T	0.337	0.70363	T	10	0.10615203	0.19656	T	0.015582	0.36391	T	0.283	0.60100	0.55	0.66576	0.530550572561	0.52702	0.9449050656557478	0.94472	.	.	0.677580535412	0.63921	T	0.270243	0.64250	T	-0.168866	0.25407	T	-0.480341	0.24409	T	0.152088835835457	0.17269	T	0.759324	0.38363	T	0.14629224	0.33497	0.110489294	0.26642	0.14629224	0.33496	0.110489294	0.26641	-8.78	0.66270	D	.	.	0.332	0.55376	B	.	.	-0.199163	0.03094	0.488	0.92517959876429756	0.21959	0.30916	0.24205	N	AEFDGBCI	0.212996	0.33862	N	-1.85757408423229	0.00419	0.01802062	-1.86639519284732	0.00569	0.02525967	0.999999807388906	0.74766	0.722319	0.85440	0	0.593476	0.48661	0	0.698795	0.65105	0	0.622129	0.49086	0	.	.	4.61	-8.45	0.00826	-2.498000	0.01045	-4.843000	0.01961	-1.138000	0.01446	0.000000	0.06391	0.000000	0.08366	0.965000	0.52897	0.0:0.5083:0.1007:0.391	11.652	0.50553	345	0.85689	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	123.44	43	chr12	57191499	.	C	G	123.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.72;DP=257;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=-0.141;SOR=1.022	GT:AD:DP:GQ:PL	0/1:8,5:13:99:134,0,184	6	0	1	0
chr12	57611984	57612025	GGGACGTGGTGAGTGCCAGGTCGAGAGGGTCCAGTGTTGAGT	-	exonic	ARHGEF25	.	frameshift deletion	ARHGEF25:NM_001347933:exon1:c.90_97del:p.G31Ifs*8,ARHGEF25:NM_182947:exon1:c.90_97del:p.G31Ifs*8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	52.4	37	chr12	57611983	.	GGGGACGTGGTGAGTGCCAGGTCGAGAGGGTCCAGTGTTGAGT	G	52.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=243;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.82;ReadPosRankSum=0.282;SOR=0.495	GT:AD:DP:GQ:PL	0/1:7,2:9:63:63,0,288	6	0	1	0
chr12	57796402	57796402	T	A	exonic	TSFM	.	nonsynonymous SNV	TSFM:NM_005726:exon6:c.T797A:p.L266H,TSFM:NM_001172696:exon7:c.T860A:p.L287H	Combined oxidative phosphorylation deficiency 3, Autosomal recessive	0	1507	14	1	0	16	0.00528053	.	.	YES	549993	not_provided|Fatal_mitochondrial_disease_due_to_combined_oxidative_phosphorylation_defect_type_3|TSFM-related_disorder	MedGen:C3661900|MONDO:MONDO:0012512,MedGen:C1864840,OMIM:610505,Orphanet:168566|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.488	0.0755807729152	0.0010	0.000199681	0.0017	0.0003	0.0006	0	0.0005	0.0021	0.0016	0.0027	0.0011707	181	154602	rs146777264	0.0014	0.0014	0.0014	0.0015	0.0028	0.0014	0.0014	0.0020	0.0019	9.008e-05	0.0021	0	0	0.0004	0.0028	0.0015	0.0018	0.0023	0.0016	0.0016	0.0014	0.0017	0.0070	0.0014	0.0013	0.0059	0.0055	0.0002	0	0.0070	0	0	0.0003	0.0068	0.0016	0.0019	0.0015	0.097	0.31383	T	0.128	0.35330	T	0.562	0.47796	P	0.62	0.51382	P	0.005287	0.32928	N	0.287528	0.803878	0.81001	D	2.495	0.72670	M	-1.07	0.76948	T	-2.65	0.56787	D	0.447	0.61933	0.168	0.85370	D	0.483	0.80265	T	10	0.024766356	0.00693	T	0.075581	0.72323	D	0.488	0.77592	.	.	0.974076756712	0.97379	0.5422588016396235	0.54150	0.387639376982	0.40038	0.552170753479	0.46163	T	0.286139	0.65893	T	-0.159033	0.26908	T	0.00111825	0.70409	D	0.0413135387144675	0.03928	T	0.828817	0.51465	T	0.20617895	0.42784	0.28467306	0.54467	0.17915486	0.38972	0.2952708	0.55558	-12.153	0.85589	D	.	.	0.162	0.35808	B	.;.	.;.	4.157180	0.62404	24.5	0.95571718316225629	0.27265	0.88405	0.48318	D	AEFDBI	0.491853	0.52874	N	0.323185511039099	0.57340	3.901005	0.385697330241731	0.60681	4.258566	0.998383183525181	0.36869	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.42	5.42	0.78666	2.711000	0.46845	2.946000	0.35689	0.665000	0.62972	0.953000	0.33222	1.000000	0.68203	0.835000	0.39381	0.0:0.0:0.0:1.0	14.568	0.67783	193	0.92507	Translation elongation factor EFTs/EF1B, dimerisation;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.004076	0.005848	0.000000	0.000000	0.003067	0.000000	0.07143	70.44	33	chr12	57796402	.	T	A	70.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-1.111;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,4:6:31:81,0,31	6	0	1	0
chr12	62500822	62500822	A	G	exonic	MON2	.	nonsynonymous SNV	MON2:NM_001278469:exon6:c.A605G:p.N202S,MON2:NM_001278470:exon6:c.A605G:p.N202S,MON2:NM_001278471:exon6:c.A605G:p.N202S,MON2:NM_015026:exon6:c.A605G:p.N202S,MON2:NM_001278472:exon7:c.A389G:p.N130S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.0162624549569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.923e-07	1.368e-06	1.378e-06	0	9.056e-07	0	0	.	.	0	0	0	0	0	0	9.056e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.815	0.04404	T	0.788	0.04330	T	0.044	0.21686	B	0.011	0.15521	B	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	0.14	0.08730	N	0.5	0.63403	T	-0.37	0.19933	N	0.407	0.45615	-0.9545	0.40185	T	0.130	0.44009	T	9	0.19283834	0.35029	T	0.016262	0.37429	T	0.134	0.36365	0.263	0.20788	0.168254554758	0.16434	0.2663518158334562	0.26548	.	.	0.517915308475	0.41332	T	0.011673	0.10383	T	-0.133293	0.30963	T	-0.429243	0.30020	T	0.584965169429779	0.35810	D	0.954405	0.82627	D	0.09306964	0.21850	0.08585857	0.19853	0.09306964	0.21849	0.08585857	0.19853	-2.02	0.03258	T	.	.	0.068	0.05145	B	.;.;.;.;.;.	.;.;.;.;.;.	3.397063	0.47056	22.4	0.89351276005807223	0.18723	0.97674	0.76325	D	AEFBI	0.858969	0.77657	D	-0.0218841698256791	0.40866	2.434347	0.180150362599368	0.48759	3.087681	0.977350912856348	0.29813	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.23	5.23	0.72570	7.293000	0.78092	11.205000	0.89184	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.133	0.72213	724	0.55085	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	31	chr12	62500822	.	A	G	33.22	.	AC=2;AF=0.143;AN=14;DP=182;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr12	68326611	68326611	T	G	exonic	MDM1	.	nonsynonymous SNV	MDM1:NM_020128:exon3:c.A544C:p.I182L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00507703861976	.	0.000199681	8.296e-06	0	8.669e-05	0	0	0	0	0	1.29e-05	2	154602	rs201190543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.565e-06	6.561e-06	1.285e-05	0	6.533e-05	0	0	.	.	0	0	6.533e-05	0	0	0	0	0	0	0	0.694	0.04251	T	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	0.82	0.48142	T	0.21	0.04776	N	0.154	0.15888	-1.0356	0.18668	T	0.048	0.20315	T	8	0.02474925	0.00692	T	0.005077	0.12877	T	0.011	0.01250	.	.	0.0666544352282	0.05500	.	.	.	.	.	.	.	.	.	.	-0.320937	0.06821	T	-0.69878	0.05893	T	0.0321661778307838	0.02332	T	0.174083	0.01670	T	.	.	.	.	.	.	.	.	-2.827	0.08435	T	.	.	0.092	0.13456	B	.	.	0.237496	0.06179	2.630	0.64544311127919973	0.07523	0.03409	0.08530	N	AEFBI	0.054749	0.09980	N	-1.33676225070402	0.03264	0.1455118	-1.35656878220326	0.03728	0.1745436	0.989941478693917	0.31984	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	3.95	-0.828	0.10253	-0.120000	0.10633	0.119000	0.14890	-0.347000	0.05626	0.000000	0.06391	0.002000	0.18203	0.011000	0.09372	0.1429:0.2234:0.1593:0.4743	1.512	0.02347	903	0.23940	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	44.44	35	chr12	68326611	.	T	G	44.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.068;DP=258;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.55;ReadPosRankSum=0.619;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,2:8:55:0|1:68326611_T_G:55,0,235:68326611	6	0	1	0
chr12	68326617	68326617	A	G	exonic	MDM1	.	nonsynonymous SNV	MDM1:NM_020128:exon3:c.T538C:p.F180L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00611522196759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	.	.	.	0.017	0.17573	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	.	.	.	0.82	0.48142	T	-0.03	0.07444	N	0.146	0.14763	-1.0301	0.20422	T	0.055	0.23338	T	8	0.06753895	0.09424	T	0.006115	0.15993	T	0.019	0.03383	0.319	0.29741	0.170165803431	0.16609	.	.	.	.	.	.	.	.	.	.	-0.277543	0.10930	T	-0.636448	0.09930	T	0.0716817650396531	0.08885	T	0.220278	0.02822	T	.	.	.	.	.	.	.	.	-3.035	0.10563	T	.	.	0.681	0.72185	P	.	.	0.953710	0.13297	9.801	0.52569022911139041	0.04773	0.16092	0.19227	N	AEFBI	0.090919	0.18420	N	-0.958261530937949	0.09508	0.4503149	-0.926256625695902	0.11475	0.5848349	0.994477690944138	0.33653	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	5.01	2.38	0.28415	0.161000	0.16298	1.757000	0.28522	0.587000	0.30956	0.000000	0.06391	0.001000	0.17328	0.075000	0.16954	0.5003:0.2839:0.0:0.2158	5.137	0.14273	903	0.23940	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	44.44	35	chr12	68326617	.	A	G	44.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=258;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.55;ReadPosRankSum=0.319;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,2:8:55:0|1:68326611_T_G:55,0,235:68326611	6	0	1	0
chr12	80707891	80707891	G	A	exonic	MYF6	.	nonsynonymous SNV	MYF6:NM_002469:exon1:c.G172A:p.G58R	Myopathy, centronuclear, 3, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	318515	Centronuclear_Myopathy,_Dominant|Autosomal_dominant_centronuclear_myopathy|not_provided	MedGen:CN239281|MONDO:MONDO:0008048,MeSH:D020914,MedGen:C4551952,OMIM:160150,Orphanet:169189|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.359	0.102065277312	.	0.000199681	0.0001	0	0	0.0014	0	1.501e-05	0	0	9.06e-05	14	154602	rs578239628	5.13e-05	5.13e-05	4.764e-05	5.5e-05	0.0018	4.191e-05	3.823e-05	0.0015	0.0014	0	0	0	0.0018	0	0	0	1.656e-05	1.159e-05	6.566e-05	6.562e-05	7.71e-05	5.371e-05	0.0017	3.514e-05	2.615e-05	0.0009	0.0007	0	0	0	0	0.0017	0	0	0	0.0005	0	0.004	0.65419	D	0.012	0.63918	D	0.999	0.77913	D	0.923	0.65830	D	0.000001	0.84330	D	0.054246	1	0.81001	D	2.25	0.63811	M	-1.09	0.77206	T	-1.4	0.34596	N	0.633	0.64648	-0.0925	0.80270	T	0.576	0.84698	D	10	0.14231446	0.27032	T	0.102065	0.77532	D	0.359	0.67962	0.428	0.47515	0.96779336199	0.96744	0.5247655805001932	0.52400	1.18616755917	0.80146	0.824155092239	0.85665	D	0.647402	0.89258	D	-0.179839	0.23760	T	-0.044333	0.67408	D	0.288778119928347	0.24539	T	0.913509	0.69206	D	0.6260233	0.74086	0.52754796	0.72703	0.6260233	0.74087	0.52754796	0.72704	-7.585	0.58206	D	0.4758368964989992	0.55543	0.513	0.65149	A	.	.	5.789334	0.93562	33	0.99902018802007853	0.97350	0.99702	0.98799	D	AEFDBI	0.923042	0.89892	D	0.773135646703661	0.84399	8.277519	0.782543892919148	0.88554	9.625921	1.0	0.98316	0.497415	0.19182	0	0.563428	0.19063	0	0.503968	0.08637	0	0.542086	0.14980	0	.	.	5.62	5.62	0.85714	9.561000	0.97256	11.858000	0.98250	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	19.652	0.95815	871	0.31377	Myogenic basic muscle-specific protein|Myogenic basic muscle-specific protein	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr12	80707891	.	G	A	33.22	.	AC=2;AF=0.143;AN=14;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr12	81268054	81268054	C	T	exonic	PPFIA2	.	nonsynonymous SNV	PPFIA2:NM_001220479:exon17:c.G1952A:p.R651H,PPFIA2:NM_001220480:exon18:c.G902A:p.R301H,PPFIA2:NM_001220477:exon25:c.G3041A:p.R1014H,PPFIA2:NM_001220478:exon25:c.G3029A:p.R1010H,PPFIA2:NM_001282536:exon26:c.G2885A:p.R962H,PPFIA2:NM_001220475:exon27:c.G3281A:p.R1094H,PPFIA2:NM_001220473:exon28:c.G3344A:p.R1115H,PPFIA2:NM_001220474:exon28:c.G3299A:p.R1100H,PPFIA2:NM_001220476:exon28:c.G3326A:p.R1109H,PPFIA2:NM_003625:exon29:c.G3344A:p.R1115H	.	441	1045	36	0	0	36	0.0169332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.536	.	0.0070	0.00399361	0.0115	0.0022	0.0058	0	0.0012	0.0140	0.0080	0.0199	0.0064423	996	154602	rs61756413	0.0086	0.0086	0.0083	0.0088	0.0137	0.0084	0.0084	0.0130	0.0128	0.0014	0.0034	0.0102	0.0001	0.0014	0.0113	0.0092	0.0083	0.0137	0.0053	0.0054	0.0055	0.0052	0.0143	0.0050	0.0049	0.0116	0.0106	0.0014	0	0.0024	0.0118	0.0002	0.0008	0.0105	0.0086	0.0053	0.0143	0.218	0.20988	T	0.291	0.20944	T	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.835	0.21042	L	-1.92	0.84773	D	-0.11	0.23372	N	0.56	0.66700	0.114	0.84433	D	0.615	0.86389	D	10	0.013827771	0.00292	T	.	.	.	0.536	0.80545	.	.	0.930576009411	0.92986	0.39334430205409027	0.39249	1.42373316533	0.85663	0.761375904083	0.76134	T	0.058123	0.30755	T	-0.111376	0.34542	T	0.0789164	0.75505	D	0.0156376510572331	0.00358	T	0.929607	0.74365	D	0.35029003	0.57090	0.29099292	0.55124	0.35029003	0.57090	0.29099292	0.55123	-7.346	0.61404	T	.	.	0.087	0.28027	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.561971	0.92146	32	0.99394218987553684	0.62474	0.97156	0.73019	D	AEFHI	0.897733	0.84025	D	0.68250432754919	0.78488	6.881378	0.715415096013723	0.83549	8.050912	0.999999999999919	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.91	5.91	0.95240	6.163000	0.71702	7.669000	0.64672	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.305	0.98622	766	0.49742	.;.;Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|Liprin-alpha, SAM domain repeat 3;Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|Liprin-alpha, SAM domain repeat 3;.;.;Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|Liprin-alpha, SAM domain repeat 3;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.010101	0.008152	0.005848	0.000000	0.017241	0.006098	0.034091	0.1429	33.22	33	chr12	81268054	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=205;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr12	100380824	100380824	T	-	exonic	SLC17A8	.	frameshift deletion	SLC17A8:NM_001145288:exon2:c.225delT:p.Y76Tfs*6,SLC17A8:NM_139319:exon2:c.225delT:p.Y76Tfs*6	Deafness, autosomal dominant 25, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	43.4	35	chr12	100380823	.	GT	G	43.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.366;DP=232;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.2;ReadPosRankSum=-0.366;SOR=0.446	GT:AD:DP:GQ:PL	0/1:5,2:7:54:54,0,166	6	0	1	0
chr12	103733065	103733077	GCCCACCGACCAA	-	exonic	STAB2	.	frameshift deletion	STAB2:NM_017564:exon51:c.5343_5355del:p.T1783Sfs*21	.	11	1507	3	1	0	5	0.00165618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1326855022	2.736e-06	2.736e-06	2.722e-06	2.75e-06	1.799e-06	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	3.311e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	64.4	34	chr12	103733064	.	GGCCCACCGACCAA	G	64.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=205;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-1.383;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,2:5:75:75,0,120	6	0	1	0
chr12	105126095	105126095	G	A	exonic	WASHC4	.	nonsynonymous SNV	WASHC4:NM_001293640:exon11:c.G878A:p.R293Q,WASHC4:NM_015275:exon11:c.G878A:p.R293Q	.	439	1078	5	0	0	5	0.00231374	.	.	.	226930	not_provided|WASHC4-related_disorder|Inborn_genetic_diseases	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.246	0.0195611185927	0.0014	0.00119808	0.0018	0.0001	0.0030	0	0	0.0026	0.0023	0.0002	0.0017658	273	154602	rs35267264	0.0017	0.0017	0.0017	0.0018	0.0038	0.0017	0.0017	0.0026	0.0022	0.0003	0.0024	0	0	0.0001	0.0038	0.0021	0.0014	0.0003	0.0014	0.0015	0.0016	0.0013	0.0026	0.0013	0.0012	0.0023	0.0022	0.0003	0	0.0017	0	0	0	0	0.0026	0.0009	0	0.066	0.36113	T	0.062	0.45318	T	0.993	0.65571	D	0.77	0.56828	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.36	0.34452	T	-1.6	0.38540	N	0.865	0.86191	-0.8796	0.49793	T	0.189	0.54049	T	10	0.055656135	0.06118	T	0.019561	0.41954	T	0.246	0.55340	.	.	0.649541849935	0.64662	0.6092801954649615	0.60860	0.721910596354	0.62253	0.572447240353	0.49024	T	0.030568	0.30764	T	-0.136116	0.30510	T	0.0286514	0.72191	D	0.0493454970419407	0.05384	T	0.963804	0.86607	D	0.25921568	0.48974	0.26098907	0.51871	0.24895392	0.47886	0.2349598	0.48726	-3.378	0.14762	T	0.2869922312430179	0.38310	0.212	0.47382	B	.;.	.;.	4.705053	0.75534	26.3	0.9995048659989606	0.99938	0.99260	0.93590	D	AEFGBI	0.860511	0.77838	D	0.72227418753605	0.81093	7.442052	0.733636679200362	0.84931	8.431703	0.999999999999306	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.711	0.71501	0	.	.	5.56	5.56	0.83678	8.146000	0.89551	11.836000	0.97677	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.518	0.95164	851	0.35303	WASH complex subunit 7, N-terminal;WASH complex subunit 7, 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	0.003030	0.000000	0.004076	0.000000	0.000000	0.000000	0.006135	0.003788	0.1429	209.21	35	chr12	105126095	.	G	A	209.21	.	AC=2;AF=0.143;AN=14;DP=212;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=26.15;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,8:8:24:230,24,0	6	1	0	0
chr12	109792687	109792687	T	C	exonic	TRPV4	.	nonsynonymous SNV	TRPV4:NM_001177433:exon8:c.A1468G:p.K490E,TRPV4:NM_001177428:exon9:c.A1648G:p.K550E,TRPV4:NM_147204:exon9:c.A1609G:p.K537E,TRPV4:NM_001177431:exon11:c.A1687G:p.K563E,TRPV4:NM_021625:exon11:c.A1789G:p.K597E	Brachyolmia type 3, Autosomal dominant;Digital arthropathy-brachydactyly, familial, Autosomal dominant;Hereditary motor and sensory neuropathy, type IIc, Autosomal dominant;Metatropic dysplasia, Autosomal dominant;Parastremmatic dwarfism, Autosomal dominant;SED, Maroteaux type, Autosomal dominant;Scapuloperoneal spinal muscular atrophy, Autosomal dominant;Spinal muscular atrophy, distal, congenital nonprogressive, Autosomal dominant;Spondylometaphyseal dysplasia, Kozlowski type, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.697	0.119774967049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.45039	D	0.049	0.49120	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.8	0.47472	L	-4.78	0.98140	D	-0.8	0.22078	N	0.396	0.53269	1.074	0.98704	D	0.951	0.98406	D	10	0.39938003	0.55458	T	0.119775	0.80016	D	0.697	0.89053	0.563	0.68364	0.976651661176	0.97640	0.8688079128804699	0.86845	2.36727214104	0.96895	0.899913549423	0.96431	D	0.709514	0.91703	D	0.490426	0.94023	D	0.466687	0.93946	D	0.772086676853268	0.44565	D	0.886311	0.75689	D	0.20362163	0.42446	0.27383092	0.53305	0.20362163	0.42446	0.27383092	0.53304	-8.928	0.68434	D	0.437284568090141	0.52340	0.822	0.79091	P	.;.;.;.;.;.	.;.;.;.;.;.	4.793038	0.77804	26.8	0.99912490448530544	0.98167	0.95178	0.63725	D	AEFDBI	0.712568	0.66565	D	0.493220294575226	0.66693	4.983205	0.559907861603	0.72091	5.755287	0.999995616285241	0.74766	0.706548	0.73137	0	0.563428	0.19063	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	6.06	6.06	0.98340	5.090000	0.64332	5.017000	0.46715	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.0:1.0	15.794	0.78166	708	0.56926	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	.	.	.	.	.	.	.	.	0.1429	33.22	37	chr12	109792687	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr12	114674766	114674766	C	T	exonic	TBX3	.	nonsynonymous SNV	TBX3:NM_005996:exon6:c.G1109A:p.C370Y,TBX3:NM_016569:exon7:c.G1169A:p.C390Y	Ulnar-mammary syndrome, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	3508271	TBX3-related_disorder	.	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.249	0.0657077233053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.783e-06	4.104e-06	2.765e-06	2.802e-06	0.0005	6.5e-07	4.4e-07	0.0001	7.568e-05	0	0	0	0	0	0.0005	0	0	1.198e-05	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.305	0.15047	T	1.0	0.01155	T	0.04	0.40458	B	0.033	0.40007	B	0.245571	0.03612	N	1.671300	0.633779	0.30676	N	0.345	0.11182	N	-2.24	0.87194	D	-1.59	0.38924	N	0.429	0.46835	-0.5693	0.66042	T	0.428	0.77075	T	10	0.19905865	0.35900	T	0.065708	0.69661	D	0.249	0.55752	0.223	0.14665	0.42491565096	0.42108	0.06319278459488357	0.06258	1.14515509009	0.79054	0.643330574036	0.59038	T	0.189811	0.54416	T	0.00476143	0.52310	T	-0.230937	0.51682	T	0.412574797868729	0.29414	T	0.764624	0.39166	T	0.17894825	0.38941	0.21561286	0.46158	0.17894825	0.38941	0.21561286	0.46157	-5.933	0.45716	T	.	.	0.126	0.26825	B	.;.	.;.	3.302847	0.45351	22.1	0.96945324467791127	0.31715	0.87079	0.46512	D	AEFDBCI	0.728982	0.67684	D	-0.131465485647192	0.36025	2.076985	0.0618153341583583	0.42646	2.583156	0.999999998100107	0.74766	0.516011	0.20929	0	0.59043	0.45803	0	0.606814	0.37721	0	0.586402	0.36253	0	.	.	5.08	5.08	0.68373	2.596000	0.45870	4.842000	0.45294	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.886000	0.42526	0.0:0.9187:0.0:0.0813	12.895	0.57485	961	0.08552	Transcription factor, T-box, region of unknown function;Transcription factor, T-box, region of unknown function	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	60.44	34	chr12	114674766	.	C	T	60.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.385;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=1.96;SOR=0.693	GT:AD:DP:GQ:PL	0/1:3,3:6:71:71,0,74	6	0	1	0
chr12	117280772	117280772	G	A	exonic	NOS1	.	nonsynonymous SNV	NOS1:NM_001204213:exon7:c.C469T:p.P157S,NOS1:NM_001204214:exon7:c.C469T:p.P157S,NOS1:NM_000620:exon8:c.C1477T:p.P493S,NOS1:NM_001204218:exon8:c.C1477T:p.P493S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.011196850895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.46513	D	0.082	0.43344	T	0.55	0.38124	P	0.151	0.34210	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.025	0.55430	M	0.96	0.42888	T	-5.26	0.84105	D	0.387	0.48596	-0.8271	0.53486	T	0.140	0.45903	T	10	0.39102215	0.54892	T	0.011197	0.28580	T	0.222	0.51872	0.514	0.61307	0.566098420041	0.56274	0.7565361529728372	0.75601	2.14347587928	0.95256	0.65468609333	0.60651	T	0.447944	0.79001	T	-0.0498468	0.44470	T	-0.309378	0.43725	T	0.992138803005219	0.82542	D	0.965103	0.87078	D	0.66960335	0.76411	0.666604	0.80449	0.66960335	0.76413	0.666604	0.80450	-9.008	0.67749	D	.	.	0.089	0.12037	B	.;.;.;.	.;.;.;.	4.235073	0.64170	24.7	0.99869672117085961	0.94726	0.98050	0.79176	D	AEFDBI	0.942048	0.94612	D	0.428305905143774	0.62983	4.523711	0.50898904938119	0.68595	5.241603	0.999999929284168	0.74766	0.614807	0.35715	0	0.547309	0.14657	0	0.616094	0.41390	0	0.564101	0.26826	0	.	.	5.14	5.14	0.70008	7.947000	0.87238	11.748000	0.95342	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:1.0:0.0	18.798	0.91967	894	0.26265	Nitric oxide synthase, N-terminal;.;.;Nitric oxide synthase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr12	117280772	.	G	A	33.22	.	AC=2;AF=0.143;AN=14;DP=219;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr12	117311552	117311552	C	T	exonic	NOS1	.	nonsynonymous SNV	NOS1:NM_000620:exon3:c.G766A:p.V256M,NOS1:NM_001204218:exon3:c.G766A:p.V256M	.	416	1105	1	0	0	1	0.000452284	.	.	.	2358172	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.015	0.00597369221384	.	.	2.53e-05	0	0	0	0	4.537e-05	0	0	1.94e-05	3	154602	rs746579521	9.174e-05	9.166e-05	9.944e-05	8.396e-05	0.0001	7.897e-05	7.371e-05	9.384e-05	8.789e-05	2.988e-05	4.485e-05	0	0	0	0	0.0001	9.944e-05	3.496e-05	4.6e-05	4.596e-05	3.853e-05	5.381e-05	7.348e-05	2.109e-05	1.527e-05	2.846e-05	1.858e-05	2.413e-05	0	6.545e-05	0	0	0	0	7.348e-05	0	0	0.191	0.21066	T	0.136	0.34009	T	0.003	0.11197	B	0.002	0.06944	B	0.660931	0.10427	N	0.849680	1	0.08975	N	1.59	0.40313	L	4.97	0.01356	T	-0.26	0.11185	N	0.039	0.03841	-0.9703	0.37136	T	0.015	0.05801	T	10	0.054187983	0.05729	T	0.005974	0.15579	T	0.015	0.02232	.	.	0.171220215726	0.16700	0.26489788378585455	0.26402	0.239912507065	0.26538	0.306857168674	0.11431	T	0.337531	0.70690	T	-0.544971	0.00313	T	-0.76091	0.03080	T	0.0216860489798458	0.00873	T	0.763224	0.38939	T	0.031064192	0.02878	0.04494958	0.05939	0.031064192	0.02878	0.04494958	0.05939	-3.962	0.23233	T	.	.	0.064	0.03964	B	.;.;.;.	.;.;.;.	0.617000	0.09856	6.617	0.93031259036585323	0.22632	0.01688	0.05383	N	AEFDBI	0.045600	0.07476	N	-1.01296257892385	0.08334	0.3904121	-1.00685698179333	0.09634	0.4804325	7.514356571963E-4	0.07758	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.836244	0.99985	0	.	.	5.65	1.01	0.19044	0.089000	0.14843	-0.024000	0.12886	-0.332000	0.05765	0.030000	0.20431	0.001000	0.17328	0.089000	0.17737	0.0:0.4878:0.0:0.5122	6.494	0.21331	888	0.27761	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.1429	33.22	34	chr12	117311552	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr12	120993562	120993562	-	A	exonic	HNF1A	.	frameshift insertion	HNF1A:NM_000545:exon3:c.570dupA:p.G191Rfs*2,HNF1A:NM_001306179:exon3:c.570dupA:p.G191Rfs*2	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	52.4	43	chr12	120993562	.	C	CA	52.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=235;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=-0.431;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:63:63,0,63	6	0	1	0
chr12	128705277	128705277	G	A	exonic	TMEM132C	.	nonsynonymous SNV	TMEM132C:NM_001136103:exon9:c.G2309A:p.R770Q	.	.	.	.	.	.	.	.	.	.	.	3616761	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.093	0.00509770518498	.	.	5.005e-05	0	0	0	0	0.0001	0	0	6.5e-06	1	154602	rs758641133	4.788e-05	4.583e-05	5.5e-05	4.057e-05	0.0007	3.825e-05	3.497e-05	0.0003	0.0003	0.0005	0.0001	0	2.798e-05	4.066e-05	0.0007	3.429e-05	3.448e-05	1.262e-05	7.883e-05	7.879e-05	7.706e-05	8.069e-05	0.0002	4.496e-05	3.512e-05	0.0001	9.935e-05	0.0002	0	0	0	0	0	0	2.94e-05	0	0	0.025	0.47320	D	0.169	0.30534	T	0.719	0.42322	P	0.104	0.31021	B	0.004469	0.33710	N	0.121402	0.996942	0.43522	D	1.89	0.50145	L	2.31	0.16794	T	-2.33	0.51646	N	0.095	0.07535	-1.0549	0.13066	T	0.025	0.10733	T	10	0.10221028	0.18719	T	0.005098	0.12939	T	0.093	0.26882	.	.	0.043077524339	0.03247	0.41701676538065496	0.41617	0.179672211306	0.20209	0.353262394667	0.18401	T	0.018175	0.14695	T	-0.480818	0.00731	T	-0.559689	0.16406	T	0.108992323279381	0.13318	T	0.860814	0.55431	D	0.10402196	0.24589	0.109942585	0.26504	0.10402196	0.24588	0.109942585	0.26504	-7.828	0.59892	D	.	.	0.089	0.12181	B	.	.	3.384504	0.46828	22.4	0.99858529739070689	0.93729	0.73560	0.35981	D	AEFDBI	0.170513	0.29742	N	-0.0574941467746286	0.39267	2.312949	-0.036240821049298	0.38092	2.23932	1.94635759904319E-4	0.05898	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.84	2.7	0.31007	3.176000	0.50564	4.349000	0.43081	0.676000	0.76740	0.959000	0.33545	0.967000	0.29559	0.836000	0.39433	0.5508:0.0:0.4492:0.0	4.151	0.09704	994	0.00715	Transmembrane protein family 132, middle domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	63.44	37	chr12	128705277	.	G	A	63.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.967;DP=213;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21.15;ReadPosRankSum=0.967;SOR=1.179	GT:AD:DP:GQ:PL	0/1:1,2:3:26:74,0,26	6	0	1	0
chr13	20067005	20067005	A	G	exonic	ZMYM2	.	nonsynonymous SNV	ZMYM2:NM_001190965:exon20:c.A3287G:p.D1096G,ZMYM2:NM_001353157:exon20:c.A3287G:p.D1096G,ZMYM2:NM_001353159:exon20:c.A3287G:p.D1096G,ZMYM2:NM_001353164:exon20:c.A3287G:p.D1096G,ZMYM2:NM_001353165:exon20:c.A3287G:p.D1096G,ZMYM2:NM_197968:exon20:c.A3287G:p.D1096G,ZMYM2:NM_001190964:exon21:c.A3287G:p.D1096G,ZMYM2:NM_001353163:exon21:c.A3026G:p.D1009G,ZMYM2:NM_003453:exon21:c.A3287G:p.D1096G,ZMYM2:NM_001353161:exon22:c.A3092G:p.D1031G,ZMYM2:NM_001353162:exon22:c.A3287G:p.D1096G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.00736699327168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.17014	T	0.039	0.21116	B	0.034	0.22546	B	0.048217	0.23273	N	0.506031	0.966424	0.38529	D	1.32	0.33002	L	2.24	0.17923	T	.	.	.	0.276	0.31253	-1.0546	0.13145	T	0.026	0.10998	T	10	0.18629909	0.34089	T	0.007367	0.19550	T	0.068	0.19811	0.368	0.37687	0.215239754934	0.21150	0.28364028923248596	0.28277	.	.	0.424404859543	0.28442	T	0.219482	0.58250	T	-0.128323	0.31766	T	-0.422104	0.30835	T	0.571670711040497	0.35298	D	0.921108	0.71398	D	0.15860735	0.35674	0.16575657	0.38329	0.15860735	0.35674	0.16575657	0.38328	-4.617	0.32385	T	.	.	0.110	0.21011	B	.;.;.	.;.;.	4.307590	0.65821	24.9	0.99089795845772322	0.52173	0.98976	0.89428	D	AEFBI	0.610945	0.59958	D	-0.18735969020094	0.33660	1.912202	0.0278189492474396	0.41011	2.456834	0.994192364212022	0.33529	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.19	5.19	0.71428	5.612000	0.67362	11.240000	0.90396	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	13.620	0.61604	793	0.45818	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr13	20067005	.	A	G	33.22	.	AC=2;AF=0.143;AN=14;DP=196;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr13	20142949	20142949	-	CTC	exonic	GJA3	.	nonframeshift insertion	GJA3:NM_021954:exon2:c.339_340insGAG:p.E113_Q114insE	Cataract 14, multiple types, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	137.4	38	chr13	20142949	.	G	GCTC	137.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.792;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.63;ReadPosRankSum=1.37;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,4:7:99:148,0,114	6	0	1	0
chr13	23340893	23340893	C	A	exonic	SACS	.	nonsynonymous SNV	SACS:NM_001278055:exon8:c.G2542T:p.V848F,SACS:NM_014363:exon10:c.G2983T:p.V995F	Spastic ataxia, Charlevoix-Saguenay type, Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	.	215463	Charlevoix-Saguenay_spastic_ataxia|Spastic_paraplegia|not_provided|not_specified|Hereditary_spastic_paraplegia	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550,Orphanet:98|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.264	0.035348618586	0.0017	0.00179712	0.0020	0.0003	0.0019	0	0.0011	0.0026	0.0011	0.0023	0.002044	316	154602	rs142967124	0.0023	0.0023	0.0022	0.0023	0.0026	0.0022	0.0022	0.0025	0.0025	0.0003	0.0012	0.0019	0	0.0010	0.0026	0.0026	0.0014	0.0022	0.0017	0.0017	0.0019	0.0016	0.0027	0.0015	0.0015	0.0024	0.0023	0.0004	0.0132	0.0016	0.0009	0	0.0007	0	0.0027	0.0019	0.0019	0.008	0.58626	D	0.011	0.67890	D	0.002	0.09854	B	0.003	0.08700	B	0.011878	0.29372	N	0.370022	0.994044	0.23598	N	0.69	0.16971	N	-2.41	0.88533	D	-1.23	0.31170	N	0.297	0.33687	-0.8465	0.52208	T	0.289	0.66094	T	10	0.005890131	0.00132	T	0.035349	0.56284	D	0.264	0.57741	.	.	0.33835085245	0.33439	0.7132605807746499	0.71268	.	.	0.333121299744	0.15405	T	0.224856	0.58942	T	-0.311595	0.07608	T	-0.224352	0.52317	T	0.0107761122433494	0.00152	T	0.842916	0.51943	T	0.12160948	0.28593	0.10158022	0.24322	0.09360632	0.21988	0.11698783	0.28241	-4.08	0.26053	T	0.3542140429776149	0.45118	0.176	0.38534	B	.;.	.;.	1.004826	0.13833	10.39	0.94538618014525511	0.25043	0.22802	0.21868	N	AEFBCI	0.141948	0.26426	N	-1.44937097650986	0.02222	0.09786837	-1.44154030789649	0.02848	0.1317515	0.99999766191206	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	6.05	-6.84	0.01527	-0.130000	0.10477	-0.242000	0.10582	-0.816000	0.03012	0.005000	0.17040	0.131000	0.23000	0.984000	0.60418	0.0:0.1874:0.0827:0.73	12.592	0.55803	986	0.02773	.;.	.	.	.	.	.	Likely benign	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	0.002014	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.000000	0.07143	229.44	40	chr13	23340893	.	C	A	229.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=289;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=22.94;ReadPosRankSum=0.405;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,6:10:99:0|1:23340888_T_C:240,0,150:23340888	6	0	1	0
chr13	26676725	26676726	GT	-	splicing	WASF3	NM_006646:exon7:r.spl	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0004	0.0003	0.0001	0.0005	0.0003	0	0.0011	0.0003458	9	26028	rs766730218	2.605e-05	0.0005	2.182e-05	3.032e-05	8.994e-05	1.936e-05	1.696e-05	2.996e-05	1.812e-05	0	8.994e-05	0.0001	7.585e-05	1.876e-05	0	1.711e-05	4.978e-05	5.835e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	50.4	33	chr13	26676724	.	GGT	G	50.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.282;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.4;ReadPosRankSum=-0.842;SOR=0.693	GT:AD:DP:GQ:PL	0/1:4,2:6:61:61,0,139	6	0	1	0
chr13	41252659	41252659	G	A	exonic	MTRF1	.	nonsynonymous SNV	MTRF1:NM_001354074:exon5:c.C683T:p.T228I,MTRF1:NM_004294:exon5:c.C683T:p.T228I,MTRF1:NM_001354076:exon8:c.C683T:p.T228I,MTRF1:NM_001354073:exon10:c.C683T:p.T228I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0296671959415	0.0002	.	6.694e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs148160458	4.044e-05	4.104e-05	5.048e-05	3.03e-05	8.11e-06	3.185e-05	2.916e-05	3.82e-06	2.76e-06	0	0	0.0016	0	0	0	8.11e-06	0.0001	0	4.601e-05	4.597e-05	3.855e-05	5.382e-05	.	2.11e-05	1.527e-05	.	.	0	0	0	0.0020	0	0	0	0	0	0	0.289	0.15047	T	0.3	0.38891	T	0.885	0.48692	P	0.541	0.48869	P	0.000066	0.52346	D	0.198564	0.996459	0.81001	D	3.01	0.86067	M	0.88	0.46028	T	-1.94	0.45042	N	0.556	0.58117	-0.7315	0.58888	T	0.202	0.55919	T	10	0.06835714	0.09656	T	0.029667	0.52133	D	0.123	0.34020	.	.	0.772169728129	0.77008	0.6284745662626787	0.62780	0.407159606283	0.41585	0.592951476574	0.51911	T	0.005396	0.26860	T	-0.0431114	0.45486	T	-0.284217	0.46370	T	0.427873920819428	0.29982	T	0.538946	0.31875	T	0.100440376	0.23715	0.15202755	0.35786	0.100440376	0.23715	0.15202755	0.35785	-5.455	0.41445	T	.	.	0.170	0.37350	B	.;.;.	.;.;.	4.493332	0.70214	25.5	0.99864097816841524	0.94276	0.97191	0.73226	D	AEFBI	0.473014	0.51788	N	0.616273441251146	0.74202	6.093	0.637232017369526	0.77663	6.722887	0.999999999788823	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.6	5.6	0.84997	4.409000	0.59524	11.723000	0.94851	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0711:0.0:0.9289:0.0	14.827	0.69749	707	0.57054	Peptide chain release factor|Peptide chain release factor;Peptide chain release factor|Peptide chain release factor;Peptide chain release factor|Peptide chain release factor	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr13	41252659	.	G	A	33.22	.	AC=2;AF=0.143;AN=14;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr13	73846052	73846052	C	A	exonic	KLF12	.	nonsynonymous SNV	KLF12:NM_007249:exon4:c.G445T:p.V149L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.0144186664317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.841	0.46518	P	0.785	0.57495	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.295	0.10161	N	1.76	0.25996	T	0.33	0.03889	N	0.569	0.59223	-1.1512	0.00990	T	0.068	0.27879	T	10	0.40443444	0.55793	T	0.014419	0.34525	T	0.221	0.51721	0.141	0.04462	0.459974577466	0.45620	0.5029666526413271	0.50218	0.172866943843	0.19464	0.769081830978	0.77287	T	0.018451	0.14872	T	-0.00188421	0.51394	T	-0.240483	0.50752	T	0.782384037971497	0.45200	D	0.850515	0.53399	D	0.13013606	0.30375	0.21046701	0.45435	0.13013606	0.30374	0.21046701	0.45434	-2.63	0.06734	T	.	.	0.508	0.64956	A	.	.	3.309946	0.45477	22.1	0.98699623178065521	0.44881	0.97663	0.76248	D	AEFBI	0.638826	0.61710	D	0.268939678744004	0.54580	3.623	0.391264109455773	0.61026	4.297084	0.999999999999998	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	6.02	6.02	0.97559	4.735000	0.61746	5.941000	0.51480	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.529	0.95212	939	0.14249	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	44.44	37	chr13	73846052	.	C	A	44.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.15;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.55;ReadPosRankSum=0.703;SOR=0.818	GT:AD:DP:GQ:PL	0/1:5,3:8:55:55,0,148	6	0	1	0
chr13	79378837	79378837	C	A	exonic	RBM26	.	stopgain	RBM26:NM_001286631:exon2:c.G142T:p.E48X,RBM26:NM_001286632:exon2:c.G142T:p.E48X,RBM26:NM_001366735:exon2:c.G142T:p.E48X,RBM26:NM_022118:exon2:c.G142T:p.E48X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.436	0.47857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.622132	0.98769	D	0.655873	0.98747	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Recessive	.;.;.;High	9.385078	0.98855	41	0.99767953324063507	0.85666	0.99796	0.99525	D	AEFBI	0.280137	0.39403	N	1.20883065492596	0.99628	24.51426	1.06904769376108	0.99573	23.92005	1.0	0.98316	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	7.905000	0.86479	7.702000	0.66341	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.571	0.95412	886	0.28090	.;PWI domain;.;PWI domain	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr13	79378837	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=205;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr13	98177234	98177234	C	A	exonic	RNF113B	.	startloss	RNF113B:NM_178861:exon1:c.G3T:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0408152565424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.159e-07	2.052e-06	1.412e-06	0	1.285e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.285e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.936	0.52359	P	0.885	0.62825	P	0.024570	0.26239	U	0.374874	0.999994	0.81001	N	.	.	.	1.65	0.27650	T	-0.68	0.19509	N	0.621	0.63628	-0.9572	0.39699	T	0.129	0.43767	T	9	0.9707128	0.96663	D	0.040815	0.59586	D	0.220	0.51569	0.999	0.99990	0.252162846088	0.24830	0.6159628791300056	0.61528	.	.	.	.	.	0.004898	0.04322	T	-0.0329905	0.46981	T	-0.285165	0.46272	T	0.960350513458252	0.65782	D	0.9	0.65058	D	0.8312756	0.85991	0.55962014	0.74522	0.8312756	0.85992	0.55962014	0.74522	-10.841	0.78778	D	.	.	.	.	.	.	.	2.782294	0.36553	20.3	0.98820910653534155	0.46786	0.03471	0.08627	N	AEFDBCI	0.011857	0.00114	N	-0.330069582580075	0.28010	1.541503	-0.607371360220458	0.19304	1.035066	0.999998240312732	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.467745	0.07146	0	0.714379	0.83352	0	.	.	1.17	1.17	0.19998	0.772000	0.26309	3.543000	0.39013	0.469000	0.21855	0.033000	0.20612	1.000000	0.68203	0.094000	0.17991	0.0:1.0:0.0:0.0	5.682	0.17052	688	0.59122	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	30.59	23	chr13	98177234	.	C	A	30.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.967;DP=179;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:1:41,0,1	6	0	1	0
chr13	99970414	99970434	GGCGGCGGCGGCGGCGGCGGC	-	exonic	ZIC5	.	nonframeshift deletion	ZIC5:NM_033132:exon1:c.1242_1262del:p.P418_P424del	.	146	836	5	0	535	540	0.00298151	.	.	.	725540	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0130	.	0.0092	0	0.0043	0	0.0015	0.0092	0.0167	0.0153	0.0001153	3	26028	rs774118755	0.0091	0.0066	0.0079	0.0104	0.0476	0.0089	0.0089	0.0455	0.0447	0.0018	0.0298	0.0343	0.0005	0.0085	0.0165	0.0074	0.0106	0.0476	0.0052	0.0048	0.0057	0.0047	0.0130	0.0049	0.0048	0.0100	0.0090	0.0010	0	0.0059	0.0121	0.0006	0.0027	0.0290	0.0075	0.0061	0.0130	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2709.6	46	chr13	99970413	.	TGGCGGCGGCGGCGGCGGCGGC	T	2709.6	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.382;DP=287;ExcessHet=0.3696;FS=10.14;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=22.21;ReadPosRankSum=0.76;SOR=1.407	GT:AD:DP:GQ:PL	1/1:0,5:5:15:226,15,0	6	1	0	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	.	.	.	.	.	.	.	.	0.2	71.58	97	chr13	102737670	.	C	G	71.58	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-4.049;DP=780;ExcessHet=0.3476;FS=432.914;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=0.882;SOR=8.909	GT:AD:DP:GQ:PL	0/1:8,6:14:20:20,0,104	3	0	2	2
chr13	110170586	110170586	T	C	exonic	COL4A1	.	nonsynonymous SNV	COL4A1:NM_001845:exon42:c.A3703G:p.K1235E	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Autosomal dominant;Brain small vessel disease with or without ocular anomalies, Autosomal dominant;Porencephaly 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.763	0.421845245963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.41364	D	0.116	0.36497	T	0.998	0.73220	D	0.984	0.76113	D	0.000041	0.53742	D	0.157369	1	0.81001	D	2.425	0.70256	M	-3.19	0.93170	D	-2.19	0.49352	N	0.734	0.73465	0.680	0.92921	D	0.825	0.94103	D	10	0.7851852	0.78186	D	0.421845	0.93809	D	0.763	0.91962	0.516	0.61611	0.765211053713	0.76306	0.9428905423372139	0.94271	1.42373316533	0.85663	0.659265398979	0.61304	T	0.462566	0.79887	T	0.200139	0.73904	D	0.0497092	0.73564	D	0.965986907482147	0.67439	D	0.865913	0.56597	D	0.251473	0.48156	0.32278746	0.58216	0.251473	0.48156	0.32278746	0.58215	-8.63	0.65287	D	0.5766782332351194	0.64362	0.691	0.72593	P	.	.	4.856224	0.79421	27.1	0.99892864441566576	0.96666	0.98309	0.81491	D	AEFDBCI	0.930838	0.91874	D	0.588310433067615	0.72446	5.806817	0.591399914181598	0.74319	6.117269	0.999999998021296	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.07	5.07	0.68106	7.384000	0.79020	7.787000	0.68803	0.664000	0.56970	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:0.0:1.0	14.878	0.70147	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	25	chr13	110170586	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=161;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr13	113075997	113075997	T	C	exonic	MCF2L	.	nonsynonymous SNV	MCF2L:NM_001366645:exon10:c.T1226C:p.L409P,MCF2L:NM_001366646:exon10:c.T1226C:p.L409P,MCF2L:NM_001112732:exon12:c.T1340C:p.L447P,MCF2L:NM_001320815:exon12:c.T1334C:p.L445P,MCF2L:NM_001320816:exon12:c.T1352C:p.L451P,MCF2L:NM_001320817:exon12:c.T1334C:p.L445P,MCF2L:NM_001366644:exon12:c.T1253C:p.L418P,MCF2L:NM_024979:exon12:c.T1334C:p.L445P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.484	0.252196459122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.88582	D	0.000002	0.62929	D	0.000000	1	0.81001	D	3.035	0.86516	M	1.93	0.65563	T	-6.35	0.91741	D	0.967	0.97856	-0.6840	0.61187	T	0.195	0.54927	T	10	0.8727033	0.86545	D	0.252196	0.89162	D	0.484	0.77335	.	.	0.965215785449	0.96484	0.9053007686192718	0.90503	1.44611194142	0.86059	0.814548611641	0.84190	D	0.406982	0.76273	T	0.373817	0.88309	D	0.299186	0.88160	D	0.996718227863312	0.89926	D	0.979102	0.92705	D	0.96330464	0.97610	0.91510737	0.96052	0.96330464	0.97611	0.91510737	0.96053	-13.645	0.92958	D	.	.	0.990	0.94772	P	.;.;.;.;.;.	.;.;.;.;.;.	5.359168	0.89874	31	0.99861860949694703	0.94002	0.97150	0.72983	D	AEFGBI	0.958522	0.97836	D	0.484938049483965	0.66209	4.920787	0.371285709758729	0.59799	4.161094	0.999184208293275	0.38681	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	5.3	4.12	0.47504	7.470000	0.79974	7.541000	0.60087	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0735:0.0:0.9265	10.963	0.46608	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	.	.	.	.	.	.	.	.	0.1429	33.22	37	chr13	113075997	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr13	113405984	113405984	A	C	exonic	LOC101928841	.	nonsynonymous SNV	LOC101928841:NM_001304433:exon2:c.T2206G:p.L736V,LOC101928841:NM_001375393:exon2:c.T2206G:p.L736V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	0.0006147	16	26028	rs539114127	0.0006	0.0005	0.0005	0.0007	0.0089	0.0006	0.0006	0.0063	0.0054	0.0002	0.0002	0.0249	0	0	0.0089	0.0002	0.0020	0	0.0009	0.0009	0.0009	0.0009	0.0005	0.0008	0.0007	0.0002	0.0002	4.809e-05	0	0.0005	0.0280	0	0	0.0068	0.0004	0.0014	0.0004	.	.	.	0.294	0.20745	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.01498	.	.	.	.	.	.	.	0.004081577	0.00080	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009308	0.08481	T	.	.	.	.	.	.	.	.	.	0.414759	0.10842	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.23605	B	.	.	0.171706	0.05604	2.059	0.48808034020543423	0.04104	0.04024	0.09458	N	AEBI	.	.	.	.	.	.	.	.	.	0.99986968291006	0.44398	0.080785	0.02172	0	0.096583	0.02683	0	0.074216	0.02223	0	0.062806	0.01542	0	0.0510583	0.10159	4.37	-3.03	0.05100	-0.632000	0.05587	-0.526000	0.08662	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3628:0.1481:0.3448:0.1442	1.662	0.02625	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	155.55	35	chr13	113405984	.	A	C	155.55	.	AC=2;AF=0.143;AN=14;DP=282;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=31.11;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,5:5:15:176,15,0	6	1	0	0
chr14	20034347	20034347	G	C	exonic	OR4K13	.	nonsynonymous SNV	OR4K13:NM_001004714:exon1:c.C412G:p.P138A	.	433	1044	44	1	0	46	0.0215558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	.	0.0065	0.00579073	0.0088	0.0016	0.0059	0.0001	0.0089	0.0098	0.0088	0.0158	0.0083375	1289	154602	rs140037435	0.0074	0.0074	0.0070	0.0079	0.0246	0.0073	0.0073	0.0213	0.0201	0.0021	0.0059	0.0075	5.038e-05	0.0093	0.0246	0.0070	0.0077	0.0169	0.0065	0.0065	0.0060	0.0071	0.0131	0.0062	0.0061	0.0105	0.0096	0.0025	0	0.0077	0.0086	0	0.0101	0.0136	0.0080	0.0123	0.0131	0.506	0.07594	T	0.499	0.11227	T	0.001	0.07471	B	0.002	0.06944	B	0.213433	0.16310	U	0.445574	1	0.08975	N	2.51	0.73131	M	6.89	0.00474	T	0.37	0.03639	N	0.113	0.10056	-0.9297	0.44183	T	0.001	0.00467	T	10	0.005253941	0.00115	T	.	.	.	0.099	0.28413	.	.	0.466398759226	0.46266	0.09936842455482309	0.09867	0.0317747987355	0.03293	0.166529595852	0.00021	T	0.001681	0.01111	T	-0.621796	0.00107	T	-0.652317	0.08793	T	0.0113371803637355	0.00168	T	0.138286	0.01102	T	0.06394648	0.13516	0.07882559	0.17691	0.06394648	0.13515	0.07882559	0.17691	-5.663	0.43363	T	.	.	0.119	0.24430	B	.;.;.	.;.;.	1.520134	0.19514	14.30	0.44548566857249378	0.03433	0.09521	0.15258	N	AEFGBI	0.067679	0.13317	N	-0.719005020069141	0.15489	0.7809694	-0.776225956251915	0.15079	0.7912289	9.31567096996979E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.6	3.6	0.40374	-0.048000	0.11898	-2.441000	0.03750	0.664000	0.56970	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7917:0.2083	9.683	0.39245	988	0.01987	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	0.019657	0.015152	0.019022	0.020468	0.000000	0.017241	0.024540	0.018939	0.1429	1002.24	33	chr14	20034347	.	G	C	1002.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.377;DP=270;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=-0.524;SOR=0.739	GT:AD:DP:GQ:PL	0/1:1,4:5:26:104,0,26	5	0	2	0
chr14	20060399	20060399	G	A	exonic	OR4L1	.	nonsynonymous SNV	OR4L1:NM_001004717:exon1:c.G355A:p.A119T	.	433	1043	44	2	0	48	0.022493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	.	0.0063	0.00479233	0.0089	0.0006	0.0059	0.0001	0.0089	0.0100	0.0079	0.0178	0.0082729	1279	154602	rs143026565	0.0075	0.0075	0.0070	0.0079	0.0254	0.0073	0.0073	0.0220	0.0208	0.0010	0.0059	0.0076	5.042e-05	0.0094	0.0254	0.0071	0.0076	0.0171	0.0062	0.0062	0.0056	0.0068	0.0129	0.0059	0.0057	0.0103	0.0094	0.0013	0	0.0075	0.0087	0	0.0102	0.0170	0.0080	0.0114	0.0129	0.0	0.91255	D	0.006	0.70582	D	0.999	0.77913	D	0.94	0.67560	D	0.000035	0.55875	D	0.000000	0.881307	0.35757	D	3.945	0.96414	H	0.59	0.53943	T	-3.4	0.67014	D	0.39	0.43126	0.111	0.84372	D	0.360	0.72186	T	10	0.008559376	0.00194	T	.	.	.	0.286	0.60456	.	.	0.837606238042	0.83606	0.14664065391702064	0.14586	0.0716432769509	0.08030	0.28809428215	0.08645	T	0.011748	0.10435	T	-0.238466	0.15545	T	-0.101036	0.63319	T	0.0508499382368578	0.05649	T	0.849215	0.53152	T	0.8905497	0.90554	0.832073	0.90320	0.8905497	0.90555	0.832073	0.90321	-9.221	0.69108	D	.	.	0.261	0.49586	B	.	.	4.345858	0.66707	25.0	0.99896933638575758	0.96971	0.97189	0.73214	D	AEFI	0.413116	0.48292	N	0.788998937138589	0.85411	8.568299	0.632162746140439	0.77289	6.650622	0.0929723915690901	0.16171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.18	4.18	0.48473	3.537000	0.53345	7.771000	0.68472	0.653000	0.53440	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.7905:0.2095	9.570	0.38589	988	0.01987	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017623	0.010101	0.014946	0.023392	0.000000	0.008621	0.027439	0.018939	0.2143	752.1	64	chr14	20060399	.	G	A	752.1	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.328;DP=443;ExcessHet=0;FS=0.942;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-3.011;SOR=0.667	GT:AD:DP:GQ:PL	1/1:0,3:3:9:89,9,0	5	1	1	0
