Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	Maybe_Pathogenic	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	SIFT_score	SIFT_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_pred	LRT_score	LRT_pred	MutationTaster_score	MutationTaster_pred	MutationAssessor_score	MutationAssessor_pred	FATHMM_score	FATHMM_pred	RadialSVM_score	RadialSVM_pred	LR_score	LR_pred	VEST3_score	CADD_raw	CADD_phred	GERP++_RS	phyloP46way_placental	phyloP100way_vertebrate	SiPhy_29way_logOdds	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.1	SIFT_converted_rankscore	SIFT_pred.1	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score.1	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred.1	Polyphen2_HVAR_score.1	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred.1	LRT_score.1	LRT_converted_rankscore	LRT_pred.1	LRT_Omega	MutationTaster_score.1	MutationTaster_converted_rankscore	MutationTaster_pred.1	MutationAssessor_score.1	MutationAssessor_rankscore	MutationAssessor_pred.1	FATHMM_score.1	FATHMM_converted_rankscore	FATHMM_pred.1	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.1	CADD_raw_rankscore	CADD_phred.1	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.1	GERP++_RS_rankscore	phyloP100way_vertebrate.1	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.1	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	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES961	WT	HH	HZ	NC
chr1	1752908	1752908	-	CCTCCT	exonic	NADK	.	nonframeshift insertion	NADK:NM_001198995:exon10:c.1240_1241insAGGAGG:p.E413_G414insEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0040	0.0013	0.0013	0.0016	0	0.0018	0.0093	0.0161	0.0003074	8	26028	rs150880809	0.0039	0.0041	0.0034	0.0044	0.0211	0.0038	0.0038	0.0203	0.0200	0.0040	0.0042	0.0015	0.0026	0.0003	0.0130	0.0028	0.0048	0.0211	0.0044	0.0045	0.0041	0.0047	0.0232	0.0041	0.0040	0.0197	0.0184	0.0042	0.0111	0.0037	0.0012	0.0042	0.0006	0.0171	0.0038	0.0107	0.0232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22075.32	36	chr1	1752908	.	C	CCCT,CCCTCCT	22075.32	.	AC=14,1;AF=0.333,0.024;AN=42;BaseQRankSum=-6.990e-01;DP=1313;ExcessHet=0.1361;FS=0.555;InbreedingCoeff=0.2741;MLEAC=14,1;MLEAF=0.333,0.024;MQ=59.91;MQRankSum=0.00;QD=26.12;ReadPosRankSum=0.088;SOR=0.757	GT:AD:DP:GQ:PL	1/2:0,38,33:71:99:3140,1367,1215,1576,0,1458	10	3	7	0
chr1	2504802	2504814	GGGCCTCCCGGGA	-	exonic	PLCH2	.	frameshift deletion	PLCH2:NM_014638:exon22:c.3840_3852del:p.L1282Hfs*9,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3146.94	41	chr1	2504801	.	TGGGCCTCCCGGGA	T	3146.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=908;ExcessHet=0.0000;FS=1.992;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.84;ReadPosRankSum=-9.580e-01;SOR=0.903	GT:AD:DP:GQ:PL	0/1:85,82:167:99:3161,0,3310	20	0	1	0
chr1	3836493	3836493	A	C	splicing	CEP104	NM_014704:exon10:c.1317+2T>G	.	.	Joubert syndrome 25, Autosomal recessive	.	.	.	.	.	.	.	.	1.0000	0.96	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.069	12.87	5.68	2.154	8.733	15.110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.735e-05	6.102e-05	3.846e-05	3.617e-05	0.0004	2.688e-05	2.371e-05	0.0002	0.0002	7.327e-05	7.78e-05	0.0003	0	0	0	1.969e-05	5.547e-05	0.0004	5.197e-05	0.0006	0.0001	0	0.0002	0	0	.	.	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.591722	0.72633	25.9	0.99213772171432246	0.55685	0.99525	0.97065	D	AEFDBI	.	.	.	1.04252772716544	0.96910	15.31459	0.857870838013166	0.93466	12.06219	0.999999134379761	0.74766	0.163922	0.03765	0	0.156668	0.03792	0	0.060301	0.00762	0	0.117559	0.03655	0	0.948117	0.61440	5.68	5.68	0.88021	8.725000	0.91200	10.879000	0.84044	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.393000	0.26625	1.0:0.0:0.0:0.0	15.110	0.72020	982	0.03397	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2308	383.65	28	chr1	3836493	.	A	C	383.65	.	AC=6;AF=0.231;AN=26;BaseQRankSum=-2.212e+00;DP=963;ExcessHet=1.7912;FS=18.016;InbreedingCoeff=-0.3299;MLEAC=8;MLEAF=0.308;MQ=60.00;MQRankSum=0.00;QD=1.86;ReadPosRankSum=1.90;SOR=2.259	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:31,10:41:43:.:.:43,0,722	7	0	6	8
chr1	9931966	9931966	C	G	exonic	LZIC	.	nonsynonymous SNV	LZIC:NM_001316973:exon7:c.G439C:p.A147P	.	.	436	1070	15	1	0	17	0.00788132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.001	B	0.149	N	0.998	N	-1.3	N	0.98	T	-1.036	T	0.031	T	0.149	0.031	4.176	3.44	2.700	0.170	10.651	0.118	0.00193986540094	0.0010	0.000998403	0.0013	0.0002	0.0012	0	0.0002	0.0020	0	0.0007	0.0013066	202	154602	rs146375448	0.0014	0.0014	0.0014	0.0014	0.0313	0.0013	0.0013	0.0275	0.0261	0.0011	0.0013	0.0067	0	5.621e-05	0.0313	0.0012	0.0026	0.0010	0.0012	0.0012	0.0012	0.0013	0.0016	0.0011	0.0010	0.0012	0.0011	0.0005	0	0.0016	0.0060	0	9.434e-05	0.0272	0.0015	0.0033	0.0006	1.0	0.00964	T	0.693	0.05863	T	0.0	0.02946	B	0.0	0.01387	B	0.148607	0.18043	N	0.625117	0.997886	0.22461	N	-0.55	0.02420	N	0.92	0.44461	T	3.05	0.00134	N	0.21	0.23380	-1.0363	0.18450	T	0.031	0.13374	T	9	0.0035844147	0.00065	T	0.00194	0.03456	T	0.118	0.32913	.	.	0.211220785272	0.20719	0.33437238083531406	0.33350	0.313330889127	0.33626	0.393143922091	0.24111	T	0.010301	0.09311	T	-0.573253	0.00212	T	-0.615229	0.11565	T	0.0124018441885884	0.00203	T	0.767723	0.39623	T	0.082922034	0.19124	0.15248495	0.35874	0.082922034	0.19124	0.15248495	0.35873	-3.587	0.17669	T	.	.	0.082	0.08560	B	.;.;.;.	.;.;.;.	1.838094	0.23356	15.98	0.34679313956136959	0.02135	0.43629	0.27140	N	AEFDBI	0.179674	0.30697	N	-0.52413132820575	0.21302	1.129474	-0.285736685138185	0.28568	1.593844	0.254789281639857	0.18721	0.732398	0.92422	0	0.644132	0.57912	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.42	3.44	0.38486	0.202000	0.17094	0.364000	0.17606	0.596000	0.33519	0.454000	0.26597	0.033000	0.21346	0.998000	0.85391	0.1167:0.6093:0.274:0.0	10.651	0.44840	751	0.51694	Beta-catenin-interacting ICAT domain;Beta-catenin-interacting ICAT domain;Beta-catenin-interacting ICAT domain;Beta-catenin-interacting ICAT domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1049.98	40	chr1	9931966	.	C	G	1049.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.680e-01;DP=778;ExcessHet=0.0000;FS=0.883;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.64;ReadPosRankSum=0.716;SOR=0.859	GT:AD:DP:GQ:PL	0/1:33,44:77:99:1064,0,743	20	0	1	0
chr1	10326244	10326244	G	C	exonic	KIF1B	.	nonsynonymous SNV	KIF1B:NM_015074:exon25:c.G2671C:p.E891Q	Pheochromocytoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.989	D	0.969	D	0.000	D	1.000	D	1.355	L	-0.82	T	-0.170	T	0.498	T	0.639	3.746	19.02	5.6	2.633	9.476	19.620	0.290	0.0482880192528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.37326	T	0.212	0.26549	T	0.989	0.62824	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.765	0.45800	L	-0.82	0.75001	T	-1.39	0.36787	N	0.734	0.75009	-0.1696	0.78438	T	0.498	0.81014	T	10	0.6018709	0.66958	D	0.048288	0.63305	D	0.290	0.60924	0.219	0.14078	0.749556767029	0.74729	0.6982153262634863	0.69762	1.23630627734	0.81476	0.814065039158	0.84115	D	0.345935	0.71426	T	0.119299	0.66301	D	-0.0664114	0.65882	T	0.84802782535553	0.49996	D	0.984102	0.94582	D	0.2858203	0.51601	0.27822828	0.53781	0.2858203	0.51601	0.27822828	0.53780	-10.724	0.78968	D	.	.	0.374	0.62311	A	.;.;.;.;.	.;.;.;.;.	5.279577	0.88650	29.7	0.99699751426161221	0.80522	0.99370	0.95141	D	AEFGBI	0.891753	0.82802	D	0.588017507858634	0.72425	5.803883	0.669916851634812	0.80102	7.224664	0.999999999999494	0.74766	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	5.6	5.6	0.84997	9.602000	0.97623	11.794000	0.96459	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.620	0.95646	229	0.91079	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3095	11777.12	34	chr1	10326244	.	G	C	11777.12	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-6.149e+00;DP=3631;ExcessHet=11.8493;FS=235.795;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=60.00;MQRankSum=0.00;QD=4.35;ReadPosRankSum=0.590;SOR=13.423	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,65:212:99:0|1:10326244_G_C:1466,0,5156:10326244	8	0	13	0
chr1	10461512	10461512	C	T	exonic	DFFA	.	nonsynonymous SNV	DFFA:NM_004401:exon6:c.G974A:p.R325Q,	.	.	430	1090	2	0	0	2	0.00091659	.	.	706524	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.206	B	0.022	B	0.031	N	1.000	N	2.28	M	.	.	-0.984	T	0.067	T	0.158	3.593	18.30	2.42	0.249	2.000	9.322	0.178	.	0.0003	0.00559105	0.0028	0.0004	0.0015	0.0335	0	6.247e-05	0.0035	0.0010	0.0025549	395	154602	rs140269107	0.0014	0.0014	0.0014	0.0015	0.0426	0.0014	0.0014	0.0409	0.0403	0.0007	0.0014	0	0.0426	0	0.0005	5.486e-05	0.0029	0.0011	0.0017	0.0017	0.0016	0.0018	0.0320	0.0015	0.0014	0.0281	0.0265	0.0008	0	0.0019	0	0.0320	0	0	8.822e-05	0.0057	0.0019	0.0	0.91255	D	0.0	0.92824	D	0.206	0.29860	B	0.022	0.19653	B	0.031240	0.01733	N	2.302060	1	0.08975	N	2.395	0.69210	M	.	.	.	-1.19	0.30346	N	0.096	0.07673	-0.9838	0.34116	T	0.067	0.27640	T	9	0.0036945045	0.00068	T	.	.	.	0.178	0.44724	.	.	0.272639205421	0.26888	0.2001635971352172	0.19933	0.399156638136	0.40951	0.250007003546	0.03768	T	0.051237	0.28823	T	-0.446513	0.01184	T	-0.37014	0.36871	T	0.0793014743208084	0.09897	T	0.649735	0.26051	T	0.10762776	0.25449	0.12082042	0.29156	0.10762776	0.25449	0.12082042	0.29155	-5.444	0.41340	T	.	.	0.103	0.18580	B	.	.	2.769186	0.36341	20.2	0.99585259835191531	0.73277	0.79534	0.39430	D	AEFBI	0.099339	0.19998	N	-0.574104841890009	0.19733	1.035144	-0.598164920486375	0.19541	1.048877	0.111165312747871	0.16652	0.744818	0.98587	0	0.702456	0.74545	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.28	2.42	0.28720	2.316000	0.43421	1.428000	0.26422	-0.237000	0.07570	0.996000	0.39380	0.656000	0.25990	0.496000	0.28927	0.0:0.7712:0.0:0.2288	9.322	0.37130	344	0.85734	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1055.98	37	chr1	10461512	.	C	T	1055.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.361;DP=784;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.08;ReadPosRankSum=0.506;SOR=0.709	GT:AD:DP:GQ:PL	0/1:34,41:75:99:1070,0,880	20	0	1	0
chr1	10639087	10639098	TCGTCGTCGTCC	-	exonic	CASZ1	.	nonframeshift deletion	CASZ1:NM_001079843:exon21:c.5124_5135del:p.E1708_D1711del,	.	.	549	931	4	1	37	43	0.00321199	.	.	695942	CASZ1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0055	.	0.0073	0.0067	0.0030	0.0057	0.0025	0.0096	0.0065	0.0059	0.0002689	7	26028	rs770782033	0.0070	0.0056	0.0072	0.0068	0.0076	0.0069	0.0068	0.0074	0.0073	0.0018	0.0010	0.0007	0.0035	0.0018	0.0032	0.0076	0.0058	0.0066	0.0058	0.0057	0.0062	0.0054	0.0082	0.0055	0.0053	0.0076	0.0074	0.0023	0.0011	0.0064	0.0016	0.0058	0.0016	0.0165	0.0082	0.0097	0.0078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	307.44	13	chr1	10639086	.	GTCGTCGTCGTCC	G,*	307.44	.	AC=1,2;AF=0.025,0.050;AN=40;BaseQRankSum=0.869;DP=416;ExcessHet=0.3300;FS=1.130;InbreedingCoeff=-0.0911;MLEAC=1,2;MLEAF=0.025,0.050;MQ=60.00;MQRankSum=0.00;QD=6.99;ReadPosRankSum=1.92;SOR=0.527	GT:AD:DP:GQ:PL	0/2:9,0,6:15:99:225,252,630,0,378,360	17	0	1	1
chr1	10639086	10639098	GTCGTCGTCGTCC	0	exonic	CASZ1	.	.	.	.	.	549	931	4	1	37	43	0.00321199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	307.44	13	chr1	10639086	.	GTCGTCGTCGTCC	G,*	307.44	.	AC=1,2;AF=0.025,0.050;AN=40;BaseQRankSum=0.869;DP=416;ExcessHet=0.3300;FS=1.130;InbreedingCoeff=-0.0911;MLEAC=1,2;MLEAF=0.025,0.050;MQ=60.00;MQRankSum=0.00;QD=6.99;ReadPosRankSum=1.92;SOR=0.527	GT:AD:DP:GQ:PL	0/2:9,0,6:15:99:225,252,630,0,378,360	17	0	1	1
chr1	10653940	10653940	G	A	exonic	CASZ1	.	nonsynonymous SNV	CASZ1:NM_001079843:exon11:c.C2117T:p.P706L	.	.	420	1093	9	0	0	9	0.00410023	.	.	2094064	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.06	T	0.996	D	0.753	P	0.000	D	1.000	D	1.355	L	.	.	-0.590	T	0.259	T	0.385	4.664	25.7	4.84	2.619	9.315	18.842	0.153	0.0161741442526	0.0013	0.00119808	0.0012	0.0016	0.0019	0	0	0.0014	0.0033	0.0004	0.0011125	172	154602	rs61736955	0.0010	0.0010	0.0010	0.0011	0.0149	0.0010	0.0010	0.0124	0.0114	0.0026	0.0020	0.0075	0	0	0.0149	0.0008	0.0027	0.0007	0.0015	0.0015	0.0015	0.0016	0.0031	0.0014	0.0013	0.0024	0.0022	0.0015	0	0.0031	0.0089	0	0	0.0136	0.0011	0.0014	0.0006	0.001	0.78490	D	0.002	0.79402	D	0.981	0.64070	D	0.254	0.48708	B	0.000140	0.49741	D	0.215662	0.999997	0.58761	D	0.895	0.22405	L	.	.	.	-2.7	0.57599	D	0.45	0.48780	-0.5896	0.65237	T	0.259	0.62933	T	9	0.005784869	0.00129	T	0.016174	0.37293	T	0.153	0.40148	.	.	0.138757226776	0.13463	0.5369737402622605	0.53622	.	.	0.585120081902	0.50807	T	0.307474	0.67962	T	-0.267236	0.12067	T	-0.163119	0.58071	T	0.0320972402382619	0.02321	T	0.921708	0.71584	D	0.25234944	0.48249	0.2414009	0.49537	0.2367212	0.46526	0.25741038	0.51456	-7.058	0.54456	T	.	.	0.092	0.13550	B	.;.	.;.	4.731177	0.76202	26.5	0.99873771077825413	0.95076	0.95391	0.64536	D	AEFDBHCI	0.879240	0.80505	D	0.593987721383902	0.72796	5.862817	0.632332800186163	0.77301	6.652937	0.999999999992004	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.84	4.84	0.62125	9.241000	0.94526	8.494000	0.77338	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.897000	0.43391	0.0:0.0:1.0:0.0	18.842	0.92156	790	0.46189	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1596.98	65	chr1	10653940	.	G	A	1596.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.25;DP=1114;ExcessHet=0.0000;FS=0.745;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.50;ReadPosRankSum=0.288;SOR=0.557	GT:AD:DP:GQ:PL	0/1:48,55:103:99:1611,0,1206	20	0	1	0
chr1	12794137	12794137	G	A	exonic	PRAMEF1	.	stopgain	PRAMEF1:NM_023013:exon3:c.G510A:p.W170X,	.	.	438	1068	14	2	0	18	0.00835655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.002	N	1.000	N	.	.	.	.	.	.	.	.	.	2.953	15.84	1.74	1.273	1.481	6.956	.	.	.	0.000199681	3.32e-05	0.0002	8.642e-05	0	0	0	0	6.069e-05	3.84e-05	1	26028	rs576609145	0.0003	0.0011	0.0002	0.0004	0.0019	0.0003	0.0003	0.0017	0.0016	0	0.0006	0.0003	0.0016	0.0002	0.0002	0.0001	0.0003	0.0019	0.0023	0.0092	0.0023	0.0024	0.0074	0.0021	0.0020	0.0054	0.0047	0.0007	0	0.0025	0.0015	0.0048	0.0021	0	0.0028	0.0035	0.0074	.	.	.	.	.	.	.	.	.	.	.	.	0.001734	0.38161	N	0.234704	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.015	0.00181	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0542977	0.58895	T	0.0768869	0.75369	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	6.150114	0.94673	34	0.98770900261027439	0.45971	0.03351	0.08438	N	AEFI	0.028738	0.02587	N	-0.00152480262650556	0.41786	2.505716	-0.392103728872145	0.25230	1.386319	3.21845939223488E-5	0.03775	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.74	1.74	0.23636	1.643000	0.36833	0.273000	0.16680	0.481000	0.22134	0.019000	0.19563	0.000000	0.08366	0.003000	0.05239	0.0:0.0:1.0:0.0	6.956	0.23754	888	0.27761	.	.	.	.	.	.	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	0.02381	373.98	37	chr1	12794137	.	G	A	373.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.19;DP=1306;ExcessHet=0.0000;FS=29.806;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=47.60;MQRankSum=-6.274e+00;QD=2.19;ReadPosRankSum=-3.120e-01;SOR=3.097	GT:AD:DP:GQ:PL	0/1:145,26:171:99:388,0,4145	20	0	1	0
chr1	12794474	12794474	C	T	exonic	PRAMEF1	.	nonsynonymous SNV	PRAMEF1:NM_023013:exon3:c.C847T:p.H283Y,	.	.	440	1058	22	2	0	26	0.0121382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.001	B	0.008	B	0.959	N	1.000	N	1.56	L	5.51	T	-0.939	T	0.004	T	0.263	-1.320	0.033	-2.06	-0.574	-2.385	5.402	0.025	0.00164612907533	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200215746	5.423e-05	0.0010	2.185e-05	8.694e-05	0.0004	4.425e-05	4.096e-05	0.0003	0.0003	0	6.738e-05	0	0.0003	0	0.0004	2.345e-05	0	0.0004	0.0008	0.0066	0.0007	0.0009	0.0018	0.0007	0.0006	0.0010	0.0007	0.0002	0	0.0012	0.0015	0.0018	0.0013	0	0.0008	0.0005	0.0016	0.488	0.08042	T	0.373	0.16328	T	0.001	0.07471	B	0.008	0.13708	B	0.959497	0.07708	N	1.018660	1	0.08975	N	2.05	0.56469	M	5.51	0.00912	T	-3.0	0.62343	D	0.173	0.18512	-0.9386	0.42837	T	0.004	0.01226	T	10	0.059375614	0.07129	T	0.001646	0.02676	T	0.025	0.05312	.	.	0.0884992946249	0.08302	0.1587466601454392	0.15795	0.41441442246	0.42123	0.526407063007	0.42528	T	0.012055	0.10661	T	-0.298545	0.08798	T	-0.666616	0.07827	T	0.0575446023762822	0.06776	T	0.340666	0.07366	T	0.023380632	0.01074	0.03212981	0.01901	0.023380632	0.01074	0.03212981	0.01901	-5.053	0.37410	T	.	.	0.097	0.15921	B	.	.	-0.595727	0.01583	0.106	0.29657303040791788	0.01584	0.00119	0.00751	N	AEFI	0.024797	0.01593	N	-1.63891141640117	0.01082	0.04698796	-1.76594649224929	0.00875	0.03909194	2.37417213051124E-5	0.03498	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.61	-2.06	0.06894	-2.140000	0.01387	-13.865000	0.00434	-3.082000	0.00127	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4901:0.0:0.5099	5.402	0.15599	888	0.27761	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	318.15	37	chr1	12794474	.	C	T	318.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.249;DP=1058;ExcessHet=0.0000;FS=2.884;InbreedingCoeff=-0.0303;MLEAC=1;MLEAF=0.024;MQ=57.06;MQRankSum=-8.192e+00;QD=4.61;ReadPosRankSum=-2.825e+00;SOR=1.267	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,12:69:99:0|1:12794470_T_C:332,0,2347:12794470	20	0	1	0
chr1	12827262	12827262	C	T	exonic	PRAMEF11	.	nonsynonymous SNV	PRAMEF11:NM_001146344:exon3:c.G862A:p.D288N,	.	.	435	1075	11	1	0	13	0.00601017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	1.0	D	0.999	D	0.023	N	1.000	N	1.43	L	0.7	T	-0.970	T	0.160	T	0.153	1.141	9.650	-0.767	-0.222	-0.033	2.463	0.079	0.0020403768286	.	.	0.0342	0.0093	0.0300	0.0593	0.0240	0.0328	0.0428	0.0527	3.84e-05	1	26028	rs200433298	0.0014	0.0085	0.0015	0.0014	0.0029	0.0014	0.0013	0.0025	0.0023	0.0003	0.0004	0.0006	0.0029	0.0002	0.0007	0.0015	0.0010	0.0021	0.0018	0.0064	0.0016	0.0019	0.0044	0.0016	0.0015	0.0029	0.0025	0.0004	0	0.0020	0.0015	0.0044	0.0016	0.0035	0.0024	0.0015	0.0029	.	.	.	0.179	0.29540	T	.	.	.	.	.	.	0.023064	0.26512	N	0.418720	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.099	0.08088	-0.9702	0.37157	T	0.160	0.49397	T	10	0.0064775944	0.00147	T	.	.	.	.	.	.	.	.	.	0.47475788662323853	0.47394	.	.	0.553157448769	0.46302	T	.	.	.	-0.214735	0.18716	T	-0.546228	0.17689	T	0.0339721825560061	0.02633	T	.	.	.	0.022219915	0.00871	0.029012373	0.01194	0.022219915	0.00870	0.029012373	0.01193	-3.481	0.16167	T	.	.	0.138	0.30184	B	.	.	1.385293	0.17971	13.48	0.99206464986899356	0.55442	0.00638	0.02794	N	AEFI	0.022082	0.01060	N	-0.65285066657418	0.17378	0.8936733	-0.931906158830225	0.11343	0.5773011	1.21757686836682E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.48	-0.767	0.10461	-0.202000	0.09453	-8.585000	0.00945	-0.380000	0.05395	0.015000	0.19116	0.000000	0.08366	0.003000	0.05239	0.0:0.4293:0.3252:0.2455	2.463	0.04268	911	0.21964	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	163.98	91	chr1	12827262	.	C	T	163.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.400e-01;DP=2295;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=34.74;MQRankSum=-6.069e+00;QD=1.27;ReadPosRankSum=0.489;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,13:129:99:0|1:12827262_C_T:178,0,4668:12827262	20	0	1	0
chr1	12859131	12859131	G	T	exonic	PRAMEF2	.	nonsynonymous SNV	PRAMEF2:NM_023014:exon2:c.G122T:p.R41M,	.	.	432	1072	15	3	0	21	0.00969977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.0	B	0.0	B	0.927	N	1.000	N	-2.145	N	3.78	T	-0.952	T	0.002	T	0.065	-2.658	0	-0.969	-1.161	-0.620	1.680	0.038	.	0.0047	0.034345	0.0232	0.0171	0.0169	0.0286	0.0153	0.0218	0.0255	0.0370	0.0011902	184	154602	rs1063757	0.0006	0.0054	0.0006	0.0006	0.0125	0.0006	0.0005	0.0115	0.0111	0.0125	0.0011	0.0003	0.0004	3.77e-05	0.0007	0.0002	0.0009	0.0013	0.0041	0.0092	0.0045	0.0037	0.0110	0.0038	0.0037	0.0102	0.0098	0.0110	0	0.0040	0.0018	0.0014	0.0004	0	0.0010	0.0039	0.0011	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.927202	0.07513	N	1.033810	1	0.08975	N	-2.515	0.00055	N	3.78	0.03836	T	3.69	0.00073	N	0.042	0.01498	-0.9516	0.40695	T	0.002	0.00676	T	10	0.0035119355	0.00063	T	.	.	.	0.038	0.09825	.	.	.	.	0.16272961513015843	0.16192	0.0450586555311	0.04875	0.626866281033	0.56701	T	0.001303	0.00783	T	-0.423607	0.01623	T	-0.846259	0.01009	T	0.0158424383179235	0.00371	T	.	.	.	0.05509354	0.10661	0.033169996	0.02169	0.05509354	0.10660	0.033169996	0.02169	2.333	0.00038	T	.	.	0.086	0.10931	B	.	.	-0.399165	0.02216	0.222	0.10683151292550398	0.00141	0.00034	0.00302	N	AEFI	0.011638	0.00107	N	-2.0091316525581	0.00202	0.008661477	-1.98797891654875	0.00325	0.01433613	2.64378383035506E-6	0.01202	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.842	-0.969	0.09783	-0.878000	0.04300	-3.491000	0.02746	-0.208000	0.08445	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3362:0.0:0.2959:0.3679	1.680	0.02660	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	0.02381	61.98	37	chr1	12859131	.	G	T	61.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.86;DP=1168;ExcessHet=0.0000;FS=6.488;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.35;MQRankSum=-7.443e+00;QD=0.95;ReadPosRankSum=-1.553e+00;SOR=2.012	GT:AD:DP:GQ:PL	0/1:59,6:65:76:76,0,1574	20	0	1	0
chr1	12859142	12859142	A	C	exonic	PRAMEF2	.	nonsynonymous SNV	PRAMEF2:NM_023014:exon2:c.A133C:p.S45R,	.	.	434	1068	17	3	0	23	0.0106531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.0	B	0.003	B	0.146	N	1.000	N	1.64	L	3.54	T	-0.967	T	0.018	T	0.376	-0.461	1.869	-1.06	-0.293	-0.951	3.549	0.055	.	0.0007	.	0.0224	0.0065	0.0169	0.0287	0.0154	0.0220	0.0255	0.0370	1.94e-05	3	154602	rs148395681	0.0003	0.0058	0.0002	0.0004	0.0016	0.0003	0.0003	0.0014	0.0013	9.013e-05	0.0005	0.0005	0.0015	9.447e-05	0.0002	0.0002	0.0003	0.0016	0.0016	0.0078	0.0016	0.0016	0.0042	0.0015	0.0014	0.0027	0.0023	0.0004	0	0.0022	0.0021	0.0030	0.0013	0	0.0020	0.0020	0.0042	0.207	0.19854	T	0.197	0.27855	T	0.0	0.02946	B	0.003	0.08700	B	0.146375	0.02927	N	1.895630	1	0.08975	N	1.2	0.30300	L	3.54	0.04799	T	-1.82	0.42763	N	0.063	0.03502	-0.9667	0.37874	T	0.018	0.07518	T	10	0.0055422187	0.00122	T	.	.	.	0.055	0.15663	0.573	0.69695	.	.	0.24634982894860383	0.24548	0.0453201509487	0.04909	0.632463812828	0.57494	T	0.005646	0.05100	T	-0.244245	0.14813	T	-0.588617	0.13786	T	0.00384108233459228	0.00041	T	.	.	.	0.08908517	0.20803	0.1023203	0.24520	0.08908517	0.20803	0.1023203	0.24519	-5.848	0.44990	T	.	.	0.204	0.42877	B	.	.	0.234352	0.06155	2.600	0.4861215699616942	0.04071	0.00120	0.00751	N	AEFI	0.021374	0.00945	N	-1.17082364800591	0.05446	0.2482901	-1.32117409778244	0.04157	0.195488	1.31962910234648E-6	0.01202	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.842	-1.06	0.09491	-1.583000	0.02219	-14.080000	0.00422	0.646000	0.52725	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.5854:0.4146:0.0:0.0	3.549	0.07393	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	0.02381	173.98	37	chr1	12859142	.	A	C	173.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=1172;ExcessHet=0.0000;FS=7.324;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.37;MQRankSum=-7.658e+00;QD=2.60;ReadPosRankSum=-9.720e-01;SOR=1.885	GT:AD:DP:GQ:PL	0/1:57,10:67:99:188,0,1536	20	0	1	0
chr1	12881867	12881867	C	T	exonic	PRAMEF4	.	nonsynonymous SNV	PRAMEF4:NM_001009611:exon3:c.G862A:p.D288N,	.	.	437	1060	23	2	0	27	0.0125757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	1.0	D	0.999	D	0.023	N	1.000	N	1.08	L	0.7	T	-0.986	T	0.144	T	0.105	1.132	9.615	-0.89	-0.239	-0.503	3.037	0.051	0.00114698807214	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200956025	0.0026	0.0086	0.0024	0.0027	0.0064	0.0025	0.0025	0.0057	0.0055	0.0003	0.0019	0.0021	0.0064	0.0018	0.0022	0.0025	0.0026	0.0041	0.0028	0.0079	0.0032	0.0024	0.0041	0.0026	0.0025	0.0034	0.0032	0.0009	0	0.0034	0.0021	0.0037	0.0027	0	0.0038	0.0036	0.0041	0.16	0.23721	T	0.186	0.28860	T	1.0	0.90584	D	0.999	0.92359	D	0.023064	0.26512	N	0.418720	1	0.08975	N	1.62	0.41497	L	0.7	0.51474	T	-3.81	0.71882	D	0.278	0.31478	-0.9856	0.33687	T	0.144	0.46696	T	10	0.0845927	0.14194	T	0.001147	0.01434	T	0.051	0.14325	.	.	0.158396225186	0.15383	0.24433227600248794	0.24347	2.50878901569	0.97686	0.701608836651	0.67376	T	0.023709	0.18049	T	-0.275459	0.11156	T	-0.633454	0.10154	T	0.562671661376953	0.34956	D	.	.	.	0.023086784	0.01019	0.024811512	0.00508	0.023086784	0.01019	0.024811512	0.00508	-3.6	0.17857	T	.	.	0.126	0.26607	B	.	.	0.790309	0.11606	8.196	0.99289873868908907	0.58219	0.00254	0.01397	N	AEFI	0.020490	0.00814	N	-0.770649728458505	0.14080	0.6984676	-1.05249213120013	0.08655	0.4266333	1.25233174664961E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.48	-0.89	0.10041	-0.308000	0.08196	-11.230000	0.00623	-0.552000	0.04894	0.089000	0.22556	0.000000	0.08366	0.005000	0.06747	0.0:0.5146:0.2846:0.2008	3.037	0.05754	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	141.98	185	chr1	12881867	.	C	T	141.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.063e+00;DP=2213;ExcessHet=0.0000;FS=2.457;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=36.39;MQRankSum=-2.432e+00;QD=0.94;ReadPosRankSum=1.84;SOR=1.123	GT:AD:DP:GQ:PL	0/1:137,14:151:99:156,0,4057	20	0	1	0
chr1	12919851	12919851	G	A	splicing	PRAMEF7	NM_001012277:exon4:c.864-1G>A	.	.	.	.	877	644	0	1	0	2	0.00155039	1.0000	0.898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.775	11.90	1.68	1.242	3.349	9.375	.	.	.	.	8.248e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs199770514	0.0025	0.0070	0.0021	0.0029	0.0114	0.0025	0.0024	0.0107	0.0104	0.0007	0.0028	0.0025	0.0085	0.0018	0.0023	0.0016	0.0028	0.0114	0.0003	0.0046	0.0003	0.0003	0.0012	0.0002	0.0002	0.0003	0.0002	0.0003	0	0.0004	0	0.0012	0.0003	0	0.0002	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0702418	0.41289	T	-0.338674	0.40494	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	2.662730	0.34696	19.70	0.97373563797846296	0.33637	0.47059	0.27898	N	AEFI	.	.	.	0.491650854872737	0.66601	4.971257	0.152247568033959	0.47260	2.959018	1.70053872581964E-5	0.02871	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0896902	0.20274	1.68	1.68	0.23219	3.640000	0.54086	1.582000	0.27480	0.320000	0.19365	0.517000	0.27088	0.309000	0.24262	0.006000	0.07323	0.0:0.0:1.0:0.0	9.375	0.37437	964	0.07719	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	110.96	36	chr1	12919851	.	G	A	110.96	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=344;ExcessHet=0.0000;FS=6.021;InbreedingCoeff=-0.0460;MLEAC=1;MLEAF=0.026;MQ=25.63;MQRankSum=-3.190e-01;QD=27.74;ReadPosRankSum=0.319;SOR=2.788	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,3:4:33:0|1:12919845_C_T:123,0,33:12919845	18	0	1	2
chr1	12919865	12919865	T	C	exonic	PRAMEF7	.	nonsynonymous SNV	PRAMEF7:NM_001012277:exon4:c.T877C:p.S293P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.002	B	0.000	N	1.000	N	-1.15	N	5.35	T	-0.912	T	0.001	T	0.156	-1.374	0.026	1.68	0.277	0.333	6.411	0.101	0.0026337940387	.	.	.	.	.	.	.	.	.	.	0.0001488	23	154602	rs200741009	0.0028	0.0070	0.0024	0.0032	0.0130	0.0027	0.0027	0.0122	0.0119	0.0009	0.0038	0.0024	0.0091	0.0021	0.0019	0.0018	0.0033	0.0130	0.0002	0.0041	0.0001	0.0002	0.0011	0.0001	8.75e-05	0.0002	8.235e-05	0.0003	0	0.0002	0	0.0005	0.0002	0	0.0001	0	0.0011	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.06944	B	0.000011	0.62929	N	0.066123	0.999999	0.08975	N	-1.71	0.00345	N	5.35	0.01058	T	4.82	0.00027	N	0.192	0.21056	-0.9122	0.46582	T	0.001	0.00438	T	10	0.064653784	0.08607	T	0.002634	0.05349	T	0.101	0.28911	.	.	0.158396225186	0.15383	0.25308466352116044	0.25222	.	.	0.501503288746	0.39037	T	0.043881	0.26642	T	-0.321179	0.06801	T	-0.699128	0.05874	T	0.0665859282016754	0.08163	T	.	.	.	0.1624676	0.36324	0.17664526	0.40213	0.1624676	0.36324	0.17664526	0.40212	0.877	0.00148	T	.	.	0.037	0.00007	B	.;.	.;.	0.037642	0.04546	1.237	0.81474547889342031	0.13703	0.00020	0.00220	N	AEFI	0.009686	0.00059	N	-1.55856231072618	0.01485	0.06483202	-1.4973977514051	0.02366	0.10869	2.01611720251108E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.68	1.68	0.23219	0.455000	0.21555	-15.000000	0.00376	-0.699000	0.04065	0.050000	0.21411	0.000000	0.08366	0.002000	0.04165	0.0:0.8267:0.0:0.1733	6.411	0.20895	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02632	42.12	36	chr1	12919865	.	T	C	42.12	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.310e-01;DP=341;ExcessHet=0.0000;FS=4.771;InbreedingCoeff=-0.0542;MLEAC=1;MLEAF=0.026;MQ=27.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=0.967;SOR=2.225	GT:AD:DP:GQ:PL	0/1:1,2:3:36:54,0,36	18	0	1	2
chr1	12938964	12938964	T	G	exonic	PRAMEF6	.	nonsynonymous SNV	PRAMEF6:NM_001010889:exon4:c.A1142C:p.N381T,	.	.	447	1062	13	0	0	13	0.00608329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.124	N	1.000	N	-1.725	N	3.31	T	-0.992	T	0.004	T	0.047	-3.282	0.001	-3.05	-2.049	-1.950	0.905	0.014	0.000621338657317	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201631675	0.0022	0.0094	0.0020	0.0023	0.0054	0.0021	0.0021	0.0048	0.0046	0.0003	0.0021	0.0016	0.0054	0.0022	0.0010	0.0020	0.0019	0.0041	0.0026	0.0072	0.0026	0.0026	0.0059	0.0024	0.0023	0.0040	0.0034	0.0006	0.0012	0.0025	0.0023	0.0059	0.0027	0.0045	0.0034	0.0044	0.0037	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.123610	0.02748	N	1.746340	1	0.08975	N	-1.89	0.00245	N	3.31	0.06291	T	1.42	0.00815	N	0.06	0.03175	-0.9921	0.32063	T	0.004	0.01295	T	10	0.011857927	0.00257	T	6.21E-4	0.00303	T	0.014	0.01968	.	.	0.043077524339	0.03247	0.20607784330617418	0.20524	1.6646576861	0.89749	0.555773258209	0.46670	T	0.004593	0.03998	T	-0.450818	0.01117	T	-0.885346	0.00611	T	0.0587845897810647	0.06975	T	.	.	.	0.03359858	0.03609	0.023313466	0.00345	0.03359858	0.03609	0.023313466	0.00345	-0.28	0.00464	T	.	.	0.070	0.03811	B	.;.	.;.	-1.271123	0.00463	0.010	0.093876461078483311	0.00095	0.00113	0.00716	N	AEFI	0.019146	0.00639	N	-2.30980553299486	0.00043	0.001851056	-2.30538676942165	0.00064	0.002832538	4.12391218167745E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-3.05	0.05069	-1.904000	0.01684	-20.000000	0.00162	-3.700000	0.00065	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2517:0.3882:0.1632:0.1968	0.905	0.01201	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	106.98	55	chr1	12938964	.	T	G	106.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.763e+00;DP=962;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=26.75;MQRankSum=-3.276e+00;QD=0.94;ReadPosRankSum=-1.525e+00;SOR=0.019	GT:AD:DP:GQ:PL	0/1:101,13:114:99:121,0,2773	20	0	1	0
chr1	12939007	12939007	C	T	exonic	PRAMEF6	.	nonsynonymous SNV	PRAMEF6:NM_001010889:exon4:c.G1099A:p.V367I,	.	.	481	1040	1	0	0	1	0.000480538	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.204	B	0.178	B	0.030	N	1.000	N	0.37	N	2.96	T	-1.006	T	0.016	T	0.132	0.387	6.099	-3.05	-0.858	-0.174	9.378	0.014	0.00109688161469	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201465736	0.0002	0.0022	0.0002	0.0003	0.0018	0.0002	0.0002	0.0015	0.0014	0	0.0002	0.0003	0.0018	0.0010	0.0005	0.0001	0.0003	0.0008	0.0014	0.0058	0.0015	0.0013	0.0031	0.0012	0.0012	0.0017	0.0013	0.0004	0	0.0017	0.0016	0.0024	0.0017	0	0.0016	0.0031	0.0031	0.025	0.47320	D	0.142	0.33330	T	0.037	0.20876	B	0.033	0.22329	B	0.029716	0.25414	N	0.355560	1	0.08975	N	1.325	0.33218	L	2.96	0.09542	T	0.45	0.03191	N	0.118	0.10769	-1.0064	0.28034	T	0.016	0.06569	T	10	0.023461252	0.00615	T	0.001097	0.01312	T	0.014	0.01968	.	.	0.043077524339	0.03247	0.2025716690766436	0.20174	1.43186678374	0.85819	0.668855369091	0.62674	T	0.010179	0.09213	T	-0.3336	0.05843	T	-0.71697	0.04944	T	0.239004150032997	0.22373	T	.	.	.	0.02327229	0.01054	0.03592122	0.02936	0.02327229	0.01053	0.03592122	0.02936	-3.498	0.16403	T	.	.	0.114	0.22861	B	.;.	.;.	-0.357351	0.02378	0.261	0.8384587250085328	0.14952	0.00304	0.01615	N	AEFI	0.023539	0.01327	N	-1.44322450188685	0.02271	0.1000831	-1.57197300288972	0.01829	0.0833124	5.11991388303926E-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	-3.05	0.05069	0.033000	0.13642	-20.000000	0.00162	-2.151000	0.00373	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.0:0.6713:0.3287:0.0	9.378	0.37458	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	51.98	55	chr1	12939007	.	C	T	51.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.990e-01;DP=897;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=26.40;MQRankSum=-9.780e-01;QD=0.76;ReadPosRankSum=0.865;SOR=0.012	GT:AD:DP:GQ:PL	0/1:62,6:68:66:66,0,1727	20	0	1	0
chr1	12939019	12939019	T	C	exonic	PRAMEF6	.	nonsynonymous SNV	PRAMEF6:NM_001010889:exon4:c.A1087G:p.I363V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.0	B	0.0	B	0.000	N	1.000	N	-0.77	N	3.1	T	-0.981	T	0.008	T	0.064	-3.510	0.001	-3.05	-3.075	-1.933	0.116	0.078	0.0010494013884	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs199921865	0.0003	0.0025	0.0002	0.0003	0.0022	0.0003	0.0002	0.0018	0.0017	0	0.0003	0.0004	0.0022	0.0007	0.0003	0.0001	0.0003	0.0011	0.0018	0.0061	0.0019	0.0017	0.0049	0.0016	0.0015	0.0031	0.0025	0.0006	0.0012	0.0022	0.0016	0.0034	0.0019	0	0.0021	0.0036	0.0049	0.501	0.07720	T	0.393	0.15355	T	0.0	0.02946	B	0.0	0.01387	B	0.000036	0.00348	N	6.431690	1	0.08975	N	-0.75	0.01730	N	3.1	0.08283	T	0.37	0.03639	N	0.048	0.01999	-0.9811	0.34748	T	0.008	0.02760	T	10	0.015374064	0.00323	T	0.001049	0.01191	T	0.078	0.22779	.	.	0.043077524339	0.03247	0.12431771065475677	0.12357	1.40497198893	0.85293	0.640659511089	0.58658	T	0.002864	0.02258	T	-0.437258	0.01342	T	-0.865867	0.00782	T	0.0813639387488365	0.10161	T	.	.	.	0.020455308	0.00605	0.024905236	0.00519	0.020455308	0.00604	0.024905236	0.00519	-3.652	0.18612	T	.	.	0.063	0.01534	B	.;.	.;.	-1.414293	0.00350	0.006	0.10988419649206094	0.00153	0.00140	0.00856	N	AEFI	0.027556	0.02273	N	-2.2012717286886	0.00076	0.00326484	-2.25839365667107	0.00083	0.003628054	0.00110259057750143	0.08228	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-3.05	0.05069	-2.769000	0.00850	-20.000000	0.00162	-3.109000	0.00123	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2913:0.2194:0.1554:0.3339	0.116	0.00055	970	0.06235	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	123.98	55	chr1	12939019	.	T	C	123.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.387e+00;DP=883;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=26.17;MQRankSum=-1.136e+00;QD=2.10;ReadPosRankSum=-3.750e-01;SOR=0.090	GT:AD:DP:GQ:PL	0/1:52,7:59:99:138,0,1436	20	0	1	0
chr1	12939099	12939099	T	A	exonic	PRAMEF6	.	nonsynonymous SNV	PRAMEF6:NM_001010889:exon4:c.A1007T:p.Y336F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.107	N	1.000	N	-1.81	N	3.01	T	-0.926	T	0.006	T	0.076	-2.477	0.003	0.339	0.074	-0.248	3.740	0.013	0.00172055232894	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1212045870	0.0012	0.0083	0.0011	0.0013	0.0042	0.0011	0.0011	0.0036	0.0034	0.0001	0.0016	0.0014	0.0042	0.0009	0.0015	0.0009	0.0012	0.0035	0.0023	0.0076	0.0024	0.0023	0.0061	0.0021	0.0020	0.0039	0.0032	0.0006	0.0013	0.0024	0.0014	0.0036	0.0018	0.0080	0.0031	0.0020	0.0061	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.107395	0.02605	N	1.835730	1	0.08975	N	-1.95	0.00216	N	3.01	0.09075	T	1.63	0.00629	N	0.058	0.02964	-0.9261	0.44702	T	0.006	0.02206	T	10	0.018534362	0.00404	T	0.001721	0.02882	T	0.013	0.01715	.	.	0.043077524339	0.03247	0.1113188318648407	0.11060	1.51991440881	0.87402	0.641958117485	0.58843	T	0.003721	0.03130	T	-0.408056	0.02048	T	-0.823921	0.01375	T	0.0589441199757913	0.07000	T	.	.	.	0.053857688	0.10254	0.02265511	0.00286	0.053857688	0.10253	0.02265511	0.00286	0.439	0.00226	T	.	.	0.070	0.04277	B	.;.	.;.	-0.569935	0.01656	0.117	0.14642809269060375	0.00330	0.00023	0.00238	N	AEFI	0.013381	0.00175	N	-1.90475760070679	0.00336	0.01441866	-1.85278261524698	0.00604	0.02685704	1.11322317280092E-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	0.339	0.15219	-0.439000	0.06967	-3.056000	0.03101	-0.305000	0.06155	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.6627:0.0:0.0:0.3373	3.740	0.08052	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	52.0	34	chr1	12939099	.	T	A	52.0	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.99;DP=587;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0260;MLEAC=1;MLEAF=0.024;MQ=25.22;MQRankSum=-1.033e+00;QD=2.26;ReadPosRankSum=-6.850e-01;SOR=0.582	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,3:23:66:0|1:12939099_T_A:66,0,815:12939099	20	0	1	0
chr1	12939106	12939106	T	C	exonic	PRAMEF6	.	nonsynonymous SNV	PRAMEF6:NM_001010889:exon4:c.A1000G:p.T334A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.0	B	0.002	B	0.736	N	1.000	N	1.045	L	2.91	T	-0.981	T	0.019	T	0.065	-1.253	0.050	-3.05	-2.847	-1.468	4.168	0.008	0.000430231312826	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1159170717	0.0013	0.0084	0.0012	0.0014	0.0045	0.0012	0.0012	0.0039	0.0037	0.0002	0.0019	0.0016	0.0045	0.0009	0.0015	0.0010	0.0014	0.0039	0.0025	0.0077	0.0027	0.0024	0.0047	0.0023	0.0022	0.0029	0.0028	0.0007	0.0013	0.0031	0.0014	0.0039	0.0019	0.0157	0.0033	0.0020	0.0047	0.304	0.14303	T	0.427	0.13832	T	0.0	0.02946	B	0.0	0.01387	B	0.736349	0.06401	N	1.131660	1	0.08975	N	0.16	0.08945	N	2.91	0.10008	T	-2.57	0.55501	D	0.026	0.00571	-0.9806	0.34863	T	0.019	0.07753	T	10	0.021722943	0.00526	T	4.3E-4	0.00092	T	0.008	0.00669	0.296	0.26041	0.043077524339	0.03247	0.18757943304816366	0.18675	1.6140162408	0.88967	0.558938384056	0.47119	T	0.078214	0.35839	T	-0.41877	0.01742	T	-0.83931	0.01109	T	0.0561905378004138	0.06555	T	.	.	.	0.054016206	0.10307	0.046345264	0.06438	0.054016206	0.10306	0.046345264	0.06438	-5.986	0.46163	T	.	.	0.068	0.02829	B	.;.	.;.	-0.748047	0.01214	0.060	0.26705328653001426	0.01292	0.00137	0.00841	N	AEFI	0.019983	0.00745	N	-1.69436572603077	0.00862	0.03729456	-1.83968127523422	0.00640	0.0284578	5.60192468764745E-4	0.07304	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-3.05	0.05069	-1.191000	0.03164	-11.848000	0.00570	-4.360000	0.00032	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2004:0.3496:0.45	4.168	0.09778	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	55.0	34	chr1	12939106	.	T	C	55.0	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=575;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0260;MLEAC=1;MLEAF=0.024;MQ=25.23;MQRankSum=-1.024e+00;QD=2.50;ReadPosRankSum=-8.620e-01;SOR=0.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,3:22:69:0|1:12939099_T_A:69,0,789:12939099	20	0	1	0
chr1	12939119	12939119	A	C	exonic	PRAMEF6	.	nonsynonymous SNV	PRAMEF6:NM_001010889:exon4:c.T987G:p.S329R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.001	B	0.003	B	0.094	N	1.000	N	1.345	L	0.32	T	-1.052	T	0.104	T	0.273	0.111	4.599	-2.12	-0.500	-0.509	2.443	0.051	0.00319875323146	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1350147047	0.0019	0.0083	0.0016	0.0022	0.0061	0.0018	0.0018	0.0055	0.0053	0.0002	0.0027	0.0022	0.0061	0.0013	0.0026	0.0014	0.0020	0.0060	0.0027	0.0073	0.0028	0.0026	0.0060	0.0025	0.0024	0.0037	0.0031	0.0008	0.0027	0.0032	0.0018	0.0048	0.0017	0.0118	0.0035	0.0028	0.0060	0.127	0.27080	T	0.17	0.30436	T	0.001	0.07471	B	0.003	0.08700	B	0.093840	0.20204	N	0.522318	1	0.08975	N	0.535	0.13693	N	0.32	0.58468	T	-2.57	0.55501	D	0.194	0.21319	-1.0524	0.13736	T	0.104	0.38193	T	10	0.03261417	0.01416	T	0.003199	0.07026	T	0.051	0.14325	0.546	0.66015	0.043077524339	0.03247	0.5892625784559933	0.58856	1.79913636405	0.91619	0.628517627716	0.56934	T	0.089854	0.38462	T	-0.189966	0.22262	T	-0.510649	0.21248	T	0.0479062748044033	0.05126	T	.	.	.	0.09366907	0.22004	0.10548011	0.25357	0.09366907	0.22004	0.10548011	0.25356	-4.436	0.30042	T	.	.	0.118	0.24123	B	.;.	.;.	-0.661678	0.01412	0.083	0.71564530729828868	0.09672	0.00388	0.01954	N	AEFI	0.035038	0.04443	N	-1.17497625843714	0.05380	0.2451338	-1.31833371613489	0.04193	0.1972763	2.0880716037255E-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	-2.12	0.06766	-0.490000	0.06562	-20.000000	0.00162	-3.359000	0.00092	0.022000	0.19841	0.000000	0.08366	0.001000	0.02609	0.4651:0.2696:0.0:0.2653	2.443	0.04224	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	57.98	34	chr1	12939119	.	A	C	57.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.24;DP=545;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0247;MLEAC=1;MLEAF=0.024;MQ=25.06;MQRankSum=-9.170e-01;QD=2.76;ReadPosRankSum=-6.540e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:18,3:21:72:72,0,476	20	0	1	0
chr1	13318598	13318598	G	A	exonic	PRAMEF15	.	nonsynonymous SNV	PRAMEF15:NM_001098376:exon2:c.G191A:p.R64H,	.	.	405	1091	26	0	0	26	0.0117754	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.002	B	0.002	B	0.074	N	1.000	N	.	.	2.79	T	-1.004	T	0.017	T	0.07	-1.859	0.009	-2.1	-2.222	-0.392	0.380	0.031	0.0369774697323	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1472959485	0.0003	0.0067	0.0003	0.0003	0.0013	0.0003	0.0003	0.0007	0.0006	0.0005	0.0002	0.0002	0.0009	9.573e-05	0.0013	0.0003	0.0003	0.0005	0.0003	0.0025	0.0002	0.0003	0.0006	0.0002	0.0002	0.0002	0.0002	0.0004	0.0035	6.657e-05	0	0.0006	0.0002	0	0.0002	0.0005	0.0004	0.525	0.07140	T	0.575	0.08654	T	.	.	.	.	.	.	0.074092	0.02283	N	1.881130	1	0.08975	N	.	.	.	2.79	0.11189	T	-0.55	0.16799	N	0.044	0.01658	-1.0293	0.20681	T	0.015	0.05946	T	8	0.023069829	0.00593	T	0.001222	0.01608	T	.	.	.	.	0.0297737177859	0.01360	0.23243132047722803	0.23158	.	.	0.456076145172	0.32774	T	.	.	.	-0.42041	0.01700	T	-0.841667	0.01074	T	0.0221624638565028	0.00927	T	0.152485	0.01303	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.16973	B	.	.	-0.306877	0.02587	0.318	0.3247514774469345	0.01884	0.00112	0.00708	N	AEFI	0.021848	0.01021	N	-1.54749839839041	0.01549	0.06767291	-1.73690248014379	0.00983	0.04406507	1.1847666085279E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.15	-2.29	0.06419	-0.600000	0.05789	-8.133000	0.01022	-3.802000	0.00059	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.2401:0.3173:0.2441:0.1984	0.434	0.00444	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	906.68	50	chr1	13318598	.	G	A	906.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.608;DP=1464;ExcessHet=0.3300;FS=10.291;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=36.78;MQRankSum=-1.888e+00;QD=1.52;ReadPosRankSum=-1.951e+00;SOR=2.070	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:226,30:256:99:0|1:13318598_G_A:544,0,9307:13318598	18	0	3	0
chr1	13318601	13318601	G	A	exonic	PRAMEF15	.	nonsynonymous SNV	PRAMEF15:NM_001098376:exon2:c.G194A:p.R65H,	.	.	406	1103	13	0	0	13	0.00585849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.009	B	0.006	B	0.213	N	1.000	N	.	.	2.79	T	-0.966	T	0.017	T	0.062	-0.778	0.738	-0.162	-0.693	-0.526	6.180	0.027	0.0336539354214	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1416469108	5.572e-05	0.0019	5.475e-05	5.67e-05	0.0009	4.569e-05	4.179e-05	0.0003	0.0002	8.969e-05	2.244e-05	0.0004	2.52e-05	1.877e-05	0.0009	3.437e-05	8.326e-05	0.0002	0.0001	0.0007	0.0002	0.0001	0.0006	9.796e-05	8.303e-05	0.0002	9.119e-05	9.639e-05	0	6.588e-05	0.0003	0	9.445e-05	0	0.0002	0.0005	0.0006	0.204	0.20078	T	0.542	0.09690	T	.	.	.	.	.	.	0.212854	0.03399	N	1.582610	1	0.08975	N	.	.	.	2.79	0.11189	T	-2.67	0.57110	D	0.089	0.06720	-0.9832	0.34258	T	0.043	0.18576	T	8	0.088977695	0.15370	T	0.001103	0.01312	T	.	.	.	.	0.0297737177859	0.01360	0.23248738235852817	0.23163	.	.	0.376942545176	0.21821	T	.	.	.	-0.398143	0.02381	T	-0.809682	0.01672	T	0.115081892617503	0.13942	T	0.555844	0.19272	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.16973	B	.	.	0.481113	0.08503	5.267	0.62407952715295867	0.06955	0.00427	0.02100	N	AEFI	0.022775	0.01181	N	-1.00019295008573	0.08600	0.4038423	-1.23786836837196	0.05313	0.2528468	1.09865888659562E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.15	0.144	0.14120	-0.846000	0.04444	-10.921000	0.00652	-0.668000	0.04312	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2396:0.0:0.7604:0.0	4.502	0.11278	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	868.68	50	chr1	13318601	.	G	A	868.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.06;DP=1442;ExcessHet=0.3300;FS=13.380;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=36.67;MQRankSum=-1.868e+00;QD=1.46;ReadPosRankSum=-2.094e+00;SOR=2.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:225,29:254:99:0|1:13318598_G_A:525,0,9288:13318598	18	0	3	0
chr1	13319834	13319839	AGAGCA	-	exonic	PRAMEF15	.	nonframeshift deletion	PRAMEF15:NM_001098376:exon3:c.756_761del:p.E253_Q254del,	.	.	435	1037	50	0	0	50	0.0235405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.829e-05	0.0049	7.355e-05	6.298e-05	7.027e-05	5.733e-05	5.268e-05	5.4e-05	4.968e-05	0	4.487e-05	3.841e-05	5.091e-05	0.0002	0	6.645e-05	6.699e-05	7.027e-05	0.0002	0.0046	0.0002	0.0003	0.0010	0.0002	0.0001	0.0004	0.0003	2.415e-05	0	0.0004	0	0.0010	0.0004	0	0.0002	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	347.94	40	chr1	13319833	.	CAGAGCA	C	347.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.597e+00;DP=1713;ExcessHet=0.0000;FS=3.550;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=31.10;MQRankSum=-3.117e+00;QD=0.72;ReadPosRankSum=2.08;SOR=1.288	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:445,41:486:99:0|1:13319825_C_T:362,0,18415:13319825	20	0	1	0
chr1	13319836	13319836	A	0	exonic	PRAMEF15	.	.	.	.	.	432	909	136	0	45	181	0.0696008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	989.28	40	chr1	13319836	.	A	G,*	989.28	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-3.654e+00;DP=2161;ExcessHet=0.3300;FS=6.894;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=31.09;MQRankSum=-5.001e+00;QD=0.84;ReadPosRankSum=2.87;SOR=1.271	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:362,63,40:465:74:1|0:13319825_C_T:385,74,9104,0,8594,16394:13319825	18	0	2	0
chr1	13319841	13319841	-	AAC	exonic	PRAMEF15	.	nonframeshift insertion	PRAMEF15:NM_001098376:exon3:c.763_764insAAC:p.K255_K256insQ,	.	.	429	1040	50	0	3	53	0.0234742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0054	0.0001	9.159e-05	0.0001	9.076e-05	8.548e-05	9.87e-05	9.265e-05	0	4.495e-05	3.848e-05	5.099e-05	0.0002	0	0.0001	3.369e-05	0.0001	0.0003	0.0047	0.0002	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	2.421e-05	0	0.0005	0	0.0010	0.0007	0	0.0003	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	382.94	40	chr1	13319841	.	A	AAAC	382.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.140e-01;DP=1810;ExcessHet=0.0000;FS=3.470;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=31.35;MQRankSum=-3.238e+00;QD=0.82;ReadPosRankSum=2.69;SOR=1.251	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:426,40:466:99:0|1:13319825_C_T:397,0,17743:13319825	20	0	1	0
chr1	13319850	13319850	A	T	exonic	PRAMEF15	.	nonsynonymous SNV	PRAMEF15:NM_001098376:exon3:c.A772T:p.I258F,	.	.	429	1045	48	0	0	48	0.0224509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.0	B	0.002	B	0.001	N	1.000	N	.	.	5.52	T	-0.929	T	0.002	T	0.096	-2.623	0	-2.38	-0.882	-0.284	1.640	0.011	0.0465945570856	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1428519179	4.665e-05	0.0031	4.853e-05	4.475e-05	0.0002	3.726e-05	3.407e-05	3.85e-05	3.448e-05	0	0	0	0	0.0002	0.0002	4.915e-05	0	2.338e-05	0.0003	0.0049	0.0003	0.0004	0.0007	0.0002	0.0002	0.0004	0.0003	4.841e-05	0	0.0007	0	0.0004	0.0007	0	0.0003	0	0.0006	0.9	0.02424	T	0.776	0.04387	T	.	.	.	.	.	.	0.001351	0.00773	N	19.271900	1	0.08975	N	.	.	.	5.52	0.00903	T	1.5	0.00737	N	0.059	0.03069	-0.9244	0.44943	T	0.002	0.00497	T	8	0.030527383	0.01180	T	8.26E-4	0.00670	T	.	.	.	.	0.0138822411134	0.00435	0.33559197118945355	0.33472	.	.	0.548362731934	0.45626	T	.	.	.	-0.398354	0.02374	T	-0.809984	0.01665	T	0.0521829248714305	0.05879	T	0.019698	0.00107	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.03625	B	.	.	-0.990380	0.00785	0.025	0.12626954865192833	0.00225	0.00048	0.00378	N	AEFI	0.015058	0.00269	N	-1.80295027828649	0.00538	0.02316194	-1.93913050305334	0.00409	0.01808103	1.63364461905026E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.44	-2.89	0.05326	-2.241000	0.01279	-20.000000	0.00162	-2.623000	0.00229	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.219:0.2393:0.2149:0.3268	0.134	0.00071	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	305.98	40	chr1	13319850	.	A	T	305.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.951;DP=1809;ExcessHet=0.0000;FS=5.225;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=31.90;MQRankSum=-3.278e+00;QD=0.66;ReadPosRankSum=1.40;SOR=1.448	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:424,38:462:99:0|1:13319825_C_T:320,0,17479:13319825	20	0	1	0
chr1	13345086	13345086	T	G	exonic	PRAMEF14	.	nonsynonymous SNV	PRAMEF14:NM_001024661:exon2:c.A229C:p.T77P,	.	.	461	1035	26	0	0	26	0.0124046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.002	B	0.001	B	0.654	N	1.000	N	2.11	M	2.32	T	-0.964	T	0.124	T	0.367	0.148	4.794	-1.6	-0.360	-1.052	5.887	0.074	0.00170656780334	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1168444445	0.0015	0.0070	0.0015	0.0015	0.0039	0.0014	0.0014	0.0033	0.0031	0.0001	0.0005	0.0006	0.0039	0.0027	0.0007	0.0014	0.0013	0.0013	0.0015	0.0055	0.0014	0.0016	0.0029	0.0013	0.0013	0.0018	0.0015	0.0002	0	0.0024	0.0015	0.0020	0.0019	0	0.0019	0.0020	0.0029	0.157	0.23997	T	0.076	0.42614	T	.	.	.	.	.	.	0.654433	0.05942	N	1.174890	1	0.08975	N	.	.	.	2.32	0.16640	T	-3.45	0.67589	D	0.214	0.23884	-0.9644	0.38330	T	0.124	0.42841	T	10	0.17491472	0.32396	T	0.001886	0.03299	T	0.074	0.21613	0.624	0.75916	0.321697908245	0.31786	0.5765205294588179	0.57581	2.29754585724	0.96441	.	.	.	.	.	.	-0.270216	0.11732	T	-0.625923	0.10726	T	0.053435557547839	0.06093	T	0.186481	0.01942	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.27009	B	.	.	0.785476	0.11556	8.152	0.52104484035962373	0.04685	0.00424	0.02089	N	AEFI	0.056567	0.10468	N	-1.1046098999613	0.06561	0.30236	-1.26941778051577	0.04850	0.2297633	1.57618562141409E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.69	-1.6	0.07977	-2.165000	0.01360	-15.176000	0.00368	0.331000	0.19555	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.5655:0.4345	5.887	0.18133	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	87.98	34	chr1	13345086	.	T	G	87.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.86;DP=689;ExcessHet=0.0000;FS=5.083;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=34.57;MQRankSum=-1.771e+00;QD=2.15;ReadPosRankSum=-2.200e+00;SOR=1.942	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,5:41:99:0|1:13345081_T_C:102,0,1490:13345081	20	0	1	0
chr1	13390412	13390412	G	A	exonic	PRAMEF17	.	nonsynonymous SNV	PRAMEF17:NM_001099851:exon2:c.G359A:p.R120K,	.	.	464	1052	6	0	0	6	0.0028436	.	.	3378947	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.83	T	0.001	B	0.005	B	0.000	N	1.000	N	1.245	L	3.65	T	-0.972	T	0.011	T	0.068	-1.110	0.134	-2.78	-0.925	-1.477	2.011	0.034	0.00103778457957	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1330284625	6.169e-06	0.0001	5.456e-06	6.889e-06	5.399e-06	2.9e-06	2.1e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.399e-06	4.985e-05	0	1.321e-05	0.0008	1.291e-05	1.352e-05	1.48e-05	2.2e-06	8.2e-07	.	.	0	0	0	0	0	9.479e-05	0	1.48e-05	0	0	0.912	0.02355	T	0.816	0.03875	T	0.001	0.07471	B	0.004	0.10090	B	0.000000	0.00162	N	5.948600	1	0.08975	N	0.65	0.16133	N	3.65	0.04267	T	-0.11	0.08653	N	0.076	0.05037	-0.9678	0.37652	T	0.012	0.04463	T	10	0.05182615	0.05124	T	0.001038	0.01167	T	0.044	0.11924	0.447	0.50629	0.043077524339	0.03247	0.11226494324557337	0.11155	1.84208169535	0.92179	0.509003162384	0.40082	T	0.006872	0.06296	T	-0.384995	0.02896	T	-0.790795	0.02143	T	0.0486665759784795	0.05263	T	0.060194	0.00438	T	0.06815594	0.14824	0.048504375	0.07219	0.06815594	0.14823	0.048504375	0.07218	-4.095	0.25216	T	.	.	0.088	0.11797	B	.	.	-0.624693	0.01505	0.095	0.50562789387165252	0.04406	0.00131	0.00809	N	AEFI	0.021072	0.00899	N	-1.32598553024991	0.03381	0.1509159	-1.43675981179416	0.02892	0.1338983	2.83335449001552E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.957	-0.164	0.12705	-2.106000	0.01426	-15.955000	0.00333	-1.313000	0.01233	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4084:0.0:0.5916:0.0	2.938	0.05466	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	94.98	39	chr1	13390412	.	G	A	94.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.730e-01;DP=1492;ExcessHet=0.0000;FS=1.983;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.20;MQRankSum=-8.136e+00;QD=0.40;ReadPosRankSum=-2.940e+00;SOR=1.002	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:219,19:238:99:0|1:13390412_G_A:109,0,8985:13390412	20	0	1	0
chr1	13390415	13390415	C	T	exonic	PRAMEF17	.	nonsynonymous SNV	PRAMEF17:NM_001099851:exon2:c.C362T:p.A121V,	.	.	466	1050	6	0	0	6	0.002849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.002	B	0.005	B	0.098	N	1.000	N	1.3	L	3.6	T	-0.958	T	0.011	T	0.061	-0.183	3.108	-2.78	-1.246	-1.467	0.045	0.014	0.00116004399388	.	.	8.519e-06	0.0001	0	0	0	0	0	0	3.84e-05	1	26028	rs777853130	1.371e-05	0.0001	1.091e-05	1.653e-05	2.993e-05	8.95e-06	7.28e-06	6.53e-06	5.03e-06	2.993e-05	2.237e-05	0	2.52e-05	0	0	1.17e-05	4.985e-05	1.161e-05	2.642e-05	0.0008	3.874e-05	1.352e-05	0.0002	8.17e-06	5.16e-06	7.99e-06	2.99e-06	4.82e-05	0	0	0	0.0002	9.473e-05	0	0	0	0	0.322	0.13479	T	0.352	0.17372	T	0.002	0.09854	B	0.005	0.11217	B	0.098244	0.02522	N	1.969230	1	0.08975	N	0.765	0.19305	N	3.6	0.04494	T	-1.47	0.35991	N	0.043	0.01577	-0.9571	0.39717	T	0.012	0.04653	T	10	0.056393147	0.06316	T	0.001682	0.02779	T	0.014	0.01968	0.469	0.54214	0.043077524339	0.03247	0.14030672169975988	0.13953	1.81049548264	0.91795	0.482301414013	0.36374	T	0.014339	0.12223	T	-0.56222	0.00246	T	-0.860724	0.00835	T	0.0282441187680015	0.01724	T	0.174383	0.01678	T	0.031644277	0.03042	0.031398028	0.01722	0.031644277	0.03042	0.031398028	0.01722	-4.508	0.30993	T	.	.	0.081	0.08417	B	.	.	-0.284359	0.02687	0.348	0.68441518166701387	0.08659	0.00043	0.00351	N	AEFI	0.014324	0.00223	N	-1.30208531714761	0.03652	0.1635024	-1.45236590343535	0.02749	0.127	5.98087087345468E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.957	-1.91	0.07225	-1.348000	0.02736	-12.594000	0.00514	-0.386000	0.05369	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3559:0.3466:0.0:0.2976	1.585	0.02482	982	0.03397	.	.	.	.	.	.	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	0.02381	97.98	39	chr1	13390415	.	C	T	97.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.904e+00;DP=1490;ExcessHet=0.0000;FS=1.983;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.29;MQRankSum=-8.262e+00;QD=0.41;ReadPosRankSum=-3.227e+00;SOR=1.009	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:218,19:237:99:0|1:13390412_G_A:112,0,8964:13390412	20	0	1	0
chr1	13416392	13416392	C	T	exonic	PRAMEF20	.	nonsynonymous SNV	PRAMEF20:NM_001099852:exon2:c.C38T:p.A13V,	.	.	433	1070	19	0	0	19	0.00880037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	0.000	D	1.000	N	2.085	M	3.31	T	-1.063	T	0.025	T	0.202	1.475	10.88	0.567	0.218	-0.174	4.122	0.038	0.000861844621387	.	.	0.0042	0	0	0.0035	0	0.0071	0	0	0.0001537	4	26028	rs764804487	0.0009	0.0009	0.0009	0.0009	0.0015	0.0008	0.0008	0.0009	0.0009	0.0008	0.0009	0.0015	0.0004	0.0002	0.0015	0.0010	0.0008	0.0001	0.0009	0.0045	0.0010	0.0008	0.0011	0.0008	0.0007	0.0009	0.0008	0.0009	0	0.0008	0.0009	0.0008	0.0002	0.0035	0.0011	0.0014	0	0.014	0.53172	D	0.039	0.51112	D	.	.	.	.	.	.	0.000290	0.46274	D	0.148518	1	0.08975	N	.	.	.	3.31	0.06291	T	-3.25	0.65283	D	0.252	0.28498	-1.0626	0.11118	T	0.025	0.10643	T	8	0.011532217	0.00252	T	8.62E-4	0.00755	T	0.038	0.09825	.	.	0.0138822411134	0.00435	0.39221524248051254	0.39136	.	.	0.547596812248	0.45518	T	0.147362	0.48542	T	-0.314153	0.07387	T	-0.689035	0.06445	T	0.0238544619380555	0.01126	T	0.744526	0.36463	T	0.021667529	0.00781	0.040218234	0.04296	0.021667529	0.00781	0.040218234	0.04295	-7.23	0.55696	T	.	.	0.281	0.53293	B	.;.	.;.	1.297342	0.16988	12.89	0.97166827344432583	0.32656	0.00828	0.03334	N	AEFI	0.028801	0.02606	N	-0.735502719796307	0.15029	0.7538799	-0.942897332314359	0.11088	0.5627625	4.4732472864473E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.51	0.567	0.16510	-0.481000	0.06631	-5.194000	0.01811	-1.036000	0.01678	0.007000	0.17678	0.000000	0.08366	0.000000	0.00833	0.0:0.7721:0.0:0.2279	4.122	0.09581	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	0.02381	103.98	36	chr1	13416392	.	C	T	103.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.211e+00;DP=860;ExcessHet=0.0000;FS=1.035;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.85;MQRankSum=-1.247e+01;QD=0.61;ReadPosRankSum=-2.500e-01;SOR=0.552	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,14:170:99:0|1:13416350_G_T:118,0,6508:13416350	20	0	1	0
chr1	13416398	13416398	G	A	exonic	PRAMEF20	.	nonsynonymous SNV	PRAMEF20:NM_001099852:exon2:c.G44A:p.R15Q,	.	.	434	1071	17	0	0	17	0.00787402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.047	B	0.01	B	0.917	N	1.000	N	.	.	2.95	T	-0.972	T	0.009	T	0.058	-2.343	0.004	-3.5	-1.757	-0.724	3.158	0.007	0.000954738595631	.	0.000798722	0.0044	0	0	0	0	0.0083	.	0	0.0001537	4	26028	rs535426833	0.0024	0.0024	0.0025	0.0023	0.0030	0.0024	0.0023	0.0030	0.0029	0.0013	0.0003	0	0.0002	7.488e-05	0.0009	0.0030	0.0013	1.16e-05	0.0015	0.0050	0.0018	0.0012	0.0025	0.0014	0.0013	0.0022	0.0021	0.0010	0	0.0009	0	0	9.579e-05	0	0.0025	0.0014	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.917481	0.08510	N	0.958104	1	0.08975	N	.	.	.	2.95	0.09635	T	0.96	0.01488	N	0.062	0.03392	-0.9645	0.38310	T	0.007	0.02244	T	8	0.0063766837	0.00144	T	9.55E-4	0.00957	T	0.011	0.01250	.	.	0.0138822411134	0.00435	0.19450107170321504	0.19368	.	.	0.374819844961	0.21521	T	0.004103	0.03512	T	-0.420253	0.01704	T	-0.841441	0.01077	T	0.00914196568871131	0.00115	T	0.134887	0.01066	T	0.03570078	0.04252	0.041647475	0.04782	0.03570078	0.04251	0.041647475	0.04782	-1.743	0.02345	T	.	.	0.072	0.04436	B	.;.	.;.	0.294538	0.06705	3.213	0.44568382939539153	0.03436	0.00056	0.00418	N	AEFI	0.021635	0.00985	N	-1.25016189529583	0.04297	0.1936879	-1.35657874606101	0.03728	0.1745389	1.60029541903202E-4	0.05650	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.55	-2.74	0.05582	-0.353000	0.07740	-13.626000	0.00448	-0.308000	0.06107	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.4376:0.0:0.3125:0.2499	2.103	0.03461	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	0.02381	115.98	36	chr1	13416398	.	G	A	115.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.307e+00;DP=856;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.82;MQRankSum=-1.232e+01;QD=0.70;ReadPosRankSum=-7.180e-01;SOR=0.572	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,14:166:99:0|1:13416350_G_T:130,0,6340:13416350	20	0	1	0
chr1	13416415	13416415	G	C	exonic	PRAMEF20	.	nonsynonymous SNV	PRAMEF20:NM_001099852:exon2:c.G61C:p.E21Q,	.	.	426	1084	12	0	0	12	0.00550459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.018	B	0.135	B	0.293	N	1.000	N	.	.	3.25	T	-0.938	T	0.013	T	0.063	-1.737	0.011	-3.5	-1.628	-0.931	5.546	0.038	0.000469852561305	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs199792661	6.842e-07	6.84e-07	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	1.327e-05	0.0026	2.594e-05	0	6.616e-05	2.21e-06	8.3e-07	.	.	2.411e-05	0	6.616e-05	0	0	0	0	0	0	0	0.628	0.05183	T	0.411	0.14500	T	.	.	.	.	.	.	0.292666	0.14740	N	0.662450	1	0.08975	N	.	.	.	3.25	0.06762	T	-0.49	0.15578	N	0.062	0.03502	-0.9818	0.34585	T	0.009	0.03271	T	8	0.052461863	0.05283	T	4.7E-4	0.00124	T	0.062	0.17934	0.612	0.74535	0.0138822411134	0.00435	0.2718259259719314	0.27095	.	.	0.475276619196	0.35408	T	0.026643	0.19675	T	-0.445679	0.01197	T	-0.877963	0.00671	T	0.0246847622950291	0.01231	T	0.475352	0.14216	T	0.030638695	0.02761	0.026205024	0.00698	0.030638695	0.02760	0.026205024	0.00698	-3.0	0.10181	T	.	.	0.086	0.10739	B	.;.	.;.	-0.953561	0.00840	0.029	0.083430819691428529	0.00063	0.00161	0.00961	N	AEFI	0.028939	0.02640	N	-1.89533364157793	0.00351	0.01507821	-2.07015799919646	0.00216	0.009533919	0.0169436941713714	0.12893	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.55	-3.09	0.05006	-1.443000	0.02512	-6.191000	0.01470	-2.725000	0.00204	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3735:0.1983:0.4282:0.0	4.511	0.11320	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	109.98	36	chr1	13416415	.	G	C	109.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.581e+00;DP=858;ExcessHet=0.0000;FS=1.036;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.83;MQRankSum=-1.239e+01;QD=0.65;ReadPosRankSum=-6.930e-01;SOR=0.551	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,14:168:99:0|1:13416350_G_T:124,0,6424:13416350	20	0	1	0
chr1	15518245	15518245	C	T	exonic	CASP9	.	nonsynonymous SNV	CASP9:NM_001229:exon2:c.G283A:p.A95T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.073	B	0.06	B	0.141	N	1.000	N	0.895	L	4.64	T	-0.936	T	0.014	T	0.276	1.481	10.90	1.3	0.164	-0.009	4.527	0.028	0.00506188088607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.194	0.27783	T	0.484	0.16086	T	0.073	0.24078	B	0.06	0.26717	B	0.141159	0.18286	N	0.585612	0.999994	0.08975	N	1.24	0.30952	L	4.62	0.07920	T	-0.74	0.21429	N	0.074	0.13769	-0.9358	0.43272	T	0.014	0.05417	T	10	0.053319484	0.05503	T	0.005062	0.12815	T	0.028	0.06331	0.254	0.19378	0.392702134506	0.38879	0.24656893987794953	0.24570	0.116016811942	0.13085	0.25747859478	0.04595	T	0.102883	0.41102	T	-0.256968	0.13258	T	-0.606893	0.12239	T	0.0615760572254658	0.07414	T	0.579442	0.27600	T	0.14816163	0.33838	0.08891712	0.20761	0.14816163	0.33837	0.08891712	0.20760	-3.89	0.22152	T	.	.	0.080	0.27910	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.452592	0.08228	4.965	0.83915295214700614	0.14992	0.14802	0.18593	N	AEFDBI	0.138554	0.25989	N	-1.40255826153729	0.02616	0.1157809	-1.42818620782576	0.02973	0.137829	0.956065343669796	0.28225	0.706298	0.61202	0	0.709663	0.81188	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	3.29	1.3	0.20778	-0.072000	0.11446	-0.311000	0.10039	-1.753000	0.00686	0.164000	0.23853	0.002000	0.18203	0.004000	0.06068	0.2166:0.6563:0.0:0.127	4.527	0.11393	911	0.21964	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	596.83	142	chr1	15518245	.	C	T	596.83	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-4.421e+00;DP=1813;ExcessHet=1.7912;FS=165.634;InbreedingCoeff=-0.1592;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=0.68;ReadPosRankSum=0.402;SOR=11.152	GT:AD:DP:GQ:PL	0/1:103,27:130:99:134,0,2588	15	0	6	0
chr1	16051481	16051481	T	C	exonic	CLCNKB	.	nonsynonymous SNV	CLCNKB:NM_001165945:exon6:c.T724C:p.W242R	Bartter syndrome, type 3, Autosomal recessive;Bartter syndrome, type 4b, digenic, Digenic recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	2.5	M	-3.37	D	0.946	D	0.879	D	0.813	3.822	19.41	4.38	1.609	5.646	12.431	0.849	0.421418707566	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.86255	D	0.000154	0.49130	D	0.191906	0.99998	0.54805	D	2.75	0.80375	M	-3.37	0.94114	D	-11.53	0.99715	D	0.83	0.83269	0.946	0.96333	D	0.879	0.95982	D	10	0.96046215	0.95450	D	0.421419	0.93801	D	0.849	0.95323	0.783	0.90693	0.99714447896	0.99711	0.8908076086507766	0.89050	0.808974901303	0.66653	.	.	.	0.757318	0.93397	D	0.335126	0.85508	D	0.243609	0.85318	D	0.999272882938385	0.96781	D	0.946905	0.79612	D	0.9271045	0.93947	0.91122776	0.95776	0.9271045	0.93948	0.91122776	0.95777	-12.565	0.87494	D	0.853548009734201	0.91904	0.978	0.90850	P	.;.;.	.;.;.	5.074315	0.84651	28.4	0.99572639772031479	0.72501	0.98729	0.86106	D	AEFGBI	0.834106	0.75221	D	0.639174735600776	0.75668	6.347211	0.5600810660501	0.72103	5.757169	0.999997290790384	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.562822	0.20929	0	.	.	4.38	4.38	0.52019	4.697000	0.61467	7.617000	0.62147	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.0:0.0:1.0	12.431	0.54907	519	0.74455	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2385.98	36	chr1	16051481	.	T	C	2385.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.441e+00;DP=1197;ExcessHet=0.0000;FS=0.471;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.93;MQRankSum=0.00;QD=9.98;ReadPosRankSum=0.462;SOR=0.651	GT:AD:DP:GQ:PL	0/1:130,109:239:99:2400,0,3301	20	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	0.4286	41030.51	718	chr1	16563946	.	C	T	41030.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=0.258;DP=13151;ExcessHet=30.0624;FS=0.000;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=59.21;MQRankSum=-8.750e+00;QD=3.71;ReadPosRankSum=0.088;SOR=0.664	GT:AD:DP:GQ:PL	0/1:444,165:609:99:3526,0,12917	3	0	18	0
chr1	16563989	16563989	G	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	391	314	816	1	0	818	0.565698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3891	0.2879	0.4120	0.2492	0.4146	0.4143	0.3885	0.3951	0.0044437	687	154602	rs12117084	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0.0016	0.0027	0.0029	0	0.0030	0	0	.	.	0	.	0	0	.	0	0	0.0030	0	0	.	.	.	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353	0.39457	.	.	.	.	.	.	.	0.0024681687	0.00037	T	.	.	.	.	.	.	.	.	.	0.02352237282194909	0.02304	.	.	0.575379014015	0.49435	T	.	.	.	-0.455599	0.01046	T	-0.892213	0.00559	T	.	.	.	0.687031	0.29593	T	.	.	.	.	.	.	.	.	-3.451	0.15752	T	.	.	0.172	0.37820	B	.	.	0.069283	0.04780	1.396	0.1972110124842818	0.00678	0.00975	0.03723	N	AEFDBCIJ	0.029075	0.02679	N	.	.	.	.	.	.	7.36511087105358E-4	0.07723	0.383005	0.05895	0	0.332388	0.05802	1	0.457825	0.06646	0	0.467017	0.07116	0	.	.	0.566	0.566	0.16501	-0.694000	0.05217	-10.261000	0.00721	-1.511000	0.01016	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.	.	.	.	.	.	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	47598.51	991	chr1	16563989	.	G	C	47598.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-8.780e-01;DP=17388;ExcessHet=30.0624;FS=0.000;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=59.70;MQRankSum=-4.782e+00;QD=3.12;ReadPosRankSum=0.231;SOR=0.674	GT:AD:DP:GQ:PL	0/1:648,232:880:99:4458,0,17662	3	0	18	0
chr1	16564107	16564107	T	G	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	383	318	815	6	0	827	0.565277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4042	0.4090	0.4331	0.2091	0.4092	0.4156	0.4105	0.4299	0.0114492	298	26028	rs2990551	0	0.0008	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0042	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.218	0.26066	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.17828	.	.	.	.	.	.	.	0.005626291	0.00125	T	.	.	.	.	.	.	.	.	.	0.015489301517433041	0.01504	.	.	0.533775627613	0.43567	T	.	.	.	-0.499041	0.00579	T	-0.954615	0.00248	T	.	.	.	0.465553	0.17787	T	.	.	.	.	.	.	.	.	-2.062	0.03424	T	.	.	0.177	0.38676	B	.;.	.;.	-0.174163	0.03224	0.539	0.25431419136250621	0.01172	0.01395	0.04735	N	AEFDBHCI	0.031569	0.03403	N	.	.	.	.	.	.	7.84172557205885E-4	0.07810	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	-0.849	0.10181	-0.576000	0.05947	-14.342000	0.00409	-0.599000	0.04621	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	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	0.4048	106526.9	1008	chr1	16564107	.	T	G	106526.9	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-2.422e+00;DP=17757;ExcessHet=25.1139;FS=0.000;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=55.80;MQRankSum=6.43;QD=7.02;ReadPosRankSum=0.689;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:651,236:887:99:.:.:6327,0,21505	4	0	17	0
chr1	16564112	16564112	G	A	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	382	776	360	4	0	368	0.191667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0308	.	0.2106	0.0561	0.2861	0.0502	0.2065	0.2398	0.2097	0.2357	0.0002305	6	26028	rs200783506	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0008	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.031	0.54934	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.28264	.	.	.	.	.	.	.	0.0030666888	0.00051	T	.	.	.	.	.	.	.	.	.	0.05765086588271105	0.05706	.	.	0.524779081345	0.42300	T	.	.	.	-0.62494	0.00103	T	-0.595706	0.13176	T	.	.	.	0.79772	0.47570	T	.	.	.	.	.	.	.	.	-5.516	0.42017	T	.	.	0.264	0.49845	B	.;.	.;.	0.535560	0.09040	5.825	0.31427375372166372	0.01770	0.01195	0.04267	N	AEFDBHCI	0.026313	0.01952	N	.	.	.	.	.	.	5.56753264327555E-4	0.07304	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	0.566	0.16501	-1.612000	0.02163	-12.383000	0.00529	-0.617000	0.04568	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	19191.79	994	chr1	16564112	.	G	A	19191.79	.	AC=13;AF=0.325;AN=40;BaseQRankSum=1.44;DP=16699;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4737;MLEAC=13;MLEAF=0.325;MQ=55.13;MQRankSum=4.65;QD=1.72;ReadPosRankSum=0.230;SOR=0.710	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:763,115:878:99:.:.:1099,0,29674	7	0	13	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.4762	99791.4	773	chr1	16564144	.	C	T	99791.4	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.121e+00;DP=14037;ExcessHet=43.6797;FS=0.578;InbreedingCoeff=-0.9210;MLEAC=20;MLEAF=0.476;MQ=53.77;MQRankSum=-1.899e+01;QD=7.70;ReadPosRankSum=0.116;SOR=0.802	GT:AD:DP:GQ:PL	0/1:439,207:646:99:4646,0,16238	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	110456.43	755	chr1	16564149	.	C	T	110456.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-9.900e-01;DP=13366;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=53.66;MQRankSum=7.55;QD=8.81;ReadPosRankSum=-3.670e-01;SOR=0.678	GT:AD:DP:GQ:PL	0/1:301,316:617:99:8189,0,10231	1	0	20	0
chr1	16577387	16577387	T	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	356	799	367	0	0	367	0.186768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0434	.	0.2397	0.1662	0.2034	0.4259	0.2658	0.2330	0.2715	0.2199	0.0002523	39	154602	rs672812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.20811	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.36779	.	.	.	.	.	.	.	0.0049095154	0.00105	T	.	.	.	.	.	.	.	.	.	0.02503941752049605	0.02454	.	.	0.530892848969	0.43161	T	.	.	.	-0.607731	0.00131	T	-1.11074	0.00022	T	.	.	.	0.820118	0.47860	T	.	.	.	.	.	.	.	.	-10.2	0.75100	D	.	.	0.175	0.38263	B	.;.	.;.	-0.632514	0.01485	0.092	0.32524367853212488	0.01889	0.00033	0.00296	N	AEFI	0.015988	0.00334	N	.	.	.	.	.	.	7.48439775225963E-5	0.04552	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.192000	0.09585	-8.658000	0.00933	-0.551000	0.04898	0.005000	0.17040	0.000000	0.08366	0.005000	0.06747	.	.	.	444	0.79803	.;.	.	.	.	.	.	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	0.2381	6221.79	448	chr1	16577387	.	T	C	6221.79	.	AC=10;AF=0.238;AN=42;BaseQRankSum=1.96;DP=6360;ExcessHet=6.1002;FS=0.799;InbreedingCoeff=-0.3043;MLEAC=10;MLEAF=0.238;MQ=42.88;MQRankSum=-3.300e+00;QD=1.94;ReadPosRankSum=-6.470e-01;SOR=0.871	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:430,46:476:6:.:.:6,0,11759	11	0	10	0
chr1	16579293	16579293	A	G	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	529	584	394	15	0	424	0.266332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4770	0.4924	0.4777	0.4566	0.4691	0.4789	0.4718	0.4739	0.0008837	23	26028	rs4127114	2.64e-05	4.277e-05	2.622e-05	2.658e-05	0.0002	1.812e-05	1.531e-05	0.0001	7.808e-05	0.0002	0	4.461e-05	0.0002	0	0	1.524e-05	2.313e-05	0	0.0002	0.0007	0.0002	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0.0003	0	7.295e-05	0	0.0002	0	0	0.0001	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	6554.32	70	chr1	16579293	.	A	G	6554.32	.	AC=19;AF=0.500;AN=38;BaseQRankSum=1.87;DP=1441;ExcessHet=36.0830;FS=139.268;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.526;MQ=35.97;MQRankSum=0.877;QD=5.04;ReadPosRankSum=-7.480e-01;SOR=8.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,12:54:99:0|1:16579293_A_G:351,0,1727:16579293	0	0	19	2
chr1	16579294	16579294	T	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	528	581	397	16	0	429	0.269642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4727	0.4891	0.4739	0.4729	0.4642	0.4729	0.4624	0.4674	0.0008837	23	26028	rs4127115	2.497e-05	6.823e-05	2.58e-05	2.42e-05	0.0003	1.689e-05	1.419e-05	0.0001	0.0001	0.0002	0	8.871e-05	0.0003	0	0	8.967e-06	2.286e-05	0	0.0002	0.0010	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0003	0	0.0001	0	0.0004	0.0002	0	0.0001	0	0.0002	.	.	.	0.626	0.11263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00407	.	.	.	.	.	.	.	0.0016256273	0.00019	T	.	.	.	.	.	.	.	.	.	0.015250635719149447	0.01481	.	.	0.530770659447	0.43143	T	.	.	.	-0.622413	0.00106	T	-1.13183	0.00013	T	.	.	.	0.49745	0.15470	T	.	.	.	.	.	.	.	.	-6.053	0.46720	T	.	.	0.064	0.01738	B	.;.	.;.	-0.476506	0.01943	0.166	0.24072861881687246	0.01047	0.00011	0.00159	N	AEFI	0.015935	0.00328	N	.	.	.	.	.	.	6.49849957978273E-4	0.07527	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.898000	0.04213	-20.000000	0.00162	-1.466000	0.01076	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	445	0.79730	.;.	.	.	.	.	.	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	0.5	6554.32	70	chr1	16579294	.	T	C	6554.32	.	AC=19;AF=0.500;AN=38;BaseQRankSum=-5.460e+00;DP=1432;ExcessHet=36.0830;FS=139.268;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.526;MQ=35.97;MQRankSum=0.877;QD=5.04;ReadPosRankSum=-9.680e-01;SOR=8.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,12:54:99:0|1:16579293_A_G:351,0,1727:16579293	0	0	19	2
chr1	16579305	16579305	G	A	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	547	597	363	15	0	393	0.247637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4396	0.4635	0.4334	0.4429	0.4244	0.4403	0.4359	0.4340	0.0011142	29	26028	rs10907245	0.0016	0.0023	0.0015	0.0017	0.0061	0.0015	0.0015	0.0053	0.0050	0.0061	0.0009	0.0028	0.0005	0.0002	0.0027	0.0016	0.0013	0.0019	0.0040	0.0094	0.0041	0.0039	0.0113	0.0037	0.0036	0.0105	0.0101	0.0113	0	0.0013	0.0026	0.0004	9.697e-05	0	0.0016	0.0049	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	3659.58	71	chr1	16579305	.	G	A	3659.58	.	AC=18;AF=0.429;AN=42;BaseQRankSum=3.29;DP=1401;ExcessHet=30.0624;FS=127.752;InbreedingCoeff=-0.7505;MLEAC=18;MLEAF=0.429;MQ=35.79;MQRankSum=0.355;QD=3.02;ReadPosRankSum=-7.570e-01;SOR=8.098	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,5:50:69:0|1:16579305_G_A:69,0,1860:16579305	3	0	18	0
chr1	16579308	16579308	G	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	536	678	298	10	0	318	0.189964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4169	0.4635	0.4098	0.4442	0.3977	0.4141	0.4226	0.4033	0.0009605	25	26028	rs10796417	2.988e-06	0.0001	2.05e-06	3.875e-06	1.313e-05	8e-07	2.2e-07	.	.	0	0	4.366e-05	0	0	0	1.416e-06	0	1.313e-05	4.685e-05	0.0005	7.844e-05	1.371e-05	7.453e-05	2.144e-05	1.549e-05	2.876e-05	1.88e-05	0	0	6.652e-05	0.0003	0	0	0	7.453e-05	0	0	.	.	.	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	0.0018868446	0.00026	T	.	.	.	.	.	.	.	.	.	0.03536828552245914	0.03483	.	.	0.579951882362	0.50079	T	.	.	.	-0.382433	0.03007	T	-0.787115	0.02245	T	.	.	.	0.920308	0.71149	D	.	.	.	.	.	.	.	.	-9.586	0.71394	D	.	.	0.175	0.38372	B	.;.	.;.	1.521589	0.19533	14.31	0.3543343570932736	0.02223	0.00520	0.02423	N	AEFI	0.030698	0.03141	N	.	.	.	.	.	.	6.38433801032419E-4	0.07505	0.183328	0.03972	0	0.096583	0.02683	0	0.083675	0.02720	0	0.185264	0.04187	1	.	.	.	.	.	0.649000	0.24529	-0.171000	0.11226	0.423000	0.20817	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	.	.	.	445	0.79730	.;.	.	.	.	.	.	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	0.3095	1830.34	67	chr1	16579308	.	G	C	1830.34	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.233;DP=1379;ExcessHet=11.8493;FS=101.562;InbreedingCoeff=-0.4491;MLEAC=13;MLEAF=0.310;MQ=35.77;MQRankSum=0.401;QD=2.26;ReadPosRankSum=-6.640e-01;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,5:50:69:0|1:16579305_G_A:69,0,1865:16579305	8	0	13	0
chr1	16757526	16757526	C	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon14:c.G1900C:p.A634P,	.	.	384	766	370	1	1	373	0.195378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	1.0	D	0.999	D	0.001	D	.	.	.	.	.	.	-0.707	T	0.205	T	0.394	0.985	9.021	.	0.502	4.380	6.740	0.404	.	.	.	0.1053	0.0655	0.1365	0.0133	0.1064	0.1147	0.0930	0.1251	0.0830326	12837	154602	rs2446543	6.846e-06	7.593e-05	8.174e-06	5.505e-06	3.482e-05	3.46e-06	2.52e-06	9.25e-06	4.56e-06	2.99e-05	0	0	0	0	0	5.4e-06	0	3.482e-05	2.629e-05	0.0002	3.858e-05	1.344e-05	6.547e-05	8.14e-06	5.14e-06	1.172e-05	6.25e-06	0	0	6.547e-05	0	0	0	0	4.416e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.2143	10056.01	467	chr1	16757526	.	C	G	10056.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-1.907e+00;DP=7504;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=40.50;MQRankSum=-1.159e+00;QD=2.85;ReadPosRankSum=0.494;SOR=0.679	GT:AD:DP:GQ:PL	0/1:245,69:314:99:1214,0,6696	12	0	9	0
chr1	16759590	16759590	-	C	exonic	MST1L	.	frameshift insertion	MST1L:NM_001271733:exon7:c.811dupG:p.A271Gfs*26,	.	.	687	520	144	171	0	486	0.31848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0027	0.0007	0.0003	0	0.0010	0	0.0007	0.0097587	254	26028	rs200532237	0.0004	0.0070	0.0004	0.0004	0.0030	0.0003	0.0003	0.0023	0.0021	0.0030	0.0007	0.0005	0.0006	9.298e-05	0.0004	0.0002	0.0007	0.0008	0.0020	0.0100	0.0019	0.0021	0.0059	0.0016	0.0015	0.0045	0.0039	0.0059	0.0022	0.0010	0.0037	0.0009	0.0016	0	0.0008	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	13930.12	129	chr1	16759590	.	G	GC	13930.12	.	AC=26;AF=0.619;AN=42;BaseQRankSum=5.56;DP=1816;ExcessHet=4.5793;FS=24.066;InbreedingCoeff=-0.2117;MLEAC=26;MLEAF=0.619;MQ=45.00;MQRankSum=-3.164e+00;QD=9.41;ReadPosRankSum=-3.895e+00;SOR=1.240	GT:AD:DP:GQ:PL	0/1:77,20:97:99:397,0,2455	2	7	12	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.001	D	.	.	.	.	.	.	-0.445	T	0.276	T	0.209	2.959	15.86	.	0.502	5.217	6.740	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	0.1905	3282.72	39	chr1	16760446	.	C	T	3282.72	.	AC=8;AF=0.190;AN=42;BaseQRankSum=2.49;DP=5013;ExcessHet=3.5521;FS=14.600;InbreedingCoeff=-0.2395;MLEAC=8;MLEAF=0.190;MQ=45.78;MQRankSum=-1.759e+00;QD=1.55;ReadPosRankSum=-3.770e-01;SOR=2.106	GT:AD:DP:GQ:PL	0/1:258,32:290:99:141,0,7185	13	0	8	0
chr1	16760964	16760964	A	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon2:c.T206C:p.M69T,	.	.	338	890	294	0	0	294	0.141755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.191	B	0.089	B	0.081	N	.	.	.	.	.	.	-0.989	T	0.089	T	0.142	-0.797	0.685	.	0.000	1.701	.	0.053	.	.	.	0.1542	0.1357	0.2256	0.0314	0.1520	0.1481	0.1473	0.2082	0.121253	18746	154602	rs11576695	6.842e-07	2.599e-05	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	6.568e-06	5.909e-05	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	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	0.125	5178.17	639	chr1	16760964	.	A	G	5178.17	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-1.286e+00;DP=13143;ExcessHet=1.1607;FS=0.760;InbreedingCoeff=-0.1507;MLEAC=5;MLEAF=0.125;MQ=56.59;MQRankSum=2.89;QD=1.46;ReadPosRankSum=0.558;SOR=0.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:561,130:691:99:.:.:1680,0,17260	15	0	5	1
chr1	19239888	19239888	A	G	exonic	EMC1	.	nonsynonymous SNV	EMC1:NM_001271429:exon7:c.T818C:p.L273S	Cerebellar atrophy, visual impairment, and psychomotor retardation, Autosomal recessive	.	429	1082	11	0	0	11	0.00505747	.	.	1153394	not_provided|Retinal_dystrophy|Cerebellar_atrophy,_visual_impairment,_and_psychomotor_retardation%3B	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MONDO:MONDO:0014811,MedGen:C4225172,OMIM:616875	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.42	T	0.979	D	0.79	P	0.000	D	1.000	D	1.67	L	1.39	T	-1.131	T	0.021	T	0.822	4.281	22.4	5.72	2.174	8.671	14.844	0.212	.	0.0002	0.0203674	0.0126	9.626e-05	0.0354	0.0698	0.0014	0.0004	0.0121	0.0282	0.0112547	1740	154602	rs3850531	0.0047	0.0048	0.0043	0.0052	0.0683	0.0047	0.0046	0.0661	0.0653	0.0003	0.0286	0	0.0683	0.0019	0.0014	0.0002	0.0060	0.0266	0.0047	0.0047	0.0039	0.0055	0.0656	0.0044	0.0043	0.0598	0.0576	0.0002	0	0.0114	0	0.0656	0.0008	0	0.0001	0.0028	0.0340	0.096	0.78490	T	0.002	0.79402	D	0.964	0.55854	D	0.621	0.51426	P	0.000096	0.51296	D	0.134805	0.999951	0.52396	D	2.125	0.59049	M	1.39	0.35031	T	-1.69	0.45042	N	0.268	0.46928	-1.1305	0.01758	T	0.021	0.08917	T	10	0.0030947328	0.00051	T	.	.	.	0.212	0.50341	.	.	.	.	0.8386410710141124	0.83824	1.12563053884	0.78449	0.509719252586	0.40184	T	0.016819	0.13832	T	-0.207494	0.19734	T	-0.0173732	0.69202	D	0.0554962634532404	0.06440	T	0.865513	0.56452	D	0.31484368	0.54201	0.21973296	0.46724	0.28136128	0.51179	0.21973296	0.46723	-4.597	0.33015	T	0.3831905074263139	0.47734	0.720	0.78596	P	.;.;.	.;.;.	4.440638	0.68943	25.3	0.99816337348890893	0.89973	0.97460	0.74892	D	AEFBHCI	0.910182	0.86777	D	0.575327708079049	0.71638	5.681263	0.628786310720312	0.77041	6.603354	0.999999990037617	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.72	5.72	0.89380	8.697000	0.91034	9.354000	0.80321	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	1.0:0.0:0.0:0.0	14.844	0.69881	778	0.48011	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3579.11	38	chr1	19239888	.	A	G	3579.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.680e-01;DP=1096;ExcessHet=0.1072;FS=2.266;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.17;ReadPosRankSum=0.791;SOR=0.579	GT:AD:DP:GQ:PL	0/1:132,100:232:99:2295,0,3271	19	0	2	0
chr1	24401345	24401345	G	A	exonic	STPG1	.	nonsynonymous SNV	STPG1:NM_001199012:exon2:c.C44T:p.P15L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.004	B	0.003	B	0.065	N	1.000	N	.	.	.	.	-1.014	T	0.076	T	0.024	-0.621	1.243	-0.576	-0.098	0.062	2.775	0.007	0.00432096741897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.29158	T	0.295	0.20680	T	0.003	0.11197	B	0.003	0.08700	B	0.065375	0.02188	N	2.169780	1	0.08975	N	.	.	.	.	.	.	-0.89	0.24026	N	0.155	0.16028	-1.0142	0.25593	T	0.076	0.30645	T	8	0.056228608	0.06270	T	0.004321	0.10498	T	0.007	0.00512	0.156	0.05964	0.0666544352282	0.05500	0.22531329309969544	0.22446	0.169743795167	0.19140	0.25752055645	0.04600	T	0.006037	0.05478	T	-0.222377	0.17669	T	-0.557205	0.16640	T	0.0602605864405632	0.07210	T	0.531447	0.17660	T	0.030617815	0.02756	0.01821541	0.00049	0.030617815	0.02755	0.01821541	0.00049	-3.113	0.11446	T	.	.	0.080	0.07554	B	.;.	.;.	0.169857	0.05591	2.045	0.2034670914663354	0.00728	0.02158	0.06340	N	AEFGBI	0.041318	0.06266	N	-1.09876659058342	0.06667	0.3075268	-1.19144497038589	0.06052	0.2901584	0.934272160087589	0.27164	0.736574	0.97449	0	0.633656	0.55848	0	0.732669	0.93749	0	0.655142	0.61905	0	.	.	3.58	-0.576	0.11143	-0.070000	0.11483	0.749000	0.21222	-0.135000	0.12811	0.000000	0.06391	0.003000	0.18671	0.002000	0.04165	0.3578:0.0:0.4276:0.2145	2.775	0.05017	725	0.54935	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1410.98	37	chr1	24401345	.	G	A	1410.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.30;DP=846;ExcessHet=0.0000;FS=0.643;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.69;ReadPosRankSum=0.714;SOR=0.767	GT:AD:DP:GQ:PL	0/1:73,59:132:99:1425,0,1779	20	0	1	0