chr14	24177205	24177205	A	C	exonic	REC8	.	nonsynonymous SNV	REC8:NM_001048205:exon8:c.A689C:p.E230A,REC8:NM_005132:exon9:c.A689C:p.E230A	.	421	1093	8	0	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00293767017641	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1004531135	0.0012	0.0012	0.0010	0.0013	0.0110	0.0011	0.0011	0.0101	0.0098	0.0012	0.0004	0.0004	0.0110	0.0002	0.0010	0.0007	0.0007	0.0044	0.0010	0.0010	0.0010	0.0010	0.0044	0.0009	0.0008	0.0030	0.0026	0.0012	0	0.0005	0.0014	0.0044	0	0	0.0007	0.0005	0.0042	.	.	.	0.058	0.46182	T	0.005	0.12996	B	0.005	0.11217	B	0.018154	0.27550	N	0.367956	0.999423	0.21215	N	.	.	.	.	.	.	.	.	.	0.39	0.43223	-1.0344	0.19046	T	0.037	0.16160	T	10	0.05203408	0.05174	T	0.002938	0.06250	T	.	.	.	.	0.043077524339	0.03247	0.420402663395183	0.41956	.	.	0.399052083492	0.24937	T	0.55507	0.85004	D	-0.0936255	0.37477	T	-0.372263	0.36624	T	0.456084311008453	0.31021	T	.	.	.	0.05018807	0.09028	0.055875212	0.09882	0.05018807	0.09028	0.055875212	0.09882	-3.867	0.21809	T	.	.	0.151	0.33800	B	.;.	.;.	3.706829	0.52895	23.3	0.98457824868193478	0.41699	0.69824	0.34342	D	AEFGBCI	0.100522	0.20211	N	-0.426166098191933	0.24556	1.326695	-0.281129554864127	0.28719	1.603506	0.999921430593149	0.46280	0.660377	0.49826	0	0.577304	0.33150	0	0.696353	0.63694	0	0.636168	0.56350	0	.	.	5.31	4.17	0.48303	4.006000	0.56798	7.003000	0.57203	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.756000	0.36000	0.9077:0.0:0.0923:0.0	7.794	0.28302	894	0.26265	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	67.44	34	chr14	24177205	.	A	C	67.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.792;DP=226;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=1.47;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,4:7:61:78,0,61	6	0	1	0
chr14	24336257	24336257	G	-	exonic	RIPK3	.	frameshift deletion	RIPK3:NM_006871:exon10:c.1475delC:p.P492Hfs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1261143835	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1061.18	71	chr14	24336256	.	TG	T	1061.18	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.276;DP=254;ExcessHet=0.3476;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=0;SOR=0.616	GT:AD:DP:GQ:PL	0/1:2,2:4:52:52,0,52	6	0	1	0
chr14	24336257	24336257	G	0	exonic	RIPK3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2686.64	35	chr14	24336257	.	G	*	2686.64	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.52;DP=389;ExcessHet=1.1394;FS=1.544;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=-0.031;SOR=0.732	GT:AD:DP:GQ:PL	0/1:2,2:4:52:52,0,52	6	0	1	0
chr14	44934542	44934542	G	A	exonic	KLHL28	.	nonsynonymous SNV	KLHL28:NM_001308112:exon3:c.C958T:p.P320S,KLHL28:NM_017658:exon3:c.C916T:p.P306S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.514	0.0420949397803	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224373110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.646	0.04912	T	0.43	0.13713	T	0.787	0.44504	P	0.158	0.34617	B	0.000000	0.84330	D	0.048392	1	0.81001	D	3.135	0.88152	M	-0.97	0.75670	T	-1.57	0.43906	N	0.766	0.76573	-0.1446	0.79052	T	0.376	0.73423	T	10	0.7711235	0.77091	D	0.042095	0.60282	D	0.514	0.79217	0.508	0.60386	0.859905932731	0.85855	0.8393798456999656	0.83897	0.732840160607	0.62809	0.769111454487	0.77291	T	0.082478	0.36836	T	0.229494	0.76673	D	0.0918759	0.76371	D	0.979874908924103	0.73059	D	0.907909	0.67446	D	0.19502926	0.41275	0.22045027	0.46821	0.19502926	0.41275	0.22045027	0.46820	-7.482	0.57484	T	.	.	0.678	0.72042	P	.;.	.;.	4.107532	0.61298	24.3	0.99351796903171163	0.60615	0.98694	0.85672	D	AEFBI	0.831890	0.75035	D	0.597634821718804	0.73026	5.899435	0.657861563910108	0.79197	7.031849	0.999999999822534	0.74766	0.651	0.46895	0	0.653731	0.59785	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	5.38	5.38	0.77279	9.337000	0.96437	11.626000	0.93661	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.084	0.93177	816	0.41767	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	22	chr14	44934542	.	G	A	33.22	.	AC=2;AF=0.143;AN=14;DP=182;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr14	52613695	52613695	T	A	exonic	GPR137C	.	nonsynonymous SNV	GPR137C:NM_001353361:exon4:c.T742A:p.W248R	.	434	1077	11	0	0	11	0.00508083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	.	0.000199681	0.0275	.	.	0	.	0	0	0.0536	0.0001617	25	154602	rs536981987	0.0009	0.0005	0.0005	0.0011	0.0038	0.0007	0.0007	0.0031	0.0029	0	0.0004	0	0	0.0002	0.0005	0.0002	0.0011	0.0038	0.0002	0.0002	0.0002	0.0003	0.0027	0.0002	0.0001	0.0016	0.0013	4.809e-05	0	0.0007	0	0	0	0	8.819e-05	0.0005	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.23	8	chr14	52613695	.	T	A	33.23	.	AC=2;AF=0.143;AN=14;DP=133;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr14	61740857	61740857	G	A	exonic	HIF1A	.	nonsynonymous SNV	HIF1A:NM_001243084:exon12:c.G1834A:p.A612T,HIF1A:NM_001530:exon12:c.G1762A:p.A588T,HIF1A:NM_181054:exon12:c.G1762A:p.A588T	.	423	1095	3	1	0	5	0.0022779	.	.	.	2844278	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.036	.	0.0061	0.00898562	0.0097	0.0013	0.0010	0.0391	0.0174	0.0101	0.0055	0.0017	0.0089391	1382	154602	rs11549467	0.0079	0.0079	0.0077	0.0080	0.0416	0.0078	0.0077	0.0399	0.0392	0.0008	0.0014	0.0049	0.0416	0.0166	0.0012	0.0074	0.0065	0.0018	0.0074	0.0074	0.0069	0.0078	0.0398	0.0070	0.0069	0.0353	0.0336	0.0011	0	0.0015	0.0058	0.0398	0.0160	0.0034	0.0094	0.0038	0.0017	0.373	0.17761	T	0.622	0.15010	T	0.0	0.02946	B	0.001	0.04355	B	0.096302	0.02504	N	1.805430	1	0.08975	N	-0.695	0.01866	N	0.9	0.45248	T	-0.16	0.11728	N	0.03	0.00882	-1.0768	0.07983	T	0.013	0.05177	T	10	0.0013724267	0.00015	T	.	.	.	0.036	0.09122	.	.	0.243187853663	0.23924	0.06853689616802514	0.06791	0.116913824884	0.13183	0.289541661739	0.08855	T	0.317837	0.68926	T	-0.738309	0.00021	T	-0.790812	0.02142	T	0.0023407958452407	0.00024	T	0.731327	0.34690	T	0.03326054	0.03508	0.03746933	0.03407	0.03326054	0.03508	0.03746933	0.03407	-3.478	0.16125	T	.	.	0.065	0.03336	B	.;.;.;.;.	.;.;.;.;.	-0.079541	0.03764	0.786	0.80251036502772854	0.13115	0.13353	0.17808	N	AEFDGBCI	0.140323	0.26219	N	-1.47577593740174	0.02022	0.08885738	-1.48000398441308	0.02509	0.1154857	0.999999999999117	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.51	-9.51	0.00489	-1.255000	0.02981	-0.180000	0.11141	-0.201000	0.08892	0.000000	0.06391	0.022000	0.20871	0.940000	0.48062	0.1653:0.0745:0.2916:0.4686	3.296	0.06555	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	0.003021	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.007576	0.1429	218.21	35	chr14	61740857	.	G	A	218.21	.	AC=2;AF=0.143;AN=14;DP=221;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=24.25;SOR=0.892	GT:AD:DP:GQ:PL	1/1:0,9:9:27:239,27,0	6	1	0	0
chr14	64158707	64158707	T	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.T15875C:p.M5292T,SYNE2:NM_182914:exon86:c.T15875C:p.M5292T	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00538161103081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245310548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.099	0.45039	T	0.026	0.60972	D	0.013	0.16609	B	0.009	0.14300	B	0.041119	0.23984	N	0.401918	0.999988	0.54805	D	1.655	0.42436	L	1.39	0.33842	T	-2.65	0.59710	D	0.474	0.55280	-1.0841	0.06572	T	0.073	0.29675	T	10	0.19718808	0.35641	T	0.005382	0.13801	T	0.143	0.38195	0.536	0.64585	0.319402600006	0.31557	0.3253330187294607	0.32446	0.0539322971594	0.05956	0.529864430428	0.43015	T	0.035396	0.50140	T	-0.123387	0.32572	T	-0.415013	0.31648	T	0.172842237501572	0.18771	T	0.611639	0.23235	T	0.08136348	0.18690	0.15216553	0.35812	0.08136348	0.18690	0.15216553	0.35811	-3.679	0.21014	T	.	.	0.191	0.41000	B	.;.;.;.;.	.;.;.;.;.	1.354212	0.17625	13.27	0.893201424526746	0.18696	0.58238	0.30589	D	AEFGBI	0.052091	0.09265	N	-0.429603788888434	0.24437	1.31946	-0.336983711819935	0.26915	1.489921	0.0805734006329366	0.15850	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	3.35	0.37468	0.797000	0.26660	0.426000	0.18273	0.661000	0.55757	1.000000	0.71638	0.995000	0.32472	1.000000	0.97212	0.0:0.0746:0.1466:0.7788	7.200	0.25051	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	1374.13	79	chr14	64158707	.	T	C	1374.13	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.054;DP=715;ExcessHet=4.7409;FS=173.002;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=3.05;ReadPosRankSum=1.38;SOR=10.021	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,2:4:52:0|1:64158707_T_C:64,0,52:64158707	2	0	5	0
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	.	.	.	.	.	.	.	.	0.07143	1271.28	79	chr14	64158708	.	G	C	1271.28	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.023;DP=596;ExcessHet=4.7409;FS=185.58;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=2.83;ReadPosRankSum=-0.124;SOR=9.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,2:4:52:0|1:64158707_T_C:64,0,52:64158707	6	0	1	0
chr14	64487711	64487711	T	C	exonic	ZBTB25	.	nonsynonymous SNV	ZBTB25:NM_001354683:exon3:c.A520G:p.I174V,ZBTB25:NM_006977:exon3:c.A520G:p.I174V,ZBTB25:NM_001354682:exon4:c.A637G:p.I213V,ZBTB25:NM_001354684:exon4:c.A520G:p.I174V,ZBTB25:NM_001354687:exon4:c.A520G:p.I174V,ZBTB25:NM_001354685:exon5:c.A520G:p.I174V,ZBTB25:NM_001304507:exon6:c.A520G:p.I174V,ZBTB25:NM_001354686:exon6:c.A520G:p.I174V	.	430	1088	4	0	0	4	0.00183486	.	.	.	2431964	not_specified|ZBTB25-related_disorder	MedGen:CN169374|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.085	0.00552907902172	0.0003	0.000199681	0.0002	0	8.645e-05	0	0	0.0004	0.0022	0	0.000207	32	154602	rs145365297	0.0002	0.0002	0.0002	0.0001	0.0014	0.0001	0.0001	0.0007	0.0005	2.99e-05	0.0001	0.0048	0	0	0.0014	5.127e-05	0.0005	0	0.0001	0.0001	0.0001	0.0001	5.883e-05	7.092e-05	5.748e-05	1.973e-05	1.125e-05	2.408e-05	0	0	0.0035	0	0	0	5.883e-05	0	0	0.583	0.05936	T	0.794	0.04142	T	0.274	0.31856	B	0.069	0.27757	B	0.000005	0.62929	D	0.142974	0.990253	0.81001	D	2.135	0.59519	M	2.04	0.20808	T	0.07	0.06138	N	0.148	0.32259	-1.0585	0.12134	T	0.036	0.15509	T	10	0.008193225	0.00186	T	0.005529	0.14258	T	0.085	0.24743	.	.	0.27479166964	0.27093	0.08553152323367685	0.08487	0.101844781819	0.11526	0.393193513155	0.24119	T	0.010026	0.09088	T	-0.370422	0.03572	T	-0.514816	0.20821	T	0.0640436127250503	0.07789	T	0.810819	0.46223	T	0.032563902	0.03305	0.07564778	0.16675	0.032563902	0.03305	0.07564778	0.16674	-1.968	0.03062	T	.	.	0.096	0.15341	B	.;.	.;.	2.453419	0.31592	18.79	0.89826814801461852	0.19136	0.88913	0.49076	D	AEFGBHI	.	.	.	-0.0593581878046551	0.39185	2.306782	0.155892702353315	0.47454	2.975484	0.999935330366907	0.46732	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.491896	0.07777	0	.	.	6.04	6.04	0.98025	4.436000	0.59691	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.576	0.84499	371	0.84287	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.1429	56.0	33	chr14	64487711	.	T	C	56.0	.	AC=2;AF=0.143;AN=14;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=18.67;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,3:3:9:74,9,0	6	1	0	0
chr14	96341592	96341592	A	G	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon6:c.T854C:p.I285T	.	.	.	.	.	.	.	.	.	.	.	3921827	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.474	0.0142357390461	.	.	8.282e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs749912321	3.919e-05	3.967e-05	3.557e-05	4.285e-05	4.876e-05	3.063e-05	2.797e-05	3.819e-05	3.421e-05	3e-05	0	0	0	0	0	4.876e-05	3.332e-05	0	1.971e-05	1.97e-05	0	4.035e-05	7.241e-05	5.24e-06	2.45e-06	1.92e-05	1.032e-05	7.241e-05	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.005	0.72224	D	0.919	0.50927	P	0.324	0.41853	B	0.000422	0.44522	U	0.147160	0.999535	0.47451	D	2.585	0.75554	M	2.6	0.13204	T	-3.77	0.71397	D	0.89	0.88909	-1.1554	0.00873	T	0.040	0.17063	T	10	0.78096986	0.77850	D	0.014236	0.34223	T	0.474	0.76685	.	.	0.495238560318	0.49160	0.7338751308144992	0.73332	0.731342445777	0.62740	0.641583442688	0.58789	T	0.068482	0.33469	T	0.0919221	0.63406	D	0.0764102	0.75339	D	0.910641074180603	0.56595	D	0.907609	0.67324	D	0.4345681	0.63050	0.51512665	0.71983	0.4345681	0.63051	0.51512665	0.71984	-8.304	0.63122	D	.	.	0.213	0.44135	B	.	.	3.871718	0.56212	23.7	0.99865712561020503	0.94366	0.98977	0.89442	D	AEFBI	0.848187	0.76503	D	0.559591130757075	0.70667	5.535509	0.645441569655534	0.78272	6.842846	0.999999694708181	0.74766	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	6.04	6.04	0.98025	8.947000	0.92735	11.120000	0.86527	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	1.0:0.0:0.0:0.0	16.588	0.84597	961	0.08552	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr14	96341592	.	A	G	33.22	.	AC=2;AF=0.143;AN=14;DP=200;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr14	102870235	102870235	G	A	exonic	TRAF3	.	nonsynonymous SNV	TRAF3:NM_001199427:exon2:c.G34A:p.A12T,TRAF3:NM_003300:exon2:c.G34A:p.A12T,TRAF3:NM_001385142:exon3:c.G34A:p.A12T,TRAF3:NM_001385143:exon3:c.G34A:p.A12T,TRAF3:NM_145725:exon3:c.G34A:p.A12T,TRAF3:NM_145726:exon3:c.G34A:p.A12T	.	420	1100	2	0	0	2	0.000908265	.	.	.	841078	not_specified|Herpes_simplex_encephalitis,_susceptibility_to,_3	MedGen:CN169374|MONDO:MONDO:0013920,MedGen:C3553868,OMIM:614849,Orphanet:1930	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.033	0.00511990783726	0.0002	.	0.0004	9.626e-05	8.642e-05	0	0.0002	0.0005	0.0011	0.0004	0.0002975	46	154602	rs139127242	0.0004	0.0004	0.0004	0.0004	0.0008	0.0004	0.0004	0.0006	0.0006	5.974e-05	0.0001	0	7.557e-05	0.0007	0.0007	0.0004	0.0007	0.0008	0.0002	0.0002	0.0002	0.0002	0.0008	0.0002	0.0002	0.0003	0.0002	2.408e-05	0	6.541e-05	0	0	0.0002	0	0.0004	0.0005	0.0008	1.0	0.02102	T	0.411	0.14500	T	0.0	0.02946	B	0.0	0.04355	B	0.000012	0.00162	N	4.603210	1	0.08975	N	-0.69	0.01958	N	2.25	0.44461	T	-0.22	0.15178	N	0.04	0.05414	-1.0202	0.23649	T	0.044	0.18906	T	10	0.013813674	0.00292	T	0.00512	0.13001	T	0.033	0.08068	.	.	0.298199939746	0.29431	0.34357753242507116	0.34271	0.548579291965	0.51791	0.260190844536	0.04913	T	0.049022	0.28186	T	-0.665967	0.00058	T	-0.833598	0.01200	T	0.0177662698905639	0.00505	T	0.482252	0.16835	T	0.017730193	0.00298	0.037583392	0.03441	0.017730193	0.00298	0.037583392	0.03440	-3.426	0.15408	T	.	.	0.062	0.02370	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.074925	0.00085	0.002	0.75238034046729552	0.10997	0.02300	0.06612	N	AEFDBI	0.038514	0.05460	N	-2.79541388889422	0.00003	0.0001395892	-2.88425132596484	0.00002	0.0001275785	0.999999999999999	0.74766	0.732398	0.92422	0	0.698795	0.70079	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.2	-10.4	0.00257	-4.034000	0.00349	-4.956000	0.01911	-3.847000	0.00056	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0793:0.2265:0.4404:0.2539	6.39	0.20784	506	0.75555	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	61.44	34	chr14	102870235	.	G	A	61.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.967;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.48;ReadPosRankSum=-0.967;SOR=1.179	GT:AD:DP:GQ:PL	0/1:1,2:3:26:72,0,26	6	0	1	0
chr14	103135891	103135891	G	A	exonic	TNFAIP2	.	nonsynonymous SNV	TNFAIP2:NM_001371220:exon13:c.G2039A:p.R680H,TNFAIP2:NM_001371221:exon13:c.G2039A:p.R680H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00192151762021	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs760129248	1.143e-05	1.163e-05	1.38e-05	8.959e-06	0.0002	6.38e-06	4.91e-06	4.36e-06	2.03e-06	0	0	0	0	0	0.0002	7.599e-06	7.217e-05	2.625e-05	5.254e-05	5.253e-05	0.0001	0	0.0001	2.556e-05	1.829e-05	4.737e-05	3.052e-05	0.0001	0	0	0	0	0	0	4.409e-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	.	.	.	.	.	.	.	.	0.07143	40.44	33	chr14	103135891	.	G	A	40.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.29;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.04;ReadPosRankSum=0.253;SOR=0.693	GT:AD:DP:GQ:PL	0/1:8,2:10:51:51,0,168	6	0	1	0
chr14	103975464	103975464	A	T	exonic	TDRD9	.	nonsynonymous SNV	TDRD9:NM_153046:exon7:c.A922T:p.N308Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00905869469303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.992	0.01958	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.070837	0.21513	N	0.418384	0.999978	0.53665	D	0.345	0.11182	N	3.96	0.03354	T	-1.7	0.40468	N	0.195	0.32037	-0.9138	0.46377	T	0.011	0.04042	T	10	0.1316993	0.25066	T	0.009059	0.23845	T	0.080	0.23350	0.56	0.67958	0.461495907335	0.45776	0.6234781595387012	0.62280	0.255256795125	0.28113	0.314108073711	0.12528	T	0.03357	0.22968	T	-0.2074	0.19747	T	-0.535692	0.18722	T	0.670484781265259	0.39359	D	0.659134	0.27736	T	0.089210406	0.20838	0.123806305	0.29850	0.089210406	0.20837	0.123806305	0.29849	-7.851	0.60050	D	.	.	0.074	0.05145	B	.;.	.;.	2.896287	0.38372	20.7	0.9751300628496945	0.34363	0.95834	0.66353	D	AEFDI	0.670634	0.63765	D	-0.105111190330733	0.37170	2.158667	0.0758996538476638	0.43340	2.637777	0.992606967457962	0.32901	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.16	5.16	0.70563	5.013000	0.63783	9.173000	0.79043	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.8592:0.0:0.0:0.1408	10.870	0.46084	465	0.78421	Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr14	103975464	.	A	T	33.22	.	AC=2;AF=0.143;AN=14;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr14	104594306	104594306	C	G	exonic	TMEM179	.	nonsynonymous SNV	TMEM179:NM_001286390:exon4:c.G612C:p.K204N	.	511	1007	4	0	0	4	0.00198216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00119808	.	.	.	.	.	.	.	.	0.0013447	35	26028	rs61745821	0.0009	0.0007	0.0009	0.0009	0.0124	0.0008	0.0008	0.0092	0.0081	0.0006	0.0002	0.0191	0	0	0.0124	0.0006	0.0022	0.0010	0.0009	0.0009	0.0009	0.0009	0.0007	0.0008	0.0007	0.0005	0.0005	0.0002	0	0.0005	0.0176	0	0	0.0205	0.0007	0.0033	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.123	0.11483	.	.	.	.	.	.	.	0.0077750683	0.00177	T	.	.	.	.	.	.	.	0.110078149338	0.10416	.	.	.	.	.	.	.	.	.	.	-0.737734	0.00021	T	-0.906594	0.00457	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.46505	B	.	.	0.765788	0.11358	7.973	0.47864348023927489	0.03948	0.01051	0.03915	N	AEFDBI	.	.	.	.	.	.	.	.	.	6.97415211356231E-4	0.07645	0.055982	0.00716	0	0.059962	0.00310	0	0.072005	0.02045	0	0.062806	0.01542	0	0.0498113	0.09340	2.49	-0.616	0.11002	0.364000	0.20053	-1.724000	0.04844	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4834:0.2281:0.2885	3.142	0.06072	862	0.33134	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	60.44	33	chr14	104594306	.	C	G	60.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.385;DP=238;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=1.44;SOR=0.991	GT:AD:DP:GQ:PL	0/1:3,3:6:71:71,0,73	6	0	1	0
chr14	104950043	104950043	A	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T5108C:p.V1703A,AHNAK2:NM_138420:exon7:c.T5408C:p.V1803A	.	440	1056	25	1	0	27	0.0126227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	.	0.00958466	0.0009	0.0049	0.0005	0.0014	0	0.0003	0.0023	0.0010	0.0012613	195	154602	rs145652874	0.0009	0.0026	0.0009	0.0009	0.0159	0.0009	0.0008	0.0148	0.0143	0.0159	0.0020	0.0002	0.0020	0.0002	0.0032	0.0003	0.0019	0.0015	0.0071	0.0099	0.0075	0.0068	0.0241	0.0068	0.0066	0.0228	0.0222	0.0241	0	0.0037	0	0.0021	0	0.0072	0.0004	0.0082	0.0005	0.823	0.02936	T	0.538	0.09829	T	0.01	0.15535	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-1.23	0.00807	N	5.95	0.00612	T	0.83	0.01787	N	0.023	0.00407	-0.9457	0.41698	T	0.000	0.00075	T	9	0.0042342544	0.00085	T	.	.	.	0.014	0.01968	.	.	0.0138822411134	0.00435	0.003104252817684476	0.00289	.	.	0.205832988024	0.00647	T	0.016131	0.13395	T	-0.741744	0.00020	T	-0.819986	0.01452	T	0.0039249460276532	0.00042	T	0.174383	0.01678	T	0.016648958	0.00212	0.028164823	0.01028	0.016648958	0.00212	0.028164823	0.01028	0.606	0.00192	T	.	.	0.074	0.05231	B	.	.	-1.605512	0.00237	0.004	0.24895953066776089	0.01122	0.00079	0.00540	N	AEFBI	.	.	.	-2.08541276212991	0.00138	0.005898899	-2.17211708655396	0.00129	0.005680874	0.00857578015082789	0.11701	0.67177	0.52595	0	0.588015	0.36545	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	2.02	-4.05	0.03730	-5.785000	0.00119	-12.495000	0.00521	-2.579000	0.00240	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4939:0.1884:0.3176:0.0	3.928	0.08771	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010787	0.036082	0.001362	0.008333	0.000000	0.008621	0.013072	0.003846	0.07143	98.44	136	chr14	104950043	.	A	G	98.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.043;DP=1087;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=58.32;MQRankSum=-6.192;QD=2.46;ReadPosRankSum=-2.451;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,6:40:99:0|1:104950030_A_C:109,0,1399:104950030	6	0	1	0
chr14	104953797	104953797	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G1354A:p.D452N,AHNAK2:NM_138420:exon7:c.G1654A:p.D552N	.	411	1040	68	3	0	74	0.0343547	.	.	.	2807606	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.019	.	0.0069	0.00798722	0.0082	0.0015	0.0071	0	0.0005	0.0101	0.0111	0.0130	0.0078718	1217	154602	rs45448397	0.0073	0.0073	0.0069	0.0077	0.0406	0.0072	0.0071	0.0363	0.0347	0.0022	0.0066	0.0321	7.557e-05	0.0007	0.0406	0.0066	0.0105	0.0137	0.0067	0.0067	0.0067	0.0066	0.0110	0.0063	0.0062	0.0097	0.0092	0.0018	0	0.0110	0.0343	0.0006	0.0006	0.0306	0.0083	0.0114	0.0104	0.842	0.02796	T	0.408	0.14633	T	0.021	0.18474	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	0	0.06538	N	4.03	0.03149	T	-0.08	0.08187	N	0.1	0.08227	-0.9097	0.46891	T	0.003	0.00832	T	9	0.0041176975	0.00081	T	.	.	.	0.019	0.03383	.	.	0.0297737177859	0.01360	0.0316760095331914	0.03116	.	.	0.185123771429	0.00150	T	0.022655	0.17431	T	-0.727118	0.00025	T	-0.8062	0.01752	T	0.00461407943591834	0.00049	T	0.309269	0.05988	T	0.016435066	0.00197	0.024356974	0.00454	0.016435066	0.00197	0.024356974	0.00454	-4.588	0.32020	T	.	.	0.109	0.20934	B	.	.	-0.342790	0.02437	0.277	0.97984752298087319	0.37356	0.08243	0.14197	N	AEFDBI	0.071796	0.14307	N	-1.45363581998287	0.02188	0.09635179	-1.48412917277304	0.02474	0.1138519	0.07631154992444	0.15723	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.96	-3.51	0.04397	-1.192000	0.03161	-2.796000	0.03352	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.105:0.2143:0.4064:0.2743	3.143	0.06076	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.031219	0.000000	0.031250	0.058480	0.150000	0.060345	0.021341	0.026515	0.1429	1820.24	159	chr14	104953797	.	C	T	1820.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.66;DP=663;ExcessHet=0.3476;FS=1.936;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=0.389;SOR=0.872	GT:AD:DP:GQ:PL	0/1:8,3:11:85:85,0,199	5	0	2	0
chr15	22081297	22081297	T	C	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.T673C:p.F225L	.	540	106	147	729	0	1605	0.883324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	.	.	.	0.9050	0.7710	0.9468	0.9535	0.9317	0.9220	0.9117	0.8549	0.780262	120630	154602	rs491208	0	5.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000844	0.41440	N	0.000000	1	0.08975	P	-2.445	0.00066	N	.	.	.	.	.	.	0.024	0.00445	-0.9717	0.36841	T	0.000	0.00011	T	9	7.2730036e-05	0.00009	T	.	.	.	.	.	0.54	0.65161	.	.	0.19599440268041618	0.19516	.	.	.	.	.	0.00272	0.02115	T	-0.672873	0.00053	T	-0.702807	0.05673	T	0.00771905005910873	0.00090	T	0.142386	0.01156	T	0.07985808	0.18268	0.08259106	0.18862	0.07985808	0.18267	0.08259106	0.18861	0.242	0.00274	T	.	.	0.245	0.47901	B	.	.	1.048175	0.14294	10.87	0.73235698812529659	0.10255	0.01725	0.05460	N	AEFGBCI	.	.	.	-1.86751014071891	0.00400	0.01720119	-1.75517952119794	0.00914	0.04088312	0.944484955208236	0.27617	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	0.487	0.16050	-0.893000	0.04234	-0.516000	0.08717	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4472:0.0:0.5528	6.210	0.19834	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.865792	0.833333	0.845109	0.862573	0.900000	0.887931	0.920732	0.867424	0.8571	7281.9	27	chr15	22081297	.	T	C	7281.9	.	AC=12;AF=0.857;AN=14;BaseQRankSum=8.72;DP=836;ExcessHet=0.3476;FS=134.374;MLEAC=12;MLEAF=0.857;MQ=46.84;MQRankSum=-7.545;QD=9.34;ReadPosRankSum=0.422;SOR=7.264	GT:AD:DP:GQ:PL	1/1:0,2:2:6:74,6,0	0	5	2	0
chr15	27519984	27519984	T	C	exonic	GABRG3	.	nonsynonymous SNV	GABRG3:NM_033223:exon7:c.T725C:p.V242A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.451	0.0773264377094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.044	0.49663	D	0.163	0.28433	B	0.33	0.42079	B	0.003664	0.34636	N	0.277091	0.998978	0.45795	D	1.97	0.53315	M	-1.17	0.78199	T	-3.49	0.68056	D	0.648	0.65930	-0.1092	0.79886	T	0.474	0.79800	T	10	0.7947922	0.78972	D	0.077326	0.72744	D	0.634	0.85975	0.597	0.72739	0.718253882294	0.71577	0.809673562310199	0.80922	0.882652438319	0.69826	0.814315915108	0.84155	D	0.422946	0.77386	T	0.0942297	0.63662	D	-0.102422	0.63211	T	0.991283178329468	0.81561	D	0.929607	0.73996	D	0.6496237	0.75343	0.656249	0.79872	0.6496237	0.75345	0.656249	0.79873	-9.859	0.73063	D	.	.	0.443	0.67560	A	.;.;.	.;.;.	4.246923	0.64428	24.7	0.99628284238182241	0.75898	0.97503	0.75172	D	AEFGBI	0.871173	0.79243	D	0.315115024971334	0.56925	3.858048	0.430896454192652	0.63498	4.584847	0.999997084445232	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.35	5.35	0.76297	7.719000	0.83716	7.884000	0.72673	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.663	0.68492	988	0.01987	Neurotransmitter-gated ion-channel ligand-binding domain;Neurotransmitter-gated ion-channel ligand-binding domain;Neurotransmitter-gated ion-channel ligand-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr15	27519984	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=189;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr15	28022561	28022561	G	C	exonic	OCA2	.	nonsynonymous SNV	OCA2:NM_000275:exon6:c.C586G:p.L196V,OCA2:NM_001300984:exon6:c.C586G:p.L196V	Albinism, brown oculocutaneous, Autosomal recessive;Albinism, oculocutaneous, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.00961356357669	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.46129	T	0.139	0.92824	T	0.51	0.37313	P	0.149	0.34106	B	0.001635	0.38439	N	0.251661	0.906065	0.27604	N	2.38	0.68558	M	0.01	0.62459	T	-0.37	0.29323	N	0.355	0.40063	-0.9951	0.31272	T	0.148	0.47308	T	10	0.24835327	0.42131	T	0.009614	0.25130	T	0.073	0.21317	0.362	0.36711	0.579757117833	0.57647	0.47673000892665995	0.47593	0.130327484436	0.14699	0.376181662083	0.21714	T	0.197223	0.55383	T	-0.0795294	0.39790	T	-0.352015	0.38973	T	0.651706695556641	0.38535	D	0.748825	0.42665	T	0.049560938	0.08819	0.053655542	0.09079	0.049560938	0.08819	0.053655542	0.09079	-5.053	0.50755	T	0.12124467306777613	0.11487	0.097	0.29116	B	.;.;.	.;.;.	2.162644	0.27555	17.50	0.99221921161575199	0.55932	0.84989	0.44088	D	AEFDBHI	0.691528	0.65149	D	-0.0643338035013437	0.38964	2.290329	0.000741057116953853	0.39750	2.361686	0.978040616955769	0.29881	0.553676	0.25195	0	0.588015	0.36545	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	4.84	2.81	0.31971	4.093000	0.57440	3.119000	0.36392	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1029:0.0:0.6011:0.2959	5.276	0.14963	940	0.13648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	83.44	35	chr15	28022561	.	G	C	83.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.65;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.69;ReadPosRankSum=-1.645;SOR=1.179	GT:AD:DP:GQ:PL	0/1:2,3:5:34:94,0,34	6	0	1	0
chr15	39582451	39582451	G	A	exonic	THBS1	.	nonsynonymous SNV	THBS1:NM_003246:exon3:c.G326A:p.R109Q	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0022739924585	.	.	7.442e-05	0	0	0	0	9.03e-05	0	0.0002	5.82e-05	9	154602	rs760740907	5.336e-05	5.404e-05	3.131e-05	7.563e-05	0.0003	4.344e-05	4.017e-05	0.0002	0.0002	8.961e-05	8.944e-05	0.0003	2.519e-05	0	0.0003	2.698e-05	0.0001	0.0003	2.626e-05	2.625e-05	0	5.37e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.996e-05	0	0	0	0.0003	0	0	0	0	0	0.0006	0.22	0.18956	T	0.166	0.30828	T	0.005	0.12996	B	0.0	0.01387	B	0.004971	0.33218	N	0.000000	0.650671	0.32960	D	1.5	0.37844	L	4.43	0.02158	T	-0.41	0.14000	N	0.212	0.23632	-1.0296	0.20583	T	0.009	0.03011	T	10	0.08960965	0.15538	T	0.002274	0.04342	T	0.063	0.18251	.	.	0.221890330934	0.21812	0.6158812582087415	0.61520	0.501067798211	0.48504	0.336213439703	0.15870	T	0.187385	0.54097	T	-0.398812	0.02357	T	-0.536342	0.18658	T	0.077579140663147	0.09675	T	0.89491	0.63503	D	0.1914333	0.40770	0.11592842	0.27985	0.1914333	0.40770	0.11592842	0.27984	-4.366	0.29092	T	.	.	0.082	0.08851	B	.	.	3.141561	0.42488	21.5	0.99856911964105555	0.93548	0.40001	0.26339	N	AEFDBHCI	0.147263	0.27090	N	-0.06665032343	0.38862	2.282684	0.0998808446085895	0.44544	2.734033	0.999999944874239	0.74766	0.675202	0.55065	0	0.563428	0.19063	0	0.696144	0.63334	0	0.756233	0.99697	0	.	.	5.28	4.29	0.50359	2.110000	0.41497	1.756000	0.28514	0.676000	0.76740	0.996000	0.39380	0.970000	0.29701	0.998000	0.85391	0.1353:0.0:0.8647:0.0	11.654	0.50567	876	0.30350	Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	130.44	33	chr15	39582451	.	G	A	130.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.92;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=0.549;SOR=0.883	GT:AD:DP:GQ:PL	0/1:7,5:12:99:141,0,147	6	0	1	0
chr15	42688467	42688467	C	G	exonic	STARD9	.	nonsynonymous SNV	STARD9:NM_020759:exon23:c.C6889G:p.P2297A	.	436	1079	7	0	0	7	0.00323326	.	.	.	2352171	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.086	0.0538015949452	.	.	0.0005	0	0	0	0	0.0001	0	0.0011	6.47e-05	10	154602	rs757144254	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0010	0.0009	3.165e-05	0	0	0	0	0.0014	0.0001	0.0002	0.0012	8.541e-05	8.537e-05	7.708e-05	9.413e-05	0.0004	4.957e-05	3.962e-05	7.907e-05	5.993e-05	0	0	6.545e-05	0	0	0	0	0.0001	0	0.0004	0.01	0.56456	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.975	0.24501	L	-0.27	0.67367	T	-1.79	0.42191	N	0.087	0.06454	-0.8432	0.52433	T	0.208	0.56717	T	7	0.017328233	0.00369	T	0.053802	0.65612	D	0.086	0.25016	.	.	0.128392430309	0.12331	0.06477959335402166	0.06416	.	.	0.24175670743	0.02950	T	0.014199	0.12131	T	-0.463001	0.00941	T	-0.478378	0.24618	T	0.0404876108298372	0.03778	T	0.472753	0.14054	T	0.03967643	0.05524	0.0451065	0.05996	0.03967643	0.05524	0.0451065	0.05996	-4.497	0.30849	T	.	.	0.132	0.28464	B	.	.	-0.612408	0.01538	0.100	0.98343863493063177	0.40467	0.08556	0.14469	N	ALL	0.034529	0.04293	N	-0.677575427276569	0.16662	0.8508778	-0.785685379194216	0.14846	0.7778395	0.999972606189731	0.50053	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.553451	0.17756	0	.	.	5.94	0.557	0.16448	-1.005000	0.03785	-2.169000	0.04112	-0.313000	0.06017	0.000000	0.06391	0.000000	0.08366	0.225000	0.22599	0.1354:0.5065:0.1314:0.2267	2.164	0.03597	91	0.96221	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	293.44	40	chr15	42688467	.	C	G	293.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.573;DP=371;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.44;ReadPosRankSum=-1.611;SOR=0.385	GT:AD:DP:GQ:PL	0/1:8,11:19:99:304,0,243	6	0	1	0
chr15	43361609	43361609	C	T	exonic	ZSCAN29	.	nonsynonymous SNV	ZSCAN29:NM_152455:exon5:c.G2023A:p.E675K,ZSCAN29:NM_001372080:exon6:c.G2023A:p.E675K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.00737647846586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.004	0.74150	D	0.864	0.47514	P	0.89	0.63157	P	0.000044	0.53742	D	0.000000	0.997812	0.81001	D	1.005	0.25186	L	1.86	0.24285	T	-2.69	0.62151	D	0.472	0.66443	-0.9823	0.34468	T	0.130	0.43948	T	10	0.47418347	0.60044	T	0.007376	0.19576	T	0.178	0.44724	0.563	0.68364	0.579957930997	0.57666	0.17034625035250406	0.16954	0.512096811149	0.49265	0.627189159393	0.56746	T	0.196954	0.55348	T	0.0485449	0.58156	T	-0.168045	0.57621	T	0.938745260238647	0.60962	D	0.648535	0.25952	T	0.33884132	0.56187	0.3291035	0.58793	0.33884132	0.56187	0.3291035	0.58792	-4.847	0.35134	T	.	.	0.203	0.42749	B	.;.	.;.	4.236664	0.64195	24.7	0.99917740343350503	0.98518	0.14651	0.18515	N	AEFDGBHCI	0.601473	0.59370	D	0.58908274078088	0.72493	5.814383	0.583773194073677	0.73776	6.026228	0.999999997948925	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.57	4.57	0.55860	5.949000	0.69973	5.682000	0.49299	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:1.0:0.0:0.0	15.243	0.73177	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	.	.	.	.	.	.	.	.	0.07143	68.44	33	chr15	43361609	.	C	T	68.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.15;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.11;ReadPosRankSum=1.15;SOR=0.916	GT:AD:DP:GQ:PL	0/1:1,3:4:31:79,0,31	6	0	1	0
chr15	57523567	57523567	C	A	exonic	CGNL1	.	nonsynonymous SNV	CGNL1:NM_032866:exon11:c.C2794A:p.L932I,CGNL1:NM_001252335:exon12:c.C2794A:p.L932I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.350	0.0637006668393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.187	0.28764	T	0.931	0.51899	P	0.688	0.53700	P	0.127863	0.18752	N	0.232855	0.876037	0.35656	D	3.005	0.85968	M	-1.52	0.81478	D	-1.57	0.37955	N	0.443	0.48134	0.079	0.83787	D	0.513	0.81719	D	10	0.3030254	0.47836	T	0.063701	0.69050	D	0.350	0.67142	0.202	0.11659	0.505028829284	0.50142	0.11616067249800203	0.11544	0.100634872147	0.11374	0.637490153313	0.58206	T	0.174695	0.52401	T	0.0366927	0.56609	T	-0.18507	0.56050	T	0.92698210477829	0.58957	D	0.89651	0.63872	D	0.122073546	0.28693	0.10765267	0.25920	0.122073546	0.28693	0.10765267	0.25919	-7.92	0.60524	D	.	.	0.242	0.47622	B	.	.	2.637390	0.34311	19.59	0.98395143142183628	0.40999	0.80249	0.39937	D	AEFDBI	0.352195	0.44504	N	-0.386033811710841	0.25965	1.413559	-0.529338572489326	0.21358	1.155003	0.333020746272919	0.19505	0.732398	0.92422	0	0.59043	0.45803	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.46	-3.71	0.04137	0.546000	0.22991	0.094000	0.14556	-0.819000	0.02980	1.000000	0.71638	0.975000	0.29991	0.979000	0.57723	0.0:0.6258:0.0:0.3742	16.441	0.83741	352	0.85375	Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr15	57523567	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr15	58184011	58184011	C	T	exonic	AQP9	.	nonsynonymous SNV	AQP9:NM_001320636:exon6:c.C569T:p.A190V,AQP9:NM_020980:exon6:c.C764T:p.A255V	.	.	.	.	.	.	.	.	.	.	.	2300546	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.212	0.0532007288818	.	.	7.413e-05	0	0.0004	0	0	5.994e-05	0	0	5.82e-05	9	154602	rs753410663	2.736e-05	2.736e-05	3.131e-05	2.338e-05	0.0003	2.062e-05	1.816e-05	0.0002	0.0001	0	0.0003	0	0	0	0	2.068e-05	8.279e-05	0	3.944e-05	3.94e-05	3.855e-05	4.038e-05	0.0003	1.716e-05	1.13e-05	8.877e-05	5.386e-05	0	0	0.0003	0.0003	0	0	0	1.47e-05	0	0	0.004	0.65419	D	0.061	0.66756	T	0.925	0.51395	P	0.925	0.65999	D	0.064297	0.21963	N	0.450211	0.999985	0.18198	N	2.87	0.83286	M	2.09	0.20122	T	-3.11	0.63669	D	0.34	0.38129	-0.5904	0.65205	T	0.213	0.57454	T	10	0.62477845	0.68180	D	0.053201	0.65376	D	0.212	0.50341	0.752	0.88237	0.259272394797	0.25527	0.9533465858424457	0.95318	0.0563462396271	0.06225	0.377541035414	0.21906	T	0.722822	0.96825	D	-0.315256	0.07293	T	-0.39306	0.34193	T	0.759958624839783	0.43849	D	0.89491	0.63503	D	0.24531204	0.47489	0.26754674	0.52613	0.24531204	0.47489	0.26754674	0.52612	-8.799	0.66394	D	.	.	0.837	0.79102	P	.;.;.	.;.;.	3.501076	0.48979	22.7	0.99658864697161309	0.77820	0.73995	0.36193	D	AEFDGBI	0.746168	0.68862	D	0.0976483152025463	0.46353	2.876948	-0.111523305690646	0.34925	2.014535	0.999760389983276	0.42728	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.84	1.51	0.22094	1.952000	0.39968	.	.	-0.218000	0.08083	0.964000	0.33853	0.834000	0.27239	0.438000	0.27627	0.0:0.4503:0.5497:0.0	19.287	0.94064	910	0.22284	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr15	58184011	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr15	63733069	63733069	G	T	exonic	HERC1	.	nonsynonymous SNV	HERC1:NM_003922:exon14:c.C2723A:p.P908H	Macrocephaly, dysmorphic facies, and psychomotor retardation, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.00730263987926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.089	0.40426	T	0.996	0.68779	D	0.819	0.59018	P	0.000001	0.84330	U	0.000000	1	0.81001	D	1.845	0.48678	L	1.85	0.24472	T	-2.82	0.59545	D	0.693	0.69825	-1.0660	0.10316	T	0.101	0.37443	T	10	0.59249175	0.66458	D	0.007303	0.19361	T	0.200	0.48430	0.262	0.20631	0.0675242888579	0.06100	0.6960315156182948	0.69544	1.81904149791	0.91904	0.727800488472	0.71185	T	0.264697	0.63650	T	0.00281006	0.52040	T	-0.23374	0.51408	T	0.958842158317566	0.65377	D	0.905509	0.66687	D	0.36547986	0.58249	0.29952487	0.55986	0.36547986	0.58249	0.29952487	0.55985	-4.867	0.35362	T	.	.	0.403	0.59716	A	.	.	4.021344	0.59398	24.1	0.99704234927716773	0.80867	0.99631	0.98164	D	AEFBI	0.821558	0.74209	D	0.674411222627061	0.77957	6.775666	0.687388825995752	0.81421	7.522594	0.999906837561712	0.45458	0.719381	0.83141	0	0.723133	0.82719	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.67	4.75	0.59954	5.675000	0.67796	10.028000	0.83159	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.926000	0.46234	0.0697:0.0:0.9303:0.0	15.021	0.71291	690	0.58899	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	38	chr15	63733069	.	G	T	33.22	.	AC=2;AF=0.143;AN=14;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr15	66323552	66323552	C	T	exonic	DIS3L	.	nonsynonymous SNV	DIS3L:NM_001323937:exon10:c.C1256T:p.A419V,DIS3L:NM_001323940:exon10:c.C524T:p.A175V,DIS3L:NM_001323943:exon10:c.C524T:p.A175V,DIS3L:NM_001323948:exon10:c.C1454T:p.A485V,DIS3L:NM_001143688:exon11:c.C1634T:p.A545V,DIS3L:NM_001323936:exon11:c.C1385T:p.A462V,DIS3L:NM_001323938:exon11:c.C1232T:p.A411V,DIS3L:NM_001323941:exon11:c.C1232T:p.A411V,DIS3L:NM_001323944:exon11:c.C1583T:p.A528V,DIS3L:NM_001323945:exon11:c.C1385T:p.A462V,DIS3L:NM_001323946:exon11:c.C1232T:p.A411V,DIS3L:NM_133375:exon11:c.C1385T:p.A462V,DIS3L:NM_001323939:exon12:c.C1232T:p.A411V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.0286702996662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.48642	D	0.058	0.51112	T	0.87	0.47827	P	0.688	0.53700	P	0.001291	0.39521	N	0.304541	0.990122	0.81001	D	2.215	0.62545	M	0.94	0.43672	T	-2.96	0.63554	D	0.497	0.53093	-0.6049	0.64614	T	0.235	0.60246	T	10	0.6045246	0.67099	D	0.02867	0.51308	D	0.213	0.50496	0.442	0.49811	0.608043754429	0.60489	0.49086214745566503	0.49006	0.547469509892	0.51713	0.496355473995	0.38320	T	0.165612	0.51153	T	-0.0705092	0.41244	T	-0.339058	0.40450	T	0.977731049060822	0.71985	D	0.973803	0.90577	D	0.5377608	0.69271	0.38422713	0.63368	0.5377608	0.69272	0.38422713	0.63368	-10.667	0.77800	D	.	.	0.234	0.46722	B	.;.	.;.	4.134693	0.61898	24.4	0.99783263657128929	0.86955	0.90306	0.51377	D	ALL	0.662960	0.63265	D	0.220268022662979	0.52183	3.394051	0.121934391935504	0.45673	2.826307	1.0	0.98316	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	5.74	4.82	0.61641	5.917000	0.69720	7.521000	0.59763	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:0.8649:0.1351:0.0	15.939	0.79524	639	0.64210	.;Ribonuclease II/R|Ribonuclease II/R	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	43.44	33	chr15	66323552	.	C	T	43.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.497;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.62;ReadPosRankSum=2.26;SOR=0.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,2:12:54:0|1:66323552_C_T:54,0,414:66323552	6	0	1	0
chr15	67261344	67261344	G	T	exonic	IQCH	.	nonsynonymous SNV	IQCH:NM_001031715:exon2:c.G124T:p.D42Y,IQCH:NM_022784:exon2:c.G124T:p.D42Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.0952352843916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.956e-07	6.843e-07	0	1.398e-06	1.22e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.22e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.006	0.76473	D	0.999	0.77913	D	0.958	0.70027	D	0.000278	0.46590	D	0.178745	0.708371	0.81001	D	2.215	0.62545	M	0.06	0.61798	T	-6.68	0.92391	D	0.704	0.70790	-0.4122	0.71640	T	0.349	0.71352	T	10	0.6483167	0.69456	D	0.095235	0.76394	D	0.311	0.63269	0.349	0.34598	0.366848117066	0.36290	0.46602494380522824	0.46521	0.537137804364	0.51028	0.402970671654	0.25482	T	0.28221	0.65494	T	0.114276	0.65791	D	-0.0736268	0.65367	T	0.9743664066177	0.70477	D	0.811219	0.47908	T	0.4924361	0.66648	0.32452008	0.58375	0.4924361	0.66649	0.32452008	0.58374	-5.84	0.44921	T	.	.	0.264	0.50287	B	.;.	.;.	3.798547	0.54714	23.5	0.99359892237288783	0.60946	0.85693	0.44854	D	AEFI	0.206041	0.33234	N	0.388501634513169	0.60797	4.272861	0.314945229687919	0.56418	3.805022	0.999969045749487	0.48965	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.71	3.84	0.43422	2.580000	0.45733	7.536000	0.59999	0.618000	0.50648	0.998000	0.41325	1.000000	0.68203	0.597000	0.31313	0.1724:0.0:0.8276:0.0	8.869	0.34463	922	0.19044	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	25	chr15	67261344	.	G	T	33.22	.	AC=2;AF=0.143;AN=14;DP=174;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr15	67827953	67827953	G	A	exonic	SKOR1	.	nonsynonymous SNV	SKOR1:NM_001365915:exon2:c.G2125A:p.A709T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0114133402467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.415e-06	2.189e-05	1.4e-06	1.431e-06	2.658e-05	2.4e-07	9e-08	.	.	0	0	0	2.658e-05	0	0	9.177e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.574	0.08900	T	.	.	.	.	.	.	0.710725	0.06256	N	1.146860	1	0.08975	N	-0.695	0.01866	N	2.47	0.14783	T	0.65	0.02332	N	0.081	0.10483	-0.9307	0.44036	T	0.018	0.07706	T	10	0.031106621	0.01242	T	0.011413	0.29007	T	0.047	0.12962	.	.	0.0297737177859	0.01360	.	.	.	.	.	.	.	0.002621	0.02014	T	-0.377858	0.03214	T	-0.780543	0.02437	T	0.0894793325274868	0.11156	T	0.482252	0.14651	T	0.040252447	0.05713	0.10192662	0.24414	0.040252447	0.05712	0.10192662	0.24414	-5.349	0.40425	T	.	.	0.080	0.07745	B	.;.;.	.;.;.	-0.117810	0.03536	0.676	0.95146853355366889	0.26275	0.11952	0.16966	N	AEFDBHCI	.	.	.	-1.52135890367703	0.01709	0.07482506	-1.50747648468279	0.02286	0.1049032	0.999992124345156	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	5.26	-4.27	0.03486	-0.363000	0.07645	0.570000	0.19597	-0.247000	0.07223	0.000000	0.06391	0.001000	0.17328	0.020000	0.11549	0.11:0.1151:0.7749:0.0	14.281	0.65762	343	0.85802	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	43	chr15	67827953	.	G	A	33.22	.	AC=2;AF=0.143;AN=14;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr15	74848655	74848655	A	-	exonic	SCAMP2	.	frameshift deletion	SCAMP2:NM_005697:exon7:c.679delT:p.C227Vfs*3,SCAMP2:NM_001320778:exon8:c.808delT:p.C270Vfs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	30.4	34	chr15	74848654	.	CA	C	30.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.366;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.34;ReadPosRankSum=1.07;SOR=0.446	GT:AD:DP:GQ:PL	0/1:5,2:7:41:41,0,134	6	0	1	0
chr15	88840083	88840083	C	A	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon4:c.C526A:p.L176M,ACAN:NM_001369268:exon4:c.C526A:p.L176M,ACAN:NM_013227:exon4:c.C526A:p.L176M	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.003206163376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.57480	D	0.069	0.44905	T	0.822	0.45767	P	0.371	0.43568	B	0.021523	0.26815	N	0.000000	0.885968	0.27967	N	1.935	0.51832	L	2.93	0.09822	T	-1.57	0.39119	N	0.474	0.50958	-1.1232	0.02138	T	0.047	0.20156	T	10	0.38677743	0.54598	T	0.003206	0.07026	T	0.152	0.39956	0.697	0.83406	0.220282294035	0.21616	0.37347673423663424	0.37261	0.190798805899	0.21393	0.692191958427	0.66021	T	0.199873	0.55729	T	-0.187783	0.22584	T	-0.507514	0.21570	T	0.819295823574066	0.47720	D	0.651335	0.26216	T	0.23617725	0.46464	0.1649454	0.38184	0.23617725	0.46464	0.1649454	0.38183	-6.561	0.50755	T	0.12588862966229314	0.12607	0.266	0.57230	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.957189	0.58015	23.9	0.99084288231747331	0.52051	0.73707	0.36053	D	AEFDBI	0.194863	0.32193	N	0.494767614341856	0.66783	4.995038	0.536138407049464	0.70441	5.505406	0.605994139369019	0.21765	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.79	4.87	0.62877	2.467000	0.44750	2.187000	0.31177	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.2398:0.6818:0.0:0.0784	8.048	0.29720	968	0.07033	Link domain|Link domain|Link domain;Link domain|Link domain|Link domain;Link domain|Link domain|Link domain;Link domain|Link domain|Link domain;.;.;Link domain|Link domain|Link domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	35	chr15	88840083	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr15	89671528	89671528	T	C	exonic	PLIN1	.	nonsynonymous SNV	PLIN1:NM_001145311:exon4:c.A287G:p.D96G,PLIN1:NM_002666:exon4:c.A287G:p.D96G	Lipodystrophy, familial partial, type 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.533	0.0437116910355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000005	0.62929	D	0.059248	0.999928	0.51308	D	2.75	0.80375	M	2.17	0.19020	T	-6.75	0.92692	D	0.95	0.96072	-0.7650	0.57132	T	0.168	0.50826	T	10	0.98630583	0.98933	D	0.043712	0.61125	D	0.533	0.80367	0.914	0.98346	0.544346501278	0.54089	0.8301276384854474	0.82971	0.212678932647	0.23774	0.566177964211	0.48138	T	0.44175	0.78617	T	0.182336	0.72258	D	0.0241371	0.71898	D	0.997230350971222	0.91078	D	0.894111	0.63286	D	0.7173468	0.79014	0.7448737	0.84919	0.7173468	0.79016	0.7448737	0.84920	-10.554	0.77157	D	0.5690526348577978	0.63634	0.853	0.79943	P	.;.	.;.	5.197633	0.87191	29.2	0.99871148950294142	0.94902	0.96208	0.68031	D	AEFDBI	0.866661	0.78617	D	0.835051758871193	0.88241	9.505041	0.79769892038165	0.89631	10.05605	0.999999983101578	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.79	5.79	0.91751	5.681000	0.67839	7.792000	0.68917	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	14.946	0.70678	859	0.33891	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr15	89671528	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=226;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr15	90231459	90231459	C	T	exonic	CIB1	.	nonsynonymous SNV	CIB1:NM_001277764:exon4:c.G364A:p.A122T,CIB1:NM_006384:exon4:c.G244A:p.A82T	.	421	1097	4	0	0	4	0.00181984	.	.	YES	1157572	not_provided|CIB1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.098	.	.	0.00519169	0.0035	0	0.0003	0.0002	0	0	0.0011	0.0250	0.0029624	458	154602	rs562237879	0.0015	0.0015	0.0008	0.0022	0.0240	0.0015	0.0014	0.0232	0.0228	2.987e-05	2.236e-05	0	0	0	0.0019	1.439e-05	0.0018	0.0240	0.0008	0.0008	0.0003	0.0013	0.0250	0.0007	0.0007	0.0214	0.0200	0	0	6.536e-05	0	0.0002	0	0	1.47e-05	0.0005	0.0250	0.748	0.03609	T	0.439	0.13365	T	0.0	0.02946	B	0.0	0.01387	B	0.139973	0.02877	N	1.677480	1	0.08975	N	0	0.06538	N	2.96	0.09542	T	-0.08	0.08187	N	0.13	0.16447	-0.9823	0.34468	T	0.018	0.07565	T	10	0.0018526614	0.00025	T	.	.	.	0.098	0.28162	0.27	0.21893	0.104622674875	0.10061	0.2278705604284973	0.22702	0.155556298816	0.17554	0.26748585701	0.05815	T	0.134338	0.46552	T	-0.773564	0.00012	T	-0.865694	0.00784	T	0.0076744546124589	0.00089	T	0.148285	0.01234	T	0.10853205	0.25661	0.092734426	0.21870	0.10853205	0.25661	0.092734426	0.21869	-3.041	0.11022	T	.	.	0.067	0.02488	B	.;.	.;.	0.042038	0.04581	1.258	0.84514030562110309	0.15336	0.03839	0.09189	N	ALL	0.106545	0.21255	N	-1.43471751007714	0.02340	0.1031962	-1.46088107625463	0.02673	0.1233793	0.999999960542485	0.74766	0.706548	0.73137	0	0.52208	0.09955	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	4.63	-4.86	0.02902	-3.285000	0.00583	-0.717000	0.07722	-0.751000	0.03586	0.000000	0.06391	0.000000	0.08366	0.842000	0.39752	0.0:0.5997:0.0:0.4003	15.273	0.73416	587	0.69154	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003525	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.011364	0.1429	1019.23	33	chr15	90231459	.	C	T	1019.23	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.229;DP=292;ExcessHet=0.3476;FS=0.753;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=-0.167;SOR=0.581	GT:AD:DP:GQ:PL	0/1:7,2:9:22:22,0,189	5	0	2	0
chr15	90241939	90241939	C	A	exonic	GDPGP1	.	nonsynonymous SNV	GDPGP1:NM_001013657:exon4:c.C1031A:p.S344Y,GDPGP1:NM_001322811:exon5:c.C1031A:p.S344Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.0111880557222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.032	0.53426	D	0.944	0.53183	P	0.346	0.42645	B	0.252300	0.15484	N	0.650464	1	0.08975	N	0.97	0.24054	L	1.9	0.23486	T	-1.86	0.43524	N	0.07	0.17553	-1.0805	0.07252	T	0.049	0.20987	T	10	0.12621921	0.23992	T	0.011188	0.28559	T	0.095	0.27398	0.295	0.25881	0.446211707333	0.44242	0.41330702771968775	0.41246	0.166143637461	0.18748	0.403835475445	0.25603	T	0.004105	0.03512	T	-0.274873	0.11219	T	-0.632612	0.10218	T	0.320634514093399	0.25847	T	0.545245	0.18642	T	0.10851316	0.25656	0.14394501	0.34191	0.10851316	0.25656	0.14394501	0.34190	-3.683	0.19067	T	.	.	0.117	0.24123	B	.;.	.;.	2.690261	0.35117	19.81	0.96909066723612647	0.31570	0.08238	0.14193	N	ALL	0.048419	0.08261	N	-0.23008563545875	0.31905	1.79376	-0.29823918645016	0.28157	1.56769	0.999999923805319	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.62	4.7	0.58776	1.488000	0.35160	2.703000	0.34176	0.599000	0.40250	0.001000	0.13787	0.031000	0.21272	0.215000	0.22324	0.326:0.674:0.0:0.0	11.524	0.49818	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	.	.	.	.	.	.	.	.	0.1429	33.22	41	chr15	90241939	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=234;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr15	97965937	97965937	G	C	exonic	ARRDC4	.	nonsynonymous SNV	ARRDC4:NM_183376:exon3:c.G417C:p.Q139H	.	423	1098	1	0	0	1	0.000455166	.	.	.	726368	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.057	0.00651340585483	0.0047	0.00179712	0.0036	0.0010	0.0010	0	0.0054	0.0056	0.0044	0	0.003868	598	154602	rs146146673	0.0047	0.0047	0.0049	0.0045	0.0058	0.0046	0.0046	0.0056	0.0056	0.0007	0.0008	0.0010	2.519e-05	0.0035	0.0007	0.0058	0.0036	4.637e-05	0.0033	0.0033	0.0036	0.0030	0.0059	0.0031	0.0030	0.0054	0.0052	0.0010	0	0.0010	0.0017	0	0.0036	0	0.0059	0.0019	0	0.009	0.57480	D	0.117	0.36365	T	0.427	0.35524	B	0.5	0.47649	P	0.005567	0.32687	N	0.265080	0.99572	0.42826	D	1.74	0.45129	L	3.22	0.07024	T	-1.32	0.32991	N	0.537	0.56489	-1.1189	0.02402	T	0.037	0.15813	T	10	0.01701042	0.00361	T	0.006513	0.17157	T	0.057	0.16321	0.655	0.79276	0.544652427739	0.54119	0.4867412342476924	0.48594	0.538836740373	0.51133	0.349693745375	0.17877	T	0.013036	0.11349	T	-0.485617	0.00687	T	-0.464359	0.26125	T	0.0310378783665963	0.02153	T	0.926307	0.72903	D	0.3294231	0.55424	0.36834344	0.62126	0.3294231	0.55424	0.36834344	0.62125	-4.349	0.28858	T	.	.	0.168	0.36966	B	.	.	3.494350	0.48858	22.7	0.99686995748811769	0.79641	0.77669	0.38215	D	AEFDGBCI	0.240938	0.36264	N	0.112348723098311	0.47038	2.935212	0.16562376460008	0.47975	3.019914	0.999974703553072	0.50053	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.44	3.12	0.34986	1.516000	0.35463	2.178000	0.31107	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.1284:0.2719:0.5996:0.0	8.079	0.29893	992	0.01359	Arrestin-like, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	103.44	33	chr15	97965937	.	G	C	103.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.282;DP=218;ExcessHet=0;FS=3.31;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.24;ReadPosRankSum=-0.524;SOR=0.105	GT:AD:DP:GQ:PL	0/1:2,4:6:68:114,0,68	6	0	1	0
chr16	681318	681318	G	A	exonic	STUB1	.	nonsynonymous SNV	STUB1:NM_001293197:exon2:c.G110A:p.S37N,STUB1:NM_005861:exon2:c.G326A:p.S109N	Spinocerebellar ataxia, autosomal recessive 16, Autosomal recessive	418	1080	24	0	0	24	0.010989	.	.	.	715021	STUB1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.066	.	0.0032	0.00459265	0.0042	0.0006	0.0010	0	0.0006	0.0043	0.0046	0.0114	0.0039262	607	154602	rs148553428	0.0048	0.0048	0.0046	0.0051	0.0116	0.0048	0.0047	0.0110	0.0107	0.0007	0.0010	0.0001	2.519e-05	0.0015	0.0066	0.0051	0.0040	0.0116	0.0032	0.0032	0.0032	0.0031	0.0120	0.0029	0.0028	0.0095	0.0086	0.0008	0	0.0026	0	0	0.0005	0.0034	0.0049	0.0047	0.0120	0.385	0.11015	T	0.591	0.09588	T	0.0	0.02946	B	0.0	0.01387	B	0.000003	0.62929	N	0.102113	1	0.81001	D	0.485	0.13215	N	1.28	0.72011	T	-0.23	0.14782	N	0.045	0.05929	-1.0913	0.05319	T	0.052	0.22037	T	10	0.00935328	0.00211	T	.	.	.	0.066	0.19193	.	.	0.469989170139	0.46626	0.0552382357288773	0.05464	0.908591861801	0.70951	0.681362867355	0.64464	T	0.464701	0.80015	T	-0.487595	0.00670	T	-0.463778	0.26188	T	0.0117402601903643	0.00181	T	0.763624	0.39255	T	0.12940878	0.30225	0.08267248	0.18886	0.15337174	0.34767	0.0686798	0.14374	-2.585	0.06390	T	0.0910412711494241	0.05734	0.051	0.05623	B	.;.;.;.	.;.;.;.	2.057552	0.26162	17.02	0.9512141436897571	0.26219	0.83108	0.42254	D	ALL	0.423068	0.48881	N	-0.510146035958848	0.21750	1.156616	-0.328821829867916	0.27173	1.505923	0.999999999809383	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.52208	0.10781	0	0.621717	0.48901	0	.	.	4.82	1.27	0.20595	3.670000	0.54305	4.320000	0.42995	-0.110000	0.15115	1.000000	0.71638	1.000000	0.68203	0.836000	0.39433	0.4935:0.0:0.5065:0.0	6.802	0.22943	632	0.64850	.;Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006559	0.005051	0.005450	0.008772	0.000000	0.017241	0.000000	0.015152	0.07143	88.44	34	chr16	681318	.	G	A	88.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.03;DP=223;ExcessHet=0;FS=2.43;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.84;ReadPosRankSum=-0.405;SOR=1.609	GT:AD:DP:GQ:PL	0/1:6,4:10:99:99,0,152	6	0	1	0
chr16	2170704	2170704	T	C	exonic	TRAF7	.	nonsynonymous SNV	TRAF7:NM_032271:exon5:c.T322C:p.S108P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255	0.0529311611731	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.33585	T	0.266	0.92824	T	0.995	0.67487	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.695	0.17993	N	0.67	0.52187	T	-1.56	0.57599	N	0.793	0.78927	-0.7897	0.55747	T	0.179	0.52458	T	10	0.42803168	0.57304	T	0.052931	0.65269	D	0.255	0.56562	0.109	0.01988	0.769452518284	0.76733	0.3900614802325201	0.38921	0.106417220655	0.12028	0.697953104973	0.66849	T	0.110641	0.42550	T	0.067462	0.60538	T	-0.140872	0.60042	T	0.90105813741684	0.55371	D	0.952605	0.81930	D	0.3297317	0.55449	0.34265524	0.59988	0.3297317	0.55449	0.34265524	0.59988	-7.229	0.55689	T	.	.	0.430	0.85485	A	.;.	.;.	5.053566	0.84183	28.2	0.9832397472399127	0.40270	0.95642	0.65542	D	AEFDBCI	0.973986	0.99530	D	0.549157435266354	0.70032	5.44218	0.565711615531454	0.72497	5.819237	0.999999999996869	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.606735	0.37207	0	0.56214	0.19341	0	.	.	4.79	4.79	0.60909	6.157000	0.71647	7.840000	0.70487	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.851000	0.40252	0.0:0.0:0.0:1.0	13.642	0.61730	620	0.66037	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr16	2170704	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr16	3436506	3436506	-	A	exonic	ZNF597	.	frameshift insertion	ZNF597:NM_152457:exon4:c.1192_1193insT:p.K398Ifs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	49.4	34	chr16	3436506	.	T	TA	49.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=219;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.94;ReadPosRankSum=-2.287;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,2:10:60:0|1:3436506_T_TA:60,0,330:3436506	6	0	1	0
chr16	3436507	3436507	T	A	exonic	ZNF597	.	stopgain	ZNF597:NM_152457:exon4:c.A1192T:p.K398X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.257439	0.15383	N	0.582312	0.999963	0.52935	D	.	.	.	.	.	.	.	.	.	0.095	0.07535	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.363346	0.87509	D	0.284145	0.87348	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.284167	0.96354	36	0.99230170997366318	0.56183	0.21584	0.21453	N	AEDBI	0.104595	0.20923	N	0.38732127303648	0.60735	4.265709	0.15539970431401	0.47428	2.973257	0.0177302049982513	0.12982	0.615465	0.37627	0	0.636889	0.57051	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	4.76	4.76	0.60189	-0.133000	0.10430	.	.	0.665000	0.62972	0.000000	0.06391	0.985000	0.30750	0.780000	0.36908	0.1817:0.0:0.0:0.8183	7.992	0.29409	666	0.61362	Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	49.44	34	chr16	3436507	.	T	A	49.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=219;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.94;ReadPosRankSum=-2.287;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,2:10:60:0|1:3436506_T_TA:60,0,330:3436506	6	0	1	0
chr16	3656744	3656744	C	T	exonic	DNASE1	.	nonsynonymous SNV	DNASE1:NM_005223:exon5:c.C427T:p.R143W,DNASE1:NM_001351825:exon6:c.C427T:p.R143W	.	404	1112	6	0	0	6	0.00269058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.0326298370451	0.0002	.	5.062e-05	0	0.0001	0	0	4.632e-05	0	8.295e-05	2.59e-05	4	154602	rs374554105	2.199e-05	2.326e-05	2.049e-05	2.35e-05	0.0003	1.591e-05	1.362e-05	6.096e-05	3.413e-05	0	2.263e-05	0	0	0	0.0003	1.533e-05	6.649e-05	9.406e-05	1.971e-05	1.97e-05	1.285e-05	2.69e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0.0005	0	0.001	0.78490	D	0.004	0.76473	D	0.876	0.48154	P	0.111	0.31539	B	0.003950	0.34294	N	0.323006	1	0.81001	D	1.1	0.28011	L	0.61	0.53516	T	-2.39	0.52612	N	0.237	0.26717	-0.9531	0.40433	T	0.086	0.33326	T	10	0.19837108	0.35804	T	0.03263	0.54402	D	0.213	0.50496	.	.	0.670421039873	0.66764	0.6508658138558806	0.65022	0.00684574193027	0.00603	0.3275847435	0.14570	T	0.553837	0.84941	D	-0.0762363	0.40325	T	-0.257554	0.49069	T	0.66365659236908	0.39057	D	0.610439	0.23144	T	0.26006982	0.49062	0.23253497	0.48416	0.26006982	0.49062	0.23253497	0.48415	-7.333	0.56430	T	.	.	0.123	0.27523	B	.;.;.	.;.;.	4.159102	0.62453	24.5	0.99721703183084776	0.82125	0.46302	0.27730	N	AEFDBHCI	0.280013	0.39394	N	-0.134209633221015	0.35908	2.068654	-0.143917333031055	0.33642	1.926627	0.999999757350811	0.74766	0.67177	0.52595	0	0.577304	0.33150	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.27	5.27	0.73797	4.903000	0.62964	.	.	0.599000	0.40250	0.975000	0.34726	0.999000	0.35428	0.009000	0.08673	0.0:1.0:0.0:0.0	15.627	0.76617	600	0.68026	Endonuclease/exonuclease/phosphatase;Endonuclease/exonuclease/phosphatase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	233.21	35	chr16	3656744	.	C	T	233.21	.	AC=2;AF=0.143;AN=14;DP=216;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=29.15;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,8:8:24:254,24,0	6	1	0	0
chr16	4695168	4695168	G	A	exonic	NUDT16L1	.	nonsynonymous SNV	NUDT16L1:NM_001370588:exon2:c.G364A:p.A122T,NUDT16L1:NM_001370585:exon3:c.G619A:p.A207T,NUDT16L1:NM_001370587:exon3:c.G505A:p.A169T,NUDT16L1:NM_032349:exon3:c.G625A:p.A209T	.	.	.	.	.	.	.	.	.	.	.	4031735	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.105	0.00375650198689	.	.	8.359e-06	0	0	0	0	1.527e-05	0	0	6.5e-06	1	154602	rs1166307538	2.054e-06	4.788e-06	1.363e-06	2.753e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	6.575e-06	6.568e-06	0	1.346e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.087	0.32453	T	0.073	0.43159	T	0.0	0.02946	B	0.001	0.04355	B	0.000004	0.00162	N	7779.530000	1	0.30541	N	.	.	.	.	.	.	0.08	0.06026	N	0.074	0.08088	-1.0468	0.15303	T	0.050	0.21378	T	9	0.050840825	0.04876	T	0.003757	0.08744	T	0.105	0.29889	0.097	0.01334	0.0716867268079	0.06686	0.38189550467439864	0.38104	0.590954649114	0.54541	0.272372305393	0.06453	T	0.037653	0.24556	T	-0.349613	0.04751	T	-0.676325	0.07210	T	0.081094816327095	0.10126	T	0.563244	0.19836	T	0.12804925	0.29948	0.108658865	0.26178	0.12804925	0.29948	0.108658865	0.26177	-3.967	0.23308	T	.	.	0.069	0.06024	B	.;.	.;.	0.922620	0.12977	9.482	0.93185766996838038	0.22848	0.41204	0.26606	N	AEFDGBHCI	0.109282	0.21710	N	-1.02264089915325	0.08135	0.3803929	-1.02596876465443	0.09216	0.4572575	0.999999956312601	0.74766	0.766844	0.99359	0	0.696144	0.67643	0	0.851219	0.99655	0	0.662433	0.64102	0	.	.	3.85	-0.8	0.10347	0.869000	0.27648	1.253000	0.25182	0.676000	0.76740	0.593000	0.27690	0.685000	0.26142	0.155000	0.20479	0.233:0.1583:0.397:0.2117	0.723	0.00884	745	0.52414	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	21	chr16	4695168	.	G	A	33.22	.	AC=2;AF=0.143;AN=14;DP=180;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr16	11423223	11423223	G	C	exonic	LOC400499	.	nonsynonymous SNV	LOC400499:NM_001370704:exon42:c.C6340G:p.L2114V	.	1033	487	2	0	0	2	0.00204918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs547118809	0.0002	0.0001	0.0002	0.0002	0.0010	0.0002	0.0001	0.0003	0.0002	0.0001	0.0003	0	0	0	0	0.0003	6.104e-05	0.0010	0.0002	0.0002	0.0001	0.0002	0.0014	0.0001	8.71e-05	0.0007	0.0005	2.405e-05	0	0.0002	0.0003	0	0	0	0.0002	0	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048705876	0.04358	T	.	.	.	.	.	.	.	0.453401982733	0.44964	.	.	.	.	.	.	.	.	.	.	-0.392907	0.02576	T	-0.52786	0.19502	T	.	.	.	0.422958	0.11265	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.33458	B	.	.	1.941116	0.24657	16.48	0.45016428337973152	0.03503	0.63150	0.32000	D	AEFDBI	0.071453	0.14224	N	.	.	.	.	.	.	0.999662705737736	0.41534	0.615465	0.37627	0	0.491513	0.07743	0	0.658983	0.55881	0	0.562822	0.20929	0	.	.	3.7	3.7	0.41607	3.510000	0.53150	3.460000	0.38507	0.511000	0.23309	0.957000	0.33433	0.999000	0.35428	0.003000	0.05239	0.0:0.0:1.0:0.0	10.930	0.46423	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	160.4	44	chr16	11423223	.	G	C	160.4	.	AC=2;AF=0.143;AN=14;DP=315;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=33.71;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,4:4:12:1|1:11423214_A_G:180,12,0:11423214	6	1	0	0
chr16	12705044	12705044	G	A	exonic	CPPED1	.	nonsynonymous SNV	CPPED1:NM_018340:exon3:c.C295T:p.P99S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.0483874317473	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1018532906	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.14793	T	0.711	0.05506	T	0.013	0.16609	B	0.042	0.24114	B	0.014892	0.28400	N	0.414873	1	0.08975	N	1.87	0.49600	L	-1.76	0.83578	D	-1.82	0.42763	N	0.189	0.20660	-0.7347	0.58725	T	0.406	0.75586	T	10	0.20411348	0.36591	T	0.048387	0.63349	D	0.148	0.39182	0.269	0.21735	0.352693368174	0.34879	0.3559156494393688	0.35505	0.0544959346374	0.06029	0.302505910397	0.10776	T	0.132243	0.46222	T	-0.0509294	0.44304	T	-0.310933	0.43557	T	0.404345780611038	0.29106	T	0.779722	0.41422	T	0.06675794	0.14395	0.096282504	0.22871	0.06675794	0.14395	0.096282504	0.22870	-5.38	0.40726	T	.	.	0.117	0.23779	B	.	.	1.828414	0.23235	15.94	0.93538462872402239	0.23363	0.62314	0.31744	D	AEFBI	0.219512	0.34438	N	-0.513027389135475	0.21659	1.151023	-0.444589105895788	0.23703	1.294	0.00262227979024001	0.09584	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.7	4.73	0.59485	2.327000	0.43517	4.025000	0.41286	0.671000	0.69459	0.933000	0.32380	0.997000	0.33255	0.056000	0.15673	0.0:0.3123:0.6876:0.0	12.942	0.57749	964	0.07719	Calcineurin-like phosphoesterase domain, ApaH type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	27	chr16	12705044	.	G	A	33.22	.	AC=2;AF=0.143;AN=14;DP=203;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr16	14246715	14246715	G	T	exonic	MRTFB	.	nonsynonymous SNV	MRTFB:NM_001365411:exon10:c.G1422T:p.L474F,MRTFB:NM_001365413:exon10:c.G1242T:p.L414F,MRTFB:NM_001365414:exon10:c.G1242T:p.L414F,MRTFB:NM_001308142:exon12:c.G1455T:p.L485F,MRTFB:NM_014048:exon12:c.G1455T:p.L485F,MRTFB:NM_001365412:exon13:c.G1455T:p.L485F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0119177124728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.14694	T	0.462	0.12526	T	0.603	0.39389	P	0.178	0.35748	B	0.825938	0.06912	N	1.086380	1	0.08975	N	.	.	.	.	.	.	-0.43	0.14390	N	0.126	0.20262	-1.0297	0.20551	T	0.069	0.28313	T	9	0.05294901	0.05408	T	0.011918	0.30017	T	0.043	0.11576	0.167	0.07186	0.128874641272	0.12493	0.3295804326600133	0.32871	0.167289057197	0.18870	0.294227004051	0.09543	T	.	.	.	-0.208466	0.19596	T	-0.537224	0.18570	T	0.0880497074665617	0.10984	T	0.69953	0.30934	T	.	.	.	.	.	.	.	.	-5.809	0.44653	T	.	.	0.073	0.04640	B	.;.;.	.;.;.	1.600173	0.20457	14.76	0.97009825456721965	0.31977	0.20917	0.21215	N	AEFBI	0.087155	0.17672	N	-0.707398047074075	0.15814	0.8002656	-0.745597326336302	0.15830	0.8345245	0.999788726659595	0.43007	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.93	2.47	0.29113	1.085000	0.30452	2.976000	0.35819	-0.106000	0.15538	0.001000	0.13787	1.000000	0.68203	0.094000	0.17991	0.3032:0.0:0.5423:0.1545	4.692	0.12168	556	0.71678	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	101.44	35	chr16	14246715	.	G	T	101.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.842;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=1.37;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,4:7:67:112,0,67	6	0	1	0
chr16	14247387	14247389	TGT	-	exonic	MRTFB	.	nonframeshift deletion	MRTFB:NM_001365411:exon10:c.2094_2096del:p.V700del,MRTFB:NM_001365413:exon10:c.1914_1916del:p.V640del,MRTFB:NM_001308142:exon12:c.2127_2129del:p.V711del,MRTFB:NM_001365412:exon13:c.2127_2129del:p.V711del	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.671e-05	0	8.694e-05	0	0	1.521e-05	0	0	1.94e-05	3	154602	rs750046044	3.011e-05	3.01e-05	2.723e-05	3.301e-05	0.0003	2.282e-05	2.033e-05	6.092e-05	3.272e-05	5.974e-05	2.236e-05	0	0	0	0.0003	2.608e-05	3.312e-05	9.275e-05	2.627e-05	2.626e-05	2.568e-05	2.689e-05	2.411e-05	8.14e-06	5.14e-06	.	.	2.411e-05	0	0	0	0	0.0002	0	1.469e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	187.4	35	chr16	14247386	.	CTGT	C	187.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.589;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.82;ReadPosRankSum=-1.437;SOR=1.022	GT:AD:DP:GQ:PL	0/1:4,5:9:99:198,0,153	6	0	1	0
chr16	19581567	19581567	G	T	exonic	VPS35L	.	nonsynonymous SNV	VPS35L:NM_001300743:exon7:c.G553T:p.V185L,VPS35L:NM_001365293:exon7:c.G553T:p.V185L,VPS35L:NM_001365294:exon7:c.G553T:p.V185L,VPS35L:NM_020314:exon7:c.G553T:p.V185L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0615316583455	.	.	.	.	.	.	.	.	.	.	.	.	.	rs375711713	6.847e-07	6.84e-07	0	1.376e-06	1.162e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.046	0.50809	D	0.004	0.16609	B	0.011	0.15521	B	0.000291	0.46274	D	0.192511	0.890675	0.81001	D	.	.	.	-0.21	0.78537	T	-1.57	0.40660	N	0.336	0.47580	-0.6117	0.64333	T	0.279	0.65048	T	10	0.19055074	0.34702	T	0.061532	0.68362	D	0.179	0.44899	0.327	0.31034	0.599777738666	0.59658	0.2615024837575468	0.26063	0.238051287546	0.26353	.	.	.	0.033946	0.23124	T	-0.0296872	0.47463	T	-0.17979	0.56543	T	0.492713499039398	0.32363	T	0.964504	0.87317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.54499	B	.;.;.;.;.;.	.;.;.;.;.;.	3.185787	0.43259	21.7	0.99114555462310905	0.52828	0.94638	0.61822	D	AEFBI	0.507095	0.53754	D	-0.1922010323707	0.33459	1.898436	-0.06060783249033	0.37035	2.163065	0.956349992640752	0.28242	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.64	2.31	0.27816	4.677000	0.61324	4.463000	0.43466	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.555:0.0:0.445:0.0	5.296	0.15064	530	0.73653	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	31	chr16	19581567	.	G	T	33.22	.	AC=2;AF=0.143;AN=14;DP=179;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr16	21019731	21019731	C	T	exonic	DNAH3	.	nonsynonymous SNV	DNAH3:NM_001347886:exon41:c.G5777A:p.R1926K,DNAH3:NM_017539:exon41:c.G5915A:p.R1972K	.	431	1085	6	0	0	6	0.00275735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.0297847220452	0.0008	0.000399361	0.0010	0	0.0010	0	0	0.0014	0	0.0013	0.000925	143	154602	rs151258803	0.0008	0.0008	0.0007	0.0008	0.0146	0.0007	0.0007	0.0121	0.0111	0.0007	0.0015	0.0062	0	0	0.0146	0.0005	0.0017	0.0014	0.0007	0.0007	0.0007	0.0006	0.0010	0.0006	0.0005	0.0007	0.0005	7.22e-05	0	0.0010	0.0066	0	0	0.0068	0.0007	0.0038	0.0010	0.019	0.50132	D	.	.	.	1.0	0.90584	D	0.996	0.84481	D	0.000054	0.53742	N	0.120254	0.999979	0.81001	D	3.285	0.90273	M	1.71	0.26737	T	-2.79	0.59059	D	0.567	0.59053	-0.5564	0.66541	T	0.212	0.57254	T	10	0.019082427	0.00422	T	0.029785	0.52230	D	0.332	0.65424	.	.	0.317667799068	0.31381	0.7588336710495922	0.75831	0.328727882456	0.34987	0.60316747427	0.53351	T	0.317849	0.68927	T	-0.347619	0.04878	T	-0.302186	0.44493	T	0.108194679021835	0.13235	T	0.721828	0.33531	T	0.3814462	0.59421	0.29608408	0.55641	0.3814462	0.59421	0.29608408	0.55640	-10.048	0.74198	D	.	.	0.232	0.46551	B	.	.	3.059019	0.41073	21.3	0.99733962530148501	0.82975	0.95071	0.63332	D	AEFCI	0.852478	0.76939	D	0.772837335292986	0.84382	8.272189	0.703913898210729	0.82678	7.826359	0.99106269212136	0.32361	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.8	4.84	0.62125	5.915000	0.69704	3.266000	0.37125	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.748000	0.35716	0.0:0.9309:0.0:0.0691	14.791	0.69469	365	0.84644	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015106	0.015152	0.017663	0.020468	0.000000	0.034483	0.006098	0.007576	0.1429	33.22	34	chr16	21019731	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=213;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr16	25224531	25224531	C	A	exonic	AQP8	.	nonsynonymous SNV	AQP8:NM_001169:exon4:c.C557A:p.A186D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.651	0.0613686170123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.007	0.70582	D	0.986	0.61523	D	0.796	0.58006	P	0.000000	0.84330	D	0.048336	1	0.81001	D	3.33	0.90841	M	-2.29	0.87591	D	-4.25	0.76094	D	0.915	0.91736	0.913	0.95859	D	0.829	0.94274	D	10	0.97454	0.97169	D	0.061369	0.68310	D	0.651	0.86836	0.812	0.92788	0.956278127015	0.95581	0.9779661933773277	0.97787	1.01416887604	0.74877	0.486844837666	0.37001	T	0.860972	0.96915	D	0.365763	0.87685	D	0.287617	0.87527	D	0.986351847648621	0.77094	D	0.859314	0.55085	D	0.5641509	0.70739	0.533787	0.73060	0.5641509	0.70740	0.533787	0.73061	-13.174	0.90066	D	.	.	0.894	0.82349	P	.;.	.;.	3.804584	0.54844	23.5	0.9955665579698858	0.71521	0.95052	0.63263	D	AEFDBI	0.733875	0.68018	D	0.622186993010356	0.74578	6.156818	0.493605407572531	0.67565	5.101112	0.9995063410721	0.40062	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	5.49	0.81022	3.730000	0.54731	2.111000	0.30660	0.599000	0.40250	0.998000	0.41325	0.971000	0.29754	0.010000	0.09038	0.0:1.0:0.0:0.0	16.865	0.85893	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	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr16	25224531	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr16	30525427	30525427	A	C	exonic	ZNF768	.	nonsynonymous SNV	ZNF768:NM_024671:exon2:c.T713G:p.L238R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.0177904800153	.	.	3.334e-05	0	0	0	0	4.561e-05	0.0011	0	2.59e-05	4	154602	rs774644153	2.189e-05	2.189e-05	2.178e-05	2.2e-05	2.608e-05	1.584e-05	1.356e-05	1.83e-05	1.582e-05	0	0	0	0	0	0	2.608e-05	4.967e-05	0	1.971e-05	1.97e-05	1.284e-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	0.006	0.61437	D	0.43	0.13713	T	0.141	0.27581	B	0.019	0.18783	B	0.003293	0.35154	N	0.000000	1	0.08975	N	0.55	0.14455	N	3.19	0.07599	T	0.73	0.02068	N	0.84	0.83576	-0.9935	0.31696	T	0.013	0.04985	T	10	0.5821323	0.65908	D	0.01779	0.39625	T	0.213	0.50496	0.507	0.60232	0.778744008053	0.77670	0.40248590031979925	0.40164	1.98523485117	0.93674	0.752193927765	0.74770	T	0.014533	0.12356	T	0.020955	0.54511	T	-0.100019	0.63396	T	0.254509329795837	0.23074	T	0.475652	0.14239	T	0.1761409	0.38510	0.18008094	0.40784	0.1761409	0.38510	0.18008094	0.40783	-4.113	0.25481	T	.	.	0.154	0.38227	B	.;.	.;.	4.190628	0.63158	24.5	0.99532216436560805	0.69963	0.14139	0.18243	N	AEFDBHCI	0.071594	0.14258	N	-0.497621807296707	0.22159	1.181218	-0.377974356664632	0.25655	1.412192	0.999999989473997	0.74766	0.718356	0.82227	0	0.606735	0.50208	0	0.570548	0.19454	0	0.636168	0.56350	0	.	.	5.15	5.15	0.70287	5.012000	0.63775	9.205000	0.79205	0.756000	0.94297	0.394000	0.26121	1.000000	0.68203	0.938000	0.47775	0.8337:0.1663:0.0:0.0	10.248	0.42532	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	.	.	.	.	.	.	.	.	0.07143	66.44	39	chr16	30525427	.	A	C	66.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.524;DP=228;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0.524;SOR=1.179	GT:AD:DP:GQ:PL	0/1:2,3:5:34:77,0,34	6	0	1	0
chr16	31325336	31325377	TCCTACAGGACACAGGTCACCTTCTTCTTCCCGCTTGACCTG	-	exonic	ITGAM	.	nonframeshift deletion	ITGAM:NM_000632:exon20:c.2437_2478del:p.T816_R829del,ITGAM:NM_001145808:exon20:c.2440_2481del:p.T817_R830del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	37.4	35	chr16	31325335	.	CTCCTACAGGACACAGGTCACCTTCTTCTTCCCGCTTGACCTG	C	37.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.085;DP=398;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=2.67;ReadPosRankSum=1.09;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,2:14:48:0|1:31325335_CTCCTACAGGACACAGGTCACCTTCTTCTTCCCGCTTGACCTG_C:48,0,489:31325335	6	0	1	0
chr16	31508081	31508081	G	T	exonic	RUSF1	.	nonsynonymous SNV	RUSF1:NM_022744:exon1:c.C293A:p.S98Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.0667393589518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.891	0.49025	P	0.532	0.48601	P	0.000000	0.84330	D	0.048639	0.999214	0.81001	D	.	.	.	0.84	0.47477	T	-3.43	0.67359	D	0.705	0.72656	-0.8158	0.54196	T	0.170	0.51101	T	10	0.73347884	0.74459	D	0.066739	0.69964	D	0.286	0.60456	0.683	0.82078	0.745268752542	0.74297	0.7195133327437494	0.71894	0.434279931374	0.43557	.	.	.	0.291971	0.68324	T	0.101498	0.64454	D	-0.0919819	0.64013	T	0.992693185806274	0.83242	D	0.969703	0.93285	D	0.8958436	0.91014	0.9197191	0.96378	0.8958436	0.91015	0.9197191	0.96379	-16.556	0.98481	D	.	.	0.941	0.85983	P	.;.;.;.	.;.;.;.	5.246978	0.88089	29.5	0.99076666869769148	0.51858	0.91699	0.54076	D	AEFDBHCI	0.570571	0.57490	D	0.295926956511068	0.55941	3.758316	0.294566482106381	0.55220	3.68541	0.99999999999973	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	5.66	5.66	0.87293	6.765000	0.74760	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:1.0:0.0	15.244	0.73188	341	0.85936	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.23	18	chr16	31508081	.	G	T	33.23	.	AC=2;AF=0.143;AN=14;DP=91;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr16	58555908	58555908	G	T	exonic	CNOT1	.	stopgain	CNOT1:NM_016284:exon20:c.C2480A:p.S827X,CNOT1:NM_206999:exon20:c.C2480A:p.S827X	.	.	.	.	.	.	.	.	0.9808	0.804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.566	0.06262	T	0.926	0.02814	T	0.05	0.22331	B	0.025	0.20508	B	.	.	.	.	1	0.81001	A	.	.	.	1.0	0.41392	T	-1.02	0.26843	N	0.671	0.67908	-0.9316	0.43903	T	0.172	0.51357	T	7	0.50970435	0.62025	D	0.059766	0.67774	D	.	.	0.513	0.61153	0.716910988392	0.71442	.	.	.	.	.	.	.	.	.	.	0.622132	0.98769	D	0.655873	0.98747	D	0.819239700121785	0.47715	D	0.851115	0.53499	D	.	.	.	.	.	.	.	.	-5.859	0.45085	T	.	.	0.689	0.72515	P	.	.	9.403218	0.98879	41	0.99660645749833687	0.77883	0.99670	0.98521	D	AEFBI	0.963675	0.98564	D	0.625931835728945	0.74820	6.197988	0.689704098322797	0.81595	7.563988	0.999999999999855	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.06	6.06	0.98340	10.003000	0.99689	11.784000	0.96188	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	20.640	0.99540	253	0.90069	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1429	33.22	29	chr16	58555908	.	G	T	33.22	.	AC=2;AF=0.143;AN=14;DP=196;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr16	66885164	66885164	-	A	exonic	PDP2	.	frameshift insertion	PDP2:NM_001329929:exon2:c.881dupA:p.E295Rfs*14,PDP2:NM_001329930:exon2:c.881dupA:p.E295Rfs*14,PDP2:NM_001329931:exon2:c.881dupA:p.E295Rfs*14,PDP2:NM_001329934:exon2:c.881dupA:p.E295Rfs*14,PDP2:NM_020786:exon2:c.881dupA:p.E295Rfs*14,PDP2:NM_001329928:exon3:c.881dupA:p.E295Rfs*14,PDP2:NM_001329932:exon3:c.881dupA:p.E295Rfs*14,PDP2:NM_001329933:exon3:c.881dupA:p.E295Rfs*14	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	104.4	33	chr16	66885164	.	C	CA	104.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.559;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=0.819;SOR=0.446	GT:AD:DP:GQ:PL	0/1:5,4:9:99:115,0,151	6	0	1	0
chr16	67825680	67825680	G	T	exonic	TSNAXIP1	.	nonsynonymous SNV	TSNAXIP1:NM_001351158:exon5:c.G564T:p.E188D,TSNAXIP1:NM_001288991:exon6:c.G621T:p.E207D,TSNAXIP1:NM_001288990:exon8:c.G828T:p.E276D,TSNAXIP1:NM_018430:exon8:c.G666T:p.E222D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.0200571886206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	0.24661	T	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000003	0.62929	D	0.000000	0.932492	0.37024	D	1.645	0.42016	L	5.43	0.00989	T	-0.77	0.22078	N	0.507	0.59563	-0.6846	0.61159	T	0.007	0.02518	T	10	0.18259493	0.33547	T	0.020057	0.42574	T	0.204	0.49076	0.431	0.48007	0.0551355673512	0.04727	0.08570458382377726	0.08504	0.416021963706	0.42244	0.403095245361	0.25500	T	0.080387	0.36351	T	-0.0656485	0.42021	T	-0.332076	0.41239	T	0.76644229888916	0.44228	D	0.806219	0.45944	T	0.095027156	0.22355	0.08109089	0.18399	0.095027156	0.22355	0.08109089	0.18399	-3.126	0.11597	T	.	.	0.310	0.57486	B	.;.;.;.	.;.;.;.	3.164526	0.42890	21.6	0.99601794973390856	0.74278	0.73069	0.35747	D	AEFBI	0.269974	0.38614	N	0.278497261623401	0.55060	3.670384	0.228719406541618	0.51447	3.327137	0.715939438540256	0.22874	0.608966	0.35542	0	0.588066	0.40923	0	0.769059	0.98459	0	0.528226	0.09195	0	.	.	5.8	1.21	0.20240	1.274000	0.32736	1.013000	0.23346	0.672000	0.70159	1.000000	0.71638	0.999000	0.35428	0.987000	0.62547	0.5862:0.0:0.4138:0.0	6.249	0.20045	8	0.99202	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	37	chr16	67825680	.	G	T	33.22	.	AC=2;AF=0.143;AN=14;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr16	81117404	81117404	C	G	exonic	PKD1L2	.	unknown	UNKNOWN	.	428	1056	37	1	0	39	0.0181311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.00119808	0.0022	0	0.0003	0	0.0003	0.0008	0.0067	0.0121	0.0018176	281	154602	rs201624580	0.0012	0.0012	0.0008	0.0017	0.0126	0.0012	0.0012	0.0119	0.0117	0.0002	0.0002	7.66e-05	5.039e-05	0.0003	0.0045	0.0005	0.0014	0.0126	0.0007	0.0007	0.0006	0.0008	0.0087	0.0006	0.0005	0.0066	0.0059	0.0001	0	0.0002	0	0.0008	0	0	0.0007	0.0014	0.0087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.000000	0.004076	0.008772	0.000000	0.000000	0.015244	0.011364	0.1429	66.0	34	chr16	81117404	.	C	G	66.0	.	AC=2;AF=0.143;AN=14;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=22;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,3:3:9:84,9,0	6	1	0	0
chr16	81159780	81159780	C	T	exonic	PKD1L2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.373e-06	1.368e-06	2.729e-06	0	1.802e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.802e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	165.19	34	chr16	81159780	.	C	T	165.19	.	AC=2;AF=0.143;AN=14;DP=321;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=23.6;SOR=0.941	GT:AD:DP:GQ:PL	1/1:0,7:7:21:186,21,0	6	1	0	0
chr16	81160798	81160798	C	-	exonic	PKD1L2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.491e-05	0.0003	0	0	0	0	0	0	1.94e-05	3	154602	rs768091412	7.526e-06	7.525e-06	8.168e-06	6.877e-06	0.0003	4.04e-06	2.95e-06	0.0002	0.0001	0.0003	2.236e-05	0	0	0	0	0	0	0	9.859e-05	9.851e-05	8.995e-05	0.0001	0.0004	6.008e-05	4.881e-05	0.0002	0.0002	0.0004	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	31.4	37	chr16	81160797	.	TC	T	31.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.282;DP=252;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.49;ReadPosRankSum=-1.085;SOR=0.495	GT:AD:DP:GQ:PL	0/1:7,2:9:42:42,0,208	6	0	1	0
chr16	87689962	87689962	G	C	exonic	JPH3	.	nonsynonymous SNV	JPH3:NM_020655:exon4:c.G1602C:p.E534D	Huntington disease-like 2, Autosomal dominant	2	1502	18	0	0	18	0.00595632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	0.0027	0.00379393	0.0078	0	0.0435	0	0	0.0137	0	0	0.0013325	206	154602	rs200796473	0.0052	0.0049	0.0052	0.0052	0.0085	0.0051	0.0050	0.0064	0.0057	0.0007	0.0057	0.0072	0	0.0064	0.0085	0.0056	0.0056	0.0015	0.0045	0.0045	0.0045	0.0045	0.0066	0.0042	0.0041	0.0061	0.0059	0.0010	0.0066	0.0057	0.0052	0	0.0057	0.0068	0.0066	0.0061	0.0012	0.432	0.09486	T	0.36	0.16964	T	0.007	0.14184	B	0.004	0.10090	B	0.002308	0.36806	N	0.274240	0.598337	0.32516	D	1.555	0.39373	L	0.76	0.49919	T	-0.29	0.11728	N	0.134	0.13055	-1.0399	0.17343	T	0.027	0.11663	T	10	0.002562523	0.00039	T	.	.	.	0.036	0.09122	0.082	0.00727	0.419120893867	0.41530	0.09094603233499485	0.09027	0.119961035255	0.13508	0.595509767532	0.52271	T	0.161351	0.50558	T	-0.623201	0.00105	T	-0.662835	0.08076	T	0.00641517580681053	0.00071	T	0.564843	0.19943	T	0.048516646	0.08469	0.043954805	0.05585	0.048516646	0.08469	0.043954805	0.05585	-4.533	0.31318	T	.	.	0.068	0.02927	B	.	.	0.590218	0.09587	6.361	0.9773257866454591	0.35628	0.54021	0.29513	D	AEFDBCI	0.148458	0.27235	N	-0.792189261923692	0.13512	0.6661994	-0.701094934289882	0.16933	0.8981051	0.997086383469621	0.35260	0.695654	0.57023	0	0.550933	0.16991	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.43	2.42	0.28720	0.270000	0.18372	1.421000	0.26364	-0.153000	0.12021	0.873000	0.30851	1.000000	0.68203	0.000000	0.00833	0.085:0.1529:0.7621:0.0	8.648	0.33180	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	0.005569	0.005882	0.010601	0.000000	0.050000	0.000000	0.000000	0.004808	0.07143	66.44	26	chr16	87689962	.	G	C	66.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.524;DP=199;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0;SOR=1.179	GT:AD:DP:GQ:PL	0/1:2,3:5:34:77,0,34	6	0	1	0
chr17	2375626	2375626	C	A	exonic	SGSM2	.	nonsynonymous SNV	SGSM2:NM_001098509:exon17:c.C2100A:p.F700L,SGSM2:NM_001346700:exon17:c.C2100A:p.F700L,SGSM2:NM_014853:exon18:c.C2235A:p.F745L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	0.0279362775324	.	.	8.269e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs113308954	1.368e-06	1.368e-06	0	2.75e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.608	0.05501	T	0.647	0.06948	T	0.986	0.65571	D	0.819	0.73157	P	0.000000	0.84330	D	0.000000	0.999966	0.52935	D	1.71	0.44315	L	2.75	0.11622	T	-0.8	0.24676	N	0.715	0.71765	-1.0554	0.12934	T	0.042	0.17869	T	10	0.20285776	0.36420	T	0.027936	0.50686	D	0.210	0.50028	0.15	0.05339	0.0846915920261	0.08053	0.21722610162973857	0.21638	0.426338953977	0.43007	0.772602260113	0.77815	T	0.009254	0.08439	T	-0.259118	0.13002	T	-0.513128	0.20995	T	0.229401041066081	0.21923	T	0.950405	0.81010	D	0.09084021	0.21269	0.09748153	0.23204	0.09084021	0.21269	0.09748153	0.23204	1.92	0.00056	T	.	.	0.906	0.87672	P	.;.;.	.;.;.	2.361714	0.30291	18.39	0.97469736795464013	0.34131	0.56307	0.30083	D	AEFDBI	0.501539	0.53433	D	-0.856498082265056	0.11890	0.5764055	-0.972106491747984	0.10414	0.5243814	0.999074693322547	0.38370	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.16	-3.0	0.05148	-0.822000	0.04555	-2.626000	0.03534	-1.022000	0.01727	0.032000	0.20554	0.000000	0.08366	0.972000	0.54974	0.0:0.6401:0.0:0.3599	12.318	0.54291	675	0.60470	.;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr17	2375626	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr17	3679660	3679660	C	T	exonic	P2RX5	.	nonsynonymous SNV	P2RX5:NM_001204520:exon10:c.G1117A:p.E373K,P2RX5:NM_175080:exon10:c.G1114A:p.E372K,P2RX5:NM_001204519:exon11:c.G1186A:p.E396K,P2RX5:NM_002561:exon11:c.G1189A:p.E397K	.	402	1087	32	1	0	34	0.0153986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	0.0048	0.0183706	0.0104	0.0035	0.0030	0.0511	0.0006	0.0042	0.0111	0.0274	0.0098964	1530	154602	rs61748727	0.0075	0.0075	0.0070	0.0081	0.0391	0.0074	0.0074	0.0375	0.0368	0.0030	0.0044	0.0110	0.0391	0.0004	0.0130	0.0051	0.0097	0.0289	0.0067	0.0067	0.0062	0.0073	0.0480	0.0064	0.0062	0.0431	0.0412	0.0024	0.0417	0.0085	0.0104	0.0480	0.0008	0.0136	0.0045	0.0061	0.0288	0.085	0.36709	T	0.459	0.15988	T	0.009	0.15093	B	0.005	0.11217	B	0.003163	0.00943	U	4.829560	1	0.08975	N	0.805	0.20218	L	3.58	0.07024	T	-1.03	0.27052	N	0.12	0.16864	-1.0207	0.23486	T	0.013	0.04985	T	10	0.0026265383	0.00040	T	.	.	.	0.027	0.05988	.	.	.	.	0.32909414989104496	0.32822	0.170619428235	0.19229	0.410854518414	0.26575	T	0.023551	0.24544	T	-0.619439	0.00111	T	-0.623828	0.10888	T	0.00460929252969279	0.00049	T	0.527447	0.17405	T	0.043295294	0.06722	0.04209709	0.04935	0.043295294	0.06721	0.04209709	0.04935	-4.164	0.26243	T	.	.	0.080	0.07650	B	.;.;.;.;.;.	.;.;.;.;.;.	0.632734	0.10012	6.765	0.94367969056869849	0.24731	0.04858	0.10594	N	AEFDBCI	0.039617	0.05780	N	-1.0453927655838	0.07678	0.3575069	-1.17833409566815	0.06273	0.3014294	0.0319125723097908	0.14028	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	2.99	-0.74	0.10555	0.032000	0.13620	-0.020000	0.12938	-0.896000	0.02358	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3352:0.286:0.3788	3.804	0.08288	814	0.42100	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014099	0.000000	0.009511	0.008772	0.050000	0.000000	0.012195	0.045455	0.07143	65.44	33	chr17	3679660	.	C	T	65.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.524;DP=213;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-1.645;SOR=1.179	GT:AD:DP:GQ:PL	0/1:2,3:5:34:76,0,34	6	0	1	0
chr17	4445108	4445108	G	T	exonic	SPNS3	.	nonsynonymous SNV	SPNS3:NM_182538:exon3:c.G342T:p.M114I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0218023767935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.093	0.39799	T	0.121	0.26708	B	0.122	0.32387	B	0.000184	0.48115	D	0.177041	0.998981	0.81001	D	1.03	0.25572	L	0.39	0.57419	T	-2.28	0.50830	N	0.384	0.42541	-0.9659	0.38033	T	0.118	0.41429	T	10	0.3567384	0.52406	T	0.021802	0.44617	T	0.102	0.29158	0.644	0.78117	0.281381271821	0.27740	0.4689228101294111	0.46811	0.215052530456	0.24039	0.388999402523	0.23529	T	0.219707	0.58278	T	-0.0933164	0.37527	T	-0.371819	0.36677	T	0.906210958957672	0.56017	D	0.660434	0.26965	T	0.43777785	0.63259	0.37441382	0.62607	0.43777785	0.63259	0.37441382	0.62607	-7.396	0.56876	T	.	.	0.263	0.49750	B	.	.	2.828218	0.37279	20.5	0.99050888627883249	0.51253	0.88104	0.47887	D	AEFDGBHCI	0.732908	0.67952	D	-0.273609210036551	0.30171	1.679828	-0.192656345341791	0.31806	1.803428	0.9999801222151	0.51787	0.516011	0.20929	0	0.610034	0.51514	0	0.59043	0.30614	0	0.631631	0.49550	0	.	.	4.51	3.51	0.39297	5.392000	0.66020	6.489000	0.55755	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.055000	0.15596	0.0:0.1665:0.8335:0.0	12.815	0.57040	716	0.55970	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	.	.	.	.	.	.	.	.	0.07143	44.44	33	chr17	4445108	.	G	T	44.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.05;DP=217;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.7;ReadPosRankSum=0.802;SOR=1.08	GT:AD:DP:GQ:PL	0/1:9,3:12:55:55,0,189	6	0	1	0
chr17	4789661	4789661	T	C	exonic	GLTPD2	.	nonsynonymous SNV	GLTPD2:NM_001375801:exon2:c.T430C:p.W144R,GLTPD2:NM_001014985:exon3:c.T322C:p.W108R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.667	0.160721538564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.99998	0.54805	D	3.205	0.89189	M	.	.	.	-11.22	0.99376	D	0.904	0.90476	-0.3181	0.74475	T	0.405	0.75487	T	9	0.9727106	0.96924	D	0.160722	0.84066	D	0.667	0.87625	0.811	0.92719	0.376745185316	0.37282	0.8541906621204258	0.85382	2.37714289507	0.96994	0.590726017952	0.51596	T	0.347147	0.71531	T	0.336709	0.85614	D	0.245883	0.85425	D	0.999921321868896	0.99732	D	0.536546	0.18022	T	0.8851049	0.90092	0.82128334	0.89621	0.8851049	0.90093	0.82128334	0.89622	-10.486	0.76767	D	.	.	0.931	0.85065	P	.	.	4.801620	0.78026	26.8	0.97841217850051043	0.36332	0.90233	0.51248	D	AEFDGBCI	0.769871	0.70499	D	0.43290596882862	0.63240	4.554048	0.309394967549986	0.56091	3.772058	0.999999927398761	0.74766	0.455138	0.09556	0	0.552344	0.17405	0	0.606884	0.38211	0	0.56751	0.32155	0	.	.	4.19	4.19	0.48645	3.416000	0.52463	7.772000	0.68491	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.100000	0.18284	0.0:0.0:0.0:1.0	9.797	0.39910	382	0.83637	Glycolipid transfer protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr17	4789661	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=205;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr17	4933907	4933923	ACCACCCCAGAGCCCAC	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	625	661	31	11	194	247	0.0385455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7280.03	66	chr17	4933907	.	ACCACCCCAGAGCCCAC	*	7280.03	.	AC=7;AF=0.5;AN=14;DP=857;ExcessHet=0.3476;FS=12.078;MLEAC=7;MLEAF=0.5;MQ=59.78;MQRankSum=0;QD=12.34;SOR=0.502	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,3:14:55:1|0:4933876_GGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA_G:516,297,268:4933876	1	1	5	0
chr17	5183886	5183886	T	C	exonic	ZNF594	.	nonsynonymous SNV	ZNF594:NM_032530:exon2:c.A371G:p.N124S	.	428	1091	3	0	0	3	0.001373	.	.	.	3635846	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.138	0.00170710645567	.	.	3.322e-05	0	0	0	0	1.503e-05	0	0.0002	2.59e-05	4	154602	rs757679321	3.353e-05	3.352e-05	3.132e-05	3.577e-05	0.0003	2.567e-05	2.313e-05	0.0002	0.0002	0	2.241e-05	0	0	0	0.0003	9.893e-06	9.941e-05	0.0003	4.595e-05	4.593e-05	3.854e-05	5.369e-05	0.0004	2.107e-05	1.526e-05	7.29e-05	3.029e-05	0	0	0	0	0	0	0.0068	4.41e-05	0	0.0004	0.014	0.53172	D	0.006	0.70582	D	0.276	0.31942	B	0.026	0.20792	B	.	.	.	.	0.999781	0.20372	N	0.69	0.16971	N	2.48	0.14657	T	-0.31	0.12099	N	0.041	0.02759	-0.9879	0.33126	T	0.015	0.06234	T	9	0.07601094	0.11819	T	0.001707	0.02856	T	0.138	0.37187	0.389	0.41115	0.21737058555	0.21362	0.0033473666600997193	0.00312	0.0144286539198	0.01369	0.274242013693	0.06702	T	8.5E-4	0.00427	T	-0.557597	0.00262	T	-0.759291	0.03138	T	0.056250497148511	0.06565	T	0.770023	0.39993	T	0.061879873	0.12862	0.07795803	0.17416	0.061879873	0.12862	0.07795803	0.17415	-4.192	0.26635	T	.	.	0.076	0.05935	B	.;.	.;.	2.011332	0.25557	16.81	0.77655837844794007	0.11967	0.03825	0.09167	N	AEBCI	0.317289	0.42132	N	-0.708949456640249	0.15769	0.79765	-0.73181531156047	0.16170	0.8541429	0.00165822802520911	0.08750	0.554377	0.28877	0	0.601575	0.49859	0	0.54472	0.12158	0	0.567892	0.33627	0	.	.	2.37	1.26	0.20534	3.586000	0.53696	1.214000	0.24928	0.665000	0.62972	0.995000	0.38783	0.003000	0.18671	0.003000	0.05239	0.0:0.1547:0.0:0.8453	5.409	0.15639	523	0.74147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	133.44	45	chr17	5183886	.	T	C	133.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.18;DP=260;ExcessHet=0;FS=6.854;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.83;ReadPosRankSum=-0.12;SOR=1.872	GT:AD:DP:GQ:PL	0/1:4,5:9:99:144,0,102	6	0	1	0
chr17	7324168	7324168	C	T	exonic	NEURL4	.	nonsynonymous SNV	NEURL4:NM_001005408:exon11:c.G2002A:p.V668I,NEURL4:NM_032442:exon11:c.G2002A:p.V668I	.	406	1114	2	0	0	2	0.000896861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.036525232217	0.0002	0.000199681	0.0005	0	0.0002	0.0001	0	0.0003	0	0.0025	0.0004463	69	154602	rs200658356	0.0003	0.0003	0.0002	0.0004	0.0023	0.0003	0.0002	0.0020	0.0019	0.0004	0.0002	0	0.0001	0	0.0009	0.0001	0.0003	0.0023	0.0001	0.0001	0.0002	9.4e-05	0.0008	9.142e-05	7.698e-05	0.0003	0.0002	4.811e-05	0	6.534e-05	0	0.0002	0	0.0136	0.0001	0	0.0008	0.034	0.44029	D	0.043	0.49942	D	0.988	0.62325	D	0.654	0.52604	P	0.000000	0.84330	D	0.000000	0.99244	0.41647	D	1.905	0.50856	L	-0.82	0.74053	T	-0.73	0.20576	N	0.383	0.42443	-0.2937	0.75161	T	0.376	0.73416	T	10	0.024805784	0.00696	T	0.036525	0.57047	D	0.309	0.63055	.	.	0.226560886239	0.22246	0.41259666267793244	0.41175	0.698823399972	0.60990	0.621321678162	0.55917	T	0.057234	0.30509	T	-0.372615	0.03464	T	-0.31356	0.43276	T	0.0549359491299894	0.06346	T	0.913909	0.69352	D	0.12104486	0.28471	0.08877538	0.20720	0.12104486	0.28471	0.08877538	0.20719	-10.482	0.76744	D	.	.	0.086	0.14431	B	.;.;.	.;.;.	4.192390	0.63195	24.6	0.99646157343262487	0.77005	0.95499	0.64964	D	AEFBCI	0.499225	0.53300	N	0.152492726386751	0.48929	3.099276	0.135545407302438	0.46379	2.884972	0.999997348653258	0.74766	0.712529	0.81865	0	0.779548	0.99637	0	0.779548	0.98927	0	0.691587	0.68394	0	.	.	5.56	4.59	0.56297	5.612000	0.67362	4.847000	0.45339	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.841:0.0:0.159	10.312	0.42898	429	0.80881	.;Neuralized homology repeat (NHR) domain|Neuralized homology repeat (NHR) domain;Neuralized homology repeat (NHR) domain|Neuralized homology repeat (NHR) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	67.44	33	chr17	7324168	.	C	T	67.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.792;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=-1.368;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,4:7:68:78,0,68	6	0	1	0