chr1	24669337	24669337	C	G	exonic	SRRM1	.	nonsynonymous SNV	SRRM1:NM_001366584:exon13:c.C1699G:p.R567G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.996	D	0.992	D	0.000	D	1.000	D	1.59	L	1.39	T	-0.799	T	0.208	T	0.688	3.927	19.98	5.85	2.767	6.904	20.154	0.196	0.0162432211669	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.014	0.74150	D	0.798	0.44840	P	0.174	0.35540	B	0.000007	0.62929	D	0.000000	0.999999	0.58761	D	2.42	0.70002	M	1.39	0.33842	T	-2.82	0.59545	D	0.561	0.60241	-0.7990	0.55203	T	0.208	0.56717	T	10	0.5612998	0.64802	D	0.016243	0.37399	T	0.196	0.47777	.	.	0.24933006939	0.24537	0.2817500770420523	0.28088	0.471874428861	0.46435	0.612102866173	0.54613	T	0.252546	0.62295	T	0.0713362	0.61011	D	-0.135307	0.60522	T	0.968237996101379	0.68175	D	0.905309	0.67274	D	0.32374224	0.54954	0.5817143	0.75752	0.32374224	0.54954	0.5817143	0.75753	-6.43	0.49744	T	.	.	0.454	0.64709	A	.;.;.;.	.;.;.;.	4.363964	0.67135	25.1	0.99519280340743144	0.69161	0.99405	0.95607	D	AEFDGBI	0.906235	0.85875	D	0.623172591966422	0.74641	6.16759	0.682434138118654	0.81047	7.435987	0.999999999999375	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.85	5.85	0.93663	7.178000	0.77202	4.005000	0.41109	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.921000	0.45669	0.0:1.0:0.0:0.0	20.154	0.98100	713	0.56348	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	125.98	33	chr1	24669337	.	C	G	125.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.111e+00;DP=1001;ExcessHet=0.0000;FS=272.753;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.57;ReadPosRankSum=1.83;SOR=8.121	GT:AD:DP:GQ:PL	0/1:167,54:224:99:140,0,2863	20	0	1	0
chr1	26282323	26282323	A	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	33415.17	33	chr1	26282323	.	A	G,*	33415.17	.	AC=30,8;AF=0.714,0.190;AN=42;BaseQRankSum=0.532;DP=976;ExcessHet=0.6776;FS=0.923;InbreedingCoeff=-0.1053;MLEAC=30,8;MLEAF=0.714,0.190;MQ=60.00;MQRankSum=0.00;QD=31.59;ReadPosRankSum=-6.110e-01;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,42,0:42:99:1|1:26282270_C_T:1852,126,0,1852,126,1852:26282270	0	9	4	0
chr1	26282334	26282341	TGGGGCCG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	9122.57	35	chr1	26282334	.	TGGGGCCG	*,T	9122.57	.	AC=3,13;AF=0.071,0.310;AN=42;BaseQRankSum=0.857;DP=1017;ExcessHet=1.5101;FS=6.482;InbreedingCoeff=-0.0096;MLEAC=3,13;MLEAF=0.071,0.310;MQ=60.00;MQRankSum=0.00;QD=14.23;ReadPosRankSum=-6.330e-01;SOR=1.134	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:23,0,21:44:99:0|1:26282270_C_T:759,828,1780,0,952,889:26282270	8	0	0	0
chr1	26282344	26282361	ACCGGGACCGGGACTGGG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	9155.21	37	chr1	26282344	.	ACCGGGACCGGGACTGGG	*,A	9155.21	.	AC=3,13;AF=0.071,0.310;AN=42;BaseQRankSum=1.27;DP=1066;ExcessHet=1.5101;FS=6.447;InbreedingCoeff=-0.0096;MLEAC=3,13;MLEAF=0.071,0.310;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=-2.630e-01;SOR=1.188	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:28,0,21:49:99:0|1:26282270_C_T:744,828,2001,0,1173,1110:26282270	8	0	0	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	11163.93	50	chr1	26282357	.	CTGGGGCCGGG	C,*	11163.93	.	AC=10,16;AF=0.238,0.381;AN=42;BaseQRankSum=0.187;DP=1169;ExcessHet=10.5502;FS=6.433;InbreedingCoeff=-0.4135;MLEAC=10,16;MLEAF=0.238,0.381;MQ=60.00;MQRankSum=0.00;QD=11.09;ReadPosRankSum=0.857;SOR=1.118	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,28,21:49:99:0|1:26282270_C_T:2051,840,789,1173,0,1110:26282270	1	0	7	0
chr1	26282374	26282376	ACC	0	exonic	UBXN11	.	.	.	.	.	400	608	276	45	193	559	0.231353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14396.36	49	chr1	26282374	.	ACC	*,A	14396.36	.	AC=10,12;AF=0.294,0.353;AN=34;BaseQRankSum=-8.440e-01;DP=1160;ExcessHet=1.0911;FS=8.398;InbreedingCoeff=-0.1667;MLEAC=11,13;MLEAF=0.324,0.382;MQ=60.00;MQRankSum=0.00;QD=16.49;ReadPosRankSum=0.737;SOR=0.276	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,28,0:55:99:0|1:26282270_C_T:1094,0,999,1176,1084,2259:26282270	1	0	5	4
chr1	26282386	26282392	GCCGGGA	0	exonic	UBXN11	.	.	.	.	.	476	531	212	27	276	542	0.200301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	11324.73	50	chr1	26282386	.	GCCGGGA	*,G	11324.73	.	AC=12,10;AF=0.353,0.294;AN=34;BaseQRankSum=0.255;DP=1262;ExcessHet=1.0911;FS=8.945;InbreedingCoeff=-0.1667;MLEAC=13,11;MLEAF=0.382,0.324;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=2.17;SOR=0.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:29,0,28:57:99:0|1:26282270_C_T:1088,1176,2379,0,1204,1119:26282270	1	1	5	4
chr1	27353834	27353834	-	CT	exonic	SYTL1	.	frameshift insertion	SYTL1:NM_001193308:exon15:c.1671_1672insCT:p.A559Wfs*32	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	801.94	36	chr1	27353834	.	C	CCT	801.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.080e-01;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.65;ReadPosRankSum=-4.980e-01;SOR=0.836	GT:AD:DP:GQ:PL	0/1:22,21:43:99:816,0,861	20	0	1	0
chr1	27547938	27547938	C	T	exonic	AHDC1	.	nonsynonymous SNV	AHDC1:NM_001029882:exon6:c.G4178A:p.G1393D	Xia-Gibbs syndrome, Autosomal dominant	.	428	1090	4	0	0	4	0.0018315	.	.	696667	AHDC1-related_disorder|not_provided|AHDC1-related_intellectual_disability_-_obstructive_sleep_apnea_-_mild_dysmorphism_syndrome	.|MedGen:C3661900|MONDO:MONDO:0014358,MedGen:C4014419,OMIM:615829,Orphanet:412069	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.04	D	0.998	D	0.961	D	0.000	D	1.000	D	0.55	N	0.77	T	-0.753	T	0.193	T	0.681	2.556	14.51	5.67	2.697	3.065	18.542	0.179	0.0236608352276	7.7e-05	0.000399361	0.0006	0.0001	0.0004	0	0	0.0001	0.0013	0.0054	0.0005175	80	154602	rs148277570	0.0003	0.0003	0.0002	0.0004	0.0033	0.0003	0.0003	0.0030	0.0029	0	0.0002	4.069e-05	0	0	0.0033	8.133e-05	0.0004	0.0033	0.0002	0.0002	0.0001	0.0002	0.0031	0.0001	9.698e-05	0.0019	0.0015	4.813e-05	0	6.536e-05	0	0	0	0.0034	8.823e-05	0	0.0031	0.008	0.58626	D	0.027	0.55341	D	0.998	0.73220	D	0.961	0.70482	D	0.000000	0.84330	D	0.000000	0.999839	0.49637	D	0.695	0.17993	N	0.77	0.49642	T	-0.41	0.14000	N	0.449	0.52029	-0.7528	0.57789	T	0.193	0.54550	T	10	0.0105754435	0.00235	T	0.023661	0.46630	T	0.179	0.44899	.	.	0.117191471859	0.11215	0.36060865273205067	0.35974	1.76187023795	0.91143	0.821851015091	0.85312	D	0.034867	0.23493	T	-0.29674	0.08970	T	-0.200179	0.54630	T	0.0346778382023893	0.02754	T	0.774523	0.40643	T	0.2256306	0.45228	0.34661084	0.60327	0.2256306	0.45228	0.34661084	0.60326	-4.633	0.32583	T	.	.	0.439	0.61649	A	.;.;.;.;.	.;.;.;.;.	4.336596	0.66495	25.0	0.99550060458433642	0.71086	0.90399	0.51544	D	AEFDBI	0.416376	0.48486	N	0.507976588863006	0.67560	5.098009	0.543992680090711	0.70980	5.58576	0.99999993523947	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.67	5.67	0.87673	3.208000	0.50816	7.630000	0.62690	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.636000	0.32315	0.0:1.0:0.0:0.0	18.542	0.90984	424	0.81215	.;.;.;.;.	.	.	.	.	.	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	0.02381	1670.98	48	chr1	27547938	.	C	T	1670.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.336e+00;DP=833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.53;ReadPosRankSum=0.314;SOR=0.737	GT:AD:DP:GQ:PL	0/1:54,61:115:99:1685,0,1516	20	0	1	0
chr1	27879739	27879739	T	C	exonic	THEMIS2	.	nonsynonymous SNV	THEMIS2:NM_001105556:exon3:c.T331C:p.F111L	.	.	426	1090	6	0	0	6	0.00274474	.	.	696674	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.99	D	0.814	P	0.000	D	1.000	N	2.42	M	2.5	T	-0.971	T	0.051	T	0.312	2.165	13.20	3.55	0.743	2.819	7.907	0.173	.	0.0098	0.00259585	0.0083	0.0012	0.0053	0.0001	0.0086	0.0127	0.0099	0.0015	0.0083246	1287	154602	rs41284294	0.0098	0.0098	0.0100	0.0096	0.0112	0.0097	0.0096	0.0110	0.0109	0.0019	0.0061	0.0154	0	0.0101	0.0021	0.0112	0.0079	0.0018	0.0073	0.0073	0.0076	0.0071	0.0114	0.0070	0.0068	0.0107	0.0104	0.0014	0.0110	0.0070	0.0153	0	0.0084	0.0102	0.0114	0.0062	0.0019	0.005	0.63226	D	0.048	0.55759	D	0.869	0.63424	P	0.327	0.58796	B	0.000000	0.84330	D	0.050363	1	0.81001	D	3.03	0.86425	M	2.5	0.14408	T	-3.61	0.74582	D	0.762	0.76019	-0.9710	0.36988	T	0.051	0.21806	T	10	0.005374044	0.00118	T	.	.	.	0.173	0.43840	0.53	0.63707	0.18995819373	0.18626	0.7726915594272604	0.77219	0.929494865286	0.71766	0.562230110168	0.47582	T	0.208083	0.56791	T	-0.477087	0.00769	T	-0.447048	0.28023	T	0.059904951549998	0.07154	T	0.750125	0.37153	T	0.48391196	0.66137	0.34720334	0.60377	0.48391196	0.66137	0.34720334	0.60377	-1.819	0.04031	T	.	.	0.933	0.85237	P	.;.;.;.	.;.;.;.	2.392179	0.30723	18.52	0.98655235456882096	0.44247	0.89651	0.50252	D	AEFDBHCI	0.317954	0.42180	N	-0.0552436688864967	0.39368	2.320491	-0.119139896651142	0.34619	1.993401	0.999997042914475	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.7	3.55	0.39770	2.830000	0.47837	6.044000	0.53039	-0.136000	0.12710	0.999000	0.42656	1.000000	0.68203	0.010000	0.09038	0.1833:0.0:0.0:0.8167	7.907	0.28932	327	0.86637	.;.;.;CABIT domain	FAM76A	Thyroid	.	.	rs41284294	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1507.98	33	chr1	27879739	.	T	C	1507.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.760e-01;DP=852;ExcessHet=0.0000;FS=0.611;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.92;ReadPosRankSum=-8.000e-02;SOR=0.779	GT:AD:DP:GQ:PL	0/1:86,66:152:99:1522,0,2130	20	0	1	0
chr1	28529938	28529938	G	C	exonic	RCC1	.	nonsynonymous SNV	RCC1:NM_001048194:exon2:c.G72C:p.K24N	.	.	.	.	.	.	.	.	.	0.0005	0.18	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.998	D	0.967	D	0.000	D	0.796	D	0	N	0.87	T	-0.338	T	0.360	T	0.312	3.793	19.26	0.591	0.290	0.007	6.317	0.385	0.0722973044124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.61437	D	0.013	0.92824	D	0.998	0.73220	D	0.967	0.71530	D	0.000000	0.84330	D	0.000000	0.79565	0.34444	D	0.975	0.24501	L	-1.42	0.80645	T	-2.69	0.57435	D	0.534	0.59816	-0.3382	0.73896	T	0.360	0.72216	T	10	0.3560201	0.52350	T	0.072297	0.71496	D	0.385	0.70194	0.466	0.53729	0.810979576649	0.80920	0.4355928167309696	0.43476	1.08794106341	0.77349	0.71510207653	0.69333	T	0.171459	0.51959	T	-0.0209551	0.48717	T	-0.267877	0.48035	T	0.966483950614929	0.67598	D	0.647135	0.26150	T	0.8713628	0.88969	0.54599774	0.73756	0.8713628	0.88971	0.54599774	0.73757	-4.422	0.41312	T	.	.	0.469	0.83749	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.349977	0.46200	22.3	0.9977828321055946	0.86519	0.71592	0.35080	D	AEFDBI	0.232333	0.35542	N	0.0636588868213935	0.44772	2.745291	0.054517838595966	0.42291	2.555406	0.945564337054047	0.27666	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.17	0.591	0.16648	0.093000	0.14925	1.729000	0.28315	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.991000	0.66497	0.4743:0.0:0.5257:0.0	6.317	0.20404	509	0.75304	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.06667	90.84	80	chr1	28529938	.	G	C	90.84	.	AC=2;AF=0.067;AN=30;BaseQRankSum=-1.742e+00;DP=1197;ExcessHet=0.1072;FS=189.759;InbreedingCoeff=-0.1499;MLEAC=3;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=0.48;ReadPosRankSum=0.766;SOR=8.379	GT:AD:DP:GQ:PL	0/1:74,24:100:66:66,0,1317	13	0	2	6
chr1	32817232	32817232	G	A	exonic	YARS1	.	nonsynonymous SNV	YARS1:NM_003680:exon1:c.C13T:p.P5S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.0	B	0.0	B	0.002	N	1.000	D	-0.975	N	-0.55	T	-1.020	T	0.103	T	0.133	0.923	8.758	4.31	1.350	4.448	5.585	0.101	0.0543229421079	.	.	1.652e-05	0	0	0	0	0	0.0011	6.057e-05	1.29e-05	2	154602	rs759183488	3.42e-06	3.42e-06	1.361e-06	5.501e-06	5.797e-05	1e-06	7.3e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	0	0	5.797e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0032	0	0	0.0002	0.748	0.03609	T	0.734	0.05090	T	0.0	0.02946	B	0.0	0.01387	B	0.001862	0.37789	N	0.273259	0.999568	0.20970	N	-0.28	0.03718	N	-0.55	0.71068	T	0.51	0.02898	N	0.111	0.18649	-1.0201	0.23682	T	0.103	0.37944	T	10	0.07576707	0.11752	T	0.054323	0.65813	D	0.101	0.28911	0.295	0.25881	0.755811473752	0.75359	0.4463111984427274	0.44549	0.34465612912	0.36400	0.433739125729	0.29719	T	0.095348	0.39602	T	-0.27392	0.11323	T	-0.42859	0.30094	T	0.227382585921457	0.21826	T	0.776822	0.40920	T	0.10724453	0.25360	0.081825875	0.18628	0.10724453	0.25360	0.081825875	0.18628	-2.034	0.03311	T	.	.	0.075	0.05535	B	.;.	.;.	3.061893	0.41119	21.3	0.88650255792426258	0.18144	0.38677	0.26042	N	AEFGBHCIJ	0.550602	0.56301	D	-0.348402279715296	0.27330	1.498657	-0.101781980174442	0.35319	2.041932	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.23	4.31	0.50718	4.807000	0.62267	7.497000	0.59440	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.860000	0.40782	0.2205:0.0:0.6377:0.1418	5.585	0.16554	281	0.88893	.;.	.	.	.	.	.	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	0.02381	894.98	34	chr1	32817232	.	G	A	894.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.057e+00;DP=794;ExcessHet=0.0000;FS=1.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.06;ReadPosRankSum=1.94;SOR=0.502	GT:AD:DP:GQ:PL	0/1:45,44:89:99:909,0,1050	20	0	1	0
chr1	33864375	33864375	G	C	exonic	HMGB4	.	nonsynonymous SNV	HMGB4:NM_001379301:exon1:c.G184C:p.A62P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.985	D	0.002	N	1.000	D	2.775	M	2.53	T	-0.945	T	0.096	T	0.519	3.881	19.73	3.69	0.894	5.415	7.420	0.280	0.0172210765845	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.371e-05	0.0001	1.365e-05	1.378e-05	1.713e-05	8.95e-06	7.28e-06	1.095e-05	8.83e-06	0	0	0	0	0	0	1.713e-05	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.261	0.22962	T	.	.	.	.	.	.	0.002268	0.36887	N	0.232725	1	0.81001	D	2.925	0.84406	M	2.53	0.14038	T	-0.41	0.14000	N	0.298	0.33796	-0.9447	0.41863	T	0.096	0.36133	T	10	0.31336057	0.48787	T	0.017221	0.38829	T	0.280	0.59740	0.541	0.65304	0.665216195492	0.66240	0.5095415917327302	0.50876	0.0542822596113	0.05997	0.469324588776	0.34587	T	0.075125	0.35104	T	-0.0955755	0.37154	T	-0.375064	0.36297	T	0.896214962005615	0.54790	D	0.717028	0.32946	T	0.66919404	0.76389	0.69928217	0.82285	0.66919404	0.76391	0.69928217	0.82286	-9.75	0.72402	D	.	.	0.907	0.85273	P	.;.	.;.	3.846529	0.55689	23.6	0.99787954193147543	0.87396	0.97583	0.75704	D	AEFBI	0.698134	0.65591	D	0.515974743748389	0.68034	5.161935	0.389533307943009	0.60919	4.285059	0.975632487977862	0.29651	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.58	3.69	0.41483	3.461000	0.52800	7.273000	0.57997	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.0875:0.1685:0.744:0.0	7.420	0.26238	334	0.86273	High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.08333	81.64	81	chr1	33864375	.	G	C	81.64	.	AC=2;AF=0.083;AN=24;BaseQRankSum=-3.805e+00;DP=2391;ExcessHet=0.1072;FS=275.736;InbreedingCoeff=-0.1922;MLEAC=3;MLEAF=0.125;MQ=60.00;MQRankSum=0.00;QD=0.32;ReadPosRankSum=0.719;SOR=11.733	GT:AD:DP:GQ:PL	0/1:86,35:121:23:23,0,1801	10	0	2	9
chr1	39511904	39511905	GG	-	exonic;splicing	BMP8A;BMP8A	.	frameshift deletion	BMP8A:NM_181809:exon3:c.673delG:p.H226Tfs*40,	.	.	546	26	383	566	1	1516	0.966816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1284964917	3.274e-06	4.184e-06	2.207e-06	4.319e-06	3.209e-05	8.7e-07	2.4e-07	5.1e-07	1.9e-07	0	3.209e-05	0	0	0	0	3.046e-06	0	0	9.616e-06	1.344e-05	0	2.033e-05	0.0001	0	0	.	.	0	0	0.0001	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	7775.32	8	chr1	39511903	.	CGG	TGG,C	7775.32	.	AC=32,1;AF=0.762,0.024;AN=42;BaseQRankSum=2.52;DP=302;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2724;MLEAC=32,1;MLEAF=0.762,0.024;MQ=26.98;MQRankSum=0.00;QD=26.63;ReadPosRankSum=0.072;SOR=3.721	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,9,0:9:27:.:.:286,27,0,286,27,286	0	12	8	0
chr1	43453702	43453702	C	A	exonic	HYI	.	nonsynonymous SNV	HYI:NM_001190880:exon1:c.G92T:p.G31V	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	4.04	H	-2.3	D	1.017	D	0.865	D	0.558	4.940	28.7	4.15	2.132	6.722	16.191	0.795	0.990667733111	.	.	.	.	.	.	.	.	.	.	.	.	.	rs867585712	6.302e-06	1.368e-05	9.291e-06	3.207e-06	7.77e-06	2.71e-06	1.96e-06	3.34e-06	2.42e-06	0	0	0	0	0	0	7.77e-06	0	0	1.316e-05	1.314e-05	1.286e-05	1.347e-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	0.001	0.91255	D	0.002	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.055	0.97073	H	-2.3	0.87671	D	-7.5	0.95924	D	0.883	0.88909	1.017	0.97480	D	0.865	0.95523	D	10	0.9854074	0.98792	D	0.990668	0.99966	D	0.795	0.93266	0.84	0.94602	0.946775840785	0.94621	0.9350150667510959	0.93481	0.386260784753	0.39917	0.862591922283	0.91494	D	0.595993	0.87781	D	0.191414	0.73094	D	0.0371765	0.72744	D	0.999168992042542	0.96394	D	0.983202	0.94289	D	0.9182377	0.93077	0.89609385	0.94699	0.9182377	0.93078	0.89609385	0.94699	-13.641	0.91832	D	.	.	0.745	0.74837	P	.;.;.;.;.	.;.;.;.;.	5.106593	0.85353	28.6	0.99656988494321619	0.77694	0.95835	0.66357	D	ALL	0.850884	0.76773	D	0.792359494050564	0.85623	8.632225	0.639045457352703	0.77797	6.749167	1.0	0.98316	0.441713	0.08003	0	0.484254	0.07192	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	4.15	4.15	0.47978	4.883000	0.62820	6.986000	0.57144	0.462000	0.21616	1.000000	0.71638	1.000000	0.68203	0.564000	0.30507	0.0:1.0:0.0:0.0	16.191	0.81806	798	0.45050	Xylose isomerase-like, TIM barrel domain;Xylose isomerase-like, TIM barrel domain;Xylose isomerase-like, TIM barrel domain;.;Xylose isomerase-like, TIM barrel domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	374.98	36	chr1	43453702	.	C	A	374.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.156;DP=757;ExcessHet=0.0000;FS=2.795;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.37;ReadPosRankSum=-1.007e+00;SOR=0.695	GT:AD:DP:GQ:PL	0/1:22,18:40:99:389,0,491	20	0	1	0
chr1	44725320	44725320	A	G	exonic	ARMH1	.	nonsynonymous SNV	ARMH1:NM_001145636:exon12:c.A1240G:p.M414V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.0	B	0.001	B	.	.	1.000	N	0.205	N	.	.	-1.027	T	0.039	T	0.086	0.358	5.944	-2.29	-0.490	.	4.542	0.017	0.00120763897576	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1389933790	7.146e-07	6.84e-07	1.41e-06	0	2.801e-05	0	0	.	.	0	2.801e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.18498	T	0.599	0.07972	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.1	0.08495	N	0.084	0.06059	-1.0268	0.21494	T	0.039	0.16849	T	8	0.04245031	0.02996	T	0.001208	0.01583	T	0.017	0.02790	0.184	0.09259	0.0138822411134	0.00435	0.2387538778200221	0.23789	.	.	.	.	.	0.003106	0.02504	T	-0.390459	0.02671	T	-0.676099	0.07224	T	0.0374387205231251	0.03234	T	0.309269	0.05988	T	0.043217648	0.06695	0.06091758	0.11678	0.043217648	0.06695	0.06091758	0.11677	-2.733	0.07584	T	.	.	0.064	0.01715	B	.;.	.;.	-0.963196	0.00825	0.028	0.362476570275031	0.02321	0.02531	0.07042	N	AEFBI	0.037889	0.05280	N	-1.3552832583413	0.03071	0.1365891	-1.38049672478525	0.03460	0.1614469	0.998263240296901	0.36664	0.615465	0.37627	0	0.633656	0.55848	0	0.603688	0.36954	0	0.530356	0.10902	0	.	.	4.8	-2.29	0.06419	0.151000	0.16101	-0.028000	0.12833	-0.221000	0.07976	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3768:0.3241:0.299:0.0	4.542	0.11460	0	0.99858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1749.98	33	chr1	44725320	.	A	G	1749.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.670e-01;DP=848;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=-1.200e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:76,76:152:99:1764,0,1773	20	0	1	0
chr1	46613215	46613215	G	C	exonic	MOB3C	.	nonsynonymous SNV	MOB3C:NM_145279:exon2:c.C107G:p.A36G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	3.025	M	.	.	0.264	D	0.557	D	0.741	5.819	36	5.31	2.490	9.817	17.964	0.582	0.0139583808919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.01	0.76473	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.385	0.91502	M	.	.	.	-3.89	0.72820	D	0.774	0.77132	0.264	0.86973	D	0.557	0.83845	D	9	0.6686675	0.70580	D	0.013958	0.33748	T	0.582	0.83193	0.642	0.77903	0.707347941332	0.70479	0.38905998175117595	0.38820	0.572858510513	0.53358	0.764638364315	0.76621	T	0.131582	0.46340	T	0.285581	0.81788	D	0.172441	0.81555	D	0.994002064544445	0.85055	D	0.990601	0.97065	D	0.75960207	0.81429	0.73670983	0.84438	0.75960207	0.81431	0.73670983	0.84440	-7.806	0.59740	D	.	.	0.649	0.77163	P	.;.;.	.;.;.	4.951349	0.81797	27.6	0.99793096647677015	0.87839	0.96467	0.69283	D	AEFDBHCI	0.898988	0.84287	D	0.950088505148483	0.93988	12.421	0.892121511922027	0.95220	13.41926	1.0	0.98316	0.660085	0.49399	0	0.662677	0.63036	0	0.735289	0.94003	0	0.683762	0.67416	0	.	.	5.31	5.31	0.75063	9.951000	0.98966	11.917000	0.99728	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	17.964	0.89013	173	0.93306	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	650.19	81	chr1	46613215	.	G	C	650.19	.	AC=3;AF=0.100;AN=30;BaseQRankSum=-2.295e+00;DP=2536;ExcessHet=0.3300;FS=133.457;InbreedingCoeff=-0.1712;MLEAC=4;MLEAF=0.133;MQ=60.00;MQRankSum=0.00;QD=1.27;ReadPosRankSum=1.21;SOR=10.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,50:168:99:0|1:46613214_G_C:427,0,2953:46613214	12	0	3	6
chr1	47068721	47068721	G	C	exonic	CYP4Z1	.	nonsynonymous SNV	CYP4Z1:NM_178134:exon2:c.G277C:p.V93L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.509	P	0.091	B	0.001	U	1.000	N	-0.1	N	-0.23	T	-0.961	T	0.080	T	0.188	0.324	5.759	-1.32	-0.401	0.297	6.017	0.070	0.00571534932451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.104e-06	4.104e-06	1.361e-06	6.876e-06	4.496e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.15047	T	0.51	0.10821	T	0.509	0.37289	P	0.091	0.29943	B	0.000947	0.40932	U	0.090083	1	0.08975	N	0.03	0.08032	N	-0.23	0.66652	T	-1.05	0.27463	N	0.231	0.25989	-0.9608	0.39031	T	0.080	0.31645	T	10	0.090660125	0.15813	T	0.005715	0.14802	T	0.070	0.20419	0.473	0.54859	0.0806252709748	0.07271	0.2668899465471789	0.26601	0.0458377948792	0.04975	0.368731021881	0.20650	T	0.013776	0.11851	T	-0.189012	0.22402	T	-0.509279	0.21390	T	0.257878750562668	0.23222	T	0.382662	0.09313	T	0.08081742	0.18537	0.05224828	0.08571	0.08081742	0.18537	0.05224828	0.08571	-3.037	0.10585	T	.	.	0.284	0.51643	B	.	.	-0.165280	0.03273	0.559	0.69174482232073065	0.08889	0.03040	0.07930	N	AEFGBI	0.031761	0.03458	N	-1.21325579638106	0.04806	0.2177248	-1.2755025284839	0.04763	0.2254833	8.87275919477301E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.83	-1.32	0.08721	0.142000	0.15917	-2.998000	0.03154	-0.292000	0.06281	0.075000	0.22209	0.000000	0.08366	0.314000	0.24830	0.5253:0.0:0.4747:0.0	6.017	0.18838	445	0.79730	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1524.98	33	chr1	47068721	.	G	C	1524.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.920e-01;DP=848;ExcessHet=0.0000;FS=1.284;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=1.98;SOR=0.572	GT:AD:DP:GQ:PL	0/1:86,67:153:99:1539,0,2185	20	0	1	0
chr1	50419106	50419106	G	0	exonic	DMRTA2	.	.	.	.	.	453	9	255	719	86	1779	0.98948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	13423.2	21	chr1	50419106	.	G	*,A	13423.2	.	AC=12,30;AF=0.286,0.714;AN=42;BaseQRankSum=-4.990e-01;DP=670;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=12,30;MLEAF=0.286,0.714;MQ=59.92;MQRankSum=0.00;QD=23.55;ReadPosRankSum=-7.700e-01;SOR=0.979	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,12,7:19:99:1|0:50419101_CCGGCGG_C:962,273,342,515,0,471:50419101	0	2	0	0
chr1	53461500	53461500	G	A	exonic	DMRTB1	.	nonsynonymous SNV	DMRTB1:NM_033067:exon2:c.G605A:p.R202H,	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.006	B	0.001	B	0.351	N	1.000	N	0.14	N	.	.	-1.029	T	0.028	T	0.021	1.649	11.47	-4.71	-1.046	-0.869	7.065	0.036	.	.	0.00559105	0.0022	0	8.655e-05	0.0185	0	3.036e-05	0	0.0068	0.0019599	303	154602	rs182273822	0.0009	0.0010	0.0008	0.0011	0.0204	0.0009	0.0009	0.0192	0.0187	0	2.284e-05	0	0.0204	0	0	2.256e-05	0.0012	0.0053	0.0007	0.0007	0.0005	0.0008	0.0134	0.0006	0.0005	0.0108	0.0099	0	0	0.0001	0	0.0134	0	0	2.941e-05	0.0014	0.0056	0.296	0.14694	T	0.576	0.08624	T	0.006	0.13644	B	0.001	0.04355	B	0.350693	0.04243	N	1.376760	1	0.08975	N	0.345	0.11182	N	.	.	.	-1.09	0.28290	N	0.071	0.04426	-1.0292	0.20713	T	0.028	0.12147	T	9	0.0038422048	0.00073	T	.	.	.	0.036	0.09122	.	.	0.102598925029	0.09809	0.16907982471015484	0.16827	0.563884083432	0.52807	0.276804327965	0.07051	T	0.002163	0.01566	T	-0.74219	0.00020	T	-0.823944	0.01374	T	0.00585529640216846	0.00064	T	0.435056	0.11905	T	0.027516162	0.01954	0.031507708	0.01749	0.027516162	0.01954	0.031507708	0.01748	-4.213	0.26939	T	.	.	0.086	0.10497	B	.	.	0.229764	0.06111	2.556	0.93477358703008961	0.23272	0.01590	0.05170	N	AEFBI	0.056243	0.10381	N	-1.35661326464569	0.03057	0.135959	-1.40262969277529	0.03226	0.1500323	0.00183402892679758	0.08930	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	5.11	-4.71	0.03042	-0.950000	0.03999	0.126000	0.14982	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.060000	0.15972	0.3053:0.4689:0.2258:0.0	7.065	0.24328	513	0.74941	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4787.11	33	chr1	53461500	.	G	A	4787.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.79;DP=1059;ExcessHet=0.1072;FS=1.180;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.12;ReadPosRankSum=0.423;SOR=0.765	GT:AD:DP:GQ:PL	0/1:111,113:224:99:2774,0,2514	19	0	2	0
chr1	53464679	53464679	C	T	exonic	DMRTB1	.	nonsynonymous SNV	DMRTB1:NM_033067:exon3:c.C793T:p.P265S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.996	D	0.896	P	0.010	N	0.983	N	1.995	M	0.48	T	-0.735	T	0.275	T	0.314	2.523	14.40	4.5	2.493	0.614	14.417	0.122	.	.	0.0091853	0.0032	0.0130	0.0006	0.0189	0	3.142e-05	0	0.0054	0.0029624	458	154602	rs75818218	0.0013	0.0013	0.0012	0.0013	0.0207	0.0012	0.0012	0.0195	0.0190	0.0127	0.0005	0	0.0207	0	0	2.35e-05	0.0025	0.0049	0.0040	0.0040	0.0037	0.0043	0.0140	0.0038	0.0037	0.0114	0.0106	0.0118	0	0.0010	0	0.0140	0	0	2.947e-05	0.0043	0.0054	0.112	0.28900	T	0.155	0.31936	T	0.996	0.68779	D	0.896	0.63555	P	0.009992	0.30113	N	0.271361	0.983349	0.24892	N	1.59	0.40313	L	0.48	0.55945	T	-1.96	0.45404	N	0.294	0.33250	-0.7352	0.58700	T	0.275	0.64670	T	10	0.00580132	0.00129	T	.	.	.	0.122	0.33800	.	.	0.371383927776	0.36753	0.25444471842682564	0.25358	1.33056252263	0.83634	0.376392602921	0.21744	T	0.022282	0.17204	T	-0.446255	0.01188	T	-0.398854	0.33517	T	0.0379303103157592	0.03320	T	0.547445	0.18775	T	0.08217487	0.18918	0.18491988	0.41574	0.08217487	0.18917	0.18491988	0.41573	-6.882	0.53166	T	.	.	0.159	0.35056	B	.	.	0.952862	0.13291	9.792	0.96807365448538218	0.31172	0.28180	0.23483	N	AEFDBI	0.076982	0.15500	N	0.0807430689633782	0.45565	2.810915	-0.081057326040277	0.36174	2.101823	0.991041321933712	0.32354	0.446893	0.09132	0	0.547309	0.14657	0	0.578056	0.29568	0	0.530356	0.10902	0	.	.	4.5	4.5	0.54382	0.515000	0.22507	-1.876000	0.04569	0.599000	0.40250	0.004000	0.16614	0.000000	0.08366	0.328000	0.25156	0.0:1.0:0.0:0.0	14.417	0.66730	502	0.75873	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1335.11	34	chr1	53464679	.	C	T	1335.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.914;DP=796;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=0.314;SOR=0.646	GT:AD:DP:GQ:PL	0/1:49,24:73:99:586,0,1266	19	0	2	0
chr1	54731671	54731671	C	G	exonic	TTC4	.	nonsynonymous SNV	TTC4:NM_004623:exon7:c.C867G:p.D289E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	D	2.965	M	4.67	T	-1.199	T	0.027	T	0.842	3.788	19.23	3.98	1.418	1.111	8.739	0.378	0.0243060944425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.114	0.36765	T	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999987	0.54805	D	2.845	0.82663	M	4.67	0.01735	T	-3.8	0.71762	D	0.919	0.92200	-1.1989	0.00158	T	0.027	0.11397	T	9	0.8202367	0.81233	D	0.024306	0.47297	T	0.378	0.69612	.	.	0.712588612948	0.71007	0.7962610980422464	0.79579	0.281092337101	0.30582	0.634518146515	0.57785	T	0.121867	0.44513	T	0.125972	0.66967	D	-0.0568258	0.66552	D	0.988267600536346	0.78620	D	0.832317	0.50011	T	0.5333388	0.69020	0.4358905	0.67060	0.5333388	0.69021	0.4358905	0.67060	-10.461	0.76623	D	.	.	0.851	0.79818	P	.	.	3.974577	0.58384	24.0	0.99635700620103684	0.76326	0.90224	0.51232	D	AEFBI	0.201539	0.32819	N	0.609138981253593	0.73751	6.01769	0.514774247672132	0.68983	5.295928	0.0349433412993405	0.14177	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.88	3.98	0.45383	1.180000	0.31614	3.328000	0.37603	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.8263:0.0:0.1737	8.739	0.33708	833	0.38804	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	52.1	83	chr1	54731671	.	C	G	52.1	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.857e+00;DP=1463;ExcessHet=0.0000;FS=194.764;InbreedingCoeff=-0.0310;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.35;ReadPosRankSum=1.13;SOR=8.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:114,35:152:66:.:.:66,0,2643	20	0	1	0
chr1	62114167	62114169	GAG	-	exonic	PATJ	.	nonframeshift deletion	PATJ:NM_001350145:exon35:c.4576_4578del:p.E1527del	.	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00738818	0.0026	0	0.0003	0.0327	0	0.0003	0.0033	0.0008	0.0003842	10	26028	rs149912818	0.0008	0.0008	0.0008	0.0008	0.0207	0.0008	0.0007	0.0196	0.0191	0	0.0001	3.826e-05	0.0207	0.0001	0.0003	0.0001	0.0016	0.0007	0.0013	0.0013	0.0011	0.0015	0.0325	0.0011	0.0011	0.0285	0.0269	0	0	0	0	0.0325	0.0002	0	0.0002	0.0009	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3314.94	163	chr1	62114166	.	TGAG	T	3314.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.084;DP=1339;ExcessHet=0.0000;FS=1.213;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.09;ReadPosRankSum=-5.910e-01;SOR=0.720	GT:AD:DP:GQ:PL	0/1:80,85:165:99:3329,0,3099	20	0	1	0
chr1	67127228	67127228	T	-	exonic	C1orf141	.	frameshift deletion	C1orf141:NM_001276351:exon3:c.13delA:p.I5Sfs*2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1304111399	2.546e-05	2.736e-05	2.739e-05	2.351e-05	0.0014	1.879e-05	1.64e-05	0.0007	0.0005	3.005e-05	0	0	0	0	0.0014	1.805e-05	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2685.94	34	chr1	67127227	.	AT	A	2685.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.048e+00;DP=867;ExcessHet=0.0000;FS=0.568;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.44;ReadPosRankSum=-8.890e-01;SOR=0.781	GT:AD:DP:GQ:PL	0/1:72,102:174:99:2700,0,1756	20	0	1	0
chr1	74331517	74331517	T	C	exonic	FPGT-TNNI3K;TNNI3K	.	nonsynonymous SNV	TNNI3K:NM_015978:exon6:c.T512C:p.L171S	.	.	422	1092	8	0	0	8	0.00364964	.	.	1274643	not_provided|TNNI3K-related_disorder|not_specified	MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.73	H	-1.57	D	0.825	D	0.782	D	0.964	2.930	15.77	5.3	2.228	7.113	15.060	0.823	0.137056928348	0.0014	0.000399361	0.0019	0.0003	0.0002	0	0.0067	0.0023	0.0012	0.0015	0.0015782	244	154602	rs6685961	0.0016	0.0016	0.0015	0.0017	0.0019	0.0016	0.0015	0.0017	0.0016	0.0001	0.0002	0.0001	2.52e-05	0.0064	0.0014	0.0016	0.0011	0.0019	0.0017	0.0017	0.0013	0.0021	0.0022	0.0015	0.0014	0.0019	0.0018	0.0003	0	0.0001	0	0	0.0075	0	0.0022	0.0005	0.0017	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000003	0.62929	D	0.000000	0.999978	0.53665	D	4.21	0.97867	H	-1.57	0.81900	D	-1.47	0.84035	N	0.962	0.97426	0.825	0.94722	D	0.782	0.92582	D	10	0.0842258	0.14094	T	0.137057	0.81954	D	0.823	0.94353	.	.	0.928103106811	0.92737	0.829820379164502	0.88937	0.209520041856	0.23420	.	.	.	0.129496	0.45781	T	0.105013	0.64830	D	0.378334	0.91369	D	0.141161201346818	0.16375	T	0.905909	0.67374	D	0.4214765	0.62190	0.55142474	0.74061	0.4214765	0.62190	0.55142474	0.74062	-12.476	0.87092	D	0.6818530659903429	0.75835	0.971	0.89712	P	.;.;.;.	.;.;.;.	4.218686	0.63791	24.6	0.99797220000800857	0.88194	0.98765	0.86563	D	AEFI	0.777398	0.71022	D	0.792859864049708	0.85658	8.641869	0.654091549023629	0.78916	6.973497	0.995566134134972	0.34196	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.3	5.3	0.74745	7.081000	0.76522	5.033000	0.46843	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.153000	0.20410	0.0:0.0:0.0:1.0	15.060	0.71608	934	0.15400	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1012.98	46	chr1	74331517	.	T	C	1012.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.589e+00;DP=848;ExcessHet=0.0000;FS=2.303;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.04;ReadPosRankSum=-3.640e-01;SOR=0.508	GT:AD:DP:GQ:PL	0/1:76,50:126:99:1027,0,1853	20	0	1	0
chr1	77935995	77935995	G	C	exonic	NEXN	.	nonsynonymous SNV	NEXN:NM_001172309:exon10:c.G1232C:p.R411T	Cardiomyopathy, dilated, 1CC, Autosomal dominant;Cardiomyopathy, hypertrophic, 20, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3414299	Hypertrophic_cardiomyopathy_2	MONDO:MONDO:0007266,MedGen:C1861864,OMIM:115195	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	0.47	T	0.973	D	0.648	P	0.000	D	1.000	D	1.735	L	0.31	T	-0.963	T	0.154	T	0.348	4.133	21.3	6.03	2.868	6.514	13.716	0.138	0.0164858304763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.56456	D	0.046	0.49120	D	0.973	0.57599	D	0.585	0.50320	P	0.000023	0.55875	D	0.000000	0.905979	0.36288	D	2.015	0.55033	M	0.19	0.60236	T	-1.01	0.29933	N	0.455	0.49237	-0.9629	0.38625	T	0.154	0.48378	T	10	0.34226173	0.51261	T	0.016486	0.37771	T	0.138	0.37187	0.392	0.41606	0.693294191124	0.69065	0.13722819317445287	0.13646	0.192239442232	0.21553	0.485696047544	0.36842	T	0.018272	0.14759	T	-0.0193476	0.48946	T	-0.265568	0.48267	T	0.786236812373274	0.45445	D	0.978102	0.92255	D	0.10524542	0.24882	0.1166717	0.28166	0.10524542	0.24882	0.1166717	0.28165	-6.321	0.50449	T	0.2120513649046057	0.28444	0.679	0.72087	P	.;.	.;.	4.374991	0.67387	25.1	0.9810877380999008	0.38334	0.98337	0.81764	D	AEFBI	0.814499	0.73671	D	0.543291857114929	0.69675	5.390713	0.620374817542519	0.76421	6.487894	0.998533369466999	0.37148	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	6.03	6.03	0.97798	6.641000	0.74179	8.621000	0.77811	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0699:0.0:0.9301:0.0	13.716	0.62178	725	0.54935	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2105	335.55	22	chr1	77935995	.	G	C,A	335.55	.	AC=4,4;AF=0.105,0.105;AN=38;BaseQRankSum=-2.969e+00;DP=769;ExcessHet=3.5521;FS=215.270;InbreedingCoeff=-0.2726;MLEAC=4,4;MLEAF=0.105,0.105;MQ=60.00;MQRankSum=0.00;QD=1.09;ReadPosRankSum=0.238;SOR=8.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,7,0:34:14:0|1:77935995_G_C:14,0,974,95,993,1088:77935995	11	0	4	2
chr1	77935995	77935995	G	A	exonic	NEXN	.	nonsynonymous SNV	NEXN:NM_001172309:exon10:c.G1232A:p.R411K	Cardiomyopathy, dilated, 1CC, Autosomal dominant;Cardiomyopathy, hypertrophic, 20, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.97	T	0.148	B	0.021	B	0.000	D	1.000	D	0.085	N	0.45	T	-1.052	T	0.041	T	0.151	1.673	11.55	6.03	2.868	6.514	13.716	0.094	0.00665660799398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.538	0.06847	T	0.764	0.04571	T	0.091	0.25247	B	0.016	0.17743	B	0.000023	0.55875	D	0.000000	0.606987	0.32587	D	0.975	0.24501	L	0.33	0.58323	T	0.77	0.02558	N	0.142	0.18103	-1.0525	0.13709	T	0.041	0.17488	T	10	0.12635311	0.24020	T	0.006657	0.17585	T	0.094	0.27141	0.272	0.22210	0.520586239559	0.51704	0.08362847643912337	0.08296	0.0483182337376	0.05281	0.503688514233	0.39341	T	0.007706	0.07099	T	-0.128727	0.31703	T	-0.422684	0.30769	T	0.675288915634155	0.39574	D	0.80142	0.44736	T	0.070407756	0.15505	0.08730277	0.20284	0.070407756	0.15505	0.08730277	0.20284	-3.317	0.14523	T	0.06871425045942398	0.02517	0.166	0.36554	B	.;.	.;.	2.462804	0.31732	18.83	0.92583887767275952	0.22042	0.94464	0.61249	D	AEFBI	0.704557	0.66024	D	-0.142333935333806	0.35562	2.044219	0.133413881396926	0.46268	2.875634	0.998533369466999	0.37148	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	6.03	6.03	0.97798	6.641000	0.74179	8.621000	0.77811	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0699:0.0:0.9301:0.0	13.716	0.62178	725	0.54935	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2105	335.55	22	chr1	77935995	.	G	C,A	335.55	.	AC=4,4;AF=0.105,0.105;AN=38;BaseQRankSum=-2.969e+00;DP=769;ExcessHet=3.5521;FS=215.270;InbreedingCoeff=-0.2726;MLEAC=4,4;MLEAF=0.105,0.105;MQ=60.00;MQRankSum=0.00;QD=1.09;ReadPosRankSum=0.238;SOR=8.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,7,0:34:14:0|1:77935995_G_C:14,0,974,95,993,1088:77935995	11	0	4	2
chr1	85158755	85158755	A	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.T3580C:p.F1194L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.0	B	0.0	B	0.089	N	0.999	N	-0.345	N	3.28	T	-0.932	T	0.002	T	0.048	2.206	13.34	2.91	0.308	0.889	1.797	0.020	0.00654077122755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.59e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.23905	T	0.034	0.52727	D	0.0	0.02946	B	0.0	0.01387	B	0.089341	0.20432	N	0.527396	0.998858	0.21853	N	0	0.06538	N	3.28	0.06523	T	1.02	0.01369	N	0.042	0.01498	-0.9316	0.43903	T	0.002	0.00615	T	10	0.023369968	0.00610	T	0.006541	0.17243	T	0.020	0.03691	0.21	0.12781	0.0551355673512	0.04727	0.06610387111215123	0.06549	0.14237696093	0.16047	0.397826164961	0.24766	T	0.004802	0.04217	T	-0.355873	0.04369	T	-0.748963	0.03526	T	0.219421803951263	0.21435	T	0.513449	0.16474	T	0.053474132	0.10124	0.045122	0.05999	0.053474132	0.10124	0.045122	0.05999	-2.743	0.07671	T	.	.	0.392	0.59120	A	.	.	2.506013	0.32358	19.02	0.99124857947199441	0.53089	0.82995	0.42152	D	AEFGBI	0.191288	0.31849	N	-0.773932366158561	0.13992	0.6934386	-0.537640718649593	0.21134	1.141888	0.0731348463355377	0.15624	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	2.91	0.32903	2.498000	0.45023	3.315000	0.37496	-0.114000	0.14653	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.3343:0.3872:0.1116:0.1669	1.797	0.02879	676	0.60355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	606.1	33	chr1	85158755	.	A	G	606.1	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-2.537e+00;DP=1578;ExcessHet=3.5521;FS=65.892;InbreedingCoeff=-0.2459;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=0.89;ReadPosRankSum=-3.190e-01;SOR=9.887	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:65,13:78:21:.:.:21,0,1706	13	0	8	0
chr1	85158757	85158757	C	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.G3578C:p.S1193T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.132	B	0.031	B	0.000	D	0.857	N	0.695	N	3.03	T	-1.001	T	0.008	T	0.208	2.236	13.43	5.05	1.496	3.035	15.424	0.060	0.00707251258688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.064	0.44905	T	0.132	0.27209	B	0.031	0.21939	B	0.000003	0.62929	D	0.141141	0.856995	0.28413	N	2.89	0.83701	M	3.03	0.08898	T	-1.07	0.27876	N	0.197	0.21710	-1.0013	0.29545	T	0.008	0.02926	T	10	0.10845104	0.20189	T	0.007073	0.18731	T	0.060	0.17295	0.133	0.03747	0.115124310173	0.11017	0.1666088604543345	0.16580	0.261245587848	0.28675	0.516227483749	0.41095	T	0.015102	0.12732	T	-0.18471	0.23038	T	-0.503099	0.22027	T	0.930839061737061	0.59580	D	0.288071	0.05188	T	0.4173487	0.61915	0.2945027	0.55481	0.4173487	0.61916	0.2945027	0.55480	-4.469	0.30481	T	.	.	0.083	0.09094	B	.	.	1.981754	0.25175	16.67	0.98157459387076473	0.38747	0.94396	0.61032	D	AEFGBI	0.405519	0.47837	N	-0.0772867669948402	0.38391	2.247741	0.106188889006462	0.44865	2.760029	0.995644873868107	0.34242	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	5.05	0.67566	3.147000	0.50335	2.710000	0.34229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.7371:0.2629:0.0	15.424	0.74759	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4722	3593.29	88	chr1	85158757	.	C	G	3593.29	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-5.110e-01;DP=1833;ExcessHet=25.1139;FS=163.566;InbreedingCoeff=-0.7941;MLEAC=18;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.78;ReadPosRankSum=0.475;SOR=12.271	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:50,13:68:29:.:.:29,0,1657	1	0	17	3
chr1	86580219	86580225	ACCTACT	0	exonic	CLCA4	.	.	.	.	.	466	116	49	1	890	941	0.180212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	14600.39	280	chr1	86580219	.	ACCTACT	*,ACCTACTCCTACT,A	14600.39	.	AC=32,2,1;AF=0.762,0.048,0.024;AN=42;BaseQRankSum=-4.420e-01;DP=6355;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=32,2,1;MLEAF=0.762,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=-7.110e-01;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,303,0,0:303:99:.:.:12715,912,0,12715,912,12715,12715,912,12715,12715	0	12	6	0
chr1	86580225	86580225	-	CCTACT	exonic	CLCA4	.	nonframeshift insertion	CLCA4:NM_012128:exon14:c.2640_2641insCCTACT:p.P887_D888insTP,	.	.	466	116	49	1	890	941	0.180212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	14600.39	280	chr1	86580219	.	ACCTACT	*,ACCTACTCCTACT,A	14600.39	.	AC=32,2,1;AF=0.762,0.048,0.024;AN=42;BaseQRankSum=-4.420e-01;DP=6355;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=32,2,1;MLEAF=0.762,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=-7.110e-01;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,303,0,0:303:99:.:.:12715,912,0,12715,912,12715,12715,912,12715,12715	0	12	6	0
chr1	95072786	95072786	C	A	exonic	ALG14	.	nonsynonymous SNV	ALG14:NM_001305242:exon1:c.G113T:p.S38I	.	.	436	1084	2	0	0	2	0.000921659	.	.	271566	Congenital_myasthenic_syndrome_15|not_provided|not_specified|ALG14-related_disorder	MONDO:MONDO:0014542,MedGen:C4015596,OMIM:616227,Orphanet:353327,Orphanet:590|MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	0.573	P	0.19	B	0.067	N	0.946	D	0	N	0.86	T	-1.042	T	0.043	T	0.392	2.249	13.48	4.99	2.591	1.131	15.802	0.096	0.0105702927629	0.0033	0.000998403	0.0019	0.0008	0.0022	0	0.0002	0.0029	0	0	0.0020957	324	154602	rs139521179	0.0032	0.0032	0.0032	0.0031	0.0039	0.0031	0.0031	0.0038	0.0038	0.0004	0.0015	3.826e-05	0	0.0003	0.0007	0.0039	0.0026	2.319e-05	0.0022	0.0022	0.0027	0.0017	0.0042	0.0020	0.0020	0.0038	0.0036	0.0007	0	0.0010	0	0	0.0006	0	0.0042	0.0014	0	0.067	0.35918	T	0.147	0.32783	T	0.573	0.38659	P	0.19	0.36341	B	0.066526	0.21804	N	0.528179	0.946221	0.37519	D	1.795	0.47270	L	0.86	0.46777	T	-2.65	0.56787	D	0.433	0.47208	-1.0424	0.16592	T	0.043	0.18535	T	10	0.013941169	0.00294	T	0.01057	0.27259	T	0.096	0.27654	.	.	0.657190473102	0.65432	0.8047380235585493	0.80427	0.509770243166	0.49108	0.401813328266	0.25321	T	0.372007	0.73628	T	-0.427909	0.01526	T	-0.38441	0.35207	T	0.0527564928965084	0.05977	T	0.69743	0.30707	T	0.702524	0.78194	0.68173116	0.81295	0.8065867	0.84331	0.7541591	0.85471	-9.494	0.70821	D	0.5038724484707151	0.57866	0.440	0.61685	A	.	.	3.531439	0.49552	22.8	0.9769202859080538	0.35382	0.75500	0.36969	D	ALL	0.307074	0.41405	N	-0.105828151773638	0.37139	2.156419	0.00676967142221621	0.40028	2.382454	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.99	4.99	0.65942	1.159000	0.31360	2.002000	0.30126	0.529000	0.24592	0.866000	0.30720	0.938000	0.28711	0.935000	0.47363	0.0:1.0:0.0:0.0	15.802	0.78236	867	0.32089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2434.98	34	chr1	95072786	.	C	A	2434.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.459e+00;DP=913;ExcessHet=0.0000;FS=1.606;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.54;ReadPosRankSum=1.80;SOR=0.572	GT:AD:DP:GQ:PL	0/1:122,109:231:99:2449,0,3170	20	0	1	0
chr1	99884396	99884396	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2491C:p.Y831H	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	1488844	Glycogen_storage_disease_type_III	MONDO:MONDO:0009291,MedGen:C0017922,OMIM:232400,Orphanet:366	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.52	T	0.913	P	0.503	P	0.002	N	0.999	D	1.525	L	1.57	T	-1.113	T	0.049	T	0.261	3.205	16.73	5.8	2.216	7.642	16.134	0.081	0.00911862377621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.401e-06	7.43e-05	1.397e-06	1.405e-06	1.848e-06	2.3e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.848e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.473	0.12142	T	0.517	0.50474	P	0.109	0.47728	B	0.002293	0.36846	N	0.305907	0.99907	0.46009	D	2.045	0.56016	M	1.57	0.29342	T	-0.65	0.18877	N	0.272	0.33250	-1.1132	0.02809	T	0.049	0.20711	T	10	0.27782464	0.45351	T	0.009119	0.23988	T	0.081	0.23632	0.336	0.32491	0.479744053436	0.47606	0.606268470227836	0.60557	0.11555191635	0.13036	0.707347929478	0.68209	T	0.099441	0.40426	T	-0.125642	0.32204	T	-0.418252	0.31276	T	0.677078485488892	0.39656	D	0.937306	0.76420	D	0.20774648	0.42990	0.14135508	0.33665	0.20774648	0.42990	0.14135508	0.33664	-6.617	0.51183	T	0.20745740101029875	0.27728	0.195	0.49038	B	.;.;.;.;.	.;.;.;.;.	3.365396	0.46485	22.3	0.99621718597315734	0.75473	0.99680	0.98609	D	AEBI	0.860591	0.77848	D	0.379094507883598	0.60291	4.216405	0.481746564574198	0.66782	4.996979	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	7.619000	0.82253	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.4048	7236.94	34	chr1	99884396	.	T	C	7236.94	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-4.178e+00;DP=2325;ExcessHet=25.1139;FS=198.804;InbreedingCoeff=-0.6802;MLEAC=17;MLEAF=0.405;MQ=60.00;MQRankSum=0.00;QD=3.71;ReadPosRankSum=1.56;SOR=12.492	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,39:129:99:0|1:99884396_T_C:845,0,2078:99884396	4	0	17	0
chr1	99884400	99884400	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2495C:p.I832T	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.043	B	0.045	B	0.000	D	0.997	D	0	N	1.65	T	-1.054	T	0.016	T	0.371	2.784	15.27	5.8	2.216	5.903	16.134	0.153	0.0122640309764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.38e-06	6.716e-05	1.374e-06	1.386e-06	9.081e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.081e-07	1.668e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.026	0.56640	D	0.0	0.21573	B	0.001	0.24526	B	0.000055	0.53742	D	0.164392	0.996604	0.43303	D	0.75	0.19020	N	1.65	0.27650	T	-0.36	0.13035	N	0.436	0.50327	-1.0535	0.13440	T	0.016	0.06711	T	10	0.188252	0.34372	T	0.012264	0.30673	T	0.153	0.40148	0.481	0.56142	0.347438807231	0.34349	0.6957915828848406	0.69520	0.0479730424621	0.05229	0.57926928997	0.49983	T	0.024605	0.18561	T	-0.114689	0.33995	T	-0.402519	0.33091	T	0.689807772636414	0.40239	D	0.921208	0.71446	D	0.15030582	0.34224	0.15235546	0.35850	0.15030582	0.34224	0.15235546	0.35849	-7.468	0.57385	T	0.12742211284755814	0.13043	0.196	0.46493	B	.;.;.;.;.	.;.;.;.;.	3.585879	0.50577	23.0	0.98956683015017666	0.49246	0.98949	0.89045	D	AEFBI	0.617707	0.60379	D	-0.259290584713923	0.30734	1.716485	0.0117534508968653	0.40260	2.399848	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	5.882000	0.69458	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.3571	4473.53	34	chr1	99884400	.	T	C	4473.53	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-3.868e+00;DP=2293;ExcessHet=17.4423;FS=183.125;InbreedingCoeff=-0.5526;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=2.55;ReadPosRankSum=1.66;SOR=12.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,34:132:99:0|1:99884396_T_C:497,0,3728:99884396	6	0	15	0
chr1	109250116	109250116	-	CGC	exonic	CELSR2	.	nonframeshift insertion	CELSR2:NM_001408:exon1:c.37_38insCGC:p.P16_L17insP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7381	28794.1	33	chr1	109250113	.	ACGC	ACGCCGC,A	28794.1	.	AC=31,1;AF=0.738,0.024;AN=42;BaseQRankSum=0.990;DP=1066;ExcessHet=1.5138;FS=0.708;InbreedingCoeff=-0.0500;MLEAC=31,1;MLEAF=0.738,0.024;MQ=60.00;MQRankSum=0.00;QD=30.86;ReadPosRankSum=-5.290e-01;SOR=0.595	GT:AD:DP:GQ:PL	1/1:0,49,0:49:99:2188,147,0,2189,147,2189	1	11	8	0
chr1	109250114	109250116	CGC	-	exonic	CELSR2	.	nonframeshift deletion	CELSR2:NM_001408:exon1:c.35_37del:p.P16del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.599e-06	3.557e-05	7.286e-06	5.903e-06	3.316e-05	3.11e-06	2.25e-06	8.9e-07	6e-07	3.316e-05	0	0	2.792e-05	0	0	3.793e-06	3.555e-05	1.259e-05	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7381	28794.1	33	chr1	109250113	.	ACGC	ACGCCGC,A	28794.1	.	AC=31,1;AF=0.738,0.024;AN=42;BaseQRankSum=0.990;DP=1066;ExcessHet=1.5138;FS=0.708;InbreedingCoeff=-0.0500;MLEAC=31,1;MLEAF=0.738,0.024;MQ=60.00;MQRankSum=0.00;QD=30.86;ReadPosRankSum=-5.290e-01;SOR=0.595	GT:AD:DP:GQ:PL	1/1:0,49,0:49:99:2188,147,0,2189,147,2189	1	11	8	0
chr1	110222977	110222977	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C692G:p.A231G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.727	P	0.3	B	0.001	D	0.994	D	1.305	L	-4.19	D	0.589	D	0.723	D	0.404	2.090	12.95	4.88	2.425	3.659	11.857	0.456	0.0722916072849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0034	0.0008	0.0006	0.0008	0.0007	0.0006	0.0008	0.0008	0.0008	0	0.0003	0.0002	1.877e-05	0.0002	0.0008	0.0008	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.315	0.21144	T	0.051	0.42493	B	0.157	0.41053	B	0.000921	0.41028	D	0.275191	0.99437	0.42258	D	2.415	0.69758	M	-4.19	0.96908	D	-2.8	0.59226	D	0.438	0.47672	0.589	0.91750	D	0.723	0.90514	D	10	0.35339242	0.52146	T	0.072292	0.71493	D	0.456	0.75483	0.363	0.36874	0.993177892102	0.99310	0.7526387987383419	0.75210	1.08132311467	0.77145	0.672360956669	0.63174	T	0.667086	0.90076	D	0.175355	0.71615	D	0.0141088	0.71248	D	0.842766284942627	0.49555	D	0.923008	0.74652	D	0.2548791	0.48519	0.22605044	0.47570	0.2548791	0.48519	0.22605044	0.47569	-8.263	0.63102	D	.	.	0.237	0.47944	B	.;.;.	.;.;.	3.598856	0.50823	23.0	0.99047415397653182	0.51162	0.96210	0.68040	D	AEFDGBI	0.477094	0.52023	N	0.0886515093145786	0.45935	2.841749	0.218624017239798	0.50879	3.275622	0.993656479131254	0.33302	0.651	0.46895	0	0.588066	0.40923	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.88	4.88	0.63131	2.965000	0.48892	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.9187:0.0:0.0813	11.857	0.51719	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2812	1718.31	106	chr1	110222977	.	C	G	1718.31	.	AC=9;AF=0.281;AN=32;BaseQRankSum=-2.042e+00;DP=2418;ExcessHet=4.7172;FS=80.588;InbreedingCoeff=-0.3827;MLEAC=11;MLEAF=0.344;MQ=60.00;MQRankSum=0.00;QD=1.44;ReadPosRankSum=1.63;SOR=11.116	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,23:127:99:0|1:110222977_C_G:161,0,3540:110222977	7	0	9	5
chr1	110222980	110222980	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C695G:p.S232C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.981	D	0.000	D	1.000	D	2.695	M	-4.48	D	1.099	D	0.949	D	0.846	3.899	19.82	4.88	2.425	7.818	18.385	0.929	0.40933610176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.636e-05	0.0009	7.295e-05	5.971e-05	8.013e-05	5.553e-05	5.161e-05	6.603e-05	6.157e-05	3.015e-05	0	0	2.525e-05	0	0	8.013e-05	6.68e-05	2.327e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.992	0.90584	D	0.945	0.73362	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.905	0.96153	H	-4.48	0.97606	D	-4.53	0.78388	D	0.831	0.82660	1.099	0.99607	D	0.949	0.98331	D	10	0.8837731	0.87697	D	0.409336	0.93564	D	0.929	0.98304	0.653	0.79068	0.998239969463	0.99822	0.9428938060723817	0.94271	2.16590570783	0.95413	0.900061309338	0.96447	D	0.865354	0.97046	D	0.507574	0.94527	D	0.491319	0.94446	D	0.996615469455719	0.89714	D	0.968103	0.88413	D	0.81521255	0.84899	0.67973554	0.81184	0.81521255	0.84900	0.67973554	0.81185	-14.23	0.93792	D	.	.	0.990	0.93569	P	.;.;.	.;.;.	5.345809	0.89688	31	0.99023122748486747	0.50634	0.99055	0.90567	D	AEFDGBI	0.873031	0.79518	D	0.820546623686913	0.87372	9.195578	0.766985295263051	0.87421	9.215925	0.999999999988739	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.88	4.88	0.63131	7.905000	0.86479	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.385	0.90408	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2	1638.75	109	chr1	110222980	.	C	G	1638.75	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-3.817e+00;DP=2206;ExcessHet=3.5521;FS=69.990;InbreedingCoeff=-0.2544;MLEAC=8;MLEAF=0.200;MQ=60.00;MQRankSum=0.00;QD=1.50;ReadPosRankSum=1.87;SOR=10.509	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,23:128:99:0|1:110222977_C_G:158,0,3547:110222977	12	0	8	1
chr1	111188706	111188706	T	A	exonic	DENND2D	.	nonsynonymous SNV	DENND2D:NM_001271833:exon10:c.A1086T:p.L362F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.659	P	0.468	P	0.055	N	1.000	N	1.59	L	2.41	T	-1.039	T	0.019	T	0.071	2.323	13.73	-2.03	-0.177	-0.040	0.070	0.127	0.0104591924554	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	1.368e-06	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.40573	D	0.106	0.37872	T	0.528	0.40886	P	0.189	0.46719	B	0.054981	0.02067	N	2.093860	1	0.08975	N	2.075	0.57047	M	2.41	0.15492	T	-1.04	0.27259	N	0.105	0.09631	-1.0391	0.17587	T	0.019	0.07986	T	10	0.07910144	0.12685	T	0.010459	0.27023	T	0.127	0.34888	0.297	0.26202	0.228597637076	0.22478	0.19120019605546346	0.19038	0.333487075651	0.35387	0.289087474346	0.08790	T	0.033977	0.23137	T	-0.323894	0.06584	T	-0.703028	0.05662	T	0.334503680467606	0.26405	T	0.40256	0.10281	T	0.054931115	0.10608	0.06998724	0.14814	0.054931115	0.10608	0.06998724	0.14814	-5.484	0.41719	T	.	.	0.075	0.05360	B	.;.	.;.	0.948592	0.13246	9.747	0.98358830570599964	0.40618	0.14298	0.18329	N	AEBHCI	0.087421	0.17725	N	-0.637271308635559	0.17833	0.9209981	-0.791053005050623	0.14714	0.7702835	0.999738348810016	0.42341	0.722319	0.85440	0	0.698795	0.70079	0	0.696353	0.63694	0	0.567892	0.33627	0	.	.	5.44	-2.03	0.06959	-0.281000	0.08489	-0.073000	0.12273	-0.112000	0.15009	0.000000	0.06391	0.009000	0.19889	0.331000	0.25224	0.3165:0.2104:0.1629:0.3103	0.070	0.00019	735	0.53711	Tripartite DENN domain;Tripartite DENN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1118.98	36	chr1	111188706	.	T	A	1118.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.44;DP=828;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.36;ReadPosRankSum=0.355;SOR=0.740	GT:AD:DP:GQ:PL	0/1:59,49:108:99:1133,0,1313	20	0	1	0
chr1	111414627	111414627	C	A	exonic	OVGP1	.	nonsynonymous SNV	OVGP1:NM_002557:exon11:c.G1874T:p.S625I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.316	B	0.038	B	0.000	N	0.933	N	0.69	N	3.48	T	-0.980	T	0.005	T	0.227	3.168	16.60	2.72	0.602	0.013	5.956	0.059	0.00308262394767	7.7e-05	.	3.295e-05	0	0	0	0	1.498e-05	0	0.0002	2.59e-05	4	154602	rs146360764	9.577e-06	9.577e-06	6.806e-06	1.238e-05	0.0001	5.56e-06	4.35e-06	6.246e-05	4.757e-05	0	0	0	0	0	0	2.698e-06	1.656e-05	0.0001	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	0.007	0.59928	D	0.005	0.72224	D	0.316	0.32901	B	0.038	0.23361	B	0.000000	0.00162	N	37.704400	0.999999	0.08975	N	0.345	0.11182	N	3.48	0.05130	T	-0.52	0.16187	N	0.221	0.24758	-0.9799	0.35025	T	0.005	0.01761	T	10	0.053868234	0.05645	T	0.003083	0.06666	T	0.059	0.16972	.	.	0.444807159249	0.44105	0.24724863682595502	0.24638	0.253141147999	0.27883	0.270830512047	0.06250	T	0.006366	0.05804	T	-0.4423	0.01253	T	-0.613431	0.11708	T	0.150684952735901	0.17158	T	0.411059	0.10645	T	0.23692703	0.46549	0.12750532	0.30691	0.23692703	0.46549	0.12750532	0.30690	-4.715	0.33585	T	.	.	0.093	0.13830	B	.	.	1.726026	0.21973	15.43	0.99399262801408905	0.62702	0.06165	0.12148	N	AEFBI	0.039807	0.05833	N	-0.698223590728346	0.16072	0.8156513	-0.701218085338925	0.16931	0.8979277	0.00102212557221206	0.08137	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.586402	0.36253	0	.	.	4.67	2.72	0.31179	0.118000	0.15436	0.070000	0.14249	0.434000	0.20985	0.000000	0.06391	0.000000	0.08366	0.092000	0.17891	0.2067:0.6912:0.0:0.1022	5.956	0.18511	793	0.45818	.	.	.	.	.	.	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	0.02381	2206.98	61	chr1	111414627	.	C	A	2206.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.227e+00;DP=1527;ExcessHet=0.0000;FS=1.763;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.44;ReadPosRankSum=0.954;SOR=0.564	GT:AD:DP:GQ:PL	0/1:98,95:193:99:2221,0,2412	20	0	1	0
chr1	112913901	112913901	C	G	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1493C:p.S498T	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.019	B	0.006	B	0.000	N	1.000	D	0.55	N	1.89	T	-0.961	T	0.016	T	0.249	0.420	6.281	2.7	0.841	0.795	6.367	0.050	0.00694427549183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.514e-05	0.0014	1.781e-05	1.244e-05	1.721e-05	9.91e-06	8.47e-06	1.101e-05	8.87e-06	0	0	0	0	0	0	1.721e-05	3.328e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	0.10278	T	0.345	0.17750	T	0.019	0.17989	B	0.006	0.12133	B	0.000194	0.00507	N	3.613670	0.514651	0.31619	N	0.55	0.14455	N	1.89	0.23688	T	0.05	0.06369	N	0.31	0.34981	-0.9605	0.39087	T	0.016	0.06377	T	10	0.06500685	0.08706	T	0.006944	0.18374	T	0.050	0.13987	0.136	0.04008	0.206203607746	0.20212	0.25754088764728017	0.25668	0.358157990037	0.37530	0.395360171795	0.24422	T	0.083635	0.37098	T	-0.185342	0.22944	T	-0.504008	0.21933	T	0.148207157850266	0.16960	T	.	.	.	0.09177888	0.21514	0.055201277	0.09640	0.09177888	0.21514	0.055201277	0.09639	-2.577	0.06330	T	.	.	0.073	0.04558	B	.;.	.;.	1.617359	0.20662	14.85	0.80462772014093309	0.13214	0.95587	0.65318	D	AEFBI	0.400058	0.47510	N	-0.522399086346691	0.21356	1.132814	-0.357056128764837	0.26292	1.451256	0.85627841051563	0.25139	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.94	2.7	0.31007	1.588000	0.36242	0.013000	0.13471	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.972000	0.54974	0.1496:0.6559:0.0:0.1945	6.367	0.20666	822	0.40702	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	1360.52	107	chr1	112913901	.	C	G,T	1360.52	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-3.601e+00;DP=1739;ExcessHet=4.7172;FS=69.726;InbreedingCoeff=-0.2738;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=1.49;ReadPosRankSum=0.901;SOR=9.894	GT:AD:DP:GQ:PL	0/1:80,21,0:101:99:193,0,1841,425,1901,2325	12	0	8	0
chr1	112913901	112913901	C	T	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1493A:p.S498N	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.626	P	0.219	B	0.000	N	1.000	D	0.55	N	1.87	T	-1.064	T	0.021	T	0.104	1.964	12.53	2.7	0.841	0.795	6.367	0.041	0.0129096832338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.36912	T	0.114	0.36765	T	0.626	0.40074	P	0.219	0.37734	B	0.000194	0.00507	N	3.613670	0.542923	0.32069	D	0.55	0.14455	N	1.87	0.24085	T	-0.51	0.15986	N	0.234	0.26354	-1.0643	0.10713	T	0.021	0.08686	T	10	0.10610628	0.19646	T	0.01291	0.31889	T	0.041	0.10877	0.121	0.02793	0.200294437569	0.19612	0.24899618109934885	0.24813	0.315069041011	0.33789	0.411491125822	0.26663	T	0.106424	0.41776	T	-0.242444	0.15039	T	-0.58603	0.14011	T	0.547992467880249	0.34402	D	.	.	.	0.096315265	0.22684	0.08850896	0.20641	0.096315265	0.22683	0.08850896	0.20641	-4.187	0.26563	T	.	.	0.102	0.18206	B	.;.	.;.	1.870468	0.23763	16.14	0.98071642327873421	0.38030	0.50322	0.28636	D	AEFBI	0.126630	0.24365	N	-0.162150398385312	0.34719	1.985187	-0.0858474992985718	0.35975	2.087787	0.85627841051563	0.25139	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.94	2.7	0.31007	1.588000	0.36242	0.013000	0.13471	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.972000	0.54974	0.1496:0.6559:0.0:0.1945	6.367	0.20666	822	0.40702	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	1360.52	107	chr1	112913901	.	C	G,T	1360.52	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-3.601e+00;DP=1739;ExcessHet=4.7172;FS=69.726;InbreedingCoeff=-0.2738;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=1.49;ReadPosRankSum=0.901;SOR=9.894	GT:AD:DP:GQ:PL	0/1:80,21,0:101:99:193,0,1841,425,1901,2325	12	0	8	0
chr1	113590590	113590590	G	C	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon5:c.G870C:p.E290D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.63	P	0.217	B	0.000	D	0.643	D	0.49	N	2.69	T	-1.008	T	0.007	T	0.306	-1.899	0.008	-0.268	-0.075	-0.116	11.346	0.122	0.00487564636394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0045	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	2.242e-05	0	5.08e-05	0	0	0.0002	0.0002	7.081e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.03085	T	1.0	0.04079	T	0.069	0.23796	B	0.051	0.25434	B	0.000007	0.62929	D	0.142947	0.643051	0.32894	D	1.54	0.38927	L	2.69	0.14783	T	1.32	0.01107	N	0.162	0.19995	-1.0079	0.27572	T	0.007	0.02399	T	10	0.03753224	0.02113	T	0.004876	0.12224	T	0.122	0.33800	0.268	0.21576	0.143184338766	0.13958	0.2702843826030742	0.26941	0.165123761365	0.18624	0.563049614429	0.47698	T	0.039485	0.25206	T	-0.238336	0.15562	T	-0.580129	0.14534	T	0.164513646206508	0.18199	T	0.848015	0.52922	T	0.07584618	0.17116	0.059709318	0.11252	0.07584618	0.17115	0.059709318	0.11251	-8.114	0.61845	D	.	.	0.077	0.06205	B	.;.;.;.	.;.;.;.	2.279428	0.29141	18.03	0.061631012715648595	0.00020	0.49120	0.28361	N	AEFDI	0.108624	0.21602	N	-0.944723580309123	0.09811	0.4660299	-0.857016727595564	0.13119	0.6788146	4.96757964133831E-4	0.07150	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.9	-0.268	0.12295	-0.048000	0.11898	1.843000	0.29202	-0.796000	0.03208	0.834000	0.30193	1.000000	0.68203	0.976000	0.56436	0.5848:0.0:0.4152:0.0	11.346	0.48798	538	0.73119	.;Guanylate kinase/L-type calcium channel beta subunit;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.25	654.71	83	chr1	113590590	.	G	C	654.71	.	AC=3;AF=0.250;AN=12;BaseQRankSum=0.109;DP=1286;ExcessHet=0.3300;FS=262.934;InbreedingCoeff=-0.3263;MLEAC=5;MLEAF=0.417;MQ=60.00;MQRankSum=0.00;QD=2.09;ReadPosRankSum=1.54;SOR=9.558	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,35:115:99:0|1:113590590_G_C:372,0,2040:113590590	3	0	3	15
chr1	113653899	113653899	G	A	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon15:c.G2510A:p.R837Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	T	1.0	D	0.984	D	0.000	D	1.000	D	1.995	M	2.6	T	-1.100	T	0.062	T	0.468	1.777	11.90	5.41	2.687	3.755	19.561	0.165	0.0243017999456	0.0002	.	0.0002	0.0002	0	0	0.0003	0.0003	0	0	0.0001488	23	154602	rs143698690	0.0001	0.0001	9.938e-05	0.0001	0.0002	9.738e-05	9.216e-05	0.0001	0.0001	0.0002	2.237e-05	0	0	0.0002	0	0.0001	4.968e-05	0	0.0004	0.0004	0.0005	0.0003	0.0007	0.0003	0.0003	0.0005	0.0005	0.0002	0	0.0002	0	0	0.0003	0	0.0007	0.0005	0	0.787	0.14945	T	0.539	0.18018	T	0.916	0.77913	P	0.537	0.57669	P	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.43	0.70455	M	2.6	0.15261	T	-0.5	0.15782	N	0.133	0.14763	-1.0998	0.04116	T	0.062	0.25672	T	10	0.11761153	0.22215	T	0.024302	0.47287	T	0.165	0.42395	.	.	0.23798241625	0.23396	0.4849101411082097	0.48411	0.464471983716	0.45918	0.365942239761	0.20248	T	.	.	.	-0.441926	0.01260	T	-0.41312	0.31867	T	0.200685799121857	0.20453	T	0.944506	0.78979	D	0.10253564	0.24229	0.09597078	0.22783	0.10253564	0.24228	0.09597078	0.22782	-7.49	0.70348	T	.	.	0.075	0.06990	B	.;.;.;.	.;.;.;.	3.280834	0.44954	22.0	0.90680711381679968	0.19932	0.98204	0.80511	D	AEFBI	0.512423	0.54064	D	0.338118207209366	0.58117	3.982016	0.326887563779288	0.57124	3.877253	0.999999998993547	0.74766	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.41	5.41	0.78313	3.263000	0.51248	3.926000	0.40503	0.676000	0.76740	1.000000	0.71638	0.824000	0.27153	0.083000	0.17415	0.0:0.0:1.0:0.0	19.561	0.95366	460	0.78750	.;.;.;.	.	.	.	.	.	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	0.02381	2448.98	34	chr1	113653899	.	G	A	2448.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.405e+00;DP=944;ExcessHet=0.0000;FS=0.548;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.53;ReadPosRankSum=-1.200e-02;SOR=0.648	GT:AD:DP:GQ:PL	0/1:76,105:181:99:2463,0,1749	20	0	1	0
chr1	114732648	114732648	C	G	exonic	CSDE1	.	nonsynonymous SNV	CSDE1:NM_001242893:exon8:c.G913C:p.V305L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.033	B	0.015	B	0.000	D	0.999	D	-1.545	N	.	.	-0.951	T	0.015	T	0.585	0.535	6.895	5.89	2.787	4.426	15.011	0.141	0.00302580783907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.572e-05	0.0005	3.966e-05	3.175e-05	4.338e-05	2.774e-05	2.512e-05	3.36e-05	2.971e-05	0	0	3.834e-05	0	0	0	4.338e-05	3.322e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.019	0.17989	B	0.007	0.12992	B	0.000054	0.53742	D	0.166893	0.995854	0.46032	D	-1.005	0.01165	N	.	.	.	1.46	0.00775	N	0.49	0.52651	-0.9514	0.40730	T	0.015	0.06186	T	9	0.1688331	0.31457	T	0.003026	0.06487	T	0.141	0.37795	0.283	0.23961	0.438345833192	0.43453	0.47999988597583465	0.47919	0.664778676347	0.59103	0.696112155914	0.66584	T	0.116941	0.43665	T	-0.00863497	0.50457	T	-0.25018	0.49799	T	0.698000967502594	0.40624	D	0.917108	0.76468	D	0.059146494	0.11985	0.09358893	0.22112	0.059146494	0.11985	0.09358893	0.22111	-6.727	0.59015	T	.	.	0.240	0.47513	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.228914	0.64023	24.7	0.79526294004721843	0.12782	0.91046	0.52754	D	AEFBCI	0.679294	0.64337	D	-0.4128236221243	0.25018	1.355104	-0.0758002100467609	0.36392	2.117378	0.809094888011598	0.24323	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.89	5.89	0.94758	4.456000	0.59820	7.732000	0.67763	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.1424:0.8576:0.0:0.0	15.011	0.71206	854	0.34840	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	6766.73	121	chr1	114732648	.	C	G	6766.73	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.661e+00;DP=3409;ExcessHet=54.0936;FS=245.736;InbreedingCoeff=-0.9995;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.26;ReadPosRankSum=1.31;SOR=12.755	GT:AD:DP:GQ:PL	0/1:96,65:171:99:480,0,1224	0	0	21	0
chr1	116387322	116387322	C	T	exonic	ATP1A1	.	nonsynonymous SNV	ATP1A1:NM_000701:exon4:c.C218T:p.A73V	.	.	.	.	.	.	.	.	.	.	.	3046362	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.003	B	0.001	B	0.000	D	1.000	D	2.27	M	-1.32	T	-0.467	T	0.381	T	0.639	3.953	20.2	5.34	2.773	4.800	19.206	0.336	0.0227616793453	.	.	1.648e-05	0	0	0	0	1.499e-05	0	6.056e-05	1.29e-05	2	154602	rs751968061	1.163e-05	1.163e-05	9.529e-06	1.375e-05	1.439e-05	7.08e-06	5.79e-06	8.52e-06	6.89e-06	0	0	0	0	0	0	1.439e-05	0	1.159e-05	2.629e-05	2.627e-05	3.853e-05	1.345e-05	7.241e-05	8.14e-06	5.14e-06	1.92e-05	1.032e-05	7.241e-05	0	0	0	0	0	0	1.47e-05	0	0	0.076	0.34269	T	0.265	0.23365	T	0.003	0.11197	B	0.001	0.04355	B	0.000000	0.84330	D	0.000000	1	0.81001	D	3.18	0.88827	M	-1.32	0.79761	T	-1.54	0.37375	N	0.484	0.51940	-0.4665	0.69848	T	0.381	0.73766	T	10	0.36594254	0.53101	T	0.022762	0.45677	T	0.336	0.65816	0.377	0.39156	0.753886192774	0.75166	0.5721245122953718	0.57140	1.34515436598	0.83964	0.730997204781	0.71652	T	0.313719	0.68545	T	0.0510604	0.58479	T	-0.0567747	0.66557	D	0.664666652679443	0.39101	D	0.879112	0.59504	D	0.19288906	0.40976	0.19217631	0.42717	0.19288906	0.40976	0.19217631	0.42716	-8.61	0.65438	D	.	.	0.094	0.24967	B	.;.;.;.;.	.;.;.;.;.	4.968168	0.82200	27.7	0.99848506136690618	0.92838	0.98649	0.85128	D	AEFDBI	0.830362	0.74909	D	0.165646515050584	0.49554	3.154587	0.314374371282521	0.56382	3.801624	0.999999999969549	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.34	5.34	0.75982	5.024000	0.63865	7.691000	0.65788	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:1.0:0.0:0.0	19.206	0.93714	680	0.59965	Cation-transporting P-type ATPase, N-terminal|Cation-transporting P-type ATPase, N-terminal;Cation-transporting P-type ATPase, N-terminal|Cation-transporting P-type ATPase, N-terminal;.;Cation-transporting P-type ATPase, N-terminal|Cation-transporting P-type ATPase, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3098.98	34	chr1	116387322	.	C	T	3098.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.960;DP=972;ExcessHet=0.0000;FS=4.021;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.27;ReadPosRankSum=-2.285e+00;SOR=0.503	GT:AD:DP:GQ:PL	0/1:151,124:275:99:3113,0,3764	20	0	1	0
chr1	117075111	117075111	-	GG	exonic	TTF2	.	frameshift insertion	TTF2:NM_003594:exon5:c.527_528insGG:p.D177Efs*15,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	49.94	72	chr1	117075111	.	A	AGG	49.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.777e+00;DP=1284;ExcessHet=0.0000;FS=33.194;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.57;ReadPosRankSum=0.419;SOR=4.974	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,11:87:64:0|1:117075111_A_AGG:64,0,3016:117075111	20	0	1	0
chr1	117075114	117075114	A	G	exonic	TTF2	.	nonsynonymous SNV	TTF2:NM_003594:exon5:c.A530G:p.D177G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.004	B	0.006	B	0.457	N	1.000	N	1.59	L	-2.26	D	-0.762	T	0.291	T	0.032	2.133	13.09	-4.06	-0.643	-0.172	6.280	0.154	0.0132360835549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.28646	T	0.09	0.40267	T	0.001	0.07471	B	0.002	0.06944	B	0.457106	0.04848	N	1.398010	1	0.08975	N	1.14	0.29013	L	-2.26	0.87352	D	-0.75	0.21003	N	0.083	0.05929	-0.7620	0.57296	T	0.291	0.66259	T	10	0.058485538	0.06882	T	0.013236	0.32488	T	0.154	0.40340	0.183	0.09131	0.643941902393	0.64099	0.08108825765098707	0.08043	0.241580751267	0.26684	0.243414014578	0.03106	T	0.021237	0.16575	T	-0.176365	0.24280	T	-0.491113	0.23275	T	0.054866618141063	0.06334	T	0.59544	0.22079	T	0.049401704	0.08766	0.062875554	0.12368	0.049401704	0.08766	0.062875554	0.12368	-3.245	0.13038	T	.	.	0.073	0.04723	B	.	.	0.063571	0.04739	1.366	0.94533126519332245	0.25034	0.11347	0.16573	N	AEFBI	0.048164	0.08190	N	-1.03133576847904	0.07959	0.3715235	-1.124398888183	0.07236	0.3512182	0.435799075252417	0.20411	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	-4.06	0.03718	0.032000	0.13620	0.077000	0.14340	0.756000	0.94297	0.000000	0.06391	0.001000	0.17328	0.008000	0.08271	0.3761:0.3505:0.2734:0.0	6.280	0.20207	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	116.39	72	chr1	117075114	.	ACC	GCC,A	116.39	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-3.677e+00;DP=1342;ExcessHet=0.3300;FS=114.546;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=0.47;ReadPosRankSum=2.15;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:78,0,11:89:58:0|1:117075111_A_AGG:58,292,3393,0,3100,3068:117075111	18	0	2	0
chr1	117075115	117075116	CC	-	exonic	TTF2	.	frameshift deletion	TTF2:NM_003594:exon5:c.531_532del:p.S179Ifs*26,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	116.39	72	chr1	117075114	.	ACC	GCC,A	116.39	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-3.677e+00;DP=1342;ExcessHet=0.3300;FS=114.546;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=0.47;ReadPosRankSum=2.15;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:78,0,11:89:58:0|1:117075111_A_AGG:58,292,3393,0,3100,3068:117075111	18	0	2	0
chr1	117075115	117075115	C	G	exonic	TTF2	.	nonsynonymous SNV	TTF2:NM_003594:exon5:c.C531G:p.D177E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92	T	0.004	B	0.006	B	0.457	N	1.000	N	0.895	L	-2.09	D	-0.949	T	0.152	T	0.024	1.069	9.364	-11.7	-1.989	-2.698	7.671	0.294	0.0133099251909	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.19500	T	0.565	0.08961	T	0.003	0.11197	B	0.002	0.06944	B	0.457106	0.04848	N	1.398010	1	0.08975	N	0.795	0.19620	N	-2.09	0.86077	D	-0.44	0.14588	N	0.025	0.00485	-0.9489	0.41160	T	0.152	0.48049	T	10	0.036800593	0.01997	T	0.01331	0.32613	T	0.294	0.61388	0.15	0.05339	0.419713421852	0.41588	0.01867910000120359	0.01821	0.170441058877	0.19214	0.245176702738	0.03277	T	0.007389	0.06799	T	-0.230908	0.16530	T	-0.56946	0.15500	T	0.0853659222227376	0.10658	T	0.475952	0.14261	T	0.027897246	0.02046	0.030979753	0.01624	0.027897246	0.02046	0.030979753	0.01624	-2.944	0.09590	T	.	.	0.087	0.11366	B	.	.	-2.604579	0.00025	0.001	0.68458849430015456	0.08665	0.01377	0.04694	N	AEFBI	0.025145	0.01673	N	-2.17914600982642	0.00085	0.003650813	-2.26845868672044	0.00078	0.003437762	0.999999941412917	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	-11.7	0.00035	-1.899000	0.01691	-5.877000	0.01566	-1.734000	0.00710	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0817:0.3909:0.4201:0.1073	7.671	0.27624	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	75.57	72	chr1	117075115	.	C	G,*	75.57	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-3.836e+00;DP=1311;ExcessHet=0.3300;FS=113.927;InbreedingCoeff=-0.0852;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=0.30;ReadPosRankSum=3.35;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:78,0,11:89:58:0|1:117075111_A_AGG:58,292,3393,0,3100,3068:117075111	18	0	2	0
chr1	117075115	117075115	C	0	exonic	TTF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	75.57	72	chr1	117075115	.	C	G,*	75.57	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-3.836e+00;DP=1311;ExcessHet=0.3300;FS=113.927;InbreedingCoeff=-0.0852;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=0.30;ReadPosRankSum=3.35;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:78,0,11:89:58:0|1:117075111_A_AGG:58,292,3393,0,3100,3068:117075111	18	0	2	0
chr1	117075116	117075116	C	G	exonic	TTF2	.	nonsynonymous SNV	TTF2:NM_003594:exon5:c.C532G:p.L178V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.952	P	0.652	P	0.218	N	1.000	N	1.87	L	-2.25	D	-0.572	T	0.361	T	0.093	1.266	10.13	2.83	0.941	0.585	7.325	0.284	0.0213300752184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.841e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.19023	T	0.291	0.20944	T	0.799	0.44910	P	0.214	0.37471	B	0.218384	0.16197	N	0.458835	1	0.08975	N	2.125	0.59049	M	-2.25	0.87272	D	0.07	0.06138	N	0.069	0.04188	-0.5724	0.65919	T	0.361	0.72292	T	10	0.09302208	0.16428	T	0.02133	0.44082	T	0.284	0.60219	0.102	0.01589	0.727519437982	0.72510	0.0620487696778787	0.06144	0.196730262232	0.22047	0.224589943886	0.01592	T	0.095091	0.39551	T	-0.107936	0.35110	T	-0.392819	0.34220	T	0.144249540598991	0.16636	T	0.655434	0.26547	T	0.03494017	0.04019	0.042891104	0.05214	0.03494017	0.04019	0.042891104	0.05213	-3.482	0.16181	T	.	.	0.062	0.01309	B	.	.	0.157752	0.05486	1.954	0.85876684211171095	0.16168	0.21968	0.21586	N	AEFBI	0.053474	0.09639	N	-0.484094750617409	0.22602	1.207987	-0.596142495220181	0.19592	1.051903	0.324646790490361	0.19420	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	2.83	0.32150	0.347000	0.19760	-0.033000	0.12769	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.7033:0.1406:0.1561	7.325	0.25724	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	34.06	72	chr1	117075116	.	C	G,*	34.06	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-4.531e+00;DP=1272;ExcessHet=0.1072;FS=66.244;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=0.20;ReadPosRankSum=3.34;SOR=6.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:78,0,11:89:58:0|1:117075111_A_AGG:58,292,3393,0,3100,3068:117075111	19	0	1	0
chr1	117075116	117075116	C	0	exonic	TTF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	34.06	72	chr1	117075116	.	C	G,*	34.06	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-4.531e+00;DP=1272;ExcessHet=0.1072;FS=66.244;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=0.20;ReadPosRankSum=3.34;SOR=6.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:78,0,11:89:58:0|1:117075111_A_AGG:58,292,3393,0,3100,3068:117075111	19	0	1	0
chr1	144429712	144429712	C	A	exonic	NBPF15	.	nonsynonymous SNV	NBPF15:NM_001385417:exon9:c.G976T:p.V326F	.	.	684	837	1	0	0	1	0.000597015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1413195173	6.769e-05	5.072e-05	5.406e-05	7.977e-05	0.0005	4.895e-05	4.288e-05	5.811e-05	4.897e-05	0	4.543e-05	0	0	0	0.0005	8.452e-05	0.0002	0	3.769e-05	3.306e-05	2.886e-05	4.734e-05	7.8e-05	1.402e-05	9e-06	2.082e-05	1.299e-05	0	0	7.8e-05	0	0	0	0	6.354e-05	0	0	.	.	.	0.446	0.13103	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.18	0.07478	T	.	.	.	0.18	0.19459	.	.	.	.	.	.	.	0.08597696	0.14570	T	.	.	.	.	.	.	.	.	.	0.0031092792452635837	0.00289	.	.	.	.	.	0.015399	0.12927	T	.	.	.	.	.	.	.	.	.	0.744526	0.36463	T	.	.	.	.	.	.	.	.	-3.197	0.12444	T	.	.	0.197	0.42621	B	.;.;.	.;.;.	1.030016	0.14100	10.67	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.896000	0.04222	-20.000000	0.00162	-2.146000	0.00375	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	.	.	.	.	.	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	187.34	27	chr1	144429712	.	C	A	187.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-3.027e+00;DP=368;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0257;MLEAC=1;MLEAF=0.025;MQ=28.89;MQRankSum=-9.300e-02;QD=10.41;ReadPosRankSum=0.667;SOR=1.445	GT:AD:DP:GQ:PL	0/1:10,8:18:99:201,0,271	19	0	1	1
chr1	144435839	144435839	C	G	exonic	NBPF15	.	nonsynonymous SNV	NBPF15:NM_001385417:exon6:c.G508C:p.D170H	.	.	465	910	147	0	0	147	0.0747331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.331e-05	8.551e-05	0	2.723e-05	4.948e-05	2.21e-06	8.3e-07	8.2e-06	3.07e-06	4.948e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.027	0.55341	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.14	0.02839	T	.	.	.	0.126	0.11912	.	.	.	.	.	.	.	0.072508216	0.10832	T	.	.	.	.	.	.	.	.	.	0.02086796461604304	0.02039	.	.	.	.	.	0.035888	0.23893	T	.	.	.	.	.	.	.	.	.	0.874313	0.58483	D	.	.	.	.	.	.	.	.	-7.302	0.56210	T	.	.	0.149	0.32945	B	.;.;.	.;.;.	0.829778	0.12010	8.569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.760000	0.01905	-4.297000	0.02231	-3.345000	0.00094	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	.	.	.	.	.	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) 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	0.1	404.84	72	chr1	144435839	.	C	G	404.84	.	AC=4;AF=0.100;AN=40;BaseQRankSum=-4.463e+00;DP=1565;ExcessHet=0.7148;FS=12.124;InbreedingCoeff=-0.1183;MLEAC=4;MLEAF=0.100;MQ=31.23;MQRankSum=-1.852e+00;QD=1.07;ReadPosRankSum=2.75;SOR=2.975	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,9:114:62:0|1:144435839_C_G:62,0,4337:144435839	16	0	4	1
chr1	144892167	144892167	C	G	exonic	SRGAP2B	.	nonsynonymous SNV	SRGAP2B:NM_001385227:exon9:c.G1310C:p.G437A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1268454149	0.0065	0.0065	0.0072	0.0059	0.1022	0.0063	0.0063	0.0995	0.0983	0.0003	0.0002	0	0.1022	3.766e-05	0	0.0003	0.0062	0.0012	0.0045	0.0044	0.0040	0.0050	0.1133	0.0042	0.0041	0.1057	0.1027	0.0003	0	0.0017	0	0.1133	0	0	0.0002	0.0053	0.0048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.13484	.	.	.	.	.	.	.	0.003936857	0.00075	T	.	.	.	.	.	.	.	.	.	0.5501542314546787	0.54941	.	.	.	.	.	0.006554	0.05980	T	.	.	.	.	.	.	.	.	.	0.373463	0.08871	T	.	.	.	.	.	.	.	.	-3.74	0.19910	T	.	.	0.114	0.28920	B	.;.;.	.;.;.	0.541041	0.09098	5.879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.474000	0.21858	0.170000	0.15507	0.284000	0.18682	0.004000	0.16614	0.005000	0.19230	0.320000	0.24970	.	.	.	645	0.63593	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	874.98	34	chr1	144892167	.	C	G	874.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.566;DP=851;ExcessHet=0.0000;FS=0.684;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=36.87;MQRankSum=-2.209e+00;QD=5.83;ReadPosRankSum=0.621;SOR=0.595	GT:AD:DP:GQ:PL	0/1:102,48:150:99:889,0,2481	20	0	1	0
chr1	145103029	145103029	G	A	exonic	FAM72C;FAM72D	.	nonsynonymous SNV	FAM72D:NM_001345942:exon3:c.G253A:p.V85M	.	.	578	941	3	0	0	3	0.00159151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs28685127	0.0029	0.0029	0.0030	0.0028	0.0946	0.0028	0.0028	0.0920	0.0910	0.0001	0.0002	3.831e-05	0.0946	0	0	2.25e-05	0.0061	0.0011	0.0034	0.0035	0.0030	0.0038	0.0889	0.0031	0.0031	0.0820	0.0793	0.0004	0	0.0014	0	0.0889	0	0	2.978e-05	0.0064	0.0030	0.001	0.78490	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.84	0.47477	T	-2.47	0.53898	N	0.82	0.81559	.	.	.	.	.	.	.	0.040254056	0.02578	T	.	.	.	.	.	.	.	.	.	0.544895775715899	0.54415	.	.	.	.	.	0.122198	0.44569	T	.	.	.	.	.	.	.	.	.	0.968103	0.88413	D	.	.	.	.	.	.	.	.	-9.328	0.69782	D	.	.	0.244	0.47827	B	.	.	4.925605	0.81165	27.5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.350000	0.96469	11.864000	0.98398	0.318000	0.19305	1.000000	0.71638	1.000000	0.68203	0.801000	0.37776	.	.	.	793	0.45818	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1058.98	34	chr1	145103029	.	G	A	1058.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.447e+00;DP=832;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=34.32;MQRankSum=-3.830e-01;QD=7.46;ReadPosRankSum=-6.330e-01;SOR=0.650	GT:AD:DP:GQ:PL	0/1:85,57:142:99:1073,0,1811	20	0	1	0
chr1	145872713	145872713	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1786C:p.A596P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.635e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.39575	D	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.59037	T	-1.95	0.45222	N	0.526	0.55540	.	.	.	.	.	.	.	0.42498738	0.57114	T	.	.	.	.	.	.	.	.	.	0.8187195895967326	0.81828	.	.	.	.	.	0.082225	0.36779	T	.	.	.	.	.	.	.	.	.	0.812719	0.46458	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.743	0.77826	P	.;.	.;.	3.961182	0.58095	23.9	.	.	.	.	.	.	0.492730	0.52925	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.132000	0.41706	4.040000	0.41416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	2354.68	101	chr1	145872713	.	C	G	2354.68	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-3.628e+00;DP=2761;ExcessHet=20.9642;FS=143.279;InbreedingCoeff=-0.5874;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=1.11;ReadPosRankSum=0.894;SOR=12.457	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,24:139:99:0|1:145872713_C_G:102,0,3840:145872713	5	0	16	0
chr1	145872714	145872714	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1785C:p.E595D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.069	0.43913	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	0.57419	T	-1.48	0.36189	N	0.138	0.13626	.	.	.	.	.	.	.	0.13870499	0.26377	T	.	.	.	.	.	.	.	.	.	0.4799690801717402	0.47916	.	.	.	.	.	0.054385	0.29709	T	.	.	.	.	.	.	.	.	.	0.768923	0.39853	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.42763	B	.;.	.;.	3.406129	0.47225	22.4	.	.	.	.	.	.	0.196541	0.32351	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344000	0.19703	1.359000	0.25866	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.977000	0.56843	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.35	2100.21	101	chr1	145872714	.	C	G	2100.21	.	AC=14;AF=0.350;AN=40;BaseQRankSum=-4.135e+00;DP=2664;ExcessHet=14.4320;FS=138.726;InbreedingCoeff=-0.4963;MLEAC=14;MLEAF=0.350;MQ=60.00;MQRankSum=0.00;QD=1.14;ReadPosRankSum=0.919;SOR=11.988	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,24:139:99:0|1:145872713_C_G:102,0,3840:145872713	6	0	14	1
chr1	145874987	145874987	A	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon6:c.T310C:p.C104R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	1.0	D	0.999	D	0.000	D	1.000	D	2.63	M	-0.15	T	-0.332	T	0.363	T	0.928	4.082	21.0	5.55	2.234	3.419	12.377	0.567	0.00138499718359	.	.	.	.	.	.	.	.	.	.	.	.	.	rs146839643	0.0004	0.0004	0.0004	0.0004	0.0129	0.0004	0.0004	0.0120	0.0116	0	0	0	0.0129	1.875e-05	0	3.606e-06	0.0005	0.0004	0.0004	0.0004	0.0004	0.0005	0.0112	0.0003	0.0003	0.0089	0.0081	0	0	0	0	0.0112	0	0	0	0.0005	0.0010	0.0	0.91255	D	0.059	0.56640	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.14	0.65006	T	-10.51	0.99062	D	0.904	0.92550	.	.	.	.	.	.	.	0.7153874	0.73312	D	.	.	.	.	.	.	.	.	.	0.9953492462410516	0.99531	.	.	.	.	.	0.090629	0.38625	T	.	.	.	.	.	.	.	.	.	0.718628	0.33152	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.983	0.91837	P	.;.	.;.	5.205884	0.87343	29.2	.	.	.	.	.	.	0.561719	0.56960	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.556000	0.67011	11.144000	0.87156	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	.	.	.	.	.	.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1290.98	33	chr1	145874987	.	A	G	1290.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.559e+00;DP=792;ExcessHet=0.0000;FS=0.753;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.53;ReadPosRankSum=-1.550e-01;SOR=0.787	GT:AD:DP:GQ:PL	0/1:50,53:103:99:1305,0,1346	20	0	1	0
chr1	146972783	146972783	A	G	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon17:c.A1624G:p.S542G,	.	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	.	.	.	.	.	.	1.000	N	.	.	4.03	T	-0.914	T	0.004	T	0.169	1.384	10.56	-0.463	-0.114	0.705	2.804	0.064	0.000733484572203	.	.	0.0003	0	0	0	0	0.0005	0	0	.	.	.	rs782437365	0.0001	0.0001	0.0001	0.0001	0.0006	9.888e-05	9.29e-05	0.0001	0.0001	3.801e-05	0	0.0007	0	0	0.0006	0.0001	0.0001	0	0.0001	0.0001	0.0001	0.0001	0.0003	8.22e-05	6.767e-05	0.0002	0.0001	0	0	0	0.0003	0	0	0	0.0003	0	0	.	.	.	0.112	0.37037	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.109	0.09490	-0.9138	0.46377	T	0.004	0.01330	T	6	0.059548438	0.07175	T	7.33E-4	0.00491	T	.	.	.	.	0.0551355673512	0.04727	0.007986773086650406	0.00763	.	.	.	.	.	.	.	.	-0.163286	0.26257	T	-0.472325	0.25267	T	0.0863245129585266	0.10775	T	0.558744	0.25103	T	0.053535566	0.10144	0.07831623	0.17529	0.053535566	0.10144	0.07831623	0.17528	-10.008	0.73960	D	.	.	0.225	0.52524	B	.;.;.;.;.	.;.;.;.;.	1.666070	0.21242	15.11	0.95049673264718626	0.26065	0.00310	0.01640	N	AEFI	0.037694	0.05221	N	-0.736930986744413	0.14990	0.7515638	-0.982190714914029	0.10186	0.5113941	1.13445642388804E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	0.827	-0.463	0.11557	0.698000	0.25249	0.809000	0.21733	0.319000	0.19345	0.039000	0.20931	0.000000	0.08366	0.004000	0.06068	0.6542:0.0:0.3458:0.0	2.804	0.05092	742	0.52873	.;.;.;.;.	.	.	.	.	.	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	0.02381	2396.98	61	chr1	146972783	.	A	G	2396.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.588e+00;DP=1144;ExcessHet=0.0000;FS=7.849;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=48.52;MQRankSum=3.92;QD=14.10;ReadPosRankSum=-7.930e-01;SOR=0.948	GT:AD:DP:GQ:PL	0/1:71,99:170:99:2411,0,1746	20	0	1	0
chr1	149075685	149075685	C	A	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon7:c.G958T:p.G320C	.	.	409	361	749	3	0	755	0.511171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	.	.	.	.	.	.	1.000	N	.	.	4.24	T	-0.912	T	0.002	T	0.328	-0.960	0.324	0.43	-1.589	-0.069	.	0.049	.	.	.	5.909e-05	0	0	0	0	0	0	0.0004	3.84e-05	1	26028	rs1385733241	9.61e-06	5.749e-05	1.23e-05	6.897e-06	2.519e-05	5.58e-06	4.36e-06	4.56e-06	3.33e-06	0	0	3.836e-05	2.519e-05	0	0	9.021e-06	3.323e-05	0	1.317e-05	3.942e-05	2.575e-05	0	2.946e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.946e-05	0	0	.	.	.	0.365	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.21580	.	.	.	.	.	.	.	0.12383446	0.23512	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.811819	0.46320	T	.	.	.	.	.	.	.	.	-4.7	0.44930	T	.	.	0.071	0.39220	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.560151	0.09286	6.069	.	.	.	.	.	.	0.017031	0.00420	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.056000	0.11744	0.032000	0.13746	-1.437000	0.01108	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	889	0.27310	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4762	30341.43	581	chr1	149075685	.	C	A	30341.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=1.56;DP=9689;ExcessHet=43.6797;FS=6.799;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=47.24;MQRankSum=-6.707e+00;QD=3.24;ReadPosRankSum=-1.735e+00;SOR=1.328	GT:AD:DP:GQ:PL	0/1:459,110:569:99:1803,0,12272	1	0	20	0
chr1	151776184	151776184	C	T	exonic	TDRKH	.	nonsynonymous SNV	TDRKH:NM_001083963:exon8:c.G1129A:p.G377S	.	.	.	.	.	.	.	.	.	.	.	3486066	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.39	T	0.996	D	0.699	P	0.000	D	1.000	D	0.72	N	2.88	T	-0.948	T	0.020	T	0.271	3.149	16.53	5.38	2.806	5.281	17.858	0.097	0.00990881546819	0.0002	.	0.0001	0.0008	0	0	0	6.001e-05	0.0011	0	9.06e-05	14	154602	rs201135766	3.899e-05	3.899e-05	4.356e-05	3.438e-05	0.0005	3.047e-05	2.783e-05	0.0003	0.0003	0.0005	2.236e-05	0	0	0	0.0002	2.428e-05	0.0001	2.319e-05	0.0001	0.0001	0.0002	5.373e-05	0.0004	7.576e-05	6.281e-05	0.0002	0.0002	0.0004	0	0	0	0	0	0.0034	2.941e-05	0	0	0.234	0.27544	T	0.343	0.20877	T	0.469	0.68779	P	0.06	0.54128	B	0.000002	0.62929	D	0.100133	0.999998	0.58761	D	1.33	0.33268	L	2.88	0.10291	T	-1.78	0.45769	N	0.293	0.37197	-0.9476	0.41380	T	0.020	0.08266	T	10	0.123211235	0.23386	T	0.009909	0.25811	T	0.097	0.27909	.	.	0.658336924587	0.65547	0.3622269283049374	0.36136	0.691143918717	0.60573	0.643649458885	0.59083	T	0.00593	0.05373	T	-0.441438	0.01268	T	-0.499608	0.22387	T	0.071703519141677	0.08888	T	0.909609	0.68343	D	0.37095296	0.58656	0.28440416	0.54439	0.37095296	0.58656	0.28440416	0.54438	-9.641	0.71734	D	0.4780901771444297	0.55726	0.357	0.57720	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.285195	0.65313	24.8	0.995778193393559	0.72802	0.87749	0.47394	D	AEFBHCI	0.597412	0.59120	D	0.31103530381575	0.56714	3.836635	0.404768836178062	0.61861	4.392307	0.999999942774517	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.38	5.38	0.77279	5.465000	0.66456	7.738000	0.67953	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.759000	0.36109	0.0:1.0:0.0:0.0	17.858	0.88686	286	0.88678	Tudor domain|Tudor domain|Tudor domain;Tudor domain|Tudor domain|Tudor domain;.;Tudor domain|Tudor domain|Tudor domain;Tudor domain|Tudor domain|Tudor domain;Tudor domain|Tudor domain|Tudor domain;Tudor domain|Tudor domain|Tudor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1308.98	37	chr1	151776184	.	C	T	1308.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.404e+00;DP=813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.22;ReadPosRankSum=0.703;SOR=0.651	GT:AD:DP:GQ:PL	0/1:45,54:99:99:1323,0,1177	20	0	1	0
chr1	152214827	152214827	A	0	exonic	HRNR	.	.	.	.	.	441	898	8	0	175	183	0.00443459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	1186.66	278	chr1	152214827	.	A	C,*	1186.66	.	AC=3,10;AF=0.071,0.238;AN=42;BaseQRankSum=4.86;DP=4621;ExcessHet=11.8493;FS=40.936;InbreedingCoeff=-0.4483;MLEAC=3,10;MLEAF=0.071,0.238;MQ=27.91;MQRankSum=2.09;QD=0.32;ReadPosRankSum=-5.707e+00;SOR=11.070	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:298,0,50:348:99:0|1:152214821_T_A:1160,2057,14477,0,12420,12270:152214821	8	0	3	0
chr1	152214830	152214830	C	0	exonic	HRNR	.	.	.	.	.	441	924	156	0	1	157	0.0778443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	998.62	267	chr1	152214830	.	C	CATGTTGGCCACAG,*	998.62	.	AC=3,10;AF=0.071,0.238;AN=42;BaseQRankSum=4.04;DP=4604;ExcessHet=11.8493;FS=41.163;InbreedingCoeff=-0.4483;MLEAC=3,10;MLEAF=0.071,0.238;MQ=27.81;MQRankSum=1.90;QD=0.27;ReadPosRankSum=-5.805e+00;SOR=11.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:298,0,50:348:99:0|1:152214821_T_A:1160,2057,14477,0,12420,12270:152214821	8	0	3	0
chr1	152218546	152218546	C	T	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G3083A:p.R1028K,	.	.	420	1088	13	1	0	15	0.00684619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.89	T	0.003	B	0.0	B	.	.	1.000	N	0.55	N	4.51	T	-0.940	T	0.001	T	0.119	0.772	8.077	-0.934	-0.316	-2.854	6.410	0.012	0.00205941874828	0.0005	0.000399361	0.0006	9.61e-05	0.0005	0.0002	0	0.0003	0.0011	0.0027	0.0004916	76	154602	rs139825906	0.0005	0.0005	0.0004	0.0006	0.0033	0.0005	0.0005	0.0029	0.0028	2.987e-05	0.0006	0.0011	0	1.872e-05	0.0016	0.0004	0.0007	0.0033	0.0003	0.0003	0.0003	0.0003	0.0023	0.0002	0.0002	0.0013	0.0010	7.23e-05	0	0.0003	0.0012	0	0	0	0.0003	0.0005	0.0023	1.0	0.00964	T	0.997	0.02325	T	0.003	0.11197	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	4.51	0.02015	T	-0.49	0.15578	N	0.1	0.08227	-0.9403	0.42568	T	0.001	0.00438	T	9	0.009475589	0.00214	T	0.002059	0.03775	T	0.012	0.01476	.	.	0.301455362545	0.29754	0.0052821143759877445	0.00499	.	.	0.539631009102	0.44393	T	0.016013	0.13319	T	-0.680243	0.00048	T	-0.753577	0.03349	T	0.00397605125544285	0.00042	T	0.180382	0.01798	T	0.064437516	0.13672	0.05156177	0.08322	0.064437516	0.13671	0.05156177	0.08321	-6.278	0.48548	T	.	.	0.145	0.31882	B	.	.	0.113539	0.05123	1.652	0.5233946700520915	0.04729	0.00637	0.02791	N	AEFBI	0.032491	0.03683	N	-1.50900998435382	0.01790	0.07843129	-1.54717309693685	0.01995	0.09115902	1.30687003692073E-5	0.02871	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.41	-0.934	0.09897	-0.294000	0.08346	.	.	-0.373000	0.05434	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.506:0.0:0.494	6.410	0.20889	569	0.70546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4702.98	353	chr1	152218546	.	C	T	4702.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.43;DP=4423;ExcessHet=0.0000;FS=1.188;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.97;MQRankSum=-2.227e+00;QD=7.59;ReadPosRankSum=0.240;SOR=0.613	GT:AD:DP:GQ:PL	0/1:424,196:620:99:4717,0,11683	20	0	1	0
chr1	152219623	152219623	A	G	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.T2006C:p.F669S,	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.0	B	.	.	1.000	N	-1.525	N	4.37	T	-0.994	T	0.001	T	0.064	0.607	7.269	2.52	0.651	-0.409	8.714	0.034	.	.	0.00279553	0.0009	0	0.0002	0	0	4.495e-05	0	0.0061	0.0007956	123	154602	rs77790012	0.0004	0.0005	0.0002	0.0006	0.0064	0.0004	0.0004	0.0059	0.0058	0	2.264e-05	0	0.0001	0	0.0002	6.338e-06	0.0004	0.0064	0.0003	0.0004	0.0002	0.0004	0.0096	0.0002	0.0002	0.0072	0.0064	2.695e-05	0	0	0	0.0002	0	0	3.363e-05	0	0.0096	0.125	0.27310	T	0.709	0.05544	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.325	0.00090	N	4.37	0.02277	T	2.95	0.00148	N	0.094	0.07398	-0.9944	0.31459	T	0.001	0.00255	T	9	0.005220473	0.00114	T	.	.	.	0.034	0.08419	.	.	0.295623431141	0.29171	0.033653172035226414	0.03313	.	.	0.560231804848	0.47300	T	0.013727	0.11817	T	-0.410801	0.01963	T	-0.827863	0.01300	T	0.021996538704179	0.00908	T	0.142786	0.01162	T	0.029769693	0.02527	0.0867597	0.20122	0.029769693	0.02526	0.0867597	0.20121	2.422	0.00035	T	.	.	0.069	0.03093	B	.	.	-0.250657	0.02843	0.398	0.56543394743680775	0.05575	0.00010	0.00151	N	AEFBI	0.010405	0.00074	N	-1.43805631999196	0.02312	0.1019549	-1.35977285290676	0.03692	0.1727441	7.52600819089051E-5	0.04552	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.44	2.52	0.29514	-0.631000	0.05593	.	.	-1.235000	0.01322	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1177:0.0:0.8823:0.0	8.714	0.33561	570	0.70478	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.05	356.82	390	chr1	152219623	.	A	G	356.82	.	AC=2;AF=0.050;AN=40;BaseQRankSum=2.89;DP=8803;ExcessHet=0.1072;FS=7.455;InbreedingCoeff=-0.0515;MLEAC=1;MLEAF=0.025;MQ=59.04;MQRankSum=-1.697e+01;QD=0.38;ReadPosRankSum=-6.878e+00;SOR=1.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:435,40:475:99:0|1:152219622_A_G:370,0,18117:152219622	18	0	2	1
chr1	152219626	152219626	T	C	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.A2003G:p.D668G,	.	.	424	1094	2	0	2	4	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.0	B	0.0	B	.	.	1.000	N	-1.355	N	3.82	T	-0.930	T	0.001	T	0.075	0.541	6.927	-4.87	-1.002	-2.367	5.561	0.022	0.00115791171022	.	.	2.471e-05	0	0	0	0	4.495e-05	0	0	0.00073	19	26028	rs201373508	8.49e-06	0.0001	9.849e-06	7.115e-06	3.53e-05	4.53e-06	3.58e-06	9.38e-06	4.6e-06	0	0	0	0	0	0	7.41e-06	1.742e-05	3.53e-05	4.634e-05	0.0002	7.256e-05	1.895e-05	0.0002	1.755e-05	1.184e-05	3.046e-05	1.262e-05	3.18e-05	0	0.0002	0	0	0	0	4.303e-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	-2.49	0.00058	N	3.82	0.03728	T	1.88	0.00467	N	0.075	0.04913	-0.9305	0.44066	T	0.001	0.00287	T	9	0.023259073	0.00603	T	0.001158	0.01459	T	0.022	0.04323	.	.	0.134241683229	0.13084	0.025996270308110095	0.02550	.	.	0.479595899582	0.36001	T	0.01356	0.11709	T	-0.417779	0.01767	T	-0.837887	0.01131	T	0.0233545887119417	0.01065	T	0.194581	0.02117	T	0.026619844	0.01743	0.05906723	0.11022	0.026619844	0.01743	0.05906723	0.11022	1.939	0.00055	T	.	.	0.092	0.13503	B	.	.	-0.821274	0.01066	0.046	0.43249806253065387	0.03243	0.00199	0.01145	N	AEFBI	0.017387	0.00452	N	-1.79079954483704	0.00568	0.02446565	-1.8032040271601	0.00749	0.03338449	3.23504371043759E-4	0.06540	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.44	-4.87	0.02893	-2.060000	0.01480	.	.	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4184:0.2235:0.3581	5.561	0.16427	570	0.70478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1669.56	390	chr1	152219626	.	T	C	1669.56	.	AC=2;AF=0.053;AN=38;BaseQRankSum=5.72;DP=9128;ExcessHet=0.1072;FS=13.411;InbreedingCoeff=-0.0771;MLEAC=2;MLEAF=0.053;MQ=58.22;MQRankSum=-1.842e+01;QD=1.68;ReadPosRankSum=-8.378e+00;SOR=1.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:444,79:523:99:0|1:152219622_A_G:1609,0,18302:152219622	17	0	2	2
chr1	152303212	152303212	G	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.C11674T:p.R3892W,	Ichthyosis vulgaris, Autosomal dominant	.	0	1465	57	0	0	57	0.0190827	.	.	1195846	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.964	D	0.183	B	.	.	1.000	N	1.1	L	4.66	T	-0.860	T	0.002	T	0.141	1.278	10.18	1.13	0.403	0.711	5.602	0.082	0.00554769908557	0.0016	0.00159744	0.0027	0.0005	0.0010	0.0002	0.0054	0.0021	0.0044	0.0076	0.0023415	362	154602	rs141128022	0.0021	0.0021	0.0018	0.0024	0.0089	0.0020	0.0020	0.0084	0.0082	0.0003	0.0016	0.0083	2.519e-05	0.0048	0.0062	0.0014	0.0029	0.0089	0.0018	0.0019	0.0017	0.0020	0.0060	0.0017	0.0016	0.0043	0.0037	0.0004	0	0.0018	0.0081	0	0.0061	0.0068	0.0016	0.0019	0.0060	0.107	0.29554	T	.	.	.	0.964	0.55854	D	0.183	0.35961	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	4.66	0.01756	T	-0.69	0.19720	N	0.142	0.14196	-0.8597	0.51284	T	0.002	0.00526	T	9	0.0057953596	0.00129	T	0.005548	0.14319	T	0.082	0.23913	.	.	0.328222422547	0.32431	0.015331430378345676	0.01489	.	.	0.205580681562	0.00637	T	0.027624	0.20190	T	-0.616504	0.00115	T	-0.652933	0.08750	T	0.0155825827814693	0.00355	T	0.49745	0.15470	T	0.04290102	0.06590	0.030120097	0.01429	0.04290102	0.06589	0.030120097	0.01428	-6.245	0.48285	T	.	.	0.160	0.35456	B	.	.	2.053606	0.26105	17.00	0.98448850519908393	0.41598	0.06603	0.12618	N	AEFBI	0.077473	0.15610	N	-0.566929061247806	0.19955	1.048469	-0.755836527502834	0.15580	0.8200499	1.46969122758361E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.17	1.13	0.19758	1.153000	0.31287	.	.	0.613000	0.49114	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.676:0.324	5.602	0.16640	557	0.71576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4377.98	33	chr1	152303212	.	G	A	4377.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.62;DP=1330;ExcessHet=0.0000;FS=7.126;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=-5.270e-01;SOR=0.439	GT:AD:DP:GQ:PL	0/1:186,160:346:99:4392,0,4790	20	0	1	0
chr1	153760378	153760378	C	G	exonic	INTS3	.	nonsynonymous SNV	INTS3:NM_023015:exon12:c.C1305G:p.D435E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.992	D	0.986	D	0.000	D	0.999	D	1.31	L	.	.	-0.865	T	0.172	T	0.819	4.131	21.3	2.28	0.340	1.167	8.751	0.557	0.0101042060593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.109e-06	3.763e-05	5.452e-06	2.753e-06	5.404e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.404e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.096	0.39340	T	0.99	0.63424	D	0.971	0.76916	D	0.000000	0.84330	D	0.000000	0.999453	0.47118	D	.	.	.	.	.	.	-3.57	0.68999	D	0.889	0.88798	-0.8647	0.50922	T	0.172	0.51484	T	9	0.8319566	0.82357	D	0.010104	0.26235	T	0.557	0.81774	.	.	0.721551216883	0.71909	0.6563577712550202	0.65571	2.15008403777	0.95306	0.843462109566	0.88622	D	.	.	.	0.223	0.76021	D	0.0819729	0.75709	D	0.98498809337616	0.76116	D	.	.	.	.	.	.	.	.	.	.	.	-3.456	0.16153	T	.	.	0.998	0.97160	P	.;.;.	.;.;.	3.646224	0.51727	23.1	0.99633933635678729	0.76203	0.93226	0.57654	D	AEFBI	0.403545	0.47719	N	0.0683850253580956	0.44993	2.763348	0.0345004263229141	0.41329	2.481153	0.733851878871199	0.23096	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	2.28	0.27583	0.899000	0.28049	2.750000	0.34528	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.7504:0.0:0.2496	8.751	0.33774	123	0.95099	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	2593.87	40	chr1	153760378	.	C	G	2593.87	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.650e+00;DP=2714;ExcessHet=17.4423;FS=282.183;InbreedingCoeff=-0.5203;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=1.34;ReadPosRankSum=0.949;SOR=11.919	GT:AD:DP:GQ:PL	0/1:99,61:160:99:328,0,1165	6	0	15	0
chr1	154869726	154869726	-	GCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGC:p.Q80_P81insQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	1/2:0,15,23,0,3,0,0:41:99:2152,845,701,601,0,464,1670,819,541,1602,1541,704,414,1474,1463,1670,819,541,1602,1474,1602,1670,819,541,1602,1474,1602,1602	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs746397332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	1/2:0,15,23,0,3,0,0:41:99:2152,845,701,601,0,464,1670,819,541,1602,1541,704,414,1474,1463,1670,819,541,1602,1474,1602,1670,819,541,1602,1474,1602,1602	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	1/2:0,15,23,0,3,0,0:41:99:2152,845,701,601,0,464,1670,819,541,1602,1541,704,414,1474,1463,1670,819,541,1602,1474,1602,1670,819,541,1602,1474,1602,1602	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGC:p.Q80_P81insQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	1/2:0,15,23,0,3,0,0:41:99:2152,845,701,601,0,464,1670,819,541,1602,1541,704,414,1474,1463,1670,819,541,1602,1474,1602,1670,819,541,1602,1474,1602,1602	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	1/2:0,15,23,0,3,0,0:41:99:2152,845,701,601,0,464,1670,819,541,1602,1541,704,414,1474,1463,1670,819,541,1602,1474,1602,1670,819,541,1602,1474,1602,1602	0	1	0	0
chr1	155031706	155031706	C	T	exonic	DCST2	.	nonsynonymous SNV	DCST2:NM_144622:exon4:c.G607A:p.G203S,	.	.	428	1077	16	1	0	18	0.00828729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.989	D	0.746	P	0.000	D	0.877	D	1.04	L	1.83	T	-1.095	T	0.039	T	0.334	4.708	26.1	4.76	1.407	3.706	11.784	0.142	.	0.0008	0.00359425	0.0024	0	0.0006	0	0.0002	0.0006	0.0022	0.0148	0.0021022	325	154602	rs143867546	0.0012	0.0012	0.0007	0.0016	0.0140	0.0011	0.0011	0.0134	0.0131	0.0001	0.0004	0.0014	0	0.0006	0.0040	0.0003	0.0015	0.0140	0.0006	0.0006	0.0004	0.0008	0.0085	0.0005	0.0004	0.0064	0.0057	2.406e-05	0.0055	0.0002	0.0014	0	0.0004	0	0.0004	0.0005	0.0085	0.0	0.91255	D	0.0	0.92824	D	0.989	0.62824	D	0.746	0.55899	P	0.000002	0.62929	D	0.000000	0.877179	0.35677	D	2.455	0.71248	M	1.77	0.25841	T	-4.39	0.77225	D	0.609	0.62611	-1.0952	0.04723	T	0.039	0.16720	T	10	0.0073500276	0.00167	T	.	.	.	0.142	0.37995	.	.	0.396494342077	0.39262	0.6308940543916751	0.63023	0.247040294134	0.27239	0.543425798416	0.44929	T	0.353173	0.72051	T	-0.426254	0.01562	T	-0.373385	0.36493	T	0.0790607385132927	0.09866	T	0.780822	0.41560	T	0.67530733	0.76718	0.54595006	0.73753	0.67530733	0.76719	0.54595006	0.73754	-10.341	0.75928	D	.	.	0.355	0.56869	A	.	.	4.282848	0.65252	24.8	0.99858674468472719	0.93729	0.85127	0.44234	D	AEFBI	0.578397	0.57962	D	0.319765875406958	0.57162	3.882741	0.355873199408779	0.58862	4.059571	0.162697727887977	0.17617	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.67	4.76	0.60189	3.611000	0.53881	5.983000	0.52202	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.9173:0.0:0.0827	11.784	0.51303	256	0.89942	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1425.98	35	chr1	155031706	.	C	T	1425.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.183;DP=825;ExcessHet=0.0000;FS=0.783;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.70;ReadPosRankSum=0.447;SOR=0.557	GT:AD:DP:GQ:PL	0/1:40,57:97:99:1440,0,915	20	0	1	0
chr1	155189519	155189578	GCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCTCTC	-	exonic	MUC1	.	nonframeshift deletion	MUC1:NM_001371720:exon6:c.2043_2102del:p.R682_A701del,	Medullary cystic kidney disease 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0223	0.0008	0.0190	0.0249	0.0357	0.0156	0.0134	0.0163	0.0136	0	0	0	0.0357	0.0305	0	0.0246	0	0	0	0.0016	0	0	.	0	0	.	.	0	.	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03846	144.27	16	chr1	155189518	.	GGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCTCTC	G	144.27	.	AC=1;AF=0.038;AN=26;DP=307;ExcessHet=0.0000;FS=3.136;InbreedingCoeff=-0.1544;MLEAC=2;MLEAF=0.077;MQ=39.91;MQRankSum=-5.660e-01;QD=20.61;SOR=1.492	GT:AD:DP:GQ:PL	0/1:3,4:7:42:154,0,42	12	0	1	8
chr1	155752120	155752120	C	T	exonic	GON4L	.	nonsynonymous SNV	GON4L:NM_001282856:exon30:c.G6313A:p.E2105K	.	.	0	1450	67	5	0	77	0.025865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.634	P	0.234	B	0.069	N	1.000	D	1.39	L	2.74	T	-1.019	T	0.014	T	0.411	4.129	21.3	4.66	2.439	2.700	15.177	0.066	.	0.0025	0.00579073	0.0062	0.0004	0.0026	0.0002	0.0003	0.0042	0.0089	0.0253	0.0052328	809	154602	rs201235180	0.0040	0.0040	0.0033	0.0048	0.0233	0.0040	0.0039	0.0224	0.0221	0.0006	0.0023	0.0126	7.557e-05	0.0004	0.0163	0.0027	0.0050	0.0233	0.0035	0.0035	0.0033	0.0038	0.0214	0.0033	0.0032	0.0180	0.0168	0.0008	0.0033	0.0060	0.0153	0	9.42e-05	0.0034	0.0036	0.0033	0.0214	0.059	0.37750	T	0.472	0.12176	T	0.501	0.40281	P	0.118	0.38393	B	0.069109	0.21627	N	0.393081	0.688873	0.33306	D	1.5	0.37844	L	2.74	0.11730	T	-0.91	0.24460	N	0.2	0.22098	-1.0192	0.23975	T	0.014	0.05705	T	10	0.0030045211	0.00049	T	.	.	.	0.066	0.19193	.	.	0.225033846419	0.22103	0.22807142473717912	0.22722	2.18874785332	0.95615	0.369694828987	0.20788	T	0.084368	0.37264	T	-0.494657	0.00613	T	-0.465063	0.26050	T	0.0188610296394352	0.00597	T	0.762524	0.38803	T	0.10332762	0.24422	0.089615405	0.20966	0.10332762	0.24422	0.089615405	0.20966	-2.751	0.07742	T	.	.	0.089	0.12228	B	.;.;.;.	.;.;.;.	2.628840	0.34181	19.55	0.9976408111968329	0.85335	0.93716	0.58987	D	AEFGBI	0.207875	0.33400	N	-0.089953946318772	0.37831	2.206798	-0.0311092840130838	0.38317	2.255807	0.826733732227707	0.24620	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.66	4.66	0.57857	3.138000	0.50265	1.270000	0.25285	0.591000	0.32079	0.676000	0.28402	0.705000	0.26257	0.539000	0.29915	0.0:1.0:0.0:0.0	15.177	0.72599	68	0.97118	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3196.11	43	chr1	155752120	.	C	T	3196.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.51;DP=987;ExcessHet=0.1072;FS=3.078;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=55.72;MQRankSum=0.656;QD=14.87;ReadPosRankSum=0.918;SOR=0.902	GT:AD:DP:GQ:PL	0/1:51,62:113:99:1826,0,1368	19	0	2	0
chr1	156011822	156011822	G	C	exonic	SSR2	.	nonsynonymous SNV	SSR2:NM_003145:exon5:c.C429G:p.F143L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.984	D	0.87	P	0.000	D	1.000	D	2.555	M	.	.	-0.257	T	0.378	T	0.881	2.778	15.25	5.55	2.894	4.402	17.055	0.184	0.18042830021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.568e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.91255	D	0.031	0.55341	D	0.984	0.60733	D	0.87	0.61806	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.79	0.81396	M	.	.	.	-5.39	0.85994	D	0.84	0.83576	-0.2573	0.76161	T	0.378	0.73580	T	9	0.9662193	0.96110	D	0.180428	0.85489	D	0.551	0.81427	0.936	0.99075	0.416446257289	0.41261	0.8283436009707257	0.82792	1.40670516952	0.85333	0.792496502399	0.80822	T	0.534141	0.83931	D	0.416006	0.90809	D	0.359788	0.90695	D	0.99421751499176	0.85377	D	0.939106	0.80601	D	0.76359487	0.81666	0.72925085	0.84003	0.76359487	0.81667	0.72925085	0.84004	-10.5	0.76847	D	.	.	1.000	0.99795	P	.;.;.	.;.;.	5.067605	0.84496	28.3	0.91990689601245867	0.21324	0.98329	0.81685	D	AEFGBI	0.901337	0.84791	D	0.542252554756067	0.69612	5.381701	0.583687799372267	0.73772	6.02523	0.999999999487927	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.55	5.55	0.83298	4.832000	0.62449	6.328000	0.55455	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	17.055	0.86406	196	0.92420	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3929	2240.58	53	chr1	156011822	.	G	A,C	2240.58	.	AC=10,1;AF=0.357,0.036;AN=28;BaseQRankSum=-2.019e+00;DP=1509;ExcessHet=7.7275;FS=191.539;InbreedingCoeff=-0.5270;MLEAC=13,1;MLEAF=0.464,0.036;MQ=60.00;MQRankSum=0.00;QD=2.34;ReadPosRankSum=0.481;SOR=10.626	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,21,0:92:99:0|1:156011822_G_A:209,0,2194,420,2256,2676:156011822	3	0	10	7
chr1	156154712	156154712	A	G	exonic	SEMA4A	.	nonsynonymous SNV	SEMA4A:NM_001370567:exon1:c.A134G:p.Y45C	Cone-rod dystrophy 10, Autosomal recessive;Retinitis pigmentosa 35, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1002185	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	0.56	P	0.375	B	0.032	N	1.000	N	0.69	N	2.35	T	-1.032	T	0.015	T	0.357	2.650	14.82	-4.05	-0.528	-0.956	2.201	0.074	0.00395320162362	.	.	2.301e-05	0	0	0	0	4.49e-05	0	0	1.29e-05	2	154602	rs767886618	5.172e-05	5.267e-05	5.398e-05	4.942e-05	6.565e-05	4.215e-05	3.86e-05	5.32e-05	4.889e-05	0	0	0	2.573e-05	0	0	6.565e-05	1.682e-05	0	5.258e-05	5.254e-05	6.423e-05	4.037e-05	0.0001	2.558e-05	1.83e-05	5.843e-05	4.24e-05	0	0	0	0	0	0	0	0.0001	0	0	0.162	0.32453	T	0.2	0.33109	T	0.56	0.38344	P	0.375	0.43710	B	0.031839	0.01743	N	2.699270	1	0.20447	N	0.69	0.16971	N	2.14	0.19450	T	-1.22	0.31778	N	0.307	0.34659	-1.0323	0.19713	T	0.015	0.05897	T	10	0.07168448	0.10601	T	0.003953	0.09337	T	0.074	0.21613	.	.	0.123314135267	0.11883	0.5409649991807611	0.54021	0.368016935598	0.38361	0.320726394653	0.13531	T	0.062989	0.32060	T	-0.358334	0.04225	T	-0.55885	0.16485	T	0.0986715704202652	0.12211	T	0.20168	0.02372	T	0.07070128	0.15596	0.04404909	0.05620	0.07070128	0.15595	0.04404909	0.05620	-5.318	0.40121	T	0.1268651745352196	0.12887	0.089	0.12418	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.035619	0.14157	10.73	0.92780785123513287	0.22296	0.03469	0.08624	N	ALL	0.087528	0.17747	N	-0.84497429786754	0.12174	0.5917956	-0.988009762375628	0.10054	0.5039911	0.999999964874203	0.74766	0.615465	0.37627	0	0.52208	0.09955	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	3.71	-4.05	0.03730	-1.102000	0.03443	-2.460000	0.03727	-0.174000	0.10959	0.000000	0.06391	0.000000	0.08366	0.967000	0.53440	0.3073:0.4363:0.1046:0.1518	2.201	0.03683	489	0.76795	Sema domain;.;Sema domain;Sema domain;Sema domain;Sema domain;Sema 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	1	0	0	0	0.02381	577.98	39	chr1	156154712	.	A	G	577.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.06;DP=741;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.11;ReadPosRankSum=0.728;SOR=0.776	GT:AD:DP:GQ:PL	0/1:29,23:52:99:592,0,729	20	0	1	0
chr1	156244810	156244810	G	A	exonic	PAQR6	.	nonsynonymous SNV	PAQR6:NM_001272109:exon4:c.C44T:p.S15L	.	.	404	1060	53	5	0	63	0.0288594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0078	0.00539137	0.0075	0.0028	0.0040	0.0013	0.0013	0.0082	0.0103	0.0155	0.007115	1100	154602	rs62001925	0.0076	0.0076	0.0073	0.0079	0.0232	0.0075	0.0074	0.0200	0.0188	0.0018	0.0053	0.0135	0.0006	0.0010	0.0232	0.0074	0.0097	0.0160	0.0060	0.0060	0.0060	0.0059	0.0170	0.0057	0.0055	0.0140	0.0129	0.0023	0.0230	0.0070	0.0115	0.0017	0.0006	0.0340	0.0076	0.0114	0.0170	.	.	.	.	.	.	0.083	0.24734	B	0.017	0.18140	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.137	0.13484	.	.	.	.	.	.	.	0.0033493936	0.00058	T	.	.	.	.	.	.	.	0.458101713262	0.45433	.	.	.	.	.	.	.	0.00487	0.04291	T	-0.438103	0.01327	T	-0.389108	0.34655	T	.	.	.	0.320168	0.06459	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.56442	A	.;.;.	.;.;.	1.484603	0.19108	14.09	0.89943610925400397	0.19240	0.35978	0.25427	N	AEFDGBCI	0.008851	0.00045	N	.	.	.	.	.	.	0.999988333354985	0.51787	0.634777	0.41761	0	0.643519	0.57511	0	0.606735	0.37207	0	0.664235	0.64389	0	.	.	4.88	-1.29	0.08805	0.152000	0.16120	-0.014000	0.13018	-0.667000	0.04321	0.974000	0.34632	0.019000	0.20708	0.966000	0.53164	0.6058:0.0:0.3942:0.0	9.663	0.39134	293	0.88320	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2933.68	67	chr1	156244810	.	G	A	2933.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.647;DP=892;ExcessHet=0.3300;FS=6.828;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=0.778;SOR=0.413	GT:AD:DP:GQ:PL	0/1:50,54:104:99:1375,0,1258	18	0	3	0
chr1	156244850	156244850	C	A	exonic	PAQR6	.	nonsynonymous SNV	PAQR6:NM_001272109:exon4:c.G4T:p.A2S	.	.	411	1053	53	5	0	63	0.0290456	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.019	B	0.054	B	0.034	N	1.000	D	0	N	1.83	T	-1.005	T	0.011	T	0.389	0.846	8.419	2.7	0.539	0.024	7.627	0.052	.	0.0077	0.00539137	0.0075	0.0027	0.0041	0.0013	0.0013	0.0081	0.0104	0.0155	0.007031	1087	154602	rs34514408	0.0075	0.0075	0.0072	0.0078	0.0231	0.0074	0.0074	0.0199	0.0187	0.0018	0.0053	0.0135	0.0006	0.0010	0.0231	0.0073	0.0096	0.0160	0.0060	0.0060	0.0060	0.0059	0.0170	0.0057	0.0055	0.0140	0.0129	0.0023	0.0230	0.0070	0.0115	0.0015	0.0006	0.0340	0.0076	0.0114	0.0170	0.167	0.23095	T	0.492	0.11479	T	0.019	0.17989	B	0.054	0.25828	B	0.033899	0.24840	N	0.457104	0.999514	0.47363	D	0.55	0.14455	N	1.83	0.24841	T	-0.68	0.21860	N	0.204	0.22614	-1.0048	0.28517	T	0.011	0.04227	T	10	0.003630519	0.00066	T	.	.	.	0.052	0.14661	.	.	0.0482279557977	0.04254	0.32600190541541246	0.32513	0.334413534742	0.35461	0.279182732105	0.07379	T	0.007823	0.07202	T	-0.421076	0.01683	T	-0.364649	0.37514	T	0.00801896257458957	0.00095	T	0.876612	0.58915	D	0.11884558	0.27995	0.081639044	0.18570	0.11884558	0.27994	0.081639044	0.18570	-3.89	0.22152	T	.	.	0.261	0.49548	B	.;.;.;.	.;.;.;.	0.764935	0.11347	7.965	0.85823210976325426	0.16135	0.26439	0.22993	N	AEFDGBHCI	0.240262	0.36208	N	-0.82651249844731	0.12635	0.6171331	-0.711710759728758	0.16670	0.8829094	0.999997013756232	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.606735	0.37207	0	0.664235	0.64389	0	.	.	4.64	2.7	0.31007	-0.096000	0.11027	-0.102000	0.11930	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.840000	0.39645	0.0:0.5923:0.3213:0.0864	7.627	0.27385	290	0.88477	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	2340.68	47	chr1	156244850	.	C	A	2340.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.571;DP=830;ExcessHet=0.3300;FS=5.220;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.82;ReadPosRankSum=-4.030e-01;SOR=0.431	GT:AD:DP:GQ:PL	0/1:37,48:85:99:1136,0,944	18	0	3	0
chr1	156266009	156266009	G	A	exonic	SMG5	.	nonsynonymous SNV	SMG5:NM_001323615:exon11:c.C1489T:p.R497W	.	.	424	1041	53	4	0	61	0.0284648	.	.	696155	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.476	P	0.153	B	0.291	N	0.692	N	0	N	1.4	T	-1.048	T	0.026	T	0.227	2.745	15.14	5.51	2.576	2.352	13.027	0.048	.	0.0071	0.00419329	0.0066	0.0016	0.0043	0.0001	0.0012	0.0082	0.0088	0.0102	0.0064035	990	154602	rs34377219	0.0073	0.0073	0.0071	0.0074	0.0224	0.0071	0.0071	0.0192	0.0180	0.0013	0.0055	0.0153	0.0001	0.0010	0.0224	0.0073	0.0092	0.0116	0.0055	0.0056	0.0058	0.0053	0.0118	0.0052	0.0051	0.0094	0.0085	0.0014	0.0220	0.0067	0.0144	0.0002	0.0006	0.0340	0.0076	0.0095	0.0118	0.006	0.61437	D	0.018	0.59732	D	0.476	0.36665	P	0.153	0.34292	B	0.290797	0.14772	N	0.672822	1	0.30179	N	0	0.06538	N	1.4	0.33630	T	-2.03	0.46673	N	0.316	0.35620	-1.0481	0.14932	T	0.026	0.11131	T	10	0.0035678446	0.00064	T	.	.	.	0.048	0.13305	.	.	0.176862962021	0.17281	0.1836607337102502	0.18285	0.413816520075	0.42075	0.314859569073	0.12643	T	0.057437	0.30565	T	-0.512611	0.00485	T	-0.499711	0.22378	T	0.0143363421666053	0.00286	T	0.858514	0.54939	D	0.07342955	0.16406	0.09569561	0.22706	0.07342955	0.16406	0.09569561	0.22705	-6.201	0.47931	T	.	.	0.091	0.13315	B	.	.	4.092404	0.60962	24.3	0.99873603549208556	0.95076	0.77767	0.38276	D	AEFGBCI	0.454368	0.50710	N	0.0271364480227597	0.43090	2.608939	0.194113991504032	0.49524	3.154545	0.999994183624492	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	2.468000	0.44759	6.509000	0.55803	0.676000	0.76740	0.969000	0.34210	0.999000	0.35428	0.985000	0.61073	0.0:0.0:0.8388:0.1612	13.027	0.58226	290	0.88477	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	7277.68	165	chr1	156266009	.	G	A	7277.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.41;DP=1184;ExcessHet=0.3300;FS=1.758;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=14.05;ReadPosRankSum=-1.690e-01;SOR=0.561	GT:AD:DP:GQ:PL	0/1:80,86:166:99:2441,0,1905	18	0	3	0
chr1	156815838	156815838	G	C	exonic	NTRK1	.	nonsynonymous SNV	NTRK1:NM_001007792:exon1:c.G9C:p.E3D,	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	.	.	.	.	.	.	.	.	0.0003	0.01	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.004	B	0.004	B	.	.	1.000	N	0	N	-0.97	T	-0.994	T	0.083	T	0.07	2.192	13.29	2.36	0.744	0.242	6.516	0.177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	0.0001	1.362e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.18198	N	.	.	.	-0.97	0.75670	T	-0.05	0.07736	N	0.05	0.02179	-0.9939	0.31591	T	0.083	0.32499	T	9	0.082740545	0.13688	T	0.007492	0.19872	T	0.177	0.44549	0.115	0.02372	0.51372946856	0.51013	.	.	.	.	.	.	.	.	.	.	-0.1645	0.26071	T	-0.474069	0.25079	T	0.22831466794014	0.21871	T	0.333767	0.07077	T	.	.	.	.	.	.	.	.	-3.709	0.19451	T	.	.	.	.	.	.	.	1.156672	0.15452	11.86	0.96680647164573041	0.30697	0.17383	0.19813	N	AEFGBCI	0.071145	0.14151	N	-0.913840955761567	0.10517	0.5029817	-0.907916361291049	0.11907	0.6094711	0.999995659671766	0.74766	0.541725	0.22260	1	0.459889	0.06624	1	0.616487	0.41570	0	0.635259	0.50027	0	.	.	4.23	2.36	0.28258	0.251000	0.18025	0.143000	0.15197	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.106000	0.18562	0.2157:0.0:0.7843:0.0	6.516	0.21443	721	0.55360	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	470.92	92	chr1	156815838	.	G	C	470.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-4.519e+00;DP=2320;ExcessHet=0.6776;FS=154.586;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.85;ReadPosRankSum=1.30;SOR=10.150	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:122,36:161:99:.:.:204,0,3726	17	0	4	0
chr1	156815839	156815839	G	C	splicing	NTRK1	NM_001007792:exon1:c.9+1G>C	.	.	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	.	.	.	.	.	.	.	.	0.0001	0.002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	N	.	.	.	.	.	.	.	.	.	0.675	7.612	1.31	0.316	-0.180	4.184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.214e-06	0.0002	1.09e-05	5.503e-06	2.988e-05	4.38e-06	3.46e-06	5.31e-06	3.88e-06	2.988e-05	0	0	0	0	0	9.899e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.996889	0.22868	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.368844	0.03652	T	-0.767596	0.02848	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.462841	0.18854	13.96	0.7159568618309291	0.09682	0.05745	0.11673	N	AEFGBCI	.	.	.	-0.545425066812517	0.20627	1.088785	-0.702648580947352	0.16894	0.8958837	0.999991161713536	0.74766	0.125411	0.03135	0	0.10752	0.03338	0	0.127595	0.03524	0	0.057669	0.00882	0	0.11426	0.24032	4.23	1.31	0.20837	-0.173000	0.09844	0.057000	0.14080	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.102000	0.18378	0.2167:0.2117:0.5716:0.0	4.184	0.09851	721	0.55360	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1192.72	73	chr1	156815839	.	G	C	1192.72	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-4.688e+00;DP=2417;ExcessHet=3.5521;FS=187.374;InbreedingCoeff=-0.2541;MLEAC=8;MLEAF=0.200;MQ=60.00;MQRankSum=0.00;QD=1.11;ReadPosRankSum=1.23;SOR=11.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:122,36:161:99:.:.:204,0,3726	12	0	8	1
chr1	160164164	160164164	C	T	exonic	ATP1A4	.	nonsynonymous SNV	ATP1A4:NM_144699:exon7:c.C787T:p.R263W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.984	D	0.000	D	1.000	D	3.08	M	-2.77	D	0.674	D	0.803	D	0.623	2.245	13.46	3.55	2.512	-0.283	5.196	0.475	0.0285851485943	0.0005	0.000199681	0.0003	0.0003	0	0	0	0.0005	0	0.0003	0.0003752	58	154602	rs146761116	0.0008	0.0008	0.0008	0.0009	0.0010	0.0008	0.0008	0.0009	0.0009	2.987e-05	0.0001	0	0	0	0.0002	0.0010	0.0011	0.0006	0.0005	0.0005	0.0003	0.0006	0.0025	0.0004	0.0003	0.0014	0.0011	0.0001	0	6.54e-05	0	0	0	0	0.0007	0.0005	0.0025	0.001	0.78490	D	0.062	0.45318	T	1.0	0.90584	D	0.984	0.76113	D	0.000209	0.47681	D	0.183165	0.609171	0.30875	N	2.56	0.74772	M	-2.77	0.90904	D	-4.89	0.81431	D	0.335	0.37613	0.674	0.92842	D	0.803	0.93347	D	10	0.19441065	0.35250	T	0.028585	0.51241	D	0.475	0.76751	.	.	0.954137886206	0.95365	0.7293251397147187	0.72877	0.210292740051	0.23518	0.222444012761	0.01455	T	0.710809	0.91750	D	-0.161534	0.26523	T	-0.0120729	0.69549	D	0.246555286998863	0.22718	T	0.979702	0.93041	D	0.6042626	0.72920	0.58212376	0.75776	0.6042626	0.72921	0.58212376	0.75776	-10.488	0.76778	D	.	.	0.116	0.23500	B	.	.	2.605800	0.33832	19.46	0.99913476469262241	0.98238	0.34187	0.25008	N	AEFBCI	0.400271	0.47522	N	0.312798971305782	0.56804	3.845881	0.115402261499679	0.45335	2.798545	0.999972671131777	0.50053	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.54	3.55	0.39770	0.046000	0.13919	0.344000	0.17410	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.040000	0.14268	0.2037:0.6931:0.0:0.1032	5.196	0.14565	579	0.69780	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1704.98	36	chr1	160164164	.	C	T	1704.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.38;DP=876;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.53;ReadPosRankSum=-5.810e-01;SOR=0.772	GT:AD:DP:GQ:PL	0/1:65,61:126:99:1719,0,1776	20	0	1	0
chr1	161048864	161048864	C	G	exonic	ARHGAP30	.	nonsynonymous SNV	ARHGAP30:NM_001287602:exon8:c.G1626C:p.K542N	.	.	371	1150	1	0	0	1	0.000434594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.0	B	0.001	B	0.168	N	1.000	N	0.14	N	3.07	T	-0.940	T	0.010	T	0.017	-0.308	2.533	2.21	0.223	-1.239	2.806	0.026	0.00594878585391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.237e-05	0.0009	1.505e-05	9.664e-06	2.999e-05	7.73e-06	6.38e-06	9.36e-06	7.65e-06	2.999e-05	0	0	0	0	0	1.537e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.06691	T	0.539	0.12037	T	0.0	0.02946	B	0.001	0.04355	B	0.167583	0.17472	N	0.469196	1	0.19238	N	0.55	0.14455	N	3.07	0.30133	T	0.59	0.02558	N	0.032	0.00825	-0.9399	0.42632	T	0.010	0.03673	T	10	0.032844096	0.01445	T	0.005949	0.15520	T	0.026	0.05648	0.085	0.00830	0.082315109003	0.07666	0.020223521516263606	0.01975	0.0321919343221	0.03346	0.227677255869	0.01800	T	0.007284	0.06695	T	-0.397532	0.02403	T	-0.808803	0.01692	T	0.0349868424236774	0.02805	T	0.608539	0.22995	T	0.041750744	0.06205	0.033273403	0.02195	0.041750744	0.06205	0.033273403	0.02195	-4.588	0.32020	T	.	.	0.104	0.29560	B	.;.	.;.	0.272084	0.06499	2.975	0.87093396735068451	0.16984	0.17351	0.19799	N	AEFDBCI	0.077101	0.15528	N	-1.02014869570935	0.08186	0.382952	-0.959379613406779	0.10706	0.5409345	0.999970802198825	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.590023	0.30420	0	0.567892	0.33627	0	.	.	4.64	2.21	0.27042	0.214000	0.17331	0.493000	0.18920	0.587000	0.30956	0.000000	0.06391	0.004000	0.18990	0.038000	0.14061	0.2667:0.4814:0.1544:0.0974	2.806	0.05095	531	0.73574	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	5512.66	190	chr1	161048864	.	C	G	5512.66	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-5.721e+00;DP=4354;ExcessHet=20.9642;FS=217.040;InbreedingCoeff=-0.6084;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=1.61;ReadPosRankSum=1.77;SOR=13.867	GT:AD:DP:GQ:PL	0/1:153,74:227:99:532,0,2932	5	0	16	0
chr1	161589676	161589676	C	A	exonic	FCGR2C	.	unknown	UNKNOWN,	Thrombocytopenic purpura, autoimmune, Autosomal dominant	.	73	1436	8	4	1	17	0.00554017	.	.	2378904	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	.	0.0009	0.0006	0.0003	0.0008	0	0.0010	0.0011	0.0017	0.0036545	565	154602	rs111603147	0.0026	0.0059	0.0025	0.0027	0.0063	0.0025	0.0025	0.0047	0.0041	0.0015	0.0016	0.0070	0.0008	0.0004	0.0063	0.0027	0.0038	0.0023	0.0041	0.0075	0.0044	0.0038	0.0069	0.0038	0.0037	0.0052	0.0050	0.0015	0.0011	0.0050	0.0109	0.0012	0.0002	0.0180	0.0057	0.0072	0.0069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	.	.	.	.	.	.	0.148	0.15046	.	.	.	.	.	.	.	0.018492132	0.00403	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	.	.	.	.	.	.	.	.	.	.	-0.417505	0.01775	T	-0.363098	0.37692	T	.	.	.	0.0449955	0.00529	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00573	B	.;.	.;.	-1.868752	0.00135	0.002	0.77607354438358023	0.11947	0.00503	0.02366	N	AEFDBHCI	0.024735	0.01579	N	.	.	.	.	.	.	0.773651678474831	0.23715	0.074636	0.01641	0	0.084543	0.02171	0	0.03606	0.00165	1	0.074188	0.01825	0	.	.	3.29	-2.25	0.06498	-0.608000	0.05737	-4.495000	0.02127	-1.602000	0.00892	0.000000	0.06391	0.000000	0.08366	0.060000	0.15972	0.3164:0.3218:0.2051:0.1567	0.857	0.01110	878	0.29785	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	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	0.02381	207.98	187	chr1	161589676	.	C	A	207.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=7.26;DP=2183;ExcessHet=0.0000;FS=71.847;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=52.93;MQRankSum=-8.550e+00;QD=0.90;ReadPosRankSum=-4.880e-01;SOR=6.593	GT:AD:DP:GQ:PL	0/1:205,26:231:99:222,0,5436	20	0	1	0
chr1	165743215	165743215	G	C	exonic	TMCO1	.	nonsynonymous SNV	TMCO1:NM_001256164:exon6:c.C471G:p.D157E	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.36	B	0.433	B	0.000	D	1.000	D	1.135	L	.	.	-0.981	T	0.105	T	0.858	4.070	20.9	4.33	0.955	5.327	11.107	0.283	0.00561825470216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.32355	T	0.36	0.33860	B	0.366	0.43381	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.23	0.30720	L	.	.	.	.	.	.	0.873	0.94550	-0.9809	0.34794	T	0.105	0.38513	T	8	0.7058418	0.72732	D	0.005618	0.14530	T	0.283	0.60100	0.787	0.90993	0.162503812791	0.15892	0.8982099665768731	0.89791	0.898319418033	0.70545	0.813728034496	0.84064	D	0.273669	0.64613	T	0.317	0.84250	D	0.217429	0.84044	D	0.938554227352142	0.60927	D	0.90061	0.74830	D	0.30915323	0.53713	0.28407496	0.54403	0.30915323	0.53713	0.28407496	0.54403	.	.	.	.	.	0.877	0.81325	P	.;.;.;.;.;.	.;.;.;.;.;.	3.073706	0.41320	21.3	0.99659428855862664	0.77820	0.98300	0.81404	D	AEFGBI	0.671349	0.63812	D	-0.0328772314455231	0.40371	2.396296	0.0994292813719545	0.44519	2.732209	0.972625305894158	0.29387	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	6.17	4.33	0.51083	5.433000	0.66269	5.507000	0.48788	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1486:0.0:0.8514:0.0	11.107	0.47427	893	0.26510	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	218.51	112	chr1	165743215	.	G	C	218.51	.	AC=6;AF=0.167;AN=36;BaseQRankSum=-3.149e+00;DP=1772;ExcessHet=1.7912;FS=225.654;InbreedingCoeff=-0.2159;MLEAC=6;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=0.42;ReadPosRankSum=0.715;SOR=11.634	GT:AD:DP:GQ:PL	0/1:48,22:70:43:43,0,744	12	0	6	3
chr1	171267701	171267701	C	G	exonic	FMO1	.	nonsynonymous SNV	FMO1:NM_001282692:exon2:c.C303G:p.H101Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.478	P	0.543	P	0.446	N	1.000	D	2.04	M	0.4	T	-0.861	T	0.095	T	0.159	1.051	9.292	-2.31	-0.499	-0.104	0.045	0.179	.	0.0042	0.00499201	0.0015	0.0164	0.0003	0	0	7.579e-05	0.0023	0	0.0013907	215	154602	rs56841822	0.0005	0.0005	0.0005	0.0004	0.0159	0.0004	0.0004	0.0148	0.0143	0.0159	0.0007	0	0	0	0.0005	4.05e-05	0.0013	5.83e-05	0.0043	0.0043	0.0044	0.0042	0.0149	0.0040	0.0039	0.0139	0.0135	0.0149	0	0.0014	0	0	0	0	8.819e-05	0.0057	0.0002	0.075	0.34444	T	0.115	0.36630	T	0.002	0.09854	B	0.005	0.11217	B	0.445723	0.12571	N	0.743675	1	0.81001	D	1.36	0.34107	L	0.4	0.57261	T	-3.64	0.69835	D	0.206	0.22870	-0.8606	0.51220	T	0.095	0.35791	T	10	0.007351488	0.00167	T	.	.	.	0.179	0.44899	0.192	0.10304	0.412328234245	0.40847	0.13976919691155357	0.13899	0.119698809295	0.13485	0.221383795142	0.01391	T	0.085261	0.37462	T	-0.513083	0.00482	T	-0.495504	0.22814	T	0.0551178974706064	0.06378	T	0.659934	0.26896	T	0.24312477	0.47247	0.23322298	0.48505	0.24312477	0.47247	0.23322298	0.48504	-8.004	0.61098	D	.	.	0.091	0.13362	B	.;.;.	.;.;.	0.471708	0.08413	5.168	0.88714597294124387	0.18197	0.05249	0.11084	N	ALL	0.071450	0.14224	N	-0.946238655588462	0.09778	0.464247	-1.03642558311933	0.08992	0.4449577	0.99840208144859	0.36906	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.68	-2.31	0.06380	-0.064000	0.11593	-0.126000	0.11669	-1.834000	0.00587	0.000000	0.06391	0.000000	0.08366	0.701000	0.34172	0.3041:0.2183:0.1735:0.3041	0.045	0.00008	734	0.53889	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1192.98	34	chr1	171267701	.	C	G	1192.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.327e+00;DP=794;ExcessHet=0.0000;FS=0.700;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.11;ReadPosRankSum=-3.320e-01;SOR=0.776	GT:AD:DP:GQ:PL	0/1:64,54:118:99:1207,0,1759	20	0	1	0
chr1	172551552	172551552	G	A	exonic	SUCO	.	nonsynonymous SNV	SUCO:NM_001282750:exon2:c.G103A:p.A35T	.	.	.	.	.	.	.	.	.	.	.	1567567	SUCO-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.17	T	0.001	B	0.002	B	0.575	N	0.888	N	0.345	N	.	.	-0.996	T	0.025	T	0.057	2.980	15.94	2.52	0.703	0.991	8.075	0.075	.	0.0065	0.00638978	0.0017	0.0191	0.0008	0	0	6.062e-05	0	6.123e-05	0.0016559	256	154602	rs113997299	0.0005	0.0006	0.0007	0.0004	0.0196	0.0005	0.0005	0.0184	0.0179	0.0196	0.0008	0	0	0	0	2.431e-05	0.0011	2.329e-05	0.0055	0.0055	0.0056	0.0052	0.0190	0.0051	0.0050	0.0179	0.0175	0.0190	0	0.0018	0	0	0	0	4.417e-05	0.0033	0.0002	0.027	0.46513	D	0.606	0.26467	T	0.0	0.07471	B	0.001	0.06944	B	0.575373	0.11196	N	0.748699	0.887547	0.27941	N	1.905	0.50856	L	.	.	.	0.18	0.05035	N	0.277	0.36043	-0.9962	0.30974	T	0.025	0.10553	T	9	0.0032934546	0.00057	T	.	.	.	0.075	0.21907	.	.	0.162503812791	0.15892	0.07866845278819794	0.07801	0.139667049635	0.15743	0.395820558071	0.24487	T	0.004918	0.46751	T	-0.562726	0.00244	T	-0.565498	0.15864	T	0.0188414986111095	0.00595	T	0.80392	0.45144	T	0.044575162	0.07149	0.06399853	0.12761	0.044575162	0.07149	0.06399853	0.12760	-3.885	0.22077	T	.	.	0.104	0.19032	B	.;.;.;.	.;.;.;.	2.580225	0.33455	19.34	0.99557993918672083	0.71583	0.67322	0.33391	D	AEFBIJ	0.066942	0.13135	N	-0.383472565238413	0.26057	1.419229	-0.20086488355531	0.31506	1.783649	0.999952262885852	0.48110	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.78	2.52	0.29514	1.030000	0.29760	4.832000	0.45208	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.098:0.3194:0.5826:0.0	8.075	0.29871	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	0.02381	723.98	36	chr1	172551552	.	G	A	723.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.003e+00;DP=753;ExcessHet=0.0000;FS=3.433;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=1.20;SOR=0.801	GT:AD:DP:GQ:PL	0/1:32,32:64:99:738,0,807	20	0	1	0
chr1	175160810	175160810	C	0	exonic	KIAA0040	.	.	.	.	.	430	141	484	211	256	1162	0.762626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	21772.6	79	chr1	175160810	.	C	T,*	21772.6	.	AC=20,9;AF=0.476,0.214;AN=42;BaseQRankSum=0.238;DP=1529;ExcessHet=1.3217;FS=0.603;InbreedingCoeff=-0.0027;MLEAC=20,9;MLEAF=0.476,0.214;MQ=60.00;MQRankSum=0.00;QD=16.26;ReadPosRankSum=1.92;SOR=0.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,29,0:56:99:1|0:175160788_C_CCTT:795,0,941,876,1028,1904:175160788	2	5	6	0
chr1	181651376	181651376	C	G	exonic	CACNA1E	.	stopgain	CACNA1E:NM_000721:exon7:c.C990G:p.Y330X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	5.080	31	3.16	1.233	1.894	10.219	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0015	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	9.176e-05	0	0	0	0	0	0.0002	0.0002	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000152	0.49130	D	0.184301	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.813	0.80964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607496	0.97860	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;Recessive;.;.;.;.	.;.;.;.;High;.;.;.;.	7.541588	0.96621	36	0.99781923951723206	0.86867	0.94030	0.59902	D	AEFDBI	0.321650	0.42439	N	0.624659178573725	0.74736	6.183878	0.466905708948269	0.65809	4.871025	0.999982252266257	0.51787	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.12	3.16	0.35406	1.546000	0.35787	1.050000	0.23629	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8307:0.0:0.1693	10.219	0.42363	702	0.57624	Ion transport domain;.;.;Ion transport domain;Ion transport domain;Ion transport domain;.;Ion transport domain;.	.	.	.	.	.	Pathogenic	1	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	0.25	516.78	82	chr1	181651376	.	C	G	516.78	.	AC=5;AF=0.250;AN=20;BaseQRankSum=-2.592e+00;DP=1988;ExcessHet=1.1607;FS=273.598;InbreedingCoeff=-0.3191;MLEAC=7;MLEAF=0.350;MQ=60.00;MQRankSum=0.00;QD=0.78;ReadPosRankSum=0.266;SOR=10.462	GT:AD:DP:GQ:PL	0/1:114,30:144:3:3,0,1724	5	0	5	11
chr1	186137584	186137584	A	G	exonic	HMCN1	.	nonsynonymous SNV	HMCN1:NM_031935:exon88:c.A13669G:p.N4557D,	.	.	.	.	.	.	.	.	.	.	.	1922197	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.62	T	0.039	B	0.027	B	0.000	N	0.957	D	1.145	L	0.6	T	-1.034	T	0.103	T	0.18	1.841	12.12	4.62	0.970	3.573	9.030	0.059	0.0300111429584	.	.	2.496e-05	9.679e-05	0	0	0	3.02e-05	0	0	2.59e-05	4	154602	rs761861868	4.721e-05	4.72e-05	4.084e-05	5.364e-05	0.0003	3.794e-05	3.476e-05	6.099e-05	4.197e-05	0	0	0	0	0	0.0003	5.756e-05	4.969e-05	0	1.971e-05	1.97e-05	1.284e-05	2.689e-05	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.044	0.41096	D	0.234	0.24840	T	0.039	0.21116	B	0.027	0.21085	B	0.000000	0.84330	N	0.081791	0.957392	0.38022	D	0.335	0.10427	N	0.6	0.53731	T	-1.45	0.35597	N	0.3	0.33904	-1.0341	0.19141	T	0.103	0.38044	T	10	0.22891727	0.39807	T	0.030011	0.52407	D	0.059	0.16972	0.726	0.86024	0.552408913969	0.54898	0.40195081300469293	0.40111	0.293770034353	0.31797	0.440950244665	0.30707	T	.	.	.	-0.292605	0.09376	T	-0.476555	0.24814	T	0.159246265888214	0.17815	T	0.782522	0.41827	T	0.19534008	0.41319	0.13181935	0.31645	0.19534008	0.41319	0.13181935	0.31644	-4.303	0.28219	T	.	.	0.111	0.21541	B	.	.	1.451441	0.18725	13.89	0.9677739181075945	0.31061	0.90656	0.52014	D	AEFDGBI	0.304173	0.41195	N	-0.327053633046254	0.28124	1.548676	-0.167937302110018	0.32724	1.864606	0.0426098166133215	0.14533	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.78	4.62	0.56946	3.568000	0.53564	2.731000	0.34388	0.756000	0.94297	1.000000	0.71638	0.980000	0.30356	0.544000	0.30032	0.794:0.0:0.206:0.0	9.030	0.35414	644	0.63734	.	.	.	.	.	.	Uncertain significance	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	0	0	0.02381	1340.98	37	chr1	186137584	.	A	G	1340.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.600e-01;DP=787;ExcessHet=0.0000;FS=0.831;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.12;ReadPosRankSum=-1.037e+00;SOR=0.876	GT:AD:DP:GQ:PL	0/1:39,56:95:99:1355,0,926	20	0	1	0
chr1	186189681	186189681	A	G	exonic	HMCN1	.	nonsynonymous SNV	HMCN1:NM_031935:exon107:c.A16711G:p.M5571V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.002	B	0.001	B	0.000	D	0.729	N	-0.625	N	0.04	T	-1.071	T	0.098	T	0.321	0.129	4.693	5.91	2.254	4.948	16.348	0.111	0.0152425388681	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1299679218	4.109e-06	4.104e-06	5.449e-06	2.754e-06	4.501e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.501e-06	1.658e-05	0	6.576e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.173	0.22573	T	0.615	0.07568	T	0.002	0.09854	B	0.001	0.04355	B	0.000056	0.53742	D	0.226324	0.729483	0.33703	D	0.55	0.14455	N	0.04	0.62051	T	-0.27	0.11366	N	0.109	0.09490	-1.0707	0.09260	T	0.098	0.36780	T	10	0.15104657	0.28558	T	0.015243	0.35857	T	0.111	0.31313	0.541	0.65304	0.567244179635	0.56389	0.5160585409980083	0.51528	0.183666446996	0.20656	0.434764355421	0.29861	T	.	.	.	-0.0896434	0.38135	T	-0.366543	0.37293	T	0.812659978866577	0.47237	D	0.827217	0.49094	T	0.13251725	0.30853	0.16134395	0.37533	0.13251725	0.30853	0.16134395	0.37532	-1.513	0.01791	T	.	.	0.177	0.38640	B	.	.	2.200413	0.28064	17.67	0.41742298456205973	0.03031	0.88292	0.48154	D	AEFGBI	0.359619	0.44988	N	-0.291911127613913	0.29459	1.633865	-0.0120119162247708	0.39171	2.31854	0.999999998982101	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.662433	0.64102	0	.	.	5.91	5.91	0.95240	4.971000	0.63464	5.469000	0.48692	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	1.0:0.0:0.0:0.0	16.348	0.83004	662	0.61715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1707.98	36	chr1	186189681	.	A	G	1707.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.190e-01;DP=845;ExcessHet=0.0000;FS=6.015;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=0.122;SOR=1.142	GT:AD:DP:GQ:PL	0/1:78,69:147:99:1722,0,2003	20	0	1	0
chr1	197102733	197102733	A	T	exonic	ASPM	.	nonsynonymous SNV	ASPM:NM_018136:exon18:c.T6518A:p.L2173H,	Microcephaly 5, primary, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.97	M	-1.26	T	0.542	D	0.681	D	0.642	3.564	18.17	5.48	2.090	9.215	15.566	0.694	0.285079611783	.	.	8.273e-06	0	0	0	0	1.503e-05	0	0	6.5e-06	1	154602	rs770555029	4.108e-06	4.104e-06	4.087e-06	4.128e-06	2.243e-05	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	2.243e-05	0	0	0	0	4.499e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000010	0.62929	D	0.000000	0.999992	0.81001	D	3.36	0.91202	M	-1.26	0.79176	T	-4.48	0.77965	D	0.678	0.68516	0.542	0.91121	D	0.681	0.88955	D	10	0.84051996	0.83207	D	0.28508	0.90368	D	0.694	0.88913	0.554	0.67133	0.995094538843	0.99504	0.2743158391711732	0.27344	.	.	0.487475693226	0.37089	T	0.575266	0.86003	D	0.216541	0.75448	D	0.0732697	0.75128	D	0.992977440357208	0.83607	D	0.762324	0.38756	T	0.6403575	0.74850	0.6950149	0.82045	0.6403575	0.74851	0.6950149	0.82046	-12.104	0.85354	D	0.6577698216030817	0.73080	0.425	0.60957	A	.	.	4.339971	0.66570	25.0	0.98073797959573961	0.38046	0.98771	0.86641	D	AEFBCI	0.809392	0.73292	D	0.807844251345179	0.86594	8.935812	0.718744506269574	0.83802	8.118441	0.999999999912984	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	5.48	5.48	0.80675	9.253000	0.94694	9.282000	0.79722	0.741000	0.86335	0.996000	0.39380	1.000000	0.68203	0.777000	0.36790	1.0:0.0:0.0:0.0	15.566	0.76031	177	0.93145	IQ motif, EF-hand binding site|IQ motif, EF-hand binding site	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1686.98	117	chr1	197102733	.	A	T	1686.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.917e+00;DP=1822;ExcessHet=0.0000;FS=4.875;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.95;ReadPosRankSum=-3.230e-01;SOR=0.413	GT:AD:DP:GQ:PL	0/1:87,67:154:99:1701,0,2393	20	0	1	0
chr1	204444146	204444146	C	T	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.G2789A:p.C930Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.999	D	0.985	D	0.000	D	0.998	D	1.7	L	0.01	T	-0.652	T	0.334	T	0.955	4.229	22.0	5.98	2.837	2.643	14.830	0.336	0.0395205411741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	1.368e-06	1.362e-06	0	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.051	0.49390	T	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.997849	0.44246	D	2.33	0.66821	M	0.01	0.62459	T	-4.37	0.77061	D	0.851	0.84817	-0.6521	0.62622	T	0.334	0.70101	T	10	0.7551726	0.75928	D	0.039521	0.58854	D	0.336	0.65816	0.312	0.28612	0.731197027204	0.72880	0.44362017305618334	0.44280	1.35405607476	0.84143	0.879551887512	0.93900	D	0.617515	0.87964	D	0.289904	0.82147	D	0.17865	0.81918	D	0.956505954265594	0.64774	D	0.920508	0.71260	D	0.453303	0.64250	0.49103993	0.70556	0.453303	0.64251	0.49103993	0.70557	-10.862	0.78895	D	.	.	0.601	0.79505	P	.;.	.;.	4.755519	0.76829	26.6	0.9976745670120315	0.85583	0.90357	0.51468	D	ALL	0.660412	0.63099	D	0.458512160282776	0.64688	4.728999	0.511871425671665	0.68789	5.26863	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	2.703000	0.46778	7.616000	0.62106	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.144:0.856:0.0:0.0	14.830	0.69772	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2619	2825.06	151	chr1	204444146	.	C	T	2825.06	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-4.450e+00;DP=2570;ExcessHet=7.7275;FS=223.489;InbreedingCoeff=-0.3719;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=1.73;ReadPosRankSum=1.35;SOR=12.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,38:160:99:0|1:204444146_C_T:363,0,3872:204444146	10	0	11	0
chr1	204444147	204444147	A	G	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.T2788C:p.C930R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.999	D	0.985	D	0.000	D	1.000	D	1.005	L	0.14	T	-0.723	T	0.246	T	0.971	3.959	20.3	5.98	2.288	3.844	10.472	0.372	0.0699442069728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.034	0.53788	D	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.83	0.20963	L	0.14	0.60854	T	-5.22	0.83830	D	0.861	0.86191	-0.7225	0.59339	T	0.246	0.61530	T	10	0.6625425	0.70238	D	0.069944	0.70868	D	0.372	0.69102	0.335	0.32329	0.796189045978	0.79428	0.5671153260514122	0.56639	1.38482303822	0.84866	0.874912202358	0.93263	D	0.60522	0.87406	D	0.279203	0.81249	D	0.163279	0.81006	D	0.975287973880768	0.70867	D	0.739426	0.52772	T	0.74623775	0.80650	0.7226829	0.83623	0.74623775	0.80652	0.7226829	0.83624	-7.62	0.58450	D	.	.	0.819	0.87226	P	.;.	.;.	4.639661	0.73847	26.1	0.99796849897327999	0.88194	0.90532	0.51786	D	ALL	0.673803	0.63974	D	0.263763222116594	0.54323	3.598145	0.384514743775906	0.60611	4.250483	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	3.831000	0.55477	11.132000	0.86827	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.9272:0.0:0.0728:0.0	10.472	0.43830	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2	1053.66	151	chr1	204444147	.	A	G	1053.66	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-4.399e+00;DP=2661;ExcessHet=3.5521;FS=172.132;InbreedingCoeff=-0.2533;MLEAC=8;MLEAF=0.200;MQ=60.00;MQRankSum=0.00;QD=0.89;ReadPosRankSum=1.46;SOR=11.360	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,38:160:99:0|1:204444146_C_T:363,0,3872:204444146	12	0	8	1
chr1	207027530	207027530	-	T	exonic	C1orf116	.	frameshift insertion	C1orf116:NM_023938:exon2:c.68dupA:p.D23Efs*14,	.	.	399	1119	3	1	0	5	0.00222916	.	.	2816014	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0062	0.00319489	0.0054	0.0012	0.0016	0	0.0073	0.0083	0.0044	0.0012	0.00073	19	26028	rs201900436	0.0076	0.0076	0.0080	0.0072	0.0090	0.0075	0.0074	0.0089	0.0088	0.0011	0.0021	0.0012	0	0.0070	0.0021	0.0090	0.0068	0.0012	0.0059	0.0059	0.0063	0.0055	0.0090	0.0056	0.0055	0.0084	0.0082	0.0018	0	0.0076	0.0012	0	0.0075	0.0068	0.0090	0.0052	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1149.94	34	chr1	207027530	.	G	GT	1149.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.764;DP=789;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.36;ReadPosRankSum=-9.310e-01;SOR=0.671	GT:AD:DP:GQ:PL	0/1:54,39:93:99:1164,0,1743	20	0	1	0
chr1	209839092	209839092	G	A	exonic	UTP25	.	nonsynonymous SNV	UTP25:NM_014388:exon7:c.G1246A:p.V416I,	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.504	P	0.102	B	0.000	D	0.999	D	0.215	N	0.99	T	-1.087	T	0.032	T	0.14	2.804	15.34	5.95	2.824	3.683	18.574	0.095	.	0.0002	0.00339457	0.0018	0	0.0009	0.0202	0.0006	0.0003	0.0033	0.0002	0.0016171	250	154602	rs41275346	0.0006	0.0006	0.0006	0.0006	0.0151	0.0006	0.0005	0.0141	0.0137	0.0002	0.0004	0.0006	0.0151	0.0003	0.0002	0.0001	0.0009	0.0003	0.0008	0.0008	0.0007	0.0009	0.0189	0.0007	0.0007	0.0159	0.0147	0	0	0.0005	0.0003	0.0189	0	0	0.0003	0	0.0006	0.19	0.21144	T	0.687	0.05976	T	.	.	.	.	.	.	0.000021	0.55875	D	0.121050	0.999277	0.46519	D	.	.	.	0.99	0.41750	T	-0.39	0.13611	N	0.29	0.32812	-1.0865	0.06138	T	0.032	0.13898	T	10	0.018363178	0.00399	T	.	.	.	0.095	0.27398	.	.	0.490352026379	0.48669	0.43674360699693043	0.43591	0.105508220992	0.11931	0.550137102604	0.45877	T	.	.	.	-0.555554	0.00270	T	-0.551867	0.17146	T	0.0218508275608121	0.00892	T	0.884412	0.60756	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.04975	B	.	.	2.627935	0.34164	19.55	0.99584133588421653	0.73218	0.84244	0.43327	D	AEFBCI	0.164632	0.29104	N	-0.0067838260700968	0.41548	2.487116	0.177368100835567	0.48609	3.074582	0.9999997822555	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	5.95	5.95	0.96415	3.762000	0.54962	7.508000	0.59580	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.806000	0.37994	0.0:0.0:1.0:0.0	18.574	0.91102	884	0.28482	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2042.98	35	chr1	209839092	.	G	A	2042.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.96;DP=894;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.80;ReadPosRankSum=1.44;SOR=0.662	GT:AD:DP:GQ:PL	0/1:63,75:138:99:2057,0,1422	20	0	1	0
chr1	212387013	212387013	T	C	exonic	PACC1	.	nonsynonymous SNV	PACC1:NM_001377480:exon3:c.A221G:p.Y74C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	1.04	L	.	.	-0.475	T	0.282	T	0.935	4.550	24.6	4.94	1.983	7.673	14.898	0.718	0.0476488825316	.	.	3.296e-05	0	0.0002	0	0	2.998e-05	0	0	2.59e-05	4	154602	rs771847878	3.625e-05	3.625e-05	3.267e-05	3.988e-05	6.708e-05	2.828e-05	2.565e-05	3.343e-05	2.956e-05	0	6.708e-05	0	0	0	0	4.317e-05	3.311e-05	0	4.603e-05	4.598e-05	6.426e-05	2.693e-05	6.545e-05	2.111e-05	1.528e-05	1.972e-05	1.125e-05	0	0	6.545e-05	0	0	0	0	5.881e-05	0.0010	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.135	0.59519	M	.	.	.	-8.94	0.97981	D	0.955	0.97317	-0.4749	0.69552	T	0.282	0.65389	T	9	0.78695416	0.78329	D	0.047649	0.63015	D	0.718	0.90011	0.462	0.53079	0.171388866994	0.16791	0.7450011626884397	0.74446	0.902985264539	0.70709	0.878340005875	0.93736	D	0.279372	0.65205	T	0.330793	0.85216	D	0.434356	0.93168	D	0.965036511421204	0.67142	D	0.944006	0.78847	D	0.93361145	0.94599	0.8554387	0.91870	0.93361145	0.94599	0.8554387	0.91871	-3.734	0.19821	T	.	.	0.456	0.71010	A	.;.	.;.	5.221820	0.87644	29.3	0.99849823349692157	0.92925	0.98582	0.84349	D	AEFDGBI	0.906322	0.85896	D	0.633954781649986	0.75333	6.287598	0.63866620125095	0.77768	6.743632	0.999999313445537	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.94	4.94	0.64645	7.627000	0.82366	7.846000	0.70742	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.898	0.70296	811	0.42639	.;.	.	.	.	.	.	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	0.02381	1632.98	33	chr1	212387013	.	T	C	1632.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.32;DP=816;ExcessHet=0.0000;FS=3.403;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=-6.910e-01;SOR=0.437	GT:AD:DP:GQ:PL	0/1:54,65:119:99:1647,0,1229	20	0	1	0
chr1	213129835	213129835	G	A	exonic	RPS6KC1	.	nonsynonymous SNV	RPS6KC1:NM_001136138:exon5:c.G745A:p.A249T	.	.	430	1077	15	0	0	15	0.00691563	.	.	1066738	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.15	T	0.58	P	0.151	B	0.000	D	1.000	D	1.07	L	-0.61	T	-0.787	T	0.189	T	0.238	2.962	15.88	5.54	2.605	2.541	8.278	0.102	0.0222216880896	0.0015	0.00119808	0.0012	0.0002	0.0007	0	0.0002	0.0014	0.0033	0.0021	0.001119	173	154602	rs147945661	0.0015	0.0015	0.0014	0.0016	0.0164	0.0015	0.0014	0.0137	0.0127	0.0012	0.0013	0.0008	0	0.0002	0.0164	0.0015	0.0020	0.0023	0.0011	0.0011	0.0011	0.0012	0.0025	0.0010	0.0010	0.0014	0.0013	0.0003	0	0.0018	0.0009	0	0.0006	0	0.0016	0.0005	0.0025	0.109	0.29288	T	0.105	0.38016	T	0.58	0.38813	P	0.098	0.34210	B	0.000004	0.62929	D	0.061479	0.985479	0.81001	D	2.195	0.61839	M	-0.61	0.71779	T	-2.1	0.51157	N	0.248	0.36464	-0.7871	0.55898	T	0.189	0.54064	T	10	0.012542695	0.00269	T	0.022222	0.45086	T	0.102	0.29158	.	.	0.748983866323	0.74672	0.12353733367379002	0.12279	0.149293114294	0.16836	0.398760795593	0.24896	T	0.081853	0.36694	T	-0.367592	0.03718	T	-0.306345	0.44051	T	0.0202358216047287	0.00723	T	0.877312	0.59062	D	0.13537733	0.31420	0.2021305	0.44226	0.13148084	0.30645	0.23356181	0.48547	-7.872	0.60194	D	.	.	0.093	0.22717	B	.;.;.;.;.	.;.;.;.;.	3.192312	0.43374	21.7	0.99751178859942069	0.84305	0.89310	0.49697	D	AEFBI	0.223166	0.34756	N	0.113338170110566	0.47084	2.939161	0.266390792853388	0.53586	3.526939	0.998890240643501	0.37915	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	5.54	5.54	0.82907	2.626000	0.46126	9.945000	0.82685	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0832:0.0:0.7599:0.1568	8.278	0.31043	814	0.42100	MIT|MIT;MIT|MIT;MIT|MIT;MIT|MIT;.	.	.	.	.	.	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	0.02381	770.98	35	chr1	213129835	.	G	A	770.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.347;DP=772;ExcessHet=0.0000;FS=1.943;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.42;ReadPosRankSum=1.11;SOR=0.994	GT:AD:DP:GQ:PL	0/1:42,32:74:99:785,0,1051	20	0	1	0
chr1	216046516	216046516	C	A	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_206933:exon32:c.G6240T:p.K2080N,	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	YES	1	1498	23	0	0	23	0.00761842	.	.	57717	not_specified|Retinitis_pigmentosa_39|not_provided|Retinitis_pigmentosa|Usher_syndrome_type_2A	MedGen:CN169374|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809,Orphanet:791|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.3	T	0.883	P	0.299	B	0.157	N	1.000	N	1.89	L	0.64	T	-1.028	T	0.078	T	0.056	1.808	12.00	0.708	-0.059	0.421	8.903	0.107	.	0.0100	0.00399361	0.0059	0.0106	0.0048	0	0.0030	0.0078	0.0066	0.0006	0.0062095	960	154602	rs114402911	0.0070	0.0070	0.0072	0.0068	0.0097	0.0069	0.0068	0.0089	0.0085	0.0097	0.0048	0.0074	0	0.0020	0.0068	0.0080	0.0067	0.0009	0.0073	0.0073	0.0075	0.0071	0.0095	0.0069	0.0068	0.0087	0.0084	0.0095	0	0.0095	0.0075	0	0.0018	0.0272	0.0073	0.0080	0.0004	0.041	0.41915	D	0.013	0.63109	D	0.883	0.48537	P	0.299	0.41006	B	0.157149	0.17778	N	0.464297	0.976066	0.25396	N	1.765	0.45800	L	0.64	0.52867	T	-1.6	0.38540	N	0.087	0.06454	-1.0276	0.21233	T	0.078	0.31103	T	10	0.008006275	0.00182	T	.	.	.	0.107	0.30369	0.473	0.54859	0.871063477412	0.86980	0.4193150408643054	0.41847	0.0456341534263	0.04953	0.268486261368	0.05945	T	0.066692	0.33011	T	-0.601815	0.00142	T	-0.624269	0.10853	T	0.0247992906463363	0.01247	T	0.632737	0.24712	T	0.11614702	0.27398	0.096927784	0.23050	0.11614702	0.27398	0.096927784	0.23049	-3.633	0.18335	T	0.2511460964332233	0.33986	0.220	0.45024	B	.	.	1.287203	0.16875	12.82	0.98589201794234105	0.43349	0.68701	0.33902	D	AEFDBIJ	0.147190	0.27080	N	-0.214522887373214	0.32537	1.836038	-0.213457198696788	0.31051	1.753796	0.989790624125851	0.31938	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.58	0.708	0.17301	0.412000	0.20852	-0.198000	0.10972	-0.181000	0.10308	1.000000	0.71638	0.000000	0.08366	0.990000	0.65344	0.0:0.2963:0.0:0.7037	8.903	0.34663	812	0.42537	Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	875.98	46	chr1	216046516	.	C	A	875.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.150e-01;DP=868;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.55;ReadPosRankSum=0.739;SOR=0.656	GT:AD:DP:GQ:PL	0/1:44,39:83:99:890,0,1087	20	0	1	0
chr1	220154029	220154029	G	C	exonic	RAB3GAP2	.	nonsynonymous SNV	RAB3GAP2:NM_012414:exon32:c.C3584G:p.T1195S,	Martsolf syndrome, Autosomal recessive;Warburg micro syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.918	P	0.243	B	0.000	D	0.990	D	0.83	L	1.55	T	-1.120	T	0.056	T	0.262	3.544	18.08	5.73	2.861	6.815	20.260	0.141	0.00874835817134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	5.199e-05	1.363e-06	0	9.003e-07	0	0	.	.	0	0	0	0	0	0	9.003e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.21066	T	0.709	0.05544	T	0.918	0.50838	P	0.243	0.38752	B	0.000001	0.62929	D	0.097802	0.989506	0.40966	D	1.965	0.53209	M	1.55	0.29866	T	-1.19	0.30346	N	0.147	0.14905	-1.1200	0.02331	T	0.056	0.23715	T	10	0.2658563	0.44086	T	0.008748	0.23099	T	0.141	0.37795	0.358	0.36060	0.223474106383	0.21959	0.16981700195601018	0.16901	0.592570687533	0.54640	0.739543437958	0.72906	T	0.027942	0.20352	T	-0.137119	0.30348	T	-0.434738	0.29399	T	0.899769723415375	0.55214	D	0.762924	0.38892	T	0.1383725	0.32004	0.21677402	0.46317	0.1383725	0.32004	0.21677402	0.46316	-2.787	0.08064	T	0.07926114128440298	0.03886	0.096	0.15475	B	.	.	3.368266	0.46533	22.3	0.99285218365232031	0.58043	0.98279	0.81205	D	AEFBI	0.720452	0.67101	D	0.402651685043986	0.61569	4.359683	0.526830799331264	0.69803	5.412558	0.999690459879266	0.41870	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.73	5.73	0.89730	6.424000	0.73282	11.862000	0.98348	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.260	0.98443	533	0.73433	Rab3GAP regulatory subunit, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2619	372.12	113	chr1	220154029	.	G	C	372.12	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-2.626e+00;DP=1942;ExcessHet=7.7275;FS=214.208;InbreedingCoeff=-0.3437;MLEAC=10;MLEAF=0.238;MQ=60.00;MQRankSum=0.00;QD=0.39;ReadPosRankSum=-8.540e-01;SOR=12.523	GT:AD:DP:GQ:PL	0/1:57,26:90:68:68,0,876	10	0	11	0
chr1	223665609	223665609	G	A	exonic	CAPN8	.	nonsynonymous SNV	CAPN8:NM_001143962:exon1:c.C38T:p.A13V,	.	.	423	1092	7	0	0	7	0.00319489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.666	P	0.186	B	0.499	U	1.000	N	2.15	M	2.45	T	-1.006	T	0.048	T	0.111	1.794	11.96	3.87	1.424	1.730	8.236	0.063	0.0112141031479	0.0002	.	0.0003	0.0005	0.0025	0	0	0.0001	0	0.0005	6.47e-05	10	154602	rs372891276	0.0002	0.0001	0.0001	0.0002	0.0018	0.0001	0.0001	0.0010	0.0007	0	5.602e-05	0	0	0	0.0018	0.0001	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	7.218e-05	0	6.532e-05	0	0	0	0.0068	0.0003	0.0014	0	0.915	0.11696	T	0.288	0.21144	T	0.666	0.41077	P	0.186	0.36104	B	0.499110	0.05081	U	1.477350	1	0.08975	N	2.6	0.76081	M	2.45	0.15028	T	-1.48	0.40082	N	0.096	0.09207	-1.0057	0.28247	T	0.048	0.20672	T	10	0.021810472	0.00530	T	0.011214	0.28600	T	0.063	0.18251	.	.	0.292423486923	0.28857	0.4798066508202455	0.47900	0.00246300865135	0.00212	0.375164568424	0.21570	T	0.117381	0.43742	T	-0.507719	0.00517	T	-0.650923	0.08890	T	0.0388365992808321	0.03480	T	0.651335	0.26216	T	0.03597037	0.04335	0.072497636	0.15646	0.03597037	0.04334	0.072497636	0.15646	-6.375	0.49314	T	.	.	0.109	0.23570	B	.;.;.	.;.;.	2.361856	0.30291	18.39	0.97883581956091992	0.36621	0.23668	0.22150	N	AEFGBHCI	0.149555	0.27367	N	-0.396177415221838	0.25604	1.391173	-0.475952552617177	0.22818	1.241271	0.999999481451581	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.75	3.87	0.43823	2.902000	0.48401	1.760000	0.28546	0.654000	0.53741	0.984000	0.35821	0.069000	0.22184	0.002000	0.04165	0.1392:0.0:0.7344:0.1264	8.236	0.30787	906	0.23090	.;.;.	.	.	.	.	.	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	0.02381	1097.98	36	chr1	223665609	.	G	A	1097.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.200e-02;DP=792;ExcessHet=0.0000;FS=1.884;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.90;ReadPosRankSum=-3.780e-01;SOR=0.446	GT:AD:DP:GQ:PL	0/1:37,42:79:99:1112,0,899	20	0	1	0
chr1	224434204	224434204	-	GGAGGAGGA	exonic	WDR26	.	nonframeshift insertion	WDR26:NM_001379403:exon1:c.201_202insTCCTCCTCC:p.S67_V68insSSS,	.	.	.	.	.	.	.	.	.	.	.	2816080	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs144531645	0.0027	0.0024	0.0027	0.0027	0.0043	0.0026	0.0026	0.0038	0.0037	0.0008	0.0018	0.0046	0.0001	0.0012	0.0025	0.0028	0.0026	0.0043	0.0019	0.0019	0.0020	0.0018	0.0047	0.0017	0.0017	0.0032	0.0027	0.0008	0	0.0021	0.0041	0	0.0018	0	0.0025	0.0005	0.0047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	5424.84	16	chr1	224434204	.	C	CGGA,CGGAGGAGGA	5424.84	.	AC=12,1;AF=0.286,0.024;AN=42;BaseQRankSum=0.270;DP=500;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4485;MLEAC=12,1;MLEAF=0.286,0.024;MQ=60.00;MQRankSum=0.00;QD=18.97;ReadPosRankSum=-1.880e-01;SOR=0.714	GT:AD:DP:GQ:PL	0/1:7,6,0:13:99:231,0,276,252,294,546	8	0	12	0
chr1	225353860	225353860	A	G	exonic	DNAH14	.	nonsynonymous SNV	DNAH14:NM_001367479:exon73:c.A11591G:p.K3864R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.112	B	0.061	B	.	.	1.000	D	.	.	3.13	T	-0.960	T	0.017	T	0.139	2.173	13.22	4.96	1.975	1.458	12.415	0.042	0.0424221383888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0016	0.0003	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	6.329e-05	0	0.0004	0.0005	0	0.0003	0.0002	6.899e-05	0	2.638e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.304	0.14303	T	0.086	0.40909	T	0.112	0.26290	B	0.061	0.26820	B	.	.	.	.	1	0.81001	D	.	.	.	3.13	0.08014	T	-1.32	0.32991	N	0.141	0.17140	-0.9601	0.39162	T	0.017	0.06759	T	8	0.075534165	0.11687	T	0.042422	0.60457	D	0.042	0.11227	0.473	0.54859	0.233150807113	0.22925	.	.	.	.	0.547701478004	0.45533	T	.	.	.	-0.290318	0.09604	T	-0.654798	0.08622	T	0.429603158532435	0.30046	T	0.441056	0.12198	T	.	.	.	.	.	.	.	.	-5.073	0.37622	T	.	.	.	.	.	.;.	.;.	2.621798	0.34075	19.52	0.98831738548241499	0.46969	0.78159	0.38520	D	AEFI	0.292450	0.40332	N	-0.1412954714505	0.35606	2.047334	0.0119223341972131	0.40267	2.400417	0.496201815749716	0.20905	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.96	4.96	0.65153	1.434000	0.34567	3.589000	0.39183	0.709000	0.85303	0.997000	0.40164	0.992000	0.31684	0.992000	0.67800	1.0:0.0:0.0:0.0	12.415	0.54820	620	0.66037	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1842	916.48	81	chr1	225353860	.	AAC	GAC,A,*	916.48	.	AC=5,1,1;AF=0.132,0.026,0.026;AN=38;BaseQRankSum=-2.713e+00;DP=1152;ExcessHet=2.7391;FS=184.885;InbreedingCoeff=-0.1515;MLEAC=5,1,1;MLEAF=0.132,0.026,0.026;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=1.93;SOR=9.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,19,0,0:75:18:0|1:225353860_A_G:18,0,1530,184,1580,1764,184,1580,1764,1764:225353860	12	0	5	2
chr1	225353861	225353862	AC	-	exonic	DNAH14	.	frameshift deletion	DNAH14:NM_001367479:exon73:c.11592_11593del:p.K3864Nfs*14,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	916.48	81	chr1	225353860	.	AAC	GAC,A,*	916.48	.	AC=5,1,1;AF=0.132,0.026,0.026;AN=38;BaseQRankSum=-2.713e+00;DP=1152;ExcessHet=2.7391;FS=184.885;InbreedingCoeff=-0.1515;MLEAC=5,1,1;MLEAF=0.132,0.026,0.026;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=1.93;SOR=9.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,19,0,0:75:18:0|1:225353860_A_G:18,0,1530,184,1580,1764,184,1580,1764,1764:225353860	12	0	5	2
chr1	225353860	225353862	AAC	0	exonic	DNAH14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	916.48	81	chr1	225353860	.	AAC	GAC,A,*	916.48	.	AC=5,1,1;AF=0.132,0.026,0.026;AN=38;BaseQRankSum=-2.713e+00;DP=1152;ExcessHet=2.7391;FS=184.885;InbreedingCoeff=-0.1515;MLEAC=5,1,1;MLEAF=0.132,0.026,0.026;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=1.93;SOR=9.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,19,0,0:75:18:0|1:225353860_A_G:18,0,1530,184,1580,1764,184,1580,1764,1764:225353860	12	0	5	2
chr1	225353862	225353862	C	G	exonic	DNAH14	.	nonsynonymous SNV	DNAH14:NM_001367479:exon73:c.C11593G:p.L3865V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.998	D	0.987	D	.	.	1.000	D	.	.	3.07	T	-1.168	T	0.067	T	0.206	3.493	17.86	4.96	2.441	4.553	15.452	0.169	0.184522215149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.495e-06	2.815e-05	1.481e-06	1.51e-06	1.943e-06	2.5e-07	9e-08	3.2e-07	1.2e-07	0	0	0	0	0	0	1.943e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.007	0.69154	D	0.998	0.73220	D	0.987	0.77487	D	.	.	.	.	1	0.81001	D	.	.	.	3.07	0.08547	T	-2.09	0.47683	N	0.478	0.51315	-1.1684	0.00571	T	0.067	0.27674	T	8	0.42786682	0.57295	T	0.184522	0.85755	D	0.169	0.43123	0.464	0.53404	0.539206206136	0.53571	.	.	.	.	0.575304269791	0.49425	T	.	.	.	-0.225988	0.17183	T	-0.562392	0.16153	T	0.954804537863371	0.64353	D	0.537746	0.18100	T	.	.	.	.	.	.	.	.	-5.635	0.43111	T	.	.	.	.	.	.;.	.;.	3.753409	0.53817	23.4	0.99763407953241845	0.85254	0.92830	0.56650	D	AEFI	0.645686	0.62149	D	0.612402131367579	0.73959	6.051873	0.603151193080595	0.75167	6.263177	0.909202901970934	0.26305	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.96	4.96	0.65153	4.575000	0.60619	4.515000	0.43664	0.563000	0.28513	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	15.452	0.75010	620	0.66037	.;.	.	.	.	.	.	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	0.2	1666.88	81	chr1	225353862	.	C	G,CGGGG,*	1666.88	.	AC=5,2,1;AF=0.125,0.050,0.025;AN=40;BaseQRankSum=-1.746e+00;DP=1146;ExcessHet=3.5521;FS=219.813;InbreedingCoeff=-0.2595;MLEAC=5,2,1;MLEAF=0.125,0.050,0.025;MQ=60.00;MQRankSum=0.00;QD=2.59;ReadPosRankSum=1.17;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,19,0,0:75:18:0|1:225353860_A_G:18,0,1530,184,1580,1764,184,1580,1764,1764:225353860	12	0	5	1
chr1	225353862	225353862	-	GGGG	exonic	DNAH14	.	frameshift insertion	DNAH14:NM_001367479:exon73:c.11593_11594insGGGG:p.L3865Rfs*15,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1666.88	81	chr1	225353862	.	C	G,CGGGG,*	1666.88	.	AC=5,2,1;AF=0.125,0.050,0.025;AN=40;BaseQRankSum=-1.746e+00;DP=1146;ExcessHet=3.5521;FS=219.813;InbreedingCoeff=-0.2595;MLEAC=5,2,1;MLEAF=0.125,0.050,0.025;MQ=60.00;MQRankSum=0.00;QD=2.59;ReadPosRankSum=1.17;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,19,0,0:75:18:0|1:225353860_A_G:18,0,1530,184,1580,1764,184,1580,1764,1764:225353860	12	0	5	1
chr1	225353862	225353862	C	0	exonic	DNAH14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1666.88	81	chr1	225353862	.	C	G,CGGGG,*	1666.88	.	AC=5,2,1;AF=0.125,0.050,0.025;AN=40;BaseQRankSum=-1.746e+00;DP=1146;ExcessHet=3.5521;FS=219.813;InbreedingCoeff=-0.2595;MLEAC=5,2,1;MLEAF=0.125,0.050,0.025;MQ=60.00;MQRankSum=0.00;QD=2.59;ReadPosRankSum=1.17;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,19,0,0:75:18:0|1:225353860_A_G:18,0,1530,184,1580,1764,184,1580,1764,1764:225353860	12	0	5	1
chr1	225514708	225514708	G	A	exonic	ENAH	.	nonsynonymous SNV	ENAH:NM_001377483:exon6:c.C995T:p.A332V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.997	D	0.97	D	0.003	N	1.000	D	1.995	M	1.96	T	0.348	D	0.643	D	0.677	4.366	23.0	5.21	2.430	8.082	18.735	0.233	0.112320486811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.797e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.048	0.50514	D	0.997	0.70673	D	0.97	0.72226	D	0.003271	0.35183	N	0.226742	0.999596	0.58761	D	2.275	0.64647	M	-0.04	0.63240	T	-1.67	0.39887	N	0.63	0.64393	0.348	0.88309	D	0.643	0.87528	D	10	0.4695522	0.59778	T	0.11232	0.79042	D	0.233	0.53499	0.104	0.01698	0.612357999405	0.60923	0.16674359625552354	0.16594	0.92458102789	0.71591	0.674778223038	0.63520	T	0.277514	0.65013	T	0.133822	0.67732	D	-0.0455502	0.67325	D	0.946237564086914	0.62427	D	0.848015	0.53747	T	0.17252353	0.37948	0.16418302	0.38047	0.17252353	0.37948	0.16418302	0.38046	-10.699	0.78566	D	.	.	0.227	0.48510	B	.;.;.	.;.;.	4.298915	0.65622	24.9	0.99888774019022097	0.96359	0.99573	0.97585	D	AEFDBI	0.882683	0.81099	D	0.729987147899231	0.81600	7.559994	0.719044094803892	0.83827	8.124527	0.999999999997317	0.74766	0.651	0.46895	0	0.59043	0.45803	0	0.693117	0.63056	0	0.683762	0.67416	0	.	.	5.21	5.21	0.72005	8.455000	0.90207	11.320000	0.92525	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.735	0.91713	679	0.60090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4118	1135.81	96	chr1	225514708	.	G	A,C	1135.81	.	AC=12,2;AF=0.353,0.059;AN=34;BaseQRankSum=-2.271e+00;DP=1826;ExcessHet=14.4320;FS=241.820;InbreedingCoeff=-0.6100;MLEAC=13,2;MLEAF=0.382,0.059;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=0.733;SOR=12.218	GT:AD:DP:GQ:PL	0/2:55,0,19:74:19:19,169,1051,0,882,832	3	0	12	4
chr1	225514708	225514708	G	C	exonic	ENAH	.	nonsynonymous SNV	ENAH:NM_001377483:exon6:c.C995G:p.A332G	.	.	425	1069	28	0	0	28	0.0129271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.994	D	0.97	D	0.003	N	1.000	D	2.545	M	1.97	T	0.305	D	0.679	D	0.661	4.523	24.4	5.21	2.430	8.082	18.735	0.251	0.134379640135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0006	0.0002	0.0001	0.0002	0.0002	0.0001	0.0002	0.0002	9.689e-05	2.258e-05	3.953e-05	2.59e-05	0	0	0.0002	0.0001	7.146e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.183	0.39340	T	0.994	0.66517	D	0.97	0.72226	D	0.003271	0.35183	N	0.226742	0.999496	0.58761	D	2.62	0.76659	M	-0.04	0.63240	T	-1.88	0.43906	N	0.603	0.62950	0.305	0.87637	D	0.679	0.88907	D	10	0.44018695	0.58051	T	0.13438	0.81681	D	0.251	0.56024	0.122	0.02867	0.652436559791	0.64954	0.11579549220610402	0.11507	0.929717523318	0.71774	0.644413113594	0.59191	T	0.218669	0.58146	T	0.124294	0.66801	D	-0.0592364	0.66386	T	0.932058036327362	0.59784	D	0.871513	0.63166	D	0.18916725	0.40447	0.18597509	0.41743	0.18916725	0.40446	0.18597509	0.41742	-9.88	0.74330	D	.	.	0.252	0.51900	B	.;.;.	.;.;.	4.037834	0.59751	24.1	0.99785765454140729	0.87219	0.99631	0.98164	D	AEFDBI	0.890935	0.82643	D	0.742122182897517	0.82390	7.750937	0.716777429846324	0.83653	8.078442	0.999999999997317	0.74766	0.651	0.46895	0	0.59043	0.45803	0	0.693117	0.63056	0	0.683762	0.67416	0	.	.	5.21	5.21	0.72005	8.455000	0.90207	11.320000	0.92525	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.735	0.91713	679	0.60090	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4118	1135.81	96	chr1	225514708	.	G	A,C	1135.81	.	AC=12,2;AF=0.353,0.059;AN=34;BaseQRankSum=-2.271e+00;DP=1826;ExcessHet=14.4320;FS=241.820;InbreedingCoeff=-0.6100;MLEAC=13,2;MLEAF=0.382,0.059;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=0.733;SOR=12.218	GT:AD:DP:GQ:PL	0/2:55,0,19:74:19:19,169,1051,0,882,832	3	0	12	4