chr17	7824590	7824590	C	A	exonic	DNAH2	.	nonsynonymous SNV	DNAH2:NM_020877:exon77:c.C11716A:p.L3906M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.00890261032634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.472e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.34800	T	0.059	0.45961	T	0.952	0.54136	P	0.79	0.57710	P	0.000007	0.62929	D	0.000000	0.996452	0.43214	D	2.605	0.76211	M	1.97	0.22067	T	-1.86	0.43524	N	0.584	0.60749	-0.9339	0.43560	T	0.128	0.43666	T	10	0.55658543	0.64551	D	0.008903	0.23463	T	0.262	0.57482	0.755	0.88484	0.492749560936	0.48908	0.6015157006455834	0.60082	0.910590576776	0.71044	0.59761339426	0.52568	T	0.095076	0.39547	T	-0.0763556	0.40304	T	-0.347456	0.39495	T	0.970444977283478	0.68951	D	0.90321	0.73726	D	0.3560978	0.57538	0.4921084	0.70621	0.3560978	0.57538	0.4921084	0.70621	-7.598	0.58297	D	.	.	0.176	0.45714	B	.;.;.	.;.;.	3.503543	0.49029	22.7	0.99213340648980375	0.55655	0.89581	0.50137	D	AEFDBCI	0.220999	0.34568	N	0.382329619375689	0.60465	4.235633	0.287564973329394	0.54814	3.645232	0.739636425060787	0.23190	0.446893	0.09132	0	0.547309	0.14657	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.38	2.27	0.27501	1.614000	0.36522	0.796000	0.21614	0.587000	0.30956	0.996000	0.39380	0.788000	0.26838	0.999000	0.91618	0.0:0.8232:0.0:0.1768	10.223	0.42384	285	0.88719	Dynein heavy chain domain;Dynein heavy chain domain;Dynein heavy chain domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr17	7824590	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=205;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr17	8262977	8262977	C	G	exonic	PFAS	.	nonsynonymous SNV	PFAS:NM_012393:exon12:c.C1394G:p.A465G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.0134726014619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.006	0.70582	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.995	0.96723	H	2.35	0.16217	T	-3.41	0.67129	D	0.686	0.69213	-0.4486	0.70447	T	0.217	0.57915	T	10	0.9158735	0.90948	D	0.013473	0.32898	T	0.486	0.77464	0.767	0.89452	0.842154871969	0.84064	0.6627497621535783	0.66211	0.827336596938	0.67465	0.545911848545	0.45280	T	0.363471	0.72921	T	0.0369154	0.56639	T	-0.18475	0.56080	T	0.983383774757385	0.75071	D	0.992892	0.97700	D	0.8916072	0.90646	0.79855883	0.88179	0.8916072	0.90647	0.79855883	0.88179	-10.869	0.78934	D	.	.	0.539	0.66308	A	.	.	5.199760	0.87232	29.2	0.977500047512457	0.35739	0.98707	0.85832	D	AEFDBI	0.778269	0.71082	D	1.06542708750744	0.97439	16.13047	1.00215167624025	0.98669	18.97473	0.999999887663626	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	6.870000	0.75324	7.730000	0.67710	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	18.373	0.90364	501	0.75956	PurM-like, 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	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr17	8262977	.	C	G	33.22	.	AC=2;AF=0.143;AN=14;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr17	10303286	10303286	C	G	exonic	MYH13	.	nonsynonymous SNV	MYH13:NM_003802:exon39:c.G5577C:p.E1859D	.	420	1086	3	0	13	16	0.00137931	.	.	.	2218172	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.203	0.0225051242979	7.8e-05	.	0.0001	0	0	0	0	1.499e-05	0	0.0007	9.06e-05	14	154602	rs372224078	9.03e-05	9.029e-05	6.67e-05	0.0001	0.0024	7.756e-05	7.299e-05	0.0015	0.0012	0	0.0004	7.652e-05	0	0	0.0024	1.888e-05	0.0002	0.0007	5.913e-05	5.906e-05	2.571e-05	9.407e-05	0.0006	3.077e-05	2.21e-05	0.0002	9.007e-05	2.407e-05	0	0.0003	0	0	0	0	1.471e-05	0	0.0006	0.05	0.39575	D	0.265	0.22694	T	0.092	0.25296	B	0.246	0.38861	B	.	.	.	.	0.992	0.23951	N	1.84	0.48285	L	-1.47	0.81067	T	-1.68	0.40082	N	0.259	0.33578	-0.6439	0.62979	T	0.374	0.73265	T	9	0.06759086	0.09438	T	0.022505	0.45406	T	0.203	0.48915	0.742	0.87401	0.553672381021	0.55024	0.25265911101417526	0.25179	0.473008986637	0.46537	0.542987108231	0.44868	T	0.219543	0.58258	T	-0.367911	0.03700	T	-0.379242	0.35812	T	0.104151883513963	0.12807	T	0.821218	0.48050	T	0.10100979	0.23857	0.12381383	0.29852	0.10100979	0.23857	0.12381383	0.29851	-5.661	0.43344	T	.	.	0.149	0.32992	B	.;.;.	.;.;.	2.183880	0.27838	17.60	0.98945205653397073	0.49016	0.32939	0.24707	N	AEFBI	0.498294	0.53246	N	-0.6567653276493	0.17263	0.8868456	-0.627821792978627	0.18780	1.004707	5.86033939185107E-6	0.01202	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.81	1.79	0.23992	-0.578000	0.05933	-0.418000	0.09303	-0.177000	0.10537	0.054000	0.21560	0.059000	0.21998	0.965000	0.52897	0.0:0.5685:0.182:0.2495	4.696	0.12186	90	0.96275	Myosin tail;Myosin tail;Myosin tail	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.07143	79.44	35	chr17	10303286	.	C	G	79.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.398;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.83;ReadPosRankSum=-0.725;SOR=1.179	GT:AD:DP:GQ:PL	0/1:5,4:9:90:90,0,113	6	0	1	0
chr17	12752735	12752735	G	A	exonic	MYOCD	.	nonsynonymous SNV	MYOCD:NM_001146312:exon10:c.G1447A:p.G483S,MYOCD:NM_153604:exon10:c.G1447A:p.G483S,MYOCD:NM_001378306:exon11:c.G1210A:p.G404S	.	408	1112	2	0	0	2	0.000898473	.	.	.	726983	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.045	.	0.0056	0.00479233	0.0023	0.0151	0.0010	0.0001	0	0.0016	0.0011	0	0.0021733	336	154602	rs28730823	0.0012	0.0012	0.0013	0.0012	0.0155	0.0012	0.0012	0.0144	0.0140	0.0155	0.0014	0.0251	0	0	0.0028	0.0003	0.0040	2.319e-05	0.0056	0.0056	0.0059	0.0053	0.0165	0.0053	0.0052	0.0155	0.0150	0.0165	0	0.0028	0.0259	0	0	0	0.0004	0.0066	0	0.742	0.06502	T	0.854	0.11153	T	0.942	0.52977	P	0.489	0.47308	P	0.003792	0.34487	N	0.337536	0.926558	0.42258	D	1.635	0.41844	L	0.92	0.45636	T	-0.54	0.16598	N	0.16	0.16725	-1.1054	0.03497	T	0.037	0.15943	T	10	0.0042532384	0.00085	T	.	.	.	0.045	0.12272	.	.	0.604221974643	0.60105	0.21384719930071788	0.21300	0.128176617128	0.14447	0.343289285898	0.16929	T	0.197655	0.55440	T	-0.565725	0.00234	T	-0.572427	0.15228	T	0.00922002506774415	0.00117	T	0.888511	0.61827	D	0.027434807	0.01935	0.040505446	0.04392	0.03204305	0.03156	0.048358075	0.07165	-0.884	0.00885	T	0.14941420791719467	0.17471	0.065	0.04764	B	.;.;.	.;.;.	2.247077	0.28697	17.88	0.8802789523588419	0.17662	0.86208	0.45445	D	AEFDBI	0.401773	0.47613	N	-0.293049507374275	0.29415	1.631056	-0.33697767070306	0.26915	1.489931	3.9449524579174E-4	0.06820	0.487112	0.14033	0	0.573888	0.26702	0	0.573078	0.19857	0	0.564101	0.26826	0	.	.	5.45	0.953	0.18714	1.945000	0.39900	2.446000	0.32792	0.618000	0.50648	0.680000	0.28438	0.996000	0.32793	0.242000	0.23054	0.1325:0.0:0.5878:0.2796	6.250	0.20047	941	0.13089	.;.;.	.	.	.	.	.	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	0.008560	0.030303	0.010870	0.002924	0.000000	0.017241	0.003049	0.000000	0.07143	100.44	33	chr17	12752735	.	G	A	100.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.37;DP=217;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=0.697;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,4:7:38:111,0,38	6	0	1	0
chr17	16432176	16432178	TGC	-	exonic	TRPV2	.	nonframeshift deletion	TRPV2:NM_016113:exon12:c.1865_1867del:p.L627del	.	417	1102	3	0	0	3	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0084	0.0071	0.0099	0.0061	0.0035	0.0075	0.0045	0.0155	0.0008452	22	26028	rs769135234	5.272e-05	0.0069	4.825e-05	5.725e-05	0.0004	4.318e-05	3.943e-05	6.165e-05	4.079e-05	3.03e-05	2.292e-05	0	5.137e-05	7.604e-05	0.0004	5.647e-05	5.048e-05	1.182e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	61.4	45	chr17	16432175	.	GTGC	G	61.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.842;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:4,2:6:72:72,0,160	6	0	1	0
chr17	18251742	18251742	G	-	exonic	FLII	.	frameshift deletion	FLII:NM_001256265:exon11:c.1156delC:p.Q386Rfs*6,FLII:NM_001256264:exon12:c.1288delC:p.Q430Rfs*6,FLII:NM_002018:exon12:c.1321delC:p.Q441Rfs*6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	52.4	35	chr17	18251741	.	TG	T	52.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=213;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:63:63,0,63	6	0	1	0
chr17	31937518	31937518	A	G	exonic	SUZ12	.	nonsynonymous SNV	SUZ12:NM_001321207:exon1:c.A272G:p.E91G,SUZ12:NM_015355:exon1:c.A272G:p.E91G	.	.	.	.	.	.	.	.	0.4032	0.472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.509	0.170372519855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.209e-07	5.472e-06	1.424e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.732e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.001	0.83351	D	0.998	0.73220	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.01	0.54746	M	1.34	0.34841	T	-6.12	0.90060	D	0.682	0.68863	-0.7288	0.59024	T	0.198	0.55372	T	10	0.7808726	0.77843	D	0.170373	0.84795	D	0.509	0.78910	0.784	0.90768	0.491313100916	0.48765	0.7602202627386682	0.75970	1.87614662658	0.92565	0.852665781975	0.90016	D	0.649718	0.89356	D	0.105834	0.64917	D	-0.085753	0.64480	T	0.994472324848175	0.85785	D	0.972478	0.91107	D	0.82575995	0.85610	0.6234578	0.78057	0.82575995	0.85611	0.6234578	0.78058	-12.768	0.88384	D	0.7932016312448855	0.87129	0.997	0.96796	P	.;.	.;.	5.797117	0.93596	33	0.98623559356824397	0.43812	0.95022	0.63154	D	AEFDGBCI	0.919732	0.89067	D	0.705760167248634	0.80010	7.200528	0.686738845766392	0.81371	7.51103	0.999999999993103	0.74766	0.733237	0.96898	0	0.600757	0.49542	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	5.13	5.13	0.69729	7.740000	0.83913	10.942000	0.84347	0.684000	0.82519	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.929	0.70547	955	0.09969	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	35	chr17	31937518	.	A	G	33.22	.	AC=2;AF=0.143;AN=14;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr17	37632285	37632285	C	T	exonic	DDX52	.	nonsynonymous SNV	DDX52:NM_007010:exon4:c.G431A:p.R144Q,DDX52:NM_001291476:exon5:c.G107A:p.R36Q	.	437	1083	2	0	0	2	0.000922509	.	.	.	2330972	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.217	0.0110498522596	.	.	.	.	.	.	.	.	.	.	.	.	.	rs764659877	7.525e-06	7.524e-06	8.167e-06	6.876e-06	0.0002	4.04e-06	2.95e-06	9.9e-06	3.7e-06	5.975e-05	0	0	2.52e-05	0	0.0002	5.396e-06	1.656e-05	0	6.588e-06	6.572e-06	0	1.349e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	0.005	0.72224	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	.	.	.	.	.	.	.	.	.	0.87	0.86725	-0.9140	0.46351	T	0.130	0.43927	T	10	0.76930785	0.76953	D	0.01105	0.28270	T	.	.	0.5	0.59147	0.588979369553	0.58573	0.6107710063428559	0.61009	.	.	0.428804725409	0.29045	T	.	.	.	0.0219378	0.54642	T	-0.0371361	0.67894	D	0.987174928188324	0.77723	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.446	0.61983	A	.	.	5.516339	0.91734	32	0.99951340477814166	0.99944	0.99154	0.92024	D	AEFBI	0.544415	0.55935	D	0.811532322044415	0.86824	9.010406	0.765726946365832	0.87328	9.183912	0.962360393168785	0.28618	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.55	4.54	0.55220	5.717000	0.68096	5.905000	0.50941	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.1435:0.8565:0.0:0.0	14.908	0.70381	47	0.97709	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	65.22	33	chr17	37632285	.	C	T	65.22	.	AC=2;AF=0.143;AN=14;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=32.61;SOR=2.303	GT:AD:DP:GQ:PL	1/1:0,2:2:6:81,6,0	6	1	0	0
chr17	40193736	40193736	A	G	exonic	RAPGEFL1	.	nonsynonymous SNV	RAPGEFL1:NM_001303533:exon15:c.A1484G:p.N495S,RAPGEFL1:NM_001303534:exon15:c.A1466G:p.N489S,RAPGEFL1:NM_016339:exon15:c.A1937G:p.N646S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0329810970388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.23007	T	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.65	0.27650	T	-3.0	0.62343	D	0.306	0.34552	-0.8063	0.54772	T	0.186	0.53646	T	10	0.21048144	0.37445	T	0.032981	0.54655	D	0.160	0.41473	0.382	0.39970	0.082315109003	0.07666	0.4491345634704637	0.44831	.	.	0.635720670223	0.57957	T	0.103016	0.43304	T	-0.066179	0.41935	T	-0.332838	0.41152	T	0.980366289615631	0.73320	D	0.811219	0.46271	T	.	.	.	.	.	.	.	.	-6.867	0.55832	T	.	.	0.224	0.51934	B	.;.;.;.	.;.;.;.	4.722235	0.75979	26.4	0.99841872862950687	0.92229	0.97137	0.72907	D	AEFDGBI	0.671364	0.63813	D	0.622795257325815	0.74617	6.163467	0.620783962928401	0.76453	6.493449	0.999999995304286	0.74766	0.722319	0.85440	0	0.659037	0.61890	0	0.698795	0.65105	0	0.635551	0.53088	0	.	.	5.48	5.48	0.80675	4.777000	0.62054	11.265000	0.91209	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	14.559	0.67711	260	0.89800	.;Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;.;Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	102.44	35	chr17	40193736	.	A	G	102.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.355;DP=235;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=-0.298;SOR=0.85	GT:AD:DP:GQ:PL	0/1:5,5:10:99:113,0,109	6	0	1	0
chr17	41105840	41105840	G	A	exonic	KRTAP4-9;LOC100996750	.	nonsynonymous SNV	KRTAP4-9:NM_001146041:exon1:c.G452A:p.R151H,LOC100996750:NM_001365252:exon2:c.G437A:p.R146H	.	406	1085	31	0	0	31	0.0140845	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00611340246952	.	0.000998403	0.0006	0.0053	0.0002	0.0010	0	5.124e-05	0	0.0009	0.000401	62	154602	rs538241229	0.0004	0.0007	0.0003	0.0004	0.0071	0.0003	0.0003	0.0064	0.0061	0.0071	0.0005	3.85e-05	0.0014	0	0.0004	6.86e-05	0.0006	0.0010	0.0024	0.0058	0.0025	0.0024	0.0082	0.0022	0.0021	0.0075	0.0072	0.0082	0	0.0007	0.0003	0.0008	0	0	0.0001	0	0.0011	0.099	0.30656	T	0.089	0.40426	T	0.003	0.11197	B	0.001	0.04355	B	0.586011	0.05564	N	1.407670	1	0.08975	N	1.945	0.52268	M	6.27	0.00562	T	-2.83	0.59710	D	0.082	0.14054	-0.8668	0.50768	T	0.003	0.01092	T	10	0.006554723	0.00149	T	0.006113	0.15993	T	0.056	0.15993	.	.	0.0954503805726	0.09146	0.049534052917623625	0.04896	0.221867951472	0.24722	0.184167638421	0.00138	T	0.041834	0.25987	T	-0.672734	0.00053	T	-0.733562	0.04168	T	0.0181985586081498	0.00541	T	0.0573943	0.00475	T	0.04352815	0.06798	0.06497193	0.13102	0.04352815	0.06798	0.06497193	0.13101	-7.893	0.60339	D	.	.	0.102	0.18910	B	.;.	.;.	1.974451	0.25085	16.63	0.95294399281926812	0.26605	0.01576	0.05139	N	AEFGBI	0.031699	0.03440	N	-0.750597956960849	0.14617	0.7296202	-0.844697173013674	0.13414	0.6957837	3.92456541770032E-4	0.06820	0.446893	0.09132	0	0.563428	0.19063	0	0.491513	0.07944	0	0.613276	0.41899	0	.	.	3.18	1.09	0.19517	-0.814000	0.04593	-1.350000	0.05649	0.352000	0.19979	0.000000	0.06391	0.000000	0.08366	0.029000	0.12982	0.25:0.2029:0.5471:0.0	3.801	0.08276	286	0.88678	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	58.44	39	chr17	41105840	.	G	A	58.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.834;DP=482;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=50.32;MQRankSum=-1.981;QD=8.35;ReadPosRankSum=-0.842;SOR=0.148	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:69:0|1:41105831_A_C:69,0,196:41105831	6	0	1	0
chr17	41690169	41690169	A	-	exonic	EIF1	.	frameshift deletion	EIF1:NM_005801:exon3:c.277delA:p.I93Yfs*6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	37.4	34	chr17	41690168	.	CA	C	37.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.23;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.4;ReadPosRankSum=0.473;SOR=0.527	GT:AD:DP:GQ:PL	0/1:9,2:11:48:48,0,330	6	0	1	0
chr17	42676407	42676407	C	A	exonic	PLEKHH3	.	nonsynonymous SNV	PLEKHH3:NM_024927:exon1:c.G157T:p.G53W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.420	0.141390433106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	0.983	0.75793	D	0.001724	0.38161	N	0.000000	0.701873	0.30095	N	1.735	0.44892	L	-1.94	0.87352	D	-1.31	0.32791	N	0.515	0.54584	0.375	0.88720	D	0.686	0.89154	D	10	0.42787528	0.57295	T	0.14139	0.82381	D	0.420	0.72930	0.272	0.22210	0.772265227283	0.77017	0.537642351527523	0.53689	0.735765669961	0.62971	0.690444946289	0.65770	T	0.037198	0.24386	T	0.17257	0.71359	D	0.0101091	0.70989	D	0.939823687076569	0.61162	D	0.749925	0.42806	T	0.3361436	0.55970	0.384622	0.63399	0.3361436	0.55970	0.384622	0.63399	-6.118	0.47256	T	.	.	0.169	0.48282	B	.;.;.	.;.;.	4.868290	0.79736	27.2	0.99551225062559712	0.71148	0.81684	0.41038	D	ALL	0.831284	0.74985	D	0.525831287386062	0.68622	5.242633	0.528642331195756	0.69926	5.430483	0.999999999555808	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.372554	0.06265	0	.	.	4.52	4.52	0.54797	1.582000	0.36177	3.925000	0.40497	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	14.150	0.64916	349	0.85513	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	35	chr17	42676407	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=202;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr17	50465849	50465849	C	T	exonic	CHAD	.	nonsynonymous SNV	CHAD:NM_001267:exon2:c.G796A:p.G266S	.	436	1085	1	0	0	1	0.000460617	.	.	.	2367580	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.292	0.0136850351966	.	0.000199681	8.237e-06	0	8.637e-05	0	0	0	0	0	1.29e-05	2	154602	rs185669452	1.779e-05	1.779e-05	1.77e-05	1.788e-05	0.0009	1.237e-05	1.051e-05	0.0003	0.0003	0.0005	2.236e-05	0	0	0	0.0009	0	4.967e-05	0	0.0001	0.0001	0.0001	9.442e-05	0.0003	6.529e-05	5.337e-05	0.0002	0.0002	0.0003	0	6.564e-05	0	0	0	0	0	0.0005	0	0.008	0.58626	D	0.171	0.30339	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.195	0.30194	L	3.63	0.04353	T	-4.1	0.74900	D	0.432	0.47301	-1.1912	0.00229	T	0.043	0.18576	T	10	0.38955295	0.54791	T	0.013685	0.33266	T	0.292	0.61157	.	.	0.718586594058	0.71611	0.6160838301256968	0.61540	1.20088527153	0.80543	0.725880682468	0.70905	T	0.205932	0.56513	T	0.0463719	0.57874	T	-0.0883011	0.64289	T	0.987503111362457	0.77986	D	0.883312	0.60567	D	0.7793842	0.82616	0.57680494	0.75480	0.7793842	0.82618	0.57680494	0.75480	-5.803	0.44600	T	.	.	0.537	0.66709	A	.;.	.;.	4.908930	0.80750	27.4	0.99892228817636042	0.96589	0.98109	0.79674	D	AEFDGBI	0.891217	0.82698	D	0.699320229247643	0.79588	7.109398	0.686082269720067	0.81322	7.499498	0.999999999982794	0.74766	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	4.97	4.97	0.65419	5.775000	0.68569	7.660000	0.64180	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.424	0.90551	894	0.26265	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	66.44	35	chr17	50465849	.	C	T	66.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.524;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=1.04;SOR=1.179	GT:AD:DP:GQ:PL	0/1:2,3:5:34:77,0,34	6	0	1	0
chr17	58203086	58203086	A	T	exonic	EPX	.	nonsynonymous SNV	EPX:NM_000502:exon11:c.A1714T:p.N572Y	.	1	1414	102	5	0	112	0.0380952	.	.	.	704251	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.714	.	0.0052	0.0131789	0.0097	0.0010	0.0026	0.0404	0.0005	0.0057	0.0100	0.0242	0.0090426	1398	154602	rs2302311	0.0072	0.0072	0.0066	0.0079	0.0356	0.0071	0.0071	0.0341	0.0335	0.0011	0.0028	0.0041	0.0356	0.0005	0.0262	0.0055	0.0089	0.0238	0.0060	0.0060	0.0057	0.0064	0.0363	0.0057	0.0056	0.0320	0.0304	0.0013	0.0175	0.0037	0.0063	0.0363	0.0005	0.0136	0.0064	0.0052	0.0255	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.81110	D	0.000087	0.51296	D	0.229393	0.999894	0.50595	D	3.395	0.91620	M	-0.89	0.74793	T	-7.26	0.94377	D	0.855	0.85132	0.222	0.86286	D	0.428	0.77055	T	10	0.011209935	0.00246	T	.	.	.	0.714	0.89831	.	.	0.907641921367	0.90672	0.9397424012326949	0.93955	0.60966715383	0.55685	0.618428587914	0.55507	T	0.73717	0.92690	D	0.0215653	0.54591	T	0.293971	0.87906	D	0.0441071641916809	0.04439	T	0.918408	0.70674	D	0.93080324	0.94318	0.9297195	0.97075	0.91762865	0.93020	0.9297195	0.97076	-10.78	0.78437	D	0.6057418395158497	0.67300	0.721	0.73813	P	.	.	4.624316	0.73463	26.0	0.9931117169918775	0.59017	0.98284	0.81251	D	AEFDHI	0.846482	0.76336	D	0.902057263412658	0.91858	11.10306	0.8354303646208	0.92136	11.25628	0.995667577349472	0.34254	0.533608	0.22052	0	0.593476	0.48661	0	0.685742	0.62368	0	0.613276	0.41899	0	.	.	5.83	5.83	0.93059	5.936000	0.69869	9.239000	0.79409	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	14.155	0.64945	569	0.70546	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.022659	0.010101	0.013587	0.020468	0.000000	0.025862	0.036585	0.037879	0.2143	1365.72	34	chr17	58203086	.	A	T	1365.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.24;DP=244;ExcessHet=1.1394;FS=3.788;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.122;SOR=1.164	GT:AD:DP:GQ:PL	0/1:2,2:4:70:74,0,70	4	0	3	0
chr17	58304395	58304395	G	T	exonic	TSPOAP1	.	nonsynonymous SNV	TSPOAP1:NM_024418:exon30:c.C5369A:p.T1790K,TSPOAP1:NM_001261835:exon31:c.C5522A:p.T1841K,TSPOAP1:NM_004758:exon31:c.C5549A:p.T1850K	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.0194287052185	.	.	.	.	.	.	.	.	.	.	.	.	.	rs201347578	6.845e-07	6.841e-07	1.362e-06	0	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	6.573e-06	6.568e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.002	0.72154	D	0.212	0.26549	T	0.688	0.41582	P	0.148	0.34065	B	.	.	.	.	1	0.81001	D	2.075	0.57047	M	3.66	0.04267	T	-0.95	0.25332	N	0.399	0.43995	-0.8433	0.52426	T	0.009	0.03271	T	9	0.14831519	0.28089	T	0.019429	0.41790	T	0.031	0.07369	0.28	0.23483	0.323886383625	0.31992	0.42843843382245383	0.42760	0.32203709392	0.34400	0.539078474045	0.44316	T	0.012092	0.10690	T	-0.153484	0.27767	T	-0.458246	0.26790	T	0.437036510258988	0.30320	T	0.751925	0.37414	T	0.15880954	0.35708	0.15426868	0.36213	0.15880954	0.35708	0.15426868	0.36213	-3.224	0.12776	T	.	.	0.175	0.39832	B	.;.;.	.;.;.	2.270407	0.29022	17.99	0.97295524277120793	0.33252	0.32541	0.24610	N	AEFDGBHCI	0.336285	0.43445	N	-0.239186249697593	0.31538	1.769379	-0.169628029975739	0.32661	1.860363	0.999999999997169	0.74766	0.696267	0.57585	0	0.637152	0.57089	0	0.459711	0.06710	0	0.691587	0.68394	0	.	.	5.22	0.387	0.15484	0.449000	0.21459	-0.347000	0.09772	0.604000	0.46097	1.000000	0.71638	0.003000	0.18671	0.999000	0.91618	0.3659:0.1939:0.4403:0.0	3.519	0.07294	310	0.87484	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	127.25	34	chr17	58304395	.	G	T	127.25	.	AC=2;AF=0.143;AN=14;DP=227;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=21.21;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,6:6:18:148,18,0	6	1	0	0
chr17	74763472	74763472	G	A	exonic	SLC9A3R1	.	nonsynonymous SNV	SLC9A3R1:NM_004252:exon3:c.G709A:p.E237K	Nephrolithiasis/osteoporosis, hypophosphatemic, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1013109	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.148	0.0266908402685	7.7e-05	.	1.186e-05	0	0	0	0	2.15e-05	0	0	6.5e-06	1	154602	rs369327875	3.837e-05	3.831e-05	3.135e-05	4.546e-05	0.0003	3.03e-05	2.723e-05	6.096e-05	3.374e-05	2.99e-05	0	0	0	0	0.0003	4.77e-05	0	0	3.941e-05	3.94e-05	6.42e-05	1.344e-05	5.879e-05	1.715e-05	1.129e-05	1.972e-05	1.124e-05	4.822e-05	0	0	0	0	0	0	5.879e-05	0	0	0.066	0.36113	T	0.212	0.27325	T	0.757	0.43436	P	0.148	0.34065	B	0.004789	0.33389	N	0.268590	0.959908	0.39191	D	2.32	0.66415	M	1.55	0.29866	T	-2.34	0.51811	N	0.643	0.72925	-1.0343	0.19078	T	0.073	0.29578	T	9	0.50283545	0.61648	D	0.026691	0.49576	D	0.148	0.39182	.	.	0.257292322809	0.25322	0.47891487994150506	0.47811	0.310324487314	0.33353	0.463895857334	0.33844	T	0.375851	0.73937	T	-0.224548	0.17376	T	-0.373152	0.36521	T	0.26351536313275	0.23468	T	0.957404	0.83962	D	0.1681744	0.37259	0.13780713	0.32929	0.1681744	0.37258	0.13780713	0.32928	-9.301	0.69613	D	.	.	0.193	0.41310	B	.;.	.;.	4.254431	0.64600	24.7	0.98617135626638264	0.43718	0.95646	0.65559	D	AEFDBCIJ	0.882594	0.81085	D	0.205975655394746	0.51488	3.329657	0.222246539675045	0.51084	3.294046	0.999999999868811	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.45	4.48	0.53973	6.371000	0.73054	9.810000	0.81742	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.671000	0.33280	0.0762:0.0:0.7747:0.149	8.792	0.34016	707	0.57054	EBP50, 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	0.001012	0.000000	0.000000	0.002941	0.000000	0.008621	0.000000	0.000000	0.07143	68.44	38	chr17	74763472	.	G	A	68.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.674;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.11;ReadPosRankSum=-1.15;SOR=0.446	GT:AD:DP:GQ:PL	0/1:1,3:4:30:79,0,30	6	0	1	0
chr17	75621533	75621535	TGA	-	exonic	MYO15B	.	nonframeshift deletion	MYO15B:NM_001309242:exon51:c.7854_7856del:p.D2620del	.	413	1105	4	0	0	4	0.00180668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0.0005	0	0.0003	9.7e-05	15	154602	rs748336648	0.0004	0.0003	0.0003	0.0004	0.0005	0.0003	0.0003	0.0004	0.0004	6.332e-05	0.0001	0	0	0.0006	0.0002	0.0005	0.0003	7.966e-05	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	4.824e-05	0	0	0	0	0.0002	0	0.0006	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	70.4	31	chr17	75621532	.	GTGA	G	70.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.967;DP=198;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=23.47;ReadPosRankSum=0;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:36:81,0,36	6	0	1	0
chr17	78214417	78214417	C	-	exonic	BIRC5	.	frameshift deletion	BIRC5:NM_001012270:exon1:c.101delC:p.P35Rfs*46,BIRC5:NM_001012271:exon1:c.101delC:p.P35Rfs*85,BIRC5:NM_001168:exon1:c.101delC:p.P35Rfs*40	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	31.4	34	chr17	78214416	.	AC	A	31.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.812;DP=257;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.49;ReadPosRankSum=0;SOR=0.495	GT:AD:DP:GQ:PL	0/1:7,2:9:42:42,0,208	6	0	1	0
chr17	78492729	78492729	T	G	exonic	DNAH17	.	nonsynonymous SNV	DNAH17:NM_173628:exon42:c.A6445C:p.K2149Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.0234617442024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	6.84e-07	0	1.377e-06	1.163e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.163e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.810899	0.29002	N	.	.	.	1.04	0.40218	T	.	.	.	0.303	0.34228	-0.8144	0.54282	T	0.181	0.52889	T	7	0.28432316	0.46014	T	0.023462	0.46421	T	0.113	0.31778	.	.	0.194818534648	0.19098	0.46483694420414756	0.46402	.	.	0.584488272667	0.50717	T	.	.	.	-0.207438	0.19742	T	-0.535747	0.18716	T	0.582715534760407	0.35723	D	0.880912	0.59977	D	0.1419046	0.32679	0.15484706	0.36324	0.1419046	0.32679	0.15484706	0.36323	-12.003	0.84866	D	0.4155911409026748	0.50519	0.103	0.18580	B	.;.	.;.	4.063719	0.60331	24.2	0.99418634036194242	0.63645	0.90918	0.52509	D	AEFDBI	0.593922	0.58906	D	0.184182615442268	0.50440	3.233949	0.179895007034478	0.48745	3.08647	0.243099970432267	0.18594	0.634777	0.41761	0	0.643519	0.57511	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.74	3.64	0.40864	3.883000	0.55880	4.148000	0.42131	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.762000	0.36218	0.0:0.0:0.1521:0.8479	11.355	0.48848	908	0.22609	ATPase, dynein-related, AAA domain;ATPase, dynein-related, AAA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	67.44	33	chr17	78492729	.	T	G	67.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.792;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=-1.465;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,4:7:69:78,0,69	6	0	1	0
chr17	78558165	78558165	G	T	exonic	DNAH17	.	nonsynonymous SNV	DNAH17:NM_173628:exon14:c.C2121A:p.N707K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.0211349575287	.	.	8.484e-06	0	8.983e-05	0	0	0	0	0	6.5e-06	1	154602	rs201170230	6.842e-07	6.84e-07	0	1.376e-06	2.238e-05	0	0	.	.	0	2.238e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.508	0.07545	T	.	.	.	.	.	.	.	.	.	0.891765	0.08682	U	0.935307	0.982917	0.24926	N	1.175	0.29870	L	0.58	0.54149	T	-1.33	0.33197	N	0.353	0.39558	-1.0012	0.29574	T	0.099	0.36957	T	10	0.074055254	0.11269	T	0.021135	0.43862	T	0.031	0.07369	.	.	0.0551355673512	0.04727	0.17295314848951168	0.17215	.	.	0.454461336136	0.32553	T	0.002842	0.02237	T	-0.405756	0.02121	T	-0.651489	0.08850	T	0.0497904755175114	0.05464	T	0.625137	0.24143	T	0.13162793	0.30675	0.20811763	0.45100	0.13162793	0.30675	0.20811763	0.45099	-5.26	0.39546	T	.	.	0.191	0.40968	B	.;.	.;.	-0.164848	0.03276	0.560	0.92971033820269122	0.22550	0.03220	0.08227	N	AEFDGBHCI	0.115976	0.22781	N	-0.99765071762215	0.08654	0.406581	-0.989679325210261	0.10016	0.5018434	0.999997535714228	0.74766	0.580535	0.33130	0	0.626922	0.53725	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	5.14	-1.87	0.07317	-1.921000	0.01661	-4.609000	0.02071	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.977000	0.56843	0.5801:0.0:0.4199:0.0	10.459	0.43756	884	0.28482	Dynein heavy chain, domain-1;Dynein heavy chain, domain-1	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	131.44	38	chr17	78558165	.	G	T	131.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.72;DP=239;ExcessHet=0;FS=3.136;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.78;ReadPosRankSum=-0.484;SOR=1.492	GT:AD:DP:GQ:PL	0/1:3,4:7:69:142,0,69	6	0	1	0
chr17	80295557	80295557	G	A	exonic	RNF213	.	nonsynonymous SNV	RNF213:NM_001256071:exon10:c.G1756A:p.V586M,RNF213:NM_020954:exon10:c.G1756A:p.V586M	.	.	.	.	.	.	.	.	0.2121	0.414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.0804710953068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.91255	D	0.008	0.92824	D	.	.	.	.	.	.	0.000069	0.52346	D	0.000000	0.863587	0.28318	N	2.08	0.57402	M	1.41	0.33412	T	-1.48	0.38345	N	0.451	0.53093	-0.6856	0.61113	T	0.268	0.63950	T	8	0.4909803	0.60990	T	0.080471	0.73467	D	0.158	0.41098	.	.	0.715633265667	0.71313	.	.	0.403563881529	0.41289	0.47725263238	0.35679	T	0.031762	0.22187	T	-0.0642889	0.42233	T	-0.330123	0.41455	T	0.53758826158176	0.34015	D	0.775622	0.40735	T	.	.	.	.	.	.	.	.	-4.06	0.24698	T	.	.	0.187	0.40311	B	.;.;.	.;.;.	3.393467	0.46997	22.4	0.86043292581667208	0.16276	0.94570	0.61596	D	AEFGBI	0.466382	0.51405	N	0.486866676207165	0.66324	4.935214	0.371965880834663	0.59842	4.165623	0.184105291832392	0.17911	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.1	4.1	0.47196	4.939000	0.63227	7.472000	0.59162	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.164000	0.20782	0.0:0.0:1.0:0.0	12.604	0.55866	873	0.30802	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	111.4	24	chr17	80295557	.	G	A	111.4	.	AC=2;AF=0.143;AN=14;DP=180;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=27.85;SOR=1.609	GT:AD:DP:GQ:PL	1/1:0,4:4:12:131,12,0	6	1	0	0
chr17	81461746	81461746	C	A	exonic	BAHCC1	.	stopgain	BAHCC1:NM_001377448:exon26:c.C7083A:p.C2361X,BAHCC1:NM_001291324:exon27:c.C7176A:p.C2392X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000417	0.44736	D	0.094726	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.142	0.14622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.510359	0.94595	D	0.495319	0.94515	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	9.203809	0.98611	40	0.99109435177654626	0.52674	0.88682	0.48726	D	AEFDGBHCI	0.382214	0.46418	N	0.431794431612753	0.63178	4.546648	0.232024405155258	0.51634	3.344151	0.999998107939492	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.576033	0.28219	0	0.699875	0.68795	0	.	.	4.58	0.85	0.18119	0.372000	0.20199	0.184000	0.15665	0.545000	0.25583	0.995000	0.38783	0.973000	0.29867	0.993000	0.69303	0.0:0.6142:0.0:0.3858	8.685	0.33393	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	26	chr17	81461746	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=197;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr17	82093639	82093639	G	A	exonic	FASN	.	nonsynonymous SNV	FASN:NM_004104:exon4:c.C413T:p.A138V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.461	0.04545105289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.007	0.69154	D	1.0	0.90584	D	0.969	0.72001	D	0.000195	0.48115	D	0.135161	1	0.81001	D	2.665	0.77964	M	1.57	0.29342	T	-2.9	0.60827	D	0.941	0.94786	-0.3443	0.73719	T	0.256	0.62609	T	10	0.89938986	0.89297	D	0.045451	0.61989	D	0.461	0.75822	0.817	0.93127	0.553962910194	0.55055	0.9628203690014785	0.96269	.	.	0.562062859535	0.47558	T	0.745361	0.92980	D	0.106725	0.65010	D	-0.0844738	0.64575	T	0.973181128501892	0.69994	D	0.968003	0.94093	D	0.5053191	0.67406	0.30141622	0.56174	0.5053191	0.67407	0.30141622	0.56173	-9.985	0.73822	D	.	.	0.762	0.76533	P	.;.;.	.;.;.	5.021048	0.83447	28.0	0.99932098447316575	0.99439	0.99574	0.97595	D	AEFDBHCI	0.947828	0.95881	D	0.717833449905371	0.80802	7.375569	0.586364053486969	0.73961	6.056859	1.0	0.98316	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.62	4.62	0.56946	7.784000	0.84325	11.633000	0.93719	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.0:0.0:1.0:0.0	17.067	0.86438	.	.	Beta-ketoacyl synthase, N-terminal|Polyketide synthase, beta-ketoacyl synthase domain;Beta-ketoacyl synthase, N-terminal|Polyketide synthase, beta-ketoacyl synthase domain;Beta-ketoacyl synthase, N-terminal|Polyketide synthase, beta-ketoacyl synthase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	51.44	39	chr17	82093639	.	G	A	51.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.703;DP=252;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.43;ReadPosRankSum=-0.992;SOR=1.034	GT:AD:DP:GQ:PL	0/1:5,3:8:62:62,0,103	6	0	1	0
chr17	82441180	82441180	C	T	exonic	HEXD	.	nonsynonymous SNV	HEXD:NM_173620:exon10:c.C1166T:p.P389L	.	378	1138	6	0	0	6	0.00262927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	.	0.0039	0.00638978	0.0017	0.0162	0.0004	0	0	0.0004	0	0.0010	0.0016559	256	154602	rs200753176	0.0007	0.0007	0.0007	0.0006	0.0159	0.0006	0.0006	0.0148	0.0143	0.0159	0.0008	7.652e-05	0	3.809e-05	0.0088	0.0002	0.0012	0.0011	0.0047	0.0047	0.0048	0.0046	0.0161	0.0044	0.0043	0.0151	0.0147	0.0161	0	0.0010	0	0	0	0.0170	0.0002	0.0052	0.0006	0.006	0.61437	D	0.657	0.06576	T	.	.	.	.	.	.	0.329620	0.04123	N	1.476060	1	0.81001	D	.	.	.	0.96	0.42888	T	-0.1	0.08495	N	0.111	0.09772	-1.0294	0.20649	T	0.032	0.13679	T	9	0.0038475096	0.00073	T	.	.	.	0.063	0.18251	.	.	0.16115917748	0.15686	0.1315157477425212	0.13076	0.188165949056	0.21140	0.27176964283	0.06373	T	.	.	.	-0.450501	0.01122	T	-0.406264	0.32657	T	0.00674936642305063	0.00076	T	0.316168	0.06277	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08705	B	.	.	0.470826	0.08402	5.159	0.8615332035352582	0.16348	0.54678	0.29675	D	AEFDGBCIJ	0.030048	0.02951	N	-0.909061226785039	0.10628	0.5088518	-0.844658621763409	0.13416	0.6958371	0.999999582540462	0.74766	0.839682	0.99964	0	0.774882	0.99574	0	0.736553	0.94036	0	0.645665	0.59343	0	.	.	5.1	0.651	0.16989	-0.219000	0.09233	0.054000	0.14040	-1.731000	0.00715	0.928000	0.32210	0.897000	0.27914	0.054000	0.15518	0.1181:0.544:0.1156:0.2224	3.498	0.07222	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008056	0.010101	0.005435	0.011696	0.050000	0.034483	0.003049	0.003788	0.07143	64.44	33	chr17	82441180	.	C	T	64.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.242;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.05;ReadPosRankSum=0.291;SOR=0.223	GT:AD:DP:GQ:PL	0/1:4,4:8:75:75,0,111	6	0	1	0
chr18	14513679	14513679	T	G	exonic	POTEC	.	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.A1516C:p.K506Q	.	1001	337	183	1	0	185	0.215367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.000961216431828	.	.	.	.	.	.	.	.	.	.	8.41e-05	13	154602	rs28606506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.267	0.22561	T	0.455	0.36245	P	0.137	0.33328	B	.	.	.	.	1	0.08975	N	2.35	0.67516	M	1.38	0.34050	T	0.11	0.05706	N	0.36	0.40164	-1.0459	0.15563	T	0.060	0.25273	T	9	0.10279083	0.18859	T	9.61E-4	0.00980	T	0.021	0.04004	0.44	0.49484	0.191931220699	0.18833	0.008575884169956268	0.00821	.	.	0.661467790604	0.61620	T	0.009409	0.08568	T	-0.232587	0.16309	T	-0.571872	0.15279	T	0.115140116944907	0.13948	T	0.559044	0.19511	T	0.0817621	0.18801	0.04864013	0.07268	0.0817621	0.18801	0.04864013	0.07268	-3.826	0.21193	T	.	.	0.126	0.26545	B	.	.	1.424813	0.18423	13.73	0.59010782571540543	0.06124	0.01638	0.05273	N	AEFI	0.034532	0.04293	N	-0.924811265974744	0.10264	0.4896489	-1.10812489953313	0.07544	0.3673648	1.29605380073252E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-0.976	0.09761	1.060000	0.30139	.	.	0.332000	0.19570	0.003000	0.16062	0.000000	0.08366	0.028000	0.12845	0.0:0.4792:0.0:0.5208	4.177	0.09818	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	1890.48	127	chr18	14513679	.	T	G	1890.48	.	AC=6;AF=0.429;AN=14;BaseQRankSum=2.8;DP=845;ExcessHet=8.2628;FS=14.603;MLEAC=6;MLEAF=0.429;MQ=51.15;MQRankSum=-7.498;QD=2.38;ReadPosRankSum=-2.668;SOR=1.982	GT:AD:DP:GQ:PL	0/1:13,2:15:40:40,0,328	1	0	6	0
chr18	14533138	14533138	C	G	exonic	POTEC	.	nonsynonymous SNV	POTEC:NM_001137671:exon5:c.G978C:p.E326D	.	560	961	1	0	0	1	0.000520021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00503084544389	.	0.000199681	0.0005	0.0001	0.0004	0	0.0005	0.0009	0	0	6.5e-06	1	154602	rs541271454	0.0006	0.0006	0.0006	0.0006	0.0007	0.0005	0.0005	0.0006	0.0006	5.992e-05	0.0004	0.0006	0	0.0004	0.0002	0.0007	0.0005	0	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	7.221e-05	0	0.0005	0.0006	0	9.432e-05	0	0.0004	0.0009	0	0.142	0.25457	T	0.138	0.33780	T	0.685	0.41537	P	0.396	0.44364	B	.	.	.	.	1	0.08975	N	0.77	0.19370	N	-0.25	0.67011	T	-1.43	0.35194	N	0.178	0.19190	-0.9829	0.34328	T	0.141	0.46165	T	9	0.03785792	0.02166	T	0.005031	0.12722	T	0.045	0.12272	0.373	0.38503	0.623114596716	0.62004	0.11026446638219198	0.10955	.	.	0.803986310959	0.82571	D	0.006769	0.06199	T	-0.499271	0.00577	T	-0.583859	0.14202	T	0.0307874940935934	0.02111	T	0.40156	0.10241	T	0.051650546	0.09516	0.04720538	0.06748	0.051650546	0.09516	0.04720538	0.06747	-7.639	0.58582	D	.	.	0.221	0.45236	B	.;.	.;.	0.728087	0.10974	7.636	0.98504002363058218	0.42252	0.00756	0.03136	N	AEFI	0.034118	0.04171	N	-0.905701572053082	0.10708	0.5130147	-1.08867980991292	0.07923	0.3873386	1.09828599737309E-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	0.159	0.14256	-1.069000	0.03555	.	.	-0.584000	0.04686	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7054:0.0:0.2946	3.369	0.06794	940	0.13648	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	61.44	40	chr18	14533138	.	C	G	61.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.559;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=38.62;MQRankSum=-0.508;QD=6.83;ReadPosRankSum=-0.475;SOR=0.446	GT:AD:DP:GQ:PL	0/1:5,4:9:72:72,0,122	6	0	1	0
chr18	31399464	31399464	G	A	exonic	DSG4	.	nonsynonymous SNV	DSG4:NM_001134453:exon9:c.G1198A:p.G400R,DSG4:NM_177986:exon9:c.G1198A:p.G400R	Hypotrichosis 6, Autosomal recessive	0	1484	38	0	0	38	0.0126414	.	.	.	576181	DSG4-related_disorder|not_provided|Hypotrichosis_6	.|MedGen:C3661900|MONDO:MONDO:0011932,MedGen:C1842839,OMIM:607903,Orphanet:55654	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.179	.	0.0050	0.00439297	0.0043	0.0046	0.0027	0	0	0.0052	0.0044	0.0058	0.0040685	629	154602	rs35378785	0.0033	0.0033	0.0031	0.0034	0.0203	0.0032	0.0032	0.0173	0.0162	0.0051	0.0033	0.0435	0	0.0003	0.0203	0.0021	0.0067	0.0055	0.0039	0.0039	0.0039	0.0039	0.0068	0.0036	0.0035	0.0050	0.0044	0.0031	0	0.0042	0.0541	0	0.0004	0.0408	0.0022	0.0057	0.0068	0.74	0.03696	T	0.19	0.28860	T	0.531	0.90584	P	0.247	0.80445	B	0.077327	0.21110	N	0.246143	0.939708	0.37270	D	0.495	0.13372	N	0.35	0.59037	T	-0.51	0.15986	N	0.689	0.69474	-0.8261	0.53550	T	0.188	0.53827	T	10	0.0041315258	0.00081	T	.	.	.	0.179	0.44899	0.414	0.45216	0.800236202846	0.79837	0.3010113199831233	0.30014	0.252222878455	0.27793	0.465308904648	0.34037	T	0.102842	0.41094	T	-0.180223	0.23702	T	-0.0276499	0.68524	D	0.0494035485741406	0.05395	T	0.692831	0.31596	T	0.10689115	0.25275	0.13068023	0.31396	0.097276576	0.22927	0.090244345	0.21151	-7.606	0.58353	D	.	.	0.346	0.56311	A	.;.	.;.	2.539861	0.32855	19.17	0.9951036776297365	0.68618	0.73441	0.35924	D	AEFDGBCI	0.203974	0.33044	N	0.267983728041288	0.54534	3.618692	0.339373258754207	0.57870	3.954535	0.999999994021206	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.33	5.33	0.75683	3.309000	0.51613	2.699000	0.34147	0.676000	0.76740	0.291000	0.25242	1.000000	0.68203	0.979000	0.57723	0.0758:0.0:0.9242:0.0	12.717	0.56492	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.027694	0.035354	0.038043	0.046784	0.000000	0.008621	0.009146	0.011364	0.2143	4275.72	33	chr18	31399464	.	G	A	4275.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.56;DP=478;ExcessHet=1.1394;FS=1.791;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0.082;SOR=0.802	GT:AD:DP:GQ:PL	0/1:6,2:8:25:25,0,124	4	0	3	0
chr18	41993282	41993282	T	C	exonic	PIK3C3	.	nonsynonymous SNV	PIK3C3:NM_001308020:exon6:c.T538C:p.S180P,PIK3C3:NM_002647:exon7:c.T727C:p.S243P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.0246061960468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.873e-07	2.052e-06	0	1.381e-06	9.036e-07	0	0	.	.	0	0	0	0	0	0	9.036e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.14111	T	0.511	0.10785	T	0.0	0.07471	B	0.001	0.12133	B	0.001657	0.38382	N	0.265792	0.973432	0.40065	D	0.165	0.08973	N	-0.09	0.64086	T	-0.96	0.31375	N	0.574	0.61680	-0.9725	0.36670	T	0.136	0.45126	T	9	0.21460304	0.37988	T	0.024606	0.47597	T	0.232	0.53354	0.295	0.25881	0.571483254199	0.56815	0.3370488226963614	0.33617	0.251642933552	0.27744	0.639114618301	0.58438	T	0.211861	0.57274	T	0.0948883	0.63736	D	-0.101476	0.63283	T	0.539169669151306	0.34073	D	0.927207	0.73169	D	0.4938826	0.66733	0.31778914	0.57751	0.4938826	0.66734	0.31778914	0.57751	-5.96	0.45943	T	.	.	0.082	0.10256	B	.;.;.	.;.;.	3.291992	0.45147	22.1	0.98690183053427893	0.44752	0.91271	0.53198	D	AEFDGBIJ	0.520752	0.54548	D	-0.174104883671334	0.34216	1.950297	0.0567873101636437	0.42402	2.563972	0.99999347787898	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.67	5.67	0.87673	2.458000	0.44671	6.153000	0.54225	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	0.0:0.0:0.0:1.0	16.215	0.82026	910	0.22284	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr18	41993282	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr18	58918859	58918859	C	T	exonic	ZNF532	.	nonsynonymous SNV	ZNF532:NM_001318726:exon3:c.C572T:p.T191M,ZNF532:NM_001318727:exon3:c.C572T:p.T191M,ZNF532:NM_001353525:exon3:c.C572T:p.T191M,ZNF532:NM_001353528:exon3:c.C572T:p.T191M,ZNF532:NM_001353529:exon3:c.C572T:p.T191M,ZNF532:NM_001353532:exon3:c.C572T:p.T191M,ZNF532:NM_001353533:exon3:c.C572T:p.T191M,ZNF532:NM_001353534:exon3:c.C572T:p.T191M,ZNF532:NM_001353535:exon3:c.C572T:p.T191M,ZNF532:NM_001353536:exon3:c.C572T:p.T191M,ZNF532:NM_001353537:exon3:c.C572T:p.T191M,ZNF532:NM_001353538:exon3:c.C572T:p.T191M,ZNF532:NM_001375912:exon3:c.C572T:p.T191M,ZNF532:NM_001375913:exon3:c.C572T:p.T191M,ZNF532:NM_001318728:exon4:c.C572T:p.T191M,ZNF532:NM_001353526:exon4:c.C572T:p.T191M,ZNF532:NM_001353527:exon4:c.C572T:p.T191M,ZNF532:NM_001353530:exon4:c.C572T:p.T191M,ZNF532:NM_001353531:exon4:c.C572T:p.T191M,ZNF532:NM_018181:exon4:c.C572T:p.T191M	.	430	1049	40	3	0	46	0.0214552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	.	0.0022	0.00519169	0.0051	0.0006	0.0013	0	0.0060	0.0032	0.0022	0.0209	0.0045795	708	154602	rs138581536	0.0038	0.0038	0.0031	0.0044	0.0205	0.0037	0.0036	0.0197	0.0194	0.0006	0.0013	0.0039	2.519e-05	0.0059	0.0125	0.0027	0.0035	0.0205	0.0031	0.0031	0.0027	0.0036	0.0200	0.0029	0.0028	0.0167	0.0155	0.0009	0	0.0024	0.0032	0	0.0067	0.0136	0.0032	0.0019	0.0200	0.132	0.26519	T	0.111	0.37173	T	0.406	0.34969	B	0.053	0.25678	B	0.967652	0.07758	N	1.013930	1	0.08975	N	1.1	0.28011	L	4.78	0.01551	T	-0.27	0.11366	N	0.109	0.15749	-0.9358	0.43272	T	0.006	0.02131	T	10	0.0024507642	0.00037	T	.	.	.	0.146	0.38789	.	.	0.043077524339	0.03247	0.015359013760375682	0.01491	0.60470736792	0.55397	0.25651088357	0.04483	T	0.00857	0.07859	T	-0.666255	0.00058	T	-0.714211	0.05080	T	0.00518461185078832	0.00056	T	0.90461	0.66442	D	0.063076414	0.13243	0.031573232	0.01765	0.063076414	0.13243	0.031573232	0.01765	-5.006	0.36905	T	.	.	0.072	0.04975	B	.;.;.;.;.	.;.;.;.;.	1.650501	0.21054	15.03	0.43793698931986141	0.03322	0.14789	0.18586	N	AEFGBI	0.131005	0.24979	N	-0.474476265306051	0.22920	1.227163	-0.499071598623072	0.22179	1.203422	0.999997780700719	0.74766	0.722319	0.85440	0	0.610034	0.51514	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.12	5.12	0.69459	0.563000	0.23250	0.823000	0.21872	-0.178000	0.10482	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6701:0.1706:0.1593	5.740	0.17357	938	0.14419	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.005435	0.011696	0.000000	0.000000	0.012195	0.007576	0.07143	111.44	34	chr18	58918859	.	C	T	111.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.674;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.57;ReadPosRankSum=0.674;SOR=0.368	GT:AD:DP:GQ:PL	0/1:1,5:6:17:122,0,17	6	0	1	0
chr18	75285859	75285859	A	G	exonic	TSHZ1	.	nonsynonymous SNV	TSHZ1:NM_001308210:exon2:c.A452G:p.K151R,TSHZ1:NM_005786:exon2:c.A317G:p.K106R	Aural atresia, congenital, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.0101009392439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.602e-06	9.577e-06	1.228e-05	6.897e-06	1.261e-05	5.57e-06	4.36e-06	7.31e-06	5.72e-06	0	0	0	0	0	0	1.261e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.91255	T	0.162	0.31225	T	0.016	0.17332	B	0.016	0.17743	B	0.022328	0.26655	N	0.294663	0.957984	0.26241	N	1.1	0.28011	L	2.69	0.23082	T	-0.12	0.31170	N	0.095	0.17966	-1.0135	0.25816	T	0.020	0.08266	T	10	0.12936667	0.24614	T	0.010101	0.26235	T	0.037	0.09474	0.164	0.06842	0.624834224408	0.62178	0.2305475118178198	0.22969	0.308946367022	0.33212	0.344445198774	0.17100	T	0.079568	0.36158	T	-0.181859	0.23458	T	-0.499004	0.22450	T	0.361432254314423	0.27465	T	0.671533	0.28021	T	0.07538909	0.16982	0.1452968	0.34464	0.07538909	0.16982	0.1452968	0.34463	-4.583	0.31957	T	.	.	0.082	0.12750	B	.;.;.	.;.;.	3.165596	0.42909	21.6	0.81069619512628421	0.13505	0.97015	0.72198	D	AEFDBI	0.488208	0.52663	N	-0.28932376319022	0.29559	1.640319	-0.101794181779673	0.35319	2.041892	0.941942436515841	0.27500	0.562547	0.31514	0	0.546412	0.12157	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.16	5.16	0.70563	3.942000	0.56324	5.232000	0.48034	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.182000	0.21359	1.0:0.0:0.0:0.0	13.585	0.61389	1000	0.00083	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	100.44	86	chr18	75285859	.	A	G	100.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.842;DP=439;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.74;ReadPosRankSum=-0.842;SOR=1.609	GT:AD:DP:GQ:PL	0/1:2,4:6:31:111,0,31	6	0	1	0
chr19	4284883	4284883	C	-	exonic	SHD	.	frameshift deletion	SHD:NM_020209:exon4:c.695delC:p.L233Cfs*13,SHD:NM_001372011:exon5:c.695delC:p.L233Cfs*13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1418131173	1.375e-06	1.368e-06	1.367e-06	1.384e-06	0.0003	2.3e-07	9e-08	6.109e-05	2.528e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	51.4	31	chr19	4284882	.	GC	G	51.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.967;DP=195;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.13;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:27:62,0,27	6	0	1	0