chr1	226224000	226224000	C	T	exonic	MIXL1	.	nonsynonymous SNV	MIXL1:NM_001282402:exon1:c.C319T:p.R107W	.	.	425	1090	7	0	0	7	0.00320073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.862	P	0.015	N	0.973	N	2.24	M	-4.01	D	0.572	D	0.895	D	0.344	4.684	25.9	3.49	0.810	0.439	7.659	0.434	0.900933789567	.	.	0.0005	0	0.0001	0	0	0.0001	0.0021	0.0034	0.0003169	49	154602	rs747957426	0.0001	0.0002	6.704e-05	0.0002	0.0022	0.0001	0.0001	0.0019	0.0018	0	0	0	0	0	0.0012	2.354e-05	0.0002	0.0022	0.0001	0.0001	3.854e-05	0.0002	0.0027	7.572e-05	6.277e-05	0.0016	0.0013	0	0	0	0	0	0	0	5.881e-05	0.0005	0.0027	0.0	0.91255	D	0.004	0.74150	D	0.999	0.77913	D	0.862	0.61339	P	0.015159	0.28328	N	0.162599	0.972506	0.25597	N	3.56	0.93364	H	-4.01	0.96370	D	-5.3	0.84387	D	0.246	0.27792	0.572	0.91525	D	0.895	0.96515	D	10	0.07919586	0.12713	T	0.900934	0.99254	D	0.434	0.73951	.	.	0.925843201027	0.92508	0.6495239504867414	0.64888	1.40033982347	0.85192	0.727372169495	0.71122	T	0.95503	0.99378	D	-0.140905	0.29747	T	0.0180389	0.71503	D	0.258953778893937	0.23269	T	0.981802	0.93846	D	0.51876456	0.68188	0.63856864	0.78891	0.51876456	0.68189	0.63856864	0.78891	-7.526	0.57989	D	.	.	0.289	0.55842	B	.;.	.;.	4.304694	0.65759	24.9	0.9988251408110469	0.95813	0.52309	0.29101	D	ALL	0.431960	0.49403	N	0.235035163945215	0.52902	3.461771	0.123175580427114	0.45737	2.831576	0.999999997742531	0.74766	0.443343	0.08805	1	0.552344	0.17405	0	0.666236	0.60216	0	0.554799	0.18163	0	.	.	4.42	3.49	0.39065	-0.140000	0.10323	-0.080000	0.12189	0.597000	0.34315	0.000000	0.06391	0.004000	0.18990	0.987000	0.62547	0.1747:0.6282:0.197:0.0	7.659	0.27559	610	0.67008	.;Homeobox domain|Homeobox domain|Homeobox domain|Homeobox domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1885.98	33	chr1	226224000	.	C	T	1885.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.744;DP=897;ExcessHet=0.0000;FS=2.658;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.48;ReadPosRankSum=2.25;SOR=0.498	GT:AD:DP:GQ:PL	0/1:96,84:180:99:1900,0,2230	20	0	1	0
chr1	228148724	228148724	G	A	exonic	GUK1	.	nonsynonymous SNV	GUK1:NM_001242840:exon7:c.G598A:p.G200R,	.	.	425	1077	20	0	0	20	0.00919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	0	N	1.33	T	-0.999	T	0.048	T	0.044	-0.382	2.204	-2.32	-0.872	0.261	8.373	0.029	0.00160157774497	.	0.000998403	0.0017	0.0001	0.0006	0	0.0002	0.0006	0.0034	0.0096	0.0013648	211	154602	rs72756242	0.0012	0.0012	0.0009	0.0015	0.0091	0.0011	0.0011	0.0085	0.0083	5.975e-05	0.0008	0.0009	0	0.0005	0.0042	0.0007	0.0011	0.0091	0.0006	0.0006	0.0005	0.0007	0.0064	0.0005	0.0005	0.0046	0.0040	7.215e-05	0	0.0003	0.0012	0.0002	0.0004	0	0.0006	0.0005	0.0064	0.008	0.58626	D	0.288	0.92824	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	0.76	0.02007	N	0.114	0.10198	-0.9993	0.30115	T	0.048	0.20355	T	6	0.0038777292	0.00073	T	0.001602	0.02574	T	0.035	0.08770	0.246	0.18139	0.159798565429	0.15598	0.6236756774860084	0.62300	0.351213491318	0.36967	0.215331941843	0.01058	T	0.00624	0.05676	T	-0.482266	0.00717	T	-0.458695	0.26743	T	0.0203556797957862	0.00735	T	0.450755	0.12737	T	.	.	.	.	.	.	.	.	-3.794	0.20715	T	.	.	0.113	0.22135	B	.;.	.;.	0.897310	0.12713	9.232	0.50664977611908646	0.04424	0.10357	0.15886	N	AEFDGBCI	0.328099	0.42887	N	-1.30896307039602	0.03572	0.1597915	-1.45459660276873	0.02729	0.1260354	0.999993240608195	0.74766	0.730579	0.87903	0	0.702456	0.74545	0	0.723109	0.80598	0	0.648885	0.59868	0	.	.	2.99	-2.32	0.06360	0.268000	0.18336	-0.302000	0.10107	-0.106000	0.15538	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.5977:0.0:0.4023:0.0	8.373	0.31591	551	0.72115	.;Guanylate kinase-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1599.98	35	chr1	228148724	.	G	A	1599.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=858;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.22;ReadPosRankSum=0.436;SOR=0.714	GT:AD:DP:GQ:PL	0/1:58,63:121:99:1614,0,1363	20	0	1	0
chr1	229659277	229659277	G	A	exonic	URB2	.	nonsynonymous SNV	URB2:NM_001314021:exon10:c.G4555A:p.E1519K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.941	D	0.000	D	1.000	D	1.905	M	0.82	T	-0.656	T	0.275	T	0.662	5.259	33	5.5	2.576	8.174	19.015	0.180	0.022527275655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.018	0.59732	D	0.999	0.77913	D	0.941	0.67658	D	0.000000	0.84330	D	0.046950	1	0.81001	D	2.515	0.73286	M	0.82	0.48142	T	-1.39	0.34397	N	0.705	0.70878	-0.6557	0.62465	T	0.275	0.64629	T	9	0.79105794	0.78664	D	0.022527	0.45427	T	0.180	0.45073	0.49	0.57573	0.689874887879	0.68721	0.6846074097033958	0.68399	0.48230503497	0.47191	0.541827440262	0.44704	T	0.183971	0.53648	T	0.0705571	0.60917	D	-0.136426	0.60426	T	0.959611833095551	0.65581	D	0.880112	0.59716	D	0.37535313	0.58978	0.29575565	0.55608	0.37535313	0.58978	0.29575565	0.55607	-2.602	0.06519	T	.	.	0.226	0.45738	B	.	.	4.907384	0.80710	27.4	0.99937201472321724	0.99661	0.99036	0.90290	D	AEFBI	0.846801	0.76367	D	0.737485343192617	0.82090	7.676984	0.72995708383648	0.84651	8.352356	0.999999824107318	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.5	5.5	0.81386	8.703000	0.91063	11.315000	0.92518	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	19.015	0.92868	508	0.75398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	461.45	80	chr1	229659277	.	G	A	461.45	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-4.008e+00;DP=1854;ExcessHet=0.3300;FS=260.818;InbreedingCoeff=-0.3184;MLEAC=6;MLEAF=0.429;MQ=60.00;MQRankSum=0.00;QD=1.03;ReadPosRankSum=0.874;SOR=10.150	GT:AD:DP:GQ:PL	0/1:106,44:172:53:53,0,2071	4	0	3	14
chr1	237364370	237364370	A	C	exonic	RYR2	.	nonsynonymous SNV	RYR2:NM_001035:exon5:c.A307C:p.K103Q,	Arrhythmogenic right ventricular dysplasia 2, Autosomal dominant;Ventricular tachycardia, catecholaminergic polymorphic, 1, Autosomal dominant	.	.	.	.	.	.	.	.	0.0003	0.03	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.642	P	0.173	B	0.861	N	1.000	D	0	N	-4.85	D	0.223	D	0.778	D	0.407	1.169	9.757	4.29	0.998	5.728	9.158	0.465	0.127560290724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.24955	T	.	.	.	0.642	0.40458	P	0.173	0.35463	B	0.860918	0.08895	N	0.915161	0.856043	0.35304	D	-0.345	0.03330	N	-4.85	0.98245	D	-0.33	0.12472	N	0.586	0.60664	0.223	0.86291	D	0.778	0.92453	D	10	0.6481165	0.69444	D	0.12756	0.80938	D	0.465	0.76089	0.478	0.55663	0.847498209305	0.84603	0.18006924792221943	0.17925	0.460280711038	0.45581	0.740673542023	0.73072	T	0.58382	0.86413	D	0.136913	0.68029	D	-0.0411104	0.67626	D	0.383204340934753	0.28305	T	0.578742	0.20864	T	0.1087952	0.25724	0.07943429	0.17883	0.1087952	0.25723	0.07943429	0.17883	-3.153	0.11915	T	.	.	0.147	0.32541	B	.	.	3.865364	0.56078	23.7	0.88358058821387164	0.17914	0.96105	0.67556	D	AEFBI	0.761097	0.69891	D	-0.0552651680645291	0.39368	2.32041	0.0978444201382945	0.44440	2.725756	5.7706330542363E-4	0.07363	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.42	4.29	0.50359	5.230000	0.65149	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.9153:0.0:0.0847:0.0	9.158	0.36166	975	0.05339	Inositol 1,4,5-trisphosphate/ryanodine receptor	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	797.98	33	chr1	237364370	.	A	C	797.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=764;ExcessHet=0.0000;FS=0.837;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.39;ReadPosRankSum=-9.380e-01;SOR=0.806	GT:AD:DP:GQ:PL	0/1:50,35:85:99:812,0,1207	20	0	1	0
chr1	240207634	240207634	G	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	1	144	3	1	77	82	0.0170648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	10864.06	96	chr1	240207634	.	G	C,*	10864.06	.	AC=9,1;AF=0.225,0.025;AN=40;BaseQRankSum=0.439;DP=1592;ExcessHet=1.5138;FS=0.581;InbreedingCoeff=-0.0794;MLEAC=9,1;MLEAF=0.225,0.025;MQ=59.94;MQRankSum=0.00;QD=12.25;ReadPosRankSum=-1.210e-01;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,48,0:122:99:0|1:240207634_G_C:1697,0,2921,1059,3072,4053:240207634	11	1	7	1
chr1	240207641	240207641	T	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	570	612	17	0	323	340	0.0136986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	12956.77	99	chr1	240207641	.	T	C,*	12956.77	.	AC=10,2;AF=0.238,0.048;AN=42;BaseQRankSum=0.528;DP=1591;ExcessHet=3.2961;FS=0.558;InbreedingCoeff=-0.1667;MLEAC=10,2;MLEAF=0.238,0.048;MQ=59.90;MQRankSum=0.00;QD=12.64;ReadPosRankSum=0.299;SOR=0.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,48,0:120:99:0|1:240207634_G_C:1706,0,2878,1063,3026,4025:240207634	10	1	8	0
chr1	240207806	240207806	C	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	1124	331	37	24	6	91	0.113788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	6284.06	46	chr1	240207806	.	C	T,*	6284.06	.	AC=10,1;AF=0.357,0.036;AN=28;BaseQRankSum=0.800;DP=850;ExcessHet=4.1217;FS=8.259;InbreedingCoeff=-0.1533;MLEAC=13,1;MLEAF=0.464,0.036;MQ=50.66;MQRankSum=0.217;QD=15.95;ReadPosRankSum=0.00;SOR=1.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:20,32,0:52:99:.:.:710,0,343,769,438,1207	4	1	8	7
chr1	240207812	240207812	G	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	1181	328	2	3	8	16	0.0120482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	5214.49	31	chr1	240207812	.	G	T,A,*	5214.49	.	AC=11,3,1;AF=0.306,0.083,0.028;AN=36;BaseQRankSum=0.227;DP=776;ExcessHet=1.2994;FS=0.000;InbreedingCoeff=0.0004;MLEAC=12,3,1;MLEAF=0.333,0.083,0.028;MQ=50.73;MQRankSum=1.59;QD=13.61;ReadPosRankSum=-1.507e+00;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:34,16,0,0:50:99:.:.:269,0,733,368,781,1149,368,781,1149,1149	6	1	7	3
chr1	240208143	240208175	CCCCCTCTACCCGGAGCGGGCATACCCCCTCCT	-	exonic	FMN2	.	nonframeshift deletion	FMN2:NM_020066:exon5:c.3331_3363del:p.G1137_P1147del	Mental retardation, autosomal recessive 47, Autosomal recessive	.	856	664	2	0	0	2	0.00150376	.	.	2812876	not_provided|FMN2-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1289	.	0.0399	0.0261	0.0241	0.0399	0.0123	0.0462	0.0335	0.0459	.	.	.	.	0.0007	0.0011	0.0006	0.0009	0.0029	0.0007	0.0007	0.0025	0.0024	0.0002	0.0003	0.0015	0.0004	0.0018	0.0026	0.0005	0.0007	0.0029	2.42e-05	0.0004	4.687e-05	0	4.279e-05	0	0	.	.	0	0	0	0	0	0	0	4.279e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	613.29	33	chr1	240208142	.	GCCCCCTCTACCCGGAGCGGGCATACCCCCTCCT	G	613.29	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.038e+00;DP=650;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=56.99;MQRankSum=-2.505e+00;QD=19.78;ReadPosRankSum=1.69;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,19:31:99:0|1:240208142_GCCCCCTCTACCCGGAGCGGGCATACCCCCTCCT_G:627,0,446:240208142	19	0	1	1
chr1	245686864	245686864	C	T	exonic	KIF26B	.	nonsynonymous SNV	KIF26B:NM_018012:exon12:c.C3881T:p.S1294L,	.	.	425	1094	3	0	0	3	0.00136924	.	.	718847	KIF26B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.08	T	0.995	D	0.719	P	.	.	1.000	D	2.32	M	-1.64	D	0.297	D	0.653	D	0.402	3.846	19.54	5.92	2.813	7.807	20.321	0.503	0.20537486938	0.0019	0.000199681	0.0013	0.0007	0.0009	0	0.0003	0.0019	0.0011	0.0001	0.0011578	179	154602	rs201987019	0.0018	0.0018	0.0018	0.0018	0.0024	0.0018	0.0017	0.0021	0.0021	0.0007	0.0009	0	0	0.0011	0.0024	0.0022	0.0011	6.96e-05	0.0013	0.0013	0.0013	0.0012	0.0022	0.0011	0.0011	0.0020	0.0018	0.0006	0	0.0001	0	0	0.0005	0.0068	0.0022	0.0024	0	0.001	0.78490	D	0.007	0.69154	D	0.992	0.67487	D	0.652	0.54822	P	.	.	.	.	1	0.81001	D	2.695	0.78878	M	-1.65	0.82625	D	-2.58	0.55662	D	0.494	0.52740	0.297	0.87513	D	0.653	0.87935	D	9	0.039952874	0.02525	T	0.205375	0.86981	D	0.503	0.78538	.	.	0.451049791843	0.44729	0.46689827526882227	0.46608	0.268949311716	0.29407	0.435465574265	0.29956	T	0.521138	0.83256	D	-0.192013	0.21963	T	-0.0547573	0.66696	D	0.0361587894523861	0.03009	T	0.928407	0.73561	D	0.18967241	0.40519	0.24892916	0.50454	0.18967241	0.40519	0.24892916	0.50453	-4.005	0.23878	T	.	.	0.159	0.39305	B	.;.	.;.	4.238429	0.64244	24.7	0.99838549473727811	0.91972	0.99119	0.91505	D	AEFDGBI	0.916849	0.88362	D	0.726209524596274	0.81352	7.501727	0.728413409344753	0.84536	8.319335	0.999999999993229	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.61531	0.40942	0	0.562822	0.20929	0	.	.	5.92	5.92	0.95557	7.894000	0.85895	7.606000	0.61733	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	20.321	0.98668	967	0.07127	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2426.98	102	chr1	245686864	.	C	T	2426.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.99;DP=1532;ExcessHet=0.0000;FS=2.427;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.72;ReadPosRankSum=1.19;SOR=0.876	GT:AD:DP:GQ:PL	0/1:113,94:207:99:2441,0,2753	20	0	1	0
chr1	247738768	247738768	C	T	exonic	OR14K1	.	nonsynonymous SNV	OR14K1:NM_001004732:exon1:c.C154T:p.R52C,	.	.	426	1062	34	0	0	34	0.0157553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	.	.	.	.	0.130	U	1.000	N	.	.	7.73	T	-0.913	T	0.000	T	0.181	1.101	9.494	-6.07	-0.937	0.502	1.914	0.055	.	0.0066	0.00279553	0.0071	0.0009	0.0027	0	0.0012	0.0110	0.0111	0.0044	0.0070633	1092	154602	rs151028061	0.0076	0.0076	0.0073	0.0078	0.0200	0.0074	0.0073	0.0165	0.0153	0.0016	0.0046	0.0077	5.545e-05	0.0022	0.0200	0.0102	0.0082	0.0050	0.0054	0.0054	0.0058	0.0049	0.0088	0.0050	0.0049	0.0082	0.0080	0.0016	0	0.0046	0.0081	0	0.0009	0.0204	0.0088	0.0043	0.0052	0.122	0.27663	T	0.091	0.40110	T	.	.	.	.	.	.	0.130435	0.18659	U	0.376625	1	0.08975	N	.	.	.	7.73	0.00343	T	-3.71	0.70674	D	0.162	0.17002	-0.9128	0.46505	T	0.000	0.00152	T	7	0.013116866	0.00279	T	.	.	.	0.055	0.15663	.	.	0.0551355673512	0.04727	0.07891345326233465	0.07826	0.0838883208807	0.09463	.	.	.	0.019488	0.15519	T	-0.644886	0.00078	T	-0.689716	0.06405	T	0.0224859296631958	0.00963	T	0.252475	0.03851	T	0.09187855	0.21540	0.07249355	0.15646	0.09187855	0.21540	0.07249355	0.15646	-6.274	0.48516	T	.	.	0.087	0.11269	B	.	.	0.586348	0.09550	6.324	0.81515835373729739	0.13724	0.02242	0.06502	N	AEFBI	0.074102	0.14843	N	-0.952447968329772	0.09637	0.4570143	-1.1980015840912	0.05943	0.2846429	1.22797413150332E-4	0.05386	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.62	-6.07	0.01976	0.201000	0.17074	.	.	-1.040000	0.01667	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4644:0.2507:0.1162:0.1687	1.914	0.03093	958	0.09170	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2598.98	33	chr1	247738768	.	C	T	2598.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.79;DP=943;ExcessHet=0.0000;FS=5.289;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.78;ReadPosRankSum=-3.050e-01;SOR=1.032	GT:AD:DP:GQ:PL	0/1:139,102:241:99:2613,0,3565	20	0	1	0
chr1	247857547	247857547	G	T	exonic	TRIM58	.	stopgain	TRIM58:NM_015431:exon1:c.G301T:p.E101X,	.	.	422	1086	14	0	0	14	0.00640439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	.	.	.	.	0.009	N	1.000	A	.	.	.	.	.	.	.	.	.	4.048	20.8	2.4	0.533	0.727	12.488	.	.	.	0.000599042	0.0090	0	0	0	0	0.0114	0	0.0238	0.0003493	54	154602	rs539377117	0.0014	0.0012	0.0013	0.0014	0.0040	0.0013	0.0013	0.0034	0.0032	8.689e-05	0.0005	0.0002	0	0.0007	0.0039	0.0014	0.0011	0.0040	0.0008	0.0008	0.0007	0.0009	0.0035	0.0007	0.0006	0.0022	0.0018	0.0002	0	0.0003	0	0	0.0004	0	0.0012	0.0014	0.0035	.	.	.	.	.	.	.	.	.	.	.	.	0.008747	0.30686	N	0.225800	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.122	0.11340	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0921163	0.63427	D	0.357121	0.90594	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.784188	0.96858	36	0.99346496703570719	0.60412	0.68405	0.33790	D	AEFDBHCIJ	0.150607	0.27492	N	0.160084756337063	0.49291	3.131097	-0.174687774665594	0.32471	1.847651	0.999999999998253	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.578056	0.29568	0	0.584449	0.35598	0	.	.	4.34	2.4	0.28568	3.048000	0.49552	.	.	0.636000	0.52005	1.000000	0.71638	1.000000	0.68203	0.271000	0.23793	0.0:0.3608:0.6392:0.0	12.488	0.55224	958	0.09170	B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger	.	.	.	.	.	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	0.02381	295.98	27	chr1	247857547	.	G	T	295.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.800e-02;DP=606;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.22;ReadPosRankSum=1.14;SOR=0.724	GT:AD:DP:GQ:PL	0/1:21,15:36:99:310,0,456	20	0	1	0
chr1	248441544	248441544	G	A	exonic	OR2T7	.	nonsynonymous SNV	OR2T7:NM_001355223:exon1:c.G428A:p.R143H,	.	.	431	984	107	0	0	107	0.0515663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0111821	0.0140	0.0012	0.0016	0.0007	0.0256	0.0089	0.0177	0.0527	0.000815	126	154602	rs138819139	0.0096	0.0097	0.0079	0.0113	0.0559	0.0095	0.0094	0.0546	0.0541	0.0010	0.0030	0.0133	0.0003	0.0252	0.0209	0.0060	0.0100	0.0559	0.0087	0.0085	0.0073	0.0102	0.0501	0.0083	0.0081	0.0449	0.0429	0.0011	0	0.0031	0.0157	0.0012	0.0257	0.0174	0.0085	0.0098	0.0501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	6403.92	42	chr1	248441544	.	G	A	6403.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.04;DP=2468;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=48.50;MQRankSum=4.58;QD=9.67;ReadPosRankSum=1.26;SOR=0.752	GT:AD:DP:GQ:PL	0/1:126,65:191:99:1426,0,3389	17	0	4	0
chr2	1308517	1308517	G	T	exonic	SNTG2	.	nonsynonymous SNV	SNTG2:NM_018968:exon15:c.G1308T:p.W436C,	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.013	B	0.012	B	0.001	D	1.000	D	0.865	L	-0.58	T	-0.781	T	0.177	T	0.567	0.607	7.271	4.9	2.247	3.280	15.867	0.376	.	0.0002	0.00599042	0.0006	0	0.0268	0.0032	0	0.0001	0	0	0.0007115	110	154602	rs145283195	0.0010	0.0010	0.0011	0.0010	0.0186	0.0010	0.0009	0.0174	0.0169	0.0003	0.0174	0	0.0186	0	0	1.483e-05	0.0017	6.31e-05	0.0016	0.0016	0.0014	0.0018	0.0100	0.0014	0.0014	0.0087	0.0082	0.0007	0	0.0100	0	0.0097	0	0	4.411e-05	0.0043	0	0.187	0.24564	T	0.564	0.10281	T	0.003	0.16609	B	0.003	0.16012	B	0.000776	0.41888	D	0.245861	0.999999	0.58761	D	1.6	0.40776	L	-0.58	0.71425	T	-5.11	0.83092	D	0.641	0.66101	-0.7806	0.56269	T	0.177	0.52225	T	10	0.009831458	0.00221	T	.	.	.	0.376	0.69443	0.798	0.91802	0.59394422163	0.59072	0.598592674641436	0.59790	0.17001482027	0.19168	0.479451626539	0.35980	T	0.133754	0.46462	T	-0.323345	0.06627	T	-0.223613	0.52388	T	0.032921515618884	0.02458	T	0.89951	0.64815	D	0.4264988	0.62522	0.3400726	0.59764	0.4264988	0.62523	0.3400726	0.59763	-9.576	0.72778	D	.	.	0.320	0.56091	B	.;.	.;.	2.916456	0.38706	20.8	0.88645494625736032	0.18140	0.81299	0.40732	D	AEFDBI	0.441202	0.49945	N	-0.137511365853219	0.35767	2.05869	0.0179089891222823	0.40547	2.421553	0.901651555271996	0.26107	0.487112	0.14033	0	0.573888	0.26702	0	0.550215	0.18615	0	0.564101	0.26826	0	.	.	4.9	4.9	0.63643	4.322000	0.59005	6.168000	0.54445	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.728000	0.35033	0.0:0.0:1.0:0.0	15.867	0.78852	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1213.98	38	chr2	1308517	.	G	T	1213.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.710e-01;DP=825;ExcessHet=0.0000;FS=2.293;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.34;ReadPosRankSum=1.52;SOR=0.949	GT:AD:DP:GQ:PL	0/1:75,55:130:99:1228,0,1856	20	0	1	0
chr2	6849953	6849953	C	T	exonic	CMPK2	.	nonsynonymous SNV	CMPK2:NM_207315:exon5:c.G1247A:p.R416Q,	.	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.947	P	0.5	P	0.000	D	1.000	D	1.75	L	1.0	T	-0.973	T	0.120	T	0.271	4.853	27.7	3.86	0.839	5.144	10.785	0.133	0.0306768574171	.	.	4.972e-05	0	0	0.0001	0	6e-05	0	6.058e-05	3.88e-05	6	154602	rs754020979	3.557e-05	3.557e-05	2.586e-05	4.538e-05	0.0003	2.762e-05	2.501e-05	9.793e-05	7.84e-05	2.987e-05	2.236e-05	0	0	7.488e-05	0.0003	2.518e-05	3.312e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.011	0.64786	D	0.947	0.53479	P	0.5	0.47649	P	0.000000	0.84330	D	0.000000	0.995404	0.81001	D	2.285	0.65182	M	1.0	0.41392	T	-2.74	0.58248	D	0.449	0.48689	-0.9733	0.36496	T	0.120	0.41886	T	10	0.35136688	0.51988	T	0.030677	0.52936	D	0.133	0.36157	.	.	0.727020907511	0.72459	0.539839644015454	0.53908	1.07592574384	0.76966	0.402659386396	0.25439	T	0.065645	0.32742	T	-0.237107	0.15720	T	-0.374765	0.36332	T	0.730006694793701	0.42210	D	0.860814	0.55431	D	0.6508969	0.75412	0.5669144	0.74930	0.6508969	0.75413	0.5669144	0.74931	-5.604	0.42829	T	.	.	0.248	0.48313	B	.	.	4.885937	0.80171	27.3	0.99953597196892163	0.99963	0.96147	0.67748	D	AEFDBI	0.717398	0.66892	D	0.366601864309919	0.59623	4.143106	0.37218432860404	0.59855	4.167065	0.999845794836111	0.43971	0.706298	0.61202	0	0.709663	0.81188	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.69	3.86	0.43689	5.198000	0.64983	1.981000	0.30034	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.745000	0.35611	0.1319:0.8005:0.0:0.0676	10.785	0.45604	977	0.04225	Thymidylate kinase-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1727.98	33	chr2	6849953	.	C	T	1727.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=859;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.50;ReadPosRankSum=-1.532e+00;SOR=0.741	GT:AD:DP:GQ:PL	0/1:58,70:128:99:1742,0,1244	20	0	1	0
chr2	21007033	21007033	T	C	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon26:c.A9835G:p.S3279G,	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	.	0	1455	64	3	0	70	0.0234899	.	.	215238	Hypercholesterolemia,_autosomal_dominant,_type_B|not_specified|Familial_hypobetalipoproteinemia_1|Familial_hypercholesterolemia|not_provided|Hypercholesterolemia,_familial,_1|Cardiovascular_phenotype	MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MedGen:CN169374|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:C3661900|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.991	D	0.913	D	0.232	N	1.000	D	2.995	M	1.1	T	-0.676	T	0.159	T	0.029	1.334	10.38	3.41	0.579	3.329	11.412	0.264	.	0.0086	0.0071885	0.0044	0.0159	0.0067	0	0	0.0039	0.0121	0.0012	0.0044307	685	154602	rs12720854	0.0033	0.0033	0.0032	0.0033	0.0565	0.0032	0.0031	0.0515	0.0495	0.0184	0.0064	0.0102	0	0.0001	0.0565	0.0025	0.0065	0.0013	0.0076	0.0077	0.0076	0.0077	0.0170	0.0073	0.0071	0.0160	0.0156	0.0170	0	0.0103	0.0136	0.0002	0	0.0646	0.0029	0.0137	0.0010	0.015	0.52492	D	0.003	0.76473	D	.	.	.	.	.	.	0.232473	0.15889	N	0.611296	0.64386	0.30592	N	.	.	.	1.1	0.39050	T	-1.98	0.45769	N	0.246	0.27792	-0.6764	0.61538	T	0.159	0.49262	T	10	0.004425019	0.00090	T	.	.	.	0.264	0.57741	.	.	0.68203097115	0.67932	0.4890100810306947	0.48821	0.0491091118445	0.05371	0.247466355562	0.03505	T	.	.	.	-0.577868	0.00199	T	-0.589218	0.13734	T	0.0582436336760406	0.06889	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.15115	B	.	.	1.757170	0.22349	15.58	0.98647528733884859	0.44137	0.94699	0.62026	D	AEFBHCI	0.702324	0.65873	D	0.205179900652132	0.51449	3.326111	-0.00190597407924668	0.39631	2.352652	0.999990155919605	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.6	3.41	0.38145	3.427000	0.52552	0.098000	0.14610	0.665000	0.62972	1.000000	0.71638	0.000000	0.08366	0.120000	0.19168	0.0:0.0:0.1512:0.8488	11.412	0.49171	861	0.33516	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.07143	34170.68	37	chr2	21007033	.	T	C	34170.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.423e+00;DP=3883;ExcessHet=0.3300;FS=0.520;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=-6.800e-01;SOR=0.635	GT:AD:DP:GQ:PL	0/1:482,480:964:99:11659,0,12064	18	0	3	0
chr2	23864893	23864893	T	C	exonic	ATAD2B	.	nonsynonymous SNV	ATAD2B:NM_001242338:exon11:c.A1220G:p.H407R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.006	B	0.017	B	.	.	0.956	D	0.26	N	-3.53	D	-0.892	T	0.148	T	0.262	1.849	12.14	5.84	2.367	4.223	16.532	0.084	0.0116478170939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.077e-06	4.105e-06	4.129e-06	0	2.717e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.717e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.09048	T	0.527	0.10209	T	.	.	.	.	.	.	.	.	.	.	0.955574	0.37932	D	.	.	.	-3.53	0.94764	D	-1.58	0.38151	N	0.19	0.20793	-0.8923	0.48731	T	0.148	0.47344	T	9	0.17789313	0.32846	T	0.011648	0.29486	T	0.219	0.51417	0.331	0.31681	0.672754582956	0.66998	0.6648068104265349	0.66417	0.60285670828	0.55282	0.627035319805	0.56724	T	.	.	.	0.0664316	0.60411	T	-0.142352	0.59914	T	0.361597471305519	0.27471	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11845	B	.	.	3.381871	0.46779	22.4	0.96857722296242954	0.31369	0.92978	0.57018	D	AEFBI	0.378817	0.46207	N	0.214845505970457	0.51920	3.369515	0.360670962237465	0.59152	4.090821	0.916302595852516	0.26509	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	4.206000	0.58271	6.222000	0.55136	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.532	0.84210	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.325	1873.78	24	chr2	23864893	.	T	C	1873.78	.	AC=13;AF=0.325;AN=40;BaseQRankSum=-1.572e+00;DP=1254;ExcessHet=11.8493;FS=218.613;InbreedingCoeff=-0.4705;MLEAC=13;MLEAF=0.325;MQ=60.00;MQRankSum=0.00;QD=2.15;ReadPosRankSum=0.843;SOR=11.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:48,36:84:99:.:.:271,0,469	7	0	13	1
chr2	25981310	25981310	G	A	exonic	KIF3C	.	nonsynonymous SNV	KIF3C:NM_002254:exon1:c.C608T:p.A203V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.113	B	0.141	B	0.000	D	0.991	D	0.3	N	-0.95	T	-0.788	T	0.226	T	0.135	2.055	12.83	4.79	1.398	7.966	12.486	0.202	0.0460144413445	.	0.000998403	0.0007	0	0	0	0	0	0	0.0048	0.0005433	84	154602	rs557851986	0.0003	0.0003	0.0002	0.0004	0.0043	0.0002	0.0002	0.0040	0.0038	0	0	0	2.519e-05	0	0	2.698e-06	0.0003	0.0043	0.0001	0.0001	5.139e-05	0.0002	0.0039	8.162e-05	6.719e-05	0.0026	0.0021	0	0	0	0	0	0	0	0	0	0.0039	0.056	0.38185	T	0.056	0.46632	T	.	.	.	.	.	.	0.000252	0.46924	D	0.218753	0.991073	0.41302	D	.	.	.	-0.95	0.75438	T	-2.52	0.54702	D	0.171	0.20528	-0.7885	0.55817	T	0.226	0.59121	T	10	0.014927536	0.00313	T	0.046014	0.62257	D	0.202	0.48754	0.42	0.46200	0.507610542083	0.50399	0.3637966472103065	0.36293	1.10394199327	0.77820	0.688171565533	0.65442	T	.	.	.	-0.395754	0.02468	T	-0.340434	0.40296	T	0.146591477632964	0.16829	T	0.934007	0.75281	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.27968	B	.;.	.;.	4.804555	0.78095	26.8	0.9908135896408925	0.51978	0.93052	0.57205	D	AEFGBCI	0.824717	0.74456	D	-0.0827396643560503	0.38149	2.229983	0.0996839180261705	0.44533	2.733245	0.999999999697884	0.74766	0.660085	0.49399	0	0.588066	0.40923	0	0.719019	0.79029	0	0.651492	0.60203	0	.	.	5.67	4.79	0.60909	8.092000	0.89357	9.994000	0.83002	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0812:0.0:0.9188:0.0	12.486	0.55218	395	0.83006	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1587.98	34	chr2	25981310	.	G	A	1587.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.300e-02;DP=899;ExcessHet=0.0000;FS=0.607;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.52;ReadPosRankSum=-1.610e+00;SOR=0.629	GT:AD:DP:GQ:PL	0/1:87,64:151:99:1602,0,2287	20	0	1	0
chr2	29072452	29072452	C	A	exonic	PCARE	.	nonsynonymous SNV	PCARE:NM_001029883:exon1:c.G1810T:p.V604L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.206	B	0.091	B	0.308	N	1.000	N	1.59	L	2.1	T	-0.992	T	0.053	T	0.123	1.476	10.88	-4.27	-0.966	-0.122	13.659	0.069	0.00873176784212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.22224	T	0.224	0.25591	T	0.206	0.29860	B	0.091	0.29943	B	0.307856	0.03995	N	1.545370	1	0.08975	N	.	.	.	2.1	0.19990	T	-1.14	0.29323	N	0.121	0.11197	-0.9915	0.32218	T	0.053	0.22307	T	10	0.06606516	0.09006	T	0.008732	0.23050	T	0.069	0.20116	0.072	0.00442	0.183819452728	0.17975	0.06190834643945635	0.06130	0.0173074127301	0.01682	.	.	.	0.003313	0.02718	T	-0.306838	0.08030	T	-0.678528	0.07073	T	0.243824660778046	0.22594	T	0.49745	0.15470	T	0.07566836	0.17063	0.08996592	0.21071	0.07566836	0.17063	0.08996592	0.21070	-2.593	0.06450	T	.	.	0.139	0.30318	B	.	.	-0.828152	0.01053	0.045	0.91723711181086331	0.21019	0.22442	0.21748	N	AEFDBI	0.119383	0.23302	N	-0.926664646336934	0.10221	0.48743	-1.03205319797465	0.09084	0.450046	0.412841090986667	0.20227	0.569682	0.32691	0	0.547309	0.14657	0	0.657636	0.52715	0	0.542086	0.14980	0	.	.	5.32	-4.27	0.03486	-0.090000	0.11129	-10.233000	0.00724	-0.177000	0.10537	0.000000	0.06391	0.000000	0.08366	0.040000	0.14268	0.0:0.4075:0.0:0.5925	13.659	0.61832	449	0.79428	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	6389.98	474	chr2	29072452	.	C	A	6389.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.18;DP=5161;ExcessHet=0.0000;FS=1.118;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.99;ReadPosRankSum=-8.400e-02;SOR=0.574	GT:AD:DP:GQ:PL	0/1:248,244:492:99:6404,0,6338	20	0	1	0
chr2	32811205	32811205	C	G	exonic	TTC27	.	nonsynonymous SNV	TTC27:NM_001193509:exon17:c.C2030G:p.P677R	.	.	.	.	.	.	.	.	.	.	.	3487224	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.52	T	0.868	P	0.23	B	0.012	N	0.577	D	0.295	N	1.25	T	-1.060	T	0.041	T	0.488	0.418	6.271	5.22	2.708	1.311	8.512	0.097	0.00781855456823	.	.	1.798e-05	0	0	0.0003	0	0	0	0	1.29e-05	2	154602	rs764606131	4.79e-06	4.788e-06	8.169e-06	1.376e-06	0.0002	1.99e-06	1.28e-06	8.199e-05	5.785e-05	0	0	0	0.0002	0	0	0	0	0	1.314e-05	1.314e-05	1.285e-05	1.345e-05	0.0004	2.18e-06	8.2e-07	6.83e-05	2.858e-05	0	0	0	0	0.0004	0	0	0	0	0	0.104	0.29959	T	0.386	0.15698	T	0.868	0.47740	P	0.23	0.38212	B	0.011574	0.29481	N	0.392664	0.577192	0.32344	D	1.385	0.34509	L	1.25	0.36512	T	-0.67	0.19297	N	0.41	0.45047	-1.0604	0.11656	T	0.041	0.17488	T	10	0.11862698	0.22431	T	0.007819	0.20747	T	0.097	0.27909	0.324	0.30549	0.458464862945	0.45469	0.3948830912160548	0.39403	0.0555837444901	0.06145	0.393298566341	0.24134	T	0.063248	0.32127	T	-0.290813	0.09555	T	-0.36336	0.37662	T	0.146137476463805	0.16792	T	0.723828	0.33737	T	0.04136281	0.06077	0.036145274	0.03003	0.04136281	0.06076	0.036145274	0.03003	-6.613	0.51153	T	.	.	0.092	0.13409	B	.	.	3.457358	0.48168	22.6	0.93599302804643092	0.23455	0.71298	0.34953	D	AEFDGBIJ	0.081622	0.16518	N	-0.0577258694710987	0.39258	2.312178	0.0286986845631479	0.41052	2.460047	0.999975671752193	0.50053	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.22	5.22	0.72285	1.358000	0.33706	7.657000	0.64017	0.599000	0.40250	0.992000	0.37556	1.000000	0.68203	0.321000	0.24994	0.2637:0.5829:0.1534:0.0	8.512	0.32383	208	0.91895	.	.	.	.	.	.	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	0.02381	815.98	33	chr2	32811205	.	C	G	815.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.515e+00;DP=736;ExcessHet=0.0000;FS=1.323;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.40;ReadPosRankSum=0.740;SOR=1.085	GT:AD:DP:GQ:PL	0/1:25,28:53:99:830,0,698	20	0	1	0
chr2	33515141	33515141	G	A	exonic	RASGRP3	.	nonsynonymous SNV	RASGRP3:NM_015376:exon2:c.G5A:p.G2E	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.714	P	0.194	B	0.002	N	1.000	D	1.04	L	1.17	T	-0.426	T	0.326	T	0.367	2.408	14.01	4.88	1.439	4.844	14.564	0.090	0.0406963053028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.34982	T	0.576	0.92824	T	0.714	0.42167	P	0.194	0.36557	B	0.001550	0.38671	N	0.212294	0.999671	0.48205	D	1.335	0.33326	L	-1.45	0.80899	T	-0.74	0.96294	N	0.308	0.36674	-0.4265	0.71180	T	0.326	0.69427	T	10	0.43952185	0.58011	T	0.040696	0.59520	D	0.090	0.26093	0.276	0.22845	0.85024454146	0.84880	0.3378674005269294	0.33699	0.606396656701	0.55488	0.801899433136	0.82253	T	0.210623	0.57116	T	0.0393541	0.56962	T	-0.181247	0.56407	T	0.722990155220032	0.41850	D	0.828817	0.49341	T	0.0990507	0.23370	0.1309471	0.31454	0.0990507	0.23370	0.1309471	0.31454	-3.026	0.10464	T	.	.	0.233	0.60063	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.493628	0.32177	18.96	0.98342421023657201	0.40457	0.95575	0.65269	D	AEFGBI	0.795598	0.72297	D	0.140172099747668	0.48345	3.048118	0.22479715529862	0.51227	3.307075	0.99999464487829	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.75	4.88	0.63131	5.011000	0.63768	6.548000	0.55903	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.648000	0.32638	0.0696:0.0:0.9304:0.0	14.564	0.67753	756	0.51065	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1730.98	33	chr2	33515141	.	G	A	1730.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.530e-01;DP=872;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=2.77;SOR=0.723	GT:AD:DP:GQ:PL	0/1:77,76:153:99:1745,0,1842	20	0	1	0
chr2	43809753	43809753	G	C	exonic	DYNC2LI1	.	nonsynonymous SNV	DYNC2LI1:NM_001193464:exon13:c.G1045C:p.E349Q	Short-rib throacic dysplasia 15 with polydactyly, Autosomal recessive	.	456	1060	5	1	0	7	0.00329102	.	.	697571	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.42	T	0.03	B	0.034	B	0.023	N	1.000	N	0.69	N	2.15	T	-1.061	T	0.091	T	0.165	2.466	14.21	5.11	2.642	3.891	15.567	0.030	0.00649819671602	0.0023	0.000798722	0.0018	0.0001	0.0007	0	0	0.0031	0	0.0002	0.0015912	246	154602	rs41281457	0.0015	0.0015	0.0014	0.0015	0.0014	0.0014	0.0014	0.0010	0.0010	0.0002	0.0008	0.0267	0	0.0001	0.0014	0.0011	0.0034	0.0001	0.0016	0.0016	0.0017	0.0015	0.0015	0.0014	0.0014	0.0013	0.0012	0.0004	0	0.0007	0.0302	0	9.423e-05	0	0.0015	0.0024	0	0.26	0.16574	T	0.246	0.24054	T	0.018	0.20002	B	0.015	0.22546	B	0.022667	0.26589	N	0.410732	0.927695	0.27138	N	1.905	0.50856	L	2.15	0.19311	T	-0.54	0.16598	N	0.109	0.12627	-1.0612	0.11459	T	0.091	0.34847	T	10	0.0021591187	0.00031	T	0.006498	0.17129	T	0.030	0.07022	.	.	0.110078149338	0.10416	0.28648085428226705	0.28561	0.0395115337248	0.04217	0.421312689781	0.28017	T	0.031434	0.22039	T	-0.521083	0.00434	T	-0.54029	0.18268	T	0.0162886221873582	0.00400	T	0.694731	0.30434	T	0.08197862	0.18862	0.05434256	0.09330	0.107283	0.25367	0.06866476	0.14367	-3.548	0.17467	T	.	.	0.118	0.25462	B	.;.	.;.	2.059045	0.26183	17.03	0.99351661716438056	0.60615	0.86873	0.46251	D	AEFBI	0.295283	0.40544	N	-0.102872209322652	0.37268	2.165758	0.101427095412114	0.44621	2.740366	0.999967266713653	0.48965	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	5.11	5.11	0.69188	3.939000	0.56302	5.087000	0.47319	-0.116000	0.14526	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:0.0:1.0:0.0	15.567	0.76044	637	0.64373	.;.	.	.	.	.	.	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	0.02381	879.98	66	chr2	43809753	.	G	C	879.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.926;DP=887;ExcessHet=0.0000;FS=1.935;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=0.166;SOR=0.458	GT:AD:DP:GQ:PL	0/1:35,38:73:99:894,0,755	20	0	1	0
chr2	46380506	46380506	G	A	exonic	EPAS1	.	nonsynonymous SNV	EPAS1:NM_001430:exon12:c.G1834A:p.G612R,	Erythrocytosis, familial, 4	.	0	1521	1	0	0	1	0.000328623	.	.	733497	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.52	T	0.181	B	0.018	B	0.328	N	1.000	N	1.24	L	0.85	T	-1.061	T	0.071	T	0.413	0.057	4.310	5.18	2.426	2.514	12.548	0.070	0.00839222944076	0.0005	0.000998403	0.0003	0.0029	0	0.0001	0	1.5e-05	0.0011	0.0002	0.0002781	43	154602	rs142445582	9.714e-05	9.713e-05	9.12e-05	0.0001	0.0027	8.376e-05	7.915e-05	0.0022	0.0021	0.0027	0.0001	0	5.038e-05	0	0.0005	1.079e-05	0.0002	0.0002	0.0007	0.0006	0.0006	0.0007	0.0021	0.0005	0.0005	0.0018	0.0016	0.0021	0	0.0004	0	0.0004	0	0	1.471e-05	0.0005	0	0.338	0.12796	T	0.195	0.28032	T	0.181	0.29111	B	0.018	0.18489	B	0.328075	0.14160	N	0.703400	1	0.08975	N	1.79	0.46772	L	0.85	0.47130	T	-0.89	0.24026	N	0.39	0.43126	-1.0612	0.11459	T	0.071	0.28936	T	10	0.0077501833	0.00176	T	0.008392	0.22206	T	0.070	0.20419	0.174	0.08014	0.551803678752	0.54839	0.4558328497175547	0.45501	0.170797870881	0.19246	0.468226313591	0.34436	T	0.399237	0.75713	T	-0.448535	0.01152	T	-0.422303	0.30810	T	0.0122786086327722	0.00199	T	0.865813	0.56549	D	0.05529735	0.10729	0.066820234	0.13741	0.05529735	0.10729	0.066820234	0.13740	-3.805	0.20879	T	.	.	0.106	0.19760	B	.	.	2.806095	0.36928	20.4	0.80802799438052375	0.13376	0.73354	0.35883	D	AEFDBCI	0.480760	0.52234	N	-0.355339079825623	0.27077	1.482703	-0.276163710244457	0.28886	1.614026	0.999175983140622	0.38651	0.706548	0.73137	0	0.588066	0.40923	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.18	5.18	0.71140	1.279000	0.32796	8.709000	0.78130	0.613000	0.49114	0.163000	0.23839	1.000000	0.68203	0.194000	0.21720	0.0865:0.0:0.9135:0.0	12.548	0.55556	905	0.23532	.	.	.	.	.	.	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	0.02381	1830.98	33	chr2	46380506	.	G	A	1830.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.49;DP=825;ExcessHet=0.0000;FS=0.641;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=1.05;SOR=0.591	GT:AD:DP:GQ:PL	0/1:63,72:135:99:1845,0,1389	20	0	1	0
chr2	47369516	47369516	C	T	exonic	EPCAM	.	nonsynonymous SNV	EPCAM:NM_002354:exon1:c.C11T:p.P4L,	Colorectal cancer, hereditary nonpolyposis, type 8;Diarrhea 5, with tufting enteropathy, congenital, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	621120	not_specified|Congenital_diarrhea_5_with_tufting_enteropathy|Lynch_syndrome_8	MedGen:CN169374|MONDO:MONDO:0013184,MedGen:C2750737,OMIM:613217,Orphanet:92050|MONDO:MONDO:0013196,MedGen:C2750471,OMIM:613244,Orphanet:144	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.8	T	0.014	B	0.002	B	0.239	N	0.995	N	1.445	L	-0.77	T	-0.841	T	0.365	T	0.25	0.676	7.618	1.17	0.042	0.236	5.881	0.105	0.515611264416	.	.	.	.	.	.	.	.	.	.	.	.	.	rs778641299	2.834e-06	5.472e-06	5.612e-06	0	0.0001	6.6e-07	4.5e-07	4.26e-05	2.593e-05	0.0001	0	0	0	0	0	0	0	0	1.313e-05	1.312e-05	2.57e-05	0	4.811e-05	2.18e-06	8.2e-07	7.97e-06	2.98e-06	4.811e-05	0	0	0	0	0	0	0	0	0	0.643	0.91255	T	0.597	0.92824	T	0.014	0.16867	B	0.002	0.06944	B	0.239396	0.15745	N	0.616838	0.999978	0.23308	N	1.59	0.40313	L	-0.77	0.84842	T	-1.2	0.30555	N	0.138	0.13626	-0.8406	0.52607	T	0.365	0.72575	T	10	0.090209454	0.15695	T	0.515611	0.95368	D	0.105	0.29889	0.34	0.33141	0.208000267992	0.20380	0.6097746306863321	0.60909	0.0126512026811	0.01211	0.678605496883	0.64069	T	0.155555	0.49733	T	-0.00658684	0.50741	T	-0.247238	0.50089	T	0.06254792958498	0.07565	T	0.515049	0.16594	T	0.028396368	0.02172	0.048641883	0.07268	0.028396368	0.02171	0.048641883	0.07268	-2.429	0.05314	T	.	.	0.153	0.48156	B	.;.	.;.	1.065456	0.14476	11.05	0.95829439097275959	0.27933	0.03546	0.08744	N	AEFDGBHCI	0.059090	0.11135	N	-1.16372069653837	0.05558	0.2536752	-1.18262526453959	0.06200	0.2976716	0.99999999996966	0.74766	0.441713	0.08003	0	0.475579	0.06741	0	0.52208	0.10781	0	0.554799	0.18163	0	.	.	3.97	1.17	0.19998	0.251000	0.18025	-0.416000	0.09315	-0.281000	0.06419	0.008000	0.17931	0.000000	0.08366	0.050000	0.15192	0.0:0.6529:0.0:0.3471	5.881	0.18105	893	0.26510	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	865.98	33	chr2	47369516	.	C	T	865.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.132;DP=768;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=-9.070e-01;SOR=0.627	GT:AD:DP:GQ:PL	0/1:34,35:69:99:880,0,866	20	0	1	0
chr2	70212810	70212810	T	C	exonic	TIA1	.	nonsynonymous SNV	TIA1:NM_001351514:exon11:c.A842G:p.N281S	Welander distal myopathy, Autosomal recessive, Autosomal dominant	.	433	1063	25	1	0	27	0.0125406	.	.	250766	Amyotrophic_lateral_sclerosis_26_with_or_without_frontotemporal_dementia|Welander_distal_myopathy|not_provided|not_specified|TIA1-related_disorder	MONDO:MONDO:0030885,MedGen:C5436882,OMIM:619133|MONDO:MONDO:0011466,MedGen:C0221054,OMIM:604454,Orphanet:603|MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.16	T	0.787	P	0.234	B	0.000	D	1.000	D	1.43	L	2.06	T	-1.132	T	0.042	T	0.153	2.087	12.94	5.88	2.250	2.022	15.114	0.086	.	0.0068	0.00159744	0.0071	0.0011	0.0017	0.0001	0.0062	0.0096	0.0121	0.0082	0.006714	1038	154602	rs116621885	0.0074	0.0074	0.0072	0.0076	0.0097	0.0073	0.0072	0.0091	0.0089	0.0008	0.0018	0.0111	0	0.0062	0.0071	0.0078	0.0075	0.0097	0.0058	0.0058	0.0062	0.0054	0.0098	0.0055	0.0054	0.0092	0.0090	0.0014	0	0.0017	0.0095	0.0004	0.0044	0.0068	0.0098	0.0033	0.0085	0.774	0.28271	T	0.508	0.18018	T	0.224	0.44504	B	0.035	0.38393	B	0.000000	0.84330	D	0.000000	0.999885	0.50402	D	0.69	0.16971	N	1.87	0.24085	T	-0.69	0.20576	N	0.145	0.17966	-1.1318	0.01698	T	0.042	0.18035	T	10	0.008425117	0.00191	T	.	.	.	0.086	0.25016	.	.	0.505014679873	0.50138	0.7826891376531397	0.78219	0.449003188195	0.44711	0.48201584816	0.36334	T	0.19771	0.55447	T	-0.53217	0.00373	T	-0.525526	0.19737	T	0.021698436316006	0.00876	T	0.907309	0.80370	D	0.13183007	0.30715	0.083171055	0.19040	0.100094944	0.23631	0.083171055	0.19040	-3.659	0.20342	T	.	.	0.058	0.00693	B	.;.;.;.	.;.;.;.	2.930871	0.38935	20.8	0.96730909776813989	0.30888	0.81882	0.41199	D	AEFDGBHCI	0.335452	0.43389	N	0.132091676009274	0.47965	3.014956	0.267106633268196	0.53630	3.530868	0.999999989995281	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.697927	0.64325	0	0.735409	0.98432	0	.	.	5.88	5.88	0.94564	2.023000	0.40660	7.952000	0.75854	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:0.0:0.0:1.0	15.114	0.72058	492	0.76569	.;.;.;RNA recognition motif domain	.	.	.	.	rs116621885	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2643.11	34	chr2	70212810	.	T	C	2643.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.906;DP=880;ExcessHet=0.1072;FS=0.494;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=0.844;SOR=0.755	GT:AD:DP:GQ:PL	0/1:66,63:129:99:1493,0,1744	19	0	2	0
chr2	73385912	73385912	-	GGA	exonic	ALMS1	.	nonframeshift insertion	ALMS1:NM_001378454:exon1:c.44_45insGGA:p.E28_A29insE	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	0/1:22,17,0,0,0,0:39:99:598,0,820,664,871,1535,664,871,1535,1535,664,871,1535,1535,1535,664,871,1535,1535,1535,1535	0	4	5	0
chr2	73385907	73385912	GGAGGA	-	exonic	ALMS1	.	nonframeshift deletion	ALMS1:NM_001378454:exon1:c.39_44del:p.E27_E28del	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	0/1:22,17,0,0,0,0:39:99:598,0,820,664,871,1535,664,871,1535,1535,664,871,1535,1535,1535,664,871,1535,1535,1535,1535	0	4	5	0
chr2	73385910	73385912	GGA	-	exonic	ALMS1	.	nonframeshift deletion	ALMS1:NM_001378454:exon1:c.42_44del:p.E28del	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	0/1:22,17,0,0,0,0:39:99:598,0,820,664,871,1535,664,871,1535,1535,664,871,1535,1535,1535,664,871,1535,1535,1535,1535	0	4	5	0
chr2	73385912	73385912	-	GGAGGA	exonic	ALMS1	.	nonframeshift insertion	ALMS1:NM_001378454:exon1:c.44_45insGGAGGA:p.E28_A29insEE	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	0/1:22,17,0,0,0,0:39:99:598,0,820,664,871,1535,664,871,1535,1535,664,871,1535,1535,1535,664,871,1535,1535,1535,1535	0	4	5	0
chr2	74378244	74378244	G	A	exonic	DCTN1	.	nonsynonymous SNV	DCTN1:NM_001135040:exon2:c.C35T:p.T12M	Neuropathy, distal hereditary motor, type VIIB, Autosomal dominant;Perry syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	0.8842	0.724	989010	Inborn_genetic_diseases|Amyotrophic_lateral_sclerosis_type_1|Perry_syndrome|Neuronopathy,_distal_hereditary_motor,_type_7B	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007103,MedGen:C1862939,OMIM:105400,Orphanet:803|MONDO:MONDO:0008201,MedGen:C1868594,OMIM:168605,Orphanet:178509|MONDO:MONDO:0011879,MedGen:C1843315,OMIM:607641,Orphanet:139589	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.908	P	0.403	B	0.000	D	1.000	D	0.345	N	-0.67	T	-0.033	T	0.413	T	0.262	4.525	24.4	4.99	2.299	6.180	17.037	0.350	0.104951708385	.	0.000199681	3.398e-05	0	0.0002	0	0	3.102e-05	0	0	3.23e-05	5	154602	rs72659364	2.957e-05	3.078e-05	2.875e-05	3.04e-05	0.0002	2.228e-05	1.98e-05	9.928e-05	7.224e-05	0.0001	0.0001	0	0.0002	0	0	2.068e-05	3.315e-05	0	5.25e-05	5.249e-05	2.569e-05	8.053e-05	0.0003	2.554e-05	1.828e-05	8.868e-05	5.28e-05	4.808e-05	0	0.0003	0	0.0002	0	0	1.47e-05	0	0	0.002	0.78490	D	0.009	0.66756	D	0.908	0.50127	P	0.403	0.44588	B	0.000486	0.43931	D	0.000000	0.999897	0.81001	D	0.895	0.22405	L	-0.86	0.84919	T	-0.48	0.17003	N	0.229	0.33360	-0.0334	0.81558	T	0.413	0.76061	T	10	0.14124241	0.30685	T	0.104952	0.77981	D	0.350	0.67142	0.147	0.05039	0.940131082725	0.93950	0.37512195972396567	0.37426	0.822855685538	0.67260	0.610837638378	0.54435	T	0.104205	0.41356	T	-0.0735702	0.40754	T	-0.160687	0.58290	T	0.113778534256699	0.13811	T	0.944206	0.78893	D	0.17075516	0.37669	0.14200577	0.33798	0.17075516	0.37669	0.14200577	0.33797	-7.796	0.62969	D	.	.	0.113	0.39765	B	.;.;.;.;.	.;.;.;.;.	4.762773	0.77023	26.6	0.99860365391248918	0.93911	0.99160	0.92113	D	AEFDBI	0.861751	0.77989	D	0.189369749898476	0.50690	3.256545	0.312424599351386	0.56270	3.789994	0.999999999999998	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	4.99	4.99	0.65942	6.530000	0.73725	11.820000	0.97208	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.846000	0.39970	0.0:0.0:1.0:0.0	17.037	0.86353	528	0.73785	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	785.98	30	chr2	74378244	.	G	A	785.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.212;DP=758;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.29;ReadPosRankSum=-1.770e-01;SOR=0.651	GT:AD:DP:GQ:PL	0/1:26,29:55:99:800,0,742	20	0	1	0
chr2	84443366	84443366	C	T	exonic	SUCLG1	.	nonsynonymous SNV	SUCLG1:NM_003849:exon3:c.G236A:p.G79D,	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), Autosomal recessive	YES	0	1515	7	0	0	7	0.00230491	.	.	200025	Mitochondrial_DNA_depletion_syndrome|Mitochondrial_DNA_depletion_syndrome_9|not_provided|SUCLG1-related_disorder|not_specified	MONDO:MONDO:0018158,MedGen:C0342782,OMIM:PS603041,Orphanet:35698|MONDO:MONDO:0009504,MedGen:C3151476,OMIM:245400,Orphanet:17|MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.3	H	-2.8	D	1.065	D	0.917	D	0.978	4.098	21.1	5.9	2.808	7.818	17.771	0.915	0.359913555663	0.0011	0.000599042	0.0014	0.0003	0.0010	0	0.0002	0.0023	0.0033	0	0.0013842	214	154602	rs143030960	0.0014	0.0014	0.0014	0.0014	0.0023	0.0014	0.0014	0.0015	0.0015	0.0002	0.0011	0.0060	0	0.0002	0.0023	0.0016	0.0016	3.478e-05	0.0010	0.0010	0.0010	0.0009	0.0014	0.0008	0.0008	0.0011	0.0011	0.0004	0.0066	0.0006	0.0066	0	0	0	0.0014	0.0005	0	0.002	0.72154	D	0.005	0.72224	D	0.998	0.73220	D	0.978	0.74104	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.75	0.99567	H	-2.8	0.91076	D	-6.27	0.90648	D	0.983	0.99260	1.065	0.98458	D	0.917	0.97267	D	10	0.16022444	0.30085	T	0.359914	0.92485	D	0.915	0.97776	.	.	0.9926914044	0.99260	0.948245519256547	0.94807	0.292823477576	0.31705	0.750353336334	0.74499	T	0.788196	0.94471	D	0.176874	0.71756	D	0.474507	0.94093	D	0.222433403134346	0.21584	T	0.982502	0.94093	D	0.9234007	0.93580	0.83897597	0.90770	0.9234007	0.93581	0.83897597	0.90771	-11.023	0.79785	D	0.47542989893253995	0.55509	0.285	0.51763	B	.	.	5.097245	0.85145	28.5	0.99566450329433309	0.72136	0.98923	0.88681	D	AEFGBI	0.957157	0.97616	D	1.07405079728207	0.97624	16.45562	0.971905966767046	0.98006	17.21681	0.999999999999843	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	7.892000	0.85858	7.587000	0.61135	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.786000	0.37147	0.0:1.0:0.0:0.0	17.771	0.88401	807	0.43470	CoA-binding|CoA-binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1784.11	34	chr2	84443366	.	C	T	1784.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.626e+00;DP=798;ExcessHet=0.1072;FS=1.342;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.74;ReadPosRankSum=0.177;SOR=0.863	GT:AD:DP:GQ:PL	0/1:38,38:76:99:967,0,1063	19	0	2	0
chr2	85350975	85350975	A	-	exonic	RETSAT	.	frameshift deletion	RETSAT:NM_017750:exon3:c.402delT:p.F134Lfs*62,	.	.	428	1085	9	0	0	9	0.00413034	.	.	2812059	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.00219649	0.0025	0.0002	8.64e-05	0.0047	0.0122	0.0023	0.0099	0.0015	0.001191	31	26028	rs534908680	0.0022	0.0022	0.0021	0.0022	0.0047	0.0021	0.0021	0.0041	0.0039	0.0002	0.0001	0	0.0047	0.0107	0.0016	0.0018	0.0025	0.0023	0.0019	0.0019	0.0016	0.0022	0.0081	0.0017	0.0016	0.0062	0.0055	0.0004	0	0.0001	0	0.0081	0.0100	0	0.0016	0.0014	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1680.94	34	chr2	85350974	.	TA	T	1680.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=819;ExcessHet=0.0000;FS=1.538;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.89;ReadPosRankSum=0.099;SOR=0.540	GT:AD:DP:GQ:PL	0/1:61,60:121:99:1695,0,1685	20	0	1	0
chr2	94874110	94874110	T	G	splicing	TEKT4	NM_001286559:exon3:c.167+2T>G;NM_144705:exon3:c.713+2T>G	.	.	.	.	406	1070	44	2	0	48	0.0219378	1.0000	0.944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.317	13.70	2.24	0.779	4.740	8.014	.	.	.	.	0.0040	0.0040	0.0018	0.0039	0.0052	0.0040	0.0082	0.0048	0.0004995	13	26028	rs201662522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0210978	0.54528	T	-0.207471	0.53936	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.728960	0.53327	23.3	0.92961029893543212	0.22537	0.79885	0.39676	D	AEFDGBCI	.	.	.	0.522301970175972	0.68412	5.213453	0.198859362804565	0.49784	3.177611	0.997889277469928	0.36150	0.055872	0.00684	0	0.068659	0.01829	0	0.067067	0.01885	0	0.078985	0.02075	0	0.724399	0.43579	2.24	2.24	0.27264	2.478000	0.44848	6.975000	0.57104	0.334000	0.19664	1.000000	0.71638	1.000000	0.68203	0.087000	0.17632	0.0:0.0:0.0:1.0	8.014	0.29532	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	415.2	33	chr2	94874110	.	T	G	415.2	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-1.707e+00;DP=893;ExcessHet=1.7912;FS=3.157;InbreedingCoeff=-0.1724;MLEAC=6;MLEAF=0.143;MQ=58.57;MQRankSum=-7.504e+00;QD=1.07;ReadPosRankSum=2.48;SOR=0.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,4:57:9:0|1:94874110_T_G:9,0,1901:94874110	15	0	6	0
chr2	94874897	94874897	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon4:c.G289A:p.E97K	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.995	D	0.754	P	0.000	D	1.000	D	2.205	M	4.23	T	-0.969	T	0.014	T	0.646	3.231	16.83	2.19	1.235	2.507	10.056	0.178	.	0.0002	0.00359425	0.0022	0.0004	0	0.0289	0	1.882e-05	0.0015	0	0.0016365	253	154602	rs146551570	0.0004	0.0004	0.0005	0.0004	0.0129	0.0004	0.0004	0.0120	0.0116	2.992e-05	2.243e-05	0	0.0129	0	0.0004	3.419e-05	0.0014	4.665e-05	0.0008	0.0008	0.0008	0.0009	0.0205	0.0007	0.0007	0.0174	0.0162	0.0003	0	0	0	0.0205	0	0	4.41e-05	0.0014	0.0004	0.111	0.29029	T	0.057	0.46406	T	0.995	0.67487	D	0.754	0.56161	P	0.000024	0.55875	D	0.114840	0.999898	0.50595	D	2.78	0.81115	M	4.23	0.02616	T	-1.7	0.40468	N	0.499	0.53181	-0.9689	0.37427	T	0.014	0.05465	T	10	0.009892076	0.00222	T	.	.	.	0.178	0.44724	.	.	0.242244723065	0.23846	0.4057177004586829	0.40487	0.199548353779	0.22355	0.852362155914	0.89970	D	0.041576	0.25903	T	-0.0265426	0.47917	T	-0.275903	0.47222	T	0.0808243131481521	0.10092	T	0.932107	0.74696	D	0.37339312	0.58835	0.46540713	0.68976	0.37339312	0.58835	0.46540713	0.68977	-4.866	0.35351	T	.	.	0.087	0.11220	B	.	.	3.527687	0.49482	22.8	0.99799695607032235	0.88461	0.43557	0.27124	N	AEFDGBI	0.060055	0.11386	N	0.1198944824389	0.47392	2.965496	-0.0315150612501968	0.38298	2.254484	0.00560450431938268	0.10990	0.403107	0.06075	0	0.547309	0.14657	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	2.19	2.19	0.26890	1.247000	0.32417	7.175000	0.57735	0.338000	0.19717	0.933000	0.32380	1.000000	0.68203	0.190000	0.21601	0.0:0.0:1.0:0.0	10.056	0.41421	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025	648.33	34	chr2	94874897	.	G	A	648.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=2.10;DP=734;ExcessHet=0.0000;FS=0.962;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=10.29;ReadPosRankSum=-3.500e-02;SOR=0.672	GT:AD:DP:GQ:PL	0/1:36,27:63:99:662,0,793	19	0	1	1
chr2	94876587	94876587	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C580A:p.L194I	.	.	432	641	448	0	1	449	0.25896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.207	B	0.092	B	0.005	N	0.996	D	-0.23	N	4.47	T	-0.881	T	0.003	T	0.423	-1.806	0.009	1.05	1.049	-0.033	7.455	0.085	0.0024401301091	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74658435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.207	0.29891	B	0.092	0.30031	B	0.004769	0.33407	N	0.246841	0.99495	0.23405	N	0.755	0.19153	N	4.47	0.02084	T	0.82	0.01813	N	0.154	0.15888	-0.8811	0.49673	T	0.003	0.01026	T	10	0.04464045	0.03444	T	0.00244	0.04813	T	0.085	0.24743	0.341	0.33302	0.0716867268079	0.06686	0.19181908011527898	0.19099	0.0456283365019	0.04953	0.691997289658	0.65993	T	0.022278	0.17204	T	-0.227197	0.17020	T	-0.564129	0.15990	T	0.118842300974592	0.14317	T	0.485551	0.14815	T	0.08219759	0.18923	0.12475681	0.30067	0.08219759	0.18923	0.12475681	0.30067	-2.689	0.07211	T	.	.	0.085	0.10014	B	.	.	0.349679	0.07231	3.825	0.6655202341939721	0.08092	0.00372	0.01892	N	AEFDGBI	0.024577	0.01544	N	-1.14107701514534	0.05928	0.2715614	-1.13613817439115	0.07019	0.3399133	3.91639178412095E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	1.05	0.19280	-0.335000	0.07917	2.530000	0.33163	0.302000	0.18967	0.001000	0.13787	1.000000	0.68203	0.052000	0.15357	0.3227:0.6773:0.0:0.0	7.455	0.26431	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	8192.58	228	chr2	94876587	.	C	A	8192.58	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.040e-01;DP=4322;ExcessHet=17.4423;FS=7.871;InbreedingCoeff=-0.5628;MLEAC=15;MLEAF=0.357;MQ=58.06;MQRankSum=-1.627e+01;QD=2.09;ReadPosRankSum=-3.458e+00;SOR=1.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:237,50:287:99:0|1:94876587_C_A:1386,0,9687:94876587	6	0	15	0
chr2	94876618	94876618	C	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C611G:p.A204G	.	.	432	224	865	0	1	866	0.658797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.986	D	0.919	D	0.000	D	1.000	D	3.26	M	3.93	T	-1.109	T	0.045	T	0.571	3.511	17.94	2.43	1.049	4.806	10.548	0.223	0.00662812679854	.	.	.	.	.	.	.	.	.	.	0.0002781	43	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.026	0.55759	D	0.986	0.61523	D	0.919	0.65474	D	0.000066	0.52346	D	0.125962	0.999996	0.58761	D	3.695	0.94570	H	3.93	0.03435	T	-2.62	0.56301	D	0.22	0.24634	-1.1093	0.03130	T	0.045	0.19478	T	10	0.34525645	0.51502	T	0.006628	0.17501	T	0.223	0.52023	0.627	0.76254	0.325533332567	0.32158	0.46843450301837664	0.46762	0.206080854031	0.23033	0.606577515602	0.53832	T	0.278563	0.65122	T	-0.0817015	0.39437	T	-0.355135	0.38615	T	0.993828952312469	0.84790	D	0.723528	0.33695	T	0.19832417	0.41730	0.4733884	0.69475	0.19832417	0.41730	0.4733884	0.69476	-7.747	0.59334	D	.	.	0.123	0.25656	B	.	.	3.340079	0.46023	22.2	0.99465032145053101	0.65996	0.46731	0.27825	N	AEFDGBI	0.300572	0.40933	N	0.291003033652373	0.55691	3.733242	0.0724350553839575	0.43168	2.624199	0.878548229655452	0.25568	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	3.467000	0.52842	4.098000	0.41847	0.302000	0.18967	0.053000	0.21524	0.999000	0.35428	0.607000	0.31564	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.425	33671.17	300	chr2	94876618	.	C	G	33671.17	.	AC=17;AF=0.425;AN=40;BaseQRankSum=-2.098e+00;DP=6579;ExcessHet=25.1139;FS=1.453;InbreedingCoeff=-0.7143;MLEAC=18;MLEAF=0.450;MQ=57.19;MQRankSum=-1.858e+01;QD=5.73;ReadPosRankSum=-2.736e+00;SOR=0.866	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:294,112:406:99:0|1:94876587_C_A:3818,0,12008:94876587	3	0	17	1
chr2	94876632	94876632	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C625T:p.R209C	.	.	431	192	898	1	0	900	0.700935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.048	B	0.017	B	0.105	N	1.000	D	1.645	L	4.19	T	-0.957	T	0.009	T	0.649	1.193	9.848	1.05	1.049	0.077	6.095	0.180	0.00282003103799	.	.	0.0020	0.0044	0.0012	0.0058	0	0.0016	0.0025	0.0012	0.00073	19	26028	rs72817671	5.478e-06	9.577e-06	5.451e-06	5.507e-06	7.196e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	0	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.078	0.33923	T	0.094	0.39645	T	0.048	0.22112	B	0.017	0.18140	B	0.104906	0.19681	N	0.502966	0.998961	0.45775	D	2.51	0.73131	M	4.19	0.02716	T	-4.17	0.75456	D	0.327	0.36779	-0.9567	0.39789	T	0.009	0.03315	T	10	0.010076523	0.00226	T	0.00282	0.05898	T	0.180	0.45073	.	.	0.280181792013	0.27631	0.3283832477789456	0.32751	0.0418521914883	0.04503	0.566292226315	0.48154	T	0.161975	0.50645	T	-0.0952065	0.37216	T	-0.374534	0.36360	T	0.0299758459612643	0.01985	T	0.763824	0.39073	T	0.11296644	0.26684	0.099358894	0.23720	0.11296644	0.26684	0.099358894	0.23719	-7.259	0.55903	T	.	.	0.087	0.11414	B	.	.	2.884469	0.38179	20.7	0.9739629417086707	0.33750	0.03769	0.09084	N	AEFDGBI	0.024782	0.01590	N	-0.521150392773251	0.21396	1.135229	-0.512733045882346	0.21807	1.181449	3.92921537291663E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	1.05	0.19280	0.158000	0.16239	-0.300000	0.10122	0.302000	0.18967	0.046000	0.21249	0.000000	0.08366	0.706000	0.34326	0.5496:0.4504:0.0:0.0	6.095	0.19238	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.45	45706.22	343	chr2	94876632	.	C	T	45706.22	.	AC=18;AF=0.450;AN=40;BaseQRankSum=-3.939e+00;DP=7445;ExcessHet=30.0624;FS=0.645;InbreedingCoeff=-0.7872;MLEAC=19;MLEAF=0.475;MQ=56.72;MQRankSum=-1.920e+01;QD=6.73;ReadPosRankSum=-7.690e-01;SOR=0.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:301,148:449:99:0|1:94876587_C_A:5187,0,12125:94876587	2	0	18	1
chr2	94876671	94876671	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A664G:p.I222V	.	.	425	183	912	2	0	916	0.714509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.967	D	0.77	P	0.000	D	1.000	D	2.675	M	3.8	T	-1.154	T	0.035	T	0.579	2.768	15.22	2.43	0.866	3.036	8.354	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4524	58582.68	398	chr2	94876671	.	A	G	58582.68	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-7.281e+00;DP=8408;ExcessHet=36.0830;FS=0.633;InbreedingCoeff=-0.8261;MLEAC=19;MLEAF=0.452;MQ=56.56;MQRankSum=-2.037e+01;QD=7.10;ReadPosRankSum=4.57;SOR=0.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:350,180:530:99:0|1:94876671_A_G:6494,0,13998:94876671	2	0	19	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T	.	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.003	B	0.013	B	0.040	N	0.984	N	3.03	M	4.15	T	-0.940	T	0.013	T	0.4	0.667	7.574	-2.21	-0.321	0.130	6.926	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	0.4524	58619.68	400	chr2	94876674	.	G	A	58619.68	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-6.968e+00;DP=8442;ExcessHet=36.0830;FS=0.632;InbreedingCoeff=-0.8261;MLEAC=19;MLEAF=0.452;MQ=56.55;MQRankSum=-2.055e+01;QD=7.10;ReadPosRankSum=4.91;SOR=0.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:355,180:535:99:0|1:94876671_A_G:6479,0,14107:94876671	2	0	19	0
chr2	94876731	94876731	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C724T:p.R242C	.	.	422	173	925	2	0	929	0.728627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.572	P	0.148	B	0.002	N	1.000	D	1.87	L	4.11	T	-0.879	T	0.010	T	0.568	2.034	12.76	2.43	1.049	0.890	10.548	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	0.4048	26857.9	353	chr2	94876731	.	C	T	26857.9	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-2.609e+00;DP=7291;ExcessHet=25.1139;FS=3.279;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=57.21;MQRankSum=-2.034e+01;QD=3.85;ReadPosRankSum=-1.165e+00;SOR=0.996	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:367,131:498:99:.:.:3119,0,9258	4	0	17	0
chr2	94876737	94876737	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C730A:p.P244T	.	.	420	623	478	1	0	480	0.2781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	1.0	D	1.0	D	0.000	D	1.000	D	2.125	M	4.16	T	-1.119	T	0.028	T	0.662	3.703	18.81	2.43	1.049	3.135	10.548	0.305	0.00856323149497	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.49	0.72568	M	4.16	0.02791	T	-6.15	0.90178	D	0.449	0.48689	-1.1193	0.02376	T	0.028	0.11926	T	10	0.86077964	0.85296	D	0.008563	0.22631	T	0.305	0.62620	0.82	0.93328	0.439763647824	0.43599	0.7402352279972402	0.73968	0.238822044954	0.26437	0.431803226471	0.29455	T	0.211342	0.57208	T	-0.00288391	0.51258	T	-0.241919	0.50610	T	0.997360169887543	0.91383	D	0.868613	0.57103	D	0.468639	0.65206	0.43668678	0.67113	0.468639	0.65207	0.43668678	0.67113	-9.492	0.70809	D	.	.	0.247	0.48188	B	.	.	3.384766	0.46838	22.4	0.99756532367682871	0.84694	0.76429	0.37483	D	AEFDGBI	0.183688	0.31101	N	0.284556175349996	0.55366	3.700636	0.149238450167121	0.47101	2.945506	0.878548229655452	0.25568	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	3.367000	0.52075	5.126000	0.47622	0.302000	0.18967	1.000000	0.71638	1.000000	0.68203	0.409000	0.26983	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2857	9909.42	357	chr2	94876737	.	C	A	9909.42	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-2.994e+00;DP=5582;ExcessHet=9.6308;FS=1.817;InbreedingCoeff=-0.4000;MLEAC=12;MLEAF=0.286;MQ=56.98;MQRankSum=-1.456e+01;QD=2.02;ReadPosRankSum=-2.106e+00;SOR=0.954	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:436,59:495:99:0|1:94876737_C_A:1138,0,18083:94876737	9	0	12	0
chr2	94876740	94876740	A	C	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A733C:p.T245P	.	.	420	617	484	1	0	486	0.282558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.125	B	0.085	B	0.131	N	1.000	N	2.43	M	4.2	T	-0.996	T	0.012	T	0.464	1.473	10.87	1.2	0.866	-1.017	2.624	0.095	0.00171498663639	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.114	0.36765	T	0.125	0.26866	B	0.085	0.29395	B	0.131368	0.18625	N	0.557409	0.999999	0.08975	N	1.955	0.52871	M	4.2	0.02689	T	-3.07	0.63207	D	0.235	0.26475	-0.9960	0.31028	T	0.012	0.04558	T	10	0.1880475	0.34342	T	0.001715	0.02856	T	0.095	0.27398	0.692	0.82938	0.242825505644	0.23883	0.760572030042999	0.76005	0.0377657102004	0.04010	0.42577329278	0.28630	T	0.133664	0.46448	T	-0.179838	0.23760	T	-0.496102	0.22753	T	0.267470479011536	0.23639	T	0.608739	0.23025	T	0.12824208	0.29987	0.113306135	0.27344	0.12824208	0.29987	0.113306135	0.27344	-6.544	0.50625	T	.	.	0.070	0.03552	B	.	.	1.347397	0.17547	13.23	0.9830799806719418	0.40116	0.00645	0.02815	N	AEFDGBI	0.062337	0.11976	N	-0.575656789009934	0.19685	1.032239	-0.641925779952209	0.18420	0.9839579	4.74237286387209E-4	0.07095	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	1.2	0.20181	-0.628000	0.05611	0.633000	0.20247	0.373000	0.20310	0.000000	0.06391	0.002000	0.18203	0.392000	0.26603	0.5413:0.283:0.1757:0.0	2.624	0.04627	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2857	10071.42	352	chr2	94876740	.	A	C	10071.42	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-1.875e+00;DP=5568;ExcessHet=9.6308;FS=1.912;InbreedingCoeff=-0.4000;MLEAC=12;MLEAF=0.286;MQ=57.10;MQRankSum=-1.500e+01;QD=2.08;ReadPosRankSum=-2.492e+00;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:434,59:493:99:0|1:94876737_C_A:1144,0,17982:94876737	9	0	12	0
chr2	95152724	95152724	C	G	exonic	ZNF514	.	nonsynonymous SNV	ZNF514:NM_001318005:exon4:c.G386C:p.G129A	.	.	420	1095	6	1	0	8	0.00363967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.996	D	0.992	D	.	.	0.994	N	2.77	M	5.48	T	-1.066	T	0.014	T	0.14	1.991	12.62	2.64	1.479	0.085	8.852	0.073	0.0024547953876	.	0.000798722	0.0006	0	0.0002	0	0	0.0002	0.0033	0.0032	0.0005239	81	154602	rs150402017	0.0003	0.0003	0.0002	0.0004	0.0038	0.0003	0.0003	0.0033	0.0032	0.0002	6.708e-05	0	2.519e-05	0	0.0038	9.712e-05	0.0003	0.0037	0.0003	0.0003	0.0002	0.0003	0.0041	0.0002	0.0002	0.0027	0.0023	7.218e-05	0	0	0	0	0	0.0068	0.0002	0	0.0041	0.011	0.55530	D	0.076	0.42614	T	0.996	0.68779	D	0.992	0.80445	D	.	.	.	.	0.993668	0.23670	N	2.67	0.78151	M	5.48	0.00939	T	-4.25	0.76094	D	0.194	0.21319	-1.0655	0.10432	T	0.014	0.05608	T	9	0.008033723	0.00182	T	0.002455	0.04840	T	0.073	0.21317	.	.	0.529260826313	0.52574	0.0459931756812455	0.04543	0.194429881254	0.21783	0.249985530972	0.03766	T	0.196121	0.55240	T	-0.577589	0.00199	T	-0.604549	0.12431	T	0.152459502279626	0.17298	T	0.0153985	0.00087	T	0.27821246	0.50876	0.24464338	0.49935	0.27821246	0.50876	0.24464338	0.49934	-8.425	0.63931	D	.	.	0.293	0.52459	B	.;.	.;.	1.718054	0.21875	15.39	0.99375901566082558	0.61671	0.34949	0.25188	N	AEFBI	0.067182	0.13194	N	0.149185391558516	0.48774	3.085551	-0.0865050990825504	0.35948	2.085878	0.0298807620608008	0.13911	0.562547	0.31514	0	0.588066	0.40923	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	2.64	2.64	0.30504	0.199000	0.17037	0.337000	0.17343	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.176000	0.21171	0.0:1.0:0.0:0.0	8.852	0.34364	.	.	Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1034.98	39	chr2	95152724	.	C	G	1034.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.148;DP=796;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.58;ReadPosRankSum=2.27;SOR=0.667	GT:AD:DP:GQ:PL	0/1:63,45:108:99:1049,0,1609	20	0	1	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S,	.	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	.	.	.	.	.	.	1.000	N	1.32	L	2.56	T	-0.945	T	0.020	T	0.057	1.140	9.645	-5.28	-1.321	0.150	0.771	0.055	.	.	.	0.4725	0.4791	0.4803	0.4672	0.4880	0.4733	0.4644	0.4563	0.0898263	2338	26028	rs5005871	6.166e-06	8.414e-05	8.18e-06	4.132e-06	1.162e-05	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0002	0	0	0	1.162e-05	8.21e-05	0.0014	8.013e-05	8.417e-05	0.0001	4.669e-05	3.648e-05	4.891e-05	3.155e-05	0.0001	0	0.0001	0	0	0.0003	0	3.041e-05	0	0	0.015	0.52492	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-1.08	0.28084	N	0.033	0.00882	-0.9453	0.41764	T	0.020	0.08266	T	7	0.002589792	0.00039	T	.	.	.	0.055	0.15663	.	.	.	.	0.012446412429317067	0.01203	.	.	.	.	.	0.01031	0.09320	T	-0.355653	0.04382	T	-0.748648	0.03539	T	0.0108537478151246	0.00155	T	0.411359	0.10665	T	0.03944852	0.05450	0.041137557	0.04607	0.03944852	0.05449	0.041137557	0.04607	-4.418	0.29800	T	.	.	0.294	0.52491	B	.	.	0.798647	0.11694	8.273	0.5612225942636786	0.05485	0.02449	0.06892	N	AEFI	0.055298	0.10127	N	-1.21497369849486	0.04782	0.2165626	-1.43546346583335	0.02904	0.1344849	0.00116623651718095	0.08293	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.28	0.02543	0.547000	0.23007	-2.563000	0.03605	-0.638000	0.04459	0.451000	0.26573	0.000000	0.08366	0.008000	0.08271	0.3266:0.1273:0.3289:0.2173	0.771	0.00959	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	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	0.5	31056.74	205	chr2	95855390	.	T	C	31056.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.80;DP=5080;ExcessHet=54.0936;FS=20.631;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.44;MQRankSum=-1.119e+01;QD=6.32;ReadPosRankSum=-6.536e+00;SOR=2.000	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:192,67:259:99:0|1:95855390_T_C:1821,0,4988:95855390	0	0	21	0
chr2	95855406	95855406	C	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.G5953C:p.D1985H,	.	.	432	686	404	0	0	404	0.227477	.	.	679191	not_provided|Peritoneal_Gliomatosis	MedGen:C3661900|MedGen:C2938915	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.33	T	.	.	.	.	.	.	1.000	N	0.235	N	2.59	T	-0.942	T	0.018	T	0.062	0.675	7.614	-0.833	0.028	1.770	6.110	0.033	.	.	.	0.0207	0.0594	0.0264	0.0384	0.0257	0.0114	0.0158	0.0254	0.0092593	241	26028	rs77972623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.14793	T	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	1.92	0.00446	N	0.043	0.01577	-0.9422	0.42266	T	0.018	0.07282	T	7	0.0040079057	0.00077	T	.	.	.	0.033	0.08068	.	.	.	.	0.021892873855974753	0.02141	.	.	.	.	.	7.49E-4	0.00347	T	-0.353158	0.04532	T	-0.745064	0.03682	T	0.0110150628429415	0.00159	T	0.357964	0.08163	T	0.04395806	0.06944	0.059117828	0.11040	0.04395806	0.06944	0.059117828	0.11039	-2.163	0.03865	T	.	.	0.356	0.56978	A	.	.	1.452510	0.18737	13.90	0.61318576741591302	0.06679	0.06233	0.12222	N	AEFI	0.034264	0.04212	N	-0.644002368178195	0.17635	0.9091262	-0.743295799460967	0.15887	0.8377953	9.51251238247756E-6	0.01202	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-0.833	0.10237	1.509000	0.35387	1.837000	0.29159	0.284000	0.18682	1.000000	0.71638	0.009000	0.19889	0.063000	0.16184	0.1431:0.5616:0.2953:0.0	6.110	0.19319	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7228.38	236	chr2	95855406	.	C	G	7228.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=1.43;DP=5612;ExcessHet=17.4423;FS=6.424;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=53.45;MQRankSum=-6.363e+00;QD=1.79;ReadPosRankSum=-3.638e+00;SOR=1.400	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:243,44:287:99:0|1:95855390_T_C:544,0,9205:95855390	6	0	15	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	.	.	.	.	.	.	1.000	N	-0.55	N	2.62	T	-0.930	T	0.011	T	0.014	-2.217	0.005	-0.838	-0.224	0.602	6.069	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	.	.	.	.	.	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	0.5	75221.74	386	chr2	95855549	.	T	C	75221.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-4.304e+00;DP=7464;ExcessHet=54.0936;FS=12.010;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=44.23;MQRankSum=-1.248e+01;QD=10.32;ReadPosRankSum=0.574;SOR=1.209	GT:AD:DP:GQ:PL	0/1:183,177:360:99:4104,0,5006	0	0	21	0
chr2	95855576	95855576	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.T5783C:p.I1928T,	.	.	453	483	584	2	0	588	0.378378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	.	.	.	.	.	.	1.000	N	1.175	L	2.41	T	-1.026	T	0.039	T	0.224	1.957	12.50	2.11	1.218	0.837	8.115	0.016	.	.	.	0.0351	0.0714	0.0215	0.0369	0.0035	0.0411	0.0420	0.0134	0.0472952	1231	26028	rs5005868	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0003	8.988e-05	0	0	0	0	0	0.0004	0.0001	0	0.0001	0.0001	0.0002	8.079e-05	0.0002	8.674e-05	7.264e-05	0.0001	9.902e-05	0.0001	0	0	0	0	0	0	0.0002	0	0	0.061	0.37118	T	0.076	0.42614	T	.	.	.	.	.	.	.	.	.	.	0.999854	0.20048	N	.	.	.	2.41	0.15492	T	-2.88	0.60507	D	0.111	0.09772	-1.0255	0.21919	T	0.039	0.16634	T	7	0.0018533468	0.00025	T	.	.	.	0.016	0.02506	.	.	.	.	0.019306205368593718	0.01884	.	.	.	.	.	0.00751	0.06912	T	-0.24663	0.14515	T	-0.592043	0.13489	T	0.0121704833066968	0.00195	T	0.355564	0.08068	T	0.13378952	0.31107	0.17544822	0.40011	0.13378952	0.31107	0.17544822	0.40010	-5.456	0.41455	T	.	.	0.137	0.29914	B	.	.	2.390189	0.30693	18.52	0.99376893328488414	0.61715	0.31313	0.24306	N	AEFI	0.047864	0.08107	N	-0.41657885139222	0.24888	1.347055	-0.520845466279587	0.21587	1.168515	1.17212494177188E-4	0.05269	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	2.11	0.26299	1.107000	0.30724	-0.057000	0.12472	0.351000	0.19951	0.797000	0.29682	0.000000	0.08366	0.192000	0.21661	1.0:0.0:0.0:0.0	8.115	0.30096	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	63179.74	326	chr2	95855576	.	A	G	63179.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.434e+00;DP=6464;ExcessHet=54.0936;FS=27.969;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=46.08;MQRankSum=-1.255e+01;QD=10.07;ReadPosRankSum=-2.075e+00;SOR=1.916	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:186,121:307:99:.:.:3400,0,5211	0	0	21	0
chr2	95855586	95855586	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5773G:p.M1925V,	.	.	447	884	189	2	0	193	0.0984192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	.	.	.	.	.	.	1.000	N	0.625	N	2.59	T	-0.961	T	0.019	T	0.071	-0.386	2.186	-2.48	-0.579	0.734	3.442	0.035	0.000861707961223	.	.	0.0008	0.0001	0.0009	0.0002	0.0002	0.0014	0	0.0001	3.84e-05	1	26028	rs201192250	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.24758	T	0.137	0.33894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	-2.2	0.49519	N	0.124	0.11626	-0.9610	0.38993	T	0.019	0.07800	T	7	0.011997491	0.00260	T	8.62E-4	0.00755	T	0.035	0.08770	.	.	0.0806252709748	0.07271	0.015437605054057783	0.01499	.	.	.	.	.	0.004928	0.04354	T	-0.342361	0.05226	T	-0.729554	0.04347	T	0.0291781713714631	0.01865	T	0.515548	0.16619	T	0.11939599	0.28113	0.13833767	0.33041	0.11939599	0.28113	0.13833767	0.33040	-3.711	0.19481	T	.	.	0.227	0.45954	B	.	.	0.618436	0.09867	6.630	0.39056500088029883	0.02672	0.17497	0.19862	N	AEFI	0.042474	0.06596	N	-0.697976344310311	0.16079	0.8160669	-0.828039099870389	0.13816	0.7187932	1.99158050687805E-5	0.02871	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-2.48	0.06052	0.550000	0.23052	-0.005000	0.13145	0.312000	0.19173	0.994000	0.38300	0.000000	0.08366	0.117000	0.19042	0.3728:0.0:0.19:0.4372	3.442	0.07037	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8954.51	309	chr2	95855586	.	T	C	8954.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=0.765;DP=6041;ExcessHet=30.0624;FS=14.124;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=46.89;MQRankSum=-6.696e+00;QD=1.78;ReadPosRankSum=-2.125e+00;SOR=2.133	GT:AD:DP:GQ:PL	0/1:258,32:290:99:123,0,7755	3	0	18	0
chr2	95855588	95855588	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5771G:p.Q1924R,	.	.	449	591	480	2	0	484	0.290516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	.	.	.	.	.	.	1.000	N	0.67	N	2.4	T	-0.978	T	0.023	T	0.059	-0.264	2.731	0.82	0.218	1.729	2.541	0.035	.	.	.	0.0306	0.0658	0.0188	0.0337	0.0028	0.0359	0.0324	0.0111	0.0379591	988	26028	rs5005867	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.4	0.15608	T	-2.4	0.52776	N	0.054	0.02559	-0.9776	0.35548	T	0.023	0.09968	T	7	0.004524857	0.00093	T	.	.	.	0.035	0.08770	.	.	.	.	0.014319341971499302	0.01388	.	.	.	.	.	0.034191	0.23222	T	-0.342862	0.05192	T	-0.730274	0.04316	T	0.0218009842485075	0.00887	T	0.374863	0.08927	T	0.052712794	0.09870	0.11261669	0.27173	0.052712794	0.09870	0.11261669	0.27172	-5.986	0.46163	T	.	.	0.14	0.30686	B	.	.	1.453026	0.18743	13.90	0.88078949201552847	0.17700	0.32438	0.24585	N	AEFI	0.045481	0.07443	N	-0.542064366665841	0.20732	1.095167	-0.636773118221108	0.18551	0.9915041	9.62839158373236E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	0.82	0.17932	2.106000	0.41459	0.119000	0.14890	-0.667000	0.04321	1.000000	0.71638	0.000000	0.08366	0.084000	0.17470	0.0:0.1714:0.2923:0.5363	2.541	0.04438	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	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	49926.74	306	chr2	95855588	.	T	C	49926.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.094e+00;DP=5999;ExcessHet=54.0936;FS=32.611;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=47.18;MQRankSum=-1.171e+01;QD=8.52;ReadPosRankSum=-4.041e+00;SOR=2.245	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:186,105:291:99:.:.:2728,0,5314	0	0	21	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.0	B	0.0	B	.	.	1.000	N	0	N	2.33	T	-0.992	T	0.020	T	0.208	-0.096	3.531	1.85	1.110	0.669	7.648	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	.	.	.	.	.	.	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	0.3333	5668.45	83	chr2	95859895	.	T	C	5668.45	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.500e-02;DP=1947;ExcessHet=14.4320;FS=1.573;InbreedingCoeff=-0.4994;MLEAC=14;MLEAF=0.333;MQ=58.17;MQRankSum=-2.110e+00;QD=4.01;ReadPosRankSum=0.759;SOR=0.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:87,9:96:99:.:.:116,0,3586	7	0	14	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	28198.39	155	chr2	95859969	.	A	AT	28198.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.047e+00;DP=3277;ExcessHet=43.6797;FS=2.014;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.97;MQRankSum=-9.329e+00;QD=8.84;ReadPosRankSum=0.032;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,48:154:99:0|1:95859969_A_AT:1659,0,4249:95859969	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.053	B	0.021	B	.	.	0.994	N	-1.7	N	2.42	T	-0.981	T	0.008	T	0.245	-3.330	0.001	-3.7	-1.374	-0.833	3.712	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	.	.	.	.	.	.	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	0.4762	28168.43	155	chr2	95859970	.	G	T	28168.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.065;DP=3274;ExcessHet=43.6797;FS=2.014;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.99;MQRankSum=-9.404e+00;QD=8.80;ReadPosRankSum=0.078;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,48:156:99:0|1:95859969_A_AT:1653,0,4302:95859969	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.93	T	0.055	B	0.007	B	.	.	1.000	N	-1.355	N	2.42	T	-0.947	T	0.010	T	0.097	-0.493	1.736	0.634	0.138	0.540	5.605	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	.	.	.	.	.	.	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	0.4762	27722.43	155	chr2	95859975	.	C	T	27722.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.800e-02;DP=3242;ExcessHet=43.6797;FS=2.825;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.97;MQRankSum=-9.484e+00;QD=8.72;ReadPosRankSum=-1.190e-01;SOR=0.794	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,45:153:99:0|1:95859969_A_AT:1565,0,4297:95859969	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.618	P	0.296	B	.	.	1.000	P	0.345	N	2.35	T	-1.040	T	0.022	T	0.211	-0.948	0.346	1.85	1.110	0.027	3.593	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	.	.	.	.	.	.	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	0.4762	24477.43	159	chr2	95859988	.	T	C	24477.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.265;DP=3203;ExcessHet=43.6797;FS=2.880;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.88;MQRankSum=-9.614e+00;QD=7.83;ReadPosRankSum=-7.870e-01;SOR=0.923	GT:AD:DP:GQ:PL	0/1:99,42:141:99:1447,0,2590	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.898	P	0.775	P	.	.	1.000	P	1.965	M	2.2	T	-0.998	T	0.066	T	0.49	0.033	4.184	-0.873	-0.207	1.019	2.065	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	.	.	.	.	.	.	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	0.4762	17994.43	154	chr2	95860002	.	T	A	17994.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.989;DP=3061;ExcessHet=43.6797;FS=3.053;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.84;MQRankSum=-9.029e+00;QD=6.03;ReadPosRankSum=-1.082e+00;SOR=0.963	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:111,26:137:99:.:.:333,0,4291	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.886	P	0.685	P	.	.	1.000	P	1.1	L	2.36	T	-1.031	T	0.037	T	0.093	0.511	6.772	0.608	0.161	0.077	4.768	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	.	.	.	.	.	.	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	0.4762	21658.43	153	chr2	95860007	.	A	T	21658.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=1.16;DP=2998;ExcessHet=43.6797;FS=3.057;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.82;MQRankSum=-8.906e+00;QD=7.38;ReadPosRankSum=-1.059e+00;SOR=1.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:97,35:132:99:.:.:1179,0,2530	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.0	B	0.0	B	.	.	1.000	P	-1.385	N	2.38	T	-0.937	T	0.010	T	0.175	-3.138	0.001	0.635	0.138	3.039	5.605	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	18382.43	145	chr2	95860020	.	G	A	18382.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.556;DP=2780;ExcessHet=43.6797;FS=4.214;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.76;MQRankSum=-8.652e+00;QD=6.86;ReadPosRankSum=-1.267e+00;SOR=1.096	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,30:128:99:0|1:95860020_G_A:965,0,3963:95860020	1	0	20	0
chr2	95860023	95860023	A	C	exonic	ANKRD36C	.	stopgain	ANKRD36C:NM_001310154:exon82:c.T4832G:p.L1611X,	.	.	975	348	147	52	0	251	0.265048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	.	.	.	.	.	.	0.000	P	.	.	.	.	.	.	.	.	.	15.302	49	-0.698	-0.207	0.666	5.748	.	.	.	.	0.3459	0.4102	0.4378	0.4239	0.1587	0.3478	0.2957	0.3558	0.0004226	11	26028	rs74941794	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.64576e-15	0.58761	P	.	.	.	.	.	.	.	.	.	0.039	0.01274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464733	0.93127	D	0.429781	0.93041	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.440231	0.90928	32	0.96148246009950666	0.28859	0.36954	0.25651	N	AEFI	0.088588	0.17958	N	-0.131946649004641	0.36007	2.075519	-0.471627380579264	0.22940	1.248476	9.52799824835323E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.698	0.10713	0.445000	0.21392	-0.434000	0.09203	-1.250000	0.01303	0.993000	0.37899	0.000000	0.08366	0.002000	0.04165	0.6458:0.0:0.3542:0.0	5.748	0.17400	256	0.89942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	17446.43	144	chr2	95860023	.	A	C	17446.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=1.97;DP=2699;ExcessHet=43.6797;FS=5.438;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.71;MQRankSum=-8.809e+00;QD=6.58;ReadPosRankSum=-1.356e+00;SOR=1.196	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,30:128:99:0|1:95860020_G_A:965,0,3963:95860020	1	0	20	0
chr2	95860046	95860046	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4809T:p.K1603N,	.	.	996	348	132	46	0	224	0.243478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.0	B	.	.	1.000	P	-1.59	N	2.33	T	-0.964	T	0.008	T	0.055	-3.899	0.001	-2.51	-0.641	0.852	0.839	0.027	.	.	.	0.2995	0.4068	0.4155	0.3993	0.0859	0.3214	0.2411	0.2818	0.0869064	2262	26028	rs79908880	2.159e-06	4.789e-06	1.421e-06	2.916e-06	3.19e-05	5.8e-07	1.6e-07	3.1e-07	1.2e-07	3.19e-05	0	0	0	0	0	1.863e-06	0	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0	0.767	0.03412	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	.	.	.	2.33	0.16492	T	1.87	0.00472	N	0.043	0.01577	-0.9644	0.38330	T	0.008	0.02842	T	8	0.0017981231	0.00024	T	.	.	.	0.027	0.05988	0.388	0.40951	.	.	0.009782736317217211	0.00940	.	.	0.538346886635	0.44213	T	0.002324	0.01720	T	-0.380822	0.03079	T	-0.784801	0.02311	T	0.00124196999210505	0.00012	T	0.263374	0.04265	T	0.04313465	0.06669	0.036235157	0.03030	0.04313465	0.06669	0.036235157	0.03030	-0.766	0.00774	T	.	.	0.068	0.02639	B	.	.	-0.084979	0.03731	0.770	0.10447506845337422	0.00132	0.00336	0.01748	N	AEFI	0.012014	0.00120	N	-2.28437407882715	0.00049	0.002118662	-2.21407410585182	0.00104	0.004576006	2.08611004689468E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	-2.51	0.05996	1.202000	0.31878	0.062000	0.14145	-1.184000	0.01383	0.735000	0.28974	0.000000	0.08366	0.000000	0.00833	0.4851:0.195:0.1314:0.1885	0.839	0.01073	256	0.89942	.	.	.	.	.	.	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	0.4762	11608.43	114	chr2	95860046	.	C	A	11608.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.094;DP=2166;ExcessHet=43.6797;FS=7.428;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.39;MQRankSum=-9.225e+00;QD=5.60;ReadPosRankSum=-1.053e+00;SOR=1.366	GT:AD:DP:GQ:PL	0/1:69,20:89:99:633,0,2004	1	0	20	0
chr2	95927222	95927222	-	AT	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon28:c.1930_1931insAT:p.S644Yfs*24,	.	.	585	748	183	6	0	195	0.115316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs745741068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	19293.39	162	chr2	95927222	.	G	GAT	19293.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=2.91;DP=3244;ExcessHet=43.6797;FS=41.935;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=54.80;MQRankSum=-9.777e+00;QD=6.04;ReadPosRankSum=-5.428e+00;SOR=4.455	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,31:147:99:0|1:95927222_G_GAT:953,0,4778:95927222	1	0	20	0
chr2	95927227	95927228	TT	-	exonic	ANKRD36C	.	frameshift deletion	ANKRD36C:NM_001310154:exon28:c.1925_1926del:p.Q642Pfs*18,	.	.	630	694	193	5	0	203	0.127593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs772059065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	28849.39	181	chr2	95927226	.	GTT	G	28849.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=3.24;DP=3663;ExcessHet=43.6797;FS=12.728;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=54.66;MQRankSum=-1.068e+01;QD=7.97;ReadPosRankSum=-5.292e+00;SOR=1.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,41:170:99:0|1:95927222_G_GAT:1333,0,5293:95927222	1	0	20	0
chr2	95927234	95927234	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.A1919G:p.E640G,	.	.	638	673	206	5	0	216	0.138284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	.	.	1.000	N	2.045	M	-1.11	T	-0.526	T	0.427	T	0.17	0.495	6.683	0.578	0.482	1.675	.	0.149	0.00618498349042	.	.	0.0012	0.0016	0.0011	0.0019	0.0005	0.0013	0	0.0007	3.84e-05	1	26028	rs758839836	6.856e-07	6.84e-07	1.364e-06	0	9.007e-07	0	0	.	.	0	0	0	0	0	0	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.11	0.77466	T	-0.39	0.13611	N	0.176	0.18920	-0.5261	0.67688	T	0.427	0.77022	T	6	0.03557104	0.01812	T	0.006185	0.16200	T	0.149	0.39377	.	.	0.42989457901	0.42608	0.007308549639332476	0.00696	.	.	.	.	.	0.003258	0.02667	T	-0.0875605	0.38480	T	-0.363551	0.37640	T	0.0366356248361039	0.03091	T	0.168983	0.05631	T	0.062684655	0.13118	0.16541363	0.38267	0.062684655	0.13117	0.16541363	0.38267	-4.184	0.26519	T	.	.	0.130	0.27998	B	.;.	.;.	2.279132	0.29141	18.03	0.9497533031407277	0.25908	0.01715	0.05438	N	AEFBI	0.033788	0.04074	N	-0.603271583609637	0.18846	0.9816864	-0.856632057968517	0.13128	0.6793434	1.06943366512053E-5	0.01202	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	1.624000	0.36629	-0.363000	0.09661	0.319000	0.19345	0.008000	0.17931	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	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	0.4762	39187.43	200	chr2	95927234	.	T	C	39187.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.176e+00;DP=4058;ExcessHet=43.6797;FS=7.313;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=54.37;MQRankSum=-1.145e+01;QD=9.76;ReadPosRankSum=-5.766e+00;SOR=1.238	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,58:194:99:0|1:95927222_G_GAT:2026,0,5536:95927222	1	0	20	0
chr2	95927252	95927252	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.T1901C:p.I634T,	.	.	674	623	216	9	0	234	0.158108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	.	.	.	.	.	.	1.000	N	2.175	M	-1.08	T	-0.803	T	0.326	T	0.253	0.721	7.838	-1.16	-0.580	0.588	.	0.194	.	.	.	0.0825	0.1113	0.0839	0.1182	0.1114	0.0793	0.0608	0.0544	3.84e-05	1	26028	rs111976783	2.057e-06	2.052e-06	2.729e-06	1.378e-06	6.728e-05	5.5e-07	1.5e-07	1.784e-05	8.95e-06	0	6.728e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.194	0.28120	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.08	0.77078	T	-0.99	0.26200	N	0.069	0.17278	-0.8026	0.54991	T	0.326	0.69410	T	6	0.0039491355	0.00076	T	.	.	.	0.194	0.47447	.	.	.	.	0.0049901546743311475	0.00471	.	.	.	.	.	0.003965	0.03373	T	-0.0895306	0.38154	T	-0.366381	0.37311	T	0.00782888568937778	0.00092	T	0.441356	0.12522	T	0.056561366	0.11145	0.12979923	0.31201	0.056561366	0.11144	0.12979923	0.31200	-5.925	0.50163	T	.	.	0.180	0.48715	B	.;.	.;.	1.251398	0.16483	12.57	0.92565402419728915	0.22018	0.00377	0.01912	N	AEFBI	0.031745	0.03455	N	-0.892394221719867	0.11022	0.5297326	-1.14952198102138	0.06776	0.3273419	1.22801436175958E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	-1.16	0.09181	0.550000	0.23052	-1.428000	0.05463	0.359000	0.20063	0.011000	0.18532	0.000000	0.08366	0.036000	0.13842	.	.	.	253	0.90069	.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	71909.43	290	chr2	95927252	.	A	G	71909.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-5.880e-01;DP=5309;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=53.50;MQRankSum=-1.377e+01;QD=13.66;ReadPosRankSum=-5.061e+00;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:165,107:272:99:0|1:95927222_G_GAT:3996,0,6606:95927222	1	0	20	0
chr2	95927268	95927268	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1885T:p.D629Y,	.	.	676	613	224	9	0	242	0.16485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	N	2.175	M	-1.1	T	-0.487	T	0.446	T	0.443	1.148	9.675	0.578	0.573	0.559	.	0.333	.	.	.	0.0990	0.1443	0.0896	0.1297	0.1231	0.0957	0.0823	0.0698	0.0779227	12047	154602	rs79307257	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.596e-06	6.571e-06	0	1.351e-05	1.477e-05	0	0	.	.	0	0	0	0	0	0	0	1.477e-05	0	0	0.001	0.78490	D	0.026	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.1	0.77336	T	-1.9	0.44284	N	0.173	0.51315	-0.4874	0.69100	T	0.446	0.78240	T	6	0.0048143566	0.00102	T	.	.	.	0.333	0.65522	.	.	.	.	0.012629181598714094	0.01221	.	.	.	.	.	0.007056	0.06479	T	-0.00641558	0.50765	T	-0.246992	0.50114	T	0.852545201778412	0.50387	D	0.59994	0.27277	T	0.11685397	0.27556	0.18900135	0.42222	0.11685397	0.27555	0.18900135	0.42221	-8.156	0.62848	D	.	.	0.178	0.50389	B	.;.	.;.	2.735108	0.35810	20.0	0.94629422228171811	0.25216	0.01477	0.04919	N	AEFBI	0.029319	0.02744	N	-0.591855003156469	0.19190	1.00245	-0.847697327138236	0.13343	0.6916549	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.534000	0.22807	0.568000	0.19578	0.291000	0.18778	0.021000	0.19753	0.000000	0.08366	0.005000	0.06747	.	.	.	253	0.90069	.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	99348.43	354	chr2	95927268	.	C	A	99348.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-5.669e+00;DP=6340;ExcessHet=43.6797;FS=3.258;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=52.67;MQRankSum=-1.545e+01;QD=15.78;ReadPosRankSum=-3.350e+00;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:180,162:342:99:0|1:95927222_G_GAT:6128,0,7030:95927222	1	0	20	0
chr2	95927277	95927277	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1876A:p.D626N,	.	.	672	616	225	9	0	243	0.164746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	.	.	.	.	.	.	1.000	P	2.135	M	-1.07	T	-0.030	T	0.463	T	0.042	2.046	12.80	0.578	0.573	1.620	.	0.172	.	.	.	0.0982	0.1425	0.0884	0.1290	0.1219	0.0951	0.0815	0.0693	0.0779679	12054	154602	rs75189823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.07	0.76948	T	-0.32	0.12283	N	0.045	0.10626	-0.0304	0.81622	T	0.463	0.79190	T	5	0.0036658943	0.00067	T	.	.	.	0.172	0.43662	.	.	.	.	0.0029834670744068	0.00278	.	.	.	.	.	0.001745	0.01167	T	-0.214699	0.18721	T	-0.546177	0.17695	T	0.0182863330978625	0.00547	T	0.726827	0.34112	T	0.056939475	0.11268	0.071558535	0.15336	0.056939475	0.11268	0.071558535	0.15336	-7.104	0.55237	T	.	.	0.131	0.35560	B	.;.	.;.	2.171628	0.27671	17.54	0.99663125085786775	0.78074	0.02072	0.06171	N	AEFBI	0.036161	0.04774	N	-0.595262529696858	0.19088	0.996275	-0.85090525598683	0.13266	0.6872205	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.528000	0.22711	-1.180000	0.06099	0.291000	0.18778	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	100976.43	370	chr2	95927277	.	C	T	100976.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-6.195e+00;DP=6692;ExcessHet=43.6797;FS=2.488;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=52.63;MQRankSum=-1.581e+01;QD=15.46;ReadPosRankSum=-7.660e-01;SOR=0.502	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:191,169:360:99:0|1:95927222_G_GAT:6268,0,7269:95927222	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	P	.	.	-1.41	T	-0.324	T	0.401	T	0.195	1.779	11.91	0.871	0.621	1.851	3.983	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	0.4762	41574.43	202	chr2	95929092	.	T	C	41574.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.846;DP=3927;ExcessHet=43.6797;FS=3.785;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=47.18;MQRankSum=-9.680e+00;QD=10.76;ReadPosRankSum=-3.033e+00;SOR=1.064	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,69:198:99:0|1:95929092_T_C:2387,0,5123:95929092	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	.	.	.	.	.	.	1.000	N	.	.	-1.17	T	-0.746	T	0.297	T	0.219	0.645	7.463	-0.637	-0.224	0.734	2.815	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	.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	51819.43	236	chr2	95929110	.	A	G	51819.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=9.99;DP=4508;ExcessHet=43.6797;FS=8.254;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=45.41;MQRankSum=-9.797e+00;QD=11.60;ReadPosRankSum=-2.111e+00;SOR=1.293	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,80:221:99:0|1:95929092_T_C:2935,0,5659:95929092	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	.	.	1.000	N	.	.	-0.96	T	-0.705	T	0.302	T	0.375	1.013	9.136	0.871	0.742	0.666	5.051	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	0.4762	67411.43	272	chr2	95929126	.	C	A	67411.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=3.03;DP=5235;ExcessHet=43.6797;FS=15.425;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=44.20;MQRankSum=-1.062e+01;QD=12.98;ReadPosRankSum=-1.058e+00;SOR=1.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,115:272:99:0|1:95929092_T_C:4356,0,6246:95929092	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	.	.	-0.99	T	-0.983	T	0.120	T	0.057	0.583	7.149	-0.054	-0.059	0.169	4.774	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	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	71752.43	282	chr2	95929130	.	G	C	71752.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=5.49;DP=5406;ExcessHet=43.6797;FS=17.088;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=43.89;MQRankSum=-1.053e+01;QD=13.38;ReadPosRankSum=-8.420e-01;SOR=1.695	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,124:285:99:0|1:95929092_T_C:4722,0,6387:95929092	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	.	.	.	.	.	.	1.000	N	.	.	-1.0	T	-0.975	T	0.178	T	0.032	1.786	11.93	-0.087	-0.070	0.689	3.151	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	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	75077.43	291	chr2	95929135	.	C	T	75077.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=6.83;DP=5658;ExcessHet=43.6797;FS=16.868;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=43.43;MQRankSum=-1.046e+01;QD=13.67;ReadPosRankSum=-5.410e-01;SOR=1.771	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,130:292:99:0|1:95929092_T_C:4944,0,6384:95929092	1	0	20	0
chr2	96344170	96344170	A	G	exonic	NCAPH	.	nonsynonymous SNV	NCAPH:NM_001281712:exon5:c.A253G:p.R85G	.	.	.	.	.	.	.	.	.	.	.	720015	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.16	T	0.0	B	0.002	B	0.000	D	0.841	N	0.895	L	0.97	T	-1.061	T	0.044	T	0.418	2.601	14.66	5.43	2.203	8.683	13.770	0.182	.	0.0002	0.00758786	0.0033	0.0004	0.0002	0.0429	0	4.502e-05	0	0.0010	0.0029495	456	154602	rs117616494	0.0009	0.0009	0.0009	0.0009	0.0259	0.0008	0.0008	0.0246	0.0241	0	6.738e-05	0	0.0259	0	0.0007	4.497e-06	0.0022	0.0011	0.0015	0.0015	0.0013	0.0017	0.0383	0.0013	0.0013	0.0340	0.0323	0.0002	0	0.0002	0	0.0383	0	0	4.409e-05	0.0014	0.0019	0.027	0.48186	D	0.007	0.69154	D	0.0	0.02946	B	0.001	0.06944	B	0.000069	0.52346	D	0.196757	0.841095	0.28629	N	1.355	0.33814	L	0.97	0.42502	T	-1.59	0.49846	N	0.231	0.26475	-1.0606	0.11607	T	0.044	0.18865	T	10	0.009615779	0.00217	T	.	.	.	0.182	0.45420	.	.	0.557481709393	0.55408	0.2397740635951329	0.23891	0.236685424056	0.26210	0.326104640961	0.14345	T	0.032864	0.22669	T	-0.416261	0.01808	T	-0.332721	0.41166	T	0.0362234048814784	0.03020	T	0.845015	0.52437	T	0.14431234	0.33130	0.15251815	0.35880	0.122409135	0.28766	0.16507943	0.38208	-6.381	0.55875	T	0.2722857973245426	0.36610	0.143	0.34470	B	.;.;.;.	.;.;.;.	3.494496	0.48858	22.7	0.99298247253037342	0.58541	0.98085	0.79471	D	ALL	0.921211	0.89435	D	-0.0498374788452909	0.39610	2.33862	0.117665741803105	0.45454	2.808154	1.0	0.98316	0.730579	0.87903	0	0.749866	0.99406	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.43	5.43	0.79006	9.103000	0.93586	9.305000	0.79908	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.420000	0.27228	1.0:0.0:0.0:0.0	13.770	0.62506	289	0.88525	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	961.98	34	chr2	96344170	.	A	G	961.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.580e+00;DP=797;ExcessHet=0.0000;FS=2.695;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.13;ReadPosRankSum=1.22;SOR=1.038	GT:AD:DP:GQ:PL	0/1:50,45:95:99:976,0,1247	20	0	1	0
chr2	96839560	96839560	T	G	exonic	ANKRD23	.	nonsynonymous SNV	ANKRD23:NM_144994:exon9:c.A907C:p.T303P,	.	.	415	1103	2	2	0	6	0.00271248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.966	D	0.804	P	0.150	U	1.000	D	0.695	N	-0.19	T	-1.125	T	0.004	T	0.484	4.724	26.3	5.28	2.216	1.777	11.519	0.131	.	.	0.0297524	0.0308	0.0014	0.0014	0.2180	0	0.0004	0.0263	0.0030	0.0052457	811	154602	rs74826568	0.0038	0.0037	0.0038	0.0037	0.1225	0.0037	0.0037	0.1194	0.1182	0.0003	0.0009	0	0.1225	0.0002	0.0003	3.848e-05	0.0064	0.0026	0.0054	0.0054	0.0045	0.0063	0.1418	0.0051	0.0050	0.1333	0.1299	0.0008	0	0.0007	0	0.1418	9.425e-05	0	5.884e-05	0.0052	0.0060	0.003	0.68238	D	0.011	0.64786	D	0.895	0.56202	P	0.368	0.58350	B	0.150258	0.17992	U	0.400420	0.820231	0.35377	D	1.61	0.41143	L	-0.39	0.69158	T	-0.03	0.12472	N	0.25	0.32148	-1.1249	0.02043	T	0.004	0.01365	T	10	0.0027197897	0.00042	T	.	.	.	0.131	0.35738	.	.	.	.	0.4121415988440924	0.41130	0.641846917885	0.57762	0.465603768826	0.34078	T	0.008345	0.07671	T	-0.432211	0.01437	T	-0.249797	0.49838	T	0.0224292232449353	0.00958	T	0.455554	0.13039	T	0.14771564	0.33756	0.22626257	0.47599	0.14771564	0.33755	0.22626257	0.47598	-3.346	0.14338	T	.	.	0.105	0.20819	B	.;.;.	.;.;.	2.861779	0.37813	20.6	0.99508411730336055	0.68499	0.41833	0.26745	N	ALL	0.313650	0.41874	N	0.126669442487198	0.47710	2.992883	0.150056702216517	0.47145	2.949171	0.999999999864316	0.74766	0.536635	0.22144	0	0.57239	0.20480	2	0.489635	0.07774	0	0.645665	0.59343	0	.	.	5.28	5.28	0.74118	1.245000	0.32393	3.260000	0.37085	0.665000	0.62972	0.102000	0.22834	1.000000	0.68203	0.695000	0.33988	0.0:0.0:0.0:1.0	11.519	0.49789	122	0.95130	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1659.11	34	chr2	96839560	.	T	G	1659.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.439;DP=751;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=0.152;SOR=0.658	GT:AD:DP:GQ:PL	0/1:12,27:39:99:684,0,268	19	0	2	0
chr2	96861753	96861753	C	T	exonic	SEMA4C	.	nonsynonymous SNV	SEMA4C:NM_017789:exon13:c.G1585A:p.V529M,	.	.	0	1517	4	1	0	6	0.00197368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.808	P	0.381	B	0.087	N	1.000	N	1.63	L	2.26	T	-1.043	T	0.000	T	0.092	3.370	17.36	-0.075	-0.187	0.609	2.442	0.071	.	7.7e-05	0.0255591	0.0104	0.0008	0.0023	0.1344	0.0002	0.0001	0.0044	0.0025	0.0095988	1484	154602	rs79331914	0.0041	0.0041	0.0042	0.0040	0.1325	0.0040	0.0040	0.1295	0.1283	0.0003	0.0019	0	0.1325	0.0002	0.0002	4.676e-05	0.0062	0.0026	0.0056	0.0056	0.0048	0.0064	0.1456	0.0053	0.0051	0.1370	0.1336	0.0008	0	0.0009	0	0.1456	9.409e-05	0	7.35e-05	0.0047	0.0060	0.113	0.28772	T	0.06	0.45744	T	0.782	0.44333	P	0.381	0.43873	B	0.087278	0.20542	N	0.301246	1	0.08975	N	1.545	0.39105	L	2.26	0.17596	T	-1.03	0.27052	N	0.212	0.23632	-1.0429	0.16443	T	0.000	0.00152	T	10	0.0016003549	0.00019	T	.	.	.	0.071	0.20720	.	.	.	.	0.28134716411572486	0.28047	0.370578501582	0.38572	0.328716754913	0.14739	T	0.109574	0.42356	T	-0.737038	0.00022	T	-0.687661	0.06525	T	0.0269984998289952	0.01544	T	0.777122	0.41012	T	0.034205157	0.03795	0.040132686	0.04266	0.034205157	0.03794	0.040132686	0.04266	-5.785	0.44443	T	.	.	0.104	0.18869	B	.	.	2.480262	0.31981	18.91	0.99516421188153981	0.68979	0.08037	0.14014	N	AEFBCI	0.034359	0.04242	N	-0.4963082972307	0.22201	1.183795	-0.623397178375814	0.18893	1.01128	0.98834267626621	0.31485	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.06	-0.0749	0.13062	0.370000	0.20166	-0.071000	0.12298	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.584000	0.30992	0.1034:0.3398:0.3042:0.2525	2.442	0.04223	115	0.95340	PSI domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2049.11	34	chr2	96861753	.	C	T	2049.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.24;DP=880;ExcessHet=0.1072;FS=0.551;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.14;ReadPosRankSum=1.39;SOR=0.620	GT:AD:DP:GQ:PL	0/1:58,58:116:99:1492,0,1438	19	0	2	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	8326.47	128	chr2	97185336	.	GC	G	8326.47	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-1.019e+00;DP=2996;ExcessHet=30.0624;FS=4.061;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=47.34;MQRankSum=-5.879e+00;QD=3.14;ReadPosRankSum=0.218;SOR=0.380	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,24:143:99:1|0:97185332_A_G:650,0,4906:97185332	3	0	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	3.980	20.4	-2.12	-0.664	0.022	1.483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4286	8253.51	130	chr2	97185340	.	C	G	8253.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-6.260e-01;DP=3017;ExcessHet=30.0624;FS=4.061;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=47.09;MQRankSum=-5.804e+00;QD=3.07;ReadPosRankSum=0.809;SOR=0.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,25:150:99:1|0:97185332_A_G:673,0,5173:97185332	3	0	18	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	8208.47	129	chr2	97185341	.	A	AG	8208.47	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-5.080e-01;DP=3032;ExcessHet=30.0624;FS=4.061;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=47.00;MQRankSum=-5.688e+00;QD=3.04;ReadPosRankSum=0.926;SOR=0.382	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,25:150:99:1|0:97185332_A_G:673,0,5173:97185332	3	0	18	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8186.47	138	chr2	97185345	.	GTAAT	G	8186.47	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-8.550e-01;DP=3160;ExcessHet=30.0624;FS=4.006;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=46.27;MQRankSum=-5.168e+00;QD=2.89;ReadPosRankSum=1.92;SOR=0.394	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,26:155:99:1|0:97185332_A_G:703,0,5338:97185332	3	0	18	0
chr2	97513220	97513220	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2765T:p.A922V,	.	.	613	640	247	22	0	291	0.185232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0963	0.0850	0.0216	0.0100	0.3296	0.0294	0.1310	0.0097	0.0001921	5	26028	rs80135902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.031	0.15888	.	.	.	.	.	.	.	0.0024380386	0.00036	T	.	.	.	.	.	.	.	.	.	0.0030564260149934064	0.00284	.	.	0.613379478455	0.54794	T	0.007581	0.06977	T	-0.0927998	0.37613	T	-0.371077	0.36763	T	.	.	.	0.352565	0.07917	T	0.017845605	0.00308	0.067346	0.13920	0.017845605	0.00308	0.067346	0.13919	-1.943	0.02973	T	.	.	0.108	0.23709	B	.;.;.	.;.;.	0.756607	0.11265	7.891	0.24358559582250291	0.01073	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	1.16123222590643E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.0495094	0.09020	1.25	-0.477	0.11493	0.374000	0.20232	-0.021000	0.12925	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7908:0.0:0.2092:0.0	4.611	0.11791	243	0.90483	.;.;.	.	.	.	.	.	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	0.5	66907.47	297	chr2	97513220	.	G	A	66907.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-8.080e-01;DP=4067;ExcessHet=51.1880;FS=3.353;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=36.93;MQRankSum=-3.978e+00;QD=16.47;ReadPosRankSum=0.728;SOR=0.964	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,89:152:99:0|1:97513219_T_C:3547,0,2377:97513219	0	0	20	1
chr2	97513227	97513227	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2758G:p.K920E,	.	.	611	640	249	22	0	293	0.186268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0214	0.0529	0.0036	0	0.0702	0.0066	0.0682	0.0028	3.84e-05	1	26028	rs79390266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05707	T	0.544	0.37968	P	0.044	0.24394	B	.	.	.	.	.	.	.	1.445	0.36358	L	.	.	.	.	.	.	0.12	0.33250	.	.	.	.	.	.	.	0.0055945516	0.00124	T	.	.	.	.	.	.	.	0.168933306366	0.16529	0.003989330973675759	0.00373	.	.	0.735671639442	0.72336	T	0.033889	0.23100	T	-0.112291	0.34391	T	-0.399074	0.33492	T	.	.	.	0.369363	0.08678	T	0.05957855	0.12126	0.07929396	0.17837	0.05957855	0.12126	0.07929396	0.17837	-5.258	0.39526	T	.	.	0.142	0.33086	B	.;.;.	.;.;.	1.364301	0.17734	13.34	0.46228864402172176	0.03687	0.02246	0.06510	N	AEFI	.	.	.	.	.	.	.	.	.	4.68263816856013E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.103977	0.22772	1.25	1.25	0.20475	-0.034000	0.12176	-6.769000	0.01311	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	6.615	0.21965	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	72691.47	317	chr2	97513227	.	T	C	72691.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-1.090e-01;DP=4346;ExcessHet=51.1880;FS=3.354;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.18;MQRankSum=-4.153e+00;QD=17.02;ReadPosRankSum=0.711;SOR=0.962	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,96:164:99:0|1:97513219_T_C:3786,0,2546:97513219	0	0	20	1
chr2	97513244	97513244	G	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2741A:p.P914Q,	.	.	595	624	272	31	0	334	0.211125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0143	0	0	0	0.0016	0	0	3.84e-05	1	26028	rs79527710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.10391	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-1.445	0.00556	N	.	.	.	.	.	.	0.188	0.27435	.	.	.	.	.	.	.	0.0063654184	0.00144	T	.	.	.	.	.	.	.	0.320256813643	0.31633	0.004245720093313631	0.00398	.	.	0.703683018684	0.67677	T	0.006209	0.05647	T	-0.125373	0.32247	T	-0.417866	0.31321	T	.	.	.	0.315568	0.06252	T	0.023773897	0.01146	0.07268516	0.15708	0.023773897	0.01146	0.07268516	0.15708	0.674	0.00180	T	.	.	0.102	0.17827	B	.;.;.	.;.;.	-0.119120	0.03530	0.672	0.19522481671669692	0.00662	0.00471	0.02257	N	AEFI	.	.	.	.	.	.	.	.	.	1.11447686844719E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0495094	0.09020	1.25	-0.0318	0.13235	0.839000	0.27239	1.716000	0.28228	-0.610000	0.04588	0.997000	0.40164	0.949000	0.28973	0.001000	0.02609	0.2806:0.0:0.2874:0.432	2.311	0.03930	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	88962.47	372	chr2	97513244	.	G	T	88962.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-1.332e+00;DP=4960;ExcessHet=51.1880;FS=2.480;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.54;MQRankSum=-4.334e+00;QD=17.98;ReadPosRankSum=0.505;SOR=0.892	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,109:186:99:0|1:97513244_G_T:4345,0,2865:97513244	0	0	20	1
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	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	94248.47	391	chr2	97513253	.	A	G	94248.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-2.477e+00;DP=5204;ExcessHet=51.1880;FS=3.201;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.63;MQRankSum=-4.517e+00;QD=18.31;ReadPosRankSum=-7.500e-02;SOR=0.940	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,117:197:99:0|1:97513244_G_T:4672,0,3007:97513244	0	0	20	1
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	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	94578.47	389	chr2	97513254	.	C	T	94578.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-2.107e+00;DP=5218;ExcessHet=51.1880;FS=3.233;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.64;MQRankSum=-4.596e+00;QD=18.37;ReadPosRankSum=8.000e-03;SOR=0.948	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,117:197:99:0|1:97513244_G_T:4672,0,3007:97513244	0	0	20	1
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	.;.;.	.	.	.	.	.	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	0.5	103442.47	407	chr2	97513268	.	C	T	103442.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-9.430e-01;DP=5451;ExcessHet=51.1880;FS=3.211;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.99;MQRankSum=-5.011e+00;QD=19.09;ReadPosRankSum=-6.100e-01;SOR=0.929	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,117:201:99:0|1:97513268_C_T:4639,0,3175:97513268	0	0	20	1
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	.;.;.	.	.	.	.	.	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	0.5	89883.47	410	chr2	97513270	.	A	C	89883.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-5.910e-01;DP=5493;ExcessHet=51.1880;FS=3.209;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=38.11;MQRankSum=-4.823e+00;QD=16.38;ReadPosRankSum=-7.770e-01;SOR=0.939	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,119:203:99:0|1:97513268_C_T:4688,0,3169:97513268	0	0	20	1
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	.;.;.	.	.	.	.	.	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	0.5	104689.47	413	chr2	97513271	.	T	C	104689.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-5.750e-01;DP=5492;ExcessHet=51.1880;FS=3.187;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=38.14;MQRankSum=-5.077e+00;QD=19.08;ReadPosRankSum=-6.500e-01;SOR=0.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,118:202:99:0|1:97513268_C_T:4666,0,3172:97513268	0	0	20	1
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	.;.;.	.	.	.	.	.	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	0.5	105794.47	411	chr2	97513281	.	C	T	105794.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-1.198e+00;DP=5582;ExcessHet=51.1880;FS=2.445;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=38.48;MQRankSum=-5.580e+00;QD=19.09;ReadPosRankSum=-8.110e-01;SOR=0.890	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,121:205:99:0|1:97513268_C_T:4696,0,3143:97513268	0	0	20	1
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	.;.;.	.	.	.	.	.	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	0.5	27196.47	224	chr2	97513354	.	T	C	27196.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=1.66;DP=3353;ExcessHet=51.1880;FS=1.191;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=39.44;MQRankSum=-3.474e+00;QD=8.44;ReadPosRankSum=0.663;SOR=0.624	GT:AD:DP:GQ:PL	0/1:74,50:124:99:1100,0,1827	0	0	20	1
chr2	97757299	97757299	G	A	exonic	TMEM131	.	nonsynonymous SNV	TMEM131:NM_015348:exon41:c.C5452T:p.P1818S,	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.976	D	0.797	P	0.000	D	1.000	D	0.895	L	1.29	T	-1.048	T	0.129	T	0.563	3.682	18.71	5.34	2.783	5.547	19.231	0.128	0.00847291676707	.	0.000399361	0.0003	0	0	0	0	1.499e-05	0	0.0021	0.0002458	38	154602	rs199691225	0.0002	0.0002	9.257e-05	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	2.987e-05	0	0	2.519e-05	0	0.0003	1.259e-05	0.0002	0.0027	7.226e-05	7.218e-05	2.57e-05	0.0001	0.0019	3.97e-05	3.126e-05	0.0010	0.0007	0	0	6.535e-05	0	0	0	0	1.47e-05	0	0.0019	0.123	0.27544	T	0.331	0.18505	T	0.911	0.50336	P	0.311	0.41430	B	0.000000	0.84330	D	0.053112	0.999697	0.48338	D	1.04	0.26193	L	1.29	0.35775	T	-1.62	0.38924	N	0.259	0.29313	-1.0479	0.14988	T	0.129	0.43726	T	10	0.01375708	0.00291	T	0.008473	0.22407	T	0.128	0.35103	0.243	0.17677	0.043077524339	0.03247	0.42773947119723416	0.42690	0.767015281994	0.64561	0.530368685722	0.43086	T	0.030507	0.21607	T	-0.379642	0.03132	T	-0.323963	0.42138	T	0.070930227637291	0.08781	T	0.847515	0.52873	T	0.12634112	0.29595	0.17081289	0.39218	0.12634112	0.29595	0.17081289	0.39217	-3.571	0.17438	T	.	.	0.112	0.21877	B	.	.	3.823922	0.55237	23.6	0.99883688236942314	0.95892	0.95943	0.66827	D	AEFDGBI	0.397151	0.47334	N	0.320211085772663	0.57188	3.885121	0.351080248905525	0.58572	4.028609	0.999999954536894	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.34	5.34	0.75982	5.539000	0.66909	9.930000	0.82573	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.862000	0.40904	0.0:0.0:1.0:0.0	19.231	0.93826	456	0.79013	.	.	.	.	.	.	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	0.02381	1280.98	34	chr2	97757299	.	G	A	1280.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.30;DP=791;ExcessHet=0.0000;FS=5.399;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.08;ReadPosRankSum=0.622;SOR=0.330	GT:AD:DP:GQ:PL	0/1:41,50:91:99:1295,0,981	20	0	1	0
chr2	97792455	97792455	C	T	exonic	TMEM131	.	nonsynonymous SNV	TMEM131:NM_015348:exon31:c.G4075A:p.D1359N,	.	.	428	1084	10	0	0	10	0.00459137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.826	P	0.157	B	0.001	N	0.000	P	1.735	L	2.14	T	-1.008	T	0.000	T	0.056	4.155	21.5	5.11	2.873	5.550	16.828	0.122	.	0.0004	0.0325479	0.0140	0.0014	0.0007	0.1511	0	0.0002	0.0035	0.0207	0.0123349	1907	154602	rs75972274	0.0055	0.0055	0.0051	0.0059	0.1467	0.0054	0.0053	0.1436	0.1423	0.0004	0.0002	3.834e-05	0.1467	0	0.0028	9.896e-05	0.0067	0.0188	0.0062	0.0063	0.0050	0.0075	0.1477	0.0059	0.0058	0.1390	0.1355	0.0010	0	0.0005	0.0003	0.1477	0	0	0.0001	0.0014	0.0256	0.004	0.65419	D	0.044	0.49663	D	0.826	0.45919	P	0.157	0.34536	B	0.001468	0.38917	N	0.305164	8.39516e-06	0.58761	P	1.955	0.52871	M	2.14	0.19450	T	-1.36	0.33798	N	0.118	0.10769	-1.0083	0.27448	T	0.000	0.00039	T	9	0.0014384389	0.00016	T	.	.	.	0.122	0.33800	.	.	.	.	0.2210515435222665	0.22020	0.226351178264	0.25190	0.478938817978	0.35910	T	0.014362	0.12243	T	-0.678437	0.00049	T	-0.605027	0.12392	T	0.019673624114104	0.00670	T	0.925008	0.72455	D	0.12665689	0.29659	0.11204181	0.27031	0.12665689	0.29659	0.11204181	0.27030	-3.701	0.19333	T	.	.	0.122	0.25331	B	.	.	4.134765	0.61898	24.4	0.99896599639781924	0.96971	0.99096	0.91166	D	AEFDBI	0.670411	0.63750	D	0.399895532990248	0.61418	4.342494	0.503368609192814	0.68216	5.189607	0.999996703599458	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.04	5.11	0.69188	5.624000	0.67440	4.811000	0.45042	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.8717:0.1283:0.0	16.828	0.85800	459	0.78817	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2522.98	35	chr2	97792455	.	C	T	2522.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.170;DP=922;ExcessHet=0.0000;FS=1.712;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=1.96;SOR=0.613	GT:AD:DP:GQ:PL	0/1:93,109:202:99:2537,0,2022	20	0	1	0
chr2	98312294	98312294	C	T	exonic	VWA3B	.	nonsynonymous SNV	VWA3B:NM_001345864:exon22:c.C2801T:p.T934I	.	.	427	1060	35	0	0	35	0.0162413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.261	B	0.094	B	.	.	1.000	N	0.55	N	3.33	T	-0.944	T	0.002	T	0.159	1.030	9.208	1.25	0.262	0.195	9.877	0.067	.	0.0048	0.0129792	0.0115	0.0006	0.0036	0.0503	0.0153	0.0094	0.0078	0.0106	0.0111836	1729	154602	rs2271038	0.0098	0.0098	0.0096	0.0100	0.0573	0.0097	0.0096	0.0554	0.0546	0.0008	0.0048	0.0036	0.0573	0.0130	0.0121	0.0084	0.0087	0.0125	0.0075	0.0075	0.0067	0.0083	0.0493	0.0071	0.0070	0.0444	0.0424	0.0010	0	0.0057	0.0049	0.0493	0.0118	0.0034	0.0080	0.0066	0.0112	0.072	0.34982	T	0.533	0.11371	T	0.261	0.31520	B	0.094	0.30180	B	.	.	.	.	1	0.08975	N	1.245	0.31408	L	3.33	0.06138	T	-0.53	0.16393	N	0.096	0.07673	-0.9435	0.42057	T	0.002	0.00556	T	9	0.0029001534	0.00046	T	.	.	.	0.067	0.19503	.	.	.	.	0.13017953049751194	0.12942	0.0882361222215	0.09970	0.298939734697	0.10243	T	0.001721	0.01148	T	-0.652809	0.00070	T	-0.667996	0.07738	T	0.0027483472469388	0.00029	T	0.49475	0.15329	T	0.028671041	0.02240	0.04810641	0.07073	0.034224115	0.03797	0.04810641	0.07073	-4.321	0.29435	T	.	.	0.101	0.23605	B	.;.	.;.	0.346239	0.07195	3.786	0.94490893941064569	0.24956	0.06785	0.12808	N	AEFDGBCI	0.045352	0.07407	N	-0.997441856833061	0.08659	0.4068055	-1.04821465623484	0.08744	0.4314253	0.013013184112008	0.12404	0.497415	0.19182	0	0.563428	0.19063	0	0.48864	0.07692	0	0.542086	0.14980	0	.	.	4.28	1.25	0.20475	0.293000	0.18785	-0.402000	0.09404	-0.223000	0.07921	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5643:0.4357:0.0:0.0	9.877	0.40380	434	0.80536	.;.	.	.	.	.	.	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	0.04762	3416.11	36	chr2	98312294	.	C	T	3416.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.255;DP=994;ExcessHet=0.1072;FS=4.228;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=1.60;SOR=0.952	GT:AD:DP:GQ:PL	0/1:64,81:145:99:2239,0,1691	19	0	2	0
chr2	99649641	99649641	C	T	exonic	AFF3	.	nonsynonymous SNV	AFF3:NM_001025108:exon12:c.G1244A:p.R415H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.037	B	0.012	B	0.012	N	0.692	N	1.1	L	-0.49	T	-0.870	T	0.183	T	0.249	2.198	13.31	3.05	0.319	1.550	3.461	0.025	0.0153999551851	.	0.000199681	2.477e-05	0	0	0.0001	0	3.003e-05	0	0	2.59e-05	4	154602	rs201587401	1.505e-05	1.505e-05	1.497e-05	1.513e-05	3.479e-05	9.85e-06	8.41e-06	1.012e-05	8.35e-06	2.987e-05	0	0	0	0	0	1.619e-05	0	3.479e-05	4.599e-05	4.594e-05	2.571e-05	6.719e-05	0.0004	2.109e-05	1.527e-05	6.823e-05	2.855e-05	2.408e-05	0	0	0	0.0004	9.439e-05	0	2.941e-05	0	0.0002	0.136	0.28148	T	0.071	0.43531	T	0.004	0.12183	B	0.005	0.11217	B	0.011704	0.29430	N	0.160493	0.691655	0.33332	D	1.78	0.46185	L	-0.49	0.70365	T	-1.92	0.44657	N	0.25	0.28498	-0.8700	0.50529	T	0.183	0.53057	T	10	0.051447153	0.05028	T	0.015	0.36109	T	0.025	0.05312	.	.	0.267718591433	0.26370	0.20134429808803234	0.20051	.	.	0.241370677948	0.02915	T	0.090614	0.38623	T	-0.230174	0.16626	T	-0.386878	0.34916	T	0.132688969373703	0.15629	T	0.769523	0.39899	T	0.03564387	0.04233	0.04352287	0.05435	0.03564387	0.04233	0.04352287	0.05435	-3.359	0.14510	T	.	.	0.066	0.02313	B	.;.;.	.;.;.	1.489832	0.19165	14.12	0.99127311549820907	0.53169	0.55017	0.29759	D	AEFBIJ	0.139942	0.26171	N	-0.297881529120325	0.29230	1.619138	-0.146545948717349	0.33541	1.919721	0.39397691986396	0.20072	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	6.07	3.05	0.34272	1.589000	0.36253	1.099000	0.24051	0.599000	0.40250	0.928000	0.32210	0.742000	0.26489	0.597000	0.31313	0.2012:0.5685:0.0:0.2302	3.461	0.07099	255	0.89985	.;.;.	.	.	.	.	.	Uncertain significance	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	0.02381	605.98	35	chr2	99649641	.	C	T	605.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.300e-01;DP=726;ExcessHet=0.0000;FS=1.271;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.15;ReadPosRankSum=0.227;SOR=0.495	GT:AD:DP:GQ:PL	0/1:14,26:40:99:620,0,289	20	0	1	0
chr2	104855597	104855599	TGG	-	exonic	POU3F3	.	nonframeshift deletion	POU3F3:NM_006236:exon1:c.87_89del:p.G43del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1201129679	1.435e-05	0.0006	6.706e-06	2.315e-05	0.0003	7.65e-06	6.04e-06	6.64e-06	4.84e-06	0	0	0	0.0003	0	0	1.314e-05	0	5.351e-05	1.027e-05	0.0003	1.99e-05	0	2.102e-05	0	0	.	.	0	0	0	0	0	0	0	2.102e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	52.02	11	chr2	104855596	.	CTGG	C	52.02	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.190e-01;DP=277;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0298;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.50;ReadPosRankSum=2.10;SOR=0.307	GT:AD:DP:GQ:PL	0/1:6,2:8:66:66,0,205	20	0	1	0
chr2	104855597	104855597	T	0	exonic	POU3F3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	4762.41	11	chr2	104855597	.	T	C,*	4762.41	.	AC=25,1;AF=0.658,0.026;AN=38;BaseQRankSum=-6.230e-01;DP=340;ExcessHet=0.0665;FS=7.060;InbreedingCoeff=0.2714;MLEAC=26,1;MLEAF=0.684,0.026;MQ=60.00;MQRankSum=0.00;QD=16.71;ReadPosRankSum=0.298;SOR=0.767	GT:AD:DP:GQ:PL	1/2:0,6,2:8:66:244,84,66,170,0,205	3	9	6	2
chr2	107872592	107872592	A	C	exonic	RGPD4	.	nonsynonymous SNV	RGPD4:NM_182588:exon20:c.A4588C:p.T1530P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.07	B	0.021	B	.	.	0.971	N	1.085	L	0.95	T	-1.026	T	0.068	T	0.061	-0.705	0.956	1.05	0.129	1.267	3.319	0.043	.	.	0.00479233	0.0064	0.0008	0.0642	0.0009	0	0.0002	0.0038	0.0004	0.0038804	101	26028	rs2556257	0.0020	0.0020	0.0022	0.0018	0.0526	0.0019	0.0019	0.0509	0.0501	0.0009	0.0526	3.832e-05	0.0005	0	0	0.0003	0.0022	0.0005	0.0044	0.0050	0.0035	0.0053	0.0413	0.0041	0.0040	0.0385	0.0374	0.0009	0	0.0413	0	0.0004	0	0	0.0001	0.0026	0.0002	0.143	0.25355	T	0.216	0.26226	T	0.07	0.23866	B	0.021	0.19346	B	.	.	.	.	0.971051	0.25673	N	1.7	0.43825	L	0.95	0.43279	T	-2.01	0.46337	N	0.088	0.06587	-1.0263	0.21658	T	0.068	0.27811	T	9	0.0028708577	0.00046	T	.	.	.	0.043	0.11576	.	.	0.128392430309	0.12331	0.021733653155509985	0.02125	.	.	0.545857310295	0.45273	T	0.006799	0.06227	T	-0.639432	0.00084	T	-0.652546	0.08776	T	0.0120693119659838	0.00191	T	0.424058	0.11326	T	0.22810344	0.45524	0.17820194	0.40474	0.22810344	0.45524	0.17820194	0.40473	-3.586	0.17654	T	.	.	0.089	0.12228	B	.	.	3.017090	0.40364	21.2	0.7981406839661167	0.12913	0.76704	0.37640	D	AEFI	0.418860	0.48632	N	-0.622636893062919	0.18265	0.9469035	-0.586219813235158	0.19851	1.066981	3.42095844534844E-5	0.03775	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	2.33	1.05	0.19280	1.264000	0.32618	4.157000	0.42186	0.333000	0.19617	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.5927:0.2603:0.1469:0.0	3.319	0.06630	963	0.08280	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1208.98	34	chr2	107872592	.	A	C	1208.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.524e+00;DP=902;ExcessHet=0.0000;FS=2.203;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=34.28;MQRankSum=-3.030e-01;QD=13.74;ReadPosRankSum=-1.630e-01;SOR=0.429	GT:AD:DP:GQ:PL	0/1:45,43:88:99:1223,0,1318	20	0	1	0
chr2	109574715	109574715	C	T	exonic	SEPTIN10	.	nonsynonymous SNV	SEPTIN10:NM_001321496:exon3:c.G67A:p.E23K	.	.	443	1070	9	0	0	9	0.00418799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	1.0	D	0.000	D	1.000	D	2.61	M	1.04	T	-0.476	T	0.237	T	0.874	4.715	26.2	4.92	2.721	7.171	18.655	0.452	.	0.0079	0.00319489	0.0074	0.0015	0.0034	0	0.0041	0.0115	0.0089	0.0024	0.0075872	1173	154602	rs56280142	0.0099	0.0100	0.0102	0.0096	0.0118	0.0098	0.0097	0.0116	0.0115	0.0021	0.0046	0.0033	0	0.0044	0.0016	0.0118	0.0098	0.0024	0.0070	0.0071	0.0076	0.0065	0.0121	0.0067	0.0066	0.0115	0.0112	0.0018	0.0033	0.0064	0.0023	0.0002	0.0033	0	0.0121	0.0076	0.0019	0.002	0.72154	D	0.037	0.51737	D	1.0	0.90584	D	1.0	0.97372	D	0.000003	0.62929	D	0.000000	1	0.81001	D	2.325	0.66631	M	1.04	0.40218	T	-3.73	0.70920	D	0.878	0.89242	-0.4762	0.69505	T	0.237	0.60379	T	10	0.0148302615	0.00311	T	.	.	.	0.452	0.75211	.	.	0.548654159409	0.54520	0.7608236543847126	0.76030	0.0798289916536	0.08984	0.713564693928	0.69109	T	0.100593	0.56684	T	-0.0886846	0.38293	T	0.112808	0.77760	D	0.0190241587016355	0.00611	T	0.994923	0.98273	D	0.7392324	0.80248	0.6930075	0.81931	0.7392324	0.80250	0.6930075	0.81932	-11.464	0.82606	D	.	.	0.764	0.81684	P	.;.;.;.;.	.;.;.;.;.	5.431848	0.90826	31	0.99936162702868503	0.99621	0.98299	0.81395	D	AEFBI	0.894792	0.83415	D	0.771259504642246	0.84280	8.244096	0.702637427663195	0.82578	7.802059	0.999999999986378	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.92	4.92	0.64147	7.568000	0.81546	7.597000	0.61435	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.945000	0.48827	0.0:1.0:0.0:0.0	18.655	0.91408	793	0.45818	Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;.;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain	SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10|SEPT10	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Hypothalamus|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Minor_Salivary_Gland|Muscle_Skeletal|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Thyroid	.	.	rs56280142	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	907.98	34	chr2	109574715	.	C	T	907.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.580e-01;DP=794;ExcessHet=0.0000;FS=1.583;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.18;ReadPosRankSum=-1.792e+00;SOR=0.503	GT:AD:DP:GQ:PL	0/1:68,43:111:99:922,0,1731	20	0	1	0
chr2	112391058	112391058	C	T	exonic	RGPD5;RGPD8	.	nonsynonymous SNV	RGPD8:NM_001164463:exon19:c.G2614A:p.G872S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.978	D	0.62	P	.	.	1.000	D	2.045	M	1.29	T	-0.963	T	0.119	T	0.287	2.702	14.99	2.33	1.309	7.093	10.392	0.202	0.00666933285046	.	.	3.472e-05	0	8.856e-05	0	0	3.171e-05	0.0012	0	3.84e-05	1	26028	rs748654524	1.808e-05	3.215e-05	1.108e-05	2.516e-05	2.366e-05	1.258e-05	1.069e-05	1.015e-05	8.37e-06	0	2.286e-05	0	0	0	0	1.624e-05	8.371e-05	2.366e-05	6.876e-06	6.638e-06	1.337e-05	0	1.512e-05	0	0	.	.	0	0	0	0	0	0	0	1.512e-05	0	0	0.007	0.91255	D	0.077	0.42436	T	0.978	0.58756	D	0.62	0.51382	P	.	.	.	.	0.699366	0.33405	D	0.975	0.24501	L	1.29	0.35775	T	-3.89	0.72820	D	0.424	0.57775	-0.9626	0.38684	T	0.119	0.41778	T	9	0.24993882	0.42313	T	0.006669	0.17614	T	0.202	0.48754	0.232	0.16005	0.0611884634855	0.05136	0.10548426489928843	0.10478	.	.	0.885774075985	0.94724	D	0.079986	0.36257	T	-0.0899978	0.38077	T	-0.367052	0.37232	T	0.303536191152721	0.25150	T	0.860614	0.57812	D	0.46284014	0.64847	0.40005717	0.64552	0.46284014	0.64848	0.40005717	0.64552	-3.013	0.10321	T	.	.	0.144	0.46654	B	.;.	.;.	4.095984	0.61034	24.3	0.99667297120434595	0.78330	0.93605	0.58675	D	AEFI	0.727120	0.67556	D	0.218173865589614	0.52082	3.384563	0.11236604995511	0.45179	2.785786	0.0199886404206837	0.13215	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	2.33	2.33	0.27981	7.234000	0.77597	5.912000	0.51036	0.282000	0.18639	1.000000	0.71638	1.000000	0.68203	0.876000	0.41813	0.0:1.0:0.0:0.0	10.392	0.43358	916	0.20744	.;.	.	.	.	.	.	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	0.02381	1151.98	33	chr2	112391058	.	C	T	1151.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.850e-01;DP=889;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=43.54;MQRankSum=-2.416e+00;QD=5.73;ReadPosRankSum=1.17;SOR=0.651	GT:AD:DP:GQ:PL	0/1:135,66:201:99:1166,0,3050	20	0	1	0
chr2	130120179	130120179	T	0	exonic	POTEF	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	88519.64	228	chr2	130120179	.	T	C,*	88519.64	.	AC=26,1;AF=0.619,0.024;AN=42;BaseQRankSum=-4.490e-01;DP=4771;ExcessHet=0.1361;FS=7.097;InbreedingCoeff=0.2741;MLEAC=26,1;MLEAF=0.619,0.024;MQ=44.81;MQRankSum=-1.564e+01;QD=20.24;ReadPosRankSum=1.33;SOR=1.210	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:205,148,0:353:99:.:.:3393,0,5201,4007,5645,9652	4	10	6	0
chr2	132784935	132784935	A	G	exonic	NCKAP5	.	nonsynonymous SNV	NCKAP5:NM_207363:exon14:c.T1876C:p.S626P,	.	.	439	1073	10	0	0	10	0.00463822	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.42	B	0.197	B	0.255	U	1.000	N	0.975	L	0.84	T	-1.009	T	0.095	T	0.271	0.631	7.392	1.95	0.562	0.714	8.598	0.076	0.012434163557	8.3e-05	0.000998403	0.0011	0.0001	0	0.0005	0	0.0004	0	0.0081	0.0009185	142	154602	rs201000665	0.0005	0.0005	0.0004	0.0007	0.0063	0.0005	0.0005	0.0058	0.0057	6.085e-05	0.0002	0	0.0005	0	0.0018	0.0002	0.0005	0.0063	0.0006	0.0006	0.0003	0.0009	0.0067	0.0005	0.0005	0.0048	0.0042	4.814e-05	0	0.0025	0	0.0002	0	0.0034	0.0003	0.0005	0.0067	0.011	0.55530	D	0.099	0.38891	T	0.42	0.35330	B	0.197	0.36707	B	0.254944	0.15432	U	0.466067	1	0.18198	N	2.155	0.60227	M	0.84	0.47477	T	-1.7	0.40468	N	0.186	0.20262	-1.0094	0.27105	T	0.095	0.35791	T	10	0.0037727058	0.00070	T	0.012434	0.30996	T	0.076	0.22200	.	.	0.082315109003	0.07666	0.076513547544345	0.07587	0.0490270278888	0.05361	0.30133664608	0.10600	T	0.005112	0.04549	T	-0.481841	0.00721	T	-0.462988	0.26274	T	0.0273570029385819	0.01594	T	0.50265	0.15781	T	0.20821725	0.43051	0.24029279	0.49400	0.20821725	0.43051	0.24029279	0.49399	-3.727	0.19717	T	.	.	0.078	0.07036	B	.;.	.;.	0.716596	0.10854	7.532	0.98996354087645733	0.50044	0.13105	0.17666	N	AEFBI	0.166332	0.29291	N	-0.618814560407376	0.18379	0.9537493	-0.674466003117495	0.17600	0.9365959	3.57138190330216E-4	0.06668	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.64	1.95	0.25130	1.188000	0.31711	.	.	0.751000	0.87719	0.131000	0.23362	0.007000	0.19602	0.113000	0.18872	0.7842:0.0:0.2158:0.0	8.598	0.32887	976	0.04745	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3338.98	130	chr2	132784935	.	A	G	3338.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.088e+00;DP=2495;ExcessHet=0.0000;FS=2.513;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.98;ReadPosRankSum=1.73;SOR=0.547	GT:AD:DP:GQ:PL	0/1:167,137:304:99:3353,0,4475	20	0	1	0
chr2	135265569	135265569	A	C	exonic	ZRANB3	.	nonsynonymous SNV	ZRANB3:NM_001286568:exon12:c.T1504G:p.S502A	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.004	B	0.006	B	0.669	N	1.000	N	1.525	L	-2.68	D	-0.545	T	0.572	D	0.069	0.688	7.674	3.45	1.004	0.325	3.937	0.158	0.0271821012149	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1443190639	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	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.532	0.06980	T	0.602	0.07894	T	0.004	0.12183	B	0.006	0.12133	B	0.668735	0.06023	N	1.144480	1	0.08975	N	1.735	0.44892	L	-2.7	0.90509	D	-0.08	0.08809	N	0.11	0.12198	-0.5451	0.66971	T	0.572	0.84522	D	10	0.05913219	0.07060	T	0.027182	0.50018	D	0.158	0.41098	0.304	0.27325	0.443797312901	0.43999	0.10863758391276568	0.10792	0.0419156279231	0.04509	0.277381718159	0.07130	T	0.01092	0.09804	T	-0.110508	0.34684	T	-0.396513	0.33790	T	0.0397439022881959	0.03644	T	0.480052	0.14697	T	0.051664222	0.09523	0.0405935	0.04423	0.051664222	0.09522	0.0405935	0.04422	-4.423	0.30692	T	.	.	0.069	0.04806	B	.;.;.	.;.;.	1.626376	0.20771	14.90	0.96769597036488242	0.31031	0.16462	0.19400	N	AEFBI	0.104635	0.20930	N	-0.555411652191397	0.20314	1.069972	-0.46399180319436	0.23153	1.26118	0.00177814595438482	0.08872	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.574951	0.34960	1	.	.	5.83	3.45	0.38602	0.466000	0.21731	3.075000	0.36216	0.756000	0.94297	0.317000	0.25476	0.987000	0.30940	0.989000	0.64315	0.413:0.3967:0.1904:0.0	3.937	0.08807	822	0.40702	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1838.98	33	chr2	135265569	.	A	C	1838.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.256;DP=860;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=0.467;SOR=0.658	GT:AD:DP:GQ:PL	0/1:90,81:171:99:1853,0,2105	20	0	1	0
chr2	151379533	151379533	A	-	exonic	TNFAIP6	.	nonframeshift deletion	TNFAIP6:NM_007115:exon6:c.834delA:p.X278X,	.	.	840	267	190	178	47	593	0.505556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	7392.52	39	chr2	151379531	.	TAA	TA,T,TAAA	7392.52	.	AC=24,2,2;AF=0.571,0.048,0.048;AN=42;BaseQRankSum=0.116;DP=709;ExcessHet=6.1794;FS=0.000;InbreedingCoeff=-0.2796;MLEAC=24,2,2;MLEAF=0.571,0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=0.839;SOR=0.651	GT:AD:DP:GQ:PL	0/1:10,8,0,0:18:99:141,0,188,171,212,383,171,212,383,383	1	6	10	0
chr2	151379533	151379533	-	A	exonic	TNFAIP6	.	nonframeshift insertion	TNFAIP6:NM_007115:exon6:c.834dupA:p.X278delinsX,	.	.	840	267	190	178	47	593	0.505556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	7392.52	39	chr2	151379531	.	TAA	TA,T,TAAA	7392.52	.	AC=24,2,2;AF=0.571,0.048,0.048;AN=42;BaseQRankSum=0.116;DP=709;ExcessHet=6.1794;FS=0.000;InbreedingCoeff=-0.2796;MLEAC=24,2,2;MLEAF=0.571,0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=0.839;SOR=0.651	GT:AD:DP:GQ:PL	0/1:10,8,0,0:18:99:141,0,188,171,212,383,171,212,383,383	1	6	10	0
chr2	157321525	157321525	C	G	exonic	ERMN	.	nonsynonymous SNV	ERMN:NM_001304346:exon3:c.G541C:p.V181L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.753	P	0.241	B	0.000	D	1.000	N	1.04	L	.	.	-1.008	T	0.064	T	0.589	2.522	14.39	4.94	1.467	2.498	9.504	0.194	0.00202641819198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0035	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.206e-05	2.239e-05	0	7.6e-05	0	0	0.0002	0.0002	5.858e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.591	0.16134	T	0.753	0.43334	P	0.241	0.38645	B	0.000353	0.45440	D	0.096119	0.825017	0.28834	N	2.39	0.68882	M	.	.	.	-2.33	0.51646	N	0.32	0.63713	-1.0082	0.27479	T	0.064	0.26667	T	9	0.2529603	0.42657	T	0.002026	0.03668	T	0.194	0.47447	0.398	0.42590	0.449379577644	0.44558	0.335866359051135	0.33499	0.188691245063	0.21188	0.471151411533	0.34839	T	0.175291	0.52483	T	0.0512656	0.58505	T	-0.164137	0.57977	T	0.936455905437469	0.60547	D	0.767123	0.39577	T	0.19478427	0.41242	0.19957332	0.43846	0.19478427	0.41242	0.19957332	0.43845	-4.026	0.24787	T	.	.	0.610	0.71848	P	.;.;.	.;.;.	3.057320	0.41045	21.3	0.99387453982124174	0.62157	0.97238	0.73508	D	AEFDBI	0.448369	0.50363	N	0.192805104781322	0.50852	3.271494	0.289710337560756	0.54937	3.657473	0.999627476162613	0.41093	0.706298	0.61202	0	0.709663	0.81188	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.81	4.94	0.64645	2.554000	0.45507	4.885000	0.45705	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1418:0.7861:0.0:0.0721	9.504	0.38199	557	0.71576	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4167	1342.85	104	chr2	157321525	.	C	G	1342.85	.	AC=15;AF=0.417;AN=36;BaseQRankSum=-4.190e+00;DP=3903;ExcessHet=17.4423;FS=278.896;InbreedingCoeff=-0.6111;MLEAC=16;MLEAF=0.444;MQ=60.00;MQRankSum=0.00;QD=0.51;ReadPosRankSum=0.851;SOR=12.437	GT:AD:DP:GQ:PL	0/1:122,56:187:99:363,0,2338	3	0	15	3
chr2	165757106	165757106	C	T	exonic	GALNT3	.	nonsynonymous SNV	GALNT3:NM_004482:exon7:c.G1333A:p.D445N,	Tumoral calcinosis, hyperphosphatemic, familial, Autosomal recessive	.	2	1518	2	0	0	2	0.000658328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	4.335	H	0.26	T	0.767	D	0.730	D	0.351	5.522	35	5.71	2.700	7.818	19.861	0.675	0.216442516224	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1208726688	3.421e-06	3.42e-06	2.723e-06	4.126e-06	0.0002	1e-06	7.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	1.799e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.405	0.98666	H	-0.55	0.71068	T	-4.96	0.81985	D	0.899	0.95608	0.767	0.94008	D	0.730	0.90773	D	10	0.89209765	0.88554	D	0.216443	0.87559	D	0.675	0.88013	0.689	0.82653	0.976659408691	0.97641	0.8625156380424607	0.86215	0.475568717139	0.46728	0.669545412064	0.62774	T	0.665926	0.90029	D	-0.0312521	0.47235	T	-0.10114	0.63310	T	0.996877074241638	0.90265	D	0.994501	0.98160	D	0.84293735	0.86819	0.7377619	0.84500	0.84293735	0.86821	0.7377619	0.84501	-10.151	0.74811	D	0.6354635594009299	0.70543	0.613	0.77974	P	.;.;.	.;.;.	5.466916	0.91227	32	0.99928548847358944	0.99222	0.98345	0.81842	D	AEFBI	0.911651	0.87121	D	1.10922425877812	0.98301	17.91415	1.01406389482408	0.98881	19.72756	0.999999999999977	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.542086	0.14980	0	.	.	5.71	5.71	0.89031	7.905000	0.86479	7.708000	0.66649	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.861	0.96780	672	0.60758	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1337.98	33	chr2	165757106	.	C	T	1337.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.734;DP=827;ExcessHet=0.0000;FS=0.654;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.29;ReadPosRankSum=0.325;SOR=0.594	GT:AD:DP:GQ:PL	0/1:71,59:130:99:1352,0,1668	20	0	1	0
chr2	169701157	169701157	A	C	exonic	PHOSPHO2	.	nonsynonymous SNV	PHOSPHO2:NM_001008489:exon4:c.A186C:p.E62D	.	.	424	1087	9	2	0	13	0.00594422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.626	P	0.266	B	0.004	U	0.897	N	2.455	M	0.86	T	-0.964	T	0.133	T	0.331	2.464	14.20	4.08	0.928	2.512	8.564	0.118	0.016711146471	0.0005	0.000798722	0.0010	0	0.0009	0.0001	0	0.0013	0.0011	0.0013	0.0009573	148	154602	rs146969607	0.0006	0.0006	0.0005	0.0007	0.0092	0.0006	0.0006	0.0072	0.0065	5.974e-05	0.0009	0.0120	0	7.489e-05	0.0092	0.0003	0.0014	0.0010	0.0006	0.0006	0.0006	0.0007	0.0008	0.0005	0.0005	0.0005	0.0004	0	0	0.0008	0.0124	0	9.413e-05	0.0068	0.0005	0.0028	0.0002	0.142	0.26965	T	0.481	0.11864	T	0.626	0.40074	P	0.266	0.39732	B	0.004346	0.33837	U	0.245763	0.897493	0.27766	N	2.89	0.83701	M	0.86	0.46777	T	-1.26	0.31778	N	0.381	0.42541	-0.9635	0.38507	T	0.133	0.44661	T	10	0.005628288	0.00125	T	0.016711	0.38094	T	0.118	0.32913	0.429	0.47680	0.278968121808	0.27521	0.6323529164696147	0.63169	0.268463197403	0.29359	0.425486952066	0.28592	T	0.026619	0.19659	T	-0.397644	0.02399	T	-0.394406	0.34036	T	0.062276395136634	0.07522	T	0.772623	0.40374	T	0.12696302	0.29723	0.114071965	0.27535	0.12696302	0.29723	0.114071965	0.27534	-5.645	0.43201	T	.	.	0.271	0.50545	B	.;.;.;.;.	.;.;.;.;.	2.252823	0.28777	17.91	0.99344614563585254	0.60331	0.92541	0.55954	D	AEFBI	0.412543	0.48257	N	0.101458427072319	0.46529	2.892026	0.146165238104342	0.46938	2.931844	0.0871879849166654	0.16028	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.528226	0.09195	0	.	.	5.24	4.08	0.46880	1.578000	0.36135	5.308000	0.48255	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8495:0.0:0.1505:0.0	8.564	0.32688	721	0.55360	.;.;.;.;.	.	.	.	.	.	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	0.02381	2248.98	33	chr2	169701157	.	A	C	2248.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.482e+00;DP=815;ExcessHet=0.0000;FS=5.568;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.30;ReadPosRankSum=-1.252e+00;SOR=0.682	GT:AD:DP:GQ:PL	0/1:49,81:130:99:2263,0,1350	20	0	1	0
chr2	176093094	176093094	-	GCGGCA	exonic	HOXD13	.	nonframeshift insertion	HOXD13:NM_000523:exon1:c.204_205insGCGGCA:p.A71_S72insAA,	Brachydactyly, type D, Autosomal dominant;Brachydactyly, type E, Autosomal dominant;Syndactyly, type V, Autosomal dominant;Synpolydactyly 1, Autosomal dominant	.	8	704	635	169	6	979	0.408652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0	0.0008	0	0	0	0.0013	0.0001035	16	154602	rs775525473	0.0001	0.0001	0.0001	0.0002	0.0016	0.0001	0.0001	0.0009	0.0008	0.0002	7.082e-05	0	0.0001	0	0.0016	7.043e-05	0.0003	0.0011	6.616e-05	6.568e-05	5.173e-05	8.128e-05	0.0006	3.539e-05	2.633e-05	0.0002	8.996e-05	0	0	0	0	0	0	0	8.907e-05	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	14698.8	35	chr2	176093094	.	G	A,GGCGGCA	14698.8	.	AC=12,1;AF=0.286,0.024;AN=42;BaseQRankSum=0.290;DP=1345;ExcessHet=1.3217;FS=0.527;InbreedingCoeff=-0.0027;MLEAC=12,1;MLEAF=0.286,0.024;MQ=60.00;MQRankSum=0.00;QD=15.77;ReadPosRankSum=0.902;SOR=0.632	GT:AD:DP:GQ:PL	0/1:44,49,0:93:99:1198,0,1037,1330,1184,2514	10	2	8	0
chr2	178566813	178566813	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon154:c.G52124A:p.R17375H	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	1	1519	2	0	0	2	0.000657895	.	.	56540	Early-onset_myopathy_with_fatal_cardiomyopathy|Cardiomyopathy|Dilated_cardiomyopathy_1G|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|TTN-related_disorder|Tibial_muscular_dystrophy|not_provided|Cardiovascular_phenotype	MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|.|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:C3661900|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.096	B	0.039	B	.	.	1.000	D	1.51	L	0.24	T	-0.943	T	0.089	T	0.369	2.111	13.02	3.95	0.758	4.036	12.046	0.102	.	0.0056	0.00459265	0.0016	0.0153	0.0014	0	0	0.0002	0.0033	0.0005	0.0014359	222	154602	rs56044609	0.0006	0.0006	0.0007	0.0006	0.0169	0.0006	0.0006	0.0157	0.0153	0.0169	0.0019	0	5.045e-05	5.645e-05	0.0023	8.546e-05	0.0018	0.0006	0.0051	0.0051	0.0048	0.0053	0.0167	0.0048	0.0047	0.0157	0.0153	0.0167	0	0.0027	0	0	0	0.0102	0.0002	0.0057	0.0010	0.052	0.39097	T	.	.	.	0.096	0.25489	B	0.039	0.23607	B	.	.	.	.	0.993833	0.42069	D	1.655	0.42436	L	0.24	0.59583	T	-3.31	0.70067	D	0.447	0.48504	-0.9432	0.42105	T	0.089	0.34325	T	9	0.005654186	0.00125	T	.	.	.	0.102	0.29158	.	.	0.144782658237	0.14088	.	.	0.114507717248	0.12909	0.644571661949	0.59214	T	.	.	.	-0.387543	0.02789	T	-0.315175	0.43101	T	0.0187430561526537	0.00586	T	0.893011	0.64352	D	.	.	.	.	.	.	.	.	-6.06	0.46778	T	.	.	0.118	0.24226	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.638129	0.34320	19.59	0.88115597392102629	0.17728	0.94354	0.60898	D	AEFDBI	0.731962	0.67887	D	-0.0564260782466127	0.39316	2.316496	0.0837814190479788	0.43733	2.66902	0.985947047903646	0.30976	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.75	3.95	0.44952	2.663000	0.46440	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8132:0.121:0.0659	12.046	0.52775	437	0.80299	.;.;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	1	0	0.02381	2797.98	103	chr2	178566813	.	C	T	2797.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.39;DP=1999;ExcessHet=0.0000;FS=0.507;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.58;ReadPosRankSum=-9.110e-01;SOR=0.650	GT:AD:DP:GQ:PL	0/1:100,106:206:99:2812,0,2439	20	0	1	0
chr2	178576568	178576568	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon153:c.A42481G:p.S14161G	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	0	1468	51	3	0	57	0.0190444	.	.	56440	not_specified|Cardiomyopathy|Early-onset_myopathy_with_fatal_cardiomyopathy|Tibial_muscular_dystrophy|Hypertrophic_cardiomyopathy|Familial_dilated_cardiomyopathy_and_peripheral_neuropathy|Ventricular_tachycardia|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|TTN-related_disorder|Cardiovascular_phenotype|Dilated_cardiomyopathy_1G	MedGen:CN169374|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|.|EFO:EFO_0005306,Human_Phenotype_Ontology:HP:0004756,MONDO:MONDO:0005477,MedGen:C0042514|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|.|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.999	D	0.992	D	.	.	1.000	D	2.955	M	-0.51	T	0.109	D	0.478	T	0.312	1.899	12.31	4.57	1.105	6.240	11.877	0.566	.	0.0066	0.00299521	0.0075	0.0014	0.0047	0	0.0018	0.0095	0.0111	0.0110	0.0073091	1130	154602	rs72646885	0.0072	0.0072	0.0069	0.0075	0.0170	0.0070	0.0070	0.0143	0.0133	0.0015	0.0048	0.0314	0	0.0029	0.0170	0.0068	0.0092	0.0116	0.0057	0.0057	0.0061	0.0054	0.0087	0.0054	0.0053	0.0074	0.0072	0.0013	0	0.0044	0.0331	0	0.0021	0.0306	0.0080	0.0095	0.0087	0.008	0.91255	D	.	.	.	0.999	0.77913	D	0.992	0.80445	D	.	.	.	.	0.999978	0.58761	D	3.555	0.93317	H	-0.51	0.70597	T	-2.99	0.64710	D	0.441	0.67650	0.109	0.84332	D	0.478	0.80037	T	9	0.004576355	0.00095	T	.	.	.	0.566	0.82289	.	.	0.376039117802	0.37211	.	.	0.443632335628	0.44285	0.520653069019	0.41718	T	.	.	.	-0.274401	0.11271	T	-0.156547	0.58661	T	0.0732738689586987	0.09103	T	0.791621	0.43272	T	.	.	.	.	.	.	.	.	-10.119	0.74621	D	.	.	0.368	0.57720	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.495148	0.70253	25.5	0.83750850580813474	0.14899	0.97136	0.72900	D	AEFBI	0.888384	0.82145	D	0.649867181465855	0.76361	6.472145	0.554012187497778	0.71676	5.691424	0.99518412355579	0.33994	0.553676	0.25195	0	0.601575	0.49859	0	0.463624	0.06942	0	0.620846	0.47308	0	.	.	5.72	4.57	0.55860	7.969000	0.87564	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:0.0682:0.0:0.9317	11.877	0.51835	432	0.80690	.;.;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	1	0	0.04762	5291.11	223	chr2	178576568	.	T	C	5291.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.934e+00;DP=1543;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.60;ReadPosRankSum=-8.430e-01;SOR=0.687	GT:AD:DP:GQ:PL	0/1:154,122:276:99:2701,0,3885	19	0	2	0
chr2	178617362	178617362	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon82:c.G20528A:p.R6843H	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	1	1469	47	3	2	55	0.0177198	.	.	56180	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Hypertrophic_cardiomyopathy|Cardiomyopathy|Ventricular_tachycardia|Dilated_cardiomyopathy_1G|not_provided|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Tibial_muscular_dystrophy|Cardiovascular_phenotype|TTN-related_disorder|not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy	MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|EFO:EFO_0005306,Human_Phenotype_Ontology:HP:0004756,MONDO:MONDO:0005477,MedGen:C0042514|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN230736|.|MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	D	2.15	M	0.48	T	-0.422	T	0.293	T	0.448	2.908	15.69	5.93	2.808	7.770	20.351	0.368	.	0.0066	0.00299521	0.0113	0.0025	0.0103	0	0.0025	0.0146	0.0181	0.0142	0.0064359	995	154602	rs72677237	0.0065	0.0066	0.0063	0.0068	0.0144	0.0064	0.0064	0.0119	0.0110	0.0016	0.0051	0.0263	0	0.0027	0.0144	0.0062	0.0084	0.0110	0.0054	0.0054	0.0056	0.0051	0.0081	0.0051	0.0049	0.0070	0.0067	0.0014	0	0.0044	0.0274	0	0.0019	0.0306	0.0075	0.0090	0.0081	0.004	0.65419	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.81001	D	2.44	0.70756	M	0.48	0.55945	T	-3.24	0.67477	D	0.433	0.72388	-0.4221	0.71323	T	0.293	0.66422	T	9	0.008752823	0.00198	T	.	.	.	0.368	0.68757	.	.	0.426551566703	0.42274	.	.	0.515550123524	0.49465	0.441975414753	0.30847	T	.	.	.	-0.309716	0.07773	T	-0.208267	0.53860	T	0.0243475309348374	0.01188	T	0.923708	0.72722	D	.	.	.	.	.	.	.	.	-7.748	0.60380	D	.	.	0.275	0.50889	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.806982	0.54888	23.5	0.95521441007536012	0.27141	0.98638	0.84997	D	AEFBI	0.928340	0.91241	D	0.892802544777714	0.91401	10.866	0.888614442682798	0.95058	13.27328	0.999999999999994	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.93	5.93	0.95888	7.858000	0.85341	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	20.351	0.98814	424	0.81215	.;.;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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3021.11	131	chr2	178617362	.	C	T	3021.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.937;DP=952;ExcessHet=0.1072;FS=0.431;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=0.435;SOR=0.749	GT:AD:DP:GQ:PL	0/1:79,77:156:99:1796,0,1751	19	0	2	0
chr2	178748464	178748464	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133379:exon46:c.A13936G:p.K4646E,	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	5	1464	49	4	0	57	0.0190955	.	.	56928	not_provided|TTN-related_disorder|not_specified	MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.06	T	0.002	B	0.009	B	.	.	0.961	N	0.895	L	-0.17	T	-1.008	T	0.096	T	0.161	1.396	10.60	-2.52	-0.703	-0.315	6.312	0.041	.	0.0065	0.00259585	0.0082	0.0013	0.0049	0	0.0024	0.0107	0.0122	0.0111	0.0076196	1178	154602	rs140909116	0.0069	0.0069	0.0066	0.0072	0.0163	0.0068	0.0067	0.0136	0.0127	0.0013	0.0050	0.0405	0	0.0032	0.0163	0.0062	0.0093	0.0119	0.0058	0.0058	0.0061	0.0055	0.0093	0.0055	0.0054	0.0072	0.0068	0.0013	0	0.0045	0.0427	0.0002	0.0026	0.0272	0.0075	0.0095	0.0093	0.0	0.91255	D	0.021	0.58089	D	0.002	0.09854	B	0.009	0.14300	B	.	.	.	.	1	0.26107	N	.	.	.	-0.17	0.65563	T	-1.23	0.31170	N	0.142	0.14196	-1.0076	0.27665	T	0.096	0.36185	T	9	0.0027041435	0.00042	T	.	.	.	0.041	0.10877	.	.	0.303123707472	0.29912	.	.	.	.	.	.	.	.	.	.	-0.478046	0.00759	T	-0.449068	0.27799	T	0.00851544510352112	0.00104	T	0.290171	0.05279	T	.	.	.	.	.	.	.	.	-3.478	0.16125	T	.	.	.	.	.	.	.	-0.557152	0.01693	0.122	0.55270828152291973	0.05307	0.06636	0.12653	N	AEBI	0.099856	0.20091	N	-1.21449534428944	0.04789	0.2168849	-1.26204783316918	0.04955	0.2349757	0.99500758879886	0.33904	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.71	-2.52	0.05978	-0.106000	0.10860	.	.	-0.692000	0.04118	0.036000	0.20778	0.000000	0.08366	0.026000	0.12556	0.0:0.3421:0.2383:0.4196	6.312	0.20378	341	0.85936	.	.	.	.	.	.	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	0.02381	1979.98	33	chr2	178748464	.	T	C	1979.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.08;DP=1142;ExcessHet=0.0000;FS=0.590;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.61;ReadPosRankSum=2.02;SOR=0.782	GT:AD:DP:GQ:PL	0/1:85,72:157:99:1994,0,2362	20	0	1	0
chr2	178800635	178800635	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_001256850:exon4:c.G343A:p.V115M	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	1274955	Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Hypertrophic_cardiomyopathy_9|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0013412,MedGen:C1861065,OMIM:613765|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.982	D	.	.	1.000	D	2.93	M	-0.63	T	0.343	D	0.616	D	0.527	3.253	16.91	5.78	2.744	6.034	20.012	0.531	0.0341203383367	.	0.000399361	3.365e-05	0	8.658e-05	0	0	1.514e-05	0	0.0001	5.17e-05	8	154602	rs564777385	1.165e-05	1.163e-05	1.363e-05	9.647e-06	0.0001	7.1e-06	5.8e-06	4.369e-05	2.774e-05	0	0.0001	0	0	0	0	7.205e-06	3.317e-05	2.328e-05	3.284e-05	3.281e-05	2.57e-05	4.029e-05	0.0004	1.26e-05	7.98e-06	7.29e-05	3.029e-05	2.407e-05	0	0	0	0	0	0	2.94e-05	0	0.0004	0.046	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.97	0.75477	D	.	.	.	.	0.989775	0.51308	D	.	.	.	-0.63	0.72011	T	-1.8	0.51646	N	0.426	0.59648	0.343	0.88230	D	0.616	0.86418	D	9	0.42122623	0.56877	T	0.03412	0.55456	D	0.531	0.80247	0.801	0.92017	0.694597339098	0.69196	.	.	0.449917120305	0.44771	0.56867647171	0.48491	T	.	.	.	-0.120138	0.33102	T	-0.1553	0.58773	T	0.190660053846622	0.19883	T	0.986101	0.95681	D	.	.	.	.	.	.	.	.	-8.807	0.66446	D	.	.	0.856	0.80106	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.389234	0.67730	25.1	0.9736058935497619	0.33568	0.97517	0.75265	D	AEFDBIJ	0.880688	0.80750	D	0.88905842623044	0.91213	10.771	0.851432192717722	0.93098	11.82386	0.999999999999999	0.74766	0.55562	0.30534	0	0.546412	0.12157	0	0.68496	0.61776	0	0.586402	0.36253	0	.	.	5.78	5.78	0.91418	6.123000	0.71339	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.012	0.97458	364	0.84707	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	992.98	37	chr2	178800635	.	C	T	992.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.27;DP=806;ExcessHet=0.0000;FS=7.352;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.56;ReadPosRankSum=0.057;SOR=0.240	GT:AD:DP:GQ:PL	0/1:53,41:94:99:1007,0,1272	20	0	1	0
chr2	181678581	181678581	C	T	exonic	NEUROD1	.	nonsynonymous SNV	NEUROD1:NM_002500:exon2:c.G280A:p.A94T,	Maturity-onset diabetes of the young 6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.609	P	0.17	B	0.000	D	1.000	D	2.395	M	-3.83	D	0.764	D	0.839	D	0.612	5.043	29.9	6.16	2.937	7.766	19.424	0.514	0.185104618644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.033	0.53072	D	0.609	0.39586	P	0.17	0.35299	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.345	0.67358	M	-3.83	0.95794	D	-3.41	0.67129	D	0.482	0.51672	0.764	0.93967	D	0.839	0.94617	D	10	0.38633454	0.54568	T	0.185105	0.85791	D	0.514	0.79217	0.212	0.13066	0.973489430895	0.97320	0.29720361518298416	0.29633	0.492894575392	0.47914	0.768705010414	0.77230	T	0.778333	0.94125	D	0.243896	0.78027	D	0.112563	0.77741	D	0.981200635433197	0.73779	D	0.718228	0.33111	T	0.4986552	0.67017	0.56728184	0.74951	0.4986552	0.67017	0.56728184	0.74952	-9.882	0.73202	D	0.40084497278937786	0.49267	0.905	0.83126	P	.	.	4.524390	0.70963	25.6	0.99916718950499361	0.98449	0.02369	0.06743	N	AEFBHCI	0.962693	0.98437	D	0.568276493917839	0.71201	5.615123	0.671606235025357	0.80229	7.252605	0.999999999999839	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	6.16	6.16	0.99302	7.852000	0.85247	7.698000	0.66136	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.424	0.94724	854	0.34840	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02632	75.78	34	chr2	181678581	.	C	T	75.78	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.521e+00;DP=1421;ExcessHet=0.0000;FS=301.863;InbreedingCoeff=-0.0552;MLEAC=1;MLEAF=0.026;MQ=60.00;MQRankSum=0.00;QD=0.70;ReadPosRankSum=0.363;SOR=8.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,20:109:89:0|1:181678581_C_T:89,0,2872:181678581	18	0	1	2
chr2	181678582	181678582	C	G	exonic	NEUROD1	.	nonsynonymous SNV	NEUROD1:NM_002500:exon2:c.G279C:p.K93N,	Maturity-onset diabetes of the young 6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.992	D	0.917	D	0.000	D	1.000	D	2.375	M	-3.89	D	0.970	D	0.899	D	0.103	4.404	23.3	5.28	1.600	1.348	9.838	0.582	0.26666140162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.008	0.67890	D	0.992	0.64738	D	0.917	0.65306	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.36	0.67893	M	-3.89	0.95984	D	-3.93	0.73267	D	0.133	0.12913	0.970	0.96706	D	0.899	0.96635	D	10	0.46495566	0.59513	T	0.266661	0.89719	D	0.582	0.83193	0.204	0.11936	0.981752576465	0.98155	0.3507142746384394	0.34985	1.39719179774	0.85110	0.736429929733	0.72447	T	0.82509	0.95764	D	0.0536061	0.58806	T	-0.160775	0.58282	T	0.984899401664734	0.76055	D	0.852015	0.53695	D	0.75474715	0.81145	0.70367765	0.82535	0.75474715	0.81146	0.70367765	0.82536	-11.457	0.82105	D	0.5535140685958624	0.62186	0.985	0.92305	P	.	.	5.011938	0.83234	28.0	0.99857391532379614	0.93639	0.00500	0.02358	N	AEFBHCI	0.756727	0.69590	D	0.604673102786654	0.73471	5.971292	0.580451642377621	0.73538	5.987081	0.999966982596455	0.48965	0.59774	0.34471	0	0.563428	0.19063	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	6.16	5.28	0.74118	1.359000	0.33717	5.999000	0.52457	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.7863:0.1412:0.0725	9.838	0.40151	854	0.34840	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.03571	78.33	88	chr2	181678582	.	C	G	78.33	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-3.803e+00;DP=1532;ExcessHet=0.0000;FS=302.218;InbreedingCoeff=-0.1306;MLEAC=1;MLEAF=0.036;MQ=60.00;MQRankSum=0.00;QD=0.72;ReadPosRankSum=0.478;SOR=8.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,20:109:89:0|1:181678581_C_T:89,0,2872:181678581	13	0	1	7
chr2	182728977	182728977	A	G	exonic	DNAJC10	.	nonsynonymous SNV	DNAJC10:NM_001271581:exon7:c.A616G:p.I206V	.	.	429	1092	1	0	0	1	0.000457666	.	.	2240063	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.44	T	0.01	B	0.035	B	0.000	D	0.692	D	0.615	N	3.91	T	-0.959	T	0.008	T	0.199	1.263	10.12	4.87	1.087	2.788	6.449	0.072	0.00514569097495	7.7e-05	.	0.0001	9.615e-05	0	0	0	0.0002	0	0	0.0001164	18	154602	rs376885680	0.0001	0.0001	0.0001	0.0001	0.0102	0.0001	9.834e-05	0.0081	0.0074	8.962e-05	0.0002	0.0005	0	0	0.0102	6.475e-05	0.0002	4.638e-05	0.0002	0.0002	0.0002	0.0001	0.0005	0.0001	9.698e-05	0.0003	0.0002	0.0001	0	0.0005	0	0	0	0.0068	0.0001	0.0005	0	0.318	0.15303	T	0.411	0.19972	T	0.004	0.15535	B	0.01	0.22741	B	0.000162	0.48594	D	0.211857	0.692403	0.33340	D	0.98	0.24916	L	3.91	0.03489	T	-0.34	0.13418	N	0.105	0.08925	-0.9591	0.39349	T	0.008	0.02842	T	10	0.08538547	0.14408	T	0.005146	0.13063	T	0.072	0.21020	.	.	0.228597637076	0.22478	0.6028222275402897	0.60213	0.0596258916329	0.06628	0.434627592564	0.29842	T	0.005449	0.04901	T	-0.432716	0.01428	T	-0.574629	0.15027	T	0.095159038901329	0.11816	T	0.893211	0.63049	D	0.06733719	0.14573	0.041626606	0.04775	0.06733719	0.14572	0.041626606	0.04775	-3.68	0.19023	T	.	.	0.086	0.11749	B	.;.;.	.;.;.	1.426990	0.18448	13.74	0.97246852888165625	0.33024	0.88349	0.48236	D	AEFBI	0.334728	0.43340	N	-0.364629844015291	0.26737	1.46156	-0.177927335259863	0.32349	1.83959	0.813309760905239	0.24394	0.744818	0.98587	0	0.732433	0.95613	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.04	4.87	0.62877	2.803000	0.47620	9.008000	0.78544	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.815000	0.38403	0.7456:0.1559:0.0985:0.0	6.449	0.21096	532	0.73501	.;Thioredoxin domain|Thioredoxin domain|ERdj5, first thioredoxin domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1598.98	37	chr2	182728977	.	A	G	1598.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.034e+00;DP=880;ExcessHet=0.0000;FS=1.653;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.15;ReadPosRankSum=-6.450e-01;SOR=0.501	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,43:99:99:0|1:182728970_C_T:1613,0,2218:182728970	20	0	1	0
chr2	186504215	186504215	G	A	splicing	ZC3H15	NM_018471:exon6:c.717+1G>A	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.482	17.82	5.01	2.497	9.756	18.684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59e-06	3.296e-05	1.582e-06	1.598e-06	1.463e-05	2.6e-07	1e-07	.	.	0	0	0	0	2.117e-05	0	0	0	1.463e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36496	0.87625	D	0.286463	0.87465	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.078213	0.96114	35	0.99490046545528399	0.67403	0.99024	0.90115	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1309.41	47	chr2	186504215	.	G	A,C	1309.41	.	AC=8,9;AF=0.235,0.265;AN=34;BaseQRankSum=1.04;DP=1083;ExcessHet=35.6159;FS=116.098;InbreedingCoeff=-0.7527;MLEAC=9,11;MLEAF=0.265,0.324;MQ=60.00;MQRankSum=0.00;QD=1.69;ReadPosRankSum=1.80;SOR=10.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:11,0,20:31:90:.:.:152,182,324,0,142,90	0	0	8	4
chr2	186504215	186504215	G	C	splicing	ZC3H15	NM_018471:exon6:c.717+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.361	17.33	5.01	2.497	9.756	18.684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0056	0.0007	0.0006	0.0009	0.0006	0.0006	0.0007	0.0007	0.0006	9.356e-05	0.0004	0.0002	0.0001	0.0009	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300962	0.83045	D	0.194535	0.82825	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.169298	0.96223	35	0.9948224112750832	0.66959	0.99140	0.91816	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1309.41	47	chr2	186504215	.	G	A,C	1309.41	.	AC=8,9;AF=0.235,0.265;AN=34;BaseQRankSum=1.04;DP=1083;ExcessHet=35.6159;FS=116.098;InbreedingCoeff=-0.7527;MLEAC=9,11;MLEAF=0.265,0.324;MQ=60.00;MQRankSum=0.00;QD=1.69;ReadPosRankSum=1.80;SOR=10.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:11,0,20:31:90:.:.:152,182,324,0,142,90	0	0	8	4
chr2	196790011	196790011	T	C	exonic	GTF3C3	.	nonsynonymous SNV	GTF3C3:NM_001206774:exon5:c.A595G:p.M199V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.608	P	0.175	B	0.000	D	0.991	D	0.895	L	1.24	T	-1.091	T	0.055	T	0.277	2.360	13.85	4.52	2.169	3.350	11.052	0.078	0.0070814595898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.17410	T	0.307	0.32783	T	0.495	0.39540	P	0.065	0.35598	B	0.000004	0.62929	D	0.102934	0.991472	0.41397	D	1.845	0.48678	L	1.24	0.36691	T	-0.95	0.25986	N	0.277	0.31590	-1.0912	0.05335	T	0.055	0.23224	T	10	0.18454927	0.33835	T	0.007081	0.18759	T	0.078	0.22779	0.372	0.38340	0.380564188046	0.37663	0.3299286745795214	0.32905	1.2650273437	0.82139	0.647580981255	0.59643	T	0.16315	0.50810	T	-0.139839	0.29917	T	-0.438645	0.28961	T	0.42974328994751	0.30051	T	0.851115	0.53499	D	0.09776689	0.23050	0.15074654	0.35539	0.09776689	0.23050	0.15074654	0.35539	-5.834	0.48856	T	.	.	0.066	0.08417	B	.;.	.;.	2.790841	0.36681	20.3	0.96673276295709587	0.30672	0.95816	0.66275	D	AEFBI	0.376869	0.46085	N	-0.0097373232172657	0.41413	2.476681	0.140927319542464	0.46663	2.908703	0.564000904831591	0.21437	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.66	4.52	0.54797	3.337000	0.51838	6.036000	0.52970	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0721:0.0:0.9279	11.052	0.47112	254	0.90023	Tetratricopeptide repeat-containing 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	0.02381	1424.98	53	chr2	196790011	.	T	C	1424.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.300e+00;DP=936;ExcessHet=0.0000;FS=0.604;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.50;ReadPosRankSum=-1.433e+00;SOR=0.652	GT:AD:DP:GQ:PL	0/1:79,71:150:99:1439,0,1778	20	0	1	0
chr2	197078765	197078765	T	G	exonic	ANKRD44	.	nonsynonymous SNV	ANKRD44:NM_001195144:exon16:c.A1588C:p.K530Q	.	.	435	1043	42	2	0	46	0.021576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.997	D	0.971	D	0.000	D	1.000	D	1.51	L	2.34	T	-0.206	T	0.362	T	0.526	4.997	29.3	5.25	2.326	7.825	15.608	0.188	0.044483328986	0.0043	0.00219649	0.0043	0.0003	0.0051	0	0.0002	0.0061	0.0078	0.0030	0.0042496	657	154602	rs61752172	0.0045	0.0045	0.0043	0.0047	0.0232	0.0044	0.0044	0.0200	0.0188	0.0009	0.0042	0.0174	0	0.0003	0.0232	0.0046	0.0052	0.0040	0.0038	0.0038	0.0042	0.0035	0.0058	0.0036	0.0035	0.0053	0.0051	0.0007	0.0066	0.0043	0.0173	0	0.0004	0.0238	0.0058	0.0019	0.0035	0.01	0.56456	D	0.055	0.46862	T	0.995	0.67487	D	0.971	0.72444	D	0.000000	0.84330	D	0.046886	0.999989	0.58761	D	0.89	0.21648	L	2.3	0.65931	T	-1.61	0.42575	N	0.669	0.67736	-0.2056	0.77526	T	0.362	0.72322	T	10	0.007460773	0.00169	T	0.044483	0.61512	D	0.188	0.46444	.	.	0.731554431525	0.72916	0.32170601744354904	0.32083	.	.	0.556903243065	0.46831	T	0.025182	0.18883	T	-0.279275	0.10743	T	-0.170629	0.57386	T	0.0258788176821459	0.01390	T	0.863714	0.70605	D	0.44360352	0.63634	0.26562166	0.52396	0.44360352	0.63634	0.26562166	0.52395	-10.304	0.76657	D	.	.	0.152	0.38080	B	.;.;.;.;.;.	.;.;.;.;.;.	4.500741	0.70384	25.5	0.99540422626555025	0.70461	0.95533	0.65100	D	AEFDBHCI	0.907504	0.86161	D	0.674634754167697	0.77971	6.778502	0.684628958700051	0.81211	7.474072	0.999999999999662	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.685742	0.62368	0	0.567892	0.33627	0	.	.	5.25	5.25	0.73169	8.017000	0.88732	7.886000	0.72778	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:0.0:1.0	15.608	0.76440	736	0.53558	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3508.11	35	chr2	197078765	.	T	G	3508.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.20;DP=984;ExcessHet=0.1072;FS=0.887;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=1.75;SOR=0.627	GT:AD:DP:GQ:PL	0/1:91,77:168:99:1784,0,2279	19	0	2	0
chr2	197523648	197523648	T	C	exonic	HSPE1-MOB4;MOB4	.	nonsynonymous SNV	MOB4:NM_015387:exon2:c.T85C:p.S29P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.000	D	1.000	D	-1.67	N	.	.	-0.977	T	0.034	T	0.646	1.588	11.27	5.02	1.896	6.225	14.399	0.267	0.00959765325218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.265e-05	0.0013	8.89e-05	9.642e-05	0.0001	7.932e-05	7.455e-05	9.055e-05	8.505e-05	3.135e-05	0	0.0001	0	0	0	0.0001	8.651e-05	8.389e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.579	0.08535	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.053972	0.999993	0.81001	D	-1.795	0.00292	N	.	.	.	1.18	0.01107	N	0.438	0.48042	-0.9766	0.35772	T	0.034	0.14813	T	9	0.10651526	0.19742	T	0.009598	0.25107	T	0.267	0.58126	0.341	0.33302	0.043077524339	0.03247	0.669975451478545	0.66935	1.34794577022	0.84014	0.778468906879	0.78697	T	0.055673	0.30073	T	0.0500577	0.58352	T	-0.165872	0.57820	T	0.811242938041687	0.47136	D	0.892711	0.63097	D	0.20700711	0.42893	0.20881961	0.45200	0.20700711	0.42893	0.20881961	0.45199	-0.876	0.00872	T	.	.	0.084	0.09820	B	.;.	.;.	3.297964	0.45264	22.1	0.8980768734361223	0.19119	0.98559	0.84088	D	AEFBI	0.838587	0.75609	D	-0.516315308048682	0.21553	1.144632	-0.200201322439165	0.31530	1.785231	0.986724794269661	0.31114	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.02	5.02	0.66742	5.652000	0.67632	7.608000	0.61804	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.399	0.66596	474	0.77851	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	5227.32	96	chr2	197523648	.	T	C	5227.32	.	AC=19;AF=0.500;AN=38;BaseQRankSum=-1.034e+00;DP=1714;ExcessHet=36.0830;FS=391.571;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.526;MQ=60.00;MQRankSum=0.00;QD=3.31;ReadPosRankSum=0.282;SOR=12.797	GT:AD:DP:GQ:PL	0/1:41,28:69:99:208,0,575	0	0	19	2
chr2	199819527	199819527	-	A	exonic	FTCDNL1	.	stoploss	FTCDNL1:NM_001350853:exon4:c.441dupT:p.*148delinsLNLRSPL*,	.	.	465	530	157	5	365	532	0.136104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	1928.6	30	chr2	199819526	.	TA	T,TAA,TAAA	1928.6	.	AC=4,14,2;AF=0.095,0.333,0.048;AN=42;BaseQRankSum=0.562;DP=865;ExcessHet=26.8223;FS=1.986;InbreedingCoeff=-0.6840;MLEAC=3,15,2;MLEAF=0.071,0.357,0.048;MQ=60.00;MQRankSum=0.00;QD=2.80;ReadPosRankSum=-2.030e-01;SOR=0.840	GT:AD:DP:GQ:PL	0/2:27,5,11,0:43:99:112,133,810,0,466,566,227,771,591,862	2	0	4	0
chr2	199819527	199819527	-	AA	exonic	FTCDNL1	.	stoploss	FTCDNL1:NM_001350853:exon4:c.441_442insTT:p.*148delinsFKLEVPFMSHTLLMQEEL*,	.	.	465	530	157	5	365	532	0.136104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	1928.6	30	chr2	199819526	.	TA	T,TAA,TAAA	1928.6	.	AC=4,14,2;AF=0.095,0.333,0.048;AN=42;BaseQRankSum=0.562;DP=865;ExcessHet=26.8223;FS=1.986;InbreedingCoeff=-0.6840;MLEAC=3,15,2;MLEAF=0.071,0.357,0.048;MQ=60.00;MQRankSum=0.00;QD=2.80;ReadPosRankSum=-2.030e-01;SOR=0.840	GT:AD:DP:GQ:PL	0/2:27,5,11,0:43:99:112,133,810,0,466,566,227,771,591,862	2	0	4	0
chr2	201491791	201491791	C	G	exonic	C2CD6	.	nonsynonymous SNV	C2CD6:NM_001168221:exon15:c.G4550C:p.W1517S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.033	B	0.05	B	.	.	1.000	D	0.69	N	0.99	T	-1.086	T	0.065	T	0.133	0.672	7.595	1.54	0.343	0.064	6.303	0.027	0.00962521724037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.297	0.20551	T	.	.	.	.	.	.	.	.	.	.	0.977599	0.81001	D	.	.	.	0.99	0.41750	T	0.0	0.07008	N	0.168	0.17828	-1.0864	0.06155	T	0.065	0.26807	T	9	0.103854686	0.19115	T	0.009625	0.25153	T	0.027	0.05988	0.486	0.56939	0.177238962908	0.17366	0.061139578440542165	0.06053	0.223923963194	0.24908	0.322087466717	0.13738	T	.	.	.	-0.265066	0.12313	T	-0.618525	0.11301	T	0.0942932516336441	0.11717	T	0.285671	0.05095	T	.	.	.	.	.	.	.	.	0.364	0.00243	T	.	.	0.127	0.26855	B	.	.	0.831232	0.12026	8.583	0.95500283044323409	0.27089	0.18176	0.20151	N	AEFBI	0.151647	0.27617	N	-0.766434132535572	0.14191	0.704917	-0.750714816546643	0.15705	0.8272912	1.828419574484E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.29	1.54	0.22290	0.062000	0.14264	.	.	0.599000	0.40250	0.058000	0.21700	0.005000	0.19230	0.077000	0.17074	0.0:0.6925:0.0:0.3075	6.303	0.20333	571	0.70397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1625.98	53	chr2	201491791	.	C	G	1625.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.273e+00;DP=884;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=-3.590e-01;SOR=0.721	GT:AD:DP:GQ:PL	0/1:65,66:131:99:1640,0,1684	20	0	1	0
chr2	204965294	204965294	T	C	exonic	PARD3B	.	nonsynonymous SNV	PARD3B:NM_001302769:exon3:c.T365C:p.I122T	.	.	426	1091	4	1	0	6	0.00274223	.	.	3210656	PARD3B-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.000	D	0.996	D	2.485	M	0.3	T	-0.217	T	0.337	T	0.986	3.929	19.99	5.8	2.209	5.505	16.143	0.415	0.0548689348061	0.0019	0.00199681	0.0023	0.0006	0.0015	0	0.0002	0.0033	0.0033	0.0017	0.002238	346	154602	rs74648966	0.0024	0.0025	0.0024	0.0025	0.0057	0.0024	0.0023	0.0042	0.0037	0.0004	0.0017	0.0038	0	0.0004	0.0057	0.0027	0.0022	0.0016	0.0020	0.0020	0.0019	0.0020	0.0032	0.0018	0.0017	0.0029	0.0028	0.0003	0.0011	0.0022	0.0035	0.0002	9.416e-05	0	0.0032	0.0033	0.0021	0.001	0.78490	D	0.001	0.92824	D	0.975	0.90584	D	0.86	0.92359	P	0.000000	0.84330	D	0.000000	0.996203	0.43074	D	2.11	0.58565	M	0.3	0.58755	T	-4.06	0.74582	D	0.975	0.98563	-0.2172	0.77226	T	0.337	0.70338	T	10	0.010484993	0.00233	T	0.054869	0.66018	D	0.415	0.72555	.	.	0.861367964963	0.86002	0.6547496311634985	0.65410	0.145806617952	0.16464	0.656763672829	0.60947	T	0.212451	0.60634	T	-0.0182705	0.49100	T	0.198558	0.83050	D	0.0419350455873676	0.04043	T	0.861414	0.60710	D	0.6504939	0.75391	0.6624212	0.80216	0.634693	0.74550	0.6008029	0.76809	-1.841	0.02931	T	.	.	0.771	0.78491	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.940836	0.57659	23.9	0.99847339584027672	0.92663	0.95160	0.63658	D	AEFI	0.631994	0.61277	D	0.707188750477897	0.80103	7.220911	0.689902912309069	0.81611	7.567517	0.977123163154121	0.29790	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.8	5.8	0.92081	5.505000	0.66698	7.908000	0.73883	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:0.0:1.0	16.143	0.81351	700	0.57880	.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.02381	740.98	34	chr2	204965294	.	T	C	740.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=806;ExcessHet=0.0000;FS=4.278;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.11;ReadPosRankSum=0.446;SOR=1.382	GT:AD:DP:GQ:PL	0/1:19,27:46:99:755,0,449	20	0	1	0