chr19	4511957	4511957	-	ACA	exonic	PLIN4	.	nonframeshift insertion	PLIN4:NM_001367868:exon5:c.2002_2003insTGT:p.G668delinsVC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs765959685	0	0.0004	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0073	0.0004	0.0004	0.0008	0.0003	0.0003	0.0003	0.0002	0.0005	0.0011	0.0003	0.0009	0.0008	0.0004	0.0036	0.0002	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	40.4	219	chr19	4511957	.	C	CACA	40.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.95;DP=1959;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.93;MQRankSum=-2.771;QD=1.44;ReadPosRankSum=-2.056;SOR=1.078	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,3:28:51:0|1:4511908_T_C:51,0,1041:4511908	6	0	1	0
chr19	7378432	7378432	C	A	exonic	ARHGEF18	.	nonsynonymous SNV	ARHGEF18:NM_001367823:exon6:c.C580A:p.H194N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079764097276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.47097	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.547	0.57348	.	.	.	.	.	.	.	0.6070587	0.67234	D	0.079764	0.73308	D	.	.	.	.	0.302459207581	0.29844	.	.	.	.	.	.	.	.	.	.	-0.183058	0.23281	T	-0.500727	0.22273	T	.	.	.	0.638636	0.25202	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.48458	B	.	.	2.764954	0.36273	20.2	0.9877177266228061	0.45986	0.94013	0.59851	D	AEFDBI	0.563733	0.57080	D	.	.	.	.	.	.	0.89425890748775	0.25925	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.97	3.97	0.45241	3.763000	0.54969	5.609000	0.49049	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.215000	0.22324	0.0:1.0:0.0:0.0	11.892	0.51917	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1429	33.22	35	chr19	7378432	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=254;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr19	7553892	7553892	C	T	exonic	PNPLA6	.	nonsynonymous SNV	PNPLA6:NM_001166114:exon19:c.C2278T:p.P760S,PNPLA6:NM_001166111:exon21:c.C2308T:p.P770S,PNPLA6:NM_001166112:exon21:c.C2083T:p.P695S,PNPLA6:NM_001166113:exon22:c.C2164T:p.P722S,PNPLA6:NM_006702:exon22:c.C2164T:p.P722S	Boucher-Neuhauser syndrome, Autosomal recessive;Oliver-McFarlane syndrome, Autosomal recessive;Spastic paraplegia 39, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.0215152546973	.	.	8.252e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs748337187	6.841e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.24183	T	0.262	0.26883	T	0.13	0.27095	B	0.064	0.27215	B	0.000899	0.41231	D	0.207483	0.998034	0.44438	D	.	.	.	3.63	0.04353	T	-1.43	0.35597	N	0.347	0.41063	-0.9284	0.44371	T	0.013	0.05129	T	10	0.13707832	0.26077	T	0.021515	0.44299	T	0.070	0.20419	.	.	0.327419511103	0.32360	0.7900986978302605	0.78961	0.943014675479	0.72284	0.45740288496	0.32954	T	.	.	.	-0.29983	0.08675	T	-0.571607	0.15302	T	0.525858283042908	0.33581	D	0.938506	0.76978	D	0.056595422	0.11155	0.062766425	0.12329	0.056595422	0.11154	0.062766425	0.12329	-2.319	0.04661	T	0.0840437797887116	0.04599	0.059	0.01810	B	.;.;.;.;.	.;.;.;.;.	2.597799	0.33711	19.42	0.98887702084333085	0.47948	0.75662	0.37057	D	AEFDBI	0.226684	0.35059	N	-0.344365580520632	0.27479	1.507991	-0.232607413915713	0.30375	1.709715	0.0320977293975199	0.14037	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	1.866000	0.39127	5.803000	0.49951	0.597000	0.34315	0.737000	0.28995	0.997000	0.33255	0.015000	0.10482	0.0:1.0:0.0:0.0	13.903	0.63321	872	0.31118	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	38	chr19	7553892	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr19	7870729	7870729	G	T	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon5:c.C2515A:p.P839T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.0272144880457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.448e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.37730	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.208	0.23125	-0.9519	0.40643	T	0.158	0.49076	T	6	0.11397132	0.21427	T	0.027214	0.50054	D	.	.	.	.	0.0401082797425	0.02173	0.2868912861934115	0.28602	.	.	0.567236363888	0.48287	T	0.029732	0.21238	T	-0.162018	0.26451	T	-0.470504	0.25462	T	0.107078348712584	0.13118	T	0.332167	0.06971	T	0.09879848	0.23308	0.08148074	0.18521	0.09879848	0.23308	0.08148074	0.18521	-7.585	0.58206	D	.	.	0.123	0.25721	B	.	.	0.703138	0.10717	7.411	0.86514836626932934	0.16588	0.05035	0.10820	N	ALL	0.042984	0.06739	N	-0.554950250798381	0.20328	1.070839	-0.729838189993778	0.16219	0.856973	0.999981700707062	0.51787	0.741868	0.97996	0	0.48864	0.07623	0	0.774882	0.98623	0	0.562822	0.20929	0	.	.	3.3	0.957	0.18736	0.282000	0.18587	-4.032000	0.02382	-0.243000	0.07376	0.001000	0.13787	0.000000	0.08366	0.205000	0.22041	0.2352:0.0:0.7648:0.0	7.513	0.26754	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	.	.	.	.	.	.	.	.	0.1429	33.22	31	chr19	7870729	.	G	T	33.22	.	AC=2;AF=0.143;AN=14;DP=253;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr19	7910783	7910872	CTGGGCAAGATGACAGTGGCGGTGAGTGACCAGGCGGGGCTTGCACTGGGCAGGATGACAGAGGCGGTGAGTGACCAGGCGGGGCGTGCA	-	exonic	MAP2K7	.	nonframeshift deletion	MAP2K7:NM_001297556:exon6:c.655_675del:p.L219_A225del,MAP2K7:NM_145185:exon6:c.655_675del:p.L219_A225del,MAP2K7:NM_001297555:exon7:c.703_723del:p.L235_A241del	.	426	1075	20	1	0	22	0.0101289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0001	0.0001	0	0	0.0004	0.0029	0.0058	0.0001921	5	26028	.	0.0067	0.0067	0.0064	0.0070	0.0173	0.0066	0.0065	0.0166	0.0163	0.0012	0.0059	0.0026	0	0.0007	0.0121	0.0066	0.0075	0.0173	0.0046	0.0046	0.0048	0.0045	0.0148	0.0043	0.0042	0.0121	0.0110	0.0012	0	0.0079	0.0032	0.0002	0.0006	0.0068	0.0063	0.0052	0.0148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	194.4	34	chr19	7910782	.	TCTGGGCAAGATGACAGTGGCGGTGAGTGACCAGGCGGGGCTTGCACTGGGCAGGATGACAGAGGCGGTGAGTGACCAGGCGGGGCGTGCA	T	194.4	.	AC=1;AF=0.071;AN=14;DP=235;ExcessHet=0;FS=3.68;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=24.3;SOR=1.061	GT:AD:DP:GQ:PL	0/1:2,6:8:68:205,0,68	6	0	1	0
chr19	8882357	8882357	T	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon67:c.A41726C:p.H13909P	.	405	1047	70	0	0	70	0.0323475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00792783571824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796735167	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.375e-05	0.0031	2.685e-05	0	5.047e-05	2.28e-06	8.6e-07	8.36e-06	3.13e-06	5.047e-05	0	0	0	0	0	0	0	0	0	0.013	0.53900	D	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.42	0.33189	T	-2.13	0.48354	N	0.169	0.17966	-0.9248	0.44886	T	0.118	0.41538	T	8	0.10297388	0.18905	T	0.007928	0.21033	T	0.032	0.07718	.	.	0.12205267543	0.11705	0.27533970181248574	0.27446	.	.	0.296447068453	0.09873	T	.	.	.	-0.231789	0.16411	T	-0.570725	0.15383	T	0.117542110383511	0.14187	T	0.136186	0.01076	T	.	.	.	.	.	.	.	.	-5.776	0.44365	T	.	.	0.094	0.14523	B	.	.	1.063717	0.14459	11.03	0.92759947552597488	0.22269	0.03584	0.08802	N	AEFBI	0.044049	0.07038	N	-0.65132752016793	0.17421	0.8963414	-0.848972519843682	0.13313	0.6899027	8.8082630228839E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.64	0.168	0.14298	-0.323000	0.08039	.	.	0.481000	0.22134	0.000000	0.06391	0.000000	0.08366	0.263000	0.23594	0.0:0.1579:0.2494:0.5927	3.103	0.05949	958	0.09170	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	.	.	.	.	.	.	.	.	0.1	144.11	42	chr19	8882357	.	T	G	144.11	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.566;DP=490;ExcessHet=0;FS=2.808;MLEAC=1;MLEAF=0.1;MQ=52.87;MQRankSum=-2.655;QD=16.01;ReadPosRankSum=1.2;SOR=0.148	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,4:9:99:0|1:8882357_T_G:153,0,198:8882357	4	0	1	2
chr19	8882360	8882360	G	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon67:c.C41723A:p.T13908N	.	407	1050	65	0	0	65	0.0300231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00551552653495	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175263485	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.846e-06	0.0029	1.337e-05	0	2.514e-05	0	0	.	.	2.514e-05	0	0	0	0	0	0	0	0	0	0.167	0.23095	T	0.11	0.37310	T	.	.	.	.	.	.	.	.	.	.	0.99995	0.19072	N	.	.	.	1.43	0.32958	T	-1.48	0.36189	N	0.215	0.24010	-0.9114	0.46682	T	0.117	0.41165	T	8	0.12792793	0.24332	T	0.005516	0.14197	T	0.036	0.09122	.	.	0.17948927462	0.17512	0.1012481156749268	0.10055	.	.	0.334889471531	0.15672	T	.	.	.	-0.280333	0.10633	T	-0.640456	0.09636	T	0.303562044834163	0.25150	T	0.377862	0.09067	T	.	.	.	.	.	.	.	.	-8.949	0.67368	D	.	.	0.129	0.27553	B	.	.	1.151135	0.15394	11.82	0.98214552204547234	0.39246	0.04046	0.09490	N	AEFBI	0.032139	0.03572	N	-0.171701422619438	0.34317	1.957244	-0.381415807223033	0.25551	1.405855	1.60312416966797E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.64	1.57	0.22490	0.080000	0.14657	.	.	0.488000	0.22294	0.002000	0.15269	0.022000	0.20871	0.320000	0.24970	0.1933:0.0:0.8067:0.0	4.506	0.11297	958	0.09170	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	.	.	.	.	.	.	.	.	0.1	144.11	42	chr19	8882360	.	G	T	144.11	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.819;DP=493;ExcessHet=0;FS=2.808;MLEAC=1;MLEAF=0.1;MQ=52.87;MQRankSum=-2.655;QD=16.01;ReadPosRankSum=1.18;SOR=0.148	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,4:9:99:0|1:8882357_T_G:153,0,198:8882357	4	0	1	2
chr19	8888763	8888763	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.C40736T:p.T13579I	.	386	1130	5	1	0	7	0.00308778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.0225181638308	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796202949	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0097	0.0001	0.0003	0.0007	0.0001	0.0001	0.0002	9.48e-05	0.0003	0	0.0005	0	0.0007	0.0002	0	7.466e-05	0.0009	0	0.033	0.44358	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.22	0.37052	T	-1.81	0.42575	N	0.404	0.44474	-0.6010	0.64776	T	0.206	0.56485	T	8	0.24742359	0.42022	T	0.022518	0.45416	T	0.147	0.38986	.	.	0.152612264143	0.14878	0.39111607982275465	0.39026	.	.	0.523282647133	0.42088	T	.	.	.	-0.124778	0.32344	T	-0.417012	0.31417	T	0.544527530670166	0.34273	D	0.880912	0.59977	D	.	.	.	.	.	.	.	.	-7.332	0.56422	T	.	.	0.329	0.55117	B	.	.	1.296456	0.16976	12.88	0.99442054032056237	0.64820	0.46543	0.27783	N	AEFDBI	0.122787	0.23810	N	-0.257393938749385	0.30808	1.721402	-0.491271942611007	0.22393	1.216053	6.92005012073932E-5	0.04366	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.95	0.756	0.17569	2.264000	0.42959	.	.	-0.761000	0.03509	0.990000	0.36992	0.209000	0.23629	0.000000	0.00833	0.0:0.0:0.6164:0.3836	8.036	0.29653	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	52.44	363	chr19	8888763	.	G	A	52.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.489;DP=2844;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=54.85;MQRankSum=-2.379;QD=1.34;ReadPosRankSum=1.3;SOR=0.544	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,4:39:63:0|1:8888763_G_A:63,0,1458:8888763	6	0	1	0
chr19	8888772	8888772	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.A40727G:p.H13576R	.	387	1130	4	1	0	6	0.00264784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.01970920909	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796597641	6.847e-07	0.0003	1.363e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	0.0002	0.0067	7.429e-05	0.0002	0.0006	9.463e-05	7.746e-05	0.0001	8.311e-05	9.954e-05	0.0016	0.0004	0	0.0006	0.0001	0	8.473e-05	0.0007	0	0.399	0.10517	T	0.016	0.60972	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.54	0.30133	T	-1.07	0.27876	N	0.198	0.21839	-0.6717	0.61752	T	0.209	0.56826	T	8	0.08854148	0.15256	T	0.019709	0.42141	T	0.070	0.20419	.	.	0.0846915920261	0.08053	0.10730361134637394	0.10659	.	.	0.301812142134	0.10671	T	.	.	.	-0.298934	0.08761	T	-0.667174	0.07791	T	0.0429873021479382	0.04234	T	0.289971	0.05268	T	.	.	.	.	.	.	.	.	-7.328	0.56394	T	.	.	0.079	0.07365	B	.	.	0.305711	0.06811	3.335	0.90875541208019783	0.20124	0.01928	0.05881	N	AEFDBI	0.046718	0.07789	N	-0.451024332831344	0.23705	1.274877	-0.644784429574841	0.18348	0.9797751	1.15187711553299E-4	0.05269	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.95	1.93	0.24985	-1.911000	0.01675	.	.	0.639000	0.52094	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.149:0.0:0.851	4.795	0.12637	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	.	.	.	.	.	.	.	.	0.07143	55.44	363	chr19	8888772	.	T	C	55.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.304;DP=2856;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=54.84;MQRankSum=-2.421;QD=1.46;ReadPosRankSum=0.833;SOR=0.588	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,4:38:66:0|1:8888763_G_A:66,0,1416:8888763	6	0	1	0
chr19	8910503	8910508	CCATAA	-	exonic	MUC16	.	nonframeshift deletion	MUC16:NM_024690:exon19:c.37139_37144del:p.I12380_A12382delinsT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	.	0	9.577e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.015e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	31.11	152	chr19	8910502	.	GCCATAA	G	31.11	.	AC=1;AF=0.125;AN=8;BaseQRankSum=0.674;DP=1076;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.125;MQ=57.55;MQRankSum=-0.674;QD=15.55;ReadPosRankSum=-0.674;SOR=0.693	GT:AD:DP:GQ:PL	0/1:1,1:2:39:39,0,39	3	0	1	3
chr19	8946802	8946802	T	-	exonic	MUC16	.	frameshift deletion	MUC16:NM_024690:exon3:c.29968delA:p.R9990Dfs*7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	54.4	73	chr19	8946801	.	CT	C	54.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=607;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-0.674;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,2:5:65:65,0,106	6	0	1	0
chr19	10162750	10162750	T	C	splicing	DNMT1	NM_001379:exon12:c.879-2A>G;NM_001318731:exon13:c.564-2A>G;NM_001130823:exon13:c.927-2A>G;NM_001318730:exon12:c.879-2A>G	.	.	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, Autosomal dominant;Neuropathy, hereditary sensory, type IE, Autosomal dominant	.	.	.	.	.	.	.	1.0000	0.868	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.754593	0.93398	33	0.9792217547806894	0.36893	0.90457	0.51649	D	AEFBI	.	.	.	0.723905580131269	0.81201	7.466664	0.467599950858185	0.65855	4.876759	0.00711645922865912	0.11388	0.115753	0.02995	0	0.12628	0.03447	0	0.137589	0.03823	0	0.117559	0.03655	0	0.915251	0.58017	3.96	3.96	0.45097	2.959000	0.48846	6.842000	0.56718	0.648000	0.52827	0.991000	0.37257	1.000000	0.68203	0.594000	0.31239	0.0:0.0:0.0:1.0	9.516	0.38271	911	0.21964	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	61.44	44	chr19	10162750	.	T	C	61.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.38;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.36;ReadPosRankSum=1.38;SOR=2.303	GT:AD:DP:GQ:PL	0/1:2,2:4:37:72,0,37	6	0	1	0
chr19	10631490	10631490	C	T	exonic	SLC44A2	.	nonsynonymous SNV	SLC44A2:NM_001145056:exon7:c.C451T:p.L151F,SLC44A2:NM_001363611:exon7:c.C457T:p.L153F,SLC44A2:NM_020428:exon7:c.C457T:p.L153F	.	420	1086	14	2	0	18	0.00821918	.	.	.	2811565	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.134	.	0.0046	0.00119808	0.0043	0.0012	0.0027	0	0.0011	0.0066	0.0044	0.0018	0.004269	660	154602	rs147820753	0.0053	0.0053	0.0054	0.0052	0.0061	0.0052	0.0051	0.0060	0.0059	0.0012	0.0038	0.0060	2.519e-05	0.0015	0.0049	0.0061	0.0049	0.0017	0.0042	0.0042	0.0047	0.0037	0.0070	0.0039	0.0038	0.0065	0.0063	0.0011	0	0.0045	0.0063	0	0.0007	0.0034	0.0070	0.0043	0.0008	0.008	0.65419	D	0.072	0.51737	T	0.149	0.27956	B	0.26	0.39460	B	0.000731	0.42129	D	0.207551	0.999687	0.48270	D	3.355	0.91145	M	1.92	0.23082	T	-2.45	0.53577	N	0.284	0.32148	-1.0997	0.04128	T	0.043	0.18701	T	10	0.0039951503	0.00077	T	.	.	.	0.134	0.36365	.	.	0.467247493403	0.46351	0.8331735572011452	0.83276	0.460764587813	0.45631	0.57872068882	0.49906	T	0.110705	0.59963	T	-0.414945	0.01844	T	-0.362277	0.37787	T	0.0778227691841469	0.09706	T	0.710029	0.40874	T	0.17049186	0.37626	0.18059826	0.40869	0.17049186	0.37626	0.18059826	0.40868	-8.331	0.63304	D	.	.	0.459	0.65444	A	.;.;.;.;.	.;.;.;.;.	3.717994	0.53115	23.3	0.99811418551868991	0.89531	0.96237	0.68167	D	AEFDGBI	0.580958	0.58116	D	0.096398637139644	0.46294	2.872031	0.121495831935482	0.45650	2.824449	0.999994654175628	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.87	4.87	0.62877	3.429000	0.52567	3.287000	0.37275	0.598000	0.34611	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	0.0:0.9113:0.0:0.0887	11.149	0.47669	814	0.42100	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.025253	0.010870	0.000000	0.000000	0.008621	0.009146	0.000000	0.07143	95.44	46	chr19	10631490	.	C	T	95.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.15;DP=433;ExcessHet=0;FS=3.979;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.91;ReadPosRankSum=0.189;SOR=2.8	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,3:6:73:0|1:10631490_C_T:106,0,73:10631490	6	0	1	0
chr19	14828048	14828048	T	C	exonic	OR7A5	.	nonsynonymous SNV	OR7A5:NM_017506:exon2:c.A194G:p.N65S,OR7A5:NM_001370480:exon3:c.A194G:p.N65S,OR7A5:NM_001370482:exon3:c.A194G:p.N65S,OR7A5:NM_001370483:exon3:c.A194G:p.N65S,OR7A5:NM_001370481:exon4:c.A194G:p.N65S	.	431	1077	14	0	0	14	0.00645756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000733141331449	0.0015	0.000998403	0.0017	0.0005	0.0021	0	0	0.0022	0.0022	0.0017	0.0016041	248	154602	rs61731995	0.0015	0.0015	0.0014	0.0016	0.0075	0.0014	0.0014	0.0057	0.0051	0.0006	0.0021	0.0037	0	1.872e-05	0.0075	0.0015	0.0017	0.0017	0.0014	0.0014	0.0015	0.0012	0.0026	0.0012	0.0012	0.0019	0.0017	0.0004	0.0022	0.0026	0.0049	0	9.441e-05	0.0068	0.0018	0.0019	0.0012	0.007	0.59928	D	0.034	0.52727	D	0.916	0.50672	P	0.45	0.46092	P	0.004894	0.33292	U	0.000000	0.992036	0.23945	N	2.02	0.55341	M	2.65	0.12676	T	-4.45	0.77717	D	0.15	0.15328	-1.0534	0.13466	T	0.037	0.16160	T	10	0.0144023895	0.00303	T	7.33E-4	0.00491	T	0.046	0.12618	.	.	0.444305618086	0.44052	0.35010095407654707	0.34924	0.281692965744	0.30640	0.247111290693	0.03470	T	0.011591	0.10317	T	-0.586459	0.00176	T	-0.621351	0.11079	T	0.0597572850695916	0.07129	T	0.228877	0.03057	T	0.19568326	0.41367	0.17154738	0.39344	0.19568326	0.41366	0.17154738	0.39344	-7.992	0.61016	D	.	.	0.083	0.09143	B	.;.	.;.	2.252697	0.28777	17.91	0.99342962761448417	0.60251	0.18759	0.20391	N	AEFGBI	0.124316	0.24032	N	-0.148321768023192	0.35306	2.026265	-0.315740852893485	0.27590	1.532025	3.76610976278781E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.13	2.07	0.26004	-0.128000	0.10508	.	.	0.319000	0.19345	0.000000	0.06391	0.000000	0.08366	0.443000	0.27738	0.2045:0.0:0.0:0.7955	6.973	0.23838	976	0.04745	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.005435	0.002924	0.000000	0.000000	0.000000	0.000000	0.1429	1764.24	112	chr19	14828048	.	T	C	1764.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.11;DP=330;ExcessHet=0.3476;FS=6.711;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=0.642;SOR=1.035	GT:AD:DP:GQ:PL	0/1:5,8:13:99:231,0,135	5	0	2	0
chr19	15742072	15742072	T	C	exonic	OR10H3	.	nonsynonymous SNV	OR10H3:NM_013938:exon1:c.T680C:p.I227T	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.00147771066605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.029	0.54541	D	0.055	0.22733	B	0.069	0.27757	B	0.020123	0.27106	U	0.170431	1	0.08975	N	3.53	0.93071	H	8.39	0.00243	T	-4.4	0.77308	D	0.142	0.14196	-0.9961	0.31001	T	0.001	0.00318	T	10	0.3855527	0.54512	T	0.001478	0.02267	T	0.090	0.26093	0.793	0.91438	0.405839309607	0.40195	0.07647593884922571	0.07583	0.076699842996	0.08613	0.27299785614	0.06535	T	0.009672	0.08788	T	-0.131347	0.31277	T	-0.426447	0.30340	T	0.357836257687421	0.27324	T	0.837416	0.50983	T	0.49829435	0.66995	0.48447543	0.70158	0.49829435	0.66996	0.48447543	0.70158	-7.973	0.60886	D	.	.	0.264	0.49807	B	.;.	.;.	2.764955	0.36273	20.2	0.96602957867436645	0.30412	0.12476	0.17292	N	AEFGBI	0.069116	0.13666	N	-0.484936188236524	0.22575	1.20632	-0.583697828145078	0.19918	1.070817	0.193588535053993	0.18030	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.37	2.37	0.28337	3.017000	0.49302	.	.	-0.308000	0.06107	0.089000	0.22556	0.009000	0.19889	0.819000	0.38590	0.0:0.0:0.0:1.0	8.241	0.30818	970	0.06235	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	172.44	41	chr19	15742072	.	T	C	172.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.264;DP=612;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.61;MQRankSum=1.05;QD=9.08;ReadPosRankSum=1.15;SOR=0.892	GT:AD:DP:GQ:PL	0/1:10,9:19:99:183,0,222	6	0	1	0
chr19	15934313	15934313	-	GCCAGGA	exonic	CYP4F11	.	frameshift insertion	CYP4F11:NM_021187:exon1:c.95_96insTCCTGGC:p.R33Pfs*13,CYP4F11:NM_001128932:exon2:c.95_96insTCCTGGC:p.R33Pfs*13	.	404	1117	1	0	0	1	0.000447427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	0	2.751e-06	2.519e-05	2.3e-07	9e-08	.	.	0	0	0	2.519e-05	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	187.4	33	chr19	15934313	.	G	GGCCAGGA	187.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.712;DP=219;ExcessHet=0;FS=2.808;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.82;ReadPosRankSum=1.07;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,5:9:99:0|1:15934313_G_GGCCAGGA:198,0,153:15934313	6	0	1	0
chr19	21383191	21383191	G	A	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.G645A:p.M215I	.	525	981	16	0	0	16	0.00808898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs910428921	1.384e-06	0.0003	0	2.783e-06	2.276e-05	2.3e-07	9e-08	.	.	0	2.276e-05	0	0	0	0	9.092e-07	0	0	0	0.0038	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	128.23	84	chr19	21383191	.	G	A	128.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.14;DP=405;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=57.77;MQRankSum=-2.859;QD=9.16;ReadPosRankSum=0.254;SOR=0.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,4:14:99:0|1:21383168_A_G:138,0,408:21383168	5	0	1	1
chr19	21383196	21383196	T	C	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.T650C:p.L217S	.	531	981	10	0	0	10	0.00507099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380787073	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.719e-06	0.0012	1.31e-05	0	1.497e-05	0	0	.	.	0	0	0	0	0	0	0	1.497e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	86.23	80	chr19	21383196	.	T	C	86.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.96;DP=391;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=57.59;MQRankSum=-3.323;QD=6.63;ReadPosRankSum=0.085;SOR=0.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,3:13:96:0|1:21383168_A_G:96,0,411:21383168	5	0	1	1
chr19	21383203	21383203	-	ACTC	exonic	ZNF738	.	frameshift insertion	ZNF738:NM_001355237:exon5:c.657_658insACTC:p.G220Tfs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1434000702	0	5.341e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.578e-06	0.0004	1.286e-05	0	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	85.4	39	chr19	21383203	.	A	AACTC	85.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.56;DP=341;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=57.59;MQRankSum=-3.323;QD=6.57;ReadPosRankSum=-0.932;SOR=0.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,3:13:96:0|1:21383168_A_G:96,0,411:21383168	6	0	1	0
chr19	21383206	21383209	TCAA	-	exonic	ZNF738	.	frameshift deletion	ZNF738:NM_001355237:exon5:c.660_663del:p.Q221Ifs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310884774	0	4.382e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.714e-06	0.0004	1.31e-05	0	1.494e-05	0	0	.	.	0	0	0	0	0	0	0	1.494e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	83.18	39	chr19	21383205	.	GTCAA	G	83.18	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.65;DP=327;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=57.77;MQRankSum=-3.474;QD=5.94;ReadPosRankSum=-1.645;SOR=0.976	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,3:14:93:0|1:21383168_A_G:93,0,453:21383168	5	0	1	1
chr19	21971970	21971970	T	C	exonic	ZNF208	.	nonsynonymous SNV	ZNF208:NM_007153:exon4:c.A3064G:p.I1022V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00127579957677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	2.052e-06	0	1.376e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	0	6.575e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.172	0.22660	T	0.324	0.25061	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.365	0.12025	N	3.22	0.07024	T	-0.34	0.12661	N	0.136	0.13341	-0.9424	0.42234	T	0.013	0.04938	T	8	0.06240055	0.07973	T	0.001276	0.01733	T	0.013	0.01715	.	.	0.0551355673512	0.04727	0.0023966970669596997	0.00222	0.0294820826827	0.03029	0.593373060226	0.51970	T	0.001048	0.00572	T	-0.352975	0.04543	T	-0.744801	0.03692	T	0.048585378230822	0.05248	T	0.109789	0.00823	T	0.024239777	0.01236	0.032372028	0.01963	0.024239777	0.01236	0.032372028	0.01963	-8.733	0.65962	D	.	.	0.199	0.42273	B	.;.	.;.	0.366307	0.07386	4.012	0.91420010714935018	0.20688	0.03551	0.08752	N	AEBHCI	0.042744	0.06672	N	-1.16656969511267	0.05513	0.2515036	-1.31106582347987	0.04286	0.2018595	1.71477131093844E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.58	-1.77	0.07551	-0.337000	0.07898	.	.	-0.377000	0.05411	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.2185:0.3276:0.4539	4.276	0.10255	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	52.44	33	chr19	21971970	.	T	C	52.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.812;DP=399;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=58.72;MQRankSum=-2.2;QD=5.83;ReadPosRankSum=0;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,2:9:63:0|1:21971965_G_A:63,0,288:21971965	6	0	1	0
chr19	21971972	21971972	T	C	exonic	ZNF208	.	nonsynonymous SNV	ZNF208:NM_007153:exon4:c.A3062G:p.K1021R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00117496099464	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1285268443	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.838e-06	4.69e-05	0	1.401e-05	1.511e-05	0	0	.	.	0	0	0	0	0	0	0	1.511e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.9	0.01342	N	2.29	0.17113	T	0.79	0.01893	N	0.083	0.05929	-0.9533	0.40398	T	0.014	0.05561	T	8	0.037503242	0.02109	T	0.001175	0.01484	T	0.017	0.02790	.	.	0.104622674875	0.10061	0.0023595979001155474	0.00218	0.00879187926376	0.00795	0.427874863148	0.28918	T	4.32E-4	0.00146	T	-0.457775	0.01015	T	-0.895339	0.00536	T	0.0440131190690142	0.04423	T	0.0521948	0.00394	T	0.018259525	0.00347	0.028339215	0.01062	0.018259525	0.00347	0.028339215	0.01062	-4.567	0.31754	T	.	.	0.054	0.00658	B	.;.	.;.	-1.239373	0.00493	0.011	0.08569832262126427	0.00070	0.00406	0.02023	N	AEBHCI	0.019046	0.00627	N	-1.46673003195739	0.02089	0.09186849	-1.53832911001359	0.02057	0.09405837	1.52464582226582E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.58	-0.0893	0.13004	-1.504000	0.02379	.	.	-0.606000	0.04599	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3715:0.5069:0.0:0.1215	4.559	0.11548	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	49.44	33	chr19	21971972	.	T	C	49.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.812;DP=400;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=58.85;MQRankSum=-2.287;QD=4.94;ReadPosRankSum=0.282;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,2:10:60:0|1:21971965_G_A:60,0,330:21971965	6	0	1	0
chr19	21971999	21971999	C	G	exonic	ZNF208	.	nonsynonymous SNV	ZNF208:NM_007153:exon4:c.G3035C:p.W1012S	.	.	.	.	.	.	.	.	.	.	.	4106341	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.022	0.000866676226316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.08660	T	0.505	0.18071	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.13	0.04535	N	3.21	0.07125	T	-0.32	0.12283	N	0.323	0.36359	-0.9159	0.46103	T	0.010	0.03856	T	8	0.09103167	0.15910	T	8.67E-4	0.00777	T	0.022	0.04323	.	.	0.0920862733494	0.08535	0.009212835826987663	0.00884	0.00814575459955	0.00735	0.411447227001	0.26657	T	0.001544	0.00986	T	-0.334951	0.05746	T	-0.71891	0.04849	T	0.02861368435377	0.01779	T	0.00360873	0.00010	T	0.043089893	0.06653	0.051901434	0.08447	0.043089893	0.06652	0.051901434	0.08446	-10.014	0.73996	D	.	.	0.341	0.55998	A	.;.	.;.	-0.025143	0.04112	0.972	0.47439688430646498	0.03879	0.03043	0.07935	N	AEFBHCI	0.041736	0.06386	N	-1.18151287201977	0.05280	0.2403064	-1.31351629495855	0.04255	0.2002903	4.82218353850094E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.58	-3.66	0.04200	-5.618000	0.00131	.	.	-2.519000	0.00257	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3573:0.457:0.0:0.1857	4.433	0.10963	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	46.44	33	chr19	21971999	.	C	G	46.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.23;DP=401;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=58.95;MQRankSum=-2.362;QD=4.22;ReadPosRankSum=2.36;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,2:11:57:0|1:21971965_G_A:57,0,372:21971965	6	0	1	0
chr19	32802763	32802763	A	G	exonic	TDRD12	.	nonsynonymous SNV	TDRD12:NM_001366102:exon20:c.A2305G:p.M769V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.0249554203781	.	0.00119808	0.0005	0.0095	0	0	0	0	0	0	0.0001229	19	154602	rs141527141	0.0001	0.0001	0.0001	0.0001	0.0038	0.0001	0.0001	0.0033	0.0031	0.0038	0.0004	0	0	0	0.0002	2.224e-05	0.0004	2.524e-05	0.0013	0.0013	0.0013	0.0014	0.0046	0.0012	0.0011	0.0040	0.0038	0.0046	0	0.0006	0	0	0	0	1.47e-05	0.0005	0	0.118	0.28148	T	0.0	0.92824	D	0.951	0.53992	P	0.543	0.48966	P	0.000036	0.55875	D	0.000000	0.906009	0.36289	D	1.905	0.50856	L	1.91	0.23283	T	-1.09	0.28290	N	0.612	0.62866	-1.1178	0.02476	T	0.044	0.19111	T	9	0.008848339	0.00200	T	0.024955	0.47943	T	0.136	0.36778	.	.	0.0666544352282	0.05500	.	.	.	.	0.525491476059	0.42400	T	8.75E-4	0.00441	T	-0.290515	0.09585	T	-0.188439	0.55736	T	0.0485324836412298	0.05239	T	0.723828	0.34191	T	0.15726368	0.35444	0.2054906	0.44721	0.15726368	0.35444	0.2054906	0.44720	-11.307	0.81315	D	.	.	0.328	0.57034	B	.;.	.;.	3.590721	0.50670	23.0	0.96365678669620369	0.29567	0.89279	0.49648	D	AEFGBCI	0.642616	0.61953	D	0.381608052149067	0.60426	4.23134	0.442579772773979	0.64242	4.67491	0.987260602903731	0.31224	0.553676	0.25195	0	0.547309	0.14657	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.97	5.97	0.96935	4.098000	0.57478	9.338000	0.80191	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.866000	0.41154	0.8663:0.0:0.0:0.1337	11.518	0.49787	687	0.59234	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	46.44	33	chr19	32802763	.	A	G	46.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.383;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.16;ReadPosRankSum=0.241;SOR=0.593	GT:AD:DP:GQ:PL	0/1:6,3:9:57:57,0,183	6	0	1	0
chr19	35299590	35299590	C	T	exonic	MAG	.	nonsynonymous SNV	MAG:NM_001199216:exon5:c.C377T:p.A126V,MAG:NM_002361:exon5:c.C452T:p.A151V,MAG:NM_080600:exon5:c.C452T:p.A151V	Spastic paraplegia 75, autosomal recessive, Autosomal recessive	424	1080	18	0	0	18	0.00826446	.	.	.	411594	Hereditary_spastic_paraplegia_75|Hereditary_spastic_paraplegia|not_provided|MAG-related_disorder	MONDO:MONDO:0014729,MedGen:C4225250,OMIM:616680,Orphanet:459056|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.370	0.317900383162	0.0037	0.00239617	0.0044	0.0016	0.0022	0.0001	0.0011	0.0058	0.0061	0.0060	0.0042173	652	154602	rs144553163	0.0054	0.0055	0.0053	0.0055	0.0063	0.0053	0.0053	0.0062	0.0062	0.0011	0.0019	0.0003	0	0.0010	0.0049	0.0063	0.0042	0.0051	0.0040	0.0040	0.0043	0.0036	0.0070	0.0037	0.0036	0.0065	0.0063	0.0014	0	0.0022	0.0003	0	0.0008	0.0034	0.0070	0.0005	0.0048	0.071	0.39575	T	0.101	0.38596	T	0.98	0.59353	D	0.782	0.57384	P	0.000053	0.53742	D	0.163867	0.784419	0.36625	D	1.355	0.33814	L	3.78	0.76037	T	-1.62	0.38924	N	0.123	0.11483	-0.5098	0.68294	T	0.274	0.64598	T	10	0.009121209	0.00206	T	0.318	0.91385	D	0.370	0.68930	.	.	0.64536359344	0.64243	0.5643018623974551	0.56357	0.478096384883	0.46899	0.549512326717	0.45789	T	0.285052	0.65784	T	-0.329821	0.06126	T	-0.241976	0.50606	T	0.0173554213605452	0.00474	T	0.805919	0.45429	T	0.21897237	0.44417	0.21848269	0.46553	0.24647926	0.47617	0.209051	0.45232	-6.183	0.48991	T	0.1177093208259177	0.10783	0.160	0.45871	B	.;.;.;.;.	.;.;.;.;.	3.563521	0.50150	22.9	0.99918718692552411	0.98586	0.49487	0.28444	N	AEFDBCI	0.195368	0.32240	N	0.0741978033257675	0.45262	2.785641	0.0888800289740042	0.43988	2.689319	0.999999340276584	0.74766	0.581397	0.33459	0	0.78372	0.99691	0	0.61531	0.40942	0	0.613276	0.41899	0	.	.	4.57	4.57	0.55860	2.345000	0.43675	2.654000	0.33835	0.533000	0.24879	0.991000	0.37257	0.984000	0.30665	0.986000	0.61781	0.0:1.0:0.0:0.0	14.866	0.70049	923	0.18507	.;CD80-like, immunoglobulin C2-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005051	0.000000	0.004076	0.002924	0.000000	0.008621	0.000000	0.011450	0.1429	33.22	33	chr19	35299590	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=187;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr19	35511469	35511480	CCACTGCTGCCG	-	exonic	DMKN	.	nonframeshift deletion	DMKN:NM_001126057:exon5:c.849_860del:p.G288_G291del,DMKN:NM_001126058:exon5:c.849_860del:p.G288_G291del,DMKN:NM_001190348:exon5:c.849_860del:p.G288_G291del,DMKN:NM_001190349:exon5:c.849_860del:p.G288_G291del,DMKN:NM_033317:exon5:c.849_860del:p.G288_G291del	.	475	755	3	0	289	292	0.00198282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0090	0.0164	0.0081	0.0243	0.0143	0.0086	0.0094	0.0022	0.0001153	3	26028	rs771935851	0.0030	0.0042	0.0031	0.0030	0.0385	0.0029	0.0029	0.0359	0.0349	0.0285	0.0080	0.0046	0.0385	0.0043	0.0028	0.0016	0.0043	0.0014	0.0096	0.0097	0.0096	0.0096	0.0359	0.0090	0.0088	0.0335	0.0325	0.0359	0.0015	0.0073	0.0053	0.0293	0.0008	0.0103	0.0015	0.0101	0.0016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	67.59	39	chr19	35511468	.	ACCACTGCTGCCG	A	67.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.967;DP=325;ExcessHet=1.1394;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=0;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:2,2:4:57:.:.:78,0,57:.	6	0	1	0
chr19	37388420	37388420	C	-	exonic	ZNF527	.	frameshift deletion	ZNF527:NM_032453:exon5:c.371delC:p.S125Vfs*26	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	43.4	35	chr19	37388419	.	TC	T	43.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.366;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.2;ReadPosRankSum=1.07;SOR=0.446	GT:AD:DP:GQ:PL	0/1:5,2:7:54:54,0,166	6	0	1	0
chr19	37414166	37414166	A	C	exonic	ZNF569	.	nonsynonymous SNV	ZNF569:NM_001330482:exon5:c.T15G:p.H5Q,ZNF569:NM_152484:exon6:c.T492G:p.H164Q	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0059922374351	0.0002	.	0.0004	0.0002	8.658e-05	0	0	0.0006	0.0011	0.0001	0.0003169	49	154602	rs140277147	0.0004	0.0004	0.0003	0.0004	0.0010	0.0003	0.0003	0.0005	0.0003	5.98e-05	0.0002	0.0126	0	0	0.0010	9.175e-05	0.0009	0.0001	0.0005	0.0005	0.0005	0.0005	0.0003	0.0004	0.0004	0.0001	8.877e-05	2.412e-05	0	0.0003	0.0167	0	0	0	0.0002	0.0019	0	0.425	0.09687	T	0.625	0.23231	T	0.0	0.02946	B	0.0	0.01387	B	0.780607	0.06652	N	1.165230	1	0.08975	N	0.72	0.18721	N	3.3	0.08547	T	-0.02	0.07299	N	0.057	0.11626	-0.9390	0.42774	T	0.011	0.04321	T	10	0.0044806004	0.00092	T	0.005992	0.15638	T	0.027	0.05988	0.348	0.34436	0.162503812791	0.15892	0.0429860637406652	0.04243	0.124506047228	0.14020	0.261024653912	0.05014	T	0.031959	0.22276	T	-0.596238	0.00154	T	-0.839185	0.01111	T	0.00159425861766531	0.00016	T	0.0240976	0.00855	T	0.042610176	0.06493	0.03761357	0.03450	0.042610176	0.06493	0.03761357	0.03450	-4.272	0.27783	T	.	.	0.084	0.14108	B	.;.;.;.	.;.;.;.	0.511511	0.08805	5.581	0.77762799604063748	0.12012	0.00003	0.00079	N	AEFGBHCI	0.039516	0.05751	N	-1.07770562918285	0.07056	0.3266435	-1.09014932092358	0.07894	0.3858119	0.0578566082071594	0.15107	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	2.7	-0.838	0.10218	-0.249000	0.08861	.	.	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.880000	0.42090	0.4121:0.2077:0.3802:0.0	3.912	0.08710	633	0.64743	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	72.0	36	chr19	37414166	.	A	C	72.0	.	AC=2;AF=0.143;AN=14;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=24;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,3:3:9:90,9,0	6	1	0	0
chr19	37893757	37893757	A	C	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon4:c.T1946G:p.F649C,WDR87:NM_031951:exon4:c.T1829G:p.F610C	.	424	1096	1	1	0	3	0.00136674	.	.	.	2736706	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.264	.	0.0031	0.00359425	0.0012	0.0111	0.0025	0	0	0.0001	0	0.0001	0.000414	64	154602	rs143790940	0.0004	0.0004	0.0005	0.0004	0.0138	0.0004	0.0004	0.0127	0.0123	0.0138	0.0009	0.0006	0	0	0.0023	1.298e-05	0.0012	0.0001	0.0038	0.0038	0.0039	0.0036	0.0131	0.0035	0.0034	0.0122	0.0118	0.0131	0	0.0013	0.0003	0	0	0	2.94e-05	0.0033	0.0002	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000008	0.62929	D	0.000000	0.745179	0.33866	D	.	.	.	2.56	0.13673	T	-6.17	0.90254	D	0.606	0.62357	-0.8702	0.50514	T	0.072	0.29163	T	10	0.009462953	0.00213	T	.	.	.	0.264	0.57741	.	.	0.274366138417	0.27033	0.7060006704290418	0.70542	.	.	0.640422224998	0.58623	T	.	.	.	-0.332591	0.05917	T	-0.238197	0.50975	T	0.0833368597261012	0.10408	T	0.753825	0.37593	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.843	0.79416	P	.;.	.;.	4.527237	0.71041	25.6	0.97910061609269405	0.36808	0.88507	0.48466	D	AEFBCI	0.566001	0.57216	D	0.735137176075446	0.81936	7.640117	0.706861666280565	0.82901	7.883012	0.999998180794928	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.62	5.62	0.85714	5.325000	0.65649	.	.	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	12.202	0.53643	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	101.44	33	chr19	37893757	.	A	C	101.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.242;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=0.936;SOR=1.022	GT:AD:DP:GQ:PL	0/1:4,5:9:99:112,0,107	6	0	1	0
chr19	38494555	38494555	G	A	exonic	RYR1	.	nonsynonymous SNV	RYR1:NM_000540:exon39:c.G6478A:p.G2160S,RYR1:NM_001042723:exon39:c.G6478A:p.G2160S	Central core disease, Autosomal recessive, Autosomal dominant;King-Denborough syndrome, Autosomal dominant;Minicore myopathy with external ophthalmoplegia, Autosomal recessive;Neuromuscular disease, congenital, with uniform type 1 fiber, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	171236	Malignant_hyperthermia_and_exertional_rhabdomyolosis|not_provided|Malignant_hyperthermia,_susceptibility_to,_1|Congenital_multicore_myopathy_with_external_ophthalmoplegia|RYR1-related_disorder|Central_core_myopathy|Congenital_myopathy_with_fiber_type_disproportion|King_Denborough_syndrome	MedGen:CN221545|MedGen:C3661900|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600,Orphanet:423|Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:598,Orphanet:98905|MedGen:CN239331|MONDO:MONDO:0007294,MedGen:C5830701,OMIM:117000,Orphanet:597|MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020|MONDO:MONDO:0020485,MedGen:C1840365,OMIM:619542	reviewed_by_expert_panel	Uncertain_significance	.	.	.	.	.	.	.	.	0.635	0.0612966364918	0.0002	0.000199681	9.126e-05	0.0006	8.658e-05	0	0	0	0	0.0002	7.76e-05	12	154602	rs143398211	3.01e-05	3.01e-05	3.267e-05	2.75e-05	0.0006	2.282e-05	2.032e-05	0.0004	0.0003	0.0006	2.236e-05	0	5.038e-05	0	0	1.259e-05	3.312e-05	6.956e-05	0.0002	0.0002	0.0001	0.0002	0.0005	0.0001	9.233e-05	0.0003	0.0003	0.0005	0	0	0	0.0002	0	0	1.47e-05	0.0005	0	0.567	0.06381	T	.	.	.	0.448	0.37206	B	0.06	0.30579	B	0.000002	0.62929	U	0.000000	0.954616	0.37886	D	0.475	0.13142	N	-3.56	0.94869	D	-4.42	0.77470	D	0.532	0.56058	-0.0678	0.80828	T	0.564	0.84166	D	10	0.17900038	0.33012	T	0.061297	0.68284	D	0.635	0.86027	.	.	0.885086117135	0.88395	0.7774034703502605	0.77690	0.361046545308	0.37764	0.668029427528	0.62556	T	0.692358	0.91067	D	-0.00653183	0.50749	T	0.134809	0.79206	D	0.113301798701286	0.13763	T	0.915108	0.69728	D	0.17204787	0.37873	0.23414798	0.48624	0.1799848	0.39096	0.22851634	0.47895	-8.28	0.63203	D	0.13797441899275245	0.15228	0.180	0.39151	B	.;.	.;.	3.827164	0.55303	23.6	0.99512581962573143	0.68739	0.92972	0.57003	D	AEFDBI	0.662020	0.63204	D	-0.323177881297509	0.28270	1.557893	-0.226923715096967	0.30576	1.722738	0.994181383628553	0.33525	0.730579	0.87903	0	0.588066	0.40923	0	0.749866	0.98131	0	0.613276	0.41899	0	.	.	4.63	2.38	0.28415	4.698000	0.61475	4.970000	0.46394	-0.185000	0.09859	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0835:0.0:0.7694:0.1471	9.977	0.40962	746	0.52331	.;RIH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	171.19	33	chr19	38494555	.	G	A	171.19	.	AC=2;AF=0.143;AN=14;DP=213;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=24.46;SOR=0.941	GT:AD:DP:GQ:PL	1/1:0,7:7:21:192,21,0	6	1	0	0
chr19	38733773	38733773	A	-	exonic	CAPN12	.	frameshift deletion	CAPN12:NM_144691:exon18:c.1887delT:p.F629Lfs*12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	43.4	35	chr19	38733772	.	TA	T	43.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.068;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.2;ReadPosRankSum=-1.981;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:54:0|1:38733772_TA_T:54,0,166:38733772	6	0	1	0
chr19	38733773	38733773	A	0	exonic	CAPN12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	15859.8	82	chr19	38733773	.	A	*	15859.8	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.321;DP=586;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=27.63;ReadPosRankSum=-1.044;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,2:7:54:1|0:38733772_TA_T:245,157,166:38733772	6	0	1	0
chr19	38733774	38733774	A	G	exonic	CAPN12	.	nonsynonymous SNV	CAPN12:NM_144691:exon18:c.T1886C:p.F629S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.541	0.0860008720143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.83351	D	0.937	0.52445	P	0.645	0.52270	P	0.000013	0.62929	D	0.113900	0.987587	0.40615	D	4.24	0.98003	H	-0.46	0.70014	T	-6.51	0.91653	D	0.953	0.96187	-0.1228	0.79569	T	0.507	0.81454	D	10	0.9644434	0.95901	D	0.086001	0.74647	D	0.541	0.80842	0.783	0.90693	0.729663953973	0.72726	0.6853421081630479	0.68473	0.152845053789	0.17248	0.615104317665	0.55037	T	0.460848	0.79786	T	0.366988	0.87790	D	0.289377	0.87634	D	0.999412417411804	0.97310	D	0.422958	0.21881	T	0.85128045	0.87431	0.67029804	0.80656	0.85128045	0.87432	0.67029804	0.80657	-11.854	0.84132	D	.	.	0.912	0.83563	P	.;.;.	.;.;.	3.862548	0.56023	23.7	0.99720375300981878	0.81984	0.82762	0.41946	D	AEDGBHCIJ	0.594400	0.58935	D	0.407054074570214	0.61809	4.387199	0.187380851813132	0.49154	3.122121	0.999999995811125	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.643519	0.47002	0	0.662026	0.63922	0	.	.	3.94	2.9	0.32809	4.831000	0.62441	7.989000	0.76104	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.065000	0.16320	0.6932:0.0:0.1109:0.1959	3.462	0.07102	689	0.59000	EF-hand domain;EF-hand domain;EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	43.44	40	chr19	38733774	.	A	G	43.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.068;DP=238;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.21;ReadPosRankSum=-1.981;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:54:0|1:38733772_TA_T:54,0,166:38733772	6	0	1	0
chr19	38930489	38930489	G	A	exonic	SARS2	.	nonsynonymous SNV	SARS2:NM_001145901:exon1:c.C248T:p.S83L,SARS2:NM_017827:exon1:c.C248T:p.S83L	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, Autosomal recessive	0	1451	68	3	0	74	0.0248656	.	.	.	142664	Hyperuricemia,_pulmonary_hypertension,_renal_failure,_alkalosis_syndrome|not_specified|not_provided	MONDO:MONDO:0013458,MedGen:C3151209,OMIM:613845,Orphanet:363694|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.096	.	0.0064	0.0091853	0.0100	0.0020	0.0067	0.0001	0.0046	0.0090	0.0153	0.0273	0.0093725	1449	154602	rs34050897	0.0096	0.0096	0.0091	0.0102	0.0259	0.0095	0.0095	0.0250	0.0246	0.0020	0.0069	0.0027	0.0001	0.0044	0.0141	0.0094	0.0097	0.0259	0.0066	0.0066	0.0066	0.0066	0.0259	0.0063	0.0061	0.0222	0.0208	0.0018	0	0.0059	0.0026	0.0004	0.0030	0.0136	0.0095	0.0099	0.0259	0.327	0.13262	T	0.312	0.19660	T	0.077	0.24313	B	0.004	0.10090	B	0.014799	0.28429	N	0.367956	.	.	.	0.345	0.11182	N	0.49	0.55775	T	-1.17	0.31375	N	0.179	0.29544	-0.7507	0.57899	T	0.096	0.36263	T	9	0.003596574	0.00065	T	.	.	.	0.096	0.27654	.	.	0.701561391093	0.69897	0.2950527999363668	0.29418	0.273909488683	0.29889	0.44043302536	0.30635	T	0.072744	0.34529	T	-0.482439	0.00716	T	-0.44617	0.28119	T	0.0226525112198306	0.00983	T	.	.	.	0.10467068	0.24745	0.14380763	0.34163	0.10447656	0.24699	0.14380763	0.34162	-4.243	0.31805	T	.	.	0.085	0.12750	B	.;.;.	.;.;.	2.975981	0.39681	21.0	0.9621310437656867	0.29063	0.26748	0.23082	N	ALL	0.164522	0.29092	N	-0.237899072677068	0.31589	1.77281	-0.233137074387494	0.30356	1.708518	1.0	0.98316	0.468429	0.09910	2	0.504199	0.08210	0	0.504199	0.09095	0	0.241949	0.04745	2	.	.	5.51	5.51	0.81769	2.031000	0.40737	11.638000	0.93763	0.676000	0.76740	0.048000	0.21332	1.000000	0.68203	0.010000	0.09038	0.0:0.0:1.0:0.0	14.793	0.69479	680	0.59965	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010617	0.015152	0.004087	0.000000	0.000000	0.000000	0.030488	0.018939	0.1429	485.24	33	chr19	38930489	.	G	A	485.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.41;DP=238;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=6.56;ReadPosRankSum=0.524;SOR=0.614	GT:AD:DP:GQ:PL	0/1:3,2:5:35:35,0,54	5	0	2	0
chr19	38932690	38932692	AGA	-	exonic	MRPS12	.	nonframeshift deletion	MRPS12:NM_021107:exon2:c.407_409del:p.K138del,MRPS12:NM_033362:exon3:c.407_409del:p.K138del,MRPS12:NM_033363:exon3:c.407_409del:p.K138del	.	421	1083	18	0	0	18	0.00824176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0034	0.00239617	0.0046	0.0007	0.0034	0	0.0202	0.0049	0.0138	0.0023	0.0003842	10	26028	rs563094654	0.0043	0.0043	0.0044	0.0042	0.0043	0.0042	0.0042	0.0041	0.0041	0.0010	0.0037	3.829e-05	5.039e-05	0.0180	0.0026	0.0043	0.0041	0.0022	0.0038	0.0039	0.0031	0.0046	0.0040	0.0036	0.0035	0.0036	0.0034	0.0008	0	0.0030	0	0.0004	0.0194	0	0.0040	0.0057	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003528	0.000000	0.001359	0.000000	0.000000	0.008621	0.012195	0.007576	0.1429	933.2	33	chr19	38932689	.	CAGA	C	933.2	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.917;DP=221;ExcessHet=0.3476;FS=1.134;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=15.82;ReadPosRankSum=-0.253;SOR=0.948	GT:AD:DP:GQ:PL	0/1:4,2:6:72:72,0,162	5	0	2	0