chr2	210291065	210291065	T	C	exonic	MYL1	.	nonsynonymous SNV	MYL1:NM_079420:exon6:c.A566G:p.K189R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.0	B	0.002	B	0.000	D	1.000	D	0.84	L	-1.29	T	-0.690	T	0.292	T	0.134	1.890	12.28	6.08	2.333	2.149	11.645	0.243	0.015442459798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.547	0.08787	T	0.452	0.12884	T	0.0	0.02946	B	0.001	0.06944	B	0.000007	0.62929	D	0.141627	0.999992	0.58761	D	2.005	0.54552	M	-1.29	0.79475	T	-1.46	0.35792	N	0.218	0.24385	-0.6898	0.60917	T	0.292	0.66364	T	10	0.22886354	0.39801	T	0.015442	0.36172	T	0.243	0.54921	0.386	0.40624	0.753458437225	0.75122	0.2651397306930992	0.26426	0.0644160972155	0.07180	0.76157605648	0.76163	T	0.373956	0.73785	T	-0.101735	0.36138	T	-0.383912	0.35265	T	0.695697963237762	0.40514	D	0.881612	0.60121	D	0.10950137	0.25888	0.1310562	0.31478	0.10950137	0.25888	0.1310562	0.31477	-6.702	0.56422	T	0.13629439084320075	0.14893	0.087	0.15341	B	.;.	.;.	3.447104	0.47979	22.5	0.99057055031425245	0.51390	0.96391	0.68909	D	AEFBI	0.599679	0.59261	D	-0.183051472774483	0.33841	1.924526	0.0497082618002768	0.42056	2.537296	0.999570245264226	0.40495	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.08	6.08	0.98982	3.319000	0.51694	6.110000	0.53654	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0684:0.0:0.9316	11.645	0.50517	603	0.67726	.;EF-hand domain|EF-hand 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	0.02381	574.98	34	chr2	210291065	.	T	C	574.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.891;DP=710;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.73;ReadPosRankSum=1.89;SOR=0.610	GT:AD:DP:GQ:PL	0/1:24,25:49:99:589,0,515	20	0	1	0
chr2	213056961	213056961	T	C	exonic	IKZF2	.	nonsynonymous SNV	IKZF2:NM_001371274:exon4:c.A278G:p.N93S	.	.	420	1067	34	1	0	36	0.0165899	.	.	707998	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.61	T	0.008	B	0.011	B	0.000	N	1.000	D	0	N	3.41	T	-1.096	T	0.020	T	0.159	0.712	7.791	4.86	1.101	1.619	12.101	0.052	.	0.0084	0.0103834	0.0064	0.0107	0.0036	0.0047	0.0009	0.0062	0.0066	0.0099	0.0064165	992	154602	rs16849611	0.0061	0.0061	0.0058	0.0064	0.0231	0.0060	0.0059	0.0199	0.0187	0.0121	0.0045	0.0116	0.0064	0.0019	0.0231	0.0055	0.0078	0.0107	0.0073	0.0073	0.0078	0.0069	0.0112	0.0070	0.0068	0.0104	0.0101	0.0112	0	0.0060	0.0104	0.0037	0.0008	0.0340	0.0060	0.0114	0.0095	0.603	0.14645	T	0.337	0.20877	T	0.004	0.12183	B	0.002	0.12133	B	0.000226	0.47286	N	0.145743	0.994994	0.81001	D	0.57	0.15267	N	3.24	0.43672	T	-0.18	0.17624	N	0.193	0.22098	-1.0960	0.04611	T	0.020	0.08266	T	10	0.0036978126	0.00068	T	.	.	.	0.052	0.14661	.	.	0.082315109003	0.07666	0.10670747703549179	0.10600	0.0087491305882	0.00795	0.470510661602	0.34751	T	0.131431	0.46091	T	-0.541428	0.00329	T	-0.540113	0.18285	T	0.00385367496300789	0.00041	T	0.875013	0.58582	D	0.024288576	0.01246	0.03923809	0.03972	0.024288576	0.01245	0.03923809	0.03972	-2.171	0.05060	T	.	.	0.111	0.21390	B	.;.;.;.;.;.	.;.;.;.;.;.	1.886281	0.23959	16.22	0.68962542578719044	0.08821	0.75521	0.36981	D	AEFBI	0.391359	0.46983	N	-0.56094061792294	0.20142	1.059648	-0.30721768233779	0.27865	1.549292	0.999986397201172	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.597571	0.31856	0	0.620846	0.47308	0	.	.	6.02	4.86	0.62624	1.672000	0.37139	1.558000	0.27338	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0667:0.0:0.9333	12.101	0.53083	911	0.21964	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2368.98	35	chr2	213056961	.	T	C	2368.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.771;DP=927;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.56;ReadPosRankSum=0.647;SOR=0.729	GT:AD:DP:GQ:PL	0/1:107,98:205:99:2383,0,2634	20	0	1	0
chr2	218263058	218263058	A	G	exonic	GPBAR1	.	nonsynonymous SNV	GPBAR1:NM_001077191:exon2:c.A334G:p.M112V	.	.	410	1110	2	0	0	2	0.00090009	.	.	492565	not_provided|not_specified|GPBAR1-related_disorder	MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.0	B	0.392	N	1.000	N	-0.08	N	1.47	T	-1.014	T	0.025	T	0.055	-1.634	0.013	-4.25	-0.351	-0.848	4.823	0.016	0.00215240874402	.	.	0.0002	0	0	0.0003	0	0.0003	0	0	0.0001488	23	154602	rs202032682	0.0001	0.0001	0.0001	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0	2.236e-05	0.0047	0.0004	0	0.0002	3.418e-05	0.0005	0	0.0001	0.0001	0.0002	0.0001	0.0002	9.164e-05	7.717e-05	2.849e-05	1.86e-05	0	0	0	0.0043	0.0002	0	0	7.36e-05	0	0	0.856	0.02698	T	0.221	0.25827	T	0.0	0.02946	B	0.0	0.01387	B	0.392437	0.13236	N	0.678515	1	0.08975	N	-0.63	0.02141	N	1.47	0.31987	T	0.01	0.06868	N	0.066	0.03956	-1.0141	0.25625	T	0.025	0.10821	T	10	0.007820815	0.00178	T	0.002152	0.04016	T	0.016	0.02506	.	.	0.39798585902	0.39410	0.3759756674634495	0.37511	0.0439852699603	0.04735	0.338374167681	0.16194	T	0.045535	0.27151	T	-0.544622	0.00314	T	-0.71122	0.05233	T	0.0244586776075838	0.01203	T	0.415458	0.10884	T	0.093095675	0.21857	0.13105525	0.31478	0.093095675	0.21857	0.13105525	0.31477	-2.289	0.04495	T	.	.	0.051	0.00179	B	.;.;.;.	.;.;.;.	-0.248571	0.02851	0.401	0.56042441826870493	0.05468	0.12834	0.17507	N	AEFDBCI	0.065468	0.12770	N	-1.1138827046077	0.06395	0.2942659	-1.08334082687374	0.08028	0.3929723	0.999995580973363	0.74766	0.421363	0.06395	0	0.379588	0.06130	0	0.536957	0.11973	0	0.508809	0.08732	0	.	.	5.15	-4.25	0.03508	-0.526000	0.06295	-2.392000	0.03811	0.756000	0.94297	0.002000	0.15269	0.000000	0.08366	0.844000	0.39860	0.3212:0.1102:0.4605:0.1082	4.823	0.12766	886	0.28090	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1082.98	37	chr2	218263058	.	A	G	1082.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.863e+00;DP=823;ExcessHet=0.0000;FS=0.684;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.02;ReadPosRankSum=-4.250e-01;SOR=0.621	GT:AD:DP:GQ:PL	0/1:71,49:120:99:1097,0,2023	20	0	1	0
chr2	218429888	218429888	G	T	exonic	VIL1	.	nonsynonymous SNV	VIL1:NM_007127:exon9:c.G889T:p.V297L,	Cholestasis, progressive canalicular (1)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.953	D	0.000	D	1.000	D	2.7	M	0.73	T	-0.306	T	0.333	T	0.86	3.692	18.76	4.72	2.466	6.531	17.866	0.297	0.022092023772	.	.	8.284e-06	0	0	0	0	1.507e-05	0	0	6.5e-06	1	154602	rs140845549	5.475e-06	5.472e-06	5.448e-06	5.502e-06	7.197e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.197e-06	0	0	6.59e-06	6.573e-06	1.288e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.037	0.50676	D	0.009	0.70582	D	1.0	0.90584	D	0.953	0.69275	D	0.000189	0.48115	D	0.084306	0.999993	0.81001	D	2.305	0.65957	M	0.73	0.50721	T	-2.57	0.55501	D	0.808	0.80375	-0.3061	0.74815	T	0.333	0.70026	T	10	0.7477571	0.75413	D	0.022092	0.44941	T	0.297	0.61730	0.504	0.59770	0.653222280543	0.65033	0.6440047264393644	0.64335	0.650635834569	0.58335	0.598959326744	0.52757	T	0.360091	0.72639	T	0.216194	0.75414	D	0.072771	0.75095	D	0.95790833234787	0.65131	D	0.89861	0.64536	D	0.33266827	0.55688	0.24600272	0.50100	0.33266827	0.55688	0.24600272	0.50099	-7.264	0.65994	T	.	.	0.338	0.69182	B	.;.	.;.	4.116826	0.61501	24.3	0.99659628748733331	0.77820	0.98231	0.80757	D	AEFDBI	0.953539	0.96991	D	0.608238997311787	0.73696	6.008349	0.518166785232194	0.69212	5.328409	0.999974171255984	0.50053	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.562822	0.20929	0	.	.	4.72	4.72	0.59248	7.845000	0.85166	4.508000	0.43636	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.842000	0.39752	0.0:0.0:1.0:0.0	17.866	0.88709	909	0.22467	Gelsolin-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1516.98	36	chr2	218429888	.	G	T	1516.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.646;DP=900;ExcessHet=0.0000;FS=0.602;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.98;ReadPosRankSum=1.02;SOR=0.709	GT:AD:DP:GQ:PL	0/1:84,68:152:99:1531,0,1924	20	0	1	0
chr2	226795381	226795381	C	G	exonic	IRS1	.	nonsynonymous SNV	IRS1:NM_005544:exon1:c.G3358C:p.G1120R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.745	P	0.331	B	0.001	D	0.997	N	0.69	N	0.38	T	-1.011	T	0.108	T	0.456	0.916	8.727	5.33	2.626	-0.164	14.883	0.156	0.0173765566946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	0.27904	T	0.203	0.27325	T	0.745	0.43117	P	0.331	0.42107	B	0.000594	0.43095	D	0.000000	0.997206	0.22752	N	1.78	0.46185	L	0.38	0.57575	T	-1.03	0.27052	N	0.136	0.13341	-1.0110	0.26604	T	0.108	0.39172	T	10	0.20165521	0.36257	T	0.017377	0.39055	T	0.156	0.40720	0.319	0.29741	0.790373697341	0.78843	0.38451508593414696	0.38366	0.327512791285	0.34889	0.508638381958	0.40032	T	0.358687	0.72521	T	-0.0837879	0.39095	T	-0.358132	0.38268	T	0.408756226301193	0.29271	T	0.589941	0.21689	T	0.11304129	0.26700	0.11721534	0.28297	0.11304129	0.26699	0.11721534	0.28296	-5.081	0.37706	T	.	.	0.232	0.46493	B	.	.	2.375664	0.30488	18.45	0.97754305521540386	0.35763	0.32408	0.24578	N	AEFDBHCI	0.250398	0.37045	N	-0.267987572952429	0.30392	1.694194	-0.250855574341207	0.29742	1.668799	0.999999999060087	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.26897	0.05253	2	0.604944	0.38103	0	.	.	5.33	5.33	0.75683	0.410000	0.20819	3.473000	0.38595	0.599000	0.40250	0.000000	0.06391	0.974000	0.29927	0.189000	0.21571	0.0:1.0:0.0:0.0	14.883	0.70186	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1310.98	40	chr2	226795381	.	C	G	1310.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.973;DP=1121;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.92;ReadPosRankSum=-9.210e-01;SOR=0.737	GT:AD:DP:GQ:PL	0/1:64,56:120:99:1325,0,1528	20	0	1	0
chr2	228018867	228018867	C	T	exonic	SPHKAP	.	nonsynonymous SNV	SPHKAP:NM_001142644:exon7:c.G1987A:p.V663I	.	.	429	1080	10	2	1	15	0.00643974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.002	B	0.001	B	0.455	N	1.000	N	-0.55	N	0.99	T	-1.038	T	0.040	T	0.047	2.185	13.26	1.7	0.112	0.973	0.462	0.042	0.00295187338938	0.0016	0.000599042	0.0017	0.0004	0.0006	0	0	0.0027	0.0011	0.0007	0.0015718	243	154602	rs115375305	0.0016	0.0016	0.0016	0.0017	0.0085	0.0016	0.0016	0.0066	0.0059	0.0003	0.0006	0.0181	0.0002	7.488e-05	0.0085	0.0014	0.0025	0.0012	0.0017	0.0018	0.0020	0.0015	0.0023	0.0016	0.0015	0.0015	0.0014	0.0002	0.0440	0.0009	0.0185	0	9.423e-05	0.0102	0.0018	0.0028	0.0023	0.477	0.08787	T	0.463	0.12668	T	0.0	0.09854	B	0.0	0.04355	B	0.455005	0.04836	N	1.286100	1	0.08975	N	-0.69	0.01958	N	0.99	0.41750	T	-0.01	0.07155	N	0.033	0.01740	-1.0381	0.17893	T	0.040	0.17020	T	10	0.0031555295	0.00053	T	0.002952	0.06280	T	0.042	0.11227	.	.	0.0482279557977	0.04254	0.07047903892941995	0.06984	0.0414775288599	0.04451	0.273816943169	0.06645	T	0.00858	0.07868	T	-0.6872	0.00043	T	-0.767156	0.02863	T	0.00361392054005881	0.00038	T	0.112789	0.00855	T	0.019902766	0.00531	0.02561494	0.00613	0.019902766	0.00531	0.02561494	0.00613	-3.225	0.12926	T	.	.	0.081	0.08609	B	.;.	.;.	1.256237	0.16537	12.60	0.90968524197328204	0.20218	0.05613	0.11520	N	AEFBI	0.048405	0.08256	N	-1.09134845170511	0.06801	0.3141479	-0.982530000252836	0.10178	0.5109501	2.29836144102018E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.54	1.7	0.23359	1.254000	0.32500	2.991000	0.35881	-0.107000	0.15377	0.001000	0.13787	0.264000	0.24003	0.994000	0.71098	0.2196:0.2342:0.2807:0.2655	0.462	0.00483	864	0.32732	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2413.98	33	chr2	228018867	.	C	T	2413.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.07;DP=2176;ExcessHet=0.0000;FS=4.884;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.61;ReadPosRankSum=-2.430e-01;SOR=0.445	GT:AD:DP:GQ:PL	0/1:114,94:208:99:2428,0,2909	20	0	1	0
chr2	232549510	232549510	C	T	exonic	TIGD1	.	nonsynonymous SNV	TIGD1:NM_145702:exon1:c.G373A:p.A125T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.899	P	0.787	P	.	.	0.996	N	1.355	L	1.56	T	-1.018	T	0.087	T	0.19	1.551	11.14	0.556	0.550	0.441	.	0.055	0.00221796310826	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1287251917	0	1.575e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	0.04561	T	0.483	0.11795	T	0.899	0.49514	P	0.787	0.57594	P	.	.	.	.	0.995699	0.23225	N	0.76	0.19266	N	1.56	0.29602	T	-0.16	0.09460	N	0.18	0.19459	-1.0180	0.24366	T	0.087	0.33746	T	8	0.13647899	0.25966	T	0.002218	0.04206	T	0.055	0.15663	0.354	0.35408	0.301789629655	0.29801	0.03610414074900602	0.03557	.	.	0.356378555298	0.18858	T	0.132155	0.46208	T	-0.262038	0.12662	T	-0.614176	0.11647	T	0.215131044387817	0.21218	T	0.524548	0.17205	T	0.055484157	0.10788	0.12149436	0.29314	0.055484157	0.10787	0.12149436	0.29313	-3.001	0.10191	T	.	.	0.075	0.05360	B	.	.	1.128217	0.15144	11.62	0.92923730072353838	0.22486	0.00797	0.03252	N	AEFGBI	0.037701	0.05224	N	-0.367876417896291	0.26620	1.454231	-0.55746153257013	0.20608	1.111072	0.999881489825719	0.44867	0.608746	0.35421	0	0.587265	0.34161	0	0.731467	0.93227	0	0.605231	0.38476	0	.	.	0.556	0.556	0.16442	0.442000	0.21343	-0.903000	0.06984	-0.178000	0.10482	0.117000	0.23121	0.011000	0.20116	0.123000	0.19290	.	.	.	917	0.20147	HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding 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	1	0	0	0	0.09375	109.63	12	chr2	232549510	.	C	T	109.63	.	AC=3;AF=0.094;AN=32;BaseQRankSum=0.00;DP=241;ExcessHet=0.3300;FS=11.274;InbreedingCoeff=-0.1807;MLEAC=4;MLEAF=0.125;MQ=57.39;MQRankSum=-2.200e+00;QD=4.77;ReadPosRankSum=0.282;SOR=3.258	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,1:9:18:0|1:232549510_C_T:18,0,333:232549510	13	0	3	5
chr2	232549513	232549513	C	T	exonic	TIGD1	.	nonsynonymous SNV	TIGD1:NM_145702:exon1:c.G370A:p.A124T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	0.899	P	0.787	P	.	.	1.000	N	2.075	M	1.49	T	-0.995	T	0.105	T	0.23	1.050	9.288	0.556	0.550	0.441	.	0.082	0.00219902448544	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1350330081	0	6.293e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.713	0.04008	T	0.506	0.10967	T	0.899	0.49514	P	0.787	0.57594	P	.	.	.	.	0.999546	0.21009	N	2.005	0.54552	M	1.49	0.31470	T	-0.79	0.21860	N	0.165	0.17416	-0.9947	0.31379	T	0.105	0.38538	T	8	0.19243413	0.34971	T	0.002199	0.04151	T	0.082	0.23913	0.398	0.42590	0.313518423057	0.30959	0.02492182665721386	0.02443	.	.	0.374947816133	0.21538	T	0.167545	0.51421	T	-0.225216	0.17286	T	-0.561284	0.16256	T	0.35017939762971	0.27026	T	0.530047	0.17581	T	0.09814924	0.23147	0.13288471	0.31878	0.09814924	0.23147	0.13288471	0.31877	-3.021	0.10409	T	.	.	0.099	0.16886	B	.	.	1.250184	0.16471	12.56	0.86624251774057004	0.16661	0.00561	0.02556	N	AEFGBI	0.038874	0.05567	N	-0.395008947537162	0.25645	1.393746	-0.627644686179088	0.18784	1.004976	0.999881489825719	0.44867	0.608746	0.35421	0	0.587265	0.34161	0	0.731467	0.93227	0	0.605231	0.38476	0	.	.	0.556	0.556	0.16442	0.442000	0.21343	0.859000	0.22211	0.596000	0.33519	0.037000	0.20830	0.014000	0.20376	0.041000	0.14368	.	.	.	917	0.20147	HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding 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	1	0	0	0	0.09375	115.68	12	chr2	232549513	.	C	T	115.68	.	AC=3;AF=0.094;AN=32;BaseQRankSum=1.18;DP=234;ExcessHet=0.3300;FS=11.504;InbreedingCoeff=-0.1832;MLEAC=4;MLEAF=0.125;MQ=57.23;MQRankSum=-2.200e+00;QD=5.51;ReadPosRankSum=0.00;SOR=3.401	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,1:9:18:0|1:232549510_C_T:18,0,333:232549510	13	0	3	5
chr2	232549518	232549518	A	T	exonic	TIGD1	.	nonsynonymous SNV	TIGD1:NM_145702:exon1:c.T365A:p.V122E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-2.32	N	1.53	T	-0.973	T	0.011	T	0.137	-1.921	0.008	-1.11	-0.426	-0.489	.	0.018	0.00134953199851	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1270623677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999798	0.20333	N	-2.72	0.00030	N	1.53	0.30401	T	1.57	0.00677	N	0.126	0.11912	-0.9733	0.36496	T	0.011	0.04227	T	8	0.028942138	0.01023	T	0.00135	0.01936	T	0.018	0.03083	0.431	0.48007	0.0716867268079	0.06686	0.03137575966878789	0.03086	.	.	0.426254749298	0.28696	T	0.121027	0.44369	T	-0.317638	0.07093	T	-0.694041	0.06158	T	0.043319108104939	0.04297	T	0.0547945	0.00394	T	0.18671499	0.40092	0.18082406	0.40906	0.18671499	0.40092	0.18082406	0.40905	0.811	0.00158	T	.	.	0.048	0.00090	B	.	.	-0.225105	0.02965	0.440	0.88682828380446543	0.18171	0.00124	0.00775	N	AEFGBI	0.022880	0.01201	N	-1.76933389965436	0.00624	0.02692902	-1.70214441879084	0.01128	0.05070815	0.999884870920577	0.44867	0.608746	0.35421	0	0.587265	0.34161	0	0.731467	0.93227	0	0.605231	0.38476	0	.	.	0.556	-1.11	0.09336	-0.495000	0.06524	0.069000	0.14235	-0.112000	0.15009	0.117000	0.23121	0.164000	0.23286	0.071000	0.16709	.	.	.	917	0.20147	HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding 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	1	0	0	0	0.09375	111.69	12	chr2	232549518	.	A	T	111.69	.	AC=3;AF=0.094;AN=32;BaseQRankSum=2.10;DP=244;ExcessHet=0.3300;FS=11.560;InbreedingCoeff=-0.1666;MLEAC=3;MLEAF=0.094;MQ=57.34;MQRankSum=-2.362e+00;QD=5.88;ReadPosRankSum=-3.850e-01;SOR=3.586	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,1:12:9:0|1:232549510_C_T:9,0,459:232549510	13	0	3	5
chr2	232549519	232549519	C	T	exonic	TIGD1	.	nonsynonymous SNV	TIGD1:NM_145702:exon1:c.G364A:p.V122M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.144	B	0.066	B	.	.	1.000	N	0	N	1.48	T	-1.020	T	0.033	T	0.116	0.461	6.504	-0.456	-0.266	0.441	.	0.016	0.00134745809998	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1330384880	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.28520	T	0.009	0.66756	D	0.144	0.27697	B	0.066	0.27432	B	.	.	.	.	0.999933	0.19363	N	0	0.06538	N	1.48	0.31731	T	0.33	0.03889	N	0.091	0.06990	-1.0195	0.23877	T	0.033	0.14377	T	8	0.05338645	0.05521	T	0.001347	0.01936	T	0.016	0.02506	0.378	0.39319	0.0986583533028	0.09354	0.051309855353736146	0.05072	.	.	0.436837911606	0.30145	T	0.137141	0.46992	T	-0.292978	0.09339	T	-0.658619	0.08360	T	0.0629878365535122	0.07631	T	0.339666	0.07323	T	0.07835389	0.17837	0.12504655	0.30133	0.07835389	0.17837	0.12504655	0.30132	-5.584	0.42646	T	.	.	0.099	0.16800	B	.	.	1.745162	0.22204	15.52	0.85008926846249744	0.15630	0.00734	0.03074	N	AEFGBI	0.037686	0.05218	N	-1.11779158903546	0.06326	0.2909238	-1.16808452328762	0.06449	0.3104785	0.999862968112135	0.44398	0.608746	0.35421	0	0.587265	0.34161	0	0.731467	0.93227	0	0.605231	0.38476	0	.	.	0.556	-0.456	0.11581	0.442000	0.21343	0.027000	0.13676	-0.180000	0.10397	0.322000	0.25520	0.347000	0.24452	0.171000	0.21011	.	.	.	917	0.20147	HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding 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	1	0	0	0	0.09375	111.62	12	chr2	232549519	.	C	T	111.62	.	AC=3;AF=0.094;AN=32;BaseQRankSum=0.447;DP=244;ExcessHet=0.3300;FS=11.560;InbreedingCoeff=-0.1654;MLEAC=3;MLEAF=0.094;MQ=57.34;MQRankSum=-2.362e+00;QD=5.87;ReadPosRankSum=0.00;SOR=3.586	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,1:12:9:0|1:232549510_C_T:9,0,459:232549510	13	0	3	5
chr2	232847516	232847519	CACA	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	43047.11	33	chr2	232847516	.	CACA	C,*	43047.11	.	AC=17,2;AF=0.405,0.048;AN=42;BaseQRankSum=-2.081e+00;DP=2385;ExcessHet=2.1081;FS=4.230;InbreedingCoeff=-0.0572;MLEAC=17,2;MLEAF=0.405,0.048;MQ=60.00;MQRankSum=0.00;QD=21.31;ReadPosRankSum=0.139;SOR=0.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,54,0:132:99:0|1:232847516_CACA_C:1889,0,2939,2124,3102,5226:232847516	6	3	10	0
chr2	232847517	232847517	A	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	2757.23	33	chr2	232847517	.	A	*,AG	2757.23	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=-8.110e-01;DP=2381;ExcessHet=1.0911;FS=4.374;InbreedingCoeff=0.0455;MLEAC=19,1;MLEAF=0.452,0.024;MQ=60.00;MQRankSum=0.00;QD=1.42;ReadPosRankSum=-1.791e+00;SOR=1.006	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:62,54,0:119:99:.:.:1924,0,2812,2145,2802,4919	6	4	10	0
chr2	233032726	233032726	G	A	exonic	NEU2	.	nonsynonymous SNV	NEU2:NM_005383:exon1:c.G55A:p.A19T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.005	B	0.001	B	0.452	N	1.000	N	1.4	L	-1.65	D	-0.855	T	0.340	T	0.032	0.599	7.227	0.455	-0.223	0.642	5.085	0.195	0.0357634774371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.005	0.12996	B	0.001	0.04355	B	0.452084	0.04821	N	1.336970	1	0.08975	N	-0.395	0.03011	N	-1.65	0.82625	D	3.49	0.00088	N	0.03	0.00717	-0.8553	0.51599	T	0.340	0.70624	T	10	0.092514694	0.16297	T	0.035763	0.56560	D	0.195	0.47612	0.532	0.64002	0.737609170456	0.73526	0.3754733138972625	0.37461	0.126505603577	0.14259	0.311518281698	0.12135	T	0.140644	0.47528	T	-0.243422	0.14916	T	-0.587436	0.13888	T	0.0247859399574268	0.01244	T	0.636336	0.25008	T	0.053458735	0.10118	0.045178838	0.06021	0.053458735	0.10117	0.045178838	0.06020	-2.334	0.04745	T	.	.	0.083	0.09191	B	.	.	-0.057395	0.03902	0.857	0.35077685269920733	0.02181	0.02227	0.06474	N	AEFBI	0.024282	0.01477	N	-1.13320437768368	0.06061	0.2779976	-1.11403929563525	0.07431	0.3614466	0.997099776647312	0.35269	0.516011	0.20929	0	0.610034	0.51514	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.48	0.455	0.15862	0.363000	0.20037	-1.025000	0.06567	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.345000	0.25546	0.4635:0.0:0.3991:0.1374	5.085	0.14010	687	0.59234	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1446.98	34	chr2	233032726	.	G	A	1446.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.495e+00;DP=780;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.04;ReadPosRankSum=1.31;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,38:76:99:0|1:233032726_G_A:1461,0,1481:233032726	20	0	1	0
chr2	233032730	233032730	A	G	exonic	NEU2	.	nonsynonymous SNV	NEU2:NM_005383:exon1:c.A59G:p.Y20C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.47	M	-2.02	D	0.670	D	0.756	D	0.972	4.562	24.7	5.48	2.058	9.072	14.759	0.970	0.297876541089	.	.	.	.	.	.	.	.	.	.	.	.	.	rs973664616	4.104e-06	4.104e-06	4.084e-06	4.125e-06	5.974e-05	1.48e-06	9.7e-07	9.89e-06	3.7e-06	5.974e-05	0	0	2.519e-05	0	0	2.698e-06	0	0	2.628e-05	2.627e-05	5.139e-05	0	9.65e-05	8.14e-06	5.14e-06	3.249e-05	1.914e-05	9.65e-05	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000076	0.52346	D	0.000000	0.999999	0.58761	D	3.2	0.89116	M	-2.02	0.85542	D	-8.6	0.97464	D	0.963	0.97317	0.670	0.92801	D	0.756	0.91693	D	10	0.98559344	0.98820	D	0.297877	0.90783	D	0.970	0.99647	.	.	0.972727464864	0.97243	0.7621299884849364	0.76160	0.651292258203	0.58372	0.65041655302	0.60046	T	0.785658	0.94382	D	0.320683	0.84518	D	0.391991	0.91848	D	0.998652517795563	0.94768	D	0.822518	0.48242	T	0.83226633	0.86060	0.84400517	0.91104	0.83226633	0.86062	0.84400517	0.91104	-9.251	0.69299	D	.	.	0.372	0.57969	A	.	.	4.466372	0.69563	25.4	0.99838186865267409	0.91886	0.99802	0.99565	D	AEFBI	0.893673	0.83185	D	0.849220358175006	0.89065	9.820351	0.81246201735602	0.90647	10.50306	0.999999999989781	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.48	5.48	0.80675	9.289000	0.95087	5.253000	0.48099	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.918000	0.45347	1.0:0.0:0.0:0.0	14.759	0.69210	687	0.59234	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1446.98	34	chr2	233032730	.	A	G	1446.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.548;DP=780;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.04;ReadPosRankSum=1.21;SOR=0.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,38:76:99:0|1:233032726_G_A:1461,0,1481:233032726	20	0	1	0
chr2	233950066	233950066	G	A	exonic	TRPM8	.	nonsynonymous SNV	TRPM8:NM_024080:exon9:c.G1060A:p.V354I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.003	B	0.001	B	0.267	N	1.000	N	-0.415	N	4.48	T	-1.000	T	0.046	T	0.445	-0.796	0.687	-3.27	-0.714	0.055	15.285	0.134	0.00471624297935	.	0.000199681	3.3e-05	0	8.654e-05	0	0	4.498e-05	0	0	3.23e-05	5	154602	rs559072239	1.573e-05	1.642e-05	1.225e-05	1.925e-05	0.0004	1.048e-05	8.75e-06	6.188e-05	2.556e-05	8.961e-05	0	0	0	0	0.0004	9.892e-06	6.624e-05	3.479e-05	5.908e-05	5.905e-05	5.139e-05	6.711e-05	0.0002	3.075e-05	2.208e-05	7.869e-05	5.573e-05	0.0002	0	0	0	0	9.416e-05	0	1.47e-05	0	0	1.0	0.00964	T	0.879	0.07127	T	0.002	0.09854	B	0.001	0.04355	B	0.267280	0.15197	N	0.649587	0.999864	0.19989	N	-0.455	0.02793	N	4.48	0.02067	T	0.21	0.04776	N	0.18	0.20925	-0.9996	0.30030	T	0.046	0.19599	T	10	0.070735544	0.10330	T	0.004716	0.11722	T	0.134	0.36365	0.326	0.30873	0.0920862733494	0.08535	0.19064048613073675	0.18982	0.125427775553	0.14139	0.302065730095	0.10710	T	0.101178	0.40769	T	-0.424069	0.01612	T	-0.610253	0.11964	T	0.0100249423307872	0.00134	T	0.594241	0.23382	T	0.014685483	0.00103	0.036929097	0.03239	0.014685483	0.00103	0.036929097	0.03238	-3.524	0.16769	T	.	.	0.070	0.06205	B	.;.	.;.	-1.057538	0.00693	0.020	0.87436842708098539	0.17226	0.01650	0.05300	N	AEFDBI	0.031080	0.03251	N	-1.51610155598509	0.01743	0.07633994	-1.45779705527199	0.02700	0.1246784	3.86469997770991E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.43	-3.27	0.04735	0.150000	0.16082	0.309000	0.17063	-1.457000	0.01087	0.024000	0.20007	0.003000	0.18671	0.069000	0.16583	0.1965:0.0:0.8035:0.0	15.285	0.73524	923	0.18507	.;.	.	.	.	.	.	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	0.02381	2542.98	35	chr2	233950066	.	G	A	2542.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.55;DP=878;ExcessHet=0.0000;FS=7.393;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.82;ReadPosRankSum=0.241;SOR=1.190	GT:AD:DP:GQ:PL	0/1:88,96:184:99:2557,0,2098	20	0	1	0
chr2	236441072	236441072	C	G	exonic	IQCA1	.	nonsynonymous SNV	IQCA1:NM_001270584:exon7:c.G979C:p.A327P	.	.	437	1078	7	0	0	7	0.00323625	.	.	2819069	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.25	T	0.99	D	0.909	D	0.008	N	0.998	N	2.545	M	-3.35	D	-0.977	T	0.112	T	0.854	1.696	11.63	5.18	2.410	2.731	14.202	0.152	0.036325844311	0.0045	0.00179712	0.0043	0.0021	0.0038	0	0.0012	0.0089	0	0	0.0022898	354	154602	rs191563773	0.0053	0.0052	0.0053	0.0052	0.0063	0.0052	0.0051	0.0062	0.0061	0.0011	0.0019	0.0025	2.692e-05	0.0015	0.0019	0.0063	0.0053	8.773e-05	0.0036	0.0036	0.0040	0.0032	0.0062	0.0034	0.0033	0.0057	0.0056	0.0008	0	0.0033	0.0037	0	0.0019	0.0068	0.0062	0.0038	0	0.183	0.21718	T	0.236	0.24694	T	0.212	0.30008	B	0.087	0.29615	B	0.007838	0.31171	N	0.227866	0.998271	0.22253	N	.	.	.	-3.35	0.94022	D	-3.17	0.64363	D	0.781	0.79792	-0.9773	0.35616	T	0.112	0.40214	T	10	0.025479555	0.00741	T	0.036326	0.56919	D	0.523	0.79765	.	.	0.730328594363	0.72793	0.6609666610692002	0.66033	0.404373649715	0.41337	0.605273604393	0.53649	T	0.040136	0.25426	T	0.036601	0.56597	T	0.283524	0.87310	D	0.0485720106040671	0.05246	T	0.870713	0.58316	D	0.51241946	0.67820	0.543386	0.73608	0.51241946	0.67821	0.543386	0.73608	-7.67	0.58799	D	.	.	0.642	0.71472	P	.;.;.	.;.;.	2.596887	0.33703	19.42	0.99614377771832929	0.74992	0.70003	0.34413	D	AEFBI	0.414806	0.48392	N	0.0792599497260243	0.45495	2.805135	0.013171986313868	0.40326	2.404811	0.119453179421279	0.16845	0.553676	0.25195	0	0.610034	0.51514	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.18	5.18	0.71140	2.112000	0.41516	2.446000	0.32792	0.599000	0.40250	0.757000	0.29209	0.987000	0.30940	0.473000	0.28408	0.0:1.0:0.0:0.0	14.202	0.65249	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	0.02381	560.98	34	chr2	236441072	.	C	G	560.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.000e-03;DP=758;ExcessHet=0.0000;FS=1.022;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.20;ReadPosRankSum=1.18;SOR=0.549	GT:AD:DP:GQ:PL	0/1:30,25:55:99:575,0,747	20	0	1	0
chr2	238131677	238131677	G	A	exonic	ESPNL	.	nonsynonymous SNV	ESPNL:NM_001308370:exon4:c.G1859A:p.R620H	.	.	422	1097	2	0	1	3	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.125	M	-0.42	T	0.443	D	0.656	D	0.43	4.001	20.5	4.72	2.176	9.726	16.476	0.642	0.152753261285	7.7e-05	0.000199681	0.0002	9.841e-05	0.0002	0	0	0	0.0022	0.0015	0.000194	30	154602	rs140603175	9.949e-05	0.0001	4.38e-05	0.0002	0.0013	8.596e-05	8.061e-05	0.0011	0.0011	3.013e-05	0.0001	0	2.548e-05	0	0.0003	1.09e-05	0.0001	0.0013	7.876e-05	7.873e-05	5.138e-05	0.0001	0.0012	4.492e-05	3.509e-05	0.0005	0.0004	4.81e-05	0	0.0003	0	0	0	0	0	0	0.0012	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.92359	D	0.000011	0.62929	D	0.000000	0.999976	0.58761	D	2.825	0.82220	M	-1.45	0.80899	T	-3.0	0.67241	D	0.723	0.74553	0.443	0.89724	D	0.656	0.88050	D	10	0.17788279	0.32845	T	0.152753	0.83412	D	0.642	0.86384	.	.	0.733189494507	0.73081	0.7388720057536484	0.73832	0.630159940623	0.57018	0.647831737995	0.59678	T	0.311841	0.68371	T	-0.180784	0.23619	T	-0.0625393	0.66155	T	0.236559333778904	0.22260	T	0.921908	0.73102	D	0.5563563	0.70308	0.39617217	0.64266	0.5563563	0.70309	0.39617217	0.64266	-10.252	0.75530	D	.	.	0.178	0.42520	B	.;.;.	.;.;.	5.093679	0.85075	28.5	0.99942358219935168	0.99824	0.99017	0.90015	D	AEFDBI	0.929554	0.91547	D	0.708496812506163	0.80189	7.239556	0.639040313635221	0.77797	6.749089	0.999999999994983	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.72	4.72	0.59248	8.039000	0.89191	9.663000	0.81199	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.848000	0.40082	0.0:0.0:1.0:0.0	16.476	0.83976	969	0.06854	.;.;.	.	.	.	.	.	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	0.02381	1142.98	39	chr2	238131677	.	G	A	1142.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.057;DP=1150;ExcessHet=0.0000;FS=2.707;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=0.138;SOR=0.690	GT:AD:DP:GQ:PL	0/1:46,47:93:99:1157,0,1091	20	0	1	0
chr2	241317537	241317537	T	-	exonic	SEPTIN2	.	frameshift deletion	SEPTIN2:NM_001349287:exon3:c.112delT:p.C43Vfs*23,	.	.	3	4	19	0	200	219	0.703704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	9867.71	78	chr2	241317535	.	ATT	A,AT	9867.71	.	AC=2,20;AF=0.048,0.476;AN=42;BaseQRankSum=0.729;DP=1727;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=1,20;MLEAF=0.024,0.476;MQ=60.00;MQRankSum=0.00;QD=7.46;ReadPosRankSum=0.074;SOR=0.692	GT:AD:DP:GQ:PL	0/1:30,11,11:61:74:307,0,964,74,515,661	0	0	1	0
chr3	8941790	8941790	T	G	exonic	RAD18	.	nonsynonymous SNV	RAD18:NM_020165:exon5:c.A281C:p.Q94P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.962	D	0.51	P	0.001	N	0.813	D	2.015	M	1.81	T	-0.955	T	0.073	T	0.623	2.205	13.33	3.71	0.882	1.784	7.023	0.132	0.011813036832	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1222683344	3.428e-06	3.42e-06	4.092e-06	2.757e-06	2.702e-06	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.702e-06	3.322e-05	0	1.314e-05	1.313e-05	0	2.69e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.009	0.57480	D	0.063	0.45110	T	0.962	0.55554	D	0.51	0.47925	P	0.001460	0.38980	N	0.261653	0.812926	0.34666	D	2.56	0.74772	M	1.81	0.25182	T	-3.42	0.67241	D	0.496	0.52918	-0.9554	0.40024	T	0.073	0.29675	T	10	0.5814071	0.65870	D	0.011813	0.29802	T	0.132	0.35948	0.467	0.53891	0.252681307341	0.24864	0.6913469126566355	0.69074	0.146173074098	0.16499	0.313137412071	0.12381	T	0.330225	0.70044	T	-0.0427299	0.45541	T	-0.283669	0.46428	T	0.54038417339325	0.34118	D	0.721228	0.33447	T	0.76707065	0.81872	0.6046265	0.77019	0.76707065	0.81874	0.6046265	0.77020	-10.002	0.73925	D	.	.	0.135	0.29255	B	.	.	3.242209	0.44262	21.9	0.99390261428611959	0.62292	0.87403	0.46932	D	AEFBI	0.143301	0.26596	N	0.136079112449471	0.48154	3.031	0.0709022350058876	0.43093	2.618281	0.999136232462682	0.38535	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.86	3.71	0.41733	1.743000	0.37883	2.128000	0.30762	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.147000	0.20199	0.0:0.1008:0.0:0.8992	7.023	0.24105	786	0.46839	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	598.98	34	chr3	8941790	.	T	G	598.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.990e-01;DP=724;ExcessHet=0.0000;FS=2.926;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.93;ReadPosRankSum=0.316;SOR=1.270	GT:AD:DP:GQ:PL	0/1:21,22:43:99:613,0,575	20	0	1	0
chr3	15003967	15003967	C	G	exonic	NR2C2	.	nonsynonymous SNV	NR2C2:NM_001291694:exon2:c.C53G:p.A18G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.0	B	0.0	B	0.003	N	0.870	D	0.69	N	-3.18	D	0.217	D	0.665	D	0.329	3.392	17.45	5.31	2.493	4.693	18.577	0.348	0.0295345532005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.189e-05	0.0009	5.651e-05	4.724e-05	5.923e-05	4.24e-05	3.867e-05	4.761e-05	4.337e-05	3.02e-05	0	3.857e-05	2.528e-05	0	0	5.923e-05	6.69e-05	3.495e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.42199	T	0.088	0.63109	T	0.0	0.02946	B	0.0	0.01387	B	0.002953	0.35672	N	0.313188	0.869993	0.35545	D	-0.14	0.04484	N	-3.3	0.93787	D	-1.5	0.68764	N	0.324	0.36464	0.217	0.86200	D	0.665	0.88392	D	10	0.1999422	0.36022	T	0.029535	0.52028	D	0.348	0.66956	0.082	0.00727	0.202312658747	0.19855	0.13027040555393532	0.12952	0.343984992891	0.36322	0.632090747356	0.57442	T	0.163841	0.50907	T	0.0950387	0.63753	D	-0.10126	0.63300	T	0.647998213768005	0.38376	D	0.841416	0.51891	T	0.14685042	0.33598	0.112335265	0.27105	0.14685042	0.33597	0.112335265	0.27104	-2.954	0.13971	T	.	.	0.074	0.62122	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.397345	0.47066	22.4	0.98891559513655258	0.48019	0.95884	0.66568	D	AEFBI	0.571784	0.57563	D	-0.0193053131226323	0.40981	2.443305	0.183621717806624	0.48950	3.104215	0.999976298748313	0.50053	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	4.784000	0.62103	7.643000	0.63297	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.577	0.91115	588	0.69043	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3	6188.68	230	chr3	15003967	.	C	G	6188.68	.	AC=12;AF=0.300;AN=40;BaseQRankSum=-4.434e+00;DP=4026;ExcessHet=9.6308;FS=254.962;InbreedingCoeff=-0.4237;MLEAC=12;MLEAF=0.300;MQ=60.00;MQRankSum=0.00;QD=2.20;ReadPosRankSum=2.28;SOR=13.530	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,77:259:99:0|1:15003967_C_G:624,0,4939:15003967	8	0	12	1
chr3	16208561	16208561	C	G	exonic	GALNT15	.	nonsynonymous SNV	GALNT15:NM_001319051:exon4:c.C970G:p.P324A	.	.	431	1083	7	1	0	9	0.00413793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9	T	0.001	B	0.002	B	0.023	N	0.966	N	-0.71	N	0.1	T	-1.076	T	0.012	T	0.119	0.961	8.919	4.12	0.819	3.195	11.747	0.055	.	0.0006	0.0123802	0.0107	0.0011	0.0593	0.0449	0.0110	0.0017	0.0121	0.0013	0.0098252	1519	154602	rs12634179	0.0041	0.0041	0.0043	0.0038	0.0516	0.0040	0.0039	0.0497	0.0490	0.0007	0.0478	3.826e-05	0.0516	0.0123	0.0007	0.0006	0.0048	0.0016	0.0052	0.0052	0.0046	0.0059	0.0438	0.0049	0.0048	0.0391	0.0373	0.0011	0	0.0187	0	0.0438	0.0143	0	0.0010	0.0038	0.0021	0.752	0.03565	T	0.973	0.02465	T	0.001	0.07471	B	0.002	0.06944	B	0.022706	0.26581	N	0.432927	0.965842	0.25920	N	0.005	0.07933	N	0.1	0.61326	T	-0.35	0.13418	N	0.065	0.03726	-1.0760	0.08144	T	0.012	0.04700	T	10	0.0016605556	0.00020	T	.	.	.	0.055	0.15663	.	.	.	.	0.28860886469581315	0.28773	0.0404014523321	0.04329	0.29603895545	0.09813	T	0.009071	0.08280	T	-0.559344	0.00256	T	-0.531445	0.19143	T	0.00155269134112455	0.00016	T	0.69713	0.30934	T	0.050854705	0.09251	0.054251224	0.09294	0.050854705	0.09251	0.054251224	0.09293	-3.833	0.21298	T	.	.	0.069	0.04723	B	.;.	.;.	1.912649	0.24293	16.34	0.66035963670175535	0.07943	0.82235	0.41494	D	AEFI	0.163355	0.28963	N	-0.678537185040102	0.16635	0.8492307	-0.455180163907077	0.23402	1.276024	0.996384545931478	0.34709	0.516011	0.20929	0	0.563428	0.19063	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.93	4.12	0.47504	3.266000	0.51272	3.499000	0.38765	0.520000	0.23804	0.980000	0.35271	0.999000	0.35428	0.990000	0.65344	0.0:0.8053:0.1276:0.0671	11.747	0.51093	883	0.28872	Glycosyltransferase 2-like;Glycosyltransferase 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	0.02381	1973.98	43	chr3	16208561	.	C	G	1973.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.273e+00;DP=910;ExcessHet=0.0000;FS=2.760;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=-1.865e+00;SOR=0.716	GT:AD:DP:GQ:PL	0/1:79,83:162:99:1988,0,2030	20	0	1	0
chr3	33093643	33093643	C	T	exonic	TMPPE	.	nonsynonymous SNV	TMPPE:NM_001039770:exon2:c.G553A:p.A185T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.701	P	0.089	B	0.000	D	1.000	D	2.125	M	.	.	-0.920	T	0.118	T	0.375	0.757	8.008	5.17	1.542	3.595	9.928	0.158	0.0103358637783	7.7e-05	.	8.257e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs375586820	5.336e-05	5.336e-05	6.125e-05	4.538e-05	5.665e-05	4.344e-05	4.017e-05	4.525e-05	4.112e-05	2.987e-05	0	0	2.519e-05	0	0	5.665e-05	0.0002	3.478e-05	3.286e-05	3.283e-05	3.855e-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	4.41e-05	0	0	0.386	0.10980	T	0.398	0.15109	T	0.701	0.41872	P	0.089	0.29769	B	0.000011	0.62929	D	0.000000	1	0.81001	D	2.14	0.59869	M	.	.	.	-0.39	0.13611	N	0.192	0.21449	-0.9197	0.45594	T	0.118	0.41407	T	9	0.14002046	0.26618	T	0.010336	0.26763	T	0.158	0.41098	.	.	0.115124310173	0.11017	0.33267175447633673	0.33180	0.584409154258	0.54121	0.450790047646	0.32052	T	0.012612	0.11057	T	-0.0833604	0.39165	T	-0.293872	0.45367	T	0.192965358495712	0.20017	T	0.865313	0.56401	D	0.060755864	0.12503	0.07228482	0.15577	0.060755864	0.12503	0.07228482	0.15577	-2.662	0.16056	T	.	.	0.113	0.22135	B	.;.	.;.	2.653672	0.34557	19.66	0.95219739042360518	0.26438	0.85129	0.44236	D	AEFBCI	0.413587	0.48320	N	0.00246294394641658	0.41968	2.519907	0.0586765806927061	0.42492	2.571123	0.999998338301977	0.74766	0.651	0.46895	0	0.577304	0.33150	0	0.65145	0.50148	0	0.491896	0.07777	0	.	.	6.06	5.17	0.70848	3.656000	0.54207	4.917000	0.46007	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.130000	0.19568	0.1978:0.6705:0.1317:0.0	9.928	0.40672	753	0.51500	.;.	.	.	.	.	.	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	0.02381	1517.98	33	chr3	33093643	.	C	T	1517.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.978;DP=901;ExcessHet=0.0000;FS=0.661;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=0.728;SOR=0.788	GT:AD:DP:GQ:PL	0/1:72,57:129:99:1532,0,1923	20	0	1	0
chr3	40462038	40462038	-	CTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTG:p.A159_K160insAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	3/3:0,0,0,72,0,0,0:72:99:3195,3197,3199,3197,3199,3199,214,216,216,0,3197,3199,3199,216,3199,3197,3199,3199,216,3199,3199,3197,3199,3199,216,3199,3199,3199	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTGCTG:p.A159_K160insAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	3/3:0,0,0,72,0,0,0:72:99:3195,3197,3199,3197,3199,3199,214,216,216,0,3197,3199,3199,216,3199,3197,3199,3199,216,3199,3199,3197,3199,3199,216,3199,3199,3199	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTG:p.A159_K160insAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	3/3:0,0,0,72,0,0,0:72:99:3195,3197,3199,3197,3199,3199,214,216,216,0,3197,3199,3199,216,3199,3197,3199,3199,216,3199,3199,3197,3199,3199,216,3199,3199,3199	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTGCTGCTG:p.A159_K160insAAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	3/3:0,0,0,72,0,0,0:72:99:3195,3197,3199,3197,3199,3199,214,216,216,0,3197,3199,3199,216,3199,3197,3199,3199,216,3199,3199,3197,3199,3199,216,3199,3199,3199	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTGCTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTGCTGCTGCTG:p.A159_K160insAAAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	3/3:0,0,0,72,0,0,0:72:99:3195,3197,3199,3197,3199,3199,214,216,216,0,3197,3199,3199,216,3199,3197,3199,3199,216,3199,3199,3197,3199,3199,216,3199,3199,3199	1	2	2	0
chr3	42210088	42210088	-	GGAGGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGAGGA:p.E624_G625insEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	0/2:32,2,32,0,0:66:99:1243,1275,2809,0,1265,1250,1359,2721,1356,2794,1359,2721,1356,2794,2794	1	3	1	0
chr3	42210088	42210088	-	GGAGGAGGAGGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGAGGAGGAGGA:p.E624_G625insEEEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	0/2:32,2,32,0,0:66:99:1243,1275,2809,0,1265,1250,1359,2721,1356,2794,1359,2721,1356,2794,2794	1	3	1	0
chr3	42210088	42210088	-	GGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGA:p.E624_G625insE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	0/2:32,2,32,0,0:66:99:1243,1275,2809,0,1265,1250,1359,2721,1356,2794,1359,2721,1356,2794,2794	1	3	1	0
chr3	42637080	42637080	T	C	exonic	NKTR	.	nonsynonymous SNV	NKTR:NM_001349124:exon13:c.T1376C:p.I459T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.001	B	0.0	B	0.798	N	1.000	N	0.205	N	2.82	T	-0.953	T	0.016	T	0.028	-0.710	0.941	2.02	0.421	1.841	4.631	0.044	0.00289098595567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.578	0.10281	T	0.0	0.02946	B	0.0	0.01387	B	0.797903	0.06751	N	1.091020	1	0.08975	N	1.04	0.26193	L	2.82	0.10871	T	0.32	0.03955	N	0.026	0.02088	-0.9533	0.40398	T	0.016	0.06616	T	10	0.051080167	0.04936	T	0.002891	0.06104	T	0.044	0.11924	0.318	0.29581	0.043077524339	0.03247	0.044061209714319066	0.04350	0.182636527527	0.20529	0.440671503544	0.30668	T	0.018833	0.15112	T	-0.349114	0.04783	T	-0.739254	0.03922	T	0.0993457169052594	0.12285	T	0.60154	0.22486	T	0.048046563	0.08311	0.053824186	0.09140	0.048046563	0.08310	0.053824186	0.09139	-2.846	0.08615	T	.	.	0.110	0.21353	B	.;.	.;.	0.768406	0.11385	7.997	0.58603708594918114	0.06031	0.07460	0.13477	N	AEFBI	0.063228	0.12207	N	-1.06058826062295	0.07381	0.3427204	-1.01715573256436	0.09408	0.4679015	0.99988424441403	0.44867	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.72	2.02	0.25641	1.865000	0.39117	0.525000	0.19198	-0.120000	0.14102	0.006000	0.17386	0.000000	0.08366	0.227000	0.22653	0.0:0.2847:0.1586:0.5567	4.631	0.11886	441	0.80015	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	133.46	34	chr3	42637080	.	T	C	133.46	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.152e+00;DP=973;ExcessHet=0.1072;FS=321.100;InbreedingCoeff=-0.0588;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.97;ReadPosRankSum=-5.960e-01;SOR=8.885	GT:AD:DP:GQ:PL	0/1:49,21:70:84:84,0,982	19	0	2	0
chr3	43347913	43347913	C	T	exonic	SNRK	.	nonsynonymous SNV	SNRK:NM_001330750:exon5:c.C1036T:p.R346W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.167	B	0.011	B	0.000	D	1.000	D	1.7	L	0.75	T	-1.000	T	0.103	T	0.594	2.121	13.05	1.56	0.476	0.240	9.195	0.143	0.125805909852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	4.084e-06	0	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.91255	D	0.044	0.54934	D	0.167	0.28604	B	0.011	0.15521	B	0.000000	0.84330	D	0.000000	0.999898	0.50595	D	0.695	0.17993	N	0.75	0.50192	T	-2.05	0.50337	N	0.579	0.67218	-0.9998	0.29973	T	0.103	0.37894	T	10	0.243366	0.41549	T	0.125806	0.80737	D	0.143	0.38195	0.368	0.37687	0.36254010156	0.35860	0.3531533864915461	0.35229	1.54913524828	0.87873	0.900644302368	0.96512	D	0.092181	0.38950	T	-0.0631479	0.42413	T	-0.328484	0.41638	T	0.745683312416077	0.43046	D	0.952805	0.82030	D	0.20428273	0.42533	0.15704922	0.36741	0.20428273	0.42533	0.15704922	0.36740	-7.143	0.55071	T	.	.	0.563	0.83098	A	.;.;.;.	.;.;.;.	3.113416	0.42004	21.5	0.99631965338888984	0.76081	0.61112	0.31390	D	AEFBCI	0.544941	0.55966	D	-0.430598651376347	0.24403	1.317374	-0.39772133007602	0.25064	1.376203	0.999713583257747	0.42101	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.71	1.56	0.22423	0.253000	0.18066	1.692000	0.28077	-0.223000	0.07921	0.020000	0.19661	0.900000	0.27958	0.965000	0.52897	0.3939:0.494:0.1121:0.0	9.195	0.36385	509	0.75304	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2094.98	34	chr3	43347913	.	C	T	2094.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.99;DP=871;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.26;ReadPosRankSum=0.252;SOR=0.712	GT:AD:DP:GQ:PL	0/1:81,77:158:99:2109,0,1831	20	0	1	0
chr3	46709586	46709586	-	AAG	exonic	TMIE	.	nonframeshift insertion	TMIE:NM_001370524:exon4:c.210_211insAAG:p.K78_D79insK	Deafness, autosomal recessive 6, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	36052.73	62	chr3	46709583	.	TAAG	T,TAAGAAG	36052.73	.	AC=25,1;AF=0.595,0.024;AN=42;BaseQRankSum=-3.730e-01;DP=1535;ExcessHet=4.5793;FS=0.569;InbreedingCoeff=-0.2115;MLEAC=25,1;MLEAF=0.595,0.024;MQ=60.00;MQRankSum=0.00;QD=28.75;ReadPosRankSum=0.200;SOR=0.670	GT:AD:DP:GQ:PL	0/1:37,27,2:66:99:1009,0,1511,1038,1451,2564	2	7	11	0
chr3	47411282	47411282	C	T	exonic	PTPN23	.	nonsynonymous SNV	PTPN23:NM_001304482:exon19:c.C3106T:p.R1036W	.	.	423	1093	5	1	0	7	0.00319197	.	.	1646977	Neurodevelopmental_disorder_and_structural_brain_anomalies_with_or_without_seizures_and_spasticity|PTPN23-related_disorder|not_provided	MONDO:MONDO:0030046,MedGen:C5394423,OMIM:618890|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.04	D	0.978	D	0.328	B	0.096	N	0.981	N	0.345	N	2.42	T	-1.040	T	0.021	T	0.265	2.356	13.84	3.81	2.468	2.344	4.739	0.088	0.016738907667	0.0002	0.000998403	0.0006	0.0001	0.0024	0	0	0.0006	0	6.105e-05	0.0007244	112	154602	rs147400377	0.0004	0.0004	0.0005	0.0004	0.0055	0.0004	0.0004	0.0040	0.0035	0.0001	0.0028	0.0003	0	5.896e-05	0.0055	0.0003	0.0011	0.0002	0.0005	0.0005	0.0003	0.0006	0.0027	0.0004	0.0004	0.0020	0.0018	0.0001	0	0.0027	0	0	0	0	0.0003	0.0024	0	0.01	0.56456	D	0.033	0.53072	D	0.978	0.58756	D	0.226	0.38054	B	0.096460	0.20075	N	0.501648	0.980531	0.25105	N	0.695	0.17993	N	2.42	0.15376	T	-2.19	0.49352	N	0.205	0.22742	-1.0395	0.17465	T	0.021	0.08824	T	10	0.009257555	0.00209	T	0.016739	0.38138	T	0.088	0.25558	.	.	0.182106788282	0.17826	0.4083734857680352	0.40753	0.367003839707	0.38272	0.537978053093	0.44160	T	0.234683	0.60177	T	-0.516806	0.00459	T	-0.52068	0.20226	T	0.041947418534338	0.04044	T	0.916908	0.70254	D	0.1328657	0.30924	0.08510369	0.19625	0.1328657	0.30924	0.08510369	0.19624	-7.734	0.59244	D	.	.	0.112	0.22061	B	.	.	3.798668	0.54724	23.5	0.99892422785053359	0.96589	0.88034	0.47789	D	AEFDBCI	0.434969	0.49580	N	0.09909109862296	0.46419	2.882617	0.149827379583211	0.47133	2.948156	0.999996226488679	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	4.78	3.81	0.43020	2.290000	0.43193	1.011000	0.23332	0.599000	0.40250	0.997000	0.40164	0.997000	0.33255	0.066000	0.16387	0.3445:0.5478:0.0:0.1077	4.739	0.12380	20	0.98525	.	.	.	.	.	.	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	0.02381	1084.98	43	chr3	47411282	.	C	T	1084.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.727;DP=982;ExcessHet=0.0000;FS=0.795;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=0.031;SOR=0.557	GT:AD:DP:GQ:PL	0/1:51,42:93:99:1099,0,1309	20	0	1	0
chr3	49016632	49016632	T	C	exonic	DALRD3	.	nonsynonymous SNV	DALRD3:NM_001009996:exon7:c.A1043G:p.H348R	.	.	424	1097	0	1	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.006	B	0.006	B	0.001	N	0.999	N	1.61	L	0.97	T	-1.041	T	0.075	T	0.105	0.476	6.585	0.938	0.015	0.175	5.021	0.020	0.0119162365192	7.7e-05	.	8.839e-06	0	0	0	0	1.549e-05	0	0	6.5e-06	1	154602	rs372925729	6.272e-06	6.156e-06	8.284e-06	4.221e-06	0.0004	2.95e-06	2.14e-06	6.226e-05	2.571e-05	0	0	0	0	0	0.0004	3.645e-06	1.691e-05	2.444e-05	6.571e-06	6.567e-06	0	1.345e-05	6.544e-05	0	0	.	.	0	0	6.544e-05	0	0	0	0	0	0	0	0.13	0.30656	T	0.159	0.35710	T	0.002	0.13644	B	0.006	0.12133	B	0.000787	0.41772	N	0.247838	0.99908	0.21650	N	1.63	0.41750	L	0.95	0.43672	T	-2.85	0.62976	D	0.208	0.23125	-1.0411	0.16981	T	0.075	0.30117	T	10	0.05476886	0.05883	T	0.011916	0.30017	T	0.020	0.03691	.	.	0.222439326576	0.21863	0.2880071393449389	0.28713	0.219170569636	0.24457	0.363842248917	0.19944	T	0.064459	0.41501	T	-0.266127	0.12191	T	-0.620049	0.11182	T	0.060378590592364	0.07229	T	0.645735	0.25721	T	0.12000557	0.28247	0.120408945	0.29058	0.12000557	0.28247	0.120408945	0.29057	-5.875	0.50945	T	.	.	0.096	0.15385	B	.;.;.;.	.;.;.;.	1.084016	0.14671	11.23	0.79378501804716306	0.12714	0.31754	0.24417	N	AEFDGBHCI	0.144795	0.26785	N	-0.862437381965177	0.11746	0.5685227	-0.894021394274965	0.12235	0.6281724	0.999997306540112	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.81	0.938	0.18625	0.049000	0.13983	0.153000	0.15315	0.665000	0.62972	0.036000	0.20778	0.021000	0.20819	0.612000	0.31691	0.0:0.2479:0.1458:0.6062	5.021	0.13700	0	0.99858	.;.;.;.	.	.	.	.	.	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	0.02381	1398.98	49	chr3	49016632	.	T	C	1398.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.138e+00;DP=972;ExcessHet=0.0000;FS=0.611;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.33;ReadPosRankSum=-1.497e+00;SOR=0.751	GT:AD:DP:GQ:PL	0/1:91,59:150:99:1413,0,2529	20	0	1	0
chr3	49325031	49325031	C	T	exonic	USP4	.	nonsynonymous SNV	USP4:NM_001251877:exon5:c.G496A:p.E166K	.	.	427	1094	0	1	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	1.0	D	0.967	D	0.000	D	1.000	D	2.215	M	2.2	T	-0.895	T	0.185	T	0.854	3.755	19.07	5.32	2.502	7.717	17.582	0.241	0.016694402702	7.7e-05	.	4.965e-05	0	0	0	0	9.018e-05	0	0	4.53e-05	7	154602	rs375855632	4.724e-05	4.788e-05	5.313e-05	4.128e-05	0.0003	3.796e-05	3.478e-05	6.117e-05	3.838e-05	0	2.251e-05	0	0	0	0.0003	5.397e-05	6.629e-05	2.319e-05	3.945e-05	3.941e-05	3.856e-05	4.039e-05	6.556e-05	1.716e-05	1.13e-05	1.972e-05	1.124e-05	2.416e-05	0	6.556e-05	0	0	0	0	5.88e-05	0	0	0.232	0.36509	T	0.838	0.59159	T	1.0	0.90584	D	0.967	0.71530	D	0.000018	0.62929	D	0.149728	1	0.81001	D	2.875	0.83380	M	2.08	0.29342	T	-2.37	0.62976	N	0.786	0.78262	-0.8952	0.48465	T	0.185	0.53451	T	10	0.6692857	0.70615	D	0.016694	0.38065	T	0.241	0.54641	.	.	0.736438693648	0.73408	0.8182426573601649	0.81781	0.36859166617	0.38407	0.880185306072	0.93985	D	0.172217	0.52063	T	0.0773496	0.61730	D	0.0296967	0.72258	D	0.899803578853607	0.55218	D	0.988501	0.96904	D	0.37045395	0.58618	0.20828098	0.45123	0.37045395	0.58619	0.20828098	0.45122	-10.55	0.78077	D	.	.	0.520	0.68896	A	.;.;.;.	.;.;.;.	4.735734	0.76327	26.5	0.9986753646139872	0.94547	0.98989	0.89614	D	AEFDGBI	0.910945	0.86955	D	0.631039521783485	0.75147	6.254804	0.616508547350819	0.76138	6.436128	0.999999999999781	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	7.905000	0.86479	7.701000	0.66289	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:1.0:0.0:0.0	17.582	0.87870	1	0.99630	Ubiquitin-like domain, USP-type;Ubiquitin-like domain, USP-type;.;Ubiquitin-like domain, USP-type	.	.	.	.	.	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	0.02381	807.98	34	chr3	49325031	.	C	T	807.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.268;DP=783;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.38;ReadPosRankSum=-1.790e-01;SOR=0.725	GT:AD:DP:GQ:PL	0/1:38,33:71:99:822,0,976	20	0	1	0
chr3	49358244	49358246	GCC	-	exonic	GPX1	.	nonframeshift deletion	GPX1:NM_001329455:exon1:c.33_35del:p.A13del,	Hemolytic anemia due to glutathione peroxidase deficiency, Autosomal recessive	.	33	116	273	343	757	1716	0.805206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	62247.2	96	chr3	49358240	.	GGCCGCC	G,GGCC	62247.2	.	AC=20,13;AF=0.476,0.310;AN=42;BaseQRankSum=0.442;DP=2322;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=20,13;MLEAF=0.476,0.310;MQ=56.82;MQRankSum=-5.003e+00;QD=32.09;ReadPosRankSum=-2.300e-01;SOR=0.702	GT:AD:DP:GQ:PL	1/2:0,53,55:108:99:4459,2257,2190,2212,0,2057	0	4	6	0
chr3	49721030	49721030	A	G	exonic	RNF123	.	nonsynonymous SNV	RNF123:NM_022064:exon38:c.A3749G:p.E1250G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.995	D	0.000	D	1.000	D	2.885	M	-0.44	T	0.138	D	0.509	D	0.781	4.373	23.1	4.39	1.976	8.588	13.248	0.560	0.194543327456	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	6.84e-07	1.362e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.54683	D	0.055	0.60337	T	0.999	0.77913	D	0.995	0.83170	D	0.000065	0.52346	D	0.121832	1	0.81001	D	3.07	0.87108	M	-0.44	0.69777	T	-2.5	0.65742	D	0.69	0.74735	0.138	0.84840	D	0.509	0.81551	D	10	0.6155852	0.67687	D	0.194543	0.86369	D	0.560	0.81946	0.319	0.29741	0.461122776993	0.45736	0.5826215934833041	0.58191	0.984526789669	0.73857	0.730415225029	0.71566	T	0.044523	0.26842	T	0.229125	0.76640	D	0.0913453	0.76335	D	0.983700692653656	0.75272	D	0.884611	0.60805	D	0.2063693	0.42809	0.23982549	0.49341	0.2063693	0.42809	0.23982549	0.49340	-7.942	0.60674	D	.	.	0.653	0.76474	P	.;.	.;.	5.300598	0.88993	29.8	0.99915403139896231	0.98379	0.98451	0.82913	D	AEFDGBHCI	0.938412	0.93756	D	0.823768782596189	0.87568	9.263444	0.742905481300861	0.85625	8.637093	0.999999999986239	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.39	4.39	0.52211	8.534000	0.90429	11.073000	0.85618	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	13.248	0.59465	1	0.99630	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2152.98	33	chr3	49721030	.	A	G	2152.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.597e+00;DP=910;ExcessHet=0.0000;FS=5.046;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.04;ReadPosRankSum=-2.540e-01;SOR=0.467	GT:AD:DP:GQ:PL	0/1:106,89:195:99:2167,0,2866	20	0	1	0
chr3	58123253	58123253	C	T	exonic	FLNB	.	nonsynonymous SNV	FLNB:NM_001164317:exon21:c.C3287T:p.S1096F	Atelosteogenesis, type I, Autosomal dominant;Atelosteogenesis, type III, Autosomal dominant;Boomerang dysplasia, Autosomal dominant;Larsen syndrome, Autosomal dominant;Spondylocarpotarsal synostosis syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	889499	FLNB-Related_Spectrum_Disorders|not_provided	MedGen:CN239400|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.605	H	-1.93	D	0.868	D	0.838	D	0.979	4.008	20.5	5.66	2.824	7.772	20.116	0.836	0.212334093352	.	.	1.648e-05	0	0	0	0	1.499e-05	0	6.056e-05	1.29e-05	2	154602	rs749249092	5.472e-06	5.472e-06	6.806e-06	4.125e-06	5.396e-06	2.35e-06	1.7e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	3.311e-05	0	6.567e-06	6.562e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.0	0.91255	D	0.001	0.83351	D	0.999	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.54	0.93167	H	-1.93	0.84842	D	-4.33	0.77470	D	0.879	0.89912	0.868	0.95246	D	0.838	0.94592	D	10	0.8749278	0.86778	D	0.212334	0.87350	D	0.836	0.94840	0.521	0.62368	0.971603011503	0.97129	0.663924954692608	0.66329	0.946704540343	0.72437	0.887206554413	0.94907	D	0.809667	0.95230	D	0.459366	0.92898	D	0.437557	0.93254	D	0.992561519145966	0.83076	D	0.959604	0.84807	D	0.61770636	0.73640	0.66202015	0.80193	0.61770636	0.73641	0.66202015	0.80194	-9.313	0.70853	D	0.6809258782522973	0.75729	0.458	0.65850	A	.;.;.;.;.	.;.;.;.;.	4.666417	0.74536	26.2	0.99841611973354616	0.92229	0.96067	0.67383	D	AEFDGBHCI	0.936467	0.93282	D	0.923032134360262	0.92840	11.66168	0.82028715274025	0.91168	10.75152	1.0	0.98316	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.66	5.66	0.87293	7.902000	0.86082	7.622000	0.62351	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.335000	0.25317	0.0:1.0:0.0:0.0	20.116	0.97929	416	0.81733	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1965.98	33	chr3	58123253	.	C	T	1965.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.62;DP=886;ExcessHet=0.0000;FS=0.547;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.74;ReadPosRankSum=-8.740e-01;SOR=0.755	GT:AD:DP:GQ:PL	0/1:104,79:183:99:1980,0,2655	20	0	1	0
chr3	64541599	64541599	T	C	exonic	ADAMTS9	.	nonsynonymous SNV	ADAMTS9:NM_001318781:exon33:c.A5135G:p.K1712R	.	.	429	1075	18	0	0	18	0.00830258	.	.	1241570	not_provided|ADAMTS9-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.11	T	0.006	B	0.03	B	0.004	N	1.000	D	0.56	N	2.25	T	-1.132	T	0.010	T	0.143	0.705	7.761	3.39	0.459	1.366	5.296	0.024	.	0.0013	0.0313498	0.0204	0.0017	0.1036	0.0776	0.0030	0.0012	0.0166	0.0288	0.0194176	3002	154602	rs17070967	0.0078	0.0078	0.0075	0.0081	0.0914	0.0077	0.0077	0.0891	0.0881	0.0014	0.0914	0.0027	0.0835	0.0031	0.0026	0.0006	0.0088	0.0295	0.0099	0.0099	0.0082	0.0117	0.0773	0.0095	0.0093	0.0710	0.0686	0.0025	0	0.0452	0.0038	0.0773	0.0050	0	0.0007	0.0132	0.0361	0.242	0.17940	T	0.323	0.19421	T	0.006	0.13644	B	0.02	0.19048	B	0.004360	0.33837	N	0.318094	0.973815	0.25526	N	1.18	0.29980	L	2.25	0.17761	T	-1.38	0.34198	N	0.068	0.04072	-1.1322	0.01680	T	0.010	0.03492	T	10	0.0030217767	0.00049	T	.	.	.	0.024	0.04979	.	.	.	.	0.28727381798873325	0.28640	0.156171107073	0.17626	0.254748165607	0.04284	T	0.06255	0.31945	T	-0.641738	0.00081	T	-0.62163	0.11057	T	0.00306043882368561	0.00032	T	0.670533	0.27914	T	0.057323724	0.11395	0.073475905	0.15969	0.057323724	0.11395	0.073475905	0.15969	-3.694	0.19230	T	.	.	0.067	0.02578	B	.;.	.;.	1.426334	0.18436	13.74	0.98213520132379695	0.39237	0.68520	0.33833	D	AEFBI	0.242300	0.36377	N	-0.188898386300638	0.33596	1.907781	-0.143802682917285	0.33648	1.926929	0.0174788354325308	0.12955	0.562547	0.31514	0	0.59043	0.45803	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.75	3.39	0.37919	1.178000	0.31590	2.307000	0.32053	0.665000	0.62972	0.998000	0.41325	1.000000	0.68203	0.384000	0.26424	0.13:0.139:0.0:0.731	5.296	0.15062	839	0.37672	Peptidase M12B, GON-ADAMTSs|Peptidase M12B, GON-ADAMTSs;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1822.11	67	chr3	64541599	.	T	C	1822.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.016e+00;DP=1456;ExcessHet=0.1072;FS=2.654;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.80;ReadPosRankSum=0.391;SOR=0.511	GT:AD:DP:GQ:PL	0/1:55,51:106:99:1262,0,1433	19	0	2	0
chr3	69071536	69071536	T	C	exonic	UBA3	.	nonsynonymous SNV	UBA3:NM_001363861:exon3:c.A223G:p.R75G	.	.	.	.	.	.	.	.	.	0.9949	0.922	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.991	D	0.000	D	1.000	D	2.41	M	1.43	T	-0.738	T	0.189	T	0.947	4.038	20.7	5.57	2.248	4.257	11.550	0.505	0.0540592811444	.	.	2.837e-05	0	0.0002	0	0	1.745e-05	0	0	1.94e-05	3	154602	rs748533431	3.017e-05	3.08e-05	2.795e-05	3.238e-05	0.0016	2.244e-05	2.02e-05	0.0009	0.0006	0	0.0002	0	0	0	0.0016	2.001e-05	5.311e-05	2.645e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.13	0.59329	M	1.43	0.32958	T	-6.7	0.92476	D	0.751	0.77413	-0.7377	0.58570	T	0.189	0.54079	T	10	0.8504158	0.84217	D	0.054059	0.65709	D	0.505	0.78662	0.723	0.85761	0.796804699127	0.79491	0.8719637933063573	0.87162	0.914013942472	0.71174	0.660774946213	0.61520	T	0.194631	0.79470	T	0.0527794	0.58699	T	0.122751	0.78416	D	0.726139485836029	0.42011	D	0.982002	0.93887	D	0.90901446	0.92203	0.8033425	0.88480	0.90901446	0.92204	0.8033425	0.88481	-14.539	0.94676	D	.	.	0.872	0.80970	P	.;.;.;.	.;.;.;.	5.612395	0.92540	32	0.99905393094791828	0.97651	0.95570	0.65249	D	AEFBI	0.699871	0.65708	D	0.733308278577037	0.81815	7.611597	0.702650016789424	0.82578	7.802312	0.999999453104367	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.57	5.57	0.84021	4.265000	0.58663	6.199000	0.54868	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.266:0.734	11.550	0.49966	357	0.85079	THIF-type NAD/FAD binding fold;THIF-type NAD/FAD binding fold;.;THIF-type NAD/FAD binding fold	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	715.98	33	chr3	69071536	.	T	C	715.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.030e+00;DP=799;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.42;ReadPosRankSum=-4.000e-01;SOR=0.656	GT:AD:DP:GQ:PL	0/1:49,36:85:99:730,0,1175	20	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	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	49921.47	133	chr3	75730451	.	T	G	49921.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-1.927e+00;DP=2763;ExcessHet=51.1880;FS=6.167;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=54.60;MQRankSum=-6.357e+00;QD=18.50;ReadPosRankSum=1.68;SOR=0.393	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,47:125:99:0|1:75730450_C_T:1637,0,3103:75730450	0	0	20	1
chr3	75730611	75730611	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001324027:exon7:c.C2236A:p.L746I,	.	.	434	899	189	0	0	189	0.0951183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0330413	860	26028	rs73841587	5.455e-06	4.771e-06	3.964e-06	6.718e-06	9.364e-05	1.45e-06	4e-07	2.481e-05	1.287e-05	0	0	0	9.364e-05	0	0	0	0	0	6.571e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.418e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1725.72	84	chr3	75730611	.	G	T	1725.72	.	AC=10;AF=0.250;AN=40;BaseQRankSum=0.901;DP=1563;ExcessHet=6.1002;FS=32.590;InbreedingCoeff=-0.3415;MLEAC=10;MLEAF=0.250;MQ=56.09;MQRankSum=-5.845e+00;QD=2.20;ReadPosRankSum=-2.408e+00;SOR=8.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,7:88:50:0|1:75730591_G_A:50,0,3380:75730591	10	0	10	1
chr3	75736920	75736920	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2703T:p.E901D	.	.	404	577	541	0	0	541	0.319174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.111	B	0.006	B	.	.	1.000	N	0	N	3.39	T	-0.948	T	0.010	T	0.567	0.479	6.601	-0.249	-0.078	-0.941	3.115	0.103	0.00110452594305	.	.	.	.	.	.	.	.	.	.	0.071231	1854	26028	rs111230396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	0.14497	T	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.23	0.06931	T	-1.02	0.26843	N	0.085	0.06190	-0.9483	0.41263	T	0.010	0.03627	T	9	0.058318764	0.06838	T	0.001105	0.01312	T	0.103	0.29403	.	.	0.0138822411134	0.00435	0.0015786287646668746	0.00145	.	.	0.445909142494	0.31386	T	.	.	.	-0.17615	0.24310	T	-0.490804	0.23306	T	0.0638085464059829	0.07754	T	0.121888	0.00944	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23500	B	.	.	0.610910	0.09792	6.559	0.89825184067637265	0.19134	0.00196	0.01131	N	AEFDBCI	0.022523	0.01136	N	-1.22540343885655	0.04634	0.2095599	-1.32633955667091	0.04093	0.1923357	0.999959091878699	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	0.741	-0.249	0.12368	1.331000	0.33398	.	.	0.482000	0.22156	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.6566:0.0:0.3434	3.115	0.05989	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28820.74	164	chr3	75736920	.	C	A	28820.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.130e-01;DP=3467;ExcessHet=54.0936;FS=2.025;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.55;MQRankSum=-8.791e+00;QD=8.35;ReadPosRankSum=0.030;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,10:138:35:0|1:75736920_C_A:35,0,5324:75736920	0	0	21	0
chr3	75736928	75736928	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2695A:p.V899I	.	.	411	571	539	1	0	541	0.32145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.219	B	0.007	B	.	.	1.000	N	0	N	3.47	T	-0.947	T	0.008	T	0.512	0.877	8.556	0.364	0.148	-0.065	3.729	0.112	0.00121036639884	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74593105	0.0001	0.0002	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	0.0008	8.267e-05	0	8.274e-05	0	0.0026	8.845e-05	0.0003	0.0004	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0	0	0	0	0	0.0001	0	0.0006	0.38	0.11191	T	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.32	0.06214	T	0.07	0.06138	N	0.026	0.00527	-0.9474	0.41414	T	0.008	0.02926	T	9	0.09491852	0.16914	T	0.00121	0.01583	T	0.112	0.31546	.	.	0.0138822411134	0.00435	7.206520044993825E-4	0.00066	.	.	0.389449685812	0.23592	T	.	.	.	-0.217344	0.18358	T	-0.549976	0.17329	T	0.104380803558879	0.12832	T	0.0709929	0.00518	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08948	B	.	.	0.653467	0.10217	6.957	0.91771767316116259	0.21074	0.00105	0.00673	N	AEFDBCI	0.020476	0.00813	N	-1.22446334774296	0.04648	0.2101895	-1.31163951798627	0.04279	0.2014874	0.999941810098761	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.29	0.364	0.15359	-0.265000	0.08671	.	.	0.482000	0.22156	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7401:0.0:0.2599	3.729	0.08012	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28464.74	166	chr3	75736928	.	C	T	28464.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.43;DP=3516;ExcessHet=54.0936;FS=0.608;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.92;MQRankSum=-9.076e+00;QD=8.18;ReadPosRankSum=-5.000e-02;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,13:144:99:0|1:75736920_C_A:152,0,5462:75736920	0	0	21	0
chr3	75736981	75736981	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2642G:p.Q881R	.	.	394	765	361	2	0	365	0.192612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.02	B	0.004	B	.	.	1.000	N	0	N	5.46	T	-0.923	T	0.002	T	0.494	-0.366	2.277	-0.78	-0.138	-1.375	1.651	0.100	0.000733824032747	.	.	.	.	.	.	.	.	.	.	0.0486399	1266	26028	rs75085872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.06935	T	0.328	0.18675	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.46	0.00959	T	-0.86	0.23372	N	0.037	0.01135	-0.9235	0.45070	T	0.002	0.00526	T	9	0.048223555	0.04243	T	7.34E-4	0.00491	T	0.100	0.28662	.	.	0.0138822411134	0.00435	5.567766943860148E-4	0.00051	.	.	0.401793837547	0.25319	T	.	.	.	-0.241342	0.15177	T	-0.584447	0.14150	T	0.043195366142589	0.04273	T	0.0990901	0.00735	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.45665	B	.	.	0.535899	0.09045	5.828	0.71875029535553825	0.09778	0.00552	0.02527	N	AEFDBHCI	0.039909	0.05861	N	-1.49109708187503	0.01912	0.08392857	-1.53516138275096	0.02080	0.09511815	0.999952974710247	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.0	0.00061	3	0.264475	0.05362	3	.	.	1.92	-0.78	0.10416	-4.136000	0.00326	.	.	-1.203000	0.01359	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2929:0.1901:0.0:0.5171	1.651	0.02605	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	17679.81	152	chr3	75736981	.	T	C	17679.81	.	AC=17;AF=0.500;AN=34;BaseQRankSum=-2.640e-01;DP=3565;ExcessHet=25.1139;FS=0.572;InbreedingCoeff=-0.8248;MLEAC=19;MLEAF=0.559;MQ=52.43;MQRankSum=-7.792e+00;QD=6.08;ReadPosRankSum=-1.711e+00;SOR=0.773	GT:AD:DP:GQ:PL	0/1:133,22:155:99:176,0,4037	0	0	17	4
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K	.	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.049	B	0.048	B	.	.	1.000	N	-0.705	N	2.16	T	-0.957	T	0.015	T	0.509	0.585	7.159	-0.008	0.009	-2.650	2.041	0.117	0.0010545400782	.	.	.	.	.	.	.	.	.	.	0.0444521	1157	26028	rs75096310	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.934	0.02228	T	0.289	0.21078	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.16	0.19166	T	-0.66	0.19085	N	0.072	0.04547	-0.9570	0.39735	T	0.015	0.05946	T	9	0.029257268	0.01053	T	0.001055	0.01191	T	0.117	0.32689	.	.	0.0138822411134	0.00435	0.0019455304358727955	0.00180	.	.	0.341237813234	0.16623	T	.	.	.	-0.238107	0.15590	T	-0.5798	0.14563	T	0.0632113878371354	0.07664	T	0.059894	0.00434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26200	B	.	.	1.575632	0.20165	14.62	0.84215655419281732	0.15163	0.00232	0.01297	N	AEFDBHCI	0.027833	0.02344	N	-1.41055986614139	0.02545	0.1125291	-1.43935631045541	0.02868	0.1327212	0.999943869570154	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.756233	0.99697	0	.	.	1.92	-0.00832	0.13329	-3.006000	0.00714	.	.	-1.281000	0.01268	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2577:0.4021:0.0:0.3403	2.041	0.03335	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	25498.56	170	chr3	75737012	.	C	T	25498.56	.	AC=19;AF=0.475;AN=40;BaseQRankSum=-8.280e-01;DP=3725;ExcessHet=36.0830;FS=0.550;InbreedingCoeff=-0.8529;MLEAC=19;MLEAF=0.475;MQ=53.26;MQRankSum=-5.813e+00;QD=7.76;ReadPosRankSum=-2.080e-01;SOR=0.798	GT:AD:DP:GQ:PL	0/1:114,39:153:99:735,0,3557	1	0	19	1
chr3	75737060	75737060	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2563C:p.S855P	.	.	379	596	534	13	0	560	0.319635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.178	B	0.056	B	.	.	1.000	N	2.8	M	3.15	T	-1.043	T	0.033	T	0.597	1.732	11.75	1.59	1.020	-3.336	7.316	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	33734.43	171	chr3	75737060	.	A	G	33734.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.003e+00;DP=4296;ExcessHet=43.6797;FS=0.535;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=53.79;MQRankSum=-5.923e+00;QD=8.57;ReadPosRankSum=1.41;SOR=0.754	GT:AD:DP:GQ:PL	0/1:129,65:194:99:1174,0,4182	1	0	20	0
chr3	75737092	75737092	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2531A:p.C844Y	.	.	382	490	638	12	0	662	0.403167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	.	.	1.000	N	3.55	H	-1.94	D	-0.050	T	0.770	D	0.423	2.226	13.40	0.518	0.202	3.803	5.69	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	66693.74	186	chr3	75737092	.	C	T	66693.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.370e+00;DP=4347;ExcessHet=54.0936;FS=3.268;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.30;MQRankSum=-9.287e+00;QD=15.47;ReadPosRankSum=0.780;SOR=0.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,75:212:99:0|1:75737092_C_T:2715,0,5497:75737092	0	0	21	0
chr3	75737094	75737094	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2529T:p.R843S	.	.	386	488	636	12	0	660	0.403423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.0	B	0.003	B	.	.	0.811	N	0.185	N	2.5	T	-0.966	T	0.015	T	0.48	0.761	8.026	-1.65	-0.344	-3.350	0.098	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	66461.74	187	chr3	75737094	.	T	A	66461.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.054e+00;DP=4329;ExcessHet=54.0936;FS=4.136;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.41;MQRankSum=-9.552e+00;QD=15.42;ReadPosRankSum=0.880;SOR=0.976	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,76:213:99:0|1:75737092_C_T:2757,0,5515:75737092	0	0	21	0
chr3	75737105	75737105	T	A	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.A2518T:p.K840X	.	.	386	483	643	10	0	663	0.406998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	6.506	37	1.59	1.020	2.954	7.316	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	64403.74	176	chr3	75737105	.	T	A	64403.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.795e+00;DP=4269;ExcessHet=54.0936;FS=5.083;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.87;MQRankSum=-1.015e+01;QD=15.17;ReadPosRankSum=0.373;SOR=1.023	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,74:211:99:0|1:75737092_C_T:2695,0,5530:75737092	0	0	21	0
chr3	75737127	75737127	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2496G:p.H832Q	.	.	384	545	585	8	0	601	0.355411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.738	P	0.672	P	.	.	1.000	N	3.595	H	-2.18	D	0.069	D	0.747	D	0.504	1.222	9.956	0.372	0.124	0.275	4.797	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	54907.74	170	chr3	75737127	.	A	C	54907.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.246e+00;DP=4011;ExcessHet=54.0936;FS=5.236;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.48;MQRankSum=-1.090e+01;QD=13.78;ReadPosRankSum=0.018;SOR=1.116	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,65:205:99:0|1:75737092_C_T:2308,0,5683:75737092	0	0	21	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del	.	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	31686.7	129	chr3	75737163	.	CCTACATTCT	C	31686.7	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.49;DP=3384;ExcessHet=54.0936;FS=14.269;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.84;MQRankSum=-1.107e+01;QD=9.48;ReadPosRankSum=-6.730e-01;SOR=1.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,42:181:99:0|1:75737092_C_T:1345,0,5701:75737092	0	0	21	0
chr3	75737363	75737363	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2260A:p.G754R	.	.	377	1138	6	1	0	8	0.00350263	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.999	D	0.976	D	.	.	1.000	N	1.34	L	1.75	T	-1.036	T	0.096	T	0.407	2.714	15.04	0.671	0.260	3.782	6.241	0.139	.	.	0.00179712	0.0058	0	0	0	0	0.0004	0.0192	0.0199	0.0003458	9	26028	rs575574342	0.0004	0.0004	0.0002	0.0006	0.0055	0.0004	0.0004	0.0050	0.0049	0	0.0003	3.971e-05	5.592e-05	0	0.0016	8.615e-05	0.0006	0.0055	0.0003	0.0003	0.0002	0.0004	0.0052	0.0002	0.0002	0.0036	0.0031	4.814e-05	0	0.0007	0	0	0	0	0.0001	0.0005	0.0052	0.067	0.35918	T	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.75	0.26152	T	-5.06	0.82764	D	0.168	0.17828	-1.0355	0.18700	T	0.096	0.36133	T	9	0.0059641004	0.00134	T	.	.	.	0.139	0.37390	.	.	0.104622674875	0.10061	0.00980961737648959	0.00942	.	.	0.490419387817	0.37496	T	.	.	.	-0.136303	0.30480	T	-0.433566	0.29531	T	0.497169524431229	0.32526	T	0.310069	0.06017	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.48103	B	.	.	2.003985	0.25460	16.77	0.99586897620160397	0.73336	0.17469	0.19851	N	AEFDBHCI	0.354098	0.44629	N	-0.197768403212573	0.33227	1.882688	-0.455772624257434	0.23385	1.275013	0.999992681208829	0.74766	0.581397	0.33459	0	0.78372	0.99691	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.61	0.671	0.17097	3.019000	0.49318	.	.	0.415000	0.20742	0.034000	0.20669	0.000000	0.08366	0.001000	0.02609	0.0:0.8151:0.0:0.1849	6.241	0.20003	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1833.98	110	chr3	75737363	.	C	T	1833.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.11;DP=2668;ExcessHet=0.0000;FS=2.025;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.30;MQRankSum=3.92;QD=12.15;ReadPosRankSum=0.768;SOR=0.544	GT:AD:DP:GQ:PL	0/1:81,70:151:99:1848,0,2334	20	0	1	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S	.	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.588	P	0.118	B	.	.	1.000	N	0.78	N	3.45	T	-0.962	T	0.011	T	0.402	2.344	13.80	0.281	0.088	6.618	6.406	0.231	0.0020371222204	.	.	.	.	.	.	.	.	.	.	0.0847549	2206	26028	rs80089603	0.0009	0.0009	0.0010	0.0008	0.0241	0.0009	0.0009	0.0227	0.0221	0.0241	0.0014	0.0065	0.0009	0	0.0016	6.293e-05	0.0031	0.0001	0.0071	0.0074	0.0072	0.0070	0.0235	0.0067	0.0066	0.0223	0.0218	0.0235	0	0.0024	0.0084	0.0025	0	0.0034	4.409e-05	0.0071	0.0006	0.014	0.53172	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.28	0.06523	T	-2.65	0.56787	D	0.082	0.05799	-0.9616	0.38877	T	0.011	0.04274	T	9	0.0059270263	0.00133	T	0.002037	0.03721	T	0.231	0.53208	.	.	0.0297737177859	0.01360	0.030845822720570865	0.03033	.	.	0.227284103632	0.01773	T	.	.	.	-0.138909	0.30065	T	-0.437309	0.29111	T	0.612736403942108	0.36911	D	0.140186	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.	.	2.134754	0.27180	17.37	0.9793642767632269	0.36999	0.50764	0.28739	D	AEFDBHCI	0.281183	0.39482	N	-0.656716686745216	0.17265	0.8869353	-0.759493038371137	0.15489	0.8148735	0.999998040796218	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.27	0.281	0.14938	5.209000	0.65041	.	.	0.560000	0.28382	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7085:0.2915	6.406	0.20867	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	84334.74	182	chr3	75737519	.	G	A	84334.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.22;DP=4534;ExcessHet=54.0936;FS=3.213;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.20;MQRankSum=-6.820e+00;QD=19.56;ReadPosRankSum=0.348;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:101,104:205:99:.:.:3917,0,3898	0	0	21	0
chr3	75737590	75737590	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2033C:p.M678T	.	.	380	344	789	9	0	807	0.539799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.011	B	0.007	B	.	.	1.000	N	-0.05	N	3.17	T	-0.913	T	0.010	T	0.467	-0.210	2.980	-2.35	-0.437	-5.897	5.111	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	93431.74	214	chr3	75737590	.	A	G	93431.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-9.450e-01;DP=4965;ExcessHet=54.0936;FS=1.090;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=53.17;MQRankSum=-1.228e+01;QD=19.03;ReadPosRankSum=0.838;SOR=0.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,128:266:99:0|1:75737590_A_G:4948,0,5407:75737590	0	0	21	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R	.	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.003	B	0.003	B	.	.	1.000	N	-0.66	N	3.16	T	-0.950	T	0.008	T	0.327	0.845	8.413	-3.14	-1.861	-0.144	4.750	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	99264.74	227	chr3	75737608	.	T	C	99264.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.102;DP=5151;ExcessHet=54.0936;FS=0.516;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=52.90;MQRankSum=-1.341e+01;QD=19.33;ReadPosRankSum=0.322;SOR=0.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,129:279:99:0|1:75737590_A_G:4898,0,5898:75737590	0	0	21	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S	.	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.89	P	0.451	P	.	.	1.000	N	2.965	M	2.96	T	-1.054	T	0.045	T	0.468	1.519	11.03	0.405	0.127	-1.802	5.213	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	101560.74	248	chr3	75737622	.	T	A	101560.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.388e+00;DP=5296;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=53.40;MQRankSum=-1.311e+01;QD=19.29;ReadPosRankSum=-1.560e-01;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:153,122:277:99:.:.:4626,0,5957	0	0	21	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C	.	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.994	D	0.387	B	.	.	1.000	N	1.355	L	5.42	T	-0.871	T	0.003	T	0.447	0.648	7.478	0.774	0.291	-3.025	2.500	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	104187.74	246	chr3	75737651	.	G	A	104187.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.82;DP=5303;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.27;MQRankSum=-1.184e+01;QD=19.78;ReadPosRankSum=-8.750e-01;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,116:272:99:0|1:75737651_G_A:4401,0,6201:75737651	0	0	21	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X	.	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	6.220	37	1.71	1.073	0.059	3.984	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	99202.74	235	chr3	75737676	.	A	T	99202.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.21;DP=4967;ExcessHet=54.0936;FS=1.090;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.83;MQRankSum=-9.816e+00;QD=20.18;ReadPosRankSum=-1.028e+00;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,122:265:99:0|1:75737651_G_A:4685,0,5637:75737651	0	0	21	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K	.	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.87	P	0.559	P	.	.	1.000	N	1.11	L	3.2	T	-1.016	T	0.024	T	0.38	2.298	13.64	0.993	0.389	-0.570	6.443	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.475	53271.84	236	chr3	75737840	.	C	T	53271.84	.	AC=19;AF=0.475;AN=40;BaseQRankSum=-1.867e+00;DP=4970;ExcessHet=36.0830;FS=8.679;InbreedingCoeff=-0.8667;MLEAC=20;MLEAF=0.500;MQ=58.83;MQRankSum=-4.939e+00;QD=12.52;ReadPosRankSum=-2.000e-01;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:174,70:244:99:0|1:75737814_C_T:2384,0,6757:75737814	1	0	19	1
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R	.	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.035	B	0.038	B	.	.	1.000	N	4.015	H	-2.18	D	0.078	D	0.691	D	0.467	1.068	9.361	0.513	0.158	2.178	5.415	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	26024.74	185	chr3	75737881	.	T	C	26024.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.184e+00;DP=4449;ExcessHet=54.0936;FS=19.179;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.45;MQRankSum=-7.835e+00;QD=6.19;ReadPosRankSum=-4.722e+00;SOR=1.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:189,46:235:99:0|1:75737881_T_C:1138,0,7579:75737881	0	0	21	0
chr3	75737891	75737891	-	AAAT	exonic	ZNF717	.	frameshift insertion	ZNF717:NM_001128223:exon5:c.1731_1732insATTT:p.L578Ifs*16	.	.	353	691	477	1	0	479	0.257389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs369928577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	19918.7	193	chr3	75737891	.	G	GAAAT	19918.7	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.779;DP=4144;ExcessHet=54.0936;FS=22.520;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.28;MQRankSum=-8.489e+00;QD=4.94;ReadPosRankSum=-4.220e+00;SOR=2.002	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,36:222:99:0|1:75737881_T_C:850,0,7659:75737881	0	0	21	0
chr3	75737893	75737893	-	CTT	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.1729_1730insAAG:p.F577_P914del	.	.	356	680	485	1	0	487	0.263671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs373780316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	18824.7	191	chr3	75737893	.	A	ACTT	18824.7	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.081;DP=4075;ExcessHet=54.0936;FS=23.299;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.20;MQRankSum=-8.682e+00;QD=4.74;ReadPosRankSum=-3.534e+00;SOR=2.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:189,32:221:99:0|1:75737881_T_C:745,0,7754:75737881	0	0	21	0
chr3	75739165	75739165	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G458A:p.G153E	.	.	426	716	379	1	0	381	0.210149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.981	D	0.792	P	.	.	1.000	N	1.63	L	1.0	T	-1.005	T	0.128	T	0.5	0.800	8.209	0.059	0.039	0.285	5.008	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4524	5856.69	126	chr3	75739165	.	C	T	5856.69	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-8.800e-02;DP=2841;ExcessHet=36.0830;FS=16.853;InbreedingCoeff=-0.8321;MLEAC=19;MLEAF=0.452;MQ=57.03;MQRankSum=-7.844e+00;QD=2.33;ReadPosRankSum=-1.424e+00;SOR=1.267	GT:AD:DP:GQ:PL	0/1:120,20:140:99:190,0,3671	2	0	19	0
chr3	75739283	75739283	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C340A:p.Q114K	.	.	430	419	666	7	0	680	0.447958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.588	P	0.118	B	.	.	1.000	N	0.805	L	0.91	T	-1.039	T	0.052	T	0.501	-1.711	0.011	-0.13	-0.008	-0.013	8.996	0.115	0.00164498502106	.	.	.	.	.	.	.	.	.	.	0.0684647	1782	26028	rs4011155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.979	0.02012	T	0.602	0.07894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.91	0.44856	T	-0.17	0.09627	N	0.04	0.01347	-1.0394	0.17495	T	0.052	0.22269	T	9	0.04538721	0.03603	T	0.001645	0.02676	T	0.115	0.32236	.	.	0.0138822411134	0.00435	0.01612756142273845	0.01568	.	.	0.421879798174	0.28096	T	.	.	.	-0.0408301	0.45825	T	-0.296426	0.45101	T	0.177929786236283	0.19104	T	0.340666	0.07366	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43102	B	.	.	0.246741	0.06266	2.719	0.63846773733670814	0.07333	0.00471	0.02257	N	AEFDBCI	.	.	.	-0.990502388475167	0.08805	0.414299	-1.12680793005723	0.07191	0.3488778	0.99994075275372	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.002978	0.00130	3	0.264475	0.05362	3	.	.	2.13	-0.13	0.12839	0.783000	0.26463	.	.	0.493000	0.22426	0.008000	0.17931	0.055000	0.21918	0.006000	0.07323	0.0:0.4319:0.5681:0.0	8.996	0.35214	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	13994.74	75	chr3	75739283	.	G	T	13994.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.485e+00;DP=2154;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.74;MQRankSum=-4.923e+00;QD=6.68;ReadPosRankSum=0.840;SOR=0.744	GT:AD:DP:GQ:PL	0/1:62,32:94:99:572,0,1710	0	0	21	0