chr19	40238946	40238946	C	A	exonic	AKT2	.	nonsynonymous SNV	AKT2:NM_001243028:exon7:c.G481T:p.D161Y,AKT2:NM_001330511:exon7:c.G667T:p.D223Y,AKT2:NM_001243027:exon8:c.G481T:p.D161Y,AKT2:NM_001626:exon8:c.G667T:p.D223Y	Diabetes mellitus, type II, Autosomal dominant;Hypoinsulinemic hypoglycemia with hemihypertrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.0376802994016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.048	0.56640	D	0.99	0.63424	D	0.798	0.58097	P	0.000000	0.84330	D	0.086699	1	0.81001	D	1.985	0.53793	M	1.67	0.27331	T	-8.42	0.97170	D	0.905	0.92550	-0.8473	0.52155	T	0.187	0.53782	T	10	0.8234671	0.81537	D	0.03768	0.57762	D	0.487	0.77528	0.658	0.79585	0.855188787804	0.85379	0.8799715672205642	0.87965	2.12843697498	0.95139	0.857842087746	0.90792	D	0.537184	0.84088	D	0.223107	0.76071	D	0.0827012	0.75759	D	0.995133340358734	0.86890	D	0.957404	0.84537	D	0.9293557	0.94173	0.8371789	0.90653	0.9293557	0.94174	0.8371789	0.90653	-14.927	0.95679	D	.	.	0.886	0.90664	P	.;.;.;.;.	.;.;.;.;.	5.538945	0.91944	32	0.99467771381138492	0.66154	0.99774	0.99369	D	AEFDBI	0.942576	0.94733	D	0.80089561001112	0.86161	8.797763	0.790092335690959	0.89097	9.836752	0.999999999731587	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.35	5.35	0.76297	7.848000	0.85199	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:1.0:0.0:0.0	18.003	0.89125	867	0.32089	Protein kinase domain|Protein kinase domain|Protein kinase domain|Protein Kinase B beta, catalytic domain;.;.;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	37	chr19	40238946	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr19	41895484	41895484	C	A	exonic	ARHGEF1	.	nonsynonymous SNV	ARHGEF1:NM_198977:exon11:c.C914A:p.P305Q,ARHGEF1:NM_004706:exon12:c.C1013A:p.P338Q,ARHGEF1:NM_199002:exon12:c.C1058A:p.P353Q	.	.	.	.	.	.	.	.	0.9471	0.736	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0633676471881	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.55530	D	0.149	0.92824	T	0.932	0.77913	P	0.451	0.73157	P	0.319988	0.14287	N	0.649781	0.589188	0.31034	N	2.19	0.61577	M	-0.02	0.65931	T	-1.7	0.40468	N	0.269	0.46180	-0.4152	0.71545	T	0.316	0.68549	T	10	0.18871874	0.34440	T	0.063368	0.68947	D	0.118	0.32913	0.29	0.25081	0.762267092428	0.76010	0.2962339415622848	0.29536	0.712814376389	0.61783	0.374560117722	0.21483	T	0.274255	0.64674	T	-0.0945361	0.37327	T	-0.373571	0.36471	T	0.75022566318512	0.43297	D	0.756024	0.57175	T	0.108529486	0.25661	0.11251137	0.27149	0.108529486	0.25661	0.11251137	0.27148	-5.031	0.37981	T	.	.	0.099	0.16538	B	.;.;.;.;.;.	.;.;.;.;.;.	4.107508	0.61298	24.3	0.99222660045443811	0.55963	0.94462	0.61243	D	AEFDBI	0.346217	0.44110	N	0.426966953263591	0.62910	4.514926	0.426803065777087	0.63241	4.553959	0.999999961312965	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.46	4.46	0.53567	1.126000	0.30958	2.098000	0.30587	0.599000	0.40250	0.063000	0.21864	0.197000	0.23541	0.953000	0.50222	0.0:1.0:0.0:0.0	12.869	0.57345	668	0.61153	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	11	chr19	41895484	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=173;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr19	42287886	42287886	C	T	exonic	CIC	.	nonsynonymous SNV	CIC:NM_001379484:exon6:c.C842T:p.A281V,CIC:NM_001379485:exon6:c.C842T:p.A281V,CIC:NM_015125:exon6:c.C842T:p.A281V,CIC:NM_001304815:exon7:c.C3569T:p.A1190V,CIC:NM_001379480:exon7:c.C3569T:p.A1190V,CIC:NM_001379482:exon7:c.C3569T:p.A1190V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.0229482169628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.44358	D	0.179	0.30436	T	0.141	0.27581	B	0.019	0.18783	B	.	.	.	.	0.592935	0.32472	D	-1.1	0.00987	N	-5.11	0.98715	D	-1.27	0.31981	N	0.152	0.15609	-0.9315	0.43918	T	0.082	0.32237	T	8	0.08637345	0.14674	T	0.022948	0.45881	T	0.023	0.04649	0.158	0.06178	0.614043529789	0.61093	0.8018469463543568	0.80138	1.54599419813	0.87825	0.639968156815	0.58560	T	0.019834	0.43002	T	0.0831202	0.62405	D	-0.11838	0.61936	T	0.256219825988137	0.23149	T	0.857514	0.54691	D	0.058729026	0.11850	0.09418659	0.22283	0.058729026	0.11850	0.09418659	0.22283	-6.272	0.48500	T	.	.	0.102	0.18122	B	.;.;.	.;.;.	4.117540	0.61514	24.3	0.99740060433149791	0.83409	0.80489	0.40113	D	AEFBI	0.123372	0.23894	N	-0.0860837107894081	0.38002	2.219213	0.0761997521282363	0.43353	2.638943	0.999934137006888	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.59	4.59	0.56297	1.249000	0.32441	4.071000	0.41665	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.8974:0.0:0.1026	8.509	0.32367	645	0.63593	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	39	chr19	42287886	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr19	42754362	42754362	C	A	exonic	PSG8	.	nonsynonymous SNV	PSG8:NM_001130168:exon4:c.G848T:p.S283I,PSG8:NM_001130167:exon5:c.G1214T:p.S405I,PSG8:NM_182707:exon5:c.G1214T:p.S405I	.	11	1510	1	0	0	1	0.000331016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00067063572592	0.0002	0.000399361	0.0003	0	0.0004	0	0	0.0004	0	0.0002	0.0002458	38	154602	rs200488282	0.0003	0.0003	0.0002	0.0003	0.0007	0.0002	0.0002	0.0002	0.0002	0	0.0002	0.0041	0	3.744e-05	0.0007	0.0002	0.0005	0.0003	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	7.222e-05	0	0.0003	0.0040	0	0	0	0.0004	0	0	0.141	0.35918	T	0.097	0.39190	T	0.002	0.15535	B	0.008	0.24394	B	.	.	.	.	1	0.08975	N	1.225	0.30651	L	2.61	0.13095	T	-2.07	0.57920	N	0.104	0.08786	-0.9634	0.38527	T	0.023	0.09832	T	9	0.008195132	0.00186	T	6.71E-4	0.00383	T	0.011	0.01250	.	.	0.0297737177859	0.01360	0.05160279279883964	0.05102	0.00656387583243	0.00574	0.328782379627	0.14750	T	0.005934	0.05373	T	-0.56439	0.00239	T	-0.703545	0.05634	T	0.0145685278649096	0.00299	T	0.467453	0.17633	T	0.08160457	0.18760	0.07244502	0.15630	0.08160457	0.18760	0.07244502	0.15630	-4.847	0.42398	T	.	.	0.07	0.08129	B	.;.;.;.	.;.;.;.	-0.692747	0.01337	0.074	0.28839306725678643	0.01500	0.00239	0.01331	N	AEFI	0.026628	0.02034	N	-1.7335852550797	0.00729	0.03149382	-1.82795332351125	0.00674	0.02997004	2.04973537632182E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.62	-1.25	0.08920	-1.787000	0.01861	-3.200000	0.02976	-3.091000	0.00125	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2599:0.5561:0.0:0.1841	2.831	0.05162	433	0.80627	.;.;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	191.44	35	chr19	42754362	.	C	A	191.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.1;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=1.86;SOR=0.941	GT:AD:DP:GQ:PL	0/1:10,7:17:99:202,0,196	6	0	1	0
chr19	43535145	43535145	C	T	exonic	ZNF575	.	nonsynonymous SNV	ZNF575:NM_174945:exon4:c.C196T:p.P66S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.0201615316833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.23997	T	0.039	0.51112	D	0.794	0.44757	P	0.285	0.40506	B	0.015180	0.28322	N	0.172032	0.506765	0.31786	D	0.27	0.09956	N	0.61	0.53516	T	-1.99	0.45949	N	0.353	0.40864	-1.0131	0.25943	T	0.063	0.26065	T	10	0.10917696	0.20356	T	0.020162	0.42696	T	0.070	0.20419	0.321	0.30064	0.449283877778	0.44552	0.3951623953370396	0.39431	1.29012888317	0.82767	0.906857728958	0.97164	D	0.02003	0.20388	T	-0.209766	0.19411	T	-0.539091	0.18387	T	0.308147838411513	0.25338	T	0.841716	0.52922	T	0.09139547	0.21415	0.08419413	0.19349	0.09139547	0.21415	0.08419413	0.19349	-6.569	0.50816	T	.	.	0.188	0.48644	B	.;.;.;.	.;.;.;.	2.863885	0.37848	20.6	0.99827150325543812	0.90939	0.27528	0.23303	N	AEFDBI	0.157473	0.28299	N	-0.500404737136343	0.22067	1.17573	-0.424088869613946	0.24293	1.329458	0.999981717265123	0.51787	0.660377	0.49826	0	0.694456	0.67091	0	0.607795	0.38427	0	0.567892	0.33627	0	.	.	4.47	3.41	0.38145	-0.128000	0.10508	.	.	0.599000	0.40250	0.000000	0.06391	0.996000	0.32793	0.785000	0.37106	0.0:0.8289:0.1711:0.0	12.418	0.54837	889	0.27310	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	35	chr19	43535145	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=201;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr19	43996525	43996525	A	T	exonic	ZNF155	.	nonsynonymous SNV	ZNF155:NM_001260486:exon5:c.A668T:p.Q223L,ZNF155:NM_001260487:exon5:c.A668T:p.Q223L,ZNF155:NM_003445:exon5:c.A668T:p.Q223L,ZNF155:NM_198089:exon5:c.A668T:p.Q223L,ZNF155:NM_001260488:exon6:c.A701T:p.Q234L	.	419	1050	49	4	0	57	0.0264256	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	0.0049	0.00519169	0.0063	0.0062	0.0062	0	0.0003	0.0047	0.0044	0.0184	0.0056209	869	154602	rs62640893	0.0041	0.0041	0.0035	0.0047	0.0199	0.0040	0.0040	0.0191	0.0188	0.0064	0.0055	0.0411	2.519e-05	0.0003	0.0160	0.0020	0.0066	0.0199	0.0053	0.0053	0.0050	0.0057	0.0168	0.0050	0.0049	0.0138	0.0127	0.0074	0	0.0084	0.0374	0	9.411e-05	0.0136	0.0021	0.0066	0.0168	0.084	0.32929	T	0.087	0.41742	T	0.981	0.59675	D	0.905	0.64260	P	.	.	.	.	0.997188	0.22759	N	0.18	0.09070	N	3.42	0.05507	T	-4.18	0.75615	D	0.116	0.13769	-1.0267	0.21527	T	0.039	0.16849	T	9	0.004463047	0.00092	T	.	.	.	0.030	0.07022	.	.	0.31077124679	0.30691	0.030600505512641492	0.03009	0.0959658060652	0.10830	0.27735710144	0.07127	T	0.042552	0.26220	T	-0.615684	0.00117	T	-0.642884	0.09460	T	0.051471745858201	0.05757	T	0.20468	0.02388	T	0.06652734	0.14321	0.08079469	0.18306	0.06652734	0.14321	0.08079469	0.18306	-5.602	0.42810	T	.	.	0.177	0.42375	B	.;.;.;.	.;.;.;.	1.051754	0.14328	10.91	0.99437527373424284	0.64571	0.11856	0.16905	N	AEFBI	0.057234	0.10646	N	-0.680687512903077	0.16572	0.8455478	-0.791843044207809	0.14695	0.7691477	0.00535347471497114	0.10912	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	2.59	1.48	0.21900	0.053000	0.14067	.	.	-0.701000	0.04053	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.7917:0.0:0.0:0.2083	6.836	0.23118	620	0.66037	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|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	0.020141	0.030303	0.019022	0.017544	0.000000	0.000000	0.012195	0.022727	0.2143	11429.7	119	chr19	43996525	.	A	T	11429.7	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.665;DP=1240;ExcessHet=0;FS=1.272;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=31.4;ReadPosRankSum=-1.86;SOR=0.588	GT:AD:DP:GQ:PL	0/1:9,4:13:93:93,0,218	5	1	1	0
chr19	45060466	45060466	C	T	exonic	CLASRP	.	nonsynonymous SNV	CLASRP:NM_001278439:exon8:c.C602T:p.S201L,CLASRP:NM_007056:exon9:c.C788T:p.S263L	.	.	.	.	.	.	.	.	0.4349	0.502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.310	0.133660761497	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.68238	D	0.013	0.76473	D	1.0	0.90584	D	0.984	0.76113	D	0.006952	0.31695	U	0.000000	1	0.81001	D	.	.	.	1.21	0.56281	T	-4.86	0.81755	D	0.8	0.83371	-0.5051	0.68464	T	0.287	0.65841	T	10	0.6263567	0.68265	D	0.133661	0.81605	D	0.310	0.63162	0.227	0.15257	0.372491666437	0.36864	0.6981101706443243	0.69752	1.68168134764	0.89993	0.822185456753	0.85364	D	0.142639	0.47833	T	0.201462	0.74028	D	0.0516095	0.73690	D	0.992237865924835	0.82666	D	0.975702	0.91601	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.994	0.94895	P	.;.;.	.;.;.	6.347172	0.95057	34	0.99924870763971307	0.98980	0.96301	0.68472	D	AEFBCI	0.904399	0.85465	D	0.546382117716747	0.69861	5.417722	0.515929283904331	0.69060	5.306918	0.999913766676895	0.45857	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	4.77	3.73	0.41982	7.259000	0.77791	7.683000	0.65396	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9054:0.0:0.0946	10.493	0.43947	940	0.13648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	145.44	36	chr19	45060466	.	C	T	145.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.21;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=24.24;ReadPosRankSum=1.38;SOR=0.707	GT:AD:DP:GQ:PL	0/1:1,5:6:16:156,0,16	6	0	1	0
chr19	45768480	45768480	C	A	exonic	SIX5	.	nonsynonymous SNV	SIX5:NM_175875:exon1:c.G365T:p.G122V	Branchiootorenal syndrome 2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.511	0.930099708709	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.003	0.76473	D	0.802	0.45105	P	0.435	0.45529	B	0.020870	0.26948	N	0.398073	1	0.81001	D	1.28	0.32218	L	-2.67	0.90332	D	-5.57	0.86372	D	0.629	0.64308	0.132	0.84743	D	0.549	0.83446	D	10	0.68570614	0.71548	D	0.930	0.99493	D	0.511	0.79033	0.285	0.24280	0.898348878239	0.89733	0.674297449331751	0.67367	3.74263087996	0.99852	0.953834414482	0.99825	D	0.883196	0.97568	D	0.139235	0.68253	D	-0.0377746	0.67851	D	0.960419774055481	0.65799	D	0.629737	0.24459	T	0.6428866	0.74985	0.7225692	0.83617	0.6428866	0.74986	0.7225692	0.83617	-9.611	0.71548	D	0.3749965040411953	0.47011	0.652	0.71010	P	.;.	.;.	5.228774	0.87761	29.4	0.99422069851494466	0.63838	0.80248	0.39936	D	ALL	0.716994	0.66865	D	0.0764546068183864	0.45366	2.794342	0.0873676641824601	0.43911	2.683217	0.999999999999976	0.74766	0.733237	0.96898	0	0.484254	0.07192	0	0.600757	0.32118	0	0.492483	0.08430	1	.	.	3.82	2.67	0.30756	3.163000	0.50462	7.403000	0.58588	0.504000	0.22967	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8036:0.1963:0.0	10.674	0.44969	799	0.44747	Homeobox protein SIX1, N-terminal SD domain;Homeobox protein SIX1, N-terminal SD domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.23	19	chr19	45768480	.	C	A	33.23	.	AC=2;AF=0.143;AN=14;DP=165;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr19	46230303	46230303	T	G	exonic	IGFL1	.	nonsynonymous SNV	IGFL1:NM_198541:exon3:c.T109G:p.C37G	.	429	1084	9	0	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	.	0.0046	0.00239617	0.0054	0.0008	0.0054	0	0.0130	0.0072	0.0056	0.0004	0.0053492	827	154602	rs187146043	0.0063	0.0063	0.0065	0.0061	0.0068	0.0062	0.0062	0.0066	0.0066	0.0011	0.0053	0.0106	0	0.0131	0.0055	0.0068	0.0060	0.0004	0.0059	0.0059	0.0055	0.0063	0.0075	0.0056	0.0054	0.0069	0.0067	0.0014	0.0099	0.0075	0.0089	0	0.0137	0.0136	0.0074	0.0118	0.0004	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.997	0.86255	D	0.001585	0.38554	N	0.000000	0.99622	0.23082	N	2.425	0.70256	M	0.21	0.59983	T	-11.7	0.99521	D	0.825	0.82057	-0.8196	0.53959	T	0.239	0.60691	T	10	0.03723228	0.02065	T	.	.	.	0.305	0.62620	.	.	0.534191878353	0.53070	0.7802701728234529	0.77978	0.264189448403	0.28968	0.363673508167	0.19920	T	0.147273	0.48528	T	-0.228338	0.16869	T	-0.0959219	0.63711	T	0.104620483713118	0.12857	T	0.433257	0.11819	T	0.58172077	0.71702	0.445996	0.67729	0.58172077	0.71704	0.445996	0.67729	-0.636	0.00673	T	.	.	0.612	0.69362	P	.	.	3.179877	0.43155	21.7	0.95757085069908743	0.27739	0.61672	0.31553	D	AEFBI	0.111020	0.21995	N	-0.019034625594135	0.40994	2.444238	-0.182073642364267	0.32195	1.829285	0.372296116402908	0.19882	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.76	1.7	0.23359	1.028000	0.29734	2.071000	0.30443	-0.980000	0.01901	0.899000	0.31403	1.000000	0.68203	0.056000	0.15673	0.2656:0.0:0.0:0.7343	5.038	0.13787	557	0.71576	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007049	0.020202	0.006793	0.002924	0.000000	0.008621	0.009146	0.000000	0.07143	92.44	35	chr19	46230303	.	T	G	92.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.5;DP=231;ExcessHet=0;FS=2.632;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.4;ReadPosRankSum=-1.2;SOR=1.535	GT:AD:DP:GQ:PL	0/1:7,4:11:99:103,0,156	6	0	1	0
chr19	49171675	49171677	TGG	-	exonic	TRPM4	.	nonframeshift deletion	TRPM4:NM_001321285:exon5:c.107_109del:p.L36_A37delinsP,TRPM4:NM_001321281:exon6:c.611_613del:p.L204_A205delinsP,TRPM4:NM_001321283:exon6:c.434_436del:p.L145_A146delinsP,TRPM4:NM_001195227:exon8:c.956_958del:p.L319_A320delinsP,TRPM4:NM_017636:exon8:c.956_958del:p.L319_A320delinsP	Progressive familial heart block, type IB, Autosomal dominant	1	1516	5	0	0	5	0.00164636	.	.	.	343988	Progressive_familial_heart_block_type_IB|Cardiovascular_phenotype|not_specified|Progressive_familial_heart_block	MONDO:MONDO:0011474,MedGen:C1970298,OMIM:604559,Orphanet:871|MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0019490,MedGen:CN230454,OMIM:PS113900,Orphanet:871	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	8e-05	.	0.0003	0	8.666e-05	0	0	6.157e-05	0.0011	0.0015	0.0002135	33	154602	rs764918057	0.0001	0.0001	8.577e-05	0.0002	0.0014	0.0001	0.0001	0.0012	0.0011	8.961e-05	2.236e-05	0	0	0	0.0009	4.407e-05	0.0002	0.0014	3.283e-05	3.281e-05	2.569e-05	4.029e-05	0.0006	1.26e-05	7.97e-06	0.0002	8.992e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002014	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.003788	0.07143	232.4	35	chr19	49171674	.	CTGG	C	232.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.967;DP=229;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=25.82;ReadPosRankSum=-0.241;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,6:9:99:243,0,108	6	0	1	0
chr19	49686613	49686613	-	C	exonic	PRMT1	.	frameshift insertion	PRMT1:NM_001207042:exon7:c.662dupC:p.Y223Vfs*77,PRMT1:NM_198318:exon9:c.866dupC:p.Y291Vfs*77,PRMT1:NM_001536:exon10:c.920dupC:p.Y309Vfs*77	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	33.4	35	chr19	49686613	.	T	TC	33.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.366;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.77;ReadPosRankSum=-1.465;SOR=0.446	GT:AD:DP:GQ:PL	0/1:5,2:7:44:44,0,142	6	0	1	0
chr19	53267316	53267316	G	C	exonic	VN1R4	.	nonsynonymous SNV	VN1R4:NM_173857:exon1:c.C350G:p.A117G	.	429	996	97	0	0	97	0.0464337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	0.0745	.	0.0723	0.1661	0.0578	0.1678	0.0343	0.0512	0.0526	0.0748	0.0574507	8882	154602	rs74359534	0.0001	0.0012	0.0001	0.0001	0.0005	0.0001	0.0001	0.0003	0.0002	0.0005	2.243e-05	3.834e-05	0.0003	0.0005	0	8.66e-05	0.0002	0.0002	0.0005	0.0022	0.0004	0.0006	0.0016	0.0004	0.0004	0.0008	0.0007	0.0011	0	0.0002	0.0003	0.0016	0.0002	0	0.0002	0.0005	0.0013	0.022	0.48642	D	0.031	0.53788	D	.	.	.	.	.	.	0.544248	0.05332	N	1.356640	1	0.08975	N	.	.	.	1.22	0.37052	T	-2.67	0.57110	D	0.067	0.03956	-0.9924	0.31985	T	0.002	0.00526	T	10	0.0025487542	0.00039	T	.	.	.	0.048	0.13305	.	.	.	.	0.05313922711391094	0.05255	0.384759530948	0.39774	0.249634504318	0.03729	T	.	.	.	-0.723375	0.00026	T	-0.704733	0.05570	T	0.0342202795027098	0.02675	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.12084	B	.	.	1.325632	0.17306	13.08	0.87963315563257027	0.17613	0.00907	0.03546	N	AEFGBI	0.029181	0.02709	N	-0.884326474785515	0.11215	0.5400046	-1.06817902281054	0.08332	0.4092313	4.69142761911595E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.28	-0.254	0.12350	0.747000	0.25956	.	.	-0.917000	0.02218	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.4302:0.3517:0.2182	5.387	0.15525	994	0.00715	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.090131	0.111111	0.103261	0.064327	0.050000	0.077586	0.091463	0.087121	0.1429	33.22	33	chr19	53267316	.	G	C	33.22	.	AC=2;AF=0.143;AN=14;DP=261;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=33;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr19	54739533	54739533	C	A	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291696:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291700:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291701:exon2:c.C61A:p.P21T,LOC102725023:NM_001360171:exon2:c.C61A:p.P21T,KIR2DS2:NM_012312:exon2:c.C61A:p.P21T,KIR2DS3:NM_012313:exon2:c.C61A:p.P21T,KIR2DL1:NM_014218:exon2:c.C61A:p.P21T,KIR2DL2:NM_014219:exon2:c.C61A:p.P21T,KIR2DL3:NM_015868:exon2:c.C61A:p.P21T	.	407	439	674	2	0	678	0.435733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.000629482271791	.	.	1.26e-05	0	0	0	0	0	0	0.0002	0.0001153	3	26028	rs143258060	0.0001	0.0014	0.0001	0.0001	0.0003	0.0001	9.739e-05	0.0002	0.0002	0	0.0002	0	7.578e-05	0.0015	0.0002	4.598e-05	8.31e-05	0.0003	0.0003	0.0064	0.0002	0.0005	0.0007	0.0002	0.0002	0.0004	0.0003	9.821e-05	0	0.0007	0	0.0002	0.0010	0	0.0003	0	0.0004	0.0	0.91255	D	0.05	0.48080	T	0.039	0.21116	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	1.675	0.43121	L	7.25	0.00428	T	-2.83	0.59710	D	0.057	0.02861	-0.7967	0.55338	T	0.003	0.00929	T	9	0.04721421	0.04010	T	6.29E-4	0.00319	T	0.067	0.19503	0.275	0.22687	0.333906830038	0.33007	0.11003837353837338	0.10932	3.22852605899	0.99523	.	.	.	0.024485	0.18493	T	-0.40546	0.02131	T	-0.633654	0.10139	T	0.262085987067051	0.23406	T	.	.	.	0.08533072	0.19789	0.12122417	0.29249	0.08533072	0.19789	0.12122417	0.29248	-6.294	0.48674	T	.	.	0.091	0.13268	B	.	.	-0.337065	0.02459	0.283	0.40733743298301972	0.02894	0.00183	0.01069	N	AEFDGBI	0.020550	0.00823	N	-1.61360564278005	0.01198	0.05208234	-1.880969786367	0.00533	0.02366577	0.225960784001686	0.18410	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.418	-0.836	0.10225	-1.270000	0.02939	.	.	-4.224000	0.00037	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3954:0.2043:0.1975:0.2028	0.314	0.00272	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	5690.48	294	chr19	54739533	.	C	A	5690.48	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.49;DP=1770;ExcessHet=8.2628;FS=0;MLEAC=6;MLEAF=0.429;MQ=55.69;MQRankSum=1.86;QD=3.35;ReadPosRankSum=1.3;SOR=0.752	GT:AD:DP:GQ:PL	0/1:16,6:22:99:152,0,359	1	0	6	0
chr19	54758755	54758755	C	A	exonic	LOC112267881	.	unknown	UNKNOWN	.	452	1059	10	1	0	12	0.0056338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00159744	.	.	.	.	.	.	.	.	0.000511	79	154602	rs531972961	0.0095	0.0090	0.0096	0.0094	0.0111	0.0094	0.0093	0.0110	0.0109	0.0017	0.0021	0.0065	0	0.0088	0.0026	0.0111	0.0081	0.0033	0.0066	0.0063	0.0070	0.0062	0.0107	0.0062	0.0061	0.0100	0.0098	0.0020	0.0013	0.0025	0.0050	0	0.0096	0	0.0107	0.0072	0.0038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	208.44	199	chr19	54758755	.	C	A	208.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.653;DP=1129;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.53;MQRankSum=1.13;QD=6.32;ReadPosRankSum=0.581;SOR=0.61	GT:AD:DP:GQ:PL	0/1:21,12:33:99:219,0,569	6	0	1	0
chr19	54767313	54767313	G	C	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.G992C:p.R331T	.	436	1047	27	12	0	51	0.0237762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs4020182	1.906e-05	2.713e-05	2.388e-05	1.419e-05	4.618e-05	1.305e-05	1.119e-05	1.508e-05	1.267e-05	0	4.618e-05	0	0	1.907e-05	0	2.23e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	275.24	258	chr19	54767313	.	G	C	275.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.202;DP=1608;ExcessHet=0.3476;FS=7.148;MLEAC=2;MLEAF=0.143;MQ=57.61;MQRankSum=-4.389;QD=1.92;ReadPosRankSum=-0.101;SOR=1.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,3:21:72:0|1:54767313_G_C:72,0,747:54767313	5	0	2	0
chr19	54767314	54767314	A	C	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.A993C:p.R331S	.	437	1046	27	12	0	51	0.0237984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs4020183	9.31e-05	0.0054	7.637e-05	0.0001	0.0003	7.988e-05	7.514e-05	0.0002	0.0001	0.0003	0.0003	0.0002	0.0001	0.0001	0.0002	7.38e-05	5.179e-05	0.0001	0.0002	0.0045	0.0002	0.0003	0.0005	0.0002	0.0002	0.0001	9.824e-05	0.0002	0	0.0003	0	0.0002	0	0.0039	0.0002	0.0016	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	317.24	258	chr19	54767314	.	A	C	317.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.673;DP=1609;ExcessHet=0.3476;FS=5.091;MLEAC=2;MLEAF=0.143;MQ=57.58;MQRankSum=-4.389;QD=2.2;ReadPosRankSum=-0.05;SOR=1.348	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,3:21:72:0|1:54767313_G_C:72,0,747:54767313	5	0	2	0
chr19	54767315	54767315	G	A	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.G994A:p.V332M	.	436	1047	27	12	0	51	0.0237762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1339510286	2.758e-05	0.0016	1.97e-05	3.554e-05	0.0001	2.065e-05	1.813e-05	4.488e-05	2.953e-05	6.119e-05	0.0001	8.191e-05	5.081e-05	1.91e-05	0	1.767e-05	3.428e-05	7.226e-05	0.0001	0.0020	6.973e-05	0.0002	0.0005	7.182e-05	5.784e-05	0.0001	6.24e-05	2.598e-05	0	0.0003	0	0.0002	0	0	0.0001	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	356.24	258	chr19	54767315	.	G	A	356.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.456;DP=1611;ExcessHet=0.3476;FS=3.425;MLEAC=2;MLEAF=0.143;MQ=57.51;MQRankSum=-4.389;QD=2.44;ReadPosRankSum=-0.265;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,3:21:72:0|1:54767313_G_C:72,0,747:54767313	5	0	2	0
chr19	54767322	54767322	C	T	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.C1001T:p.T334M	.	436	1034	40	12	0	64	0.0300188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1274559595	3.256e-05	0.0020	3.239e-05	3.273e-05	0.0002	2.496e-05	2.232e-05	7.519e-05	5.313e-05	0.0001	0.0002	8.218e-05	0.0001	1.911e-05	0	1.768e-05	3.432e-05	8.472e-05	0.0001	0.0028	8.339e-05	0.0002	0.0004	9.419e-05	7.868e-05	0.0001	9.679e-05	2.591e-05	0	0.0004	0	0.0002	0	0	0.0002	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	.	.	.	.	.	.	.	.	0.1429	401.24	258	chr19	54767322	.	C	T	401.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.506;DP=1612;ExcessHet=0.3476;FS=4.824;MLEAC=2;MLEAF=0.143;MQ=57.34;MQRankSum=-4.154;QD=2.75;ReadPosRankSum=-0.056;SOR=1.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,3:19:78:0|1:54767313_G_C:78,0,663:54767313	5	0	2	0
chr19	54767339	54767339	G	A	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.G1018A:p.E340K	.	437	984	91	10	0	111	0.0533911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1372790026	1.835e-05	2.225e-05	2.247e-05	1.418e-05	2.535e-05	1.277e-05	1.085e-05	1.422e-05	1.188e-05	0	0	0	2.535e-05	1.906e-05	0	2.136e-05	1.709e-05	0	6.928e-06	6.727e-06	1.348e-05	0	1.538e-05	0	0	.	.	0	0	0	0	0	0	0	1.538e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	398.24	258	chr19	54767339	.	G	A	398.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.336;DP=1613;ExcessHet=0.3476;FS=0.912;MLEAC=2;MLEAF=0.143;MQ=57.34;MQRankSum=-4.519;QD=2.71;ReadPosRankSum=0.849;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,4:22:99:0|1:54767339_G_A:114,0,723:54767339	5	0	2	0
chr19	54767342	54767342	T	C	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.T1021C:p.S341P	.	439	981	92	10	0	112	0.0540019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1213695475	0.0003	0.0051	0.0002	0.0003	0.0011	0.0002	0.0002	0.0009	0.0008	0.0004	0.0011	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0005	0.0067	0.0006	0.0004	0.0011	0.0004	0.0004	0.0009	0.0008	0.0011	0.0012	0.0004	0.0003	0	0	0.0037	0.0002	0.0016	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	392.24	258	chr19	54767342	.	T	C	392.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.685;DP=1614;ExcessHet=0.3476;FS=0.911;MLEAC=2;MLEAF=0.143;MQ=57.36;MQRankSum=-4.736;QD=2.63;ReadPosRankSum=1.02;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,4:24:99:0|1:54767339_G_A:108,0,807:54767339	5	0	2	0
chr19	54767349	54767349	C	-	exonic	KIR2DL1;LOC112267881	.	frameshift deletion	KIR2DL1:NM_014218:exon8:c.1028delC:p.S343fs	.	439	964	109	10	0	129	0.0627127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.062e-07	3.477e-06	1.406e-06	0	2.535e-05	0	0	.	.	0	0	0	2.535e-05	0	0	0	0	0	0	6.726e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	350.2	258	chr19	54767348	.	TC	T	350.2	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.144;DP=1613;ExcessHet=0.3476;FS=0.943;MLEAC=2;MLEAF=0.143;MQ=57.51;MQRankSum=-4.736;QD=2.37;ReadPosRankSum=1.45;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,4:24:99:0|1:54767339_G_A:108,0,828:54767339	5	0	2	0
chr19	54767352	54767354	AAG	-	exonic	KIR2DL1;LOC112267881	.	nonframeshift deletion	KIR2DL1:NM_014218:exon8:c.1031_1033del:p.344_345del	.	437	959	116	10	0	136	0.0662123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.118e-06	3.477e-06	2.811e-06	1.419e-06	2.535e-05	5.6e-07	1.6e-07	.	.	0	0	0	2.535e-05	0	0	0	1.709e-05	1.198e-05	0	6.715e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	368.2	258	chr19	54767351	.	AAAG	A	368.2	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.198;DP=1618;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=57.4;MQRankSum=-4.943;QD=2.45;ReadPosRankSum=1.69;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,4:26:99:0|1:54767339_G_A:102,0,871:54767339	5	0	2	0
chr19	54767353	54767353	A	0	exonic	KIR2DL1;LOC112267881	.	.	.	.	444	526	404	111	37	663	0.373063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	20255.9	293	chr19	54767353	.	A	*	20255.9	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-4.438;DP=1947;ExcessHet=1.4958;FS=0;MLEAC=2;MLEAF=0.143;MQ=58.6;MQRankSum=-0.648;QD=11.89;ReadPosRankSum=0.346;SOR=0.709	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,4:26:99:0|1:54767339_G_A:102,0,871:54767339	5	0	2	0
chr19	54773464	54773464	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.G202C:p.D68H,KIR2DL1:NM_014218:exon3:c.G202C:p.D68H,KIR2DS1:NM_014512:exon3:c.G202C:p.D68H,KIR2DS5:NM_014513:exon3:c.G202C:p.D68H	.	425	856	241	0	0	241	0.1234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.000804883088689	.	.	.	.	.	.	.	.	.	.	.	.	.	rs745536485	6.26e-06	0.0002	5.539e-06	6.987e-06	2.264e-05	2.95e-06	2.13e-06	3.15e-06	2.28e-06	0	2.264e-05	0	0	0	0	7.325e-06	0	0	0.0001	0.0024	0.0001	0.0001	0.0004	7.39e-05	6.091e-05	8.225e-05	5.802e-05	0.0002	0	0.0002	0	0	0	0	7.634e-05	0	0.0004	0.064	0.38407	T	0.247	0.23914	T	0.444	0.35956	B	0.198	0.36766	B	.	.	.	.	1	0.08975	N	.	.	.	2.03	0.20959	T	-2.52	0.54702	D	0.188	0.25130	-1.0056	0.28277	T	0.041	0.17657	T	9	0.1068652	0.19824	T	8.05E-4	0.00629	T	0.038	0.09825	0.276	0.22845	0.283761946502	0.27984	0.08192545392014942	0.08127	0.476618817085	0.46789	0.428809553385	0.29046	T	0.010046	0.09105	T	-0.210968	0.19242	T	-0.540818	0.18217	T	0.0742162314790902	0.09230	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.29833	B	.;.	.;.	0.494158	0.08635	5.403	0.86631705629094091	0.16667	0.00709	0.03002	N	AEFDBI	0.050506	0.08834	N	-0.947669841844548	0.09745	0.4625647	-1.15399594513377	0.06696	0.3231991	1.94292267281438E-5	0.02871	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	-1.93	0.07180	-0.459000	0.06805	.	.	-0.401000	0.05297	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2328:0.3114:0.4559:0.0	2.604	0.04579	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	3166.72	462	chr19	54773464	.	G	C	3166.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.64;DP=2411;ExcessHet=1.1394;FS=6.511;MLEAC=3;MLEAF=0.214;MQ=57.6;MQRankSum=-8.104;QD=3.43;ReadPosRankSum=-1.185;SOR=1.392	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,10:27:99:0|1:54773456_T_C:369,0,621:54773456	4	0	3	0
chr19	54773510	54773510	C	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.C248G:p.A83G,KIR2DL1:NM_014218:exon3:c.C248G:p.A83G,KIR2DS1:NM_014512:exon3:c.C248G:p.A83G,KIR2DS5:NM_014513:exon3:c.C248G:p.A83G	.	428	768	326	0	0	326	0.175081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00119558056772	.	.	.	.	.	.	.	.	.	.	.	.	.	rs530076007	0.0001	0.0040	0.0002	0.0001	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0.0002	0	2.556e-05	1.91e-05	0	0.0002	0.0001	0.0001	4.77e-05	0.0026	2.662e-05	6.981e-05	0.0002	2.18e-05	1.572e-05	1.992e-05	1.052e-05	7.514e-05	0	0	0	0.0002	0	0	4.565e-05	0	0	0.053	0.40832	T	0.104	0.38160	T	0.1	0.25713	B	0.33	0.42079	B	.	.	.	.	1	0.08975	N	.	.	.	2.06	0.20523	T	-2.38	0.52451	N	0.208	0.23758	-0.8637	0.50995	T	0.092	0.35119	T	9	0.13614216	0.25903	T	0.001196	0.01533	T	0.067	0.19503	0.605	0.73706	0.405150804464	0.40131	0.04592118071307132	0.04536	0.346524564405	0.36559	0.357214689255	0.18980	T	0.045691	0.27199	T	-0.175925	0.24344	T	-0.490481	0.23340	T	0.2225591391325	0.21591	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.32922	B	.;.	.;.	1.122996	0.15092	11.58	0.93936832440862883	0.23989	0.00979	0.03733	N	AEFDBI	0.047211	0.07926	N	-0.935946201820849	0.10011	0.4763772	-1.14448522620441	0.06868	0.3320446	1.159795150757E-5	0.02871	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	0.116	0.13953	0.259000	0.18174	.	.	-0.444000	0.05162	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	0.0:0.7435:0.0:0.2565	3.815	0.08327	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	5555.72	453	chr19	54773510	.	C	G	5555.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.685;DP=2656;ExcessHet=1.1394;FS=3.317;MLEAC=3;MLEAF=0.214;MQ=57.62;MQRankSum=-11.98;QD=5.22;ReadPosRankSum=2.14;SOR=1.009	GT:AD:DP:GQ:PL	0/1:27,11:38:99:381,0,638	4	0	3	0
chr19	54805957	54805957	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A368T:p.Y123F,KIR2DL4:NM_001080772:exon4:c.A368T:p.Y123F	.	425	734	362	1	0	364	0.19869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.000412457697702	.	.	.	.	.	.	.	.	.	.	0.0008452	22	26028	rs548305067	6.874e-07	4.789e-06	0	1.382e-06	9.011e-07	0	0	.	.	0	0	0	0	0	0	9.011e-07	0	0	0	2.635e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.083	0.33091	T	0.185	0.45744	T	0.029	0.25941	B	0.11	0.35187	B	.	.	.	.	1	0.08975	N	1.79	0.46772	L	5.76	0.00695	T	-2.94	0.62863	D	0.143	0.19055	-0.9456	0.41715	T	0.005	0.01651	T	9	0.09953773	0.18069	T	4.12E-4	0.00078	T	0.026	0.05648	.	.	0.0934897674506	0.08844	0.027781850178691565	0.02728	1.64456428975	0.89413	.	.	.	.	.	.	-0.296197	0.09024	T	-0.663243	0.08049	T	0.040030807459604	0.03696	T	.	.	.	.	.	.	.	.	.	.	.	-6.322	0.59734	T	.	.	0.166	0.39731	B	.;.;.;.;.;.	.;.;.;.;.;.	1.365047	0.17746	13.34	0.8690361499563457	0.16852	0.00313	0.01653	N	AEFDBI	0.037221	0.05085	N	-0.949558894302633	0.09702	0.4603585	-1.11896342680627	0.07338	0.3565461	1.17956831403963E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.172	0.12673	-0.279000	0.08512	.	.	-0.540000	0.04934	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5945:0.4055:0.0:0.0	3.728	0.08011	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	4352.11	174	chr19	54805957	.	A	T	4352.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=3.43;DP=1267;ExcessHet=4.7409;FS=7.958;MLEAC=5;MLEAF=0.357;MQ=57.01;MQRankSum=-13.09;QD=4.16;ReadPosRankSum=0.61;SOR=1.411	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,2:12:54:0|1:54805940_TCTC_T:54,0,414:54805940	2	0	5	0
chr19	54805960	54805960	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A371G:p.E124G,KIR2DL4:NM_001080772:exon4:c.A371G:p.E124G	.	423	736	362	1	0	364	0.198257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.000765021981206	.	.	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs796298317	6.871e-07	4.789e-06	0	1.381e-06	9.009e-07	0	0	.	.	0	0	0	0	0	0	9.009e-07	0	0	0	2.634e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.122	0.27663	T	0.119	0.39190	T	0.007	0.14184	B	0.002	0.12133	B	.	.	.	.	1	0.08975	N	-0.045	0.04980	N	2.62	0.12988	T	-3.74	0.71042	D	0.211	0.23506	-0.9370	0.43088	T	0.002	0.00676	T	9	0.05600232	0.06209	T	7.65E-4	0.00549	T	0.010	0.01040	.	.	0.043077524339	0.03247	0.06409426405292065	0.06348	1.75526258725	0.91031	.	.	.	.	.	.	-0.331698	0.05984	T	-0.714237	0.05079	T	0.0368346457453638	0.03126	T	.	.	.	.	.	.	.	.	.	.	.	-2.952	0.34463	T	.	.	0.072	0.17103	B	.;.;.;.;.;.	.;.;.;.;.;.	0.634502	0.10029	6.781	0.88093227450565881	0.17711	0.00125	0.00780	N	AEFDBI	0.028794	0.02603	N	-1.26647521352365	0.04087	0.1837661	-1.38178856189957	0.03446	0.1607592	2.06444612407306E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.55	0.08105	-0.492000	0.06547	.	.	-1.507000	0.01020	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5179:0.0:0.4821:0.0	4.324	0.10473	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	4916.11	184	chr19	54805960	.	A	G	4916.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=3.06;DP=1304;ExcessHet=4.7409;FS=6.296;MLEAC=5;MLEAF=0.357;MQ=56.94;MQRankSum=-13.44;QD=4.54;ReadPosRankSum=0.472;SOR=1.333	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,2:12:54:0|1:54805940_TCTC_T:54,0,414:54805940	2	0	5	0
chr19	54805974	54805974	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A385T:p.T129S,KIR2DL4:NM_001080772:exon4:c.A385T:p.T129S	.	422	677	422	1	0	424	0.23847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.00369938800555	.	.	5.567e-05	0	0.0007	0	0	0	0	0	.	.	.	rs748394765	3.431e-06	1.3e-05	4.096e-06	2.759e-06	2.701e-06	1.01e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.701e-06	3.326e-05	0	6.662e-06	6.588e-05	1.3e-05	0	6.616e-05	0	0	.	.	0	0	6.616e-05	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.001108	0.00740	N	7.200430	1	0.08975	N	-3.165	0.00009	N	2.73	0.11839	T	1.22	0.01712	N	0.056	0.03613	-0.8748	0.50166	T	0.006	0.01870	T	10	0.013647258	0.00289	T	0.003699	0.08558	T	0.102	0.29158	.	.	0.143184338766	0.13958	0.027044094549388754	0.02654	1.39109223815	0.85005	.	.	.	.	.	.	-0.462046	0.00955	T	-0.901474	0.00492	T	0.0748926305845455	0.09321	T	.	.	.	.	.	.	.	.	.	.	.	-0.763	0.00889	T	.	.	0.064	0.05845	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.834838	0.01040	0.044	0.53029054606884674	0.04860	0.00012	0.00170	N	AEFDBI	0.015392	0.00291	N	-2.01882774161932	0.00193	0.008257516	-1.94356271259806	0.00400	0.01770385	1.17063954684405E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.0469	0.13174	0.292000	0.18766	.	.	-0.624000	0.04539	0.002000	0.15269	0.000000	0.08366	0.005000	0.06747	0.3872:0.0:0.0:0.6128	3.134	0.06046	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	7636.11	202	chr19	54805974	.	A	T	7636.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=4.08;DP=1447;ExcessHet=4.7409;FS=4.344;MLEAC=5;MLEAF=0.357;MQ=56.86;MQRankSum=-13.23;QD=6.23;ReadPosRankSum=0.044;SOR=1.089	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,2:12:54:0|1:54805940_TCTC_T:54,0,414:54805940	2	0	5	0
chr19	54805981	54805981	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G392A:p.R131Q,KIR2DL4:NM_001080772:exon4:c.G392A:p.R131Q	.	421	659	441	1	0	443	0.251562	.	.	.	3452252	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.013	0.000941604155589	.	.	0.0003	0	0.0013	0	0	0.0002	0	0.0016	0.001921	50	26028	rs202246882	5.279e-05	6.294e-05	3.955e-05	6.616e-05	0.0003	4.287e-05	3.961e-05	0.0002	0.0002	0	0.0001	0	7.564e-05	0	0.0002	3.51e-05	6.642e-05	0.0003	0.0001	0.0002	0.0001	0.0001	0.0008	8.284e-05	6.82e-05	0.0005	0.0004	7.44e-05	0	0.0008	0	0	0	0	2.956e-05	0	0.0004	1.0	0.00964	T	1.0	0.03910	T	0.0	0.13644	B	0.0	0.04355	B	0.464890	0.04891	N	1.542390	1	0.08975	N	-2.565	0.00047	N	2.75	0.11622	T	2.25	0.00472	N	0.04	0.03069	-0.9519	0.40643	T	0.004	0.01295	T	10	0.015721977	0.00330	T	9.42E-4	0.00934	T	0.013	0.01715	.	.	0.174091166621	0.17034	0.021095889007445256	0.02062	1.71924122415	0.90548	.	.	.	.	.	.	-0.714436	0.00030	T	-0.905433	0.00465	T	0.0501607574657884	0.05529	T	.	.	.	.	.	.	.	.	.	.	.	-0.217	0.00435	T	.	.	0.065	0.06341	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.525354	0.01788	0.138	0.73410874544489724	0.10318	0.00030	0.00276	N	AEFDBI	0.021298	0.00932	N	-2.17374974192811	0.00088	0.003751786	-2.12833273597635	0.00161	0.007103925	2.59535722897861E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.94	0.07158	-1.595000	0.02196	.	.	-0.581000	0.04707	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4314:0.0:0.2508:0.3177	1.446	0.02221	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002345	0.000000	0.004167	0.011628	0.000000	0.000000	0.000000	0.004202	0.3571	9049.11	225	chr19	54805981	.	G	A	9049.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=3.89;DP=1535;ExcessHet=4.7409;FS=3.149;MLEAC=5;MLEAF=0.357;MQ=56.95;MQRankSum=-12.62;QD=6.89;ReadPosRankSum=0;SOR=0.996	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,2:11:57:0|1:54805940_TCTC_T:57,0,352:54805940	2	0	5	0
chr19	54806034	54806034	C	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C445A:p.Q149K,KIR2DL4:NM_001080772:exon4:c.C445A:p.Q149K	.	416	603	500	3	0	506	0.295561	.	.	.	2327274	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.000600995199084	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796139593	2.054e-06	2.189e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	6.586e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.015	0.52492	D	0.466	0.21545	T	0.028	0.19712	B	0.019	0.26717	B	0.218530	0.03437	U	2.191760	1	0.08975	N	1.17	0.29769	L	2.69	0.12268	T	-0.65	0.22944	N	0.106	0.13484	-1.0136	0.25784	T	0.041	0.17446	T	10	0.07830647	0.12465	T	6.01E-4	0.00274	T	0.027	0.05988	.	.	0.15499578495	0.15088	0.030426962936334883	0.02991	1.86795582778	0.92482	.	.	.	.	.	.	-0.327326	0.06316	T	-0.707957	0.05402	T	0.07779072841769	0.09702	T	.	.	.	.	.	.	.	.	.	.	.	-3.072	0.14113	T	.	.	0.095	0.16143	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.261443	0.00472	0.010	0.57104873323543892	0.05696	0.00143	0.00871	N	AEFDBI	0.036756	0.04948	N	-1.49293136850256	0.01900	0.08334951	-1.67917428157046	0.01232	0.05552245	1.96384650934533E-4	0.05898	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.04	-2.07	0.06873	-1.932000	0.01645	.	.	-5.196000	0.00013	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4754:0.2961:0.2285	4.213	0.09977	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	13581.1	274	chr19	54806034	.	C	A	13581.1	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.398;DP=2464;ExcessHet=4.7409;FS=0;MLEAC=5;MLEAF=0.357;MQ=56.72;MQRankSum=-13.3;QD=8.23;ReadPosRankSum=1.75;SOR=0.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,3:15:90:0|1:54806034_C_A:90,0,486:54806034	2	0	5	0
chr19	54806035	54806035	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A446G:p.Q149R,KIR2DL4:NM_001080772:exon4:c.A446G:p.Q149R	.	417	602	500	3	0	506	0.295906	.	.	.	2338656	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.005	0.000698231574451	.	.	0	0	0	0	0	0	0	0	.	.	.	rs746343340	2.328e-05	5.747e-05	1.226e-05	3.441e-05	0.0003	1.676e-05	1.479e-05	0.0003	0.0002	0	0	0	0	0	0	2.699e-06	1.658e-05	0.0003	1.998e-05	0.0002	0	4.097e-05	0.0006	5.31e-06	2.47e-06	0.0002	9.372e-05	0	0	0	0	0	0	0	0	0	0.0006	1.0	0.00964	T	0.716	0.08505	T	0.0	0.07471	B	0.002	0.19048	B	0.218530	0.03437	N	2.191760	1	0.08975	N	-0.41	0.02942	N	2.67	0.12473	T	0.01	0.11185	N	0.051	0.02861	-0.9819	0.34561	T	0.015	0.05849	T	10	0.022258013	0.00551	T	6.98E-4	0.00435	T	0.005	0.00259	.	.	0.20808081866	0.20439	0.018312308498273373	0.01785	1.62690945155	0.89163	.	.	.	.	.	.	-0.395299	0.02485	T	-0.805596	0.01766	T	0.0361073549231356	0.02999	T	.	.	.	.	.	.	.	.	.	.	.	-0.457	0.00626	T	.	.	0.059	0.01645	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.548845	0.01717	0.126	0.1435906815429033	0.00314	0.00175	0.01031	N	AEFDBI	0.030820	0.03175	N	-2.16967246651284	0.00090	0.003831711	-2.20712287736297	0.00108	0.004744652	1.07926449648836E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.76	0.07574	-0.066000	0.11556	.	.	-3.284000	0.00100	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7891:0.0:0.2109:0.0	6.415	0.20912	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.3571	13566.1	276	chr19	54806035	.	A	G	13566.1	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.83;DP=2458;ExcessHet=4.7409;FS=0;MLEAC=5;MLEAF=0.357;MQ=56.71;MQRankSum=-13.36;QD=8.19;ReadPosRankSum=1.88;SOR=0.64	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,3:15:90:0|1:54806034_C_A:90,0,486:54806034	2	0	5	0
chr19	54806051	54806051	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C462G:p.I154M,KIR2DL4:NM_001080772:exon4:c.C462G:p.I154M	.	413	617	488	4	0	496	0.286705	.	.	.	2309998	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.000542649328314	.	.	.	.	.	.	.	.	.	.	0.0009221	24	26028	rs112266387	6.846e-07	1.916e-05	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.643e-06	3.949e-05	0	1.361e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	0.265	0.28300	T	0.001	0.13644	B	0.005	0.26717	B	0.021564	0.01555	N	4.036070	1	0.08975	N	-1.185	0.00856	N	2.71	0.12055	T	0.58	0.03824	N	0.052	0.04913	-0.9508	0.40833	T	0.016	0.06329	T	10	0.01567614	0.00329	T	5.43E-4	0.00196	T	0.009	0.00846	.	.	0.158540857583	0.15491	0.022625134842526706	0.02214	1.56269628182	0.88057	.	.	.	.	.	.	-0.406495	0.02098	T	-0.821678	0.01419	T	0.0491104212058717	0.05343	T	.	.	.	.	.	.	.	.	.	.	.	-3.48	0.28982	T	.	.	0.069	0.06617	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.681431	0.00202	0.003	0.30573155537778873	0.01679	0.00033	0.00296	N	AEFDBI	0.022408	0.01117	N	-2.59438172759116	0.00009	0.0004174465	-2.64788836212231	0.00010	0.0004634108	0.947304446228941	0.27746	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-2.09	0.06831	-1.305000	0.02846	.	.	-0.638000	0.04459	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.4374:0.2279:0.3346	4.6	0.11740	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.3571	12878.1	281	chr19	54806051	.	C	G	12878.1	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.294;DP=2491;ExcessHet=4.7409;FS=1.314;MLEAC=5;MLEAF=0.357;MQ=56.99;MQRankSum=-13.36;QD=7.59;ReadPosRankSum=2.95;SOR=0.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,3:18:81:0|1:54806034_C_A:81,0,621:54806034	2	0	5	0
chr19	54806073	54806074	GA	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon4:c.484_485del:p.E162Sfs*3,KIR2DL4:NM_001080772:exon4:c.484_485del:p.E162Sfs*3	.	409	636	474	3	0	480	0.273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.63e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	11995.1	283	chr19	54806072	.	GGA	G	11995.1	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.041;DP=2515;ExcessHet=4.7409;FS=3.043;MLEAC=5;MLEAF=0.357;MQ=57.23;MQRankSum=-13.27;QD=6.97;ReadPosRankSum=1.83;SOR=0.842	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,3:21:72:0|1:54806034_C_A:72,0,747:54806034	2	0	5	0
chr19	54806075	54806075	-	GG	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon4:c.486_487insGG:p.A163Gfs*78,KIR2DL4:NM_001080772:exon4:c.486_487insGG:p.A163Gfs*83	.	415	630	474	3	0	480	0.275862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.633e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	11971.1	281	chr19	54806075	.	A	AGG	11971.1	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.193;DP=2508;ExcessHet=4.7409;FS=3.09;MLEAC=5;MLEAF=0.357;MQ=57.23;MQRankSum=-13.15;QD=6.98;ReadPosRankSum=1.46;SOR=0.896	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,3:21:72:0|1:54806034_C_A:72,0,747:54806034	2	0	5	0
chr19	54806086	54806086	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T497C:p.L166P,KIR2DL4:NM_001080772:exon4:c.T497C:p.L166P	.	417	638	464	3	0	470	0.269187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00126561986838	.	.	.	.	.	.	.	.	.	.	0.0108345	282	26028	rs112694450	2.054e-06	2.668e-05	1.362e-06	2.752e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.176	0.28772	T	0.247	0.31026	T	0.008	0.14655	B	0.01	0.16012	B	.	.	.	.	1	0.08975	N	0.96	0.23930	L	5.72	0.00726	T	-3.32	0.68764	D	0.048	0.08088	-0.8920	0.48758	T	0.002	0.00676	T	9	0.05647248	0.06334	T	0.001266	0.01708	T	0.084	0.24469	.	.	0.043077524339	0.03247	0.029543096631376373	0.02903	2.22587521974	0.95901	.	.	.	.	.	.	-0.333176	0.05874	T	-0.71636	0.04974	T	0.06923972269659	0.08545	T	.	.	.	.	.	.	.	.	.	.	.	-6.488	0.50992	T	.	.	0.125	0.36889	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.541643	0.01739	0.130	0.30546163533684245	0.01676	0.00084	0.00566	N	AEFDBI	0.040908	0.06150	N	-1.75954112441418	0.00652	0.02811985	-1.89857749402206	0.00493	0.0218348	4.00468085139758E-4	0.06820	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-1.46	0.08338	-4.522000	0.00254	.	.	-1.727000	0.00720	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2448:0.2837:0.2446:0.2269	0.244	0.00182	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	11759.1	287	chr19	54806086	.	T	C	11759.1	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.621;DP=2489;ExcessHet=4.7409;FS=5.174;MLEAC=5;MLEAF=0.357;MQ=57.31;MQRankSum=-13.31;QD=6.94;ReadPosRankSum=-0.946;SOR=1.055	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,2:20:30:0|1:54806034_C_A:30,0,750:54806034	2	0	5	0
chr19	54806109	54806109	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A520G:p.I174V,KIR2DL4:NM_001080772:exon4:c.A520G:p.I174V	.	416	679	424	3	0	430	0.240492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00150018900562	.	.	.	.	.	.	.	.	.	.	0.0017673	46	26028	rs200435373	4.107e-06	8.21e-06	4.086e-06	4.128e-06	8.986e-05	1.48e-06	9.7e-07	2.381e-05	1.26e-05	8.986e-05	4.474e-05	0	0	0	0	8.995e-07	0	0	3.982e-05	6.581e-05	5.185e-05	2.72e-05	9.852e-05	1.73e-05	1.139e-05	3.296e-05	1.946e-05	9.852e-05	0	0	0	0	0	0	2.95e-05	0	0	1.0	0.00964	T	0.716	0.08273	T	0.0	0.02946	B	0.0	0.04355	B	0.000015	0.00162	N	21.575300	1	0.08975	N	-1.765	0.00315	N	2.72	0.11947	T	0.4	0.04022	N	0.064	0.09349	-0.9697	0.37262	T	0.008	0.02968	T	9	0.026097596	0.00785	T	0.002	0.02318	T	0.047	0.12962	.	.	0.043077524339	0.03247	0.009202094420106284	0.00883	1.30891436969	0.83166	.	.	.	.	.	.	-0.448991	0.01145	T	-0.882721	0.00632	T	0.0586992040478046	0.06962	T	.	.	.	.	.	.	.	.	.	.	.	-0.517	0.02545	T	.	.	0.065	0.05360	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.275204	0.00054	0.001	0.16757461822379344	0.00462	0.00104	0.00666	N	AEFDBI	0.027275	0.02201	N	-2.5106296527513	0.00015	0.0006516505	-2.51493381181123	0.00021	0.0009431019	0.0431614665892215	0.14558	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.854	0.10163	-0.997000	0.03816	.	.	-2.920000	0.00157	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	10119.1	283	chr19	54806109	.	A	G	10119.1	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.304;DP=2406;ExcessHet=4.7409;FS=6.687;MLEAC=5;MLEAF=0.357;MQ=57.61;MQRankSum=-13.22;QD=6.28;ReadPosRankSum=-2.327;SOR=1.264	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,2:20:30:0|1:54806034_C_A:30,0,740:54806034	2	0	5	0
chr19	54855625	54855625	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A662T:p.Y221F,KIR3DL2:NM_006737:exon5:c.A662T:p.Y221F	.	417	757	348	0	0	348	0.186896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000464580640836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs953284565	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.973e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.297	0.22084	T	0.998	0.73220	D	0.957	0.69900	D	0.987012	0.08056	U	0.989616	1	0.08975	N	1.825	0.47900	L	5.76	0.00695	T	-2.9	0.60827	D	0.098	0.12770	-0.9144	0.46298	T	0.007	0.02518	T	10	0.1624504	0.30445	T	4.65E-4	0.00116	T	0.019	0.03383	0.518	0.61915	0.336892272479	0.33291	0.018868245159557127	0.01840	1.60845377238	0.88855	0.403694212437	0.25583	T	0.067962	0.33336	T	-0.305796	0.08124	T	-0.677031	0.07167	T	0.537836849689484	0.34024	D	.	.	.	0.19793491	0.41677	0.16741675	0.38624	0.19793491	0.41677	0.16741675	0.38624	-6.639	0.51350	T	.	.	0.148	0.32589	B	.;.	.;.	0.893731	0.12673	9.197	0.95973909104232413	0.28337	0.00299	0.01594	N	AEFBI	0.032299	0.03618	N	-0.732235372597301	0.15120	0.7592366	-0.957408281364291	0.10751	0.5435199	1.67992491567851E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	-0.254	0.12350	-0.950000	0.03999	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5937:0.4063:0.0:0.0	3.712	0.07954	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	6949.34	221	chr19	54855625	.	A	T	6949.34	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.929;DP=1073;ExcessHet=4.7409;FS=7.737;MLEAC=4;MLEAF=0.286;MQ=56.93;MQRankSum=-11.32;QD=7.22;ReadPosRankSum=1.77;SOR=0.66	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,1:14:3:0|1:54855608_TCTC_T:3,0,543:54855608	2	0	5	0
chr19	54866420	54866420	C	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon7:c.C1105G:p.Q369E,KIR3DL2:NM_006737:exon8:c.C1156G:p.Q386E	.	420	771	331	0	0	331	0.176722	0.0001	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000487258690266	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs973541788	6.841e-07	8.893e-06	0	1.375e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.08	0.01032	N	7.15	0.00440	T	1.42	0.00936	N	0.047	0.01911	-0.9881	0.33077	T	0.000	0.00114	T	9	0.028343678	0.00967	T	4.87E-4	0.00143	T	0.019	0.03383	0.432	0.48171	0.139678290688	0.13603	0.030255114197267258	0.02974	0.00231557063093	0.00198	0.46007502079	0.33320	T	0.001004	0.00540	T	-0.420253	0.01704	T	-0.841441	0.01077	T	0.0475666406958597	0.05065	T	.	.	.	0.048541624	0.08476	0.04803189	0.07048	0.048541624	0.08476	0.04803189	0.07048	-3.597	0.17813	T	.	.	0.049	0.00120	B	.;.	.;.	-0.208194	0.03048	0.471	0.46700175483676853	0.03761	0.00016	0.00195	N	AEFBI	0.016061	0.00339	N	-1.82336724726666	0.00490	0.02110744	-1.81317678004361	0.00718	0.0319862	2.83414617026636E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.05	-1.86	0.07340	0.363000	0.20037	.	.	-0.318000	0.05900	0.220000	0.24536	0.000000	0.08366	0.002000	0.04165	0.0:0.5951:0.4049:0.0	6.644	0.22116	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	8695.11	187	chr19	54866420	.	C	G	8695.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.678;DP=1033;ExcessHet=4.7409;FS=14.973;MLEAC=5;MLEAF=0.357;MQ=57.03;MQRankSum=-12.73;QD=9.02;ReadPosRankSum=1.25;SOR=0.344	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,3:11:99:0|1:54866416_T_C:102,0,327:54866416	2	0	5	0
chr19	56192982	56192982	C	T	exonic	ZSCAN5B	.	nonsynonymous SNV	ZSCAN5B:NM_001080456:exon2:c.G71A:p.R24Q,ZSCAN5B:NM_001385638:exon2:c.G71A:p.R24Q	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.000628404142964	0.0002	0.00159744	0.0007	0.0003	0.0005	0.0027	0	0.0004	0.0017	0.0012	0.0004786	74	154602	rs368732521	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0.0002	0	7.59e-05	1.884e-05	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0003	0.0003	0.0005	0	0.0001	0	0	0	0	0.0002	0	0.0006	0.623	0.05262	T	0.581	0.08505	T	0.005	0.12996	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.97	0.24054	L	3.41	0.05574	T	0.46	0.03140	N	0.042	0.01498	-0.9122	0.46582	T	0.011	0.04181	T	9	0.009268016	0.00209	T	6.28E-4	0.00319	T	0.013	0.01715	.	.	0.0884992946249	0.08302	0.10563149102873566	0.10493	0.0133202695898	0.01281	0.195449352264	0.00337	T	0.002958	0.02360	T	-0.637317	0.00086	T	-0.835165	0.01174	T	0.000831792072858661	0.00008	T	0.471053	0.14308	T	0.019918086	0.00534	0.030290134	0.01466	0.019918086	0.00534	0.030290134	0.01466	-3.213	0.12640	T	.	.	0.168	0.36966	B	.;.;.;.	.;.;.;.	-0.996213	0.00776	0.025	0.70732807401391606	0.09392	0.00154	0.00927	N	AEFBI	0.032604	0.03714	N	-1.72174310897404	0.00767	0.03314728	-1.85399979680722	0.00601	0.02670907	4.65474837995175E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.315538	0.05692	2	0.613276	0.41899	0	.	.	2.0	-4.01	0.03775	-3.313000	0.00572	.	.	-1.340000	0.01205	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2841:0.3396:0.3763:0.0	4.789	0.12609	922	0.19044	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	67.44	35	chr19	56192982	.	C	T	67.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.383;DP=228;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.86;ReadPosRankSum=0.674;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,2:4:78:0|1:56192972_C_A:78,0,78:56192972	6	0	1	0
chr19	56192989	56192989	T	G	exonic	ZSCAN5B	.	nonsynonymous SNV	ZSCAN5B:NM_001080456:exon2:c.A64C:p.T22P,ZSCAN5B:NM_001385638:exon2:c.A64C:p.T22P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.000615645786156	.	.	2.693e-05	0	0	0	0	5.272e-05	0	0	3.84e-05	1	26028	rs765870687	2.131e-05	5.062e-05	2.597e-05	1.66e-05	0.0001	1.528e-05	1.331e-05	5.909e-05	4.02e-05	0	0.0001	0	0	0	0	2.077e-05	1.663e-05	1.17e-05	3.29e-05	4.598e-05	2.573e-05	4.041e-05	6.558e-05	1.262e-05	7.99e-06	1.973e-05	1.125e-05	0	0	6.558e-05	0	0	0	0	5.884e-05	0	0	0.132	0.26519	T	0.257	0.23231	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.57	0.02306	N	3.42	0.05507	T	0.22	0.04694	N	0.04	0.01911	-0.9249	0.44872	T	0.008	0.02842	T	9	0.047068626	0.03978	T	6.16E-4	0.00289	T	0.017	0.02790	0.125	0.03095	0.0401082797425	0.02173	0.16285928319066495	0.16205	0.0132716735752	0.01276	0.25662946701	0.04497	T	0.001149	0.00651	T	-0.508525	0.00512	T	-0.788554	0.02204	T	0.024951337964339	0.01266	T	0.30177	0.06128	T	0.05168169	0.09526	0.04529222	0.06063	0.05168169	0.09525	0.04529222	0.06063	-2.74	0.07645	T	.	.	0.165	0.38516	B	.;.;.;.	.;.;.;.	-0.325663	0.02506	0.296	0.34067678889158082	0.02064	0.00030	0.00276	N	AEFBI	0.011306	0.00097	N	-1.50687003007531	0.01804	0.07907242	-1.55186892497863	0.01963	0.08963716	1.68474210865508E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.315538	0.05692	2	0.613276	0.41899	0	.	.	2.0	-0.456	0.11581	-0.565000	0.06020	.	.	-1.510000	0.01017	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1808:0.0:0.529:0.2902	2.592	0.04552	922	0.19044	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	67.44	35	chr19	56192989	.	T	G	67.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.383;DP=228;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.86;ReadPosRankSum=-0.674;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,2:4:78:0|1:56192972_C_A:78,0,78:56192972	6	0	1	0
chr19	56192990	56192990	G	C	exonic	ZSCAN5B	.	nonsynonymous SNV	ZSCAN5B:NM_001080456:exon2:c.C63G:p.D21E,ZSCAN5B:NM_001385638:exon2:c.C63G:p.D21E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.000515168667146	.	.	2.734e-05	0	0	0	0	5.37e-05	0	0	3.84e-05	1	26028	rs753351356	2.27e-05	4.788e-05	2.597e-05	1.939e-05	0.0001	1.619e-05	1.424e-05	5.916e-05	4.025e-05	0	0.0001	0	0	0	0	2.258e-05	1.663e-05	1.171e-05	4.601e-05	5.911e-05	5.139e-05	4.037e-05	8.82e-05	2.11e-05	1.527e-05	3.762e-05	2.575e-05	0	0	6.544e-05	0	0	0	0	8.82e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.035	0.00180	N	3.58	0.04594	T	0.82	0.01813	N	0.009	0.00081	-0.9745	0.36235	T	0.004	0.01159	T	9	0.030825317	0.01212	T	5.15E-4	0.00163	T	0.010	0.01040	0.107	0.01868	0.0806252709748	0.07271	0.07052811889624717	0.06989	0.0129316536447	0.01244	0.263431340456	0.05306	T	8.52E-4	0.00427	T	-0.434676	0.01390	T	-0.862158	0.00820	T	0.0441346351977518	0.04444	T	0.325967	0.06723	T	0.025773967	0.01554	0.028616436	0.01115	0.025773967	0.01554	0.028616436	0.01115	-2.221	0.04143	T	.	.	0.302	0.53127	B	.;.;.;.	.;.;.;.	-0.634596	0.01480	0.092	0.13449365860153878	0.00266	0.00017	0.00201	N	AEFBI	0.015687	0.00312	N	-1.91986226986794	0.00313	0.01342251	-1.95496022755284	0.00380	0.01678341	8.42015593050589E-5	0.04703	0.487112	0.14033	0	0.573888	0.26702	0	0.315538	0.05692	2	0.613276	0.41899	0	.	.	2.0	-4.01	0.03775	-0.003000	0.12836	.	.	-0.374000	0.05429	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1607:0.2454:0.4658:0.1281	2.899	0.05349	922	0.19044	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	67.44	35	chr19	56192990	.	G	C	67.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.383;DP=228;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.86;ReadPosRankSum=-0.674;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,2:4:78:0|1:56192972_C_A:78,0,78:56192972	6	0	1	0
chr19	56815482	56815482	T	C	exonic	PEG3	.	nonsynonymous SNV	PEG3:NM_001369735:exon8:c.A2495G:p.H832R,PEG3:NM_001369736:exon8:c.A2495G:p.H832R,PEG3:NM_001146184:exon9:c.A2960G:p.H987R,PEG3:NM_001146185:exon9:c.A2582G:p.H861R,PEG3:NM_001146187:exon9:c.A2588G:p.H863R,PEG3:NM_001369717:exon9:c.A2966G:p.H989R,PEG3:NM_001369719:exon9:c.A2873G:p.H958R,PEG3:NM_001369721:exon9:c.A2588G:p.H863R,PEG3:NM_001369725:exon9:c.A2588G:p.H863R,PEG3:NM_001369733:exon9:c.A2588G:p.H863R,PEG3:NM_001369734:exon9:c.A2495G:p.H832R,PEG3:NM_001369737:exon9:c.A2495G:p.H832R,PEG3:NM_001369718:exon10:c.A2966G:p.H989R,PEG3:NM_001369722:exon10:c.A2588G:p.H863R,PEG3:NM_001369727:exon10:c.A2588G:p.H863R,PEG3:NM_001369729:exon10:c.A2588G:p.H863R,PEG3:NM_001369730:exon10:c.A2588G:p.H863R,PEG3:NM_001369732:exon10:c.A2588G:p.H863R,PEG3:NM_001369738:exon10:c.A2495G:p.H832R,PEG3:NM_001369739:exon10:c.A2588G:p.H863R,PEG3:NM_006210:exon10:c.A2960G:p.H987R,PEG3:NM_001369723:exon11:c.A2588G:p.H863R,PEG3:NM_001369726:exon11:c.A2588G:p.H863R,PEG3:NM_001369728:exon11:c.A2588G:p.H863R,PEG3:NM_001369731:exon11:c.A2588G:p.H863R,PEG3:NM_001369720:exon12:c.A2588G:p.H863R,PEG3:NM_001369724:exon12:c.A2588G:p.H863R	.	434	1077	11	0	0	11	0.00508083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.904	0.047495656025	0.0003	0.000599042	0.0005	0	0.0004	0.0001	0	0.0003	0	0.0018	0.0003881	60	154602	rs149044578	0.0004	0.0004	0.0003	0.0004	0.0021	0.0003	0.0003	0.0015	0.0014	5.974e-05	0.0004	0.0011	0	1.872e-05	0.0021	0.0002	0.0006	0.0017	0.0002	0.0002	0.0002	0.0003	0.0015	0.0002	0.0002	0.0007	0.0005	0	0	0.0002	0.0017	0	9.422e-05	0	0.0002	0.0009	0.0015	0.002	0.72154	D	0.005	0.72224	D	0.993	0.65571	D	0.867	0.61644	P	0.008410	0.30856	N	0.157460	.	.	.	3.17	0.88688	M	-10.2	0.99973	D	-6.77	0.92782	D	0.393	0.43417	0.706	0.93246	D	0.999	0.99966	D	9	0.44560167	0.58376	T	0.047496	0.62947	D	0.904	0.97361	.	.	0.966840758934	0.96648	.	.	0.341851203448	0.36127	0.595650911331	0.52290	T	0.747635	0.93059	D	0.172614	0.71364	D	0.445092	0.93457	D	0.138966247814793	0.16185	T	0.778722	0.41238	T	0.7036037	0.78254	0.6413757	0.79046	0.7036037	0.78256	0.6413757	0.79047	-8.341	0.63371	D	.	.	0.719	0.78304	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.780115	0.54344	23.5	0.99767650122533635	0.85583	0.91446	0.53550	D	AEFBCI	0.587951	0.58541	D	0.599863839666933	0.73167	5.922005	0.537725121636154	0.70548	5.521384	0.999997548459637	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.55	4.55	0.55429	4.461000	0.59851	.	.	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	12.161	0.53408	976	0.04745	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;.;.;.;.;.;.;.;.;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	142.44	87	chr19	56815482	.	T	C	142.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.792;DP=290;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.35;ReadPosRankSum=-1.465;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,6:7:19:153,0,19	6	0	1	0
chr19	57979880	57979880	T	C	exonic	ZNF606	.	nonsynonymous SNV	ZNF606:NM_001348023:exon6:c.A530G:p.D177G,ZNF606:NM_001348024:exon6:c.A530G:p.D177G,ZNF606:NM_001348022:exon7:c.A800G:p.D267G,ZNF606:NM_001348025:exon7:c.A326G:p.D109G,ZNF606:NM_025027:exon7:c.A800G:p.D267G	.	437	1082	3	0	0	3	0.0013844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	.	.	0.00459265	0.0031	0	0.0003	0	0	3.002e-05	0.0055	0.0224	0.0027296	422	154602	rs199550422	0.0014	0.0014	0.0008	0.0020	0.0216	0.0014	0.0014	0.0208	0.0205	5.974e-05	4.472e-05	0	0	0	0.0009	9.622e-05	0.0018	0.0216	0.0008	0.0008	0.0005	0.0011	0.0232	0.0006	0.0006	0.0197	0.0184	0	0	0.0001	0	0	0	0	1.47e-05	0	0.0232	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.557282	0.11373	N	0.742703	0.999788	0.20372	N	0.07	0.08264	N	3.4	0.05642	T	-0.04	0.07590	N	0.164	0.17278	-0.9372	0.43057	T	0.009	0.03271	T	10	0.003860861	0.00073	T	.	.	.	0.099	0.28413	0.627	0.76254	0.195762928549	0.19159	0.2752809683504997	0.27441	0.246347160271	0.27172	0.324503034353	0.14103	T	0.008994	0.08221	T	-0.573803	0.00210	T	-0.580085	0.14538	T	0.0105039502715826	0.00145	T	0.345165	0.29138	T	0.081279464	0.18668	0.09399156	0.22228	0.081279464	0.18668	0.09399156	0.22227	-0.143	0.00403	T	.	.	0.077	0.48634	B	.;.	.;.	0.660940	0.10293	7.026	0.09460829552142927	0.00097	0.27693	0.23348	N	AEFDBCI	0.061600	0.11787	N	-0.957729353659473	0.09520	0.4509311	-0.843582112668722	0.13442	0.6973206	8.07134809405697E-4	0.07842	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.19	3.14	0.35196	0.338000	0.19599	.	.	0.665000	0.62972	0.000000	0.06391	0.001000	0.17328	0.624000	0.32000	0.0:0.2317:0.0:0.7683	6.355	0.20602	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.07143	108.44	38	chr19	57979880	.	T	C	108.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=229;ExcessHet=0;FS=3.979;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21.69;ReadPosRankSum=1.28;SOR=1.447	GT:AD:DP:GQ:PL	0/1:1,4:5:26:119,0,26	6	0	1	0
chr20	2340448	2340448	G	A	exonic	TGM3	.	nonsynonymous SNV	TGM3:NM_003245:exon13:c.G1949A:p.G650E	.	.	.	.	.	.	.	.	.	.	.	728570	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.100	.	0.0105	0.00998403	0.0027	0.0301	0.0008	0	0	3.004e-05	0.0022	0.0002	0.0026196	405	154602	rs114998364	0.0008	0.0008	0.0009	0.0007	0.0284	0.0007	0.0007	0.0269	0.0263	0.0284	0.0011	0	2.519e-05	0	0.0016	1.889e-05	0.0017	0.0001	0.0082	0.0082	0.0084	0.0080	0.0283	0.0078	0.0076	0.0270	0.0264	0.0283	0	0.0032	0	0	0	0.0034	4.411e-05	0.0066	0	0.844	0.02782	T	0.641	0.06948	T	0.001	0.07471	B	0.001	0.04355	B	0.101564	0.19833	N	0.526693	0.999933	0.19363	N	-0.245	0.03879	N	-0.16	0.65378	T	2.62	0.00206	N	0.059	0.03069	-1.0702	0.09370	T	0.019	0.08033	T	10	0.0034491122	0.00061	T	.	.	.	0.100	0.28662	.	.	0.504541157375	0.50091	0.42657059956302307	0.42574	0.115804812522	0.13064	0.349083721638	0.17788	T	0.048953	0.28165	T	-0.60318	0.00140	T	-0.616891	0.11431	T	0.00321796127623385	0.00034	T	0.040496	0.00282	T	0.14094916	0.32499	0.108201556	0.26060	0.203429	0.42420	0.11596556	0.27994	-3.936	0.22843	T	.	.	0.104	0.18910	B	.	.	0.784901	0.11551	8.146	0.76941293602123317	0.11671	0.13561	0.17926	N	AEFDBHCI	0.138911	0.26034	N	-0.976914747359522	0.09099	0.4292231	-0.856347705191023	0.13135	0.6797408	0.0146580962274902	0.12622	0.533608	0.22052	0	0.615948	0.52940	0	0.685742	0.62368	0	0.542086	0.14980	0	.	.	4.68	3.74	0.42108	0.463000	0.21683	2.136000	0.30812	0.671000	0.69459	0.001000	0.13787	0.461000	0.25002	0.381000	0.26357	0.1016:0.0:0.8984:0.0	8.871	0.34474	929	0.16858	Transglutaminase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	111.44	34	chr20	2340448	.	G	A	111.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.383;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.57;ReadPosRankSum=1.38;SOR=0.707	GT:AD:DP:GQ:PL	0/1:1,5:6:24:122,0,24	6	0	1	0
chr20	2403590	2403590	G	A	exonic	TGM6	.	nonsynonymous SNV	TGM6:NM_001254734:exon9:c.G1103A:p.R368Q,TGM6:NM_198994:exon9:c.G1103A:p.R368Q	Spinocerebellar ataxia 35, Autosomal dominant	1	1517	3	1	0	5	0.00164528	.	.	.	349758	not_provided|not_specified|Spinocerebellar_ataxia_type_35	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013485,MedGen:C3888031,OMIM:613908,Orphanet:276193	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.206	.	0.0075	0.0133786	0.0032	0.0239	0.0017	0.0115	0	8.997e-05	0	0.0007	0.003163	489	154602	rs75122556	0.0009	0.0009	0.0010	0.0009	0.0222	0.0009	0.0009	0.0209	0.0203	0.0222	0.0019	0	0.0076	0	0.0007	5.665e-05	0.0022	0.0006	0.0070	0.0071	0.0071	0.0070	0.0229	0.0067	0.0066	0.0217	0.0212	0.0229	0	0.0024	0	0.0104	0	0	0.0001	0.0071	0.0008	0.398	0.11659	T	0.353	0.17320	T	0.022	0.21002	B	0.003	0.11217	B	0.001770	0.38052	N	0.270437	0.756463	0.29584	N	0.26	0.09897	N	-3.73	0.95458	D	0.49	0.02993	N	0.093	0.07811	-0.4446	0.70578	T	0.318	0.68761	T	10	0.0069358647	0.00158	T	.	.	.	0.206	0.49396	.	.	0.221734844693	0.21761	0.2327023895196038	0.23185	0.0953522573917	0.10770	0.201009258628	0.00487	T	0.005347	0.04800	T	-0.398353	0.02374	T	-0.32673	0.41832	T	0.00711481055121195	0.00081	T	0.664534	0.28129	T	0.028691167	0.02245	0.03600445	0.02962	0.04179724	0.06221	0.030356066	0.01481	-3.811	0.22993	T	0.06575249398404066	0.02192	0.064	0.01715	B	.;.	.;.	1.269257	0.16678	12.69	0.96299483521206242	0.29341	0.85433	0.44565	D	AEFDBI	0.330806	0.43073	N	-0.899479740012878	0.10854	0.5208024	-0.773329834243252	0.15150	0.7953485	1.27180578105009E-4	0.05386	0.487112	0.14033	0	0.573888	0.26702	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	4.9	-1.07	0.09459	0.987000	0.29203	0.744000	0.21184	-0.186000	0.09761	0.994000	0.38300	0.993000	0.31925	0.243000	0.23080	0.4689:0.0:0.5311:0.0	9.761	0.39697	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	1	0	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.003788	0.07143	67.44	34	chr20	2403590	.	G	A	67.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.319;DP=232;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.86;ReadPosRankSum=0.674;SOR=0.916	GT:AD:DP:GQ:PL	0/1:1,3:4:28:78,0,28	6	0	1	0
chr20	2403613	2403613	G	A	exonic	TGM6	.	nonsynonymous SNV	TGM6:NM_001254734:exon9:c.G1126A:p.A376T,TGM6:NM_198994:exon9:c.G1126A:p.A376T	Spinocerebellar ataxia 35, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	.	344791	not_specified|Spinocerebellar_ataxia_type_35|not_provided	MedGen:CN169374|MONDO:MONDO:0013485,MedGen:C3888031,OMIM:613908,Orphanet:276193|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.813	.	0.0074	0.0113818	0.0022	0.0237	0.0016	0	0	0.0001	0	0	0.0023156	358	154602	rs79724097	0.0007	0.0007	0.0008	0.0007	0.0223	0.0007	0.0007	0.0209	0.0204	0.0223	0.0019	0	5.038e-05	0	0.0003	0.0001	0.0017	0.0001	0.0067	0.0067	0.0067	0.0066	0.0230	0.0063	0.0062	0.0218	0.0213	0.0230	0	0.0023	0	0	0	0	0.0002	0.0071	0.0002	0.002	0.78490	D	0.003	0.76473	D	0.998	0.73220	D	0.759	0.65636	P	0.000000	0.84330	D	0.000000	0.999989	0.54805	D	3.885	0.96017	H	-4.14	0.96772	D	-3.61	0.69477	D	0.828	0.82660	0.574	0.91561	D	0.864	0.95462	D	10	0.01764837	0.00378	T	.	.	.	0.813	0.93969	.	.	0.565096191312	0.56172	0.5627432429458633	0.56201	0.384607151373	0.39759	0.590253710747	0.51530	T	0.383502	0.74534	T	-0.112528	0.34352	T	0.0838379	0.75834	D	0.0626543107975023	0.07580	T	0.727427	0.34191	T	0.5669051	0.70890	0.5346674	0.73111	0.5421629	0.69518	0.53069574	0.72884	-11.25	0.81011	D	0.8082521512885468	0.88371	0.784	0.76551	P	.;.	.;.	4.811250	0.78275	26.9	0.99895662336143853	0.96895	0.99297	0.94124	D	AEFDBI	0.906753	0.85992	D	0.80202748487899	0.86232	8.819951	0.686618659428538	0.81363	7.508883	0.999998448629931	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	4.9	4.9	0.63643	9.999000	0.99362	9.891000	0.82274	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.021000	0.11733	0.0:0.0:1.0:0.0	16.019	0.80264	816	0.41767	.;.	.	.	.	.	.	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	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.003788	0.07143	64.44	34	chr20	2403613	.	G	A	64.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.036;DP=233;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=1.65;SOR=1.179	GT:AD:DP:GQ:PL	0/1:2,3:5:61:75,0,61	6	0	1	0
chr20	3752147	3752147	T	C	exonic	HSPA12B	.	nonsynonymous SNV	HSPA12B:NM_001318322:exon12:c.T1784C:p.I595T,HSPA12B:NM_001197327:exon13:c.T2039C:p.I680T,HSPA12B:NM_052970:exon13:c.T2042C:p.I681T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.558	0.145545449426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.296e-06	2.736e-06	1.496e-06	3.135e-06	2.872e-06	6.1e-07	1.7e-07	7.7e-07	2.1e-07	0	0	0	0	0	0	2.872e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.61	0.76335	M	1.32	0.50721	T	-3.68	0.70674	D	0.878	0.87917	-0.5952	0.65012	T	0.263	0.63372	T	10	0.88441616	0.87763	D	0.145545	0.82773	D	0.558	0.81831	0.772	0.89846	0.826316784904	0.82467	0.8306387228874841	0.83022	2.01999695743	0.93996	0.724379897118	0.70686	T	0.200235	0.55776	T	0.285259	0.81761	D	0.171978	0.81526	D	0.995428522012175	0.87398	D	0.976502	0.91818	D	0.57211274	0.71176	0.49937007	0.71055	0.57211274	0.71178	0.49937007	0.71056	-12.225	0.85930	D	.	.	0.948	0.87578	P	.;.	.;.	4.982410	0.82536	27.8	0.99758199885016519	0.84851	0.95654	0.65592	D	AEFDBHCIJ	0.920692	0.89306	D	0.700704685378741	0.79678	7.128751	0.686458282789235	0.81351	7.506103	0.999999999993154	0.74766	0.646311	0.45356	0	0.552344	0.17405	0	0.64067	0.45733	0	0.699875	0.68795	0	.	.	5.37	5.37	0.76949	7.270000	0.77886	7.846000	0.70742	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	13.323	0.59883	789	0.46346	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	41	chr20	3752147	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=257;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr20	20090941	20090941	G	A	exonic	CFAP61	.	nonsynonymous SNV	CFAP61:NM_001167816:exon6:c.G664A:p.A222T,CFAP61:NM_015585:exon7:c.G664A:p.A222T	.	422	1096	3	1	0	5	0.00227583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.013518105666	0.0002	.	0.0003	0	0.0002	0	0	0.0005	0.0011	0	0.0002393	37	154602	rs146792381	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	5.974e-05	0.0004	0	0	1.872e-05	0.0002	0.0002	0.0001	1.159e-05	0.0001	0.0001	0.0001	0.0002	0.0003	9.153e-05	7.707e-05	0.0002	0.0001	0	0	0.0002	0	0	0	0	0.0003	0	0	0.011	0.55530	D	0.175	0.44702	T	0.981	0.90584	D	0.814	0.88582	P	0.000647	0.42656	D	0.201482	0.822055	0.81001	D	.	.	.	0.82	0.48142	T	-2.52	0.58407	D	0.543	0.57006	-0.8776	0.49950	T	0.218	0.58059	T	10	0.1480622	0.28044	T	0.013518	0.32986	T	0.259	0.57090	.	.	0.53689752714	0.53341	0.4230813361638134	0.42225	0.357954956601	0.37510	.	.	.	0.057215	0.30503	T	-0.26995	0.11763	T	-0.293477	0.45411	T	0.308653205633163	0.25359	T	0.863414	0.55914	D	0.15955321	0.35835	0.1865814	0.41839	0.15955321	0.35835	0.1865814	0.41838	-11.228	0.80893	D	.	.	0.500	0.64563	A	.;.;.;.;.	.;.;.;.;.	4.167386	0.62634	24.5	0.99911172037449902	0.98022	0.82182	0.41449	D	AEFI	0.282084	0.39551	N	0.47783090523906	0.65799	4.868009	0.504099662640909	0.68267	5.196353	0.00261539642922808	0.09575	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.73	4.72	0.59248	2.063000	0.41049	9.797000	0.81675	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.997000	0.79791	0.0:0.1168:0.6585:0.2247	11.449	0.49385	844	0.36711	Cilia- and flagella-associated protein 61, N-terminal domain;.;Cilia- and flagella-associated protein 61, N-terminal domain;.;Cilia- and flagella-associated protein 61, 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	.	.	.	.	.	.	.	.	0.07143	50.44	40	chr20	20090941	.	G	A	50.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.21;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.04;ReadPosRankSum=-0.648;SOR=1.061	GT:AD:DP:GQ:PL	0/1:7,3:10:61:61,0,194	6	0	1	0
chr20	21396175	21396175	-	GGC	exonic	NKX2-4	.	nonframeshift insertion	NKX2-4:NM_033176:exon2:c.800_801insGCC:p.P270_S271insP	.	5	1514	2	0	1	3	0.000660066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0	0	0	0	0.0009	0.0075	0.0014	0.0002305	6	26028	rs758509573	0.0001	0.0001	0.0001	0.0002	0.0025	0.0001	0.0001	0.0014	0.0010	3.69e-05	7.714e-05	0.0009	0	0	0.0025	3.77e-05	0.0004	0.0013	9.224e-05	9.194e-05	6.445e-05	0.0001	0.0004	5.542e-05	4.376e-05	7.307e-05	3.346e-05	0	0	0.0001	0.0009	0	0	0	0.0001	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002092	0.000000	0.002899	0.000000	0.000000	0.000000	0.003205	0.000000	0.07143	109.4	35	chr20	21396175	.	A	AGGC	109.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.842;DP=232;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21.88;ReadPosRankSum=0.524;SOR=0.223	GT:AD:DP:GQ:PL	0/1:2,3:5:75:120,0,75	6	0	1	0
chr20	33401515	33401515	T	C	exonic	CDK5RAP1	.	nonsynonymous SNV	CDK5RAP1:NM_001278169:exon1:c.A44G:p.Y15C,CDK5RAP1:NM_016082:exon1:c.A44G:p.Y15C	.	522	998	2	0	0	2	0.001001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs959306463	3.601e-05	2.326e-05	4.238e-05	2.86e-05	0.0006	2.554e-05	2.216e-05	2.426e-05	2.131e-05	0	0	0	0	0	0.0006	3.544e-05	3.666e-05	6.075e-05	3.287e-05	3.285e-05	3.856e-05	2.691e-05	7.351e-05	1.261e-05	7.98e-06	2.847e-05	1.858e-05	0	0	0	0	0	0	0	7.351e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	99.44	34	chr20	33401515	.	T	C	99.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.674;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=24.86;ReadPosRankSum=-0.319;SOR=0.446	GT:AD:DP:GQ:PL	0/1:1,3:4:28:110,0,28	6	0	1	0
chr20	33644447	33644447	A	G	exonic	CBFA2T2	.	nonsynonymous SNV	CBFA2T2:NM_001032999:exon11:c.A1589G:p.H530R,CBFA2T2:NM_001039709:exon11:c.A1529G:p.H510R,CBFA2T2:NM_005093:exon12:c.A1616G:p.H539R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.807	0.164134168709	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.994	0.82059	D	0.000000	0.84330	N	0.046970	1	0.81001	D	4.63	0.99327	H	-0.36	0.72237	T	-6.07	0.95842	D	0.924	0.92784	0.794	0.94334	D	0.720	0.90404	D	10	0.96906936	0.96457	D	0.164134	0.84331	D	0.807	0.93738	0.891	0.97367	0.914352520461	0.91349	0.99814086903435	0.99813	1.75705472658	0.91076	0.805450201035	0.82794	D	0.905177	0.98171	D	0.421591	0.91103	D	0.36781	0.90992	D	0.998588860034943	0.94563	D	0.99733	0.98937	D	0.8538876	0.87624	0.83444434	0.90475	0.8538876	0.87625	0.83444434	0.90475	-12.6	0.88002	D	.	.	0.998	0.98268	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.600193	0.72850	25.9	0.99829351414855927	0.91112	0.97810	0.77299	D	AEFBCI	0.881199	0.80839	D	1.10972112974363	0.98310	17.93698	1.01630609287347	0.98919	19.87713	0.999999917686378	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.88	5.88	0.94564	9.325000	0.96006	11.149000	0.87296	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.301	0.82641	103	0.95740	.;Zinc finger, MYND-type|Zinc finger, MYND-type|Zinc finger, MYND-type;Zinc finger, MYND-type|Zinc finger, MYND-type|Zinc finger, MYND-type;.;.;.;Zinc finger, MYND-type|Zinc finger, MYND-type|Zinc finger, MYND-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr20	33644447	.	A	G	33.22	.	AC=2;AF=0.143;AN=14;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr20	36198013	36198013	C	G	exonic	EPB41L1	.	nonsynonymous SNV	EPB41L1:NM_001258331:exon13:c.C1418G:p.P473R,EPB41L1:NM_177996:exon13:c.C1418G:p.P473R,EPB41L1:NM_001258330:exon14:c.C1511G:p.P504R,EPB41L1:NM_012156:exon14:c.C1640G:p.P547R,EPB41L1:NM_001258329:exon15:c.C1640G:p.P547R	.	3	1492	25	2	0	29	0.00962496	.	.	.	134443	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.164	.	0.0062	0.00599042	0.0083	0.0021	0.0026	0	0.0050	0.0092	0.0023	0.0179	0.0077231	1194	154602	rs6089016	0.0070	0.0070	0.0067	0.0073	0.0170	0.0069	0.0068	0.0162	0.0160	0.0011	0.0025	0.0053	2.519e-05	0.0059	0.0080	0.0069	0.0062	0.0170	0.0052	0.0052	0.0053	0.0049	0.0164	0.0049	0.0047	0.0135	0.0124	0.0014	0	0.0050	0.0052	0	0.0048	0.0034	0.0071	0.0076	0.0164	0.018	0.61437	D	0.03	0.54159	D	0.009	0.67487	B	0.008	0.68059	B	0.000049	0.53742	N	0.193004	0.999995	0.58761	D	0.695	0.17993	N	-1.95	0.85613	D	-2.3	0.58407	N	0.468	0.65501	-0.0703	0.80774	T	0.516	0.81898	D	10	0.005582273	0.00123	T	.	.	.	0.414	0.72479	.	.	0.577202177789	0.57390	0.41474725758799835	0.41390	0.826141838325	0.67412	0.681493759155	0.64483	T	0.468462	0.80238	T	-0.229641	0.16695	T	-0.0883602	0.64286	T	0.0296726304998751	0.01939	T	0.961004	0.88660	D	0.15671715	0.35351	0.13630909	0.32611	0.16008583	0.35926	0.175177	0.39965	-9.304	0.73244	D	0.2840188812731129	0.37976	0.389	0.62801	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.910477	0.57021	23.8	0.99599050687473634	0.74101	0.99295	0.94095	D	AEFDBI	0.928332	0.91238	D	0.0591614778270958	0.44565	2.72824	0.155281261005179	0.47422	2.972692	0.999974069287737	0.50053	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	5.15	5.15	0.70287	7.426000	0.79456	7.668000	0.64620	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.361000	0.25909	0.0:1.0:0.0:0.0	17.620	0.87979	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	0.013185	0.010101	0.012228	0.011765	0.050000	0.000000	0.012270	0.011538	0.07143	198.44	34	chr20	36198013	.	C	G	198.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.59;DP=252;ExcessHet=0;FS=1.674;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.63;ReadPosRankSum=-0.536;SOR=0.715	GT:AD:DP:GQ:PL	0/1:14,9:23:99:209,0,309	6	0	1	0
chr20	56497036	56497036	T	-	exonic	GCNT7	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	46.4	35	chr20	56497035	.	CT	C	46.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.619;DP=295;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.8;ReadPosRankSum=0.921;SOR=0.307	GT:AD:DP:GQ:PL	0/1:6,2:8:57:57,0,218	6	0	1	0
chr21	13610565	13610565	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.G337A:p.G113S	.	444	172	461	445	0	1351	0.79705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00277741158105	.	.	.	.	.	.	.	.	.	.	0.033169	5128	154602	rs6517869	1.401e-05	6.993e-05	3.992e-06	2.407e-05	6.081e-05	8.13e-06	6.36e-06	1.007e-05	3.77e-06	0	6.081e-05	0	0	5.033e-05	0	8.892e-06	2.573e-05	3.286e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.153	0.24372	T	0.043	0.49942	D	1.0	0.90584	D	0.937	0.67262	D	.	.	.	.	1	0.08975	N	1.15	0.29295	L	1.66	0.27486	T	-1.24	0.31375	N	0.08	0.05542	-0.9968	0.30810	T	0.095	0.35818	T	8	0.068237185	0.09622	T	0.002777	0.05781	T	0.029	0.06676	0.202	0.11659	0.0934897674506	0.08844	0.04415967261073172	0.04359	.	.	0.431079089642	0.29356	T	0.012796	0.11182	T	-0.31698	0.07148	T	-0.693096	0.06212	T	0.036694748014754	0.03102	T	0.636336	0.25008	T	0.046982475	0.07955	0.08034204	0.18165	0.046982475	0.07954	0.08034204	0.18164	-7.591	0.58248	D	.	.	0.092	0.21163	B	.;.	.;.	1.490668	0.19177	14.13	0.9114633486319289	0.20400	0.00123	0.00769	N	AEFI	0.021764	0.01007	N	-0.750059816202474	0.14632	0.7304896	-1.05968458506513	0.08505	0.4185625	1.33632449358699E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.418	-0.732	0.10585	-1.777000	0.01877	.	.	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.6429	21872.1	176	chr21	13610565	.	G	A	21872.1	.	AC=9;AF=0.643;AN=14;BaseQRankSum=2.87;DP=1134;ExcessHet=0.4813;FS=0;MLEAC=9;MLEAF=0.643;MQ=53.69;MQRankSum=-9.205;QD=20.58;ReadPosRankSum=0.352;SOR=0.683	GT:AD:DP:GQ:PL	0/1:1,4:5:26:84,0,26	1	3	3	0
chr21	13610631	13610631	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A403G:p.I135V	.	439	188	453	442	0	1337	0.780502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00179256116657	.	.	.	.	.	.	.	.	.	.	0.175004	4555	26028	rs6517870	0.0002	0.0006	0.0002	0.0002	0.0010	0.0002	0.0002	0.0007	0.0006	0	0.0010	0	0	0.0019	0	0.0001	7.755e-05	3.326e-05	0.0002	0.0008	0.0001	0.0003	0.0011	0.0001	0.0001	0.0006	0.0005	0	0	0.0011	0	0	0.0004	0	8.695e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	0.955	0.23872	L	0.69	0.51714	T	0.21	0.04776	N	0.013	0.00142	-1.0463	0.15447	T	0.001	0.00408	T	8	0.01186794	0.00257	T	0.001793	0.03063	T	0.027	0.05988	.	.	0.043077524339	0.03247	0.057245171207421994	0.05665	.	.	0.60823392868	0.54066	T	0.003659	0.03070	T	-0.325257	0.06477	T	-0.704986	0.05557	T	0.0231726184936854	0.01044	T	0.405359	0.11777	T	0.018582096	0.00380	0.026746769	0.00781	0.018582096	0.00379	0.026746769	0.00780	-2.614	0.06610	T	.	.	0.071	0.06571	B	.;.	.;.	-1.090417	0.00652	0.018	0.18791234627756773	0.00606	0.00044	0.00357	N	AEFI	0.015589	0.00305	N	-2.40962434727351	0.00026	0.001112248	-2.38906535767928	0.00042	0.001829696	4.90101459551143E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.29	-2.58	0.05866	-2.318000	0.01202	.	.	-2.102000	0.00394	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.0:0.4308:0.0	5.628	0.16773	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012405	0.000000	0.013369	0.016129	0.000000	0.046512	0.000000	0.010417	0.6429	15864.1	124	chr21	13610631	.	A	G	15864.1	.	AC=9;AF=0.643;AN=14;BaseQRankSum=-1.282;DP=916;ExcessHet=0.4813;FS=6.707;MLEAC=9;MLEAF=0.643;MQ=47.47;MQRankSum=-13.36;QD=18.64;ReadPosRankSum=0.419;SOR=1.139	GT:AD:DP:GQ:PL	0/1:1,4:5:26:84,0,26	1	3	3	0
chr21	30592527	30592619	GGAGGCCTGGGCTGTGGTTATGGCGGCTGTGGCTATGGGTGCTGTGGCTACGGAGGCCTGGGCTTTGGCTATGGAGGCCTGGACTGTGGCTAT	-	exonic	KRTAP6-3	.	nonframeshift deletion	KRTAP6-3:NM_181605:exon1:c.82_174del:p.G36_G66del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	43.4	34	chr21	30592526	.	CGGAGGCCTGGGCTGTGGTTATGGCGGCTGTGGCTATGGGTGCTGTGGCTACGGAGGCCTGGGCTTTGGCTATGGAGGCCTGGACTGTGGCTAT	C	43.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.23;ReadPosRankSum=1.38;SOR=0.693	GT:AD:DP:GQ:PL	0/1:4,2:6:54:54,0,162	6	0	1	0
chr21	30592597	30592597	A	0	exonic	KRTAP6-3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	14950.4	94	chr21	30592597	.	A	*	14950.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.08;DP=625;ExcessHet=0.0921;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=25.69;ReadPosRankSum=0.788;SOR=0.635	GT:AD:DP:GQ:PL	0/1:4,2:6:54:54,0,162	6	0	1	0
chr21	32333334	32333334	C	A	exonic	URB1	.	nonsynonymous SNV	URB1:NM_014825:exon30:c.G4943T:p.S1648I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.0123745393505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.33923	T	0.002	0.79402	D	0.623	0.39993	P	0.253	0.39112	B	0.000000	0.84330	D	0.038169	0.999871	0.50225	D	2.72	0.79541	M	1.27	0.36146	T	-2.57	0.55501	D	0.541	0.56833	-1.0813	0.07099	T	0.079	0.31496	T	10	0.36790454	0.53247	T	0.012375	0.30882	T	0.150	0.39571	0.655	0.79276	0.238705975628	0.23479	0.6501925755230383	0.64955	.	.	0.620228052139	0.55761	T	0.027138	0.19936	T	-0.0486508	0.44651	T	-0.30766	0.43910	T	0.936524868011475	0.60559	D	0.844815	0.52285	T	0.2933291	0.52300	0.24154727	0.49555	0.2933291	0.52300	0.24154727	0.49554	-9.83	0.72888	D	.	.	0.247	0.48177	B	.	.	3.238183	0.44194	21.9	0.99116663859581211	0.52880	0.98016	0.78896	D	AEFBI	0.360419	0.45039	N	0.0902039996474504	0.46007	2.847835	0.161464671175337	0.47753	3.00079	0.999999986372385	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	4.5	0.54382	3.884000	0.55888	3.239000	0.36954	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.603000	0.31463	0.1519:0.8481:0.0:0.0	13.968	0.63730	914	0.21048	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr21	32333334	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=190;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr21	40708646	40708646	T	C	exonic	DSCAM	.	nonsynonymous SNV	DSCAM:NM_001271534:exon2:c.A169G:p.R57G,DSCAM:NM_001389:exon2:c.A169G:p.R57G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.0931381304776	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.39334	T	0.0	0.92824	D	0.322	0.33059	B	0.19	0.36341	B	0.000000	0.84330	D	0.000000	0.66823	0.33117	D	3.005	0.85968	M	2.67	0.12473	T	-2.57	0.55501	D	0.937	0.94314	-1.0248	0.22148	T	0.047	0.20077	T	10	0.74765	0.75405	D	0.093138	0.76018	D	0.276	0.59253	0.542	0.65446	0.860368456844	0.85902	0.8053165998004908	0.80486	1.67370326828	0.89891	0.80511367321	0.82742	D	0.164892	0.51053	T	0.149192	0.69193	D	-0.0234728	0.68801	D	0.982511758804321	0.74538	D	0.974903	0.91072	D	0.36230403	0.58012	0.27297428	0.53213	0.36230403	0.58012	0.27297428	0.53212	-10.269	0.75507	D	.	.	0.684	0.72295	P	.	.	4.013857	0.59233	24.1	0.99677317113092756	0.78977	0.87886	0.47583	D	AEFBI	0.495581	0.53089	N	-0.0688617582270188	0.38765	2.275423	-0.0371470524362383	0.38051	2.236411	0.860033205527814	0.25207	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.1	1.05	0.19280	4.082000	0.57357	0.925000	0.22734	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.4326:0.5674	11.817	0.51489	513	0.74941	Immunoglobulin subtype 2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	37	chr21	40708646	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=202;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr21	42111559	42111559	C	A	exonic	UMODL1	.	nonsynonymous SNV	UMODL1:NM_001199527:exon11:c.C2121A:p.D707E,UMODL1:NM_173568:exon11:c.C2337A:p.D779E,UMODL1:NM_001004416:exon12:c.C1953A:p.D651E,UMODL1:NM_001199528:exon12:c.C1737A:p.D579E	.	426	1020	74	2	0	78	0.0368272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0048	0.00459265	0.0083	0.0012	0.0045	0	0.0023	0.0080	0.0056	0.0233	0.0075549	1168	154602	rs140135030	0.0070	0.0070	0.0063	0.0077	0.0354	0.0069	0.0068	0.0314	0.0299	0.0009	0.0054	0.0232	5.039e-05	0.0014	0.0354	0.0057	0.0088	0.0249	0.0054	0.0054	0.0051	0.0057	0.0188	0.0051	0.0050	0.0157	0.0146	0.0011	0	0.0082	0.0199	0	0.0007	0.0204	0.0067	0.0081	0.0188	0.325	0.27194	T	0.733	0.12142	T	0.187	0.31319	B	0.08	0.28873	B	0.185998	0.03216	N	1.688570	1	0.08975	N	1.5	0.37844	L	-0.53	0.70833	T	-0.8	0.22078	N	0.07	0.12055	-0.9874	0.33249	T	0.137	0.45432	T	10	0.002900362	0.00046	T	.	.	.	0.025	0.05312	0.13	0.03494	0.265010934533	0.26120	0.09560597137393033	0.09492	0.313514092549	0.33644	0.258530199528	0.04717	T	0.004089	0.03502	T	-0.549777	0.00293	T	-0.544907	0.17817	T	0.00342129005796419	0.00036	T	0.59884	0.23175	T	0.059739888	0.12177	0.045058846	0.05978	0.059739888	0.12177	0.045058846	0.05978	-2.767	0.07883	T	.	.	0.147	0.50871	B	.;.;.;.	.;.;.;.	-0.189392	0.03145	0.508	0.76817094624353499	0.11621	0.04875	0.10616	N	AEFDBHCI	0.102208	0.20509	N	-0.986139826949741	0.08899	0.4190532	-1.0491067709566	0.08725	0.4304242	0.996676952249143	0.34917	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.29	0.034	0.13502	-0.668000	0.05369	-1.372000	0.05595	0.518000	0.23583	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5592:0.1545:0.2863	5.142	0.14292	981	0.03995	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.032226	0.035354	0.020380	0.023392	0.000000	0.043103	0.039634	0.049242	0.1429	2297.24	63	chr21	42111559	.	C	A	2297.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.89;DP=584;ExcessHet=0.3476;FS=0.55;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=0.976;SOR=0.768	GT:AD:DP:GQ:PL	0/1:3,5:8:96:116,0,96	5	0	2	0
chr21	42477368	42477368	A	C	exonic	RSPH1	.	nonsynonymous SNV	RSPH1:NM_001286506:exon6:c.T536G:p.L179W,RSPH1:NM_080860:exon7:c.T650G:p.L217W	Ciliary dyskinesia, primary, 24, Autosomal recessive	419	1072	30	1	0	32	0.0147059	.	.	.	243626	not_provided|Primary_ciliary_dyskinesia|not_specified|Primary_ciliary_dyskinesia_24	MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374|MONDO:MONDO:0014202,MedGen:C3809634,OMIM:615481,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.337	.	0.0075	0.00259585	0.0073	0.0017	0.0037	0.0001	0.0020	0.0107	0.0044	0.0054	0.0071603	1107	154602	rs138007679	0.0087	0.0087	0.0087	0.0088	0.0199	0.0086	0.0086	0.0170	0.0159	0.0011	0.0044	0.0179	2.519e-05	0.0018	0.0199	0.0097	0.0100	0.0053	0.0070	0.0070	0.0074	0.0066	0.0108	0.0067	0.0065	0.0101	0.0098	0.0017	0.0100	0.0092	0.0201	0	0.0007	0.0310	0.0108	0.0083	0.0030	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.981	0.75168	D	0.069443	0.21604	N	0.437144	0.995387	0.23650	N	2.22	0.62911	M	-0.43	0.71662	T	-4.18	0.76094	D	0.69	0.69562	-0.5802	0.65609	T	0.360	0.72201	T	10	0.009697765	0.00218	T	.	.	.	0.337	0.65913	.	.	0.651676189787	0.64878	0.7483150795058281	0.74777	0.640128570775	0.57655	0.587133646011	0.51090	T	0.518742	0.83130	D	-0.320675	0.06842	T	-0.223016	0.52446	T	0.0454924431433719	0.04692	T	0.805019	0.45286	T	0.17939371	0.39008	0.2904774	0.55070	0.19862854	0.41773	0.2573554	0.51450	-7.512	0.57912	D	.	.	0.435	0.64265	A	.;.	.;.	3.936228	0.57567	23.9	0.95818254659302704	0.27904	0.70193	0.34490	D	AEFDGBCI	0.477952	0.52072	N	0.412952004087937	0.62133	4.424404	0.297161445250001	0.55373	3.700439	0.999999681311236	0.74766	0.554377	0.28877	0	0.296712	0.05252	1	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.3	4.3	0.50540	5.217000	0.65084	10.629000	0.83502	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.008000	0.08271	0.9018:0.0:0.0982:0.0	7.699	0.27779	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.014617	0.025253	0.016304	0.008824	0.000000	0.017241	0.015244	0.007576	0.1429	97.4	34	chr21	42477368	.	A	C	97.4	.	AC=2;AF=0.143;AN=14;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=24.35;SOR=1.609	GT:AD:DP:GQ:PL	1/1:0,4:4:12:117,12,0	6	1	0	0
chr21	44509367	44509367	C	A	exonic	TSPEAR	.	nonsynonymous SNV	TSPEAR:NM_144991:exon10:c.G1586T:p.W529L,TSPEAR:NM_001272037:exon11:c.G1382T:p.W461L	Deafness, autosomal recessive 98, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.635	0.0619774273732	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.342	0.12632	T	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	2.82	0.82106	M	-1.3	0.79571	T	-4.87	0.81269	D	0.865	0.86191	0.132	0.84745	D	0.634	0.87171	D	10	0.8623754	0.85463	D	0.061977	0.68504	D	0.635	0.86027	0.577	0.70217	0.762197071436	0.76002	0.6206158775675715	0.61994	0.140100657607	0.15791	0.657496094704	0.61051	T	0.647211	0.89251	D	0.369174	0.87979	D	0.292517	0.87826	D	0.998793840408325	0.95188	D	0.947505	0.79737	D	0.6984085	0.77970	0.47742188	0.69725	0.6984085	0.77971	0.47742188	0.69725	-14.58	0.94789	D	0.5705091678606617	0.63771	0.635	0.70321	P	.;.	.;.	5.346235	0.89688	31	0.97654459607078636	0.35160	0.98421	0.82603	D	AEFDBI	0.870148	0.79100	D	0.535013716158954	0.69176	5.319866	0.472170548641907	0.66153	4.915096	0.999999999999995	0.74766	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	3.98	3.98	0.45383	7.191000	0.77294	7.341000	0.58248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.766000	0.36367	0.0:1.0:0.0:0.0	17.024	0.86315	970	0.06235	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1429	33.22	38	chr21	44509367	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr21	44600767	44600767	-	CAGCT	exonic	KRTAP10-7	.	frameshift insertion	KRTAP10-7:NM_198689:exon1:c.146_147insCAGCT:p.A50Sfs*6	.	398	1104	3	0	17	20	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.516e-05	0.0001	1.371e-05	1.662e-05	0.0002	9.92e-06	8.47e-06	0.0001	8.963e-05	0.0002	0	0	0	5.661e-05	0.0002	1.805e-06	3.347e-05	7.127e-05	0.0001	0.0016	0.0001	0.0001	0.0002	7.864e-05	6.518e-05	0.0001	9.292e-05	0.0002	0	6.681e-05	0	0.0002	0	0	8.907e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	31.79	33	chr21	44600767	.	C	CCAGCT	31.79	.	AC=2;AF=0.143;AN=14;DP=386;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=31.79;SOR=1.609	GT:AD:DP:GQ:PL	1/1:0,1:1:3:45,3,0	6	1	0	0