chr3	97875341	97875341	C	G	exonic	CRYBG3	.	nonsynonymous SNV	CRYBG3:NM_153605:exon4:c.C4147G:p.L1383V,	.	.	434	1080	8	0	0	8	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0249601	.	.	.	.	.	.	.	.	0.008414	219	26028	rs75843914	0.0046	0.0047	0.0038	0.0055	0.0702	0.0045	0.0045	0.0678	0.0669	0.0006	0.0213	0.0021	0.0702	0	0.0025	0.0002	0.0059	0.0425	0.0049	0.0050	0.0037	0.0062	0.0548	0.0046	0.0045	0.0496	0.0475	0.0009	0	0.0120	0.0014	0.0548	0	0.0034	0.0003	0.0043	0.0445	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00666	.	.	.	.	.	.	.	0.0036702454	0.00067	T	.	.	.	.	.	.	.	0.61907107664	0.61598	0.006938976387440674	0.00660	.	.	.	.	.	3.93E-4	0.00124	T	-0.592346	0.00162	T	-0.560261	0.16352	T	.	.	.	0.29697	0.05508	T	0.034461148	0.03870	0.09793139	0.23330	0.034461148	0.03870	0.09793139	0.23329	-3.433	0.15504	T	.	.	0.052	0.00239	B	.	.	-1.091764	0.00650	0.018	0.49300846330134845	0.04186	0.00533	0.02466	N	AEFBI	.	.	.	.	.	.	.	.	.	0.00212894333082125	0.09174	0.162113	0.03585	0	0.084543	0.02171	0	0.078618	0.02440	0	0.24566	0.04862	0	0.22281	0.31441	5.54	-1.58	0.08029	-0.145000	0.10248	-0.022000	0.12912	-0.791000	0.03245	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.2729:0.1138:0.4988:0.1145	3.049	0.05790	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2620.11	34	chr3	97875341	.	C	G	2620.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.088e+00;DP=1614;ExcessHet=0.1072;FS=10.744;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.97;ReadPosRankSum=1.21;SOR=0.298	GT:AD:DP:GQ:PL	0/1:54,55:109:99:1406,0,1523	19	0	2	0
chr3	98133457	98133460	CCCC	-	exonic	OR5H1	.	frameshift deletion	OR5H1:NM_001005338:exon1:c.760_763del:p.P254Ffs*31,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0036	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	9.04e-05	0	0	5.047e-05	0	0	0.0002	0.0001	4.649e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	3836.75	118	chr3	98133456	.	ACCCC	A,*	3836.75	.	AC=6,3;AF=0.143,0.071;AN=42;BaseQRankSum=-2.885e+00;DP=2067;ExcessHet=4.7172;FS=151.643;InbreedingCoeff=-0.2727;MLEAC=6,3;MLEAF=0.143,0.071;MQ=59.98;MQRankSum=0.00;QD=3.65;ReadPosRankSum=1.72;SOR=10.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,41,0:119:99:0|1:98133456_ACCCC_A:1202,0,3069,1437,3191,4628:98133456	12	0	6	0
chr3	98133456	98133460	ACCCC	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	3836.75	118	chr3	98133456	.	ACCCC	A,*	3836.75	.	AC=6,3;AF=0.143,0.071;AN=42;BaseQRankSum=-2.885e+00;DP=2067;ExcessHet=4.7172;FS=151.643;InbreedingCoeff=-0.2727;MLEAC=6,3;MLEAF=0.143,0.071;MQ=59.98;MQRankSum=0.00;QD=3.65;ReadPosRankSum=1.72;SOR=10.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,41,0:119:99:0|1:98133456_ACCCC_A:1202,0,3069,1437,3191,4628:98133456	12	0	6	0
chr3	98133457	98133457	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C760G:p.P254A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.151	B	0.232	B	0.355	N	1.000	N	0.99	L	8.7	T	-0.977	T	0.000	T	0.282	-0.269	2.712	-0.991	0.162	-0.392	0.252	0.060	0.000569954661155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.329e-05	0.0018	6.384e-05	4.27e-05	0.0002	4.354e-05	3.971e-05	8.053e-05	5.462e-05	0.0002	0	3.884e-05	0	0	0.0002	6.21e-05	1.708e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.39334	T	0.034	0.52727	D	0.151	0.28027	B	0.232	0.38314	B	0.354555	0.13763	N	0.638540	1	0.08975	N	0.41	0.12415	N	8.7	0.00113	T	-2.42	0.53096	N	0.208	0.23125	-0.9765	0.35794	T	0.000	0.00114	T	10	0.06313068	0.08178	T	5.7E-4	0.00233	T	0.060	0.17295	0.376	0.38994	0.151104730317	0.14643	0.05160260000435715	0.05102	0.305303193982	0.32830	0.232944488525	0.02193	T	0.007444	0.06846	T	-0.267429	0.12046	T	-0.62192	0.11035	T	0.254086643457413	0.23055	T	0.806719	0.45571	T	0.06336548	0.13335	0.05555225	0.09765	0.06336548	0.13334	0.05555225	0.09764	-3.319	0.13984	T	.	.	0.103	0.18331	B	.;.	.;.	1.419986	0.18368	13.70	0.79297022959657282	0.12678	0.03061	0.07965	N	AEFI	0.062772	0.12088	N	-0.896657213234765	0.10921	0.5243543	-0.985832915716643	0.10103	0.5067427	1.9149263690292E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	-0.991	0.09712	-0.193000	0.09572	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.3369:0.2611:0.1662:0.2358	0.252	0.00192	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3846	411.68	118	chr3	98133457	.	C	G,*	411.68	.	AC=1,9;AF=0.038,0.346;AN=26;BaseQRankSum=-3.267e+00;DP=1955;ExcessHet=6.1002;FS=151.643;InbreedingCoeff=-0.5000;MLEAC=1,12;MLEAF=0.038,0.462;MQ=60.00;MQRankSum=0.00;QD=0.36;ReadPosRankSum=2.36;SOR=10.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:78,0,41:119:99:0|1:98133456_ACCCC_A:1202,1437,4628,0,3191,3069:98133456	3	0	1	8
chr3	98133457	98133457	C	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3846	411.68	118	chr3	98133457	.	C	G,*	411.68	.	AC=1,9;AF=0.038,0.346;AN=26;BaseQRankSum=-3.267e+00;DP=1955;ExcessHet=6.1002;FS=151.643;InbreedingCoeff=-0.5000;MLEAC=1,12;MLEAF=0.038,0.462;MQ=60.00;MQRankSum=0.00;QD=0.36;ReadPosRankSum=2.36;SOR=10.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:78,0,41:119:99:0|1:98133456_ACCCC_A:1202,1437,4628,0,3191,3069:98133456	3	0	1	8
chr3	98133459	98133459	C	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3846	378.19	118	chr3	98133459	.	C	G,*	378.19	.	AC=1,9;AF=0.038,0.346;AN=26;BaseQRankSum=-1.973e+00;DP=1992;ExcessHet=6.1002;FS=147.603;InbreedingCoeff=-0.5184;MLEAC=1,12;MLEAF=0.038,0.462;MQ=60.00;MQRankSum=0.00;QD=0.33;ReadPosRankSum=2.40;SOR=10.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:78,0,41:119:99:0|1:98133456_ACCCC_A:1202,1437,4628,0,3191,3069:98133456	3	0	1	8
chr3	98133460	98133460	-	GGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGGG:p.L255Rfs*16,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,40,0,0,0,0:117:99:0|1:98133456_ACCCC_A:1189,0,3039,1421,3158,4578,1421,3158,4578,4578,1421,3158,4578,4578,4578,1421,3158,4578,4578,4578,4578:98133456	0	0	5	10
chr3	98133460	98133460	-	GGGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGGGG:p.L255Rfs*33,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,40,0,0,0,0:117:99:0|1:98133456_ACCCC_A:1189,0,3039,1421,3158,4578,1421,3158,4578,4578,1421,3158,4578,4578,4578,1421,3158,4578,4578,4578,4578:98133456	0	0	5	10
chr3	98133460	98133460	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C763G:p.L255V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	1.0	D	0.999	D	0.001	D	1.000	N	1.325	L	8.74	T	-0.730	T	0.001	T	0.254	0.426	6.315	3.57	1.818	-0.974	8.167	0.060	0.00117854807808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.962e-05	0.0018	9.935e-05	5.982e-05	0.0002	6.745e-05	6.308e-05	8.053e-05	7.118e-05	0.0002	0	0	2.539e-05	0	0	9.229e-05	6.835e-05	3.522e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.161	0.31326	T	1.0	0.90584	D	0.999	0.92359	D	0.000719	0.42254	D	0.000000	1	0.08975	N	1.055	0.26876	L	8.74	0.00084	T	-2.84	0.59873	D	0.082	0.05799	-0.7301	0.58959	T	0.001	0.00287	T	10	0.22429666	0.39230	T	0.001179	0.01509	T	0.060	0.17295	0.371	0.38176	0.298745278005	0.29478	0.048044440119727576	0.04747	0.654731206335	0.58542	0.272874593735	0.06519	T	0.007249	0.06665	T	-0.259952	0.12906	T	-0.61118	0.11889	T	0.845799565315247	0.49807	D	0.80082	0.44648	T	0.1752088	0.38366	0.14435342	0.34275	0.1752088	0.38366	0.14435342	0.34274	-3.447	0.15697	T	.	.	0.132	0.28492	B	.;.	.;.	2.299242	0.29417	18.12	0.98981953560601799	0.49760	0.02367	0.06739	N	AEFI	0.059639	0.11279	N	-0.196966090587521	0.33261	1.884947	-0.353468082146493	0.26402	1.458076	1.0108118885271E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	3.57	0.40014	-0.690000	0.05240	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.078000	0.17132	0.2395:0.7605:0.0:0.0	8.167	0.30391	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,40,0,0,0,0:117:99:0|1:98133456_ACCCC_A:1189,0,3039,1421,3158,4578,1421,3158,4578,4578,1421,3158,4578,4578,4578,1421,3158,4578,4578,4578,4578:98133456	0	0	5	10
chr3	98133460	98133460	-	GTGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGTGG:p.L255Rfs*16,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,40,0,0,0,0:117:99:0|1:98133456_ACCCC_A:1189,0,3039,1421,3158,4578,1421,3158,4578,4578,1421,3158,4578,4578,4578,1421,3158,4578,4578,4578,4578:98133456	0	0	5	10
chr3	98133460	98133460	-	GGTGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGTGG:p.L255Rfs*33,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,40,0,0,0,0:117:99:0|1:98133456_ACCCC_A:1189,0,3039,1421,3158,4578,1421,3158,4578,4578,1421,3158,4578,4578,4578,1421,3158,4578,4578,4578,4578:98133456	0	0	5	10
chr3	98133463	98133463	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C766G:p.L256V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.005	B	0.053	B	0.261	N	1.000	N	1.715	L	0.99	T	-1.004	T	0.079	T	0.179	-0.795	0.690	0.621	0.219	-0.776	1.131	0.026	0.00126498386421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.068	0.44106	T	0.005	0.12996	B	0.053	0.25678	B	0.261193	0.15311	N	0.542116	1	0.08975	N	0.915	0.23335	L	0.99	0.41750	T	-2.16	0.48850	N	0.126	0.11912	-1.0038	0.28814	T	0.079	0.31466	T	10	0.049896806	0.04644	T	0.001265	0.01708	T	0.026	0.05648	0.296	0.26041	0.128392430309	0.12331	0.03494044702375308	0.03441	0.301753269651	0.32506	0.278658390045	0.07306	T	0.006	0.05345	T	-0.262441	0.12617	T	-0.614755	0.11603	T	0.125886231660843	0.14996	T	0.469153	0.13854	T	0.1777599	0.38759	0.102822304	0.24655	0.1777599	0.38758	0.102822304	0.24654	-4.104	0.25349	T	.	.	0.129	0.31151	B	.;.	.;.	1.199857	0.15918	12.19	0.77165719573394564	0.11763	0.00876	0.03464	N	AEFI	0.031298	0.03314	N	-1.1071760963484	0.06514	0.3000934	-1.14194788532371	0.06913	0.3344078	1.71832632022719E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	0.621	0.16817	-1.594000	0.02198	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.108000	0.18652	0.1779:0.4335:0.1738:0.2148	1.131	0.01639	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	2747.51	121	chr3	98133463	.	C	G,T	2747.51	.	AC=6,1;AF=0.143,0.024;AN=42;BaseQRankSum=-4.760e+00;DP=1685;ExcessHet=2.5830;FS=151.643;InbreedingCoeff=-0.1887;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=3.50;ReadPosRankSum=2.02;SOR=10.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,40,0:119:99:0|1:98133456_ACCCC_A:1183,0,3035,1421,3154,4575:98133456	14	0	6	0
chr3	98133463	98133463	C	T	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C766T:p.L256F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.026	B	0.119	B	0.261	N	1.000	N	0.865	L	0.99	T	-1.030	T	0.062	T	0.114	-1.253	0.050	0.621	0.219	-0.776	1.131	0.024	0.00115650910057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.841e-07	0	1.376e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	0.12305	T	0.41	0.14544	T	0.026	0.19406	B	0.119	0.32162	B	0.261193	0.15311	N	0.542116	1	0.08975	N	-0.23	0.03940	N	0.99	0.41750	T	-1.08	0.28084	N	0.105	0.08925	-1.0300	0.20454	T	0.062	0.25708	T	10	0.04290554	0.03085	T	0.001157	0.01459	T	0.024	0.04979	0.375	0.38830	0.0762999501168	0.06990	0.0487108067063726	0.04814	0.321367064236	0.34338	0.290525436401	0.08999	T	0.00438	0.03788	T	-0.322622	0.06685	T	-0.701201	0.05761	T	0.424735397100449	0.29866	T	0.652935	0.26315	T	0.046653233	0.07844	0.04369084	0.05494	0.046653233	0.07844	0.04369084	0.05494	-3.928	0.22723	T	.	.	0.131	0.34004	B	.;.	.;.	0.632429	0.10007	6.762	0.62397499402890433	0.06952	0.02895	0.07685	N	AEFI	0.070478	0.13993	N	-1.21870644392077	0.04729	0.2140418	-1.22146664885687	0.05566	0.2655665	1.71832632022719E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	0.621	0.16817	-1.594000	0.02198	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.108000	0.18652	0.1779:0.4335:0.1738:0.2148	1.131	0.01639	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	2747.51	121	chr3	98133463	.	C	G,T	2747.51	.	AC=6,1;AF=0.143,0.024;AN=42;BaseQRankSum=-4.760e+00;DP=1685;ExcessHet=2.5830;FS=151.643;InbreedingCoeff=-0.1887;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=3.50;ReadPosRankSum=2.02;SOR=10.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,40,0:119:99:0|1:98133456_ACCCC_A:1183,0,3035,1421,3154,4575:98133456	14	0	6	0
chr3	99790960	99790960	T	C	exonic	COL8A1	.	nonsynonymous SNV	COL8A1:NM_020351:exon3:c.T278C:p.I93T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.002	B	0.007	B	0.626	N	0.999	N	0.55	N	-2.79	D	-0.614	T	0.561	D	0.252	3.430	17.60	5.86	2.241	5.505	14.197	0.239	0.0464175628527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.534e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.024	0.56640	D	0.002	0.09854	B	0.007	0.12992	B	0.626423	0.05786	N	1.175870	0.998827	0.21877	N	1.5	0.37844	L	-2.79	0.91019	D	-4.27	0.76254	D	0.444	0.48227	-0.6140	0.64238	T	0.561	0.84031	D	10	0.18345827	0.33673	T	0.046418	0.62447	D	0.239	0.54358	0.357	0.35897	0.924347348687	0.92358	0.366193068856577	0.36533	0.285142599056	0.30925	0.492204546928	0.37745	T	0.095194	0.53627	T	0.0488784	0.58199	T	-0.167566	0.57666	T	0.802636981010437	0.46533	D	0.765923	0.40508	T	0.12284405	0.28857	0.0740384	0.16153	0.12284405	0.28857	0.0740384	0.16153	-4.304	0.28232	T	.	.	0.398	0.59970	A	.;.;.;.	.;.;.;.	3.398026	0.47076	22.4	0.99758335663458786	0.84851	0.91648	0.53968	D	AEBCI	0.380408	0.46306	N	-0.289187463698073	0.29565	1.640657	-0.0947472757979899	0.35606	2.062034	0.99999992535184	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.573888	0.23631	0	0.711	0.71501	0	.	.	5.86	5.86	0.93936	5.505000	0.66698	5.012000	0.46677	0.665000	0.62972	0.997000	0.40164	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	14.197	0.65220	290	0.88477	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2	566.96	141	chr3	99790960	.	T	C	566.96	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-3.024e+00;DP=2798;ExcessHet=3.5521;FS=92.750;InbreedingCoeff=-0.2560;MLEAC=8;MLEAF=0.200;MQ=60.00;MQRankSum=0.00;QD=0.44;ReadPosRankSum=0.888;SOR=10.380	GT:AD:DP:GQ:PL	0/1:103,33:136:80:80,0,1774	12	0	8	1
chr3	100775333	100775333	T	C	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.A2182G:p.I728V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.217	B	0.064	B	0.130	N	1.000	N	0.69	N	2.23	T	-0.991	T	0.069	T	0.165	-0.071	3.653	-1.84	-0.269	-0.189	9.015	0.028	0.0042577872272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.40832	T	0.851	0.17064	T	0.11	0.26188	B	0.064	0.27215	B	0.129979	0.18676	N	0.542434	0.998149	0.23853	N	2.245	0.63543	M	2.23	0.22881	T	-0.36	0.13035	N	0.238	0.26837	-0.9907	0.32424	T	0.069	0.28113	T	10	0.1329661	0.25307	T	0.004258	0.10310	T	0.028	0.06331	0.178	0.08503	0.536287059136	0.53279	0.1284411164199673	0.12769	0.081923470924	0.09225	0.37267062068	0.21215	T	0.013394	0.13935	T	-0.217609	0.18322	T	-0.550357	0.17292	T	0.24375493824482	0.22591	T	0.640436	0.25296	T	0.023745567	0.01140	0.03538561	0.02781	0.023745567	0.01140	0.03538561	0.02780	.	.	.	.	.	0.112	0.22024	B	.;.;.	.;.;.	1.023665	0.14032	10.60	0.62105742636814754	0.06878	0.33788	0.24913	N	AEFDBIJ	0.088700	0.17982	N	-0.138409453698759	0.35730	2.055995	-0.25515300555331	0.29594	1.659267	0.971890519317384	0.29325	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.68	-1.84	0.07387	-0.061000	0.11650	0.266000	0.16602	-0.194000	0.09177	0.988000	0.36536	0.994000	0.32194	0.924000	0.46004	0.0:0.5259:0.0:0.4741	9.015	0.35326	722	0.55239	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4048	2827.45	43	chr3	100775333	.	T	C	2827.45	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-7.940e-01;DP=858;ExcessHet=25.1139;FS=205.111;InbreedingCoeff=-0.6641;MLEAC=17;MLEAF=0.405;MQ=60.00;MQRankSum=0.00;QD=4.20;ReadPosRankSum=0.283;SOR=11.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:32,11:43:8:.:.:8,0,648	4	0	17	0
chr3	105552476	105552476	A	G	exonic	ALCAM	.	nonsynonymous SNV	ALCAM:NM_001243280:exon13:c.A1516G:p.R506G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.118	B	0.026	B	0.006	N	0.782	D	0	N	1.25	T	-0.954	T	0.085	T	0.424	2.590	14.62	5.76	2.200	6.125	16.061	0.082	0.0117768431271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.85e-07	6.84e-07	1.363e-06	0	9.005e-07	0	0	.	.	0	0	0	0	0	0	9.005e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.24661	T	0.164	0.32568	T	0.008	0.14655	B	0.011	0.15521	B	0.005769	0.32522	N	0.335796	0.683383	0.34277	D	1.1	0.28011	L	0.56	0.57100	T	0.0	0.31170	N	0.233	0.32481	-0.9538	0.40310	T	0.085	0.33099	T	10	0.14050311	0.26705	T	0.011777	0.29743	T	0.082	0.23913	0.303	0.27164	0.357212565759	0.35331	0.33004951540693694	0.32917	0.279963403592	0.30479	0.476844847202	0.35623	T	0.074221	0.34886	T	-0.0441981	0.45324	T	-0.301264	0.44592	T	0.470210767918184	0.31538	T	0.925507	0.72788	D	0.12800577	0.29938	0.14728814	0.34863	0.12800577	0.29938	0.14728814	0.34862	-2.865	0.08798	T	.	.	0.129	0.27463	B	.;.;.	.;.;.	3.606361	0.50966	23.0	0.98750635554457955	0.45648	0.99118	0.91490	D	AEFBI	0.869466	0.79001	D	-0.149295633491919	0.35264	2.023336	0.102050482655791	0.44654	2.742917	0.999997661545733	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.76	5.76	0.90726	6.137000	0.71462	8.037000	0.76298	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	16.061	0.80641	693	0.58582	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1689.98	38	chr3	105552476	.	A	G	1689.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.097;DP=911;ExcessHet=0.0000;FS=1.856;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.04;ReadPosRankSum=0.224;SOR=0.853	GT:AD:DP:GQ:PL	0/1:111,76:187:99:1704,0,2776	20	0	1	0
chr3	112638380	112638380	T	C	exonic	CCDC80	.	nonsynonymous SNV	CCDC80:NM_199511:exon2:c.A1526G:p.K509R	.	.	.	.	.	.	.	.	.	.	.	2435223	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.21	T	1.0	D	0.997	D	0.000	D	1.000	D	1.04	L	0.48	T	-0.730	T	0.239	T	0.587	4.728	26.3	5.26	2.213	7.057	15.335	0.153	0.0329026843479	7.7e-05	.	8.241e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs371056820	5.472e-06	5.472e-06	5.445e-06	5.5e-06	1.159e-05	2.35e-06	1.7e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.295e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.38633	T	0.094	0.39645	T	0.999	0.77913	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	0.999951	0.58761	D	2.215	0.62545	M	0.48	0.55945	T	-1.06	0.27669	N	0.61	0.62696	-0.7303	0.58948	T	0.239	0.60679	T	10	0.59572953	0.66630	D	0.032903	0.54605	D	0.153	0.40148	.	.	0.838358248717	0.83681	0.3705774357248672	0.36971	0.607901423998	0.55585	0.443713247776	0.31084	T	0.026586	0.19643	T	0.0243844	0.54970	T	-0.20275	0.54385	T	0.844091295854072	0.49665	D	0.879412	0.59551	D	0.26210517	0.49271	0.16007654	0.37302	0.26210517	0.49271	0.16007654	0.37301	-2.954	0.09694	T	.	.	0.093	0.15070	B	.;.	.;.	3.849379	0.55755	23.6	0.99890973626045543	0.96513	0.99378	0.95249	D	AEFBI	0.867039	0.78667	D	0.584116952733648	0.72183	5.765775	0.60579194149626	0.75360	6.296732	0.999999999966134	0.74766	0.744818	0.98587	0	0.59043	0.45803	0	0.602189	0.34648	0	0.76194	0.99817	0	.	.	5.26	5.26	0.73479	7.031000	0.76223	4.910000	0.45943	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.335	0.73958	758	0.50837	.;.	.	.	.	.	.	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	0.02381	1462.98	35	chr3	112638380	.	T	C	1462.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.401e+00;DP=817;ExcessHet=0.0000;FS=1.500;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=-4.080e-01;SOR=0.681	GT:AD:DP:GQ:PL	0/1:59,54:113:99:1477,0,1671	20	0	1	0
chr3	112991298	112991298	T	C	exonic	GTPBP8	.	nonsynonymous SNV	GTPBP8:NM_014170:exon1:c.T299C:p.V100A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.694	P	0.204	B	0.000	D	0.625	D	2.045	M	2.63	T	-0.757	T	0.120	T	0.315	1.766	11.87	2.0	0.463	1.726	10.660	0.112	0.0201593305982	7.8e-05	.	0.0001	0	0	0	0	0.0002	0	0	9.06e-05	14	154602	rs146180102	9.922e-05	9.919e-05	8.579e-05	0.0001	2.878e-05	8.581e-05	8.05e-05	2.082e-05	1.782e-05	0	0	0.0035	0	0	0	2.878e-05	0.0004	0	0.0001	0.0001	0.0002	0.0001	5.88e-05	8.666e-05	7.258e-05	1.972e-05	1.124e-05	0	0	0	0.0046	0	0	0	5.88e-05	0	0	0.094	0.31383	T	0.283	0.24987	T	0.067	0.41705	B	0.05	0.37039	B	0.000238	0.47286	D	0.188364	0.999904	0.19694	N	2.295	0.65404	M	2.63	0.48460	T	-1.23	0.31170	N	0.349	0.51851	-0.7572	0.57556	T	0.120	0.41907	T	10	0.017285138	0.00368	T	0.020159	0.42696	T	0.112	0.31546	.	.	0.208000267992	0.20380	0.48044594355313563	0.47964	0.176570686574	0.19871	0.479800283909	0.36029	T	0.011392	0.17048	T	-0.267749	0.12008	T	-0.442084	0.28576	T	0.0660219063307718	0.08081	T	0.728327	0.38135	T	0.062413707	0.13033	0.069794305	0.14751	0.062413707	0.13032	0.069794305	0.14750	-5.556	0.42388	T	.	.	0.257	0.59274	B	.;.;.	.;.;.	2.053799	0.26112	17.00	0.86335653632732845	0.16468	0.90180	0.51155	D	ALL	0.117125	0.22958	N	-0.348266825298972	0.27336	1.498963	-0.389938071970538	0.25295	1.390245	0.999999999999996	0.74766	0.468429	0.09910	2	0.093493	0.02558	3	0.504199	0.09095	0	0.372554	0.06265	0	.	.	5.93	2.0	0.25495	1.468000	0.34941	2.484000	0.32953	0.665000	0.62972	0.961000	0.33663	1.000000	0.68203	0.003000	0.05239	0.3636:0.0:0.0:0.6364	10.660	0.44890	469	0.78175	.;.;.	.	.	.	.	.	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	0.02381	4782.98	34	chr3	112991298	.	T	C	4782.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.68;DP=1172;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.72;ReadPosRankSum=1.03;SOR=0.684	GT:AD:DP:GQ:PL	0/1:211,197:408:99:4797,0,5053	20	0	1	0
chr3	113657270	113657272	TGC	-	exonic	USF3	.	nonframeshift deletion	USF3:NM_001009899:exon7:c.4410_4412del:p.Q1478del,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	2/5:0,0,28,0,0,27:55:99:2196,2220,2336,1044,1181,1210,2220,2336,1181,2336,2220,2336,1181,2336,2336,1164,1178,0,1178,1178,1085	0	4	0	0
chr3	113657267	113657272	TGCTGC	-	exonic	USF3	.	nonframeshift deletion	USF3:NM_001009899:exon7:c.4410_4415del:p.Q1477_Q1478del,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	2/5:0,0,28,0,0,27:55:99:2196,2220,2336,1044,1181,1210,2220,2336,1181,2336,2220,2336,1181,2336,2336,1164,1178,0,1178,1178,1085	0	4	0	0
chr3	113657272	113657272	-	TGC	exonic	USF3	.	nonframeshift insertion	USF3:NM_001009899:exon7:c.4409_4410insGCA:p.Q1478_A1479insQ,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	2/5:0,0,28,0,0,27:55:99:2196,2220,2336,1044,1181,1210,2220,2336,1181,2336,2220,2336,1181,2336,2336,1164,1178,0,1178,1178,1085	0	4	0	0
chr3	113657272	113657272	-	TGCTGC	exonic	USF3	.	nonframeshift insertion	USF3:NM_001009899:exon7:c.4409_4410insGCAGCA:p.Q1478_A1479insQQ,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	2/5:0,0,28,0,0,27:55:99:2196,2220,2336,1044,1181,1210,2220,2336,1181,2336,2220,2336,1181,2336,2336,1164,1178,0,1178,1178,1085	0	4	0	0
chr3	113659707	113659707	G	T	exonic	USF3	.	nonsynonymous SNV	USF3:NM_001009899:exon7:c.C1975A:p.Q659K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.068	B	0.025	B	0.000	D	1.000	D	0.975	L	2.38	T	-1.065	T	0.032	T	0.43	2.605	14.67	5.27	2.449	4.107	12.267	0.024	0.0053989794535	.	.	8.28e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs114317459	3.42e-06	4.104e-06	2.722e-06	4.125e-06	2.236e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	0	2.236e-05	0	0	0	0	3.597e-06	0	0	6.568e-06	6.566e-06	1.284e-05	0	6.546e-05	0	0	.	.	0	0	6.546e-05	0	0	0	0	0	0	0	0.016	0.51853	D	0.313	0.19539	T	.	.	.	.	.	.	0.000395	0.44960	D	0.162990	0.998035	0.81001	D	.	.	.	2.38	0.15843	T	-1.2	0.30555	N	0.451	0.49055	-1.0647	0.10619	T	0.032	0.13898	T	10	0.14693269	0.27849	T	0.005399	0.13862	T	0.024	0.04979	0.23	0.15705	0.043077524339	0.03247	0.40523914324004845	0.40439	0.536506915969	0.50979	0.397332727909	0.24698	T	.	.	.	-0.171886	0.24948	T	-0.401813	0.33173	T	0.635149121284485	0.37832	D	0.459554	0.13284	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.40180	B	.;.	.;.	4.332318	0.66395	25.0	0.99305528457359238	0.58795	0.94010	0.59842	D	AEFBI	0.313121	0.41837	N	-0.0533215290235749	0.39453	2.326901	0.140597839537599	0.46646	2.907241	0.999995610878864	0.74766	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.27	5.27	0.73797	6.162000	0.71691	11.905000	0.99459	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0779:0.0:0.9221:0.0	12.267	0.54001	434	0.80536	.;.	.	.	.	.	.	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	0.02381	3150.98	41	chr3	113659707	.	G	T	3150.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.201;DP=1632;ExcessHet=0.0000;FS=4.047;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.68;ReadPosRankSum=0.189;SOR=0.986	GT:AD:DP:GQ:PL	0/1:91,110:201:99:3165,0,2425	20	0	1	0
chr3	115676196	115676196	G	C	exonic	GAP43	.	nonsynonymous SNV	GAP43:NM_002045:exon2:c.G214C:p.A72P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.771	P	0.383	B	0.026	N	1.000	N	1.61	L	0.81	T	-0.975	T	0.114	T	0.339	1.198	9.869	3.74	1.291	2.358	6.183	0.066	0.0138723661589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.164e-06	0.0001	6.814e-06	5.506e-06	0.0002	2.9e-06	2.1e-06	2.62e-06	1.69e-06	0	0	0	0	0	0.0002	6.304e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.48186	D	0.116	0.48594	T	0.371	0.34093	B	0.27	0.39872	B	0.026388	0.25927	N	0.380184	1	0.08975	N	1.935	0.51832	L	0.81	0.48460	T	-1.44	0.36385	N	0.115	0.13055	-0.9747	0.36191	T	0.114	0.40559	T	10	0.13199726	0.25123	T	0.013872	0.33594	T	0.066	0.19193	0.401	0.43081	0.482646159919	0.47895	0.13216878396780574	0.13141	0.27922568898	0.30403	0.315461575985	0.12734	T	0.20433	0.56307	T	-0.115191	0.33911	T	-0.403241	0.33007	T	0.650220215320587	0.38471	D	0.59824	0.32735	T	0.29186904	0.52166	0.3267469	0.58579	0.29186904	0.52166	0.3267469	0.58578	-5.243	0.39376	T	.	.	0.142	0.35247	B	.;.	.;.	2.241624	0.28623	17.86	0.9963283397870325	0.76142	0.37808	0.25845	N	AEFBI	0.528119	0.54978	D	-0.309158098030579	0.28799	1.591533	-0.403764697157965	0.24886	1.36534	1.52725511360971E-4	0.05650	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.542086	0.14980	0	.	.	4.62	3.74	0.42108	2.136000	0.41744	2.479000	0.32931	0.676000	0.76740	0.127000	0.23295	0.120000	0.22892	0.064000	0.16252	0.1644:0.1547:0.6809:0.0	6.183	0.19696	935	0.14827	Neuromodulin (GAP-43), C-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	0.125	108.87	93	chr3	115676196	.	G	C	108.87	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-3.165e+00;DP=1834;ExcessHet=1.1607;FS=178.066;InbreedingCoeff=-0.1514;MLEAC=4;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=0.25;ReadPosRankSum=0.572;SOR=11.555	GT:AD:DP:GQ:PL	0/1:71,28:105:50:50,0,1580	15	0	5	1
chr3	121697608	121697608	C	T	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon12:c.G2675A:p.S892N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.003	B	0.006	B	0.408	N	1.000	N	1.39	L	2.45	T	-1.002	T	0.036	T	0.11	-1.422	0.021	-1.89	-0.182	-1.460	2.032	0.010	0.0055666730905	.	.	0.0002	0	0	0	0	0.0004	0	0	0.0001746	27	154602	rs778004960	6.574e-05	6.636e-05	7.359e-05	5.78e-05	8.457e-05	5.5e-05	5.112e-05	7.05e-05	6.543e-05	2.998e-05	0	0	0	0	0	8.457e-05	1.657e-05	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.261	0.16738	T	0.371	0.16425	T	0.001	0.07471	B	0.003	0.08700	B	0.408103	0.13033	N	0.739273	1	0.08975	N	1.2	0.30300	L	2.45	0.24472	T	-0.05	0.13418	N	0.083	0.05929	-1.0015	0.29488	T	0.036	0.15334	T	10	0.038387537	0.02253	T	0.005567	0.14379	T	0.010	0.01040	.	.	0.170165803431	0.16609	0.037615456697216235	0.03707	0.0975493673825	0.11016	0.338142246008	0.16160	T	0.011343	0.10136	T	-0.518972	0.00446	T	-0.687051	0.06562	T	0.355778306722641	0.27244	T	0.69713	0.36376	T	0.025965443	0.01596	0.04456666	0.05802	0.025965443	0.01595	0.04456666	0.05802	-3.888	0.22948	T	.	.	0.068	0.03372	B	.;.;.;.	.;.;.;.	-0.165862	0.03270	0.558	0.56106229042003131	0.05481	0.03532	0.08721	N	AEFBI	0.039459	0.05734	N	-1.19125646828008	0.05132	0.2332122	-1.23530746019028	0.05352	0.2547985	0.0878450262559025	0.16045	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.35	-1.89	0.07271	-2.009000	0.01544	-0.178000	0.11160	-0.176000	0.10722	0.000000	0.06391	0.020000	0.20764	0.881000	0.42162	0.1378:0.2768:0.1232:0.4621	2.032	0.03317	398	0.82839	.;.;.;.	.	.	.	.	.	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	0.4118	1321.45	117	chr3	121697608	.	C	T	1321.45	.	AC=14;AF=0.412;AN=34;BaseQRankSum=-2.821e+00;DP=2409;ExcessHet=14.4320;FS=218.851;InbreedingCoeff=-0.6164;MLEAC=16;MLEAF=0.471;MQ=60.00;MQRankSum=0.00;QD=0.83;ReadPosRankSum=0.342;SOR=12.895	GT:AD:DP:GQ:PL	0/1:93,29:133:19:19,0,1690	3	0	14	4
chr3	123618692	123618692	C	T	exonic	MYLK	.	nonsynonymous SNV	MYLK:NM_053031:exon2:c.G164A:p.R55H	Aortic aneurysm, familial thoracic 7, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	224256	Aortic_aneurysm,_familial_thoracic_7|Megacystis-microcolon-intestinal_hypoperistalsis_syndrome_1|not_specified|Familial_thoracic_aortic_aneurysm_and_aortic_dissection	MONDO:MONDO:0013418,MedGen:C3151077,OMIM:613780|MONDO:MONDO:0100354,MedGen:C5542316,OMIM:249210|MedGen:CN169374|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.53	T	0.161	B	0.052	B	.	.	0.929	N	1.915	M	-0.32	T	-0.908	T	0.205	T	0.522	2.689	14.95	4.43	2.788	0.518	6.380	0.212	0.0315122723525	7.7e-05	.	1.65e-05	9.662e-05	0	0	0	1.5e-05	0	0	1.29e-05	2	154602	rs140636141	3.899e-05	3.899e-05	4.22e-05	3.575e-05	4.586e-05	3.047e-05	2.783e-05	3.545e-05	3.204e-05	2.987e-05	4.472e-05	0	0	0	0	4.586e-05	3.311e-05	1.159e-05	1.972e-05	1.97e-05	0	4.036e-05	0.0002	5.24e-06	2.45e-06	.	.	2.414e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	0.077	0.39334	T	0.204	0.30729	T	0.027	0.24142	B	0.014	0.25551	B	.	.	.	.	0.929256	0.36920	D	1.74	0.45129	L	-0.32	0.68181	T	-2.04	0.56945	N	0.401	0.44187	-0.9077	0.47133	T	0.205	0.56348	T	9	0.17343271	0.32170	T	0.031512	0.53573	D	0.212	0.50341	.	.	0.714809018452	0.71230	0.3741655613804889	0.37330	2.0033223038	0.93854	0.589194417	0.51380	T	0.311265	0.68316	T	-0.134829	0.30717	T	-0.249921	0.49825	T	0.130327085275269	0.15412	T	0.937706	0.80233	D	0.06125237	0.12662	0.066317216	0.13568	0.06125237	0.12662	0.066317216	0.13568	-4.652	0.47631	T	0.14834684009880258	0.17263	0.232	0.48968	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.780138	0.54344	23.5	0.99482758781400327	0.66959	0.47370	0.27967	N	AEFDBCIJ	0.241523	0.36313	N	-0.190924192477255	0.33511	1.902029	-0.0666920468365798	0.36776	2.144623	0.999995507622548	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.37	4.43	0.52967	0.917000	0.28286	4.169000	0.42261	0.599000	0.40250	0.695000	0.28578	1.000000	0.68203	0.975000	0.56047	0.2401:0.6683:0.0:0.0916	6.380	0.20729	639	0.64210	.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1721.98	35	chr3	123618692	.	C	T	1721.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.940e-01;DP=927;ExcessHet=0.0000;FS=0.577;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=-6.240e-01;SOR=0.746	GT:AD:DP:GQ:PL	0/1:84,76:160:99:1736,0,1931	20	0	1	0
chr3	126112875	126112875	C	T	exonic	ALDH1L1	.	nonsynonymous SNV	ALDH1L1:NM_001270365:exon17:c.G1785A:p.M595I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.911	P	0.682	P	0.000	D	1.000	D	-1.135	N	-0.88	T	-0.582	T	0.192	T	0.689	3.142	16.51	4.51	2.331	7.393	14.733	0.500	0.0312487883954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.28148	T	0.179	0.29540	T	0.627	0.40110	P	0.367	0.43430	B	0.000000	0.84330	D	0.043059	0.999999	0.81001	D	-0.335	0.03518	N	-0.88	0.74689	T	-2.82	0.59545	D	0.835	0.84609	-0.5817	0.65550	T	0.192	0.54433	T	10	0.698828	0.72314	D	0.031249	0.53376	D	0.500	0.78350	0.52	0.62217	0.611346784744	0.60822	0.6386957034620353	0.63803	0.245996394235	0.27129	0.676244139671	0.63731	T	0.436088	0.78259	T	0.122971	0.66669	D	-0.0611372	0.66253	T	0.94145256280899	0.61472	D	0.889111	0.62070	D	0.56666	0.70876	0.52424294	0.72513	0.56666	0.70878	0.52424294	0.72513	-8.98	0.67568	D	.	.	0.577	0.70820	P	.;.;.;.	.;.;.;.	4.635996	0.73751	26.0	0.98582346708884894	0.43258	0.97037	0.72325	D	AEFBI	0.971595	0.99362	D	0.144033391075846	0.48530	3.064137	0.285847550220986	0.54712	3.635423	0.999999973642832	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.51	4.51	0.54589	7.617000	0.82227	7.415000	0.58672	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	14.733	0.69016	912	0.21483	.;Aldehyde dehydrogenase domain;.;Aldehyde dehydrogenase 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	0.02381	1414.98	33	chr3	126112875	.	C	T	1414.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.620e-01;DP=855;ExcessHet=0.0000;FS=0.669;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=-7.180e-01;SOR=0.794	GT:AD:DP:GQ:PL	0/1:62,61:123:99:1429,0,1530	20	0	1	0
chr3	126419767	126419767	G	C	exonic	CFAP100	.	nonsynonymous SNV	CFAP100:NM_182628:exon9:c.G862C:p.V288L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.0	B	0.001	B	0.000	N	1.000	N	0	N	1.62	T	-1.052	T	0.035	T	0.055	0.286	5.549	-5.15	-1.125	-1.068	5.451	0.014	0.00366022015649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.14303	T	0.307	0.19972	T	0.0	0.02946	B	0.0	0.04355	B	0.000238	0.00528	N	31.350500	1	0.08975	N	.	.	.	1.61	0.28391	T	-0.63	0.18459	N	0.088	0.06587	-1.0519	0.13872	T	0.035	0.14857	T	10	0.029013813	0.01029	T	0.00366	0.08433	T	0.014	0.01968	0.121	0.02793	0.0401082797425	0.02173	0.09989092514442992	0.09920	0.0929131799592	0.10492	0.245092481375	0.03269	T	0.003651	0.03060	T	-0.387468	0.02793	T	-0.794348	0.02047	T	0.191430002450943	0.19928	T	0.294271	0.05429	T	0.045217313	0.07362	0.040476706	0.04382	0.045217313	0.07362	0.040476706	0.04382	-3.221	0.12826	T	.	.	0.105	0.19919	B	.;.	.;.	-0.722638	0.01269	0.066	0.47286307294522911	0.03854	0.05282	0.11125	N	AEFDBCI	0.065663	0.12820	N	-1.77543066754252	0.00608	0.02620768	-1.81671492611919	0.00707	0.03149414	0.999930748601189	0.46732	0.615755	0.39536	0	0.573888	0.26702	0	0.618376	0.41669	0	0.562822	0.20929	0	.	.	4.44	-5.15	0.02648	-0.872000	0.04327	-1.048000	0.06492	-0.175000	0.10903	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.473:0.0:0.3038:0.2232	5.451	0.15863	864	0.32732	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	215.98	38	chr3	126419767	.	G	C	215.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.109e+00;DP=866;ExcessHet=0.0000;FS=127.969;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.39;ReadPosRankSum=3.08;SOR=7.427	GT:AD:DP:GQ:PL	0/1:115,40:155:99:230,0,2511	20	0	1	0
chr3	126420145	126420145	T	C	exonic	CFAP100	.	nonsynonymous SNV	CFAP100:NM_182628:exon11:c.T998C:p.M333T,	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.001	B	0.002	B	0.001	N	1.000	N	1.1	L	1.56	T	-1.063	T	0.027	T	0.109	-0.456	1.888	-4.46	-0.870	-0.646	6.260	0.009	.	0.0073	0.00638978	0.0028	0.0216	0.0021	0	0	0.0013	0.0057	6.089e-05	0.0026002	402	154602	rs113527043	0.0011	0.0011	0.0012	0.0010	0.0225	0.0010	0.0010	0.0212	0.0206	0.0225	0.0023	0.0140	0.0002	0	0.0025	0.0001	0.0034	9.276e-05	0.0065	0.0065	0.0070	0.0060	0.0200	0.0062	0.0061	0.0189	0.0184	0.0200	0	0.0059	0.0127	0	0	0	0.0002	0.0047	0.0002	0.726	0.03857	T	0.475	0.15059	T	0.0	0.07471	B	0.001	0.06944	B	0.000736	0.00674	N	3.044770	1	0.08975	N	.	.	.	1.56	0.29602	T	0.05	0.06369	N	0.028	0.00618	-1.0632	0.10974	T	0.027	0.11574	T	10	0.0034114122	0.00060	T	.	.	.	0.009	0.00846	.	.	0.0297737177859	0.01360	0.25060881054810563	0.24974	0.110085860378	0.12427	0.31633991003	0.12867	T	0.002054	0.01461	T	-0.687516	0.00043	T	-0.743426	0.03748	T	0.000715476860916004	0.00006	T	0.186781	0.01946	T	0.028601056	0.02222	0.0709503	0.15136	0.028601056	0.02221	0.0709503	0.15136	-1.858	0.02688	T	.	.	0.089	0.15206	B	.;.	.;.	-0.712080	0.01293	0.069	0.2643571102838152	0.01266	0.01995	0.06019	N	AEFDBCIJ	0.022316	0.01100	N	-1.28097495090901	0.03904	0.1752791	-1.39987337017152	0.03253	0.1514113	0.999774273452103	0.42865	0.487112	0.14033	0	0.573888	0.26702	0	0.607795	0.38427	0	0.562822	0.20929	0	.	.	3.37	-4.46	0.03288	-0.834000	0.04498	-2.102000	0.04210	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5396:0.179:0.2814	6.260	0.20106	864	0.32732	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	844.98	49	chr3	126420145	.	T	C	844.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.556;DP=935;ExcessHet=0.0000;FS=3.414;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=-1.270e-01;SOR=0.496	GT:AD:DP:GQ:PL	0/1:29,33:62:99:859,0,705	20	0	1	0
chr3	128055734	128055734	T	C	exonic	SEC61A1	.	nonsynonymous SNV	SEC61A1:NM_013336:exon4:c.T203C:p.I68T,	Hyperuricemic nephropathy, familial juvenile, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.813	P	0.991	D	0.000	D	1.000	D	3.135	M	.	.	0.283	D	0.586	D	0.853	4.605	25.1	5.96	2.285	8.040	16.434	0.573	0.091247723289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.258e-05	0.0002	2.676e-05	1.839e-05	9.196e-05	1.634e-05	1.399e-05	2.437e-05	1.642e-05	9.196e-05	0	0	0	0	0	2.708e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.813	0.45457	P	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	.	.	.	-4.32	0.78135	D	0.916	0.91852	0.283	0.87277	D	0.586	0.85162	D	9	0.86147714	0.85369	D	0.091248	0.75671	D	0.573	0.82686	0.675	0.81299	0.76620622527	0.76407	0.9592012447472799	0.95906	2.62425591286	0.98291	0.937776684761	0.99368	D	0.171646	0.89009	T	0.407234	0.90327	D	0.347187	0.90207	D	0.99201911687851	0.82399	D	0.982235	0.93989	D	0.61355335	0.73418	0.63325304	0.78597	0.61355335	0.73420	0.63325304	0.78598	-14.305	0.94006	D	0.9309146123572548	0.97183	0.995	0.95337	P	.;.;.	.;.;.	4.978580	0.82446	27.8	0.99818939875784696	0.90238	0.96469	0.69293	D	AEFBCI	0.955470	0.97334	D	0.872628912596572	0.90357	10.36711	0.841034471038791	0.92481	11.45152	0.999999999999953	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.638787	0.57140	0	.	.	5.96	5.96	0.96695	8.017000	0.88732	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	16.434	0.83709	652	0.62785	Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	1753.27	33	chr3	128055734	.	T	C	1753.27	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-2.562e+00;DP=1413;ExcessHet=14.4320;FS=89.774;InbreedingCoeff=-0.4973;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=0.471;SOR=10.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:51,18:69:99:.:.:168,0,929	7	0	14	0
chr3	128462648	128462648	C	T	exonic	DNAJB8	.	nonsynonymous SNV	DNAJB8:NM_153330:exon3:c.G598A:p.V200M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.816	P	0.103	B	0.002	N	0.917	D	1.81	L	0.79	T	-1.038	T	0.080	T	0.115	0.433	6.351	1.92	0.078	1.281	5.888	0.085	0.0595181041511	0.0002	0.000199681	0.0002	0	8.64e-05	0.0009	0	0.0001	0	0.0002	0.0001423	22	154602	rs199584005	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0001	0.0011	0.0010	0	2.236e-05	0	0.0014	3.748e-05	0	0.0002	0.0001	8.115e-05	0.0002	0.0002	0.0001	0.0002	0.0014	0.0001	8.721e-05	0.0006	0.0005	0.0001	0	0	0	0.0014	9.439e-05	0	0.0001	0.0005	0	0.315	0.13789	T	0.253	0.23501	T	0.816	0.45573	P	0.103	0.30945	B	0.001893	0.37740	N	0.223015	0.917	0.36573	D	2.2	0.62015	M	0.79	0.49068	T	-1.44	0.35399	N	0.075	0.04913	-1.0380	0.17924	T	0.080	0.31675	T	10	0.017086148	0.00363	T	0.059518	0.67689	D	0.085	0.24743	.	.	0.306377322295	0.30243	0.49624636028116376	0.49545	0.127916415262	0.14423	0.528169155121	0.42776	T	0.078103	0.35813	T	-0.549406	0.00294	T	-0.57519	0.14976	T	0.0375871167618072	0.03258	T	0.788521	0.42806	T	0.051437657	0.09446	0.063033074	0.12424	0.051437657	0.09446	0.063033074	0.12423	-5.581	0.42619	T	.	.	0.090	0.14015	B	.;.	.;.	2.474018	0.31895	18.88	0.85213977534746854	0.15755	0.64023	0.32274	D	AEFBI	0.149292	0.27336	N	-0.220065701311177	0.32311	1.820852	-0.252404577424046	0.29688	1.665349	0.0118222559520045	0.12241	0.569682	0.32691	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	4.75	1.92	0.24912	1.326000	0.33341	-0.389000	0.09488	0.599000	0.40250	0.899000	0.31403	0.000000	0.08366	0.740000	0.35438	0.1235:0.5861:0.0:0.2904	5.888	0.18137	646	0.63441	.;.	.	.	.	.	.	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	0.02381	2684.98	41	chr3	128462648	.	C	T	2684.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.466;DP=1096;ExcessHet=0.0000;FS=3.001;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.09;ReadPosRankSum=-9.450e-01;SOR=0.910	GT:AD:DP:GQ:PL	0/1:105,117:222:99:2699,0,2256	20	0	1	0
chr3	129976735	129976735	G	A	exonic	TRH	.	nonsynonymous SNV	TRH:NM_007117:exon3:c.G248A:p.R83H,	Thyrotropin-releasing hormone deficiency, Autosomal recessive	.	10	1510	2	0	0	2	0.000661813	.	.	439244	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	2.725	M	-0.14	T	-0.265	T	0.236	T	0.886	4.311	22.6	4.98	2.471	4.457	14.101	0.662	.	0.0110	0.0101837	0.0032	0.0299	0.0032	0	0	0.0005	0.0044	0.0005	0.0031759	491	154602	rs61740106	0.0012	0.0012	0.0013	0.0011	0.0319	0.0012	0.0012	0.0303	0.0297	0.0319	0.0036	0.0016	0	0	0.0040	0.0002	0.0033	0.0005	0.0092	0.0092	0.0098	0.0086	0.0298	0.0088	0.0087	0.0284	0.0279	0.0298	0	0.0072	0.0029	0.0002	0	0	0.0003	0.0109	0.0002	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	3.02	0.86243	M	-0.14	0.65006	T	-4.55	0.78553	D	0.668	0.67908	-0.2651	0.75948	T	0.236	0.60319	T	10	0.01296562	0.00276	T	.	.	.	0.662	0.87381	.	.	0.90926522634	0.90835	0.22992747099110933	0.22907	0.52095588289	0.49879	0.628373265266	0.56914	T	0.638808	0.88897	D	-0.0281134	0.47691	T	0.209838	0.83656	D	0.0276696057880088	0.01641	T	0.871513	0.58386	D	0.68795	0.77400	0.5851145	0.75942	0.68795	0.77402	0.5851145	0.75942	-10.522	0.76973	D	.	.	0.312	0.53951	B	.;.	.;.	5.059652	0.84328	28.3	0.99937857556804743	0.99698	0.88173	0.47984	D	AEFDBI	0.452767	0.50618	N	0.743382019163356	0.82472	7.771286	0.674293892333898	0.80431	7.297386	0.999999897570892	0.74766	0.582742	0.33608	0	0.563428	0.19063	0	0.61531	0.40942	0	0.530356	0.10902	0	.	.	4.98	4.98	0.65679	5.041000	0.63995	7.246000	0.57915	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.901000	0.43729	0.0:0.0:1.0:0.0	14.101	0.64581	849	0.35778	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1032.98	63	chr3	129976735	.	G	A	1032.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.865;DP=1391;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.13;ReadPosRankSum=0.206;SOR=0.660	GT:AD:DP:GQ:PL	0/1:58,44:102:99:1047,0,1387	20	0	1	0
chr3	130649254	130649254	G	A	exonic	COL6A6	.	nonsynonymous SNV	COL6A6:NM_001102608:exon32:c.G5425A:p.A1809T,	.	.	.	.	.	.	.	.	.	.	.	733794	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.001	B	0.002	B	.	.	1.000	N	-1.305	N	2.41	T	-0.939	T	0.005	T	0.057	-1.262	0.047	-4.93	-0.831	0.047	11.797	0.120	.	0.0002	0.00259585	0.0018	0	0.0004	0.0211	0.0014	0.0003	0.002	0.0009	0.0011384	176	154602	rs143290812	0.0009	0.0009	0.0009	0.0008	0.0259	0.0008	0.0008	0.0246	0.0241	0	0.0001	0	0.0259	0.0015	0.0002	6.611e-05	0.0005	0.0004	0.0007	0.0007	0.0006	0.0009	0.0156	0.0006	0.0006	0.0129	0.0119	0	0	6.546e-05	0	0.0156	0.0014	0	0.0002	0.0005	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.955	0.01252	N	2.41	0.15492	T	3.07	0.00131	N	0.043	0.01577	-0.9392	0.42743	T	0.005	0.01725	T	9	0.0073356032	0.00167	T	.	.	.	0.120	0.33359	.	.	0.18995819373	0.18626	0.3092756620404162	0.30840	0.0559409974053	0.06180	0.253213167191	0.04113	T	0.027178	0.19957	T	-0.742106	0.00020	T	-0.827729	0.01303	T	0.0105776826829217	0.00147	T	0.342966	0.07460	T	0.024146242	0.01219	0.083224975	0.19055	0.024146242	0.01218	0.083224975	0.19055	-0.496	0.00581	T	.	.	0.069	0.02993	B	.	.	-0.109094	0.03587	0.699	0.20859680298263159	0.00769	0.02617	0.07198	N	AEFI	0.068812	0.13590	N	-1.49888863544461	0.01858	0.08149647	-1.43898419102173	0.02871	0.1328853	0.00493012904604098	0.10764	0.500041	0.20204	0	0.573888	0.26702	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	5.45	-4.93	0.02839	-0.048000	0.11898	-2.061000	0.04272	-0.772000	0.03442	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.7862:0.1112:0.1026:0.0	11.797	0.51378	451	0.79296	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	0	0	0	1	0	0	0	0.02381	1034.98	37	chr3	130649254	.	G	A	1034.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=1040;ExcessHet=0.0000;FS=8.349;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.01;ReadPosRankSum=-5.330e-01;SOR=0.435	GT:AD:DP:GQ:PL	0/1:52,42:94:99:1049,0,1294	20	0	1	0
chr3	132528316	132528316	T	G	exonic	DNAJC13	.	nonsynonymous SNV	DNAJC13:NM_015268:exon54:c.T6509G:p.L2170W	.	.	433	1087	2	0	0	2	0.000919118	.	.	2824943	not_provided|DNAJC13-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.992	D	0.001	D	1.000	D	2.475	M	2.1	T	-0.833	T	0.155	T	0.798	4.368	23.0	5.45	2.073	7.607	15.518	0.388	0.0642920073911	0.0028	.	0.0023	0.0012	0.0004	0	0.0009	0.0038	0.0044	6.058e-05	0.002348	363	154602	rs140537885	0.0043	0.0043	0.0044	0.0041	0.0051	0.0042	0.0042	0.0050	0.0050	0.0010	0.0007	0.0037	0	0.0012	0.0029	0.0051	0.0053	5.797e-05	0.0027	0.0027	0.0030	0.0025	0.0049	0.0025	0.0024	0.0045	0.0043	0.0008	0	0.0008	0.0032	0	0.0019	0.0034	0.0049	0.0014	0.0002	0.003	0.68238	D	0.002	0.79402	D	0.999	0.77913	D	0.992	0.80445	D	0.000859	0.41440	D	0.164616	0.999998	0.58761	D	2.75	0.80375	M	2.1	0.19990	T	-4.11	0.74980	D	0.771	0.76853	-0.8327	0.53127	T	0.155	0.48670	T	10	0.05158782	0.05064	T	0.064292	0.69232	D	0.388	0.70440	.	.	0.31506500091	0.31122	0.5111324767180695	0.51035	1.04644929279	0.75967	0.767448782921	0.77043	T	0.27713	0.64974	T	-0.216797	0.18432	T	-0.0822719	0.64736	T	0.0248581010235035	0.01254	T	0.950905	0.81262	D	0.37538135	0.58979	0.58415097	0.75888	0.37538135	0.58980	0.58415097	0.75889	-7.268	0.55967	T	.	.	0.575	0.67840	P	.	.	4.956911	0.81928	27.7	0.95880162325879781	0.28073	0.98330	0.81695	D	AEFBI	0.934912	0.92899	D	0.772175829522432	0.84339	8.260327	0.737239104847383	0.85200	8.510329	0.999999864566023	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.45	5.45	0.79688	7.648000	0.82647	7.862000	0.71495	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	15.518	0.75577	824	0.40336	.	.	.	.	.	.	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	0.02381	657.98	34	chr3	132528316	.	T	G	657.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.138e+00;DP=742;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-5.270e-01;SOR=0.610	GT:AD:DP:GQ:PL	0/1:28,29:57:99:672,0,752	20	0	1	0
chr3	133380888	133380888	T	G	exonic	TMEM108	.	nonsynonymous SNV	TMEM108:NM_001136469:exon4:c.T1177G:p.S393A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.663	P	0.269	B	0.860	N	1.000	N	1.935	M	0.64	T	-0.994	T	0.133	T	0.074	2.188	13.27	0.083	0.158	0.076	6.119	0.047	0.01095572054	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1335973324	4.104e-06	4.104e-06	5.445e-06	2.75e-06	0.0002	1.48e-06	9.7e-07	8.4e-07	5.7e-07	0	0	0	0	0	0.0002	3.597e-06	1.656e-05	0	1.315e-05	1.313e-05	2.57e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.017	0.51248	D	0.365	0.16717	T	0.341	0.40973	B	0.058	0.39840	B	0.859622	0.08904	N	0.907724	1	0.81001	D	2.255	0.64187	M	0.64	0.55266	T	-1.32	0.32991	N	0.278	0.31478	-0.9944	0.31459	T	0.133	0.44564	T	10	0.09692907	0.17421	T	0.010956	0.28083	T	0.047	0.12962	0.247	0.18293	0.193917141947	0.19028	0.09674129676818885	0.09606	0.217102352539	0.24225	0.337239980698	0.16025	T	0.04938	0.28290	T	-0.217659	0.18314	T	-0.550429	0.17286	T	0.194440945982933	0.20103	T	0.529847	0.18203	T	0.070333496	0.15484	0.07259949	0.15682	0.070333496	0.15484	0.07259949	0.15682	-4.024	0.24162	T	.	.	0.077	0.11701	B	.;.;.	.;.;.	1.512683	0.19433	14.26	0.98442237862072457	0.41519	0.25982	0.22860	N	AEFDBI	.	.	.	-0.523785449776109	0.21312	1.130141	-0.592472872836828	0.19687	1.057461	0.999076915703893	0.38370	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	3.66	0.083	0.13741	-0.062000	0.11631	0.220000	0.16063	0.665000	0.62972	0.000000	0.06391	0.084000	0.22431	0.564000	0.30507	0.0:0.5695:0.0:0.4305	6.119	0.19362	482	0.77288	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1914.98	39	chr3	133380888	.	T	G	1914.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.279e+00;DP=922;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-1.400e+00;SOR=0.658	GT:AD:DP:GQ:PL	0/1:86,80:166:99:1929,0,2221	20	0	1	0
chr3	138084237	138084237	T	C	exonic	DZIP1L	.	nonsynonymous SNV	DZIP1L:NM_173543:exon8:c.A1079G:p.Q360R	.	.	.	.	.	.	.	.	.	.	.	733826	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.097	B	0.023	B	0.260	N	1.000	N	0	N	1.0	T	-1.046	T	0.036	T	0.055	0.792	8.170	2.01	0.102	1.756	6.165	0.029	0.011472724657	0.0003	0.00179712	0.0008	0.0002	0.0066	0	0	3.009e-05	0.0011	0.0012	0.0008279	128	154602	rs148073431	0.0003	0.0003	0.0003	0.0003	0.0057	0.0002	0.0002	0.0052	0.0049	0.0002	0.0057	0	2.519e-05	0	0.0002	1.079e-05	0.0003	0.0011	0.0007	0.0007	0.0006	0.0008	0.0054	0.0006	0.0005	0.0044	0.0041	0.0002	0	0.0054	0	0.0010	0	0	8.819e-05	0	0.0004	0.002	0.72154	D	0.16	0.74150	T	0.097	0.25541	B	0.016	0.19966	B	0.260495	0.15325	N	0.639528	1	0.08975	N	0	0.06538	N	1.0	0.41392	T	-1.55	0.38151	N	0.17	0.18103	-1.0459	0.15563	T	0.036	0.15422	T	10	0.004087031	0.00080	T	0.011473	0.29127	T	0.029	0.06676	.	.	0.0666544352282	0.05500	0.014507853662267528	0.01407	0.0847022139416	0.09572	0.286505460739	0.08416	T	0.020301	0.16009	T	-0.596845	0.00152	T	-0.627769	0.10584	T	0.0219184689871532	0.00900	T	0.731327	0.34859	T	0.120817825	0.28422	0.11329842	0.27342	0.11420692	0.26965	0.1386463	0.33104	-2.554	0.06161	T	.	.	0.070	0.03336	B	.;.	.;.	2.893261	0.38328	20.7	0.9433706316981304	0.24675	0.71187	0.34906	D	AEFBI	0.059732	0.11303	N	-0.676598126989997	0.16690	0.8525361	-0.60049394399175	0.19480	1.04535	0.999754776635191	0.42595	0.651	0.46895	0	0.563428	0.19063	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.81	2.01	0.25568	1.956000	0.40007	2.524000	0.33135	0.665000	0.62972	0.982000	0.35529	0.283000	0.24120	0.927000	0.46353	0.0:0.081:0.3116:0.6074	6.165	0.19604	574	0.70151	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	823.98	40	chr3	138084237	.	T	C	823.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.489e+00;DP=766;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.87;ReadPosRankSum=-7.410e-01;SOR=0.708	GT:AD:DP:GQ:PL	0/1:27,37:64:99:838,0,693	20	0	1	0
chr3	149741679	149741679	C	T	exonic	COMMD2	.	nonsynonymous SNV	COMMD2:NM_016094:exon5:c.G442A:p.V148M,	.	.	438	1079	5	0	0	5	0.0023116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.363	B	0.117	B	0.001	D	1.000	D	1.395	L	2.83	T	-1.053	T	0.017	T	0.327	2.459	14.18	3.6	1.394	2.138	9.022	0.068	0.010334818708	0.0036	0.000998403	0.0032	0.0013	0.0026	0	0.0002	0.0048	0.0022	0.0018	0.0002305	6	26028	rs148182261	0.0045	0.0045	0.0046	0.0044	0.0053	0.0044	0.0044	0.0052	0.0052	0.0010	0.0031	0.0012	0	0.0004	0.0050	0.0053	0.0048	0.0019	0.0034	0.0034	0.0038	0.0029	0.0055	0.0031	0.0030	0.0050	0.0048	0.0012	0	0.0044	0.0006	0	0.0005	0	0.0055	0.0033	0.0015	0.107	0.29554	T	0.085	0.41074	T	0.363	0.33965	B	0.117	0.32014	B	0.000750	0.42006	D	0.236824	1.000	0.50806	D	1.925	0.51371	L	2.83	0.10771	T	-1.38	0.34198	N	0.235	0.26475	-1.0534	0.13466	T	0.017	0.06998	T	10	0.009713143	0.00218	T	0.010335	0.26741	T	0.068	0.19811	.	.	0.206339911435	0.20273	0.4787639907168906	0.47796	0.663642696589	0.59027	0.540998578072	0.44585	T	0.071297	0.34172	T	-0.509788	0.00503	T	-0.49709	0.22650	T	0.00915085435720111	0.00115	T	0.859914	0.55237	D	0.055687983	0.10857	0.09599147	0.22788	0.055687983	0.10856	0.09599147	0.22787	-8.17	0.62223	D	.	.	0.126	0.26794	B	.	.	3.391021	0.46947	22.4	0.99018905064779783	0.50527	0.91585	0.53837	D	AEFBI	0.141364	0.26351	N	0.0136838314858404	0.42478	2.560067	0.128448531586511	0.46011	2.854192	5.21368158721951E-4	0.07225	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.76	3.6	0.40374	1.565000	0.35993	2.656000	0.33848	0.599000	0.40250	0.885000	0.31090	0.993000	0.31925	1.000000	0.97212	0.0:0.7284:0.1328:0.1388	9.022	0.35368	743	0.52768	COMM domain|COMM domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1189.98	41	chr3	149741679	.	C	T	1189.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.210e-01;DP=924;ExcessHet=0.0000;FS=3.188;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.06;ReadPosRankSum=1.63;SOR=0.398	GT:AD:DP:GQ:PL	0/1:33,46:79:99:1204,0,823	20	0	1	0
chr3	151449185	151449185	C	T	exonic	IGSF10	.	nonsynonymous SNV	IGSF10:NM_001385061:exon5:c.G796A:p.G266S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.18	B	0.044	B	0.007	N	0.886	D	2.9	M	0.55	T	-0.715	T	0.192	T	0.106	1.769	11.87	4.5	1.273	2.449	11.023	0.106	0.0315729772146	.	.	.	.	.	.	.	.	.	.	.	.	.	rs979960604	4.789e-06	4.788e-06	2.722e-06	6.876e-06	6.295e-06	1.99e-06	1.28e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.295e-06	0	0	6.571e-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	0.164	0.23360	T	0.135	0.34124	T	0.18	0.29046	B	0.044	0.24394	B	0.006972	0.31682	N	0.143558	0.88612	0.35852	D	2.39	0.68882	M	0.55	0.54728	T	-0.91	0.24460	N	0.195	0.21449	-0.7149	0.59712	T	0.192	0.54506	T	10	0.11080611	0.20725	T	0.031573	0.53626	D	0.106	0.30130	0.205	0.12076	0.72024247472	0.71777	0.438842147396725	0.43801	0.0312905223843	0.03243	0.310707658529	0.12013	T	0.065466	0.32696	T	-0.212672	0.19005	T	-0.527779	0.19508	T	0.311687797307968	0.25484	T	0.629237	0.24427	T	0.069557264	0.15247	0.083015196	0.18992	0.069557264	0.15247	0.083015196	0.18992	-5.663	0.43363	T	.	.	0.126	0.26731	B	.	.	2.812964	0.37040	20.4	0.9879614685179785	0.46381	0.83941	0.43030	D	AEFDBI	0.236845	0.35923	N	0.00545307198755172	0.42102	2.530547	0.0641059176471127	0.42758	2.591962	0.997758850775621	0.35989	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.37	4.5	0.54382	2.495000	0.44997	1.735000	0.28356	0.599000	0.40250	0.927000	0.32177	0.161000	0.23262	0.942000	0.48361	0.0:0.8504:0.0:0.1496	11.023	0.46942	813	0.42397	Cysteine-rich flanking region, C-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	0.02381	1573.98	37	chr3	151449185	.	C	T	1573.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.50;DP=926;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.81;ReadPosRankSum=1.07;SOR=0.693	GT:AD:DP:GQ:PL	0/1:57,57:114:99:1588,0,1456	20	0	1	0
chr3	154122017	154122017	T	A	exonic	ARHGEF26	.	nonsynonymous SNV	ARHGEF26:NM_001251962:exon2:c.T25A:p.F9I	.	.	427	1033	57	5	0	67	0.0314112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.001	B	0.003	B	0.000	D	0.559	D	0.695	N	2.04	T	-1.012	T	0.071	T	0.153	3.503	17.90	2.38	0.653	0.634	5.602	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	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	5680.68	35	chr3	154122017	.	T	A	5680.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.523e+00;DP=1115;ExcessHet=0.3300;FS=0.517;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=-2.990e-01;SOR=0.655	GT:AD:DP:GQ:PL	0/1:74,71:145:99:1654,0,1980	18	0	3	0
chr3	155853645	155853645	G	A	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C353T:p.P118L	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2825036	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.69	H	-1.41	T	0.779	D	0.787	D	0.924	5.278	33	5.57	2.788	7.646	19.982	0.916	0.180330631785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	4.29	0.98219	H	-1.41	0.80560	T	-9.7	0.98602	D	0.933	0.93841	0.779	0.94149	D	0.787	0.92761	D	10	0.9592407	0.95314	D	0.180331	0.85482	D	0.916	0.97814	0.831	0.94042	0.971361032142	0.97104	0.9490389787202539	0.94886	2.26454559714	0.96209	0.848731040955	0.89423	D	0.814515	0.95400	D	0.434457	0.91756	D	0.386291	0.91653	D	0.999908089637756	0.99629	D	0.999721	0.99933	D	0.9729656	0.98529	0.93255115	0.97270	0.9729656	0.98529	0.93255115	0.97270	-13.696	0.92027	D	0.9927983798285628	0.99830	0.978	0.91951	P	.;.;.;.	.;.;.;.	5.608546	0.92513	32	0.9991421996857478	0.98309	0.83916	0.43007	D	AEFDBCI	.	.	.	1.03282578913964	0.96667	14.98475	0.957979052715463	0.97636	16.478	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	5.57	0.84021	7.744000	0.83944	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.982	0.97333	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3235	3698.37	37	chr3	155853645	.	G	A,C	3698.37	.	AC=2,9;AF=0.059,0.265;AN=34;BaseQRankSum=-3.879e+00;DP=2059;ExcessHet=7.7275;FS=226.061;InbreedingCoeff=-0.4474;MLEAC=2,10;MLEAF=0.059,0.294;MQ=60.00;MQRankSum=0.00;QD=2.91;ReadPosRankSum=1.31;SOR=11.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:78,14,38:130:99:.:.:693,200,2278,0,2049,2076	6	0	2	4
chr3	155853645	155853645	G	C	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C353G:p.P118R	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1016191	Hereditary_spastic_paraplegia_42	MONDO:MONDO:0012928,MedGen:C2675528,OMIM:612539,Orphanet:171863	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.69	H	-1.41	T	0.779	D	0.787	D	0.955	4.886	28.0	5.57	2.788	7.646	19.982	0.936	0.221168805032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0016	0.0008	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	0.0009	0	0.0003	0.0002	0	0.0002	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	4.29	0.98219	H	-1.41	0.80560	T	-8.72	0.97670	D	0.955	0.96416	0.779	0.94149	D	0.787	0.92761	D	10	0.9656291	0.96041	D	0.221169	0.87793	D	0.936	0.98563	0.852	0.95318	0.981310105081	0.98110	0.9652344313428964	0.96510	2.3006740423	0.96469	0.845638930798	0.88955	D	0.814515	0.95400	D	0.434482	0.91756	D	0.386327	0.91654	D	0.999483108520508	0.97590	D	0.999658	0.99877	D	0.97771263	0.98930	0.9704348	0.99484	0.97771263	0.98930	0.9704348	0.99484	-15.861	0.97545	D	0.9924786288168476	0.99821	0.997	0.97160	P	.;.;.;.	.;.;.;.	5.657968	0.92855	33	0.99869421297510097	0.94726	0.91924	0.54558	D	AEFDBCI	.	.	.	1.03282578913964	0.96667	14.98475	0.957979052715463	0.97636	16.478	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	5.57	0.84021	7.744000	0.83944	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.982	0.97333	839	0.37672	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3235	3698.37	37	chr3	155853645	.	G	A,C	3698.37	.	AC=2,9;AF=0.059,0.265;AN=34;BaseQRankSum=-3.879e+00;DP=2059;ExcessHet=7.7275;FS=226.061;InbreedingCoeff=-0.4474;MLEAC=2,10;MLEAF=0.059,0.294;MQ=60.00;MQRankSum=0.00;QD=2.91;ReadPosRankSum=1.31;SOR=11.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:78,14,38:130:99:.:.:693,200,2278,0,2049,2076	6	0	2	4
chr3	157381267	157381267	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1016G:p.S339C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.016	B	0.006	B	0.008	N	1.000	D	1.1	L	3.02	T	-1.085	T	0.025	T	0.19	1.903	12.32	5.47	2.569	1.889	10.655	0.047	0.00405651869442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.706e-05	0.0015	3.271e-05	2.14e-05	3.398e-05	2.012e-05	1.762e-05	2.487e-05	2.207e-05	3.089e-05	0	0	0	0	0	3.398e-05	1.71e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.094	0.39799	T	0.016	0.17332	B	0.006	0.12133	B	0.007582	0.31308	N	0.359250	0.787702	0.29261	N	1.43	0.35840	L	3.01	0.09075	T	-1.91	0.46337	N	0.318	0.36674	-1.0854	0.06335	T	0.025	0.10464	T	10	0.14302394	0.27159	T	0.004057	0.09681	T	0.047	0.12962	0.413	0.45052	0.203808441222	0.19973	0.21481885595038	0.21397	0.0389899136919	0.04147	0.438936650753	0.30431	T	0.149031	0.48786	T	-0.240838	0.15241	T	-0.583723	0.14213	T	0.213982076796247	0.21159	T	0.79972	0.44511	T	0.09153386	0.21449	0.07893088	0.17725	0.09153386	0.21449	0.07893088	0.17725	-7.287	0.56309	T	.	.	0.085	0.11269	B	.;.;.	.;.;.	3.162719	0.42862	21.6	0.91500678835389826	0.20774	0.88574	0.48565	D	AEFDBI	0.301950	0.41033	N	-0.0840343711138489	0.38093	2.225797	0.083874411417393	0.43736	2.669398	0.99938992129566	0.39415	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	1.981000	0.40250	9.905000	0.82381	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.848000	0.40082	0.0:0.1414:0.7122:0.1463	10.655	0.44865	734	0.53889	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	6359.01	153	chr3	157381267	.	G	C	6359.01	.	AC=8;AF=0.250;AN=32;BaseQRankSum=-4.595e+00;DP=3537;ExcessHet=3.5521;FS=96.014;InbreedingCoeff=-0.3383;MLEAC=10;MLEAF=0.313;MQ=60.00;MQRankSum=0.00;QD=3.69;ReadPosRankSum=1.96;SOR=11.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,47:214:99:0|1:157381266_G_C:1380,0,6784:157381266	8	0	8	5
chr3	157381269	157381269	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1014G:p.F338L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.986	D	0.716	P	0.000	D	1.000	D	1.78	L	2.87	T	-1.157	T	0.050	T	0.611	2.725	15.07	4.6	1.319	7.223	13.320	0.234	0.00696849747109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.197e-05	0.0013	1.98e-05	2.414e-05	2.814e-05	1.574e-05	1.372e-05	1.996e-05	1.733e-05	0	0	0	0	0	0	2.814e-05	1.703e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.075	0.43344	T	0.986	0.61523	D	0.716	0.54713	P	0.000000	0.84330	D	0.052188	0.999883	0.50402	D	1.79	0.46772	L	2.8	0.11082	T	-2.64	0.60827	D	0.629	0.64308	-1.1573	0.00823	T	0.050	0.21300	T	10	0.65501356	0.69822	D	0.006968	0.18458	T	0.234	0.53644	0.566	0.68768	0.380052290102	0.37618	0.540766503490007	0.54001	0.0497134926514	0.05451	0.693336129189	0.66186	T	0.39328	0.75273	T	-0.0694684	0.41412	T	-0.337563	0.40622	T	0.937143862247467	0.60670	D	0.890411	0.63503	D	0.3446262	0.56645	0.22055541	0.46835	0.3446262	0.56645	0.22055541	0.46834	-10.426	0.76421	D	.	.	0.981	0.91639	P	.;.;.	.;.;.	4.365249	0.67160	25.1	0.99181655721304818	0.54701	0.98496	0.83394	D	AEFDBI	0.895770	0.83615	D	0.298767961957114	0.56086	3.772896	0.29353445057777	0.55160	3.679457	0.999999819584022	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	4.6	0.56512	7.371000	0.78858	5.894000	0.50799	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.814000	0.38357	0.0755:0.0:0.9245:0.0	13.320	0.59864	734	0.53889	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2353	6222.97	159	chr3	157381269	.	G	C	6222.97	.	AC=8;AF=0.235;AN=34;BaseQRankSum=-6.295e+00;DP=3622;ExcessHet=3.5521;FS=94.732;InbreedingCoeff=-0.3126;MLEAC=9;MLEAF=0.265;MQ=60.00;MQRankSum=0.00;QD=3.60;ReadPosRankSum=1.96;SOR=11.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,47:217:99:0|1:157381266_G_C:1371,0,6918:157381266	9	0	8	4
chr3	157381272	157381276	GGTGT	-	exonic	VEPH1	.	frameshift deletion	VEPH1:NM_001167911:exon7:c.1007_1011del:p.D336Vfs*24	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	5793.21	203	chr3	157381271	.	AGGTGT	A,AT	5793.21	.	AC=5,3;AF=0.119,0.071;AN=42;BaseQRankSum=-3.886e+00;DP=4123;ExcessHet=3.5521;FS=94.048;InbreedingCoeff=-0.2353;MLEAC=5,3;MLEAF=0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=3.32;ReadPosRankSum=2.17;SOR=11.277	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:172,47,0:219:99:0|1:157381266_G_C:1364,0,6997,1882,7138,9020:157381266	13	0	5	0
chr3	157381272	157381275	GGTG	-	exonic	VEPH1	.	frameshift deletion	VEPH1:NM_001167911:exon7:c.1008_1011del:p.T337Sfs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	0.0002	1.363e-06	2.754e-06	2.702e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.702e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	5793.21	203	chr3	157381271	.	AGGTGT	A,AT	5793.21	.	AC=5,3;AF=0.119,0.071;AN=42;BaseQRankSum=-3.886e+00;DP=4123;ExcessHet=3.5521;FS=94.048;InbreedingCoeff=-0.2353;MLEAC=5,3;MLEAF=0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=3.32;ReadPosRankSum=2.17;SOR=11.277	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:172,47,0:219:99:0|1:157381266_G_C:1364,0,6997,1882,7138,9020:157381266	13	0	5	0
chr3	157381275	157381275	G	0	exonic	VEPH1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1191.7	160	chr3	157381275	.	G	*,GCCCC	1191.7	.	AC=3,3;AF=0.107,0.107;AN=28;BaseQRankSum=-1.117e+00;DP=3156;ExcessHet=1.7912;FS=101.214;InbreedingCoeff=-0.3105;MLEAC=4,4;MLEAF=0.143,0.143;MQ=60.00;MQRankSum=0.00;QD=0.88;ReadPosRankSum=0.952;SOR=10.970	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:172,47,0:219:99:0|1:157381266_G_C:1364,0,6997,1882,7138,9020:157381266	8	0	3	7
chr3	157381275	157381275	-	CCCC	exonic	VEPH1	.	frameshift insertion	VEPH1:NM_001167911:exon7:c.1007_1008insGGGG:p.D336Efs*27	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1191.7	160	chr3	157381275	.	G	*,GCCCC	1191.7	.	AC=3,3;AF=0.107,0.107;AN=28;BaseQRankSum=-1.117e+00;DP=3156;ExcessHet=1.7912;FS=101.214;InbreedingCoeff=-0.3105;MLEAC=4,4;MLEAF=0.143,0.143;MQ=60.00;MQRankSum=0.00;QD=0.88;ReadPosRankSum=0.952;SOR=10.970	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:172,47,0:219:99:0|1:157381266_G_C:1364,0,6997,1882,7138,9020:157381266	8	0	3	7
chr3	157381276	157381276	-	CCCCC	exonic	VEPH1	.	frameshift insertion	VEPH1:NM_001167911:exon7:c.1006_1007insGGGGG:p.D336Gfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1389	3552.87	37	chr3	157381276	.	T	TCCCCC	3552.87	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-4.087e+00;DP=2099;ExcessHet=1.1607;FS=91.920;InbreedingCoeff=-0.1831;MLEAC=6;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=3.43;ReadPosRankSum=2.44;SOR=10.188	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,47:215:99:0|1:157381266_G_C:1376,0,6836:157381266	13	0	5	3
chr3	179250780	179250780	A	C	exonic	KCNMB3	.	nonsynonymous SNV	KCNMB3:NM_171830:exon1:c.T211G:p.L71V	.	.	429	1039	54	0	0	54	0.0253283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.117	B	0.106	B	0.004	N	0.740	D	0.755	N	2.99	T	-0.966	T	0.004	T	0.214	1.602	11.31	0.942	-0.050	0.473	5.147	0.017	.	0.0019	0.0223642	0.0146	0.0008	0.0032	0.0395	0	0.0034	0.0077	0.0700	0.0129817	2007	154602	rs2276802	0.0072	0.0072	0.0051	0.0092	0.0684	0.0070	0.0070	0.0670	0.0664	0.0010	0.0031	0.0127	0.0326	9.36e-05	0.0218	0.0019	0.0093	0.0684	0.0053	0.0053	0.0040	0.0067	0.0642	0.0050	0.0049	0.0584	0.0561	0.0005	0	0.0055	0.0144	0.0357	0.0002	0.0102	0.0022	0.0038	0.0642	0.439	0.09291	T	0.738	0.08161	T	0.096	0.26519	B	0.038	0.31143	B	0.004138	0.34080	N	0.282759	0.617331	0.33807	D	1.295	0.32453	L	2.99	0.09262	T	-0.14	0.11366	N	0.059	0.07398	-0.9656	0.38092	T	0.004	0.01400	T	10	0.0046563745	0.00097	T	.	.	.	0.017	0.02790	.	.	.	.	0.4353581307616459	0.43452	0.226695250779	0.25215	0.263702362776	0.05340	T	0.001194	0.00692	T	-0.628976	0.00097	T	-0.625206	0.10781	T	0.00568234835327469	0.00062	T	0.693531	0.30321	T	0.03342323	0.03559	0.027471302	0.00903	0.03342323	0.03558	0.027471302	0.00903	-5.274	0.54223	T	.	.	0.122	0.27968	B	.;.;.;.;.	.;.;.;.;.	1.193052	0.15847	12.14	0.95592976965032206	0.27316	0.52621	0.29175	D	AEFBCI	0.095312	0.19259	N	-0.470201504834976	0.23062	1.235759	-0.326274033879087	0.27252	1.51095	0.999465146575166	0.39843	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.94	0.942	0.18648	0.476000	0.21890	0.513000	0.19097	0.658000	0.54486	0.997000	0.40164	0.896000	0.27899	0.989000	0.64315	0.6203:0.1436:0.2361:0.0	5.147	0.14320	808	0.43318	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	5235.68	34	chr3	179250780	.	A	C	5235.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.132e+00;DP=1125;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.93;ReadPosRankSum=-7.530e-01;SOR=0.661	GT:AD:DP:GQ:PL	0/1:66,77:143:99:1945,0,1631	18	0	3	0
chr3	180616670	180616670	C	T	exonic	CCDC39	.	nonsynonymous SNV	CCDC39:NM_181426:exon18:c.G2432A:p.R811H,	Ciliary dyskinesia, primary, 14	.	91	1397	29	5	0	39	0.0137663	.	.	173761	not_provided|not_specified|Primary_ciliary_dyskinesia_14|Primary_ciliary_dyskinesia	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013434,MedGen:C3151136,OMIM:613807,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.992	D	0.562	P	.	.	1.000	D	2.645	M	-1.25	T	-0.379	T	0.187	T	0.431	4.032	20.7	5.14	2.671	3.227	10.436	0.388	.	0.0033	0.0125799	0.0102	0.0021	0.0078	0.0672	0.0013	0.0052	0.0039	0.0091	0.0068046	1052	154602	rs61733583	0.0050	0.0050	0.0049	0.0051	0.0440	0.0049	0.0048	0.0423	0.0416	0.0016	0.0057	0.0069	0.0440	0.0004	0.0180	0.0035	0.0075	0.0068	0.0051	0.0052	0.0049	0.0054	0.0512	0.0048	0.0047	0.0462	0.0442	0.0018	0	0.0077	0.0063	0.0512	0.0006	0.0034	0.0038	0.0047	0.0068	0.005	0.63226	D	0.064	0.44905	T	0.992	0.64738	D	0.562	0.49608	P	.	.	.	.	0.992986	0.81001	D	2.565	0.75005	M	-1.25	0.79072	T	-3.12	0.63782	D	0.429	0.46835	-0.3785	0.72698	T	0.187	0.53707	T	8	0.005194932	0.00113	T	.	.	.	0.388	0.70440	.	.	0.798611091458	0.79673	.	.	0.321630559139	0.34361	0.318488717079	0.13191	T	0.041716	0.25949	T	-0.295907	0.09051	T	-0.152264	0.59042	T	0.0232063556498541	0.01047	T	0.819518	0.47762	T	0.1524037	0.34598	0.14279647	0.33959	0.13467056	0.31280	0.124521025	0.30012	-5.357	0.40504	T	.	.	.	.	.	.	.	4.940641	0.81535	27.6	0.99947000166715183	0.99913	0.83296	0.42424	D	AEFGBCI	0.380059	0.46284	N	0.528086855526089	0.68757	5.261348	0.517918607435478	0.69197	5.326065	0.998145951419719	0.36487	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	5.14	5.14	0.70008	3.277000	0.51358	4.829000	0.45183	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.7886:0.1367:0.0747	10.436	0.43621	605	0.67457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2509.11	36	chr3	180616670	.	C	T	2509.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.90;DP=896;ExcessHet=0.1072;FS=2.388;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=0.429;SOR=0.864	GT:AD:DP:GQ:PL	0/1:50,52:102:99:1338,0,1144	19	0	2	0
chr3	184886122	184886122	G	A	exonic	VPS8	.	nonsynonymous SNV	VPS8:NM_001349296:exon20:c.G1708A:p.V570I	.	.	437	1071	14	0	0	14	0.00649351	.	.	720328	VPS8-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.44	T	0.865	P	0.421	B	0.002	N	1.000	D	1.04	L	2.07	T	-1.043	T	0.025	T	0.16	3.369	17.36	2.1	0.112	2.131	6.117	0.061	0.00888207575459	0.0043	0.000998403	0.0040	0.0015	0.0015	0	0.0002	0.0062	0.0086	0.0020	0.0028784	445	154602	rs61742617	0.0038	0.0038	0.0038	0.0038	0.0052	0.0037	0.0037	0.0044	0.0044	0.0006	0.0012	0.0017	2.527e-05	0.0004	0.0052	0.0045	0.0032	0.0018	0.0026	0.0026	0.0030	0.0021	0.0045	0.0024	0.0023	0.0041	0.0039	0.0011	0	0.0014	0.0003	0	0.0002	0.0068	0.0045	0.0052	0.0019	0.038	0.42783	D	0.122	0.35710	T	0.865	0.47557	P	0.421	0.45113	B	0.001579	0.38612	N	0.257927	0.990834	0.81001	D	1.79	0.46772	L	2.07	0.20387	T	-0.37	0.13226	N	0.261	0.31590	-1.0432	0.16354	T	0.025	0.10598	T	10	0.011211127	0.00246	T	0.008882	0.23415	T	0.061	0.17616	.	.	0.354610295913	0.35065	0.35082575116241993	0.34996	.	.	0.336408913136	0.15899	T	0.016591	0.13686	T	-0.516923	0.00458	T	-0.511994	0.21110	T	0.0160576871120795	0.00385	T	0.860314	0.55333	D	0.047003925	0.07961	0.052382987	0.08618	0.047003925	0.07961	0.052382987	0.08617	-6.081	0.46952	T	.	.	0.078	0.07412	B	.;.;.	.;.;.	1.785745	0.22700	15.73	0.99558418248310299	0.71583	0.90107	0.51028	D	AEFBI	0.183403	0.31073	N	-0.0418415516867627	0.39967	2.365649	0.013562200068986	0.40343	2.406199	2.565026486874E-4	0.06190	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.83	2.1	0.26226	2.102000	0.41421	0.130000	0.15034	0.656000	0.54149	0.997000	0.40164	0.001000	0.17328	0.999000	0.91618	0.2366:0.0:0.6434:0.1201	6.117	0.19354	744	0.52588	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1377.98	35	chr3	184886122	.	G	A	1377.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.390e-01;DP=803;ExcessHet=0.0000;FS=5.562;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.48;ReadPosRankSum=0.862;SOR=0.556	GT:AD:DP:GQ:PL	0/1:57,63:120:99:1392,0,1260	20	0	1	0
chr3	184957468	184957468	G	A	exonic	VPS8	.	nonsynonymous SNV	VPS8:NM_001349296:exon35:c.G3091A:p.V1031I	.	.	433	1085	4	0	0	4	0.00183993	.	.	804998	Flexion_contracture	Human_Phenotype_Ontology:HP:0001371,Human_Phenotype_Ontology:HP:0001372,Human_Phenotype_Ontology:HP:0001381,Human_Phenotype_Ontology:HP:0005053,Human_Phenotype_Ontology:HP:0005189,Human_Phenotype_Ontology:HP:0005660,MedGen:C0333068	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.635	P	0.227	B	0.000	D	1.000	D	2.445	M	1.06	T	-0.862	T	0.137	T	0.474	3.047	16.17	4.72	1.349	5.598	13.754	0.180	0.0167234269749	.	0.000199681	7.868e-05	0	0.0001	0	0	8.863e-05	0	0.0001	5.82e-05	9	154602	rs566967979	6.3e-05	6.293e-05	3.27e-05	9.362e-05	0.0021	5.233e-05	4.85e-05	0.0012	0.0009	2.988e-05	0	0	0	0	0.0021	3.959e-05	0.0001	0.0003	1.313e-05	1.312e-05	0	2.686e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.093	0.31834	T	0.227	0.25514	T	0.521	0.40310	P	0.111	0.38084	B	0.000069	0.52346	D	0.127025	0.996713	0.43371	D	2.485	0.72352	M	1.06	0.39781	T	-0.65	0.18877	N	0.655	0.66529	-0.8617	0.51140	T	0.137	0.45318	T	10	0.21170217	0.37606	T	0.016723	0.38109	T	0.180	0.45073	0.463	0.53242	0.267299060538	0.26338	0.31093084398566456	0.31006	.	.	0.438448250294	0.30365	T	0.067224	0.33148	T	-0.25627	0.13340	T	-0.313742	0.43255	T	0.101022997347651	0.12469	T	0.837116	0.50934	T	0.044799224	0.07223	0.055745754	0.09836	0.044799224	0.07222	0.055745754	0.09836	-8.35	0.64030	D	.	.	0.126	0.26576	B	.;.;.;.	.;.;.;.	3.082211	0.41468	21.4	0.98918993946324763	0.48527	0.93261	0.57746	D	AEFBI	0.278942	0.39310	N	0.154748971832413	0.49035	3.10865	0.22558713515716	0.51271	3.311145	0.0178508517183418	0.12995	0.732398	0.92422	0	0.709663	0.81188	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.61	4.72	0.59248	5.927000	0.69800	9.823000	0.81815	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.1543:0.8457:0.0	13.754	0.62410	699	0.57969	.;.;.;.	.	.	.	.	.	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	0.04762	2713.11	48	chr3	184957468	.	G	A	2713.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.955;DP=1066;ExcessHet=0.1072;FS=0.432;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.26;ReadPosRankSum=0.881;SOR=0.640	GT:AD:DP:GQ:PL	0/1:82,49:131:99:1061,0,1915	19	0	2	0
chr3	186150149	186150149	C	T	exonic	DGKG	.	nonsynonymous SNV	DGKG:NM_001080744:exon24:c.G2242A:p.G748R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.98	D	0.000	D	1.000	D	1.63	L	1.08	T	0.305	D	0.635	D	0.898	3.407	17.51	5.17	2.890	3.552	14.714	0.507	0.0756191474403	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.257	0.24767	T	0.999	0.77913	D	0.98	0.74843	D	0.000000	0.84330	D	0.053784	0.999971	0.53665	D	2.055	0.56616	M	-1.5	0.82897	D	-3.88	0.72710	D	0.593	0.61256	0.305	0.87639	D	0.635	0.87238	D	10	0.5520634	0.64311	D	0.075619	0.72333	D	0.507	0.78786	0.249	0.18602	0.933017780686	0.93233	0.7102962554381471	0.70971	0.459601170167	0.45536	0.678146123886	0.64003	T	0.346763	0.71497	T	0.357325	0.87049	D	0.275496	0.86880	D	0.992500960826874	0.83000	D	0.962804	0.86152	D	0.67087865	0.76480	0.65142685	0.79603	0.67087865	0.76481	0.65142685	0.79604	-11.673	0.83222	D	.	.	0.984	0.91905	P	.;.;.	.;.;.	4.983760	0.82574	27.8	0.99841132767212915	0.92143	0.84579	0.43662	D	AEFBI	0.591343	0.58748	D	0.639881009863553	0.75714	6.355309	0.668990091756446	0.80033	7.209598	0.991175241475773	0.32398	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.07	5.17	0.70848	3.314000	0.51653	6.028000	0.52885	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.856:0.144:0.0	14.714	0.68872	925	0.17918	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	260.64	22	chr3	186150149	.	C	T,G	260.64	.	AC=2,1;AF=0.050,0.025;AN=40;BaseQRankSum=-2.888e+00;DP=691;ExcessHet=0.3300;FS=108.433;InbreedingCoeff=-0.0946;MLEAC=2,1;MLEAF=0.050,0.025;MQ=60.00;MQRankSum=0.00;QD=2.17;ReadPosRankSum=0.361;SOR=6.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:26,0,5:31:99:0|1:186150149_C_G:104,182,1238,0,1056,1041:186150149	17	0	2	1
chr3	186150149	186150149	C	G	exonic	DGKG	.	nonsynonymous SNV	DGKG:NM_001080744:exon24:c.G2242C:p.G748R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.98	D	0.000	D	1.000	D	1.63	L	1.08	T	0.305	D	0.635	D	0.898	3.284	17.03	5.17	2.890	3.552	14.714	0.509	0.0722433925333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.257	0.24767	T	0.999	0.77913	D	0.98	0.74843	D	0.000000	0.84330	D	0.053784	0.999972	0.53665	D	2.055	0.56616	M	-1.5	0.82897	D	-3.88	0.72710	D	0.593	0.61256	0.305	0.87639	D	0.635	0.87238	D	10	0.541586	0.63750	D	0.072243	0.71480	D	0.509	0.78910	0.249	0.18602	0.933017780686	0.93233	0.710296282980216	0.70971	0.459601170167	0.45536	0.678146123886	0.64003	T	0.346763	0.71497	T	0.357322	0.87049	D	0.275492	0.86879	D	0.992132842540741	0.82542	D	0.962804	0.86152	D	0.67087865	0.76480	0.65142685	0.79603	0.67087865	0.76481	0.65142685	0.79604	-11.673	0.83222	D	.	.	0.984	0.91905	P	.;.;.	.;.;.	4.940221	0.81522	27.6	0.99863309659222388	0.94184	0.83581	0.42689	D	AEFBI	0.486162	0.52545	N	0.639881009863553	0.75714	6.355309	0.668990091756446	0.80033	7.209598	0.991175241475773	0.32398	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.07	5.17	0.70848	3.314000	0.51653	6.028000	0.52885	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.856:0.144:0.0	14.714	0.68872	925	0.17918	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.075	260.64	22	chr3	186150149	.	C	T,G	260.64	.	AC=2,1;AF=0.050,0.025;AN=40;BaseQRankSum=-2.888e+00;DP=691;ExcessHet=0.3300;FS=108.433;InbreedingCoeff=-0.0946;MLEAC=2,1;MLEAF=0.050,0.025;MQ=60.00;MQRankSum=0.00;QD=2.17;ReadPosRankSum=0.361;SOR=6.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:26,0,5:31:99:0|1:186150149_C_G:104,182,1238,0,1056,1041:186150149	17	0	2	1
chr3	186150150	186150150	C	G	exonic	DGKG	.	nonsynonymous SNV	DGKG:NM_001080744:exon24:c.G2241C:p.M747I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.103	B	0.083	B	0.000	D	0.595	N	1.935	M	1.14	T	-0.851	T	0.122	T	0.548	2.696	14.98	5.19	2.890	3.560	12.944	0.123	0.0085120324625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.156e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.48186	D	0.119	0.37589	T	0.103	0.25884	B	0.034	0.25434	B	0.000053	0.53742	D	0.171825	0.594779	0.30990	N	1.23	0.30720	L	1.07	0.39586	T	-1.95	0.45222	N	0.261	0.35727	-0.8513	0.51878	T	0.122	0.42272	T	10	0.17578414	0.32528	T	0.008512	0.22507	T	0.123	0.34020	0.255	0.19533	0.533276065955	0.52977	0.1464589451172773	0.14567	0.117119508686	0.13201	0.534925818443	0.43728	T	0.116513	0.43590	T	-0.0731769	0.40820	T	-0.34289	0.40017	T	0.780353784561157	0.45072	D	0.923208	0.72041	D	0.3366612	0.56012	0.30383834	0.56414	0.3366612	0.56012	0.30383834	0.56413	-6.908	0.53358	T	.	.	0.370	0.59948	A	.;.;.	.;.;.	3.868216	0.56145	23.7	0.99043586559296637	0.51073	0.88944	0.49124	D	AEFBI	0.615783	0.60259	D	0.181705937295168	0.50321	3.223196	0.343357321105073	0.58108	3.979573	0.991815421124812	0.32618	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.07	5.19	0.71428	3.320000	0.51702	5.982000	0.52185	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9229:0.0:0.0771	12.944	0.57756	925	0.17918	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1071	277.02	22	chr3	186150150	.	C	G	277.02	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-1.574e+00;DP=616;ExcessHet=0.3300;FS=108.433;InbreedingCoeff=-0.1922;MLEAC=4;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=2.31;ReadPosRankSum=0.292;SOR=6.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,5:31:99:0|1:186150149_C_G:104,0,1041:186150149	11	0	3	7
chr3	186150151	186150151	A	G	exonic	DGKG	.	nonsynonymous SNV	DGKG:NM_001080744:exon24:c.T2240C:p.M747T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.945	P	0.652	P	0.000	D	0.650	N	1.59	L	1.05	T	-0.791	T	0.136	T	0.768	2.004	12.66	4.9	2.330	4.437	10.270	0.143	0.0148488252476	.	.	9.186e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs764536140	0	3.426e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.577e-06	6.569e-06	1.286e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.025	0.47320	D	0.128	0.34959	T	0.945	0.53279	P	0.652	0.52532	P	0.000053	0.53742	D	0.171825	0.649523	0.30545	N	1.43	0.35840	L	1.05	0.42122	T	-3.04	0.62863	D	0.333	0.40665	-0.7914	0.55648	T	0.136	0.45068	T	10	0.20008764	0.36043	T	0.014849	0.35231	T	0.143	0.38195	.	.	0.672509336206	0.66973	0.306322739120449	0.30545	0.213405914334	0.23852	0.605171561241	0.53635	T	0.326708	0.69729	T	-0.0883631	0.38348	T	-0.182557	0.56287	T	0.235707968511018	0.22221	T	0.868613	0.57103	D	0.31741124	0.54420	0.39021182	0.63821	0.31741124	0.54420	0.39021182	0.63821	-8.677	0.67737	D	.	.	0.402	0.59694	A	.;.;.	.;.;.	4.251704	0.64538	24.7	0.9490986179220593	0.25771	0.83225	0.42360	D	AEFBI	0.477544	0.52049	N	0.334716964098364	0.57937	3.963371	0.433533912674598	0.63668	4.605017	0.945156828995575	0.27648	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.07	4.9	0.63643	4.150000	0.57871	7.078000	0.57462	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9229:0.0:0.0771:0.0	10.270	0.42656	925	0.17918	.;.;.	.	.	.	.	.	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	0.1364	283.21	22	chr3	186150151	.	A	G	283.21	.	AC=3;AF=0.136;AN=22;BaseQRankSum=0.482;DP=674;ExcessHet=0.3300;FS=108.433;InbreedingCoeff=-0.2522;MLEAC=5;MLEAF=0.227;MQ=60.00;MQRankSum=0.00;QD=2.36;ReadPosRankSum=0.400;SOR=6.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,5:31:99:0|1:186150149_C_G:104,0,1041:186150149	8	0	3	10
chr3	195725046	195725046	G	T	exonic	MUC20	.	nonsynonymous SNV	MUC20:NM_001282506:exon2:c.G443T:p.S148I	.	.	437	1047	37	1	0	39	0.0182841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.992	D	0.000	D	1.000	N	1.15	L	2.26	T	-0.874	T	0.115	T	0.673	2.661	14.86	3.63	1.225	2.223	8.898	0.161	0.0218980790304	.	.	8.293e-06	0.0001	0	0	0	0	0	0	0.0026894	70	26028	rs369019587	0.0003	0.0024	0.0003	0.0003	0.0063	0.0003	0.0003	0.0056	0.0053	0.0063	0.0005	0.0002	0.0004	0.0002	0.0016	6.594e-05	0.0003	0.0010	0.0010	0.0073	0.0009	0.0012	0.0016	0.0009	0.0008	0.0009	0.0008	0.0008	0.0012	0.0011	0.0006	0.0011	0.0015	0	0.0011	0	0.0016	0.021	0.50132	D	0.015	0.61642	D	1.0	0.90584	D	0.992	0.80445	D	0.000069	0.52346	D	0.000000	1	0.81001	D	1.895	0.50365	L	2.11	0.27486	T	-2.07	0.78046	N	0.511	0.60241	-0.8738	0.50241	T	0.115	0.40740	T	10	0.009695768	0.00218	T	0.021898	0.44729	T	0.161	0.41658	0.375	0.38830	0.0401082797425	0.02173	0.38443668743494736	0.38358	.	.	0.296985238791	0.09953	T	0.051845	0.48691	T	-0.0104339	0.50204	T	-0.252764	0.49543	T	0.0180324871293138	0.00527	T	0.522848	0.17081	T	0.18034686	0.39151	0.17408364	0.39779	0.18034686	0.39151	0.17408364	0.39778	-3.878	0.21973	T	.	.	0.198	0.45593	B	.;.;.;.	.;.;.;.	3.182996	0.43212	21.7	0.99587376711661724	0.73395	0.85805	0.44979	D	AEFDI	0.070631	0.14029	N	0.31139379516342	0.56734	3.838514	0.253520388367582	0.52850	3.457138	0.00138654049803063	0.08495	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.52	3.63	0.40741	1.468000	0.34941	5.911000	0.51023	0.670000	0.69193	0.999000	0.42656	1.000000	0.68203	0.848000	0.40082	0.1045:0.0:0.8955:0.0	8.898	0.34636	851	0.35303	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05263	370.56	155	chr3	195725046	.	G	T	370.56	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.05;DP=3216;ExcessHet=0.1128;FS=91.877;InbreedingCoeff=-0.0670;MLEAC=2;MLEAF=0.053;MQ=38.88;MQRankSum=-4.058e+00;QD=1.54;ReadPosRankSum=-2.877e+00;SOR=8.086	GT:AD:DP:GQ:PL	0/1:137,22:159:99:185,0,3127	17	0	2	2
chr3	195779036	195779036	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3667	73.76	280	chr3	195779036	.	T	*,G	73.76	.	AC=10,3;AF=0.333,0.100;AN=30;BaseQRankSum=-1.320e+00;DP=7021;ExcessHet=0.4264;FS=3.231;InbreedingCoeff=0.0544;MLEAC=13,4;MLEAF=0.433,0.133;MQ=54.24;MQRankSum=-3.656e+00;QD=0.02;ReadPosRankSum=-2.400e+00;SOR=0.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:102,0,19:121:32:.:.:32,327,2497,0,2170,2116	5	1	6	6