chr21	46228743	46228743	C	T	exonic	LSS	.	nonsynonymous SNV	LSS:NM_001001438:exon1:c.G3A:p.M1I,LSS:NM_001145436:exon1:c.G3A:p.M1I,LSS:NM_002340:exon1:c.G3A:p.M1I	Cataract 44, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.272780864253	.	.	1.199e-05	0	0	0.0002	0	0	0	0	6.5e-06	1	154602	rs753714824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.627e-06	6.598e-06	1.295e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.018	0.50676	D	0.188	0.28958	T	0.043	0.21573	B	0.01	0.14941	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	2.63	0.12884	T	-0.87	0.25118	N	0.747	0.74644	-1.0231	0.22704	T	0.023	0.09787	T	9	0.97159815	0.96778	D	0.272781	0.89942	D	0.157	0.40909	0.999	0.99990	0.24896430686	0.24499	0.6525760799389821	0.65193	.	.	.	.	.	0.090693	0.38637	T	-0.130678	0.31386	T	-0.425486	0.30449	T	0.865239024162292	0.51536	D	0.9	0.65058	D	0.7674034	0.81892	0.5998309	0.76754	0.7674034	0.81893	0.5998309	0.76755	-9.91	0.73395	D	.	.	.	.	.	.;.;.	.;.;.	2.850495	0.37631	20.5	0.96688018183530511	0.30726	0.06353	0.12352	N	ALL	0.024823	0.01600	N	-0.75147119904606	0.14593	0.7282555	-0.816124201875836	0.14104	0.7352837	0.999999999997081	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.95	1.92	0.24912	1.234000	0.32262	2.121000	0.30720	0.516000	0.23499	0.003000	0.16062	0.016000	0.20520	0.120000	0.19168	0.2136:0.5794:0.2071:0.0	6.277	0.20193	940	0.13648	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1429	33.22	19	chr21	46228743	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=165;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chr21	46266123	46266123	A	C	exonic	MCM3AP	.	nonsynonymous SNV	MCM3AP:NM_003906:exon11:c.T2833G:p.L945V	.	419	1074	29	0	0	29	0.0133211	.	.	.	717271	MCM3AP-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.034	.	0.0047	0.00279553	0.0064	0.0008	0.0122	0	0.0089	0.0079	0.0188	0.0015	0.0059443	919	154602	rs144904756	0.0062	0.0062	0.0061	0.0063	0.0259	0.0061	0.0060	0.0225	0.0212	0.0014	0.0082	0.0256	0	0.0092	0.0259	0.0060	0.0079	0.0013	0.0049	0.0049	0.0048	0.0050	0.0057	0.0046	0.0045	0.0052	0.0050	0.0014	0	0.0053	0.0265	0	0.0094	0.0136	0.0057	0.0090	0.0006	0.357	0.12032	T	0.095	0.39492	T	0.146	0.27821	B	0.09	0.29851	B	0.001426	0.39044	N	0.219769	1	0.08975	N	1.905	0.50856	L	3.8	0.03781	T	-0.6	0.17834	N	0.442	0.48780	-1.0162	0.24948	T	0.010	0.03673	T	10	0.003976971	0.00077	T	.	.	.	0.034	0.08419	.	.	0.240615537116	0.23683	0.23897188706661074	0.23811	0.241407247156	0.26664	0.35556179285	0.18738	T	0.089058	0.38292	T	-0.672393	0.00053	T	-0.733917	0.04152	T	0.00493454904149325	0.00053	T	0.715328	0.32778	T	0.02376417	0.01144	0.034527432	0.02536	0.031549335	0.03014	0.034527432	0.02535	-5.563	0.42453	T	.	.	0.081	0.08081	B	.;.	.;.	0.158927	0.05500	1.963	0.68637270778372683	0.08720	0.29821	0.23922	N	AEFDBCI	0.106285	0.21211	N	-1.07576092996927	0.07092	0.3284427	-1.17687587523784	0.06297	0.3027039	0.742497390098923	0.23234	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.67	-3.91	0.03892	0.808000	0.26813	0.308000	0.17052	-0.208000	0.08445	0.158000	0.23769	0.000000	0.08366	0.438000	0.27627	0.412:0.1217:0.4664:0.0	8.573	0.32744	952	0.10565	Proteasome component (PCI) domain;Proteasome component (PCI) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.022155	0.010101	0.031250	0.023392	0.000000	0.025862	0.018293	0.007576	0.1429	1046.24	41	chr21	46266123	.	A	C	1046.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0;DP=302;ExcessHet=0.3476;FS=2.502;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.34;ReadPosRankSum=1.99;SOR=0.457	GT:AD:DP:GQ:PL	0/1:3,3:6:74:74,0,74	5	0	2	0
chr22	21959632	21959632	C	G	exonic	TOP3B	.	nonsynonymous SNV	TOP3B:NM_001282112:exon15:c.G1759C:p.D587H,TOP3B:NM_001282113:exon15:c.G1759C:p.D587H,TOP3B:NM_003935:exon15:c.G1759C:p.D587H,TOP3B:NM_001349845:exon16:c.G1759C:p.D587H,TOP3B:NM_001349847:exon16:c.G1759C:p.D587H,TOP3B:NM_001349848:exon16:c.G1351C:p.D451H,TOP3B:NM_001349851:exon16:c.G1351C:p.D451H,TOP3B:NM_001349850:exon17:c.G1351C:p.D451H,TOP3B:NM_001349852:exon17:c.G1351C:p.D451H	.	.	.	.	.	.	.	.	.	.	.	3346979	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.065	0.0443781667161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.45393	D	0.087	0.40747	T	0.356	0.33761	B	0.276	0.40142	B	0.000008	0.62929	D	0.142496	0.999997	0.81001	D	2.19	0.61577	M	1.91	0.23283	T	-2.94	0.61435	D	0.454	0.49237	-0.3991	0.72056	T	0.361	0.72300	T	10	0.3733345	0.53643	T	0.044378	0.61457	D	0.065	0.18881	0.385	0.40460	0.62846413496	0.62543	0.7411067416842851	0.74056	0.563558072501	0.52783	0.597298741341	0.52523	T	0.384715	0.74627	T	-0.0825146	0.39306	T	-0.356303	0.38481	T	0.965294480323792	0.67223	D	0.973703	0.90499	D	0.4690099	0.65229	0.29918197	0.55951	0.4690099	0.65230	0.29918197	0.55950	-8.576	0.64931	D	.	.	0.224	0.45605	B	.;.	.;.	4.518890	0.70831	25.6	0.99396952808841177	0.62610	0.95186	0.63755	D	AEFDGBHCI	0.622723	0.60693	D	0.461122151233887	0.64835	4.747441	0.520709862097929	0.69385	5.352856	0.999999999616177	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.78	4.57	0.55860	5.645000	0.67582	.	.	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.9236:0.0:0.0764	15.714	0.77420	699	0.57969	DNA topoisomerase, type IA, central;DNA topoisomerase, type IA, central	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	62.44	35	chr22	21959632	.	C	G	62.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.674;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.61;ReadPosRankSum=0.674;SOR=2.303	GT:AD:DP:GQ:PL	0/1:2,2:4:72:73,0,72	6	0	1	0
chr22	23767562	23767562	C	T	exonic	CHCHD10	.	nonsynonymous SNV	CHCHD10:NM_001301339:exon2:c.G73A:p.A25T,CHCHD10:NM_213720:exon2:c.G73A:p.A25T	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant;Spinal muscular atrophy, Jokela type, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.284649490245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.885e-06	1.629e-05	0	1.172e-05	7.396e-06	1.57e-06	4.4e-07	1.97e-06	5.5e-07	0	0	0	0	0	0	7.396e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.23905	T	0.066	0.44501	T	0.99	0.63424	D	0.548	0.49136	P	0.001487	0.38855	N	0.163001	0.998889	0.81001	D	2.385	0.68708	M	0.68	0.51952	T	-2.48	0.55181	N	0.205	0.22742	-0.8977	0.48224	T	0.145	0.46768	T	10	0.19974285	0.35994	T	0.284649	0.90353	D	0.059	0.16972	0.221	0.14371	0.367425347029	0.36354	0.3337907061106184	0.33292	0.484840346729	0.47389	0.768681645393	0.77228	T	0.078325	0.35865	T	-0.122605	0.32698	T	-0.41389	0.31778	T	0.969273746013641	0.68533	D	0.682032	0.29067	T	0.22083718	0.44648	0.21526349	0.46108	0.22083718	0.44648	0.21526349	0.46107	-5.246	0.39406	T	0.3004348731404725	0.39775	0.112	0.21766	B	.;.	.;.	2.944989	0.39173	20.9	0.99425303975153401	0.63984	0.56530	0.30141	D	AEFDBCI	0.204057	0.33053	N	0.0947995194011257	0.46220	2.865768	0.0367031720861767	0.41432	2.489152	0.999999999984256	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.492483	0.08430	1	.	.	3.77	3.77	0.42499	1.299000	0.33028	5.284000	0.48189	0.464000	0.21668	0.001000	0.13787	1.000000	0.68203	0.206000	0.22070	0.0:1.0:0.0:0.0	13.979	0.63801	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	77.68	10	chr22	23767562	.	C	T	77.68	.	AC=2;AF=0.143;AN=14;DP=132;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=25.89;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,3:3:8:1|1:23767562_C_T:95,8,0:23767562	6	1	0	0
chr22	24728188	24728188	C	T	exonic	PIWIL3	.	nonsynonymous SNV	PIWIL3:NM_001008496:exon15:c.G1921A:p.V641M,PIWIL3:NM_001255975:exon15:c.G1894A:p.V632M	.	426	1073	23	0	0	23	0.010604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.00361560990224	0.0035	0.00139776	0.0041	0.0007	0.0031	0	0.0008	0.0055	0.0077	0.0050	0.0040556	627	154602	rs148034582	0.0049	0.0049	0.0047	0.0050	0.0295	0.0048	0.0047	0.0259	0.0245	0.0007	0.0034	0.0235	0	0.0007	0.0295	0.0048	0.0049	0.0052	0.0035	0.0035	0.0031	0.0039	0.0080	0.0033	0.0032	0.0068	0.0064	0.0012	0	0.0080	0.0213	0	0.0010	0.0238	0.0036	0.0066	0.0033	0.002	0.72154	D	0.005	0.74150	D	1.0	0.90584	D	0.996	0.97372	D	0.000001	0.84330	U	0.000000	0.999958	0.52396	D	2.3	0.65703	M	2.27	0.17431	T	-2.17	0.49018	N	0.466	0.59816	-0.9902	0.32551	T	0.094	0.35658	T	10	0.006213516	0.00140	T	0.003616	0.08278	T	0.332	0.65424	.	.	0.570720304676	0.56738	0.07619775018203243	0.07555	0.540815140974	0.51270	0.43589502573	0.30015	T	0.09227	0.38968	T	-0.393089	0.02569	T	-0.336606	0.40729	T	0.0337824151682511	0.02601	T	0.707729	0.31835	T	0.2770754	0.50766	0.34266573	0.59989	0.2770754	0.50766	0.34266573	0.59989	-7.439	0.57180	T	.	.	0.416	0.68202	A	.;.;.;.	.;.;.;.	3.728588	0.53327	23.3	0.9962245849106649	0.75533	0.55461	0.29870	D	AEFDGBCI	0.398365	0.47407	N	0.195139717388461	0.50965	3.281706	-0.0185238681218183	0.38878	2.296966	0.999994180458685	0.74766	0.616025	0.39624	0	0.547309	0.14657	0	0.547309	0.15389	0	0.677038	0.66255	0	.	.	2.71	1.68	0.23219	4.947000	0.63283	6.306000	0.55421	0.467000	0.21759	1.000000	0.71638	1.000000	0.68203	0.178000	0.21234	0.0:0.8598:0.0:0.1402	7.385	0.26051	472	0.77968	Piwi domain|Piwi domain|Piwi domain;Piwi domain|Piwi domain|Piwi domain;Piwi domain|Piwi domain|Piwi domain;Piwi domain|Piwi domain|Piwi 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	0.026687	0.055556	0.029891	0.038012	0.000000	0.025862	0.018293	0.011364	0.07143	52.44	41	chr22	24728188	.	C	T	52.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.967;DP=258;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.83;ReadPosRankSum=-1.803;SOR=1.179	GT:AD:DP:GQ:PL	0/1:6,3:9:63:63,0,121	6	0	1	0
chr22	37075168	37075168	G	A	exonic	TMPRSS6	.	nonsynonymous SNV	TMPRSS6:NM_001289000:exon11:c.C1309T:p.R437W,TMPRSS6:NM_001289001:exon11:c.C1309T:p.R437W,TMPRSS6:NM_001374504:exon11:c.C1309T:p.R437W,TMPRSS6:NM_153609:exon11:c.C1309T:p.R437W	Iron-refractory iron deficiency anemia, Autosomal recessive	0	1502	20	0	0	20	0.00661376	.	.	.	237221	not_provided|Microcytic_anemia	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001935,MONDO:MONDO:0001245,MedGen:C5194182	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.137	.	0.0054	0.00359425	0.0084	0.0014	0.0016	0	0.0523	0.0081	0.0155	0.0052	0.0075161	1162	154602	rs117576908	0.0077	0.0077	0.0078	0.0075	0.0066	0.0076	0.0075	0.0065	0.0064	0.0009	0.0017	0.0011	0	0.0552	0.0038	0.0066	0.0063	0.0046	0.0080	0.0080	0.0058	0.0103	0.0068	0.0076	0.0075	0.0063	0.0061	0.0013	0	0.0023	0.0009	0	0.0596	0	0.0068	0.0071	0.0029	0.06	0.37326	T	0.041	0.50514	D	0.876	0.51285	P	0.153	0.44752	B	0.000064	0.52346	D	0.130546	0.937454	0.37191	D	0.975	0.24501	L	1.99	0.21666	T	-1.49	0.36385	N	0.511	0.54234	-1.0551	0.13013	T	0.026	0.11043	T	10	0.005034983	0.00108	T	.	.	.	0.137	0.36984	.	.	0.674193276518	0.67143	0.3907384918288052	0.38988	0.297400424113	0.32122	0.275892853737	0.06926	T	0.120847	0.44338	T	-0.420592	0.01695	T	-0.372222	0.36629	T	0.0207014071583731	0.00770	T	0.881212	0.60074	D	0.16913334	0.37412	0.22019187	0.46785	0.2607788	0.49134	0.19025114	0.42416	-7.565	0.58401	D	.	.	0.107	0.20157	B	.;.;.;.	.;.;.;.	4.551730	0.71641	25.7	0.99802209842044287	0.88728	0.97954	0.78397	D	AEFDBI	0.958851	0.97887	D	0.227325687900495	0.52528	3.426	0.343333235051212	0.58108	3.979418	0.999999850102313	0.74766	0.59774	0.34471	0	0.627178	0.54094	0	0.596491	0.31596	0	0.542086	0.14980	0	.	.	5.27	5.27	0.73797	7.324000	0.78389	9.517000	0.80928	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.520000	0.29475	0.0:0.0:1.0:0.0	18.876	0.92305	963	0.08280	CUB domain|CUB domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002016	0.000000	0.001359	0.005848	0.000000	0.008621	0.000000	0.003788	0.1429	79.4	34	chr22	37075168	.	G	A	79.4	.	AC=2;AF=0.143;AN=14;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=19.85;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,4:4:12:99,12,0	6	1	0	0
chr22	38752601	38752601	G	A	exonic	SUN2	.	nonsynonymous SNV	SUN2:NM_001199579:exon2:c.C28T:p.R10C,SUN2:NM_015374:exon2:c.C28T:p.R10C,SUN2:NM_001199580:exon3:c.C28T:p.R10C	.	394	1127	1	0	0	1	0.000443459	.	.	.	470301	Emery-Dreifuss_muscular_dystrophy|not_provided	MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.152	0.0388681299819	0.0005	0.000998403	0.0002	0.0019	0.0004	0	0	6.155e-05	0	0	0.0002135	33	154602	rs139611023	0.0001	0.0001	0.0001	0.0001	0.0020	9.941e-05	9.35e-05	0.0016	0.0015	0.0020	0.0004	0	0	1.878e-05	0.0002	4.676e-05	0.0004	2.319e-05	0.0006	0.0006	0.0007	0.0005	0.0019	0.0005	0.0005	0.0016	0.0014	0.0019	0	0.0005	0.0003	0	0	0	5.88e-05	0.0009	0	0.014	0.91255	D	0.052	0.92824	T	1.0	0.90584	D	0.996	0.84481	D	0.000411	0.44736	D	0.156215	0.99983	0.49637	D	2.555	0.74557	M	2.51	0.42122	T	-2.18	0.93020	N	0.674	0.75559	-0.8847	0.49382	T	0.125	0.42924	T	10	0.022436708	0.00560	T	0.038868	0.58476	D	0.152	0.39956	.	.	0.554235320232	0.55081	0.2582121154090907	0.25735	1.02170018296	0.75144	0.772068619728	0.77735	T	0.423552	0.77427	T	-0.278214	0.10857	T	-0.17827	0.56683	T	0.0554853608708909	0.06438	T	0.927907	0.73770	D	0.102882005	0.24313	0.08713096	0.20234	0.102882005	0.24313	0.08713096	0.20234	-6.662	0.52641	T	.	.	0.232	0.64975	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	5.716051	0.93200	33	0.99917296184635063	0.98518	0.86101	0.45320	D	AEFDGBCI	0.614173	0.60159	D	0.550357800543472	0.70105	5.452745	0.55856718132662	0.71996	5.740687	0.999999999350469	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.82	4.82	0.61641	5.347000	0.65768	11.505000	0.92979	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	15.178	0.72607	819	0.41190	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002024	0.000000	0.005450	0.005882	0.000000	0.000000	0.000000	0.000000	0.07143	108.44	34	chr22	38752601	.	G	A	108.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.366;DP=232;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.49;ReadPosRankSum=1.98;SOR=1.022	GT:AD:DP:GQ:PL	0/1:2,5:7:28:119,0,28	6	0	1	0
chr22	42142559	42142559	C	T	exonic	CYP2D7	.	unknown	UNKNOWN	.	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	.	.	.	4.096e-05	0	0.0014	0	0	0	0	0	.	.	.	rs762878819	1.406e-05	1.368e-05	1.254e-05	1.561e-05	0.0002	9.19e-06	7.47e-06	3.15e-05	2.139e-05	0	0	0	0	0	0.0002	9.16e-06	5.092e-05	7.389e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248152	0.15566	N	0.629307	.	.	.	.	.	.	.	.	.	.	.	.	0.431	0.57006	-0.3682	0.73016	T	0.325	0.69324	T	8	0.08866772	0.15288	T	.	.	.	.	.	.	.	0.0611884634855	0.05136	.	.	.	.	.	.	.	0.073867	0.34802	T	-0.260899	0.12795	T	-0.489996	0.23390	T	0.529760837554932	0.33725	D	0.878612	0.60074	D	0.049877282	0.08925	0.07492915	0.16445	0.049877282	0.08925	0.07492915	0.16444	-9.183	0.68868	D	.	.	0.151	0.33504	B	.;.	.;.	2.379249	0.30541	18.47	0.98767749809682481	0.45924	0.27270	0.23230	N	AEFDGBI	0.163333	0.28961	N	-0.285586253640596	0.29703	1.649647	-0.412060637678876	0.24644	1.350615	0.984047583918621	0.30654	0.092769	0.02424	0	0.130567	0.03505	0	0.072005	0.02045	0	0.083433	0.02327	0	.	.	3.82	3.82	0.43153	0.640000	0.24394	-0.109000	0.11851	-0.305000	0.06155	0.007000	0.17678	0.000000	0.08366	0.001000	0.02609	0.0:1.0:0.0:0.0	11.466	0.49483	106	0.95650	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	215.44	42	chr22	42142559	.	C	T	215.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.38;DP=459;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=52.11;MQRankSum=-1.127;QD=11.97;ReadPosRankSum=-0.4;SOR=0.693	GT:AD:DP:GQ:PL	0/1:8,10:18:99:226,0,144	6	0	1	0
chr22	50217099	50217099	G	A	exonic	SELENOO	.	unknown	UNKNOWN	.	426	1083	13	0	0	13	0.00596604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	.	0.0010	0.00319489	0.0038	0.0002	0.0024	0	0.0003	0.0011	0.0034	0.0208	0.0031953	494	154602	rs199789705	0.0023	0.0023	0.0018	0.0029	0.0209	0.0023	0.0022	0.0201	0.0198	0.0003	0.0024	0.0005	5.039e-05	7.64e-05	0.0045	0.0012	0.0023	0.0209	0.0015	0.0015	0.0010	0.0020	0.0203	0.0014	0.0013	0.0170	0.0158	9.626e-05	0.0263	0.0016	0	0	0	0.0034	0.0011	0.0014	0.0203	0.291	0.14945	T	0.351	0.17425	T	0.462	0.36386	P	0.153	0.34292	B	0.018225	0.27531	N	0.394088	0.998546	0.45064	D	2.125	0.59049	M	0.84	0.47477	T	-1.71	0.40660	N	0.545	0.57177	-1.0709	0.09216	T	0.099	0.36856	T	10	0.009378403	0.00212	T	.	.	.	0.133	0.36157	.	.	0.518697010188	0.51514	.	.	0.120188886323	0.13538	0.569876730442	0.48660	T	0.024215	0.18341	T	-0.402997	0.02213	T	-0.335397	0.40865	T	0.0174574593105553	0.00482	T	0.990701	0.97129	D	0.06846839	0.14919	0.10141093	0.24276	0.06846839	0.14919	0.10141093	0.24276	.	.	.	.	.	0.150	0.33179	B	.;.	.;.	2.366881	0.30367	18.41	0.99534063890246804	0.70087	0.91253	0.53161	D	AEFBCI	0.754708	0.69450	D	-0.143293376161727	0.35522	2.041333	-0.0995806134462495	0.35407	2.048166	0.999332909088477	0.39185	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.18	3.01	0.33872	4.593000	0.60743	2.069000	0.30434	0.614000	0.49286	1.000000	0.71638	0.989000	0.31174	0.358000	0.25841	0.0:0.132:0.7307:0.1373	11.953	0.52253	684	0.59539	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.000000	0.002717	0.008772	0.000000	0.008621	0.015244	0.022727	0.07143	113.44	36	chr22	50217099	.	G	A	113.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.17;DP=233;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=-1.063;SOR=0.495	GT:AD:DP:GQ:PL	0/1:6,5:11:99:124,0,125	6	0	1	0
chrX	3084292	3084292	C	A	exonic	ARSF	.	nonsynonymous SNV	ARSF:NM_001201538:exon6:c.C456A:p.H152Q,ARSF:NM_001201539:exon6:c.C456A:p.H152Q,ARSF:NM_004042:exon6:c.C456A:p.H152Q	.	430	1091	0	1	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.654	0.190101046255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.02	0.58613	D	0.981	0.59675	D	0.978	0.74104	D	0.000269	0.46590	U	0.184724	0.99686	0.43468	D	1.915	0.51223	L	-3.3	0.93787	D	-7.09	0.93950	D	0.592	0.61256	0.703	0.93206	D	0.863	0.95434	D	10	0.8241632	0.81603	D	0.190101	0.86103	D	0.654	0.86986	0.629	0.76478	0.696565107391	0.69394	0.646965746727596	0.64631	0.498106368391	0.48292	0.339914947748	0.16425	T	0.730653	0.92459	D	0.112534	0.65613	D	-0.0761296	0.65186	T	0.974249303340912	0.70427	D	0.825317	0.48765	T	0.5222603	0.68389	0.39661878	0.64299	0.5222603	0.68390	0.39661878	0.64299	-8.749	0.66067	D	.	.	0.696	0.73612	P	.;.	.;.	2.323248	0.29754	18.22	0.98617845428056283	0.43731	0.46915	0.27866	N	AEFGBI	.	.	.	.	.	.	.	.	.	2.04855907990172E-4	0.05948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.44	1.09	0.19517	-0.088000	0.11163	-0.991000	0.06679	0.547000	0.25779	0.933000	0.32380	0.081000	0.22384	0.873000	0.41610	0.0:0.6631:0.0:0.3369	8.895	0.34617	1000	0.00083	Sulfatase, N-terminal;Sulfatase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	61.44	34	chrX	3084292	.	C	A	61.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.15;DP=202;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.36;ReadPosRankSum=-1.15;SOR=0.446	GT:AD:DP:GQ:PL	0/1:1,3:4:28:72,0,28	6	0	1	0
chrX	35967712	35967712	C	T	exonic	CFAP47	.	nonsynonymous SNV	CFAP47:NM_001304548:exon10:c.C1694T:p.S565L,CFAP47:NM_152632:exon10:c.C1694T:p.S565L	.	439	1067	9	7	0	23	0.010663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.303722080294	0.0013	0.000264901	0.0021	0.0002	0.0003	0	0.0007	0.0018	0	0.0085	0.0018046	279	154602	rs139917087	0.0016	0.0016	0.0014	0.0020	0.0081	0.0015	0.0015	0.0075	0.0072	3.796e-05	0.0005	0.0178	0	0.0009	0.0070	0.0010	0.0021	0.0081	0.0011	0.0012	0.0011	0.0012	0.0057	0.0010	0.0009	0.0035	0.0028	9.831e-05	0	0.0008	0.0163	0	0.0009	0	0.0008	0.0046	0.0057	0.003	0.68238	D	0.007	0.74150	D	0.999	0.77913	D	0.964	0.71005	D	0.003573	0.34767	N	0.244508	0.971333	0.25658	N	.	.	.	2.09	0.20122	T	-4.51	0.78222	D	0.545	0.57177	-0.9646	0.38290	T	0.133	0.44603	T	10	0.006130278	0.00138	T	0.303722	0.90966	D	0.205	0.49236	.	.	0.229543500084	0.22568	0.28002470413414443	0.27915	0.496707143037	0.48176	.	.	.	0.112852	0.42944	T	-0.501414	0.00561	T	-0.488878	0.23508	T	0.0567158743217567	0.06641	T	0.794521	0.43681	T	0.20438586	0.42547	0.30867738	0.56886	0.20438586	0.42547	0.30867738	0.56885	-4.05	0.24802	T	.	.	0.143	0.33958	B	.;.	.;.	2.615283	0.33978	19.50	0.99870885436492607	0.94815	0.88401	0.48312	D	AEFI	.	.	.	.	.	.	.	.	.	0.753485858743551	0.23397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.35	5.35	0.76297	5.397000	0.66048	5.881000	0.50644	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.007000	0.07825	0.0:1.0:0.0:0.0	15.397	0.74519	563	0.71062	.;.	.	.	.	.	.	Uncertain significance	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	0.001376	0.000000	0.000000	0.003953	0.000000	0.000000	0.004425	0.000000	0.1429	33.22	34	chrX	35967712	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=202;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chrX	38805332	38805332	A	G	exonic	MID1IP1	.	nonsynonymous SNV	MID1IP1:NM_001098791:exon2:c.A386G:p.D129G,MID1IP1:NM_001098790:exon3:c.A386G:p.D129G,MID1IP1:NM_021242:exon3:c.A386G:p.D129G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00343112465482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.824e-06	1.821e-06	2.723e-06	0	6.622e-05	3e-07	1.1e-07	1.096e-05	4.1e-06	0	0	0	6.622e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.11770	T	0.186	0.28860	T	0.0	0.02946	B	0.0	0.01387	B	0.500509	0.05089	N	1.356640	0.93301	0.27006	N	0.92	0.23413	L	.	.	.	-0.87	0.23590	N	0.098	0.07949	-1.0146	0.25464	T	0.064	0.26456	T	9	0.13651976	0.25974	T	0.003431	0.07725	T	0.057	0.16321	0.432	0.48171	0.602722737475	0.59954	0.6161898946331331	0.61550	0.446624210647	0.44532	0.6190995574	0.55602	T	0.030059	0.21398	T	-0.248363	0.14300	T	-0.594532	0.13276	T	0.0739516168832779	0.09195	T	0.60194	0.22516	T	0.130631	0.30476	0.116227366	0.28059	0.130631	0.30475	0.116227366	0.28058	-3.742	0.19940	T	.	.	0.159	0.35056	B	.;.;.;.	.;.;.;.	2.363622	0.30321	18.40	0.93390516935453993	0.23144	0.66129	0.32971	D	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999999946950175	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.48	3.33	0.37245	1.619000	0.36575	4.685000	0.44339	0.756000	0.94297	0.987000	0.36337	1.000000	0.68203	0.998000	0.85391	0.7871:0.0:0.2129:0.0	7.111	0.24568	912	0.21483	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1429	33.22	33	chrX	38805332	.	A	G	33.22	.	AC=2;AF=0.143;AN=14;DP=200;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chrX	43958519	43958519	G	-	exonic	NDP	.	frameshift deletion	NDP:NM_000266:exon2:c.127delC:p.H43Tfs*61	Exudative vitreoretinopathy 2, X-linked;Norrie disease, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	34.4	34	chrX	43958518	.	TG	T	34.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.493;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.44;ReadPosRankSum=0.282;SOR=0.368	GT:AD:DP:GQ:PL	0/1:8,2:10:45:45,0,269	6	0	1	0
chrX	51618674	51618674	G	A	exonic	CENPVL3	.	nonsynonymous SNV	CENPVL3:NM_001355276:exon1:c.C200T:p.A67V	.	972	545	2	3	0	8	0.00728597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000529801	.	.	.	.	.	.	.	.	0.00146	38	26028	rs538868460	0.0051	0.0021	0.0049	0.0055	0.0185	0.0048	0.0047	0.0118	0.0097	0.0007	0.0025	0.0252	0	0.0008	0.0185	0.0055	0.0059	0.0005	0.0033	0.0035	0.0035	0.0031	0.0047	0.0031	0.0030	0.0042	0.0040	0.0005	0	0.0031	0.0253	0	0	0.0047	0.0047	0.0045	0.0011	.	.	.	0.536	0.09897	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.05287	.	.	.	.	.	.	.	0.004308492	0.00087	T	.	.	.	.	.	.	.	.	.	0.0970760568449574	0.09638	.	.	.	.	.	0.01623	0.13458	T	.	.	.	.	.	.	.	.	.	0.246775	0.03632	T	0.028518168	0.02202	0.09111467	0.21405	0.028518168	0.02201	0.09111467	0.21404	-5.089	0.37791	T	.	.	0.070	0.03552	B	.	.	-0.144471	0.03387	0.607	0.97837391998570089	0.36305	0.00190	0.01102	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.682707950331134	0.22498	.	.	.	.	.	.	.	.	.	.	.	.	0.0762906	0.17648	2.4	-0.294	0.12196	-1.058000	0.03593	-0.537000	0.08604	-0.121000	0.13915	0.000000	0.06391	0.000000	0.08366	0.026000	0.12556	0.3043:0.0:0.6957:0.0	7.169	0.24883	238	0.90711	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1429	33.22	33	chrX	51618674	.	G	A	33.22	.	AC=2;AF=0.143;AN=14;DP=202;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X,FAM104B:NM_001166701:exon3:c.C328T:p.R110X,FAM104B:NM_001166702:exon3:c.C319T:p.R107X,FAM104B:NM_001166703:exon3:c.C325T:p.R109X	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0042	0	0	0.0002	7.025e-05	0	0.0001	0.0310669	4803	154602	rs1047054	7.297e-06	9.106e-06	9.533e-06	2.762e-06	3.791e-05	3.14e-06	2.27e-06	6.14e-06	2.3e-06	3.791e-05	0	0	0	0	0	5.942e-06	0	3.701e-05	1.802e-05	1.746e-05	1.286e-05	3.013e-05	0.0004	2.99e-06	1.12e-06	.	.	3.282e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984587	0.24787	N	.	.	.	.	.	.	.	.	.	0.121	0.18512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334032	0.85436	D	0.242037	0.85245	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.503254	0.70449	25.5	0.92570320911590998	0.22025	0.23489	0.22092	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986651300857	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.637	0.16907	1.269000	0.32677	-0.938000	0.06858	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.291000	0.24285	0.0:0.0:0.6198:0.3802	4.504	0.11285	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.069015	0.068027	0.074212	0.055556	0.000000	0.094118	0.048673	0.068421	0.6429	77347.4	456	chrX	55146104	.	G	A	77347.4	.	AC=9;AF=0.643;AN=14;BaseQRankSum=1.09;DP=3383;ExcessHet=4.7409;FS=0.72;MLEAC=9;MLEAF=0.643;MQ=60;MQRankSum=0;QD=23.53;ReadPosRankSum=0.916;SOR=0.605	GT:AD:DP:GQ:PL	0/1:3,24:27:4:739,0,4	0	2	5	0
chrX	55146173	55146173	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C262T:p.P88S,FAM104B:NM_001166701:exon3:c.C259T:p.P87S,FAM104B:NM_001166702:exon3:c.C250T:p.P84S,FAM104B:NM_001166703:exon3:c.C256T:p.P86S	.	395	510	614	3	0	620	0.378049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00397070644289	.	.	0	0	0	0	0	0	0	0	0.0018057	47	26028	rs113745415	0	9.135e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.72e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.1	0.44029	T	0.019	0.59159	D	0.137	0.27402	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	.	.	.	1.03	0.40469	T	-0.15	0.09297	N	0.133	0.30461	-1.0449	0.15854	T	0.046	0.19680	T	9	0.10664967	0.19773	T	0.003971	0.09400	T	0.021	0.04004	.	.	0.0986583533028	0.09354	0.17703511721202211	0.17622	0.085900391515	0.09707	.	.	.	.	.	.	-0.47977	0.00741	T	-0.926933	0.00345	T	0.15306082367897	0.17345	T	0.714029	0.35027	T	.	.	.	.	.	.	.	.	-2.918	0.09324	T	.	.	0.099	0.18247	B	.;.;.	.;.;.	1.416818	0.18331	13.68	0.99268186498303135	0.57457	0.22113	0.21636	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986653019121	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.635	0.16895	0.918000	0.28299	0.017000	0.13531	0.596000	0.33519	0.999000	0.42656	0.000000	0.08366	0.033000	0.13494	0.0:0.0:0.6213:0.3787	4.527	0.11390	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.011073	0.020408	0.009276	0.003953	0.000000	0.035294	0.013274	0.005263	0.2857	7932.13	432	chrX	55146173	.	G	A	7932.13	.	AC=4;AF=0.286;AN=14;BaseQRankSum=1.6;DP=3372;ExcessHet=2.5225;FS=1.254;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=5.16;ReadPosRankSum=0.486;SOR=0.613	GT:AD:DP:GQ:PL	0/1:31,4:35:55:55,0,832	3	0	4	0
chrX	55146197	55146197	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166699:exon3:c.C238T:p.Q80X,FAM104B:NM_001166700:exon3:c.C238T:p.Q80X,FAM104B:NM_001166701:exon3:c.C235T:p.Q79X,FAM104B:NM_001166702:exon3:c.C226T:p.Q76X,FAM104B:NM_001166703:exon3:c.C232T:p.Q78X,FAM104B:NM_138362:exon3:c.C235T:p.Q79X	.	397	483	637	5	0	647	0.401116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0037	0.0002	0.0034	0.0004	0.0003	0	0.0012	0.0033426	87	26028	rs113263757	2.052e-05	0.0007	3.012e-05	0	0.0002	1.343e-05	1.147e-05	5.37e-05	3.17e-05	0.0002	0	0	0.0001	0	0	1.458e-05	4.432e-05	1.939e-05	0	5.238e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.066869	0.21780	U	0.325359	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.281	0.36359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166988	0.70845	D	0.00208969	0.70471	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.;Tolerant;.;.	High;.;High;.;.	5.479427	0.91365	32	0.96222129513840093	0.29091	0.25851	0.22822	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	1.881000	0.39273	1.530000	0.27153	0.596000	0.33519	0.820000	0.29989	0.004000	0.18990	0.022000	0.11911	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.038244	0.034014	0.051948	0.011858	0.000000	0.058824	0.026549	0.036842	0.2857	6567.13	367	chrX	55146197	.	G	A	6567.13	.	AC=4;AF=0.286;AN=14;BaseQRankSum=2.82;DP=3136;ExcessHet=2.5225;FS=1.3;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=4.89;ReadPosRankSum=1.02;SOR=0.703	GT:AD:DP:GQ:PL	0/1:30,4:34:58:58,0,848	3	0	4	0
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N,FAM104B:NM_001166700:exon3:c.G223A:p.D75N,FAM104B:NM_001166701:exon3:c.G220A:p.D74N,FAM104B:NM_001166702:exon3:c.G211A:p.D71N,FAM104B:NM_001166703:exon3:c.G217A:p.D73N,FAM104B:NM_138362:exon3:c.G220A:p.D74N	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00302221843962	.	0.0013245	0.0001	0.0014	0	0	0	2.118e-05	0	0	0.0081067	211	26028	rs1047042	4.61e-06	4.563e-06	5.457e-06	2.843e-06	3.873e-05	1.35e-06	9.8e-07	6.25e-06	2.34e-06	3.873e-05	0	5.196e-05	0	0	0	1.202e-06	0	3.766e-05	9.039e-06	8.741e-06	1.287e-05	0	9.612e-05	0	0	.	.	0	0	9.612e-05	0	0	0	0	0	0	0	0.675	0.04495	T	1.0	0.06345	T	0.003	0.11197	B	0.0	0.04355	B	0.171170	0.17370	N	0.505297	1	0.08975	P	-0.49	0.02651	N	1.04	0.40218	T	0.87	0.01688	N	0.132	0.13626	-1.0454	0.15709	T	0.035	0.15160	T	9	0.0060353875	0.00136	T	0.003022	0.06487	T	0.012	0.01476	0.247	0.18293	0.0806252709748	0.07271	0.0651596601341745	0.06454	0.0775316632676	0.08717	0.25642067194	0.04473	T	0.008956	0.08187	T	-0.596363	0.00153	T	-1.09441	0.00031	T	0.0048729239977625	0.00052	T	0.519848	0.16911	T	0.03745953	0.04805	0.041539483	0.04745	0.03745953	0.04805	0.041539483	0.04745	-3.393	0.14963	T	.	.	0.058	0.00614	B	.;.;.;.;.	.;.;.;.;.	-0.711233	0.01295	0.069	0.1342819324597182	0.00264	0.00118	0.00744	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988775956904	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.04	0.09555	0.059000	0.14199	-2.996000	0.03156	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.4679:0.0:0.5321	4.225	0.10030	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	71907.1	363	chrX	55146212	.	C	T	71907.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=1.54;DP=3046;ExcessHet=14.2834;FS=0;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.81;ReadPosRankSum=0.683;SOR=0.621	GT:AD:DP:GQ:PL	0/1:6,29:35:44:789,0,44	0	0	7	0
chrX	55146247	55146247	G	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C188G:p.P63R,FAM104B:NM_001166700:exon3:c.C188G:p.P63R,FAM104B:NM_001166701:exon3:c.C185G:p.P62R,FAM104B:NM_001166702:exon3:c.C176G:p.P59R,FAM104B:NM_001166703:exon3:c.C182G:p.P61R,FAM104B:NM_138362:exon3:c.C185G:p.P62R	.	398	590	530	4	0	538	0.313155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0130273709953	.	.	.	.	.	.	.	.	.	.	0.0032657	85	26028	rs111638770	9.115e-07	9.107e-07	1.361e-06	0	1.848e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.848e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.72224	D	0.752	0.77913	P	0.071	0.79672	B	0.181519	0.17089	U	0.482281	1	0.18198	N	1.79	0.46772	L	0.49	0.55775	T	-6.46	0.91956	D	0.329	0.36989	-0.9561	0.39898	T	0.213	0.57334	T	10	0.25765532	0.43183	T	0.013027	0.32109	T	0.133	0.36157	0.439	0.49321	0.176091768786	0.17195	0.15725273701375614	0.15646	0.462644719079	0.45794	0.299729704857	0.10360	T	0.09323	0.39168	T	-0.104812	0.35627	T	-0.388332	0.34746	T	0.953682541847229	0.64085	D	0.80372	0.51656	T	0.38991144	0.60026	0.48550862	0.70220	0.38991144	0.60026	0.48550862	0.70221	-3.385	0.15177	T	.	.	0.146	0.32275	B	.;.;.;.;.	.;.;.;.;.	2.836954	0.37416	20.5	0.99573153193770736	0.72501	0.41324	0.26632	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	2.239000	0.42728	2.405000	0.32612	0.596000	0.33519	0.999000	0.42656	0.987000	0.30940	0.973000	0.55318	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.013879	0.020408	0.018553	0.003953	0.000000	0.023529	0.013274	0.005263	0.2857	5365.13	241	chrX	55146247	.	G	C	5365.13	.	AC=4;AF=0.286;AN=14;BaseQRankSum=0.165;DP=2350;ExcessHet=2.5225;FS=0.657;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=5.83;ReadPosRankSum=-0.657;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,4:31:87:0|1:55146247_G_C:87,0,1101:55146247	3	0	4	0
chrX	55146252	55146252	-	T	exonic	FAM104B	.	frameshift insertion	FAM104B:NM_001166699:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166700:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166701:exon3:c.179_180insA:p.S60Rfs*13,FAM104B:NM_001166702:exon3:c.170_171insA:p.S57Rfs*13,FAM104B:NM_001166703:exon3:c.176_177insA:p.S59Rfs*13,FAM104B:NM_138362:exon3:c.179_180insA:p.S60Rfs*13	.	390	569	526	3	34	566	0.318563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	5298.09	241	chrX	55146252	.	A	AT	5298.09	.	AC=4;AF=0.286;AN=14;BaseQRankSum=1.55;DP=2302;ExcessHet=2.5225;FS=0.655;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=5.98;ReadPosRankSum=-1.221;SOR=0.794	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,4:31:87:0|1:55146247_G_C:87,0,1101:55146247	3	0	4	0
chrX	55146254	55146254	T	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A181G:p.S61G,FAM104B:NM_001166700:exon3:c.A181G:p.S61G,FAM104B:NM_001166701:exon3:c.A178G:p.S60G,FAM104B:NM_001166702:exon3:c.A169G:p.S57G,FAM104B:NM_001166703:exon3:c.A175G:p.S59G,FAM104B:NM_138362:exon3:c.A178G:p.S60G	.	431	15	1050	26	0	1102	0.973498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0041360361776	.	.	0	0	0	0	0	0	0	0	0.0095666	249	26028	rs1047037	9.142e-07	4.651e-05	1.362e-06	0	1.191e-06	0	0	.	.	0	0	0	0	0	0	1.191e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.115	0.36630	T	0.18	0.29046	B	0.013	0.26930	B	0.022656	0.26593	N	0.266251	1	0.08975	N	1.125	0.28843	L	0.62	0.53302	T	-3.25	0.65972	D	0.165	0.17691	-1.0460	0.15534	T	0.083	0.32556	T	10	0.08577216	0.14513	T	0.004136	0.09900	T	0.075	0.21907	0.066	0.00312	0.141422826196	0.13715	0.08695167493373998	0.08629	0.0811463258042	0.09130	0.299347400665	0.10303	T	0.051814	0.28986	T	-0.403148	0.02207	T	-0.816871	0.01517	T	0.062755441338216	0.07595	T	0.529347	0.19916	T	0.15294263	0.34692	0.18436645	0.41484	0.15294263	0.34692	0.18436645	0.41484	-4.147	0.26024	T	.	.	0.074	0.04932	B	.;.;.;.;.	.;.;.;.;.	0.505601	0.08746	5.521	0.88816084291515585	0.18278	0.01111	0.04064	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999988486351367	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-0.917	0.09952	0.342000	0.19669	0.018000	0.13546	0.587000	0.30956	0.001000	0.13787	0.000000	0.08366	0.925000	0.46118	0.0:0.4736:0.0:0.5264	4.198	0.09911	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	46390.1	239	chrX	55146254	.	T	C	46390.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.127;DP=2318;ExcessHet=14.2834;FS=2.658;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.82;ReadPosRankSum=-0.102;SOR=0.514	GT:AD:DP:GQ:PL	0/1:11,18:29:99:466,0,284	0	0	7	0
chrX	55146256	55146256	G	-	exonic	FAM104B	.	frameshift deletion	FAM104B:NM_001166699:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166700:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166701:exon3:c.176delC:p.A59Efs*8,FAM104B:NM_001166702:exon3:c.167delC:p.A56Efs*8,FAM104B:NM_001166703:exon3:c.173delC:p.A58Efs*8,FAM104B:NM_138362:exon3:c.176delC:p.A59Efs*8	.	387	620	513	2	0	517	0.294252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	5246.09	181	chrX	55146255	.	TG	T	5246.09	.	AC=4;AF=0.286;AN=14;BaseQRankSum=0.588;DP=2026;ExcessHet=2.5225;FS=0.657;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=6.16;ReadPosRankSum=-1.383;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,4:30:90:0|1:55146247_G_C:90,0,1080:55146247	3	0	4	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L,FAM104B:NM_001166700:exon3:c.A160C:p.I54L,FAM104B:NM_001166701:exon3:c.A157C:p.I53L,FAM104B:NM_001166702:exon3:c.A148C:p.I50L,FAM104B:NM_001166703:exon3:c.A154C:p.I52L,FAM104B:NM_138362:exon3:c.A157C:p.I53L	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0118030854457	.	.	1.142e-05	0	0	0	0	2.088e-05	0	0	0.0196828	3043	154602	rs1047034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.051	0.47828	T	0.105	0.26966	B	0.068	0.39904	B	0.152569	0.17919	U	0.451659	1	0.08975	N	1.955	0.52871	M	0.27	0.59176	T	-1.83	0.45042	N	0.551	0.57690	-0.8632	0.51032	T	0.155	0.48687	T	10	0.1871016	0.34206	T	0.011803	0.29782	T	0.098	0.28162	0.189	0.09907	0.0884992946249	0.08302	0.12338101866159702	0.12264	0.0928677804986	0.10486	0.449103206396	0.31821	T	0.163737	0.50891	T	-0.214808	0.18708	T	-0.546333	0.17678	T	0.224603921175003	0.21691	T	0.758424	0.38228	T	0.50850886	0.67592	0.29124478	0.55149	0.50850886	0.67593	0.29124478	0.55148	-2.996	0.10138	T	.	.	0.123	0.25689	B	.;.;.;.;.	.;.;.;.;.	1.130701	0.15173	11.64	0.8192711395344332	0.13930	0.34538	0.25091	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999989777015944	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.26	0.08892	0.742000	0.25884	-6.329000	0.01429	-0.214000	0.08267	1.000000	0.71638	0.000000	0.08366	0.065000	0.16320	0.0:0.5197:0.0:0.4803	4.529	0.11402	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.000688	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.5	45507.1	184	chrX	55146275	.	T	G	45507.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.077;DP=1901;ExcessHet=14.2834;FS=7.332;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.06;ReadPosRankSum=-2.887;SOR=0.338	GT:AD:DP:GQ:PL	0/1:6,18:24:99:449,0,105	0	0	7	0
chrX	72206936	72206936	C	-	exonic	ERCC6L	.	frameshift deletion	ERCC6L:NM_017669:exon2:c.1831delG:p.E611Kfs*14,ERCC6L:NM_001009954:exon3:c.1462delG:p.E488Kfs*14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	40.4	37	chrX	72206935	.	TC	T	40.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.967;DP=233;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.04;ReadPosRankSum=-1.501;SOR=0.368	GT:AD:DP:GQ:PL	0/1:8,2:10:51:51,0,291	6	0	1	0
chrX	74591904	74591904	A	G	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.T1411C:p.S471P,RLIM:NM_183353:exon5:c.T1411C:p.S471P	Mental retardation, X-linked 61, X-linked recessive	9	1217	293	0	3	296	0.107444	.	.	.	706313	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.240	.	.	.	0.0029	0.0116	0.0005	0	0.0003	0.0029	0	0.0019	0.0113453	1754	154602	rs201164156	0.0008	0.0027	0.0011	0	0.0013	0.0007	0.0007	0.0009	0.0008	0.0013	0.0003	0.0003	0.0002	0.0021	0.0008	0.0008	0.0009	0.0001	0.0005	0.0047	0.0008	0	0.0009	0.0004	0.0004	0.0004	0.0003	0.0006	0	0.0005	0.0004	0.0009	0.0005	0	0.0005	0.0007	0.0004	0.21	0.19639	T	0.328	0.18675	T	0.842	0.46562	P	0.1	0.30674	B	0.514165	0.11812	U	0.638142	1	0.08975	N	1.7	0.43825	L	-1.96	0.85091	D	-0.25	0.11008	N	0.207	0.22998	-0.7951	0.55432	T	0.216	0.57836	T	10	0.006244242	0.00141	T	.	.	.	0.240	0.54500	.	.	.	.	0.4665592874844735	0.46574	0.934645105114	0.71975	0.607906699181	0.54020	T	0.132362	0.46240	T	-0.0295646	0.47480	T	-0.280244	0.46779	T	0.0105822094544231	0.00148	T	0.430157	0.11673	T	0.09892091	0.23338	0.13853694	0.33082	0.09892091	0.23338	0.13853694	0.33082	-7.284	0.56081	T	0.3542269034747019	0.45119	0.098	0.16231	B	.;.	.;.	0.643466	0.10120	6.865	0.20867452940731573	0.00770	0.09317	0.15097	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.920848692020125	0.26649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.66	0.088	0.13764	0.990000	0.29242	2.406000	0.32617	0.756000	0.94297	0.212000	0.24446	0.201000	0.23571	0.004000	0.06068	0.5962:0.4038:0.0:0.0	3.724	0.07997	99	0.95913	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.100000	0.136054	0.068646	0.102767	0.071429	0.058824	0.132743	0.089474	0.2857	3271.13	272	chrX	74591904	.	A	G	3271.13	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.883;DP=749;ExcessHet=2.5225;FS=3.458;MLEAC=4;MLEAF=0.286;MQ=57.99;MQRankSum=-11.57;QD=5.1;ReadPosRankSum=4.34;SOR=0.404	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,2:15:45:0|1:74591902_T_A:45,0,540:74591902	3	0	4	0
chrX	100914708	100914708	C	T	exonic	XKRX	.	stopgain	XKRX:NM_212559:exon3:c.G980A:p.W327X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.14e-05	0	0	0	0	0	0	9.885e-05	1.29e-05	2	154602	rs746362606	9.106e-07	9.105e-07	0	2.75e-06	1.847e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.245	0.27673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.517502	0.94815	D	0.655873	0.98747	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.257174	0.97352	37	0.99677638716432504	0.79043	0.97656	0.76199	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999999995634	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.74	5.74	0.90070	5.832000	0.69048	7.705000	0.66497	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.890	0.92368	25	0.98345	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	67.44	36	chrX	100914708	.	C	T	67.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.465;DP=220;ExcessHet=0;FS=3.68;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=-2.189;SOR=0.061	GT:AD:DP:GQ:PL	0/1:3,4:7:78:78,0,89	6	0	1	0
chrX	104252795	104252795	T	-	exonic	ESX1	.	frameshift deletion	ESX1:NM_153448:exon3:c.540delA:p.D181Tfs*21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	52.4	33	chrX	104252794	.	CT	C	52.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=202;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=1.38;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:63:63,0,63	6	0	1	0
chrX	107981733	107981733	G	C	exonic	TEX13B	.	nonsynonymous SNV	TEX13B:NM_031273:exon2:c.C395G:p.T132S	.	426	1040	29	27	0	83	0.0383726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	0.0041	0.00715232	0.0107	0.0017	0.0012	0.0002	0.0208	0.0093	0.0230	0.0409	0.0098964	1530	154602	rs144538520	0.0074	0.0074	0.0067	0.0090	0.0357	0.0073	0.0072	0.0343	0.0338	0.0008	0.0011	0.0011	6.626e-05	0.0207	0.0136	0.0059	0.0069	0.0357	0.0059	0.0060	0.0054	0.0071	0.0334	0.0055	0.0054	0.0277	0.0256	0.0008	0	0.0027	0.0008	0.0003	0.0220	0.0183	0.0070	0.0046	0.0334	0.055	0.38407	T	0.072	0.43344	T	0.473	0.36591	P	0.19	0.36341	B	.	.	.	.	1	0.08975	N	1.7	0.43825	L	.	.	.	-1.94	0.45042	N	0.064	0.03613	-1.0435	0.16265	T	0.038	0.16505	T	8	0.0036247373	0.00066	T	.	.	.	0.034	0.08419	0.141	0.04462	.	.	0.05130291475236664	0.05072	0.454918704517	0.45175	0.351358294487	0.18122	T	0.014065	0.12045	T	-0.758781	0.00015	T	-0.836951	0.01145	T	0.004441021523127	0.00047	T	0.354465	0.08000	T	0.07995067	0.18293	0.07362963	0.16021	0.07995067	0.18293	0.07362963	0.16021	-6.018	0.46431	T	.	.	0.203	0.42720	B	.	.	-0.130754	0.03462	0.642	0.62979613999287676	0.07103	0.05061	0.10852	N	AEFBI	.	.	.	.	.	.	.	.	.	0.00245125484351227	0.09445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.89	0.013	0.13417	0.707000	0.25379	-0.649000	0.08038	-0.139000	0.12461	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.3637:0.0:0.4321:0.2042	2.812	0.05111	18	0.98631	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.011042	0.000000	0.007421	0.015810	0.000000	0.000000	0.004425	0.036842	0.07143	107.44	34	chrX	107981733	.	G	C	107.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=237;ExcessHet=0;FS=3.31;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.91;ReadPosRankSum=0.842;SOR=0.105	GT:AD:DP:GQ:PL	0/1:2,4:6:68:118,0,68	6	0	1	0
chrX	118392690	118392690	T	G	exonic	WDR44	.	nonsynonymous SNV	WDR44:NM_001184966:exon3:c.T170G:p.L57W,WDR44:NM_001184965:exon4:c.T245G:p.L82W,WDR44:NM_019045:exon4:c.T245G:p.L82W	.	435	1086	1	0	0	1	0.000460193	.	.	.	3933232	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.216	0.123906867387	.	.	1.153e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs768336272	7.292e-06	7.284e-06	6.806e-06	8.277e-06	7.414e-05	3.14e-06	2.27e-06	2.529e-05	1.465e-05	0	0	0	0	0	0	2.377e-06	4.344e-05	7.414e-05	1.786e-05	1.739e-05	1.285e-05	2.926e-05	0.0004	2.97e-06	1.11e-06	.	.	0	0	9.521e-05	0	0	0	0	0	0	0.0004	0.037	0.43708	D	0.063	0.45110	T	0.981	0.59675	D	0.645	0.52270	P	0.024195	0.26306	N	0.348037	0.659577	0.30461	N	1.795	0.47270	L	-1.07	0.76948	T	-1.99	0.45949	N	0.541	0.56833	-0.4021	0.71960	T	0.327	0.69564	T	10	0.14754722	0.27956	T	0.123907	0.80516	D	0.216	0.50959	0.137	0.04097	0.430026717358	0.42623	0.2566185863851346	0.25575	0.778151250384	0.65137	0.357324570417	0.18995	T	0.240414	0.60874	T	-0.141087	0.29717	T	-0.284072	0.46386	T	0.440134386562264	0.30434	T	0.827217	0.49094	T	0.091508105	0.21444	0.17818081	0.40470	0.091508105	0.21443	0.17818081	0.40470	-7.449	0.57561	T	.	.	0.150	0.33273	B	.;.;.	.;.;.	3.665792	0.52099	23.2	0.95419256017515031	0.26896	0.96533	0.69615	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.945084719351446	0.27645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.84	4.66	0.57857	2.449000	0.44592	2.877000	0.35304	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1666:0.0:0.8334	7.901	0.28894	738	0.53389	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.000688	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.005263	0.07143	81.44	35	chrX	118392690	.	T	G	81.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.72;DP=188;ExcessHet=0;FS=2.632;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.4;ReadPosRankSum=1.83;SOR=0.991	GT:AD:DP:GQ:PL	0/1:8,3:11:92:92,0,200	6	0	1	0
chrX	153347781	153347781	A	-	exonic	ZNF275	.	frameshift deletion	ZNF275:NM_001367757:exon4:c.1096delA:p.K366Sfs*9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	34.4	36	chrX	153347780	.	CA	C	34.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.493;DP=239;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.44;ReadPosRankSum=-0.282;SOR=0.693	GT:AD:DP:GQ:PL	0/1:8,2:10:45:45,0,258	6	0	1	0
chrX	155089271	155089271	A	G	exonic	BRCC3	.	nonsynonymous SNV	BRCC3:NM_001018055:exon6:c.A412G:p.T138A,BRCC3:NM_001242640:exon6:c.A415G:p.T139A,BRCC3:NM_024332:exon6:c.A412G:p.T138A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.697	0.0896512853969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.006	0.74150	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999997	0.81001	D	2.83	0.82355	M	0.22	0.59851	T	-4.34	0.82221	D	0.743	0.81162	-0.0964	0.80181	T	0.414	0.76116	T	10	0.9537951	0.94728	D	0.089651	0.75367	D	0.697	0.89053	0.874	0.96529	0.872298162247	0.87105	0.9437853015304329	0.94360	2.46387727901	0.97434	0.768926858902	0.77263	T	0.394485	0.75361	T	0.38895	0.89264	D	0.320924	0.89128	D	0.996612846851349	0.89714	D	0.929907	0.87711	D	0.8814142	0.89783	0.8443836	0.91129	0.8814142	0.89784	0.8443836	0.91129	-12.109	0.85825	D	.	.	0.997	0.97755	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.750548	0.76703	26.6	0.99817229454067924	0.90061	0.95380	0.64494	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999908998427573	0.45458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.78	4.78	0.60666	7.383000	0.79010	10.950000	0.84394	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	11.532	0.49868	465	0.78421	.;.;.;JAB1/MPN/MOV34 metalloenzyme domain|MPN domain|JAB1/MPN/MOV34 metalloenzyme domain;JAB1/MPN/MOV34 metalloenzyme domain|MPN domain|JAB1/MPN/MOV34 metalloenzyme domain;JAB1/MPN/MOV34 metalloenzyme domain|MPN domain|JAB1/MPN/MOV34 metalloenzyme domain;JAB1/MPN/MOV34 metalloenzyme domain|MPN domain|JAB1/MPN/MOV34 metalloenzyme domain;JAB1/MPN/MOV34 metalloenzyme domain|MPN domain|JAB1/MPN/MOV34 metalloenzyme domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chrX	155089271	.	A	G	33.22	.	AC=2;AF=0.143;AN=14;DP=167;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	0