chr3	195779467	195779467	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12113T:p.T4038I	.	.	489	991	27	9	6	51	0.0222003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	B	0.008	B	0.612	U	1.000	N	0.345	N	1.35	T	-1.010	T	0.045	T	0.055	-0.968	0.311	0.613	0.625	.	7.140	0.016	.	.	0.00559105	0.0014	0.0018	0	0.0541	0	0	0.0056	0.0005	0.0004075	63	154602	rs547189907	0.0015	0.0045	0.0014	0.0016	0.0097	0.0014	0.0014	0.0086	0.0082	0.0012	0.0038	0.0036	0.0097	0.0019	0	0.0011	0.0027	0.0018	0.0006	0.0066	0.0007	0.0006	0.0012	0.0005	0.0005	0.0004	0.0004	0.0007	0.0022	0.0002	0.0007	0.0006	0.0018	0	0.0005	0	0.0012	0.172	0.22660	T	0.035	0.52389	D	.	.	.	.	.	.	0.612157	0.10856	U	0.442567	1	0.08975	N	.	.	.	1.35	0.35405	T	-0.95	0.25332	N	0.047	0.07811	-1.0103	0.26823	T	0.045	0.19152	T	9	0.005048692	0.00109	T	.	.	.	0.016	0.02506	0.155	0.05858	0.0138822411134	0.00435	0.001401808682157997	0.00129	.	.	0.539510130882	0.44377	T	.	.	.	-0.302753	0.08403	T	-0.67266	0.07439	T	0.00595385338034555	0.00065	T	0.759324	0.38363	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.38977	B	.;.	.;.	1.228466	0.16229	12.40	0.20074522284626742	0.00706	0.00279	0.01508	N	AEFI	0.053462	0.09634	N	-1.18517779585514	0.05224	0.2376333	-1.27035857702595	0.04837	0.2291049	1.20437607759513E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	0.613	0.613	0.16773	0.461000	0.21651	-0.387000	0.09501	0.174000	0.17776	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	1.0E-4:0.0:0.9999:0.0	7.140	0.24729	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.0625	91.98	193	chr3	195779467	.	G	A	91.98	.	AC=2;AF=0.063;AN=32;DP=3685;ExcessHet=0.0000;FS=2.783;InbreedingCoeff=0.4955;MLEAC=1;MLEAF=0.031;MQ=45.49;QD=30.66;SOR=0.851	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,3:3:9:1|1:195779435_GAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAC_G:112,9,0:195779435	15	1	0	5
chr3	195780043	195780043	G	0	exonic	MUC4	.	.	.	.	.	6	91	2	1	126	130	0.0215054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	3773.39	467	chr3	195780043	.	G	A,*	3773.39	.	AC=1,10;AF=0.036,0.357;AN=28;DP=6744;ExcessHet=0.5777;FS=0.000;InbreedingCoeff=-0.0638;MLEAC=1,13;MLEAF=0.036,0.464;MQ=57.07;QD=1.27;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:8,0,169:177:99:1|1:195780016_ATGGTGTCACCTGTGGATACTGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGG_A:7294,7318,7523,346,551,0:195780016	5	0	1	7
chr3	195780046	195780046	A	0	exonic	MUC4	.	.	.	.	.	13	85	2	1	125	129	0.0229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	3773.39	467	chr3	195780046	.	A	C,*	3773.39	.	AC=1,10;AF=0.036,0.357;AN=28;DP=6719;ExcessHet=0.5777;FS=0.000;InbreedingCoeff=-0.0638;MLEAC=1,13;MLEAF=0.036,0.464;MQ=56.80;QD=1.27;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:8,0,169:177:99:1|1:195780016_ATGGTGTCACCTGTGGATACTGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGG_A:7294,7318,7523,346,551,0:195780016	5	0	1	7
chr3	195780069	195780069	G	0	exonic	MUC4	.	.	.	.	.	10	98	2	0	116	118	0.010101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3462	2997.68	313	chr3	195780069	.	G	C,*	2997.68	.	AC=1,8;AF=0.038,0.308;AN=26;DP=6315;ExcessHet=0.1204;FS=0.000;InbreedingCoeff=0.0503;MLEAC=1,11;MLEAF=0.038,0.423;MQ=56.31;QD=1.57;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:8,0,169:177:99:1|1:195780016_ATGGTGTCACCTGTGGATACTGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGG_A:7294,7318,7523,346,551,0:195780016	6	0	1	8
chr3	195780075	195780075	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2647	1468.72	313	chr3	195780075	.	T	G,*	1468.72	.	AC=1,8;AF=0.029,0.235;AN=34;DP=6273;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.1606;MLEAC=1,9;MLEAF=0.029,0.265;MQ=56.27;QD=0.77;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:8,0,169:177:99:1|1:195780016_ATGGTGTCACCTGTGGATACTGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGG_A:7294,7318,7523,346,551,0:195780016	10	0	1	4
chr3	195780092	195780092	C	0	exonic	MUC4	.	.	.	.	.	13	97	2	0	114	116	0.0102041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	3139.55	313	chr3	195780092	.	C	T,*	3139.55	.	AC=1,7;AF=0.042,0.292;AN=24;DP=6174;ExcessHet=0.0419;FS=4.756;InbreedingCoeff=0.0684;MLEAC=1,10;MLEAF=0.042,0.417;MQ=55.82;QD=2.32;SOR=0.437	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:8,0,169:177:99:1|1:195780016_ATGGTGTCACCTGTGGATACTGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGG_A:7294,7318,7523,346,551,0:195780016	6	0	1	9
chr3	195780499	195780499	G	0	exonic	MUC4	.	.	.	.	.	0	114	53	2	57	114	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	55203.73	406	chr3	195780499	.	G	A,*	55203.73	.	AC=12,7;AF=0.300,0.175;AN=40;BaseQRankSum=-3.310e-01;DP=8546;ExcessHet=0.5442;FS=0.529;InbreedingCoeff=0.0726;MLEAC=12,7;MLEAF=0.300,0.175;MQ=54.22;MQRankSum=-2.440e-01;QD=9.13;ReadPosRankSum=-4.044e+00;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:7,345,0:352:99:1|1:195780452_T_C:12944,499,0,9006,1445,11233:195780452	6	1	7	1
chr3	195780501	195780501	C	0	exonic	MUC4	.	.	.	.	.	741	294	218	40	229	527	0.336343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4667	51505.37	393	chr3	195780501	.	C	*,G	51505.37	.	AC=7,10;AF=0.233,0.333;AN=30;BaseQRankSum=-5.880e-01;DP=8384;ExcessHet=0.9330;FS=0.000;InbreedingCoeff=0.1350;MLEAC=9,13;MLEAF=0.300,0.433;MQ=54.00;MQRankSum=-3.340e-01;QD=9.32;ReadPosRankSum=-1.345e+00;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:7,0,581:588:99:.:.:24781,19077,18370,1453,1738,0	3	1	2	6
chr3	195780510	195780510	G	0	exonic	MUC4	.	.	.	.	.	1	126	41	1	57	100	0.145763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	36875.28	349	chr3	195780510	.	G	A,*	36875.28	.	AC=9,5;AF=0.265,0.147;AN=34;BaseQRankSum=0.680;DP=8180;ExcessHet=0.1645;FS=1.137;InbreedingCoeff=0.2695;MLEAC=11,6;MLEAF=0.324,0.176;MQ=53.29;MQRankSum=3.36;QD=8.07;ReadPosRankSum=-2.570e+00;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:10,306,0:316:99:1|1:195780452_T_C:11025,246,0,7025,1371,9643:195780452	7	2	3	4
chr3	195780514	195780514	G	0	exonic	MUC4	.	.	.	.	.	30	98	40	1	57	99	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	22106.14	349	chr3	195780514	.	G	*,A	22106.14	.	AC=7,7;AF=0.233,0.233;AN=30;BaseQRankSum=0.605;DP=8615;ExcessHet=0.3357;FS=1.883;InbreedingCoeff=0.2178;MLEAC=9,9;MLEAF=0.300,0.300;MQ=53.69;MQRankSum=2.63;QD=4.78;ReadPosRankSum=-2.700e+00;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:10,0,297:307:99:1|1:195780452_T_C:10795,6805,9495,299,1440,0:195780452	5	1	3	6
chr3	195780525	195780527	GTC	0	exonic	MUC4	.	.	.	.	.	583	681	21	3	234	261	0.0194384	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	5946.85	349	chr3	195780525	.	GTC	*,G	5946.85	.	AC=9,2;AF=0.321,0.071;AN=28;BaseQRankSum=-5.320e-01;DP=7947;ExcessHet=0.0073;FS=2.130;InbreedingCoeff=0.4634;MLEAC=13,3;MLEAF=0.464,0.107;MQ=52.96;MQRankSum=5.01;QD=1.90;ReadPosRankSum=1.98;SOR=0.532	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:13,0,281:294:99:1|1:195780452_T_C:9929,5964,8827,119,1407,0:195780452	7	3	3	7
chr3	195780526	195780529	TCCG	0	exonic	MUC4	.	.	.	.	.	603	642	21	1	255	278	0.0175976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	5700.23	349	chr3	195780526	.	TCCG	*,T	5700.23	.	AC=11,1;AF=0.423,0.038;AN=26;BaseQRankSum=2.59;DP=7969;ExcessHet=0.0661;FS=2.096;InbreedingCoeff=0.3651;MLEAC=16,1;MLEAF=0.615,0.038;MQ=52.99;MQRankSum=5.89;QD=1.65;ReadPosRankSum=2.36;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:14,281,0:295:99:1|1:195780526_TCCG_*:23389,1226,0,11752,754,11186:195780526	5	4	3	8
chr3	195780604	195780604	G	0	exonic	MUC4	.	.	.	.	.	455	714	336	0	17	353	0.190476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	49349.11	404	chr3	195780604	.	G	C,*	49349.11	.	AC=12,1;AF=0.333,0.028;AN=36;BaseQRankSum=1.02;DP=8148;ExcessHet=12.7758;FS=0.000;InbreedingCoeff=-0.5385;MLEAC=13,1;MLEAF=0.361,0.028;MQ=49.37;MQRankSum=2.50;QD=8.15;ReadPosRankSum=-1.380e-01;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:443,151,0:594:99:.:.:3075,0,15550,4650,13177,18234	5	0	12	3
chr3	195780620	195780620	C	0	exonic	MUC4	.	.	.	.	.	808	314	377	7	16	407	0.38371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	185617.17	454	chr3	195780620	.	C	T,*	185617.17	.	AC=14,1;AF=0.389,0.028;AN=36;BaseQRankSum=7.26;DP=8709;ExcessHet=23.1855;FS=1.891;InbreedingCoeff=-0.6027;MLEAC=16,1;MLEAF=0.444,0.028;MQ=48.79;MQRankSum=6.09;QD=25.34;ReadPosRankSum=-4.997e+00;SOR=0.543	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,510,0:614:99:1|0:195780526_TCCG_*:20193,0,2671,16913,4201,20463:195780526	3	0	14	3
chr3	195780623	195780623	C	0	exonic	MUC4	.	.	.	.	.	801	322	379	4	16	403	0.375364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	180902.17	451	chr3	195780623	.	C	T,*	180902.17	.	AC=14,1;AF=0.389,0.028;AN=36;BaseQRankSum=7.87;DP=8655;ExcessHet=23.1855;FS=2.624;InbreedingCoeff=-0.6027;MLEAC=16,1;MLEAF=0.444,0.028;MQ=48.54;MQRankSum=5.61;QD=25.01;ReadPosRankSum=-4.462e+00;SOR=0.544	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,505,0:610:99:1|0:195780526_TCCG_*:20098,0,2700,16847,4235,20481:195780526	3	0	14	3
chr3	195781134	195781134	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	33200.29	498	chr3	195781134	.	A	G,*	33200.29	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=6.18;DP=8525;ExcessHet=15.6281;FS=5.345;InbreedingCoeff=-0.5385;MLEAC=14,1;MLEAF=0.350,0.025;MQ=57.71;MQRankSum=-1.307e+01;QD=5.24;ReadPosRankSum=-7.680e-01;SOR=1.207	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:285,88,0:373:99:0|1:195781128_A_T:2713,0,11366,3570,11631,15201:195781128	6	0	13	1
chr3	195781149	195781154	GCTGGT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.10426_10431del:p.T3476_S3477del	.	.	429	865	216	1	11	229	0.11191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0145	0	0	0.0029	0	0	0	0.0351	3.84e-05	1	26028	.	0.0025	0.0021	0.0015	0.0035	0.0389	0.0024	0.0023	0.0375	0.0369	0.0001	4.844e-05	0	7.76e-05	5.404e-05	0.0012	0.0002	0.0034	0.0389	0.0031	0.0027	0.0012	0.0050	0.0817	0.0026	0.0025	0.0699	0.0654	0.0003	0	0	0	0	0	0	0.0002	0.0017	0.0817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	3997.56	481	chr3	195781148	.	GGCTGGT	G,*	3997.56	.	AC=1,12;AF=0.026,0.316;AN=38;BaseQRankSum=5.06;DP=8191;ExcessHet=12.7758;FS=8.141;InbreedingCoeff=-0.5094;MLEAC=1,13;MLEAF=0.026,0.342;MQ=56.16;MQRankSum=-1.509e+01;QD=0.72;ReadPosRankSum=-2.317e+00;SOR=1.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:288,0,72:360:99:0|1:195781128_A_T:2157,3023,14899,0,11876,11659:195781128	6	0	1	2
chr3	195781148	195781154	GGCTGGT	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	3997.56	481	chr3	195781148	.	GGCTGGT	G,*	3997.56	.	AC=1,12;AF=0.026,0.316;AN=38;BaseQRankSum=5.06;DP=8191;ExcessHet=12.7758;FS=8.141;InbreedingCoeff=-0.5094;MLEAC=1,13;MLEAF=0.026,0.342;MQ=56.16;MQRankSum=-1.509e+01;QD=0.72;ReadPosRankSum=-2.317e+00;SOR=1.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:288,0,72:360:99:0|1:195781128_A_T:2157,3023,14899,0,11876,11659:195781128	6	0	1	2
chr3	195781150	195781150	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	17655.6	472	chr3	195781150	.	C	CAT,*	17655.6	.	AC=12,1;AF=0.300,0.025;AN=40;BaseQRankSum=6.87;DP=8110;ExcessHet=11.8493;FS=8.427;InbreedingCoeff=-0.4911;MLEAC=13,1;MLEAF=0.325,0.025;MQ=57.14;MQRankSum=-1.618e+01;QD=3.26;ReadPosRankSum=-2.268e+00;SOR=1.431	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:283,68,0:351:99:0|1:195781128_A_T:1986,0,11461,2838,11666,14504:195781128	7	0	12	1
chr3	195781237	195781237	G	0	exonic	MUC4	.	.	.	.	.	457	758	281	0	26	307	0.156372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	57049.74	510	chr3	195781237	.	G	GAGGAAGGGCTGGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATGCTA,*	57049.74	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=-8.550e-01;DP=9994;ExcessHet=6.1794;FS=2.732;InbreedingCoeff=-0.3292;MLEAC=13,1;MLEAF=0.325,0.025;MQ=57.80;MQRankSum=-1.148e+01;QD=9.95;ReadPosRankSum=-6.049e+00;SOR=0.922	GT:AD:DP:GQ:PL	0/1:224,187,0:411:99:6823,0,8343,7504,8905,16409	7	0	12	1
chr3	195781535	195781582	CGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.9998_10045del:p.S3333_D3349delinsN	.	.	432	1084	3	0	3	6	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0005	0	0.0037	0	0.0017	0	0.0003	.	.	.	rs773375978	4.072e-05	0.0059	4.243e-05	3.896e-05	0.0003	3.176e-05	2.88e-05	2.611e-05	2.317e-05	0	3.061e-05	0.0002	9.239e-05	0.0001	0.0003	3.566e-05	5.609e-05	0	0.0005	0.0035	0.0005	0.0005	0.0015	0.0004	0.0004	0.0007	0.0005	0.0002	0	0.0008	0.0009	0.0015	0.0006	0	0.0005	0.0016	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	5407.27	461	chr3	195781534	.	TCGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC	T	5407.27	.	AC=5;AF=0.125;AN=40;BaseQRankSum=3.69;DP=9800;ExcessHet=1.2264;FS=4.369;InbreedingCoeff=-0.1429;MLEAC=5;MLEAF=0.125;MQ=56.16;MQRankSum=-7.992e+00;QD=1.81;ReadPosRankSum=-4.233e+00;SOR=1.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:311,53:364:99:0|1:195781522_A_G:1070,0,12537:195781522	15	0	5	1
chr3	195781543	195781543	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C10037T:p.P3346L	.	.	434	1074	8	0	6	14	0.00371058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.972	D	.	.	0.977	N	0.55	N	1.53	T	-1.037	T	0.086	T	0.191	0.535	6.897	1.03	0.494	0.798	7.588	0.036	.	.	0.00698882	0.0008	0	0	0	0	0.0008	0	0.0012	0.0013447	35	26028	rs879761890	4.884e-05	0.0007	4.984e-05	4.781e-05	0.0004	3.831e-05	3.503e-05	0.0002	0.0002	0.0002	0	0.0001	0.0004	0	0	2.839e-05	0.0002	4.234e-05	0.0002	0.0010	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0001	0.0003	0.0011	0.0001	0.0009	0	0	0	0.0002	0	0.0002	0.665	0.31383	T	0.122	0.35840	T	.	.	.	.	.	.	.	.	.	.	1	0.25345	N	.	.	.	1.47	0.31987	T	-1.13	0.29933	N	0.131	0.12627	-1.0370	0.18233	T	0.086	0.33522	T	8	0.0051679015	0.00112	T	.	.	.	0.036	0.09122	.	.	0.218845423259	0.21516	0.0020738489350019015	0.00192	.	.	0.483528077602	0.36542	T	.	.	.	-0.243883	0.14857	T	-0.588097	0.13831	T	0.0705799747923548	0.08732	T	0.69863	0.30863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.17657	B	.;.	.;.	1.897897	0.24102	16.27	0.74117152090629812	0.10576	0.00893	0.03509	N	AEFBI	0.071891	0.14328	N	-0.569821765808249	0.19867	1.043086	-0.822359589483566	0.13954	0.726643	3.68951057704334E-5	0.03775	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.03	1.03	0.19161	0.680000	0.24986	0.730000	0.21079	0.093000	0.17603	0.024000	0.20007	0.004000	0.18990	0.012000	0.09680	0.0:0.0:1.0:0.0	7.588	0.27174	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.1579	471.15	461	chr3	195781543	.	G	A,*	471.15	.	AC=1,5;AF=0.026,0.132;AN=38;BaseQRankSum=4.39;DP=9702;ExcessHet=1.8958;FS=7.620;InbreedingCoeff=-0.1940;MLEAC=1,5;MLEAF=0.026,0.132;MQ=59.22;MQRankSum=-1.633e+01;QD=0.13;ReadPosRankSum=-4.132e+00;SOR=1.560	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:311,0,53:364:99:0|1:195781522_A_G:1070,2005,14701,0,12696,12537:195781522	13	0	1	2
chr3	195781543	195781543	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	471.15	461	chr3	195781543	.	G	A,*	471.15	.	AC=1,5;AF=0.026,0.132;AN=38;BaseQRankSum=4.39;DP=9702;ExcessHet=1.8958;FS=7.620;InbreedingCoeff=-0.1940;MLEAC=1,5;MLEAF=0.026,0.132;MQ=59.22;MQRankSum=-1.633e+01;QD=0.13;ReadPosRankSum=-4.132e+00;SOR=1.560	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:311,0,53:364:99:0|1:195781522_A_G:1070,2005,14701,0,12696,12537:195781522	13	0	1	2
chr3	195781545	195781545	C	0	exonic	MUC4	.	.	.	.	.	447	984	72	8	11	99	0.0428016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	214.85	461	chr3	195781545	.	C	*,A	214.85	.	AC=5,2;AF=0.132,0.053;AN=38;BaseQRankSum=0.229;DP=9525;ExcessHet=2.7391;FS=7.747;InbreedingCoeff=-0.2163;MLEAC=5,1;MLEAF=0.132,0.026;MQ=58.15;MQRankSum=-1.237e+01;QD=0.06;ReadPosRankSum=-2.465e+00;SOR=1.629	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:251,46,4:301:99:0|1:195781545_C_*:1061,0,10332,1662,10202,12093:195781545	12	0	5	2
chr3	195781547	195781547	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	199.21	461	chr3	195781547	.	C	G,*	199.21	.	AC=2,5;AF=0.056,0.139;AN=36;BaseQRankSum=-4.040e-01;DP=9369;ExcessHet=2.7391;FS=9.360;InbreedingCoeff=-0.2500;MLEAC=2,6;MLEAF=0.056,0.167;MQ=57.24;MQRankSum=-1.314e+01;QD=0.06;ReadPosRankSum=-4.481e+00;SOR=1.583	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:236,4,46:286:99:0|1:195781545_C_*:1106,1662,11641,0,9742,9771:195781545	11	0	2	3
chr3	195781570	195781666	GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	0	exonic	MUC4	.	.	.	.	.	441	758	314	1	8	324	0.172489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	16107.51	556	chr3	195781570	.	GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	G,*	16107.51	.	AC=11,2;AF=0.306,0.056;AN=36;BaseQRankSum=2.83;DP=10262;ExcessHet=5.0857;FS=9.641;InbreedingCoeff=-0.3187;MLEAC=12,2;MLEAF=0.333,0.056;MQ=55.78;MQRankSum=-1.803e+00;QD=2.85;ReadPosRankSum=-4.685e+00;SOR=1.416	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:4,124,46:174:99:0|1:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:6686,1538,1286,5031,0,7159:195781570	6	0	10	3
chr3	195781580	195781580	G	0	exonic	MUC4	.	.	.	.	.	463	722	319	1	17	338	0.18187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	4520.74	556	chr3	195781580	.	G	*,C	4520.74	.	AC=12,1;AF=0.333,0.028;AN=36;BaseQRankSum=0.179;DP=9815;ExcessHet=5.0857;FS=8.513;InbreedingCoeff=-0.3187;MLEAC=13,1;MLEAF=0.361,0.028;MQ=56.01;MQRankSum=-2.278e+00;QD=0.86;ReadPosRankSum=-1.693e+00;SOR=1.267	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,170,0:174:99:1|1:195781545_C_*:7426,484,0,7500,568,7934:195781545	6	1	10	3
chr3	195781580	195781580	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C10000G:p.P3334A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	B	0.02	B	.	.	1.000	N	0	N	1.6	T	-1.029	T	0.025	T	0.055	-2.642	0	-0.846	-1.978	-4.124	.	0.002	0.00306801804481	.	.	.	.	.	.	.	.	.	.	.	.	.	rs201933946	2.584e-05	3.087e-05	2.108e-05	3.081e-05	0.0009	1.477e-05	1.088e-05	0.0002	0.0001	0	0	0	0.0009	0	0	1.631e-05	5.502e-05	7.572e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.39	0.10838	T	0.225	0.25670	T	.	.	.	.	.	.	.	.	.	.	1	0.20745	N	.	.	.	1.6	0.29085	T	-0.92	0.25332	N	0.04	0.03613	-1.0294	0.20649	T	0.025	0.10866	T	7	0.049262732	0.04492	T	0.003068	0.06636	T	0.002	0.00045	0.155	0.05858	0.0138822411134	0.00435	7.891078168164878E-4	0.00072	.	.	0.422586500645	0.28193	T	.	.	.	-0.383899	0.02944	T	-0.789221	0.02186	T	0.0408006180140352	0.03836	T	0.581242	0.21054	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.01215	B	.;.	.;.	0.478526	0.08482	5.240	0.48788944872141277	0.04100	0.00070	0.00494	N	AEFBI	0.046739	0.07794	N	-1.9141490975778	0.00321	0.01379166	-2.02320338169732	0.00274	0.01206826	9.80237534810795E-4	0.08079	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.423	-0.846	0.10190	-0.579000	0.05927	-4.712000	0.02021	-2.820000	0.00180	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	.	.	.	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	4520.74	556	chr3	195781580	.	G	*,C	4520.74	.	AC=12,1;AF=0.333,0.028;AN=36;BaseQRankSum=0.179;DP=9815;ExcessHet=5.0857;FS=8.513;InbreedingCoeff=-0.3187;MLEAC=13,1;MLEAF=0.361,0.028;MQ=56.01;MQRankSum=-2.278e+00;QD=0.86;ReadPosRankSum=-1.693e+00;SOR=1.267	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,170,0:174:99:1|1:195781545_C_*:7426,484,0,7500,568,7934:195781545	6	1	10	3
chr3	195781591	195781591	T	0	exonic	MUC4	.	.	.	.	.	449	750	25	2	296	325	0.0189666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	3997.07	404	chr3	195781591	.	T	*,G,A	3997.07	.	AC=10,2,1;AF=0.294,0.059,0.029;AN=34;BaseQRankSum=2.81;DP=8640;ExcessHet=5.0857;FS=10.247;InbreedingCoeff=-0.3523;MLEAC=11,2,1;MLEAF=0.324,0.059,0.029;MQ=55.21;MQRankSum=-4.300e+00;QD=0.78;ReadPosRankSum=-4.302e+00;SOR=1.382	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:1,124,44,0:169:99:1|0:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:6797,1694,1360,5062,0,4980,6800,1734,5109,6843:195781570	5	0	9	4
chr3	195781605	195781605	G	0	exonic	MUC4	.	.	.	.	.	455	789	2	0	276	278	0.00126582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	635.74	381	chr3	195781605	.	G	*,C	635.74	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=5.00;DP=8538;ExcessHet=2.5338;FS=10.499;InbreedingCoeff=-0.2218;MLEAC=12,1;MLEAF=0.353,0.029;MQ=54.42;MQRankSum=-3.177e+00;QD=0.16;ReadPosRankSum=-4.833e+00;SOR=1.436	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:2,124,25:151:99:0|1:195781522_A_G:6030,933,642,5020,0,5037:195781522	7	0	9	4
chr3	195781605	195781605	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9975G:p.H3325Q,	.	.	455	789	2	0	276	278	0.00126582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	B	0.0	B	.	.	1.000	N	0	N	1.64	T	-0.994	T	0.028	T	0.045	0.133	4.714	-1.18	0.494	-0.453	3.491	0.026	0.000701924505054	.	.	0.0038	0.0092	0.0027	0.0065	0.0074	0.0033	0.0060	0.0021	0.0005757	89	154602	rs368202391	0.0002	0.0009	0.0002	0.0002	0.0019	0.0002	0.0002	0.0012	0.0009	0.0005	0.0002	0.0001	0.0019	0.0010	0.0008	0.0002	0.0002	0.0007	0.0015	0.0080	0.0013	0.0018	0.0040	0.0013	0.0013	0.0022	0.0017	0.0008	0	0.0024	0.0027	0.0040	0.0035	0	0.0012	0.0025	0.0038	0.359	0.11957	T	0.549	0.09457	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.64	0.28002	T	-0.58	0.20358	N	0.126	0.14054	-0.9936	0.31670	T	0.028	0.12103	T	8	0.0067867637	0.00154	T	7.02E-4	0.00435	T	0.026	0.05648	0.259	0.20159	0.0138822411134	0.00435	0.0013358041139753607	0.00123	.	.	0.487636059523	0.37111	T	.	.	.	-0.38784	0.02778	T	-0.794882	0.02034	T	0.00525087148980338	0.00057	T	0.549445	0.18903	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.24566	B	.;.	.;.	0.541304	0.09098	5.882	0.71700136203587272	0.09718	0.00069	0.00489	N	AEFBI	0.058666	0.11023	N	-1.28472862471283	0.03858	0.1731374	-1.36847136025834	0.03593	0.1679022	1.34692826708022E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.03	-1.18	0.09122	-0.199000	0.09493	-3.178000	0.02995	-1.076000	0.01581	0.004000	0.16614	0.000000	0.08366	0.003000	0.05239	0.0:0.0:0.5572:0.4428	3.491	0.07201	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	635.74	381	chr3	195781605	.	G	*,C	635.74	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=5.00;DP=8538;ExcessHet=2.5338;FS=10.499;InbreedingCoeff=-0.2218;MLEAC=12,1;MLEAF=0.353,0.029;MQ=54.42;MQRankSum=-3.177e+00;QD=0.16;ReadPosRankSum=-4.833e+00;SOR=1.436	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:2,124,25:151:99:0|1:195781522_A_G:6030,933,642,5020,0,5037:195781522	7	0	9	4
chr3	195781620	195781620	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	317.18	402	chr3	195781620	.	T	*,C	317.18	.	AC=15,3;AF=0.441,0.088;AN=34;BaseQRankSum=0.368;DP=7754;ExcessHet=0.4630;FS=2.515;InbreedingCoeff=0.0667;MLEAC=17,3;MLEAF=0.500,0.088;MQ=54.29;MQRankSum=-9.995e+00;QD=0.07;ReadPosRankSum=-1.613e+00;SOR=0.884	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:1,124,14:139:99:0|1:195781522_A_G:5644,546,215,5062,0,5070:195781522	4	2	8	4
chr3	195781628	195781628	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.725	58454.87	402	chr3	195781628	.	C	T,*	58454.87	.	AC=10,20;AF=0.250,0.500;AN=40;BaseQRankSum=2.39;DP=7718;ExcessHet=6.5132;FS=0.581;InbreedingCoeff=-0.3333;MLEAC=10,21;MLEAF=0.250,0.525;MQ=55.94;MQRankSum=-1.348e+00;QD=8.67;ReadPosRankSum=0.131;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,7,124:131:79:1|1:195781522_A_G:5474,5182,5170,373,79,0:195781522	0	3	3	1
chr3	195781789	195781789	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9791G:p.S3264C	.	.	.	.	.	.	.	.	.	.	.	2825223	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.994	D	0.962	D	.	.	1.000	N	0.345	N	1.35	T	-1.046	T	0.089	T	0.101	0.205	5.105	1.03	0.494	0.294	5.394	0.028	.	.	.	0.0028	0.0335	0.0047	0	0	0.0003	0	0.0002	.	.	.	rs1260213383	0.0004	0.0009	0.0004	0.0003	0.0075	0.0003	0.0003	0.0066	0.0062	0.0075	0.0006	0.0003	9.515e-05	0	0.0026	0.0001	0.0009	1.93e-05	0.0011	0.0056	0.0013	0.0010	0.0037	0.0010	0.0009	0.0031	0.0028	0.0037	0	0.0008	0.0006	0	0	0	0.0001	0.0018	0	0.036	0.43393	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.20152	N	.	.	.	1.35	0.35960	T	-0.52	0.20358	N	0.058	0.03392	-1.0464	0.15418	T	0.089	0.34325	T	8	0.0056270957	0.00125	T	.	.	.	0.028	0.06331	0.229	0.15556	0.0297737177859	0.01360	0.001013548136499485	0.00093	.	.	0.469768941402	0.34648	T	.	.	.	-0.293953	0.09243	T	-0.660019	0.08265	T	0.0111137903727331	0.00162	T	0.822818	0.48291	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.45918	B	.;.	.;.	1.908544	0.24238	16.32	0.59381222538087186	0.06211	0.00993	0.03770	N	AEFBI	0.089943	0.18228	N	-0.609396956545462	0.18661	0.9706224	-0.852740611599318	0.13221	0.6847116	1.65442328437548E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.03	1.03	0.19161	-0.438000	0.06975	0.729000	0.21072	0.093000	0.17603	0.000000	0.06391	0.001000	0.17328	0.005000	0.06747	0.0:0.0:1.0:0.0	5.394	0.15560	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.35	154.67	235	chr3	195781789	.	G	C,*	154.67	.	AC=1,13;AF=0.025,0.325;AN=40;BaseQRankSum=-1.930e+00;DP=3748;ExcessHet=15.6281;FS=2.437;InbreedingCoeff=-0.5385;MLEAC=1,14;MLEAF=0.025,0.350;MQ=46.98;MQRankSum=-3.240e+00;QD=0.05;ReadPosRankSum=-3.910e-01;SOR=0.534	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:55,0,45:100:99:.:.:1481,1646,3878,0,2232,2104	6	0	1	1
chr3	195781789	195781789	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	154.67	235	chr3	195781789	.	G	C,*	154.67	.	AC=1,13;AF=0.025,0.325;AN=40;BaseQRankSum=-1.930e+00;DP=3748;ExcessHet=15.6281;FS=2.437;InbreedingCoeff=-0.5385;MLEAC=1,14;MLEAF=0.025,0.350;MQ=46.98;MQRankSum=-3.240e+00;QD=0.05;ReadPosRankSum=-3.910e-01;SOR=0.534	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:55,0,45:100:99:.:.:1481,1646,3878,0,2232,2104	6	0	1	1
chr3	195781790	195781790	A	0	exonic	MUC4	.	.	.	.	.	585	525	41	5	366	417	0.0463215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	155.03	235	chr3	195781790	.	A	G,*	155.03	.	AC=1,13;AF=0.026,0.342;AN=38;BaseQRankSum=-5.110e-01;DP=3742;ExcessHet=15.6281;FS=2.437;InbreedingCoeff=-0.5686;MLEAC=1,14;MLEAF=0.026,0.368;MQ=46.98;MQRankSum=-3.240e+00;QD=0.05;ReadPosRankSum=-5.390e-01;SOR=0.534	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:55,0,45:100:99:.:.:1481,1646,3878,0,2232,2104	5	0	1	2
chr3	195781809	195781809	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	98.03	235	chr3	195781809	.	T	A,*	98.03	.	AC=1,13;AF=0.026,0.342;AN=38;BaseQRankSum=1.65;DP=3716;ExcessHet=15.6281;FS=2.437;InbreedingCoeff=-0.5686;MLEAC=1,14;MLEAF=0.026,0.368;MQ=39.50;MQRankSum=-7.910e-01;QD=0.03;ReadPosRankSum=-1.770e+00;SOR=0.526	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:55,0,45:100:99:.:.:1481,1646,3878,0,2232,2104	5	0	1	2
chr3	195781829	195781829	C	0	exonic	MUC4	.	.	.	.	.	519	603	37	10	353	410	0.0451306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	1756.67	235	chr3	195781829	.	C	T,*	1756.67	.	AC=1,13;AF=0.025,0.325;AN=40;BaseQRankSum=-5.383e+00;DP=3592;ExcessHet=15.6281;FS=2.445;InbreedingCoeff=-0.5385;MLEAC=1,14;MLEAF=0.025,0.350;MQ=41.70;MQRankSum=-4.776e+00;QD=0.57;ReadPosRankSum=1.90;SOR=0.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:55,0,45:100:99:.:.:1481,1646,3878,0,2232,2104	6	0	1	1
chr3	195782517	195782517	G	0	exonic	MUC4	.	.	.	.	.	464	935	5	4	114	127	0.00690388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2353	782.1	473	chr3	195782517	.	G	A,*	782.1	.	AC=1,7;AF=0.029,0.206;AN=34;BaseQRankSum=2.28;DP=8484;ExcessHet=0.0354;FS=1.107;InbreedingCoeff=0.2407;MLEAC=1,8;MLEAF=0.029,0.235;MQ=52.14;MQRankSum=-7.400e+00;QD=0.36;ReadPosRankSum=3.01;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:379,49,0:428:99:0|1:195782517_G_A:794,0,15707,1921,15741,17643:195782517	11	0	1	4
chr3	195782558	195782558	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3667	57440.95	642	chr3	195782558	.	A	G,*	57440.95	.	AC=9,4;AF=0.300,0.133;AN=30;BaseQRankSum=-2.341e+00;DP=9169;ExcessHet=0.9330;FS=0.571;InbreedingCoeff=0.1246;MLEAC=12,5;MLEAF=0.400,0.167;MQ=56.40;MQRankSum=-5.591e+00;QD=11.79;ReadPosRankSum=1.28;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:49,220,225:494:99:.:.:13553,5677,6814,4342,0,7516	5	1	5	6
chr3	195782572	195782572	A	0	exonic	MUC4	.	.	.	.	.	613	867	19	6	17	48	0.0175637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	4722.96	605	chr3	195782572	.	A	*,G	4722.96	.	AC=4,2;AF=0.182,0.091;AN=22;BaseQRankSum=5.52;DP=8908;ExcessHet=2.2993;FS=0.000;InbreedingCoeff=-0.2408;MLEAC=6,3;MLEAF=0.273,0.136;MQ=55.81;MQRankSum=-1.087e+01;QD=1.68;ReadPosRankSum=-9.100e-01;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:245,225,36:506:99:0|1:195782517_G_A:6675,0,9082,6037,7778,16950:195782517	5	0	4	10
chr3	195782605	195782605	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	11928.07	612	chr3	195782605	.	A	*,AGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAG	11928.07	.	AC=4,3;AF=0.182,0.136;AN=22;BaseQRankSum=-3.569e+00;DP=8646;ExcessHet=0.4362;FS=1.176;InbreedingCoeff=-0.0256;MLEAC=6,5;MLEAF=0.273,0.227;MQ=55.03;MQRankSum=-9.332e+00;QD=5.50;ReadPosRankSum=-3.846e+00;SOR=0.586	GT:AD:DP:GQ:PL	1/2:0,259,151:418:99:14977,7869,14834,7420,0,6734	5	0	3	10
chr3	195783071	195783119	TGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGCGTC	0	exonic	MUC4	.	.	.	.	.	430	1001	39	9	43	100	0.0276833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	7527.28	575	chr3	195783071	.	TGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGCGTC	*,T	7527.28	.	AC=4,2;AF=0.133,0.067;AN=30;BaseQRankSum=-6.540e-01;DP=9679;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.0911;MLEAC=5,3;MLEAF=0.167,0.100;MQ=57.61;MQRankSum=-9.008e+00;QD=2.31;ReadPosRankSum=2.20;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:365,0,39:404:99:0|1:195783071_TGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGCGTC_T:438,1534,16004,0,14470,14341:195783071	9	0	4	6
chr3	195783084	195783084	A	0	exonic	MUC4	.	.	.	.	.	29	112	61	14	10	99	0.284345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	76734.88	472	chr3	195783084	.	A	C,*	76734.88	.	AC=14,3;AF=0.368,0.079;AN=38;BaseQRankSum=-3.116e+00;DP=9201;ExcessHet=0.8299;FS=0.000;InbreedingCoeff=0.0328;MLEAC=15,3;MLEAF=0.395,0.079;MQ=57.96;MQRankSum=-8.050e-01;QD=13.77;ReadPosRankSum=-5.900e-01;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,256,39:295:99:1|0:195783071_TGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGCGTC_T:11822,1527,837,9939,0,9799:195783071	6	2	8	2
chr3	195783093	195783093	A	0	exonic	MUC4	.	.	.	.	.	83	60	55	21	7	104	0.447005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	99636.6	482	chr3	195783093	.	A	G,*	99636.6	.	AC=15,2;AF=0.469,0.063;AN=32;BaseQRankSum=-2.015e+00;DP=8944;ExcessHet=1.9072;FS=0.000;InbreedingCoeff=-0.0323;MLEAC=18,2;MLEAF=0.563,0.063;MQ=58.06;MQRankSum=-9.630e-01;QD=17.76;ReadPosRankSum=0.012;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:1,263,39:303:99:1|0:195783071_TGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGCGTC_T:12045,1494,704,10220,0,10694:195783071	3	2	9	5
chr3	195783456	195783599	GGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.7981_8124del:p.S2661_T2708del,	.	.	589	869	23	27	14	91	0.0424242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0246	0.0067	0.0367	0.0512	0.0233	0.0302	0.0205	0.0203	.	.	.	.	0.0078	0.0085	0.0073	0.0084	0.0160	0.0077	0.0076	0.0125	0.0120	0.0045	0.0137	0.0177	0.0116	0.0067	0.0160	0.0069	0.0107	0.0117	0.0011	0.0014	0.0007	0.0015	0.0043	0.0005	0.0003	0.0006	0.0004	0	0	0	0	0.0043	0	0	0.0016	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2109.73	37	chr3	195783455	.	CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT	C,*	2109.73	.	AC=1,2;AF=0.028,0.056;AN=36;BaseQRankSum=3.04;DP=860;ExcessHet=0.0000;FS=7.159;InbreedingCoeff=0.5173;MLEAC=1,2;MLEAF=0.028,0.056;MQ=46.14;MQRankSum=1.82;QD=12.06;ReadPosRankSum=-4.328e+00;SOR=0.317	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:53,97,0:150:99:.:.:2122,0,1778,2283,1992,4275	16	0	1	3
chr3	195783455	195783599	CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT	0	exonic	MUC4	.	.	.	.	.	589	869	23	27	14	91	0.0424242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2109.73	37	chr3	195783455	.	CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT	C,*	2109.73	.	AC=1,2;AF=0.028,0.056;AN=36;BaseQRankSum=3.04;DP=860;ExcessHet=0.0000;FS=7.159;InbreedingCoeff=0.5173;MLEAC=1,2;MLEAF=0.028,0.056;MQ=46.14;MQRankSum=1.82;QD=12.06;ReadPosRankSum=-4.328e+00;SOR=0.317	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:53,97,0:150:99:.:.:2122,0,1778,2283,1992,4275	16	0	1	3
chr3	195783861	195783861	G	0	exonic	MUC4	.	.	.	.	.	560	460	486	7	9	509	0.352113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4333	81944.7	385	chr3	195783861	.	G	A,*	81944.7	.	AC=12,1;AF=0.400,0.033;AN=30;BaseQRankSum=1.06;DP=8683;ExcessHet=15.1749;FS=1.128;InbreedingCoeff=-0.5646;MLEAC=15,1;MLEAF=0.500,0.033;MQ=54.05;MQRankSum=-8.970e-01;QD=13.98;ReadPosRankSum=0.513;SOR=0.821	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:330,131,0:461:99:0|1:195783836_T_G:4529,0,13355,5522,13857,19379:195783836	2	0	12	6
chr3	195783874	195783874	G	0	exonic	MUC4	.	.	.	.	.	665	374	471	9	3	492	0.395311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	83273.27	394	chr3	195783874	.	G	A,*	83273.27	.	AC=12,1;AF=0.353,0.029;AN=34;BaseQRankSum=-2.313e+00;DP=8997;ExcessHet=13.8672;FS=1.132;InbreedingCoeff=-0.5289;MLEAC=14,1;MLEAF=0.412,0.029;MQ=54.92;MQRankSum=-5.830e-01;QD=13.63;ReadPosRankSum=3.00;SOR=0.792	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:337,127,0:464:99:0|1:195783836_T_G:4407,0,13628,5421,14151,19572:195783836	4	0	12	4
chr3	195783878	195783878	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5278	158236.0	363	chr3	195783878	.	C	A,CGGAAGTGTCGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGA,*,CGGAAGTGTTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGA	158236.0	.	AC=12,7,1,1;AF=0.333,0.194,0.028,0.028;AN=36;BaseQRankSum=1.84;DP=9624;ExcessHet=8.7202;FS=1.793;InbreedingCoeff=-0.4053;MLEAC=13,7,1,1;MLEAF=0.361,0.194,0.028,0.028;MQ=55.02;MQRankSum=-2.778e+00;QD=22.89;ReadPosRankSum=-4.840e-01;SOR=0.836	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:213,196,0,0,0:409:99:.:.:16273,0,7382,14655,8656,22865,14655,8656,22865,22865,14655,8656,22865,22865,22865	1	1	9	3
chr3	195783891	195783891	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	105790.68	446	chr3	195783891	.	G	A,*	105790.68	.	AC=14,1;AF=0.368,0.026;AN=38;BaseQRankSum=-3.408e+00;DP=9538;ExcessHet=18.9861;FS=1.113;InbreedingCoeff=-0.6327;MLEAC=15,1;MLEAF=0.395,0.026;MQ=55.85;MQRankSum=1.36;QD=13.99;ReadPosRankSum=1.52;SOR=0.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:452,216,0:668:99:1|0:195783836_T_G:7479,0,18251,8839,18901,27741:195783836	4	0	14	2
chr3	195783896	195783896	-	AAGAGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGAGGAAGTGTCGGTGACAGA	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.7683_7684insTCTGTCACCGACACTTCCTCAGTATCCACAGGTCATGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAGCATCCACCGGTCACGCCACCCCTCTT:p.L2561_P2562insSVTDTSSVSTGHATPLHVTSPSSASTGHATPL	.	.	442	951	27	0	102	129	0.0139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0034	0.0029	0.0045	0	0	0.0049	0.0090	0.0027	0.0004916	76	154602	.	0.0040	0.0071	0.0039	0.0042	0.0239	0.0039	0.0039	0.0196	0.0180	0.0026	0.0060	0.0070	0	0.0071	0.0239	0.0037	0.0065	0.0041	0.0018	0.0063	0.0021	0.0015	0.0024	0.0016	0.0015	0.0021	0.0020	0.0010	0.0026	0.0024	0.0003	0	0.0015	0	0.0024	0.0012	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	9982.69	409	chr3	195783896	.	G	GAAGAGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGAGGAAGTGTCGGTGACAGA,*	9982.69	.	AC=2,1;AF=0.053,0.026;AN=38;BaseQRankSum=-2.121e+00;DP=9293;ExcessHet=0.3476;FS=2.026;InbreedingCoeff=-0.0959;MLEAC=2,1;MLEAF=0.053,0.026;MQ=55.57;MQRankSum=-7.121e+00;QD=9.97;ReadPosRankSum=-6.922e+00;SOR=0.889	GT:AD:DP:GQ:PL	0/1:451,17,0:468:99:1790,0,18576,2278,18807,24950	16	0	2	2
chr3	195783896	195783896	G	0	exonic	MUC4	.	.	.	.	.	442	951	27	0	102	129	0.0139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	9982.69	409	chr3	195783896	.	G	GAAGAGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGAGGAAGTGTCGGTGACAGA,*	9982.69	.	AC=2,1;AF=0.053,0.026;AN=38;BaseQRankSum=-2.121e+00;DP=9293;ExcessHet=0.3476;FS=2.026;InbreedingCoeff=-0.0959;MLEAC=2,1;MLEAF=0.053,0.026;MQ=55.57;MQRankSum=-7.121e+00;QD=9.97;ReadPosRankSum=-6.922e+00;SOR=0.889	GT:AD:DP:GQ:PL	0/1:451,17,0:468:99:1790,0,18576,2278,18807,24950	16	0	2	2
chr3	195783902	195783902	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	124896.55	459	chr3	195783902	.	A	G,*	124896.55	.	AC=15,1;AF=0.417,0.028;AN=36;BaseQRankSum=-2.830e-01;DP=9618;ExcessHet=25.4433;FS=0.524;InbreedingCoeff=-0.7101;MLEAC=17,1;MLEAF=0.472,0.028;MQ=56.37;MQRankSum=0.323;QD=15.45;ReadPosRankSum=-3.430e-01;SOR=0.640	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:390,220,0:610:99:1|0:195783836_T_G:7977,0,15585,9151,16247,25398:195783836	2	0	15	3
chr3	195784245	195784245	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2788.17	477	chr3	195784245	.	A	G,*	2788.17	.	AC=1,1;AF=0.042,0.042;AN=24;BaseQRankSum=1.65;DP=15335;ExcessHet=0.1190;FS=0.000;InbreedingCoeff=-0.0010;MLEAC=2,2;MLEAF=0.083,0.083;MQ=58.21;MQRankSum=-1.971e+01;QD=1.31;ReadPosRankSum=2.48;SOR=0.678	GT:AD:DP:GQ:PL	0/1:716,137,0:853:99:2798,0,28592,3389,29164,32802	10	0	1	9
chr3	195784260	195784260	C	0	exonic	MUC4	.	.	.	.	.	446	1044	8	0	24	32	0.00381679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	2249.06	800	chr3	195784260	.	C	T,*	2249.06	.	AC=1,1;AF=0.031,0.031;AN=32;BaseQRankSum=4.87;DP=15677;ExcessHet=0.1128;FS=0.000;InbreedingCoeff=-0.1111;MLEAC=1,1;MLEAF=0.031,0.031;MQ=58.04;MQRankSum=-1.876e+01;QD=1.07;ReadPosRankSum=5.00;SOR=0.662	GT:AD:DP:GQ:PL	0/1:716,113,0:829:99:2261,0,18658,3301,20894,29379	14	0	1	5
chr3	195784343	195784343	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C7237G:p.H2413D	.	.	428	1009	55	7	23	92	0.0330618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	B	0.0	B	.	.	1.000	N	0.55	N	1.58	T	-1.007	T	0.036	T	0.101	-0.403	2.114	.	-0.914	-1.963	4.69	0.025	0.00480540183533	.	.	0.0002	0	0	0	0	0.0005	0	0	3.84e-05	1	26028	rs202190300	0.0030	0.0072	0.0028	0.0032	0.0156	0.0029	0.0028	0.0125	0.0114	0.0034	0.0055	0.0056	0	0.0057	0.0156	0.0026	0.0040	0.0037	0.0002	0.0031	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0001	0	0.0003	0.0010	0	0	0	0.0003	0.0006	0	1.0	0.02017	T	0.195	0.28300	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.58	0.29342	T	-0.17	0.09627	N	0.166	0.17553	-1.0072	0.27789	T	0.036	0.15334	T	7	0.046534777	0.03856	T	0.004805	0.12004	T	0.025	0.05312	.	.	0.0138822411134	0.00435	6.529260570088327E-4	0.00060	.	.	0.507045388222	0.39809	T	.	.	.	-0.348596	0.04816	T	-0.738511	0.03953	T	0.0315731556165468	0.02238	T	0.566543	0.20051	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07697	B	.;.	.;.	-0.449607	0.02034	0.183	0.84245075148163384	0.15179	0.00328	0.01715	N	AEFBCI	0.042811	0.06688	N	-1.40519715015048	0.02593	0.1147022	-1.53226286008654	0.02100	0.09610031	1.84639979935336E-5	0.02871	0.447487	0.09398	2	0.546412	0.12157	0	0.49644	0.08281	0	0.613276	0.41899	0	.	.	.	.	.	-3.341000	0.00560	-1.066000	0.06436	-2.392000	0.00297	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	1.0E-4:0.0:0.6456:0.3543	4.69	0.12158	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	10852.67	901	chr3	195784343	.	G	C,GACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTC	10852.67	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-7.630e-01;DP=18490;ExcessHet=0.3300;FS=2.986;InbreedingCoeff=-0.0825;MLEAC=2,1;MLEAF=0.048,0.024;MQ=57.79;MQRankSum=-1.200e+01;QD=8.33;ReadPosRankSum=-9.950e-01;SOR=1.265	GT:AD:DP:GQ:PL	0/1:385,26,0:411:99:2757,0,29698,386,13129,16003	18	0	2	0
chr3	195784652	195784652	C	0	exonic	MUC4	.	.	.	.	.	842	358	133	132	57	454	0.356694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5294	123606.13	363	chr3	195784652	.	C	G,*	123606.13	.	AC=16,4;AF=0.471,0.118;AN=34;BaseQRankSum=1.37;DP=11220;ExcessHet=2.7716;FS=0.566;InbreedingCoeff=-0.1110;MLEAC=19,5;MLEAF=0.559,0.147;MQ=55.09;MQRankSum=-1.168e+01;QD=15.32;ReadPosRankSum=-3.180e-01;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,445,0:446:99:.:.:25530,1875,0,23450,1621,23215	2	3	8	4
chr3	195784654	195784654	T	0	exonic	MUC4	.	.	.	.	.	811	382	134	136	59	465	0.347009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	117318.88	370	chr3	195784654	.	T	C,*	117318.88	.	AC=16,3;AF=0.471,0.088;AN=34;BaseQRankSum=1.41;DP=11323;ExcessHet=1.4183;FS=0.000;InbreedingCoeff=-0.0051;MLEAC=19,4;MLEAF=0.559,0.118;MQ=54.70;MQRankSum=-1.241e+01;QD=16.09;ReadPosRankSum=-3.410e-01;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,445,0:445:99:1|1:195784654_T_C:19366,1351,0,15470,1599,16463:195784654	3	3	8	4
chr3	195784655	195784655	C	0	exonic	MUC4	.	.	.	.	.	812	379	133	136	62	467	0.348237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4706	108863.73	369	chr3	195784655	.	C	*,T	108863.73	.	AC=4,15;AF=0.118,0.441;AN=34;BaseQRankSum=2.58;DP=11307;ExcessHet=1.4183;FS=0.000;InbreedingCoeff=-0.0051;MLEAC=5,17;MLEAF=0.147,0.500;MQ=54.71;MQRankSum=-1.230e+01;QD=14.80;ReadPosRankSum=-4.320e-01;SOR=0.673	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,164,222:386:99:0|1:195784654_T_C:24229,9533,11985,6161,0,4805:195784654	3	0	1	4
chr3	195784719	195784719	A	0	exonic	MUC4	.	.	.	.	.	956	119	187	211	49	658	0.719008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6333	181902.03	501	chr3	195784719	.	A	G,*	181902.03	.	AC=18,3;AF=0.600,0.100;AN=30;BaseQRankSum=-5.120e-01;DP=14927;ExcessHet=7.4688;FS=0.000;InbreedingCoeff=-0.1407;MLEAC=23,4;MLEAF=0.767,0.133;MQ=57.00;MQRankSum=-5.969e+00;QD=19.43;ReadPosRankSum=-2.732e+00;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,764,0:764:99:.:.:31040,2411,0,31033,2411,31030	0	4	8	6
chr3	195785315	195785315	-	GAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.6264_6265insGTGTCCACAGGTCACGCCACGCCTCTTCCTGTCACCGACGCTTCCTC:p.I2089Vfs*931	.	.	542	16	26	927	11	1891	0.983264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.337e-05	0	0	0	0.0005	7.837e-05	0	0	1.29e-05	2	154602	rs751858617	0.0001	0.0010	0.0001	0.0002	0.0009	0.0001	0.0001	0.0006	0.0006	0.0009	8.604e-05	0	2.823e-05	0.0005	0.0002	9.85e-05	0.0002	7.712e-05	0.0004	0.0010	0.0004	0.0004	0.0009	0.0003	0.0003	0.0007	0.0006	0.0009	0	7.172e-05	0	0	0.0001	0	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	501656.58	740	chr3	195785315	.	T	C,TGAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	501656.58	.	AC=40,2;AF=0.952,0.048;AN=42;BaseQRankSum=1.87;DP=15694;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,2;MLEAF=0.952,0.048;MQ=57.82;MQRankSum=-3.320e-01;QD=34.25;ReadPosRankSum=-4.420e-01;SOR=0.107	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,696,0:696:99:.:.:24784,2088,0,24784,2088,24784	0	19	0	0
chr3	195785374	195785374	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8571	431121.8	754	chr3	195785374	.	T	C,*	431121.8	.	AC=36,1;AF=0.857,0.024;AN=42;BaseQRankSum=1.92;DP=14531;ExcessHet=1.1607;FS=1.262;InbreedingCoeff=-0.1351;MLEAC=36,1;MLEAF=0.857,0.024;MQ=56.84;MQRankSum=-6.000e-01;QD=31.27;ReadPosRankSum=1.39;SOR=0.348	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:2,709,0:711:99:.:.:25172,2099,0,25177,2128,25206	0	15	5	0
chr3	195787238	195787238	C	0	exonic	MUC4	.	.	.	.	.	932	298	197	67	28	359	0.357066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	3246.35	24	chr3	195787238	.	C	A,*	3246.35	.	AC=16,3;AF=0.421,0.079;AN=38;BaseQRankSum=1.49;DP=300;ExcessHet=2.6629;FS=47.055;InbreedingCoeff=-0.1962;MLEAC=18,3;MLEAF=0.474,0.079;MQ=37.84;MQRankSum=1.47;QD=13.47;ReadPosRankSum=-3.110e-01;SOR=1.282	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:2,0,6:8:60:0|1:195787233_TGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC_T:246,252,331,0,79,60:195787233	4	2	10	2
chr3	195787273	195787273	T	0	exonic	MUC4	.	.	.	.	.	903	371	151	74	23	322	0.287224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	2873.59	19	chr3	195787273	.	T	*,C	2873.59	.	AC=4,15;AF=0.100,0.375;AN=40;BaseQRankSum=-3.190e-01;DP=324;ExcessHet=0.7352;FS=61.659;InbreedingCoeff=-0.0399;MLEAC=5,17;MLEAF=0.125,0.425;MQ=37.78;MQRankSum=1.27;QD=11.54;ReadPosRankSum=-6.730e-01;SOR=0.049	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,6,1:7:24:.:.:289,39,24,252,0,249	6	0	1	1
chr3	195787579	195787579	G	0	exonic	MUC4	.	.	.	.	.	46	100	18	19	43	99	0.21875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5357	1237.73	147	chr3	195787579	.	G	A,*	1237.73	.	AC=2,13;AF=0.071,0.464;AN=28;DP=1766;ExcessHet=0.0393;FS=10.568;InbreedingCoeff=0.2243;MLEAC=3,17;MLEAF=0.107,0.607;MQ=51.08;QD=1.06;SOR=1.344	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:1,0,43:44:99:1|1:195787508_T_C:1926,1929,1935,123,129,0:195787508	4	1	0	7
chr3	195787584	195787584	A	0	exonic	MUC4	.	.	.	.	.	854	418	49	62	139	312	0.171457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5769	923.51	147	chr3	195787584	.	A	G,*	923.51	.	AC=2,13;AF=0.077,0.500;AN=26;DP=1759;ExcessHet=0.0610;FS=9.265;InbreedingCoeff=0.2100;MLEAC=3,18;MLEAF=0.115,0.692;MQ=48.44;QD=0.79;SOR=1.346	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:1,0,43:44:99:1|1:195787508_T_C:1926,1929,1935,123,129,0:195787508	3	1	0	8
chr3	195787599	195787601	CAT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3979_3981del:p.M1327del	.	.	748	628	1	6	139	152	0.0102443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1355836000	0.0028	0.0097	0.0026	0.0030	0.0064	0.0027	0.0026	0.0058	0.0056	0.0041	0.0014	0.0050	0.0059	0.0033	0.0007	0.0022	0.0031	0.0064	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	291.59	147	chr3	195787598	.	GCAT	G,*	291.59	.	AC=2,13;AF=0.067,0.433;AN=30;DP=1745;ExcessHet=0.0261;FS=9.236;InbreedingCoeff=0.2448;MLEAC=2,17;MLEAF=0.067,0.567;MQ=43.03;QD=0.25;SOR=1.314	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:1,0,43:44:99:1|1:195787508_T_C:1926,1929,1935,123,129,0:195787508	5	1	0	6
chr3	195787598	195787601	GCAT	0	exonic	MUC4	.	.	.	.	.	748	628	1	6	139	152	0.0102443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	291.59	147	chr3	195787598	.	GCAT	G,*	291.59	.	AC=2,13;AF=0.067,0.433;AN=30;DP=1745;ExcessHet=0.0261;FS=9.236;InbreedingCoeff=0.2448;MLEAC=2,17;MLEAF=0.067,0.567;MQ=43.03;QD=0.25;SOR=1.314	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:1,0,43:44:99:1|1:195787508_T_C:1926,1929,1935,123,129,0:195787508	5	1	0	6
chr3	195787858	195787905	GCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3675_3722del:p.D1228_T1243del	.	.	845	542	82	39	14	174	0.128617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0016	8.86e-05	0.0001	0.0002	8.685e-05	7.777e-05	7.503e-05	6.47e-05	0.0002	0.0001	0.0002	0.0001	0.0002	0	0.0001	0.0002	2.234e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	3048.65	24	chr3	195787857	.	TGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	T,AGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	3048.65	.	AC=2,12;AF=0.059,0.353;AN=34;BaseQRankSum=1.44;DP=324;ExcessHet=0.6984;FS=37.858;InbreedingCoeff=0.0268;MLEAC=2,14;MLEAF=0.059,0.412;MQ=36.04;MQRankSum=0.122;QD=17.13;ReadPosRankSum=0.506;SOR=4.512	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,4:4:12:1|1:195787857_T_A:180,180,180,12,12,0:195787857	6	0	1	4
chr3	195787862	195787862	C	0	exonic	MUC4	.	.	.	.	.	915	430	100	76	1	253	0.226619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4667	2681.94	24	chr3	195787862	.	C	A,*	2681.94	.	AC=13,2;AF=0.433,0.067;AN=30;BaseQRankSum=-2.400e-01;DP=304;ExcessHet=0.3122;FS=39.025;InbreedingCoeff=0.0321;MLEAC=16,3;MLEAF=0.533,0.100;MQ=35.60;MQRankSum=-7.000e-02;QD=16.16;ReadPosRankSum=0.623;SOR=4.592	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,4,0:4:12:1|1:195787857_T_A:180,12,0,180,12,180:195787857	4	3	6	6
chr3	195787897	195787897	T	0	exonic	MUC4	.	.	.	.	.	830	484	108	98	2	306	0.238994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	4090.56	24	chr3	195787897	.	T	*,C	4090.56	.	AC=2,16;AF=0.059,0.471;AN=34;BaseQRankSum=-3.270e-01;DP=455;ExcessHet=0.3330;FS=31.908;InbreedingCoeff=0.0493;MLEAC=2,18;MLEAF=0.059,0.529;MQ=36.91;MQRankSum=-3.460e-01;QD=16.17;ReadPosRankSum=0.153;SOR=4.157	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,7:7:21:1|1:195787857_T_A:292,292,292,21,21,0:195787857	4	0	1	4
chr3	195788132	195788132	T	0	exonic	MUC4	.	.	.	.	.	595	698	124	3	102	232	0.08519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	6578.57	769	chr3	195788132	.	T	C,*	6578.57	.	AC=7,3;AF=0.219,0.094;AN=32;BaseQRankSum=4.36;DP=5689;ExcessHet=7.5380;FS=5.019;InbreedingCoeff=-0.3295;MLEAC=9,4;MLEAF=0.281,0.125;MQ=54.21;MQRankSum=-8.605e+00;QD=1.86;ReadPosRankSum=1.06;SOR=1.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:614,0,153:767:99:0|1:195788077_G_A:3177,5023,30174,0,25151,24747:195788077	6	0	7	5
chr3	195788137	195788137	C	0	exonic	MUC4	.	.	.	.	.	502	872	56	8	84	156	0.0396476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1538	1689.47	769	chr3	195788137	.	C	*,G	1689.47	.	AC=3,2;AF=0.115,0.077;AN=26;BaseQRankSum=1.29;DP=5207;ExcessHet=0.0568;FS=3.338;InbreedingCoeff=0.0920;MLEAC=4,3;MLEAF=0.154,0.115;MQ=52.67;MQRankSum=3.15;QD=0.89;ReadPosRankSum=0.759;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:2,145,52:199:99:.:.:6400,1576,2037,4892,0,4782	9	0	2	8
chr3	196508180	196508180	C	T	exonic	SMCO1	.	nonsynonymous SNV	SMCO1:NM_001077657:exon3:c.G352A:p.V118I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	.	.	1.000	N	-0.625	N	1.64	T	-0.978	T	0.024	T	0.096	-0.684	1.025	-0.038	-0.239	-0.651	8.348	0.019	0.00516792365247	.	.	4.14e-05	0	0	0	0	4.495e-05	0	0.0001	3.88e-05	6	154602	rs753888428	3.762e-05	3.762e-05	3.675e-05	3.85e-05	0.0002	2.959e-05	2.655e-05	9.75e-05	6.95e-05	0.0002	0	0	2.519e-05	3.744e-05	0.0002	2.788e-05	4.967e-05	0.0001	7.886e-05	7.88e-05	5.139e-05	0.0001	7.349e-05	4.497e-05	3.513e-05	2.846e-05	1.858e-05	4.826e-05	0	6.549e-05	0	0	0.0003	0	7.349e-05	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999735	0.20548	N	-1.255	0.00759	N	1.64	0.27822	T	0.6	0.02518	N	0.093	0.07262	-0.9781	0.35435	T	0.024	0.10058	T	9	0.017122835	0.00364	T	0.005168	0.13156	T	0.019	0.03383	0.156	0.05964	0.0401082797425	0.02173	0.02746058571569705	0.02696	0.179331777554	0.20176	.	.	.	0.001863	0.01280	T	-0.477075	0.00770	T	-0.741534	0.03826	T	0.0114550638215996	0.00172	T	0.379762	0.09155	T	0.022508953	0.00919	0.052838717	0.08786	0.022508953	0.00919	0.052838717	0.08785	-3.64	0.18437	T	.	.	0.056	0.00505	B	.	.	-1.173510	0.00558	0.013	0.68934550315838006	0.08812	0.00580	0.02616	N	AEFBI	0.029558	0.02811	N	-1.29323237480109	0.03756	0.168353	-1.15292777822022	0.06716	0.3241799	0.99958126067677	0.40607	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	-0.0385	0.13208	-0.652000	0.05465	-2.361000	0.03851	-0.126000	0.13398	0.000000	0.06391	0.000000	0.08366	0.471000	0.28363	0.0:0.3453:0.0:0.6547	8.348	0.31450	824	0.40336	.	.	.	.	.	.	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	0.02381	2780.98	36	chr3	196508180	.	C	T	2780.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.11;DP=900;ExcessHet=0.0000;FS=1.783;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=0.775;SOR=0.554	GT:AD:DP:GQ:PL	0/1:102,103:205:99:2795,0,2324	20	0	1	0
chr3	197681306	197681306	G	C	exonic	RUBCN	.	nonsynonymous SNV	RUBCN:NM_014687:exon16:c.C2253G:p.H751Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.735	H	.	.	0.337	D	0.531	D	0.771	3.637	18.50	-8.09	-1.223	-1.625	15.588	0.446	0.129816234728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.000000	0.999223	0.46379	D	3.56	0.93364	H	.	.	.	-7.67	0.95542	D	0.702	0.70615	0.337	0.88140	D	0.531	0.82607	D	9	0.9448689	0.93811	D	0.129816	0.81191	D	0.607	0.84559	0.84	0.94602	0.215109475489	0.21095	0.9220348752549467	0.92180	1.12822586205	0.78511	0.708673357964	0.68401	T	0.43157	0.77964	T	0.183789	0.72391	D	0.0262231	0.72032	D	0.997006595134735	0.90554	D	0.950305	0.81406	D	0.92434514	0.93673	0.85907114	0.92116	0.92434514	0.93674	0.85907114	0.92116	-15.299	0.96515	D	.	.	0.993	0.95832	P	.;.	.;.	0.077222	0.04842	1.439	0.9905971034995763	0.51459	0.20519	0.21071	N	AEFDBHCI	0.139095	0.26059	N	-0.594740207269827	0.19104	0.9972066	-0.811127481019648	0.14226	0.7422378	0.999835742168422	0.43792	0.67177	0.52595	0	0.702456	0.74545	0	0.779548	0.98927	0	0.635551	0.53088	0	.	.	4.95	-8.09	0.00961	-1.600000	0.02186	-4.642000	0.02055	-1.539000	0.00983	0.000000	0.06391	0.000000	0.08366	0.954000	0.50415	0.4367:0.0:0.5633:0.0	15.588	0.76243	764	0.49969	.;Putative zinc-RING and/or ribbon|Putative zinc-RING and/or ribbon	.	.	.	.	.	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	0.02381	1617.98	35	chr3	197681306	.	G	C	1617.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.819e+00;DP=808;ExcessHet=0.0000;FS=6.019;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.07;ReadPosRankSum=0.111;SOR=0.335	GT:AD:DP:GQ:PL	0/1:47,68:115:99:1632,0,1214	20	0	1	0
chr3	197889703	197889703	C	T	exonic	IQCG	.	stopgain	IQCG:NM_001134435:exon11:c.G1209A:p.W403X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	6.447	37	5.21	2.881	5.061	18.967	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	7.525e-06	7.524e-06	1.089e-05	4.125e-06	9.892e-06	4.04e-06	2.95e-06	5.31e-06	3.88e-06	0	0	0	0	0	0	9.892e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.254	0.28849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607496	0.97860	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	10.313150	0.99690	46	0.99677000735091126	0.78977	0.95587	0.65318	D	AEFDBI	0.063357	0.12237	N	0.905321614779977	0.92018	11.18859	0.784242223949771	0.88676	9.672697	0.99999999997174	0.74766	0.566229	0.32551	0	0.633656	0.55848	0	0.338622	0.05889	2	0.674467	0.66132	0	.	.	5.21	5.21	0.72005	5.043000	0.64012	7.581000	0.60964	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	18.967	0.92676	895	0.25842	IQ motif, EF-hand binding site|IQ motif, EF-hand binding site;IQ motif, EF-hand binding site|IQ motif, EF-hand binding site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2287.98	33	chr3	197889703	.	C	T	2287.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.410e-01;DP=863;ExcessHet=0.0000;FS=0.603;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.54;ReadPosRankSum=-2.251e+00;SOR=0.763	GT:AD:DP:GQ:PL	0/1:78,91:169:99:2302,0,1914	20	0	1	0
chr4	2596279	2596279	C	T	exonic	FAM193A	.	nonsynonymous SNV	FAM193A:NM_001366316:exon2:c.C280T:p.R94C	.	.	482	1039	1	0	0	1	0.000481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0019	0	0	0	0	0.0008	0	0.0026	0.0004722	73	154602	rs565661033	0.0018	0.0016	0.0019	0.0018	0.0026	0.0018	0.0017	0.0024	0.0024	0.0005	0.0003	9.985e-05	0	0.0009	0	0.0026	0.0015	0.0016	0.0014	0.0014	0.0015	0.0013	0.0023	0.0012	0.0012	0.0020	0.0019	0.0004	0.0121	0.0005	0	0	0.0008	0.0034	0.0023	0.0024	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012891263	0.00275	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.824508428574	0.85721	D	.	.	.	.	.	.	.	.	.	.	.	.	0.957071	0.83814	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.60988	A	.	.	5.045990	0.84013	28.2	0.84919650053503104	0.15576	0.96794	0.70974	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999998611077249	0.74766	0.156188	0.03335	0	0.082207	0.02014	0	0.090035	0.02915	2	0.221052	0.04502	0	0.279683	0.34040	5.59	4.74	0.59717	1.970000	0.40144	2.091000	0.30548	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.2722:0.7278:0.0:0.0	14.098	0.64564	652	0.62785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	80.06	16	chr4	2596279	.	C	T	80.06	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.64;DP=218;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0298;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.01;ReadPosRankSum=0.210;SOR=0.223	GT:AD:DP:GQ:PL	0/1:7,3:10:94:94,0,211	20	0	1	0
chr4	3074882	3074882	-	CAGCAGCAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAGCAGCAG:p.Q38_P39insQQQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	3/4:0,0,0,20,19,0,0:39:99:.:.:1284,1341,1454,1341,1454,1454,659,751,751,760,698,759,759,0,741,1341,1454,1454,751,759,1454,1341,1454,1454,751,759,1454,1454	3	1	1	0
chr4	3074880	3074882	CAG	-	exonic	HTT	.	nonframeshift deletion	HTT:NM_002111:exon1:c.55_57del:p.Q38del,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	3/4:0,0,0,20,19,0,0:39:99:.:.:1284,1341,1454,1341,1454,1454,659,751,751,760,698,759,759,0,741,1341,1454,1454,751,759,1454,1341,1454,1454,751,759,1454,1454	3	1	1	0
chr4	3074882	3074882	-	CAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAG:p.Q38_P39insQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	3/4:0,0,0,20,19,0,0:39:99:.:.:1284,1341,1454,1341,1454,1454,659,751,751,760,698,759,759,0,741,1341,1454,1454,751,759,1454,1341,1454,1454,751,759,1454,1454	3	1	1	0
chr4	3074882	3074882	-	CAGCAGCAGCAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAGCAGCAGCAG:p.Q38_P39insQQQQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	3/4:0,0,0,20,19,0,0:39:99:.:.:1284,1341,1454,1341,1454,1454,659,751,751,760,698,759,759,0,741,1341,1454,1454,751,759,1454,1341,1454,1454,751,759,1454,1454	3	1	1	0
chr4	3074882	3074882	-	CAGCAGCAGCAGCAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAGCAGCAGCAGCAG:p.Q38_P39insQQQQQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	3/4:0,0,0,20,19,0,0:39:99:.:.:1284,1341,1454,1341,1454,1454,659,751,751,760,698,759,759,0,741,1341,1454,1454,751,759,1454,1341,1454,1454,751,759,1454,1454	3	1	1	0
chr4	6301953	6301953	A	G	exonic	WFS1	.	nonsynonymous SNV	WFS1:NM_001145853:exon8:c.A2158G:p.I720V	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	.	0	1511	11	0	0	11	0.00362677	.	.	141622	not_specified|WFS1-Related_Spectrum_Disorders|Diabetes_mellitus|Wolfram_syndrome_1|Wolfram-like_syndrome|Cataract_41|Autosomal_dominant_nonsyndromic_hearing_loss_6|Type_2_diabetes_mellitus|not_provided|Monogenic_diabetes	MedGen:CN169374|MedGen:CN239410|Human_Phenotype_Ontology:HP:0000819,Human_Phenotype_Ontology:HP:0004908,Human_Phenotype_Ontology:HP:0008217,Human_Phenotype_Ontology:HP:0008234,Human_Phenotype_Ontology:HP:0008260,MONDO:MONDO:0005015,MedGen:C0011849|MONDO:MONDO:0009101,MedGen:C4551693,OMIM:222300,Orphanet:3463|MONDO:MONDO:0013673,MedGen:C3280358,OMIM:614296,Orphanet:411590|MONDO:MONDO:0007287,MedGen:C3805412,OMIM:116400,Orphanet:91492,Orphanet:98991,Orphanet:98992,Orphanet:98995|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.3	T	0.004	B	0.014	B	0.000	N	0.740	D	1.5	L	-4.15	D	-0.287	T	0.280	T	0.445	1.481	10.90	0.341	-0.136	3.808	8.843	0.433	.	0.0003	0.014976	0.0074	0.0001	0	0.0599	0.0186	0.0027	0.0219	0.0029	0.0065394	1011	154602	rs1805070	0.0036	0.0036	0.0036	0.0036	0.0698	0.0035	0.0035	0.0676	0.0667	8.962e-05	0.0001	0.0011	0.0698	0.0224	0.0010	0.0006	0.0060	0.0027	0.0045	0.0045	0.0032	0.0059	0.0642	0.0042	0.0041	0.0585	0.0563	9.619e-05	0	0.0003	0.0006	0.0642	0.0203	0	0.0013	0.0038	0.0052	0.201	0.20306	T	0.224	0.25591	T	0.004	0.12183	B	0.014	0.16862	B	0.000003	0.62929	N	0.100429	0.740196	0.33814	D	1.39	0.34934	L	-4.15	0.96798	D	-0.57	0.17210	N	0.186	0.20262	-0.2873	0.75340	T	0.280	0.65149	T	10	0.0034231544	0.00060	T	.	.	.	0.433	0.73879	.	.	0.92911295316	0.92838	0.5829553482745569	0.58224	.	.	0.468299537897	0.34447	T	0.145148	0.48213	T	-0.211243	0.19203	T	-0.0119817	0.69556	D	0.0144258577593717	0.00291	T	0.813919	0.46746	T	0.035162937	0.04086	0.0638598	0.12712	0.04181572	0.06228	0.05910474	0.11036	-3.417	0.15286	T	0.15401895742049693	0.18365	0.068	0.03026	B	.;.	.;.	1.359349	0.17679	13.31	0.96611758788161461	0.30445	0.93496	0.58375	D	AEFDBI	0.494324	0.53017	N	-0.349017230391587	0.27307	1.497231	-0.236204943316298	0.30249	1.701557	0.0881872003004449	0.16054	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.49	0.341	0.15229	3.912000	0.56099	0.906000	0.22588	0.653000	0.53440	1.000000	0.71638	0.453000	0.24963	0.946000	0.48989	0.7098:0.0:0.2902:0.0	8.843	0.34310	970	0.06235	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	2101.98	68	chr4	6301953	.	A	G	2101.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.612e+00;DP=2271;ExcessHet=0.0000;FS=2.428;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.56;ReadPosRankSum=-5.320e-01;SOR=0.580	GT:AD:DP:GQ:PL	0/1:106,93:199:99:2116,0,2805	20	0	1	0
chr4	6576651	6576651	G	A	exonic	MAN2B2	.	nonsynonymous SNV	MAN2B2:NM_001292038:exon2:c.G212A:p.R71Q	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.945	D	0.002	N	0.990	N	2.845	M	1.77	T	-1.027	T	0.105	T	0.307	2.639	14.79	1.67	0.587	1.984	5.624	0.081	0.00180859945428	.	0.00159744	0.0007	0	8.645e-05	0.0090	0	1.507e-05	0	0.0003	0.0006662	103	154602	rs200793789	0.0002	0.0002	0.0002	0.0002	0.0044	0.0002	0.0002	0.0039	0.0036	2.987e-05	6.709e-05	0	0.0044	1.879e-05	0	2.698e-05	0.0011	0.0004	0.0003	0.0003	0.0003	0.0004	0.0066	0.0002	0.0002	0.0048	0.0042	4.81e-05	0	0.0001	0	0.0066	0	0	1.47e-05	0.0005	0.0017	0.008	0.58626	D	0.012	0.63918	D	0.999	0.77913	D	0.945	0.68163	D	0.002380	0.36688	N	0.237913	0.989543	0.24283	N	3.26	0.89945	M	1.77	0.25841	T	-2.57	0.55501	D	0.597	0.61596	-1.0271	0.21396	T	0.105	0.38366	T	10	0.027827084	0.00922	T	0.001809	0.03115	T	0.157	0.40909	.	.	0.341226946553	0.33730	0.6103165071214288	0.60963	0.5857386282	0.54202	0.4026709795	0.25440	T	0.397389	0.75577	T	-0.435445	0.01376	T	-0.39229	0.34284	T	0.148234518622691	0.16962	T	0.933007	0.74900	D	0.31264737	0.54014	0.2783642	0.53796	0.31264737	0.54013	0.2783642	0.53795	-9.874	0.73154	D	.	.	0.111	0.38080	B	.;.	.;.	3.563994	0.50160	22.9	0.9990457603215398	0.97576	0.48481	0.28217	N	AEFDBCI	0.060974	0.11626	N	0.129188396590925	0.47829	3.003143	-0.103899567068048	0.35233	2.035945	0.999971990035211	0.50053	0.706298	0.61202	0	0.643519	0.57511	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	3.89	1.67	0.23149	2.398000	0.44140	2.666000	0.33914	0.676000	0.76740	1.000000	0.71638	0.074000	0.22270	0.106000	0.18562	0.4203:0.0:0.5797:0.0	5.624	0.16750	982	0.03397	Glycoside hydrolase family 38, N-terminal domain;Glycoside hydrolase family 38, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1244.98	33	chr4	6576651	.	G	A	1244.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.250;DP=830;ExcessHet=0.0000;FS=0.740;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=0.766;SOR=0.790	GT:AD:DP:GQ:PL	0/1:47,54:101:99:1259,0,1022	20	0	1	0
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.01	B	0.01	B	0.003	N	0.997	D	1.87	L	.	.	-0.870	T	0.178	T	0.274	3.086	16.31	1.7	0.426	3.325	6.857	0.057	0.00517274981781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049661710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.024	0.56640	D	0.01	0.15535	B	0.01	0.14941	B	0.002610	0.36243	N	0.335799	0.997385	0.43845	D	1.845	0.48678	L	.	.	.	-1.21	0.30762	N	0.255	0.28849	-0.8699	0.50537	T	0.178	0.52350	T	9	0.10915744	0.20352	T	0.005173	0.13156	T	0.057	0.16321	0.471	0.54537	0.0675242888579	0.06100	0.46100661359438516	0.46018	0.236252140533	0.26164	0.507156848907	0.39825	T	0.032907	0.22691	T	-0.0647136	0.42169	T	-0.330733	0.41388	T	0.740678250789642	0.42773	D	0.785921	0.42389	T	0.33447877	0.55835	0.22762217	0.47778	0.33447877	0.55835	0.22762217	0.47777	-4.395	0.29489	T	.	.	0.096	0.18950	B	.;.	.;.	2.849310	0.37614	20.5	0.99790826753695638	0.87661	0.97746	0.76833	D	AEFBI	0.619401	0.60485	D	-0.157216252661344	0.34928	1.999906	-0.0453646344165534	0.37692	2.210343	0.99990703318278	0.45458	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.73	1.7	0.23359	2.683000	0.46609	0.685000	0.20714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0737:0.2877:0.6386	6.857	0.23230	682	0.59757	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	7325.55	151	chr4	6862306	.	T	C	7325.55	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.348e+00;DP=3019;ExcessHet=54.0936;FS=242.021;InbreedingCoeff=-0.9914;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.50;ReadPosRankSum=0.996;SOR=13.535	GT:AD:DP:GQ:PL	0/1:100,40:140:99:439,0,2177	0	0	21	0
chr4	8441412	8441412	C	G	exonic	TRMT44	.	nonsynonymous SNV	TRMT44:NM_152544:exon1:c.C590G:p.T197R,	.	.	427	1009	83	3	0	89	0.0422402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	.	.	.	.	0.122	N	1.000	N	0.55	N	2.2	T	-1.011	T	0.027	T	0.287	0.850	8.439	1.29	0.110	0.256	7.467	0.019	.	.	0.00858626	0.0287	0.0080	0.0065	0.0058	0.0031	0.0195	0.0260	0.0450	0.0037839	585	154602	rs112997829	0.0105	0.0100	0.0098	0.0112	0.0346	0.0104	0.0103	0.0335	0.0331	0.0047	0.0060	0.0151	0.0001	0.0019	0.0304	0.0095	0.0109	0.0346	0.0085	0.0085	0.0080	0.0090	0.0288	0.0081	0.0080	0.0249	0.0234	0.0056	0.0493	0.0099	0.0127	0.0002	0.0012	0.0204	0.0094	0.0118	0.0288	0.447	0.09075	T	0.378	0.16086	T	.	.	.	.	.	.	0.121706	0.02731	N	1.885000	1	0.08975	N	0.955	0.23872	L	2.2	0.18570	T	-1.36	0.33798	N	0.043	0.01577	-1.0113	0.26510	T	0.027	0.11574	T	8	0.002782017	0.00044	T	.	.	.	0.028	0.06331	.	.	.	.	0.3895442264070437	0.38869	0.0237363171192	0.02403	0.470437943935	0.34740	T	0.006277	0.05717	T	-0.596178	0.00154	T	-0.604077	0.12471	T	0.00130142170890971	0.00013	T	0.359464	0.08250	T	0.03544278	0.04172	0.06397814	0.12754	0.03544278	0.04171	0.06397814	0.12754	-4.308	0.28288	T	.	.	0.087	0.11220	B	.	.	0.493478	0.08624	5.396	0.77617184845155829	0.11951	0.02881	0.07661	N	AEFDBCI	0.028691	0.02576	N	-0.716175274960565	0.15567	0.7856458	-0.836457000307403	0.13614	0.7071644	0.999956225536474	0.48110	0.542737	0.22433	0	0.484254	0.07192	0	0.685571	0.62057	0	0.627883	0.49187	0	.	.	4.1	1.29	0.20717	0.469000	0.21779	0.422000	0.18230	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.567:0.3378:0.0952	7.467	0.26500	949	0.11373	.	RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|ACOX3|RP11-774O3.3|RP11-774O3.3	Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Lung|Nerve_Tibial|Pancreas|Pituitary|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid	.	.	rs112997829	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1346.98	36	chr4	8441412	.	C	G	1346.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.331;DP=844;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=1.43;SOR=0.772	GT:AD:DP:GQ:PL	0/1:52,52:104:99:1361,0,1288	20	0	1	0
chr4	8604114	8604114	G	A	exonic	CPZ	.	nonsynonymous SNV	CPZ:NM_003652:exon3:c.G602A:p.S201N	.	.	422	1078	21	1	0	23	0.0105553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.988	D	0.585	P	0.000	D	1.000	D	2.03	M	2.71	T	-1.082	T	0.055	T	0.443	3.144	16.51	3.86	1.973	5.347	15.937	0.102	.	0.0007	0.000599042	0.0016	0.0002	0.0020	0.0002	0	0.0020	0.0119	0.0015	0.0010284	159	154602	rs143281934	0.0012	0.0012	0.0012	0.0012	0.0247	0.0012	0.0011	0.0214	0.0201	0.0008	0.0010	0.0005	2.557e-05	0	0.0247	0.0012	0.0026	0.0009	0.0009	0.0009	0.0009	0.0009	0.0016	0.0008	0.0007	0.0011	0.0010	0.0004	0	0.0016	0.0009	0	0	0.0136	0.0011	0.0052	0.0012	0.146	0.26519	T	0.137	0.36233	T	0.384	0.62325	B	0.175	0.50320	B	0.000000	0.84330	D	0.045184	0.999989	0.81001	D	2.325	0.66631	M	2.71	0.12055	T	-1.73	0.41046	N	0.717	0.77319	-1.0816	0.07041	T	0.055	0.23224	T	10	0.049276263	0.04494	T	.	.	.	0.102	0.29158	.	.	0.12205267543	0.11705	0.7750065254046804	0.77450	0.0119562494759	0.01133	0.662676036358	0.61792	T	0.053015	0.29325	T	-0.401507	0.02263	T	-0.384891	0.35148	T	0.196342617273331	0.20211	T	0.758124	0.38180	T	0.52383	0.68479	0.47627032	0.69653	0.52383	0.68480	0.47627032	0.69654	-9.192	0.68924	D	0.2593065449522952	0.35027	0.317	0.55978	B	.;.;.	.;.;.	3.651758	0.51831	23.2	0.99622072563463493	0.75473	0.81987	0.41287	D	AEFDBHCI	0.784555	0.71520	D	0.293067813208489	0.55797	3.743764	0.311107533820842	0.56190	3.782178	0.999999838434281	0.74766	0.718356	0.82227	0	0.547309	0.14657	0	0.570548	0.19454	0	0.613276	0.41899	0	.	.	3.86	3.86	0.43689	5.780000	0.68607	8.162000	0.76739	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:1.0:0.0	15.937	0.79512	982	0.03397	Peptidase M14, carboxypeptidase A|Metallocarboxypeptidase Z, carboxypeptidase 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	0.04762	2378.11	34	chr4	8604114	.	G	A	2378.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.171;DP=994;ExcessHet=0.1072;FS=3.283;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.32;ReadPosRankSum=1.20;SOR=0.929	GT:AD:DP:GQ:PL	0/1:47,48:95:99:1191,0,1117	19	0	2	0
chr4	8612077	8612077	G	A	exonic	CPZ	.	nonsynonymous SNV	CPZ:NM_003652:exon7:c.G1245A:p.M415I	.	.	.	.	.	.	.	.	.	.	.	3245848	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.26	T	0.905	P	0.495	P	0.000	U	1.000	N	0.49	N	4.03	T	-1.037	T	0.019	T	0.385	0.809	8.252	4.19	2.056	0.369	6.522	0.093	0.00621327799994	7.7e-05	.	8.391e-05	0	0	0	0	0.0002	0	0	6.47e-05	10	154602	rs372498180	4.721e-05	4.72e-05	4.629e-05	4.814e-05	6.957e-05	3.794e-05	3.476e-05	4.092e-05	3.742e-05	0	6.711e-05	0	0	1.878e-05	0	5.216e-05	1.656e-05	6.957e-05	3.289e-05	3.283e-05	3.857e-05	2.693e-05	5.882e-05	1.262e-05	7.99e-06	1.973e-05	1.125e-05	2.417e-05	0	0	0	0	0	0	5.882e-05	0	0	0.375	0.17584	T	0.363	0.29540	T	0.797	0.49920	P	0.495	0.47504	P	0.000260	0.46924	U	0.186485	0.970054	0.26478	N	1.355	0.33814	L	4.03	0.03149	T	-1.41	0.34795	N	0.523	0.56662	-1.0368	0.18295	T	0.019	0.07893	T	10	0.22585219	0.39426	T	0.006213	0.16288	T	0.093	0.26882	0.566	0.68768	0.126345400529	0.12197	0.6772398649524226	0.67662	0.0058838960761	0.00512	0.638489961624	0.58349	T	0.031535	0.22084	T	-0.317133	0.07136	T	-0.488765	0.23519	T	0.112010814249516	0.13630	T	0.868913	0.59601	D	0.3028536	0.53159	0.27214602	0.53122	0.3028536	0.53159	0.27214602	0.53121	-7.344	0.58917	T	0.1422246703628874	0.16066	0.312	0.53951	B	.;.;.	.;.;.	3.781369	0.54376	23.5	0.97640193863092029	0.35074	0.42783	0.26954	N	AEFBCI	0.177074	0.30430	N	-0.0484090459784448	0.39673	2.343442	-0.0287955153054137	0.38419	2.263285	0.675291197919005	0.22419	0.650006	0.45971	0	0.573888	0.26702	0	0.606735	0.37207	0	0.562822	0.20929	0	.	.	4.19	4.19	0.48645	0.413000	0.20869	6.027000	0.52873	0.618000	0.50648	0.994000	0.38300	1.000000	0.68203	0.991000	0.66497	0.1481:0.1646:0.6872:0.0	6.522	0.21476	982	0.03397	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Metallocarboxypeptidase Z, carboxypeptidase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	5139.98	34	chr4	8612077	.	G	A	5139.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.69;DP=1131;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.85;ReadPosRankSum=2.89;SOR=0.699	GT:AD:DP:GQ:PL	0/1:182,218:400:99:5154,0,3201	20	0	1	0
chr4	9211747	9211747	G	C	exonic	USP17L10	.	nonsynonymous SNV	USP17L10:NM_001256852:exon1:c.G1091C:p.S364T,	.	.	1174	336	2	10	0	22	0.0317003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	N	1.000	N	1.315	L	1.44	T	-1.051	T	0.063	T	0.105	1.410	10.65	0.337	0.444	0.791	.	0.081	0.00494424693079	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs767608503	0.0002	0.0082	0.0003	0.0002	0.0078	0.0002	0.0001	0.0034	0.0023	0.0078	0	0	0.0002	0	0.0031	0.0001	0	0.0006	5.137e-05	0.0033	0.0001	0	9.074e-05	0	0	.	.	0	0	0	0	0	0	0	9.074e-05	0	0	0.076	0.34269	T	0.054	0.48855	T	.	.	.	.	.	.	0.028604	0.25577	N	0.364420	1	0.81001	D	1.835	0.48228	L	1.44	0.32722	T	-1.96	0.45404	N	0.159	0.16586	-1.0508	0.14175	T	0.063	0.26244	T	6	0.003203094	0.00054	T	0.004944	0.12442	T	0.081	0.23632	.	.	0.115124310173	0.11017	0.003919566913084639	0.00366	.	.	0.562705755234	0.47649	T	0.008268	0.07601	T	-0.704426	0.00034	T	-0.640815	0.09609	T	0.0273817175275639	0.01599	T	0.671133	0.27986	T	0.13559984	0.31465	0.17054746	0.39172	0.13559984	0.31465	0.17054746	0.39171	-6.914	0.53403	T	.	.	0.119	0.24430	B	.;.	.;.	2.086132	0.26537	17.15	0.96272064017356607	0.29254	0.17629	0.19919	N	AEFI	0.075364	0.15131	N	-0.536111108855572	0.20921	1.106491	-0.696549762316435	0.17046	0.9046486	1.109225597663E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.337	0.337	0.15206	0.028000	0.13533	.	.	-0.732000	0.03721	0.048000	0.21332	0.000000	0.08366	0.226000	0.22626	.	.	.	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1818	81.76	150	chr4	9211747	.	G	C	81.76	.	AC=4;AF=0.182;AN=22;DP=150;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5367;MLEAC=4;MLEAF=0.182;MQ=41.27;QD=20.44;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	9	2	0	10
chr4	9211783	9211783	G	C	exonic	USP17L10	.	nonsynonymous SNV	USP17L10:NM_001256852:exon1:c.G1127C:p.S376T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.850	N	1.000	N	0.295	N	3.35	T	-0.900	T	0.011	T	0.065	-1.181	0.083	0.337	0.444	-0.194	.	0.056	0.0124024376797	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs756141121	2.562e-05	0.0002	3.759e-05	1.565e-05	4.458e-05	6.81e-06	2.89e-06	1.183e-05	6.28e-06	0	0	0	0	0	0	4.458e-05	0	0	0.0001	0.0001	0	0.0002	0.0002	1.774e-05	7.26e-06	3.161e-05	1.305e-05	0	0	0	0	0	0	0	0.0002	0	0	0.805	0.03077	T	0.872	0.04555	T	.	.	.	.	.	.	0.849761	0.08971	N	0.910081	1	0.81001	D	0.44	0.12706	N	3.35	0.05989	T	-0.63	0.18459	N	0.135	0.13198	-0.9004	0.47952	T	0.011	0.04181	T	6	0.0704132	0.10239	T	0.012402	0.30939	T	0.056	0.15993	0.33	0.31519	0.0666544352282	0.05500	0.0059664934757107735	0.00565	.	.	0.598369896412	0.52675	T	0.004958	0.04384	T	-0.390642	0.02665	T	-0.798907	0.01930	T	0.0374626223042551	0.03237	T	0.469153	0.13854	T	0.088377655	0.20615	0.07714865	0.17157	0.088377655	0.20614	0.07714865	0.17157	-2.916	0.09304	T	.	.	0.083	0.08997	B	.;.	.;.	0.327108	0.07015	3.571	0.84254257214202888	0.15185	0.11799	0.16869	N	AEFI	0.061657	0.11802	N	-0.643566182376852	0.17647	0.9098934	-0.754462909669441	0.15613	0.821994	4.41687917960166E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.337	0.337	0.15206	-1.018000	0.03737	.	.	-0.518000	0.04984	0.013000	0.18845	0.000000	0.08366	0.016000	0.10718	.	.	.	.	.	.;.	.	.	.	.	.	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	0.08333	36.48	147	chr4	9211783	.	G	C	36.48	.	AC=2;AF=0.083;AN=24;DP=147;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3279;MLEAC=2;MLEAF=0.083;MQ=40.00;QD=18.24;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	11	1	0	9
chr4	10445589	10445589	T	C	exonic	ZNF518B	.	nonsynonymous SNV	ZNF518B:NM_001375817:exon2:c.A740G:p.N247S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.0	B	0.0	B	0.201	N	1.000	N	0	N	4.92	T	-0.902	T	0.003	T	0.001	-0.601	1.314	-5.2	-0.969	-1.847	10.957	0.018	0.0172550426581	0.0004	.	0.0001	0.0009	0	0	0	1.499e-05	0.0011	0.0001	8.41e-05	13	154602	rs141835884	5.336e-05	5.336e-05	5.717e-05	4.95e-05	0.0005	4.344e-05	4.017e-05	0.0003	0.0003	0.0005	0	0	0	3.747e-05	0	3.957e-05	8.279e-05	0.0001	0.0001	0.0001	0.0002	6.721e-05	0.0003	8.167e-05	6.723e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	8.819e-05	0.0005	0	1.0	0.00964	T	0.804	0.04017	T	0.0	0.02946	B	0.0	0.01387	B	0.200520	0.03316	N	1.718550	1	0.08975	N	-0.44	0.02835	N	4.92	0.01404	T	0.5	0.02945	N	0.018	0.00252	-0.9017	0.47814	T	0.003	0.01026	T	10	0.014219165	0.00299	T	0.017255	0.38885	T	0.018	0.03083	.	.	0.043077524339	0.03247	0.1654196490022211	0.16461	0.0148348681945	0.01408	0.191409409046	0.00251	T	8.94E-4	0.00456	T	-0.661718	0.00061	T	-0.872132	0.00722	T	0.00871194060891867	0.00107	T	0.534247	0.17838	T	0.009438572	0.00002	0.02056652	0.00143	0.009438572	0.00002	0.02056652	0.00143	-2.562	0.06220	T	.	.	0.061	0.01109	B	.	.	-1.826448	0.00148	0.002	0.18652673913574616	0.00596	0.04530	0.10162	N	AEFBCI	0.023610	0.01340	N	-1.7066635036072	0.00818	0.03538125	-1.71084387363074	0.01090	0.04896189	0.819483310481879	0.24498	0.706548	0.73137	0	0.724815	0.89359	0	0.463624	0.06942	0	0.711	0.71501	0	.	.	6.17	-5.2	0.02608	-0.996000	0.03819	-4.419000	0.02166	-0.767000	0.03477	0.000000	0.06391	0.000000	0.08366	0.026000	0.12556	0.0:0.2369:0.1006:0.6626	10.957	0.46577	576	0.70006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2072.98	38	chr4	10445589	.	T	C	2072.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.270e-01;DP=1181;ExcessHet=0.0000;FS=1.799;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=-7.320e-01;SOR=0.830	GT:AD:DP:GQ:PL	0/1:101,84:185:99:2087,0,2684	20	0	1	0
chr4	13614399	13614399	T	C	exonic	BOD1L1	.	nonsynonymous SNV	BOD1L1:NM_148894:exon4:c.A971G:p.K324R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.992	D	0.000	D	0.551	N	2.045	M	2.86	T	-0.986	T	0.079	T	0.171	4.097	21.1	5.45	2.186	2.561	15.464	0.082	0.00735380402915	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1355826672	1.406e-06	2.052e-06	1.392e-06	1.42e-06	9.176e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.176e-07	1.698e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.067	0.44302	T	1.0	0.90584	D	0.992	0.80445	D	0.000228	0.47286	D	0.000000	0.551368	0.31331	N	2.515	0.73286	M	2.86	0.10482	T	-1.18	0.30140	N	0.214	0.23884	-0.9858	0.33639	T	0.079	0.31496	T	10	0.24181888	0.41367	T	0.007354	0.19496	T	0.082	0.23913	0.31	0.28289	0.307950594193	0.30395	0.028999306022489256	0.02848	0.298107270243	0.32188	0.491870820522	0.37698	T	0.02019	0.15942	T	-0.179387	0.23827	T	-0.495454	0.22820	T	0.935526490211487	0.60381	D	0.711729	0.32279	T	0.27239996	0.50309	0.3525207	0.60828	0.27239996	0.50309	0.3525207	0.60827	-5.309	0.40032	T	.	.	0.091	0.13127	B	.	.	3.463984	0.48298	22.6	0.99904595771504012	0.97576	0.84406	0.43488	D	AEFGBI	0.420022	0.48701	N	0.600785261589283	0.73226	5.931419	0.581555243737057	0.73616	6.000053	0.999981642308232	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.45	5.45	0.79688	1.380000	0.33958	6.173000	0.54519	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.464	0.75113	604	0.67577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	811.98	34	chr4	13614399	.	T	C	811.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.800e-01;DP=783;ExcessHet=0.0000;FS=1.912;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.83;ReadPosRankSum=-1.948e+00;SOR=0.808	GT:AD:DP:GQ:PL	0/1:42,33:75:99:826,0,1097	20	0	1	0
chr4	15003927	15003927	-	CCGCAC	exonic	CPEB2	.	nonframeshift insertion	CPEB2:NM_001177381:exon1:c.1254_1255insCCGCAC:p.P420_G682delinsHPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRMDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNARSYGRRRGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	263.94	33	chr4	15003927	.	G	GCCGCAC	263.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=733;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.56;ReadPosRankSum=-3.960e-01;SOR=0.653	GT:AD:DP:GQ:PL	0/1:16,9:25:99:278,0,545	20	0	1	0
chr4	56314535	56314535	A	G	exonic	CRACD	.	nonsynonymous SNV	CRACD:NM_020722:exon8:c.A1033G:p.R345G,	.	.	356	1124	39	3	0	45	0.0196249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.96	D	0.643	P	.	.	1.000	N	0.695	N	4.52	T	-0.885	T	0.005	T	0.229	2.125	13.06	1.2	-0.012	0.488	8.674	0.050	.	0.0033	0.00678914	0.0128	0.0012	0.0152	0	0.02	0.0157	0.0147	0.0141	0.003758	581	154602	rs181288707	0.0101	0.0097	0.0100	0.0101	0.0316	0.0099	0.0099	0.0271	0.0254	0.0025	0.0093	0.0059	0	0.0023	0.0316	0.0112	0.0099	0.0071	0.0085	0.0085	0.0083	0.0087	0.0159	0.0081	0.0080	0.0142	0.0136	0.0023	0.0518	0.0159	0.0081	0	0.0013	0.0621	0.0114	0.0162	0.0077	0.012	0.54683	D	0.247	0.23984	T	0.96	0.55278	D	0.643	0.52216	P	.	.	.	.	1	0.08975	N	0.895	0.22405	L	4.52	0.01997	T	-2.69	0.58407	D	0.076	0.06990	-0.8846	0.49390	T	0.005	0.01506	T	9	0.004870236	0.00104	T	.	.	.	0.050	0.13987	.	.	0.193865811164	0.18958	0.04833071238415083	0.04776	0.351719312492	0.37009	0.401592552662	0.25290	T	0.013176	0.25379	T	-0.607411	0.00131	T	-0.634249	0.10094	T	0.0371497133714363	0.03182	T	0.513749	0.25428	T	0.15109834	0.34367	0.23682012	0.48963	0.15109834	0.34366	0.23682012	0.48962	-8.088	0.61669	D	.	.	0.164	0.48837	B	.;.;.;.;.	.;.;.;.;.	0.432212	0.08027	4.745	0.8199269451612442	0.13964	0.38591	0.26023	N	AEFDBCI	0.196794	0.32375	N	-0.471405951265528	0.23022	1.23333	-0.612543006750399	0.19170	1.027386	0.999877986188953	0.44625	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	4.97	1.2	0.20181	-1.893000	0.01700	-5.867000	0.01570	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7855:0.0:0.2145:0.0	8.674	0.33327	283	0.88803	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	626.11	17	chr4	56314535	.	A	G	626.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.456e+00;DP=510;ExcessHet=0.1072;FS=4.237;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.61;ReadPosRankSum=2.67;SOR=0.285	GT:AD:DP:GQ:PL	0/1:7,11:18:99:290,0,225	19	0	2	0
chr4	68945392	68945392	A	C	exonic	UGT2A3	.	nonsynonymous SNV	UGT2A3:NM_024743:exon2:c.T778G:p.W260G,	.	.	1	1406	110	5	0	120	0.0409277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.977	D	0.000	D	1.000	D	3.515	H	0.11	T	-0.005	T	0.447	T	0.662	2.807	15.35	3.23	1.465	5.405	9.770	0.429	.	0.0028	0.00698882	0.0073	0.0005	0.0013	0	0	0.0036	0.0145	0.0372	0.00641	991	154602	rs62641705	0.0041	0.0041	0.0028	0.0053	0.0384	0.0040	0.0039	0.0373	0.0369	0.0003	0.0010	0.0215	7.576e-05	5.629e-05	0.0172	0.0014	0.0057	0.0384	0.0030	0.0030	0.0030	0.0030	0.0359	0.0027	0.0027	0.0315	0.0298	0.0002	0	0.0015	0.0239	0.0002	0.0003	0.0102	0.0022	0.0033	0.0359	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	0.986033	0.81001	D	3.65	0.94181	H	0.11	0.61208	T	-12.01	0.99630	D	0.741	0.74098	-0.0049	0.82155	T	0.447	0.78252	T	10	0.012360334	0.00266	T	.	.	.	0.429	0.73590	.	.	0.758552508207	0.75635	0.49207756518636214	0.49128	0.0192299428785	0.01881	0.445290029049	0.31300	T	0.210524	0.57104	T	-0.218644	0.18177	T	-0.0596829	0.66354	T	0.126290748303984	0.15035	T	.	.	.	0.91043717	0.92336	0.72808266	0.83935	0.91043717	0.92337	0.72808266	0.83936	-10.86	0.78884	D	.	.	0.635	0.70300	P	.	.	3.289622	0.45108	22.1	0.97635165120610046	0.35046	0.95821	0.66297	D	AEFBI	0.805579	0.73012	D	0.596173627938472	0.72934	5.884708	0.424873680903011	0.63117	4.539405	0.998945740685995	0.38034	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.23	3.23	0.36150	5.361000	0.65845	.	.	0.572000	0.28966	1.000000	0.71638	1.000000	0.68203	0.008000	0.08271	1.0:0.0:0.0:0.0	9.770	0.39750	644	0.63734	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.09524	3725.92	38	chr4	68945392	.	A	C	3725.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.18;DP=994;ExcessHet=0.6776;FS=0.758;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=9.31;ReadPosRankSum=0.591;SOR=0.746	GT:AD:DP:GQ:PL	0/1:63,54:117:99:1149,0,1458	17	0	4	0
chr4	69018306	69018306	T	G	exonic	UGT2B10	.	nonsynonymous SNV	UGT2B10:NM_001290091:exon3:c.A56C:p.H19P,	.	.	425	1077	20	0	0	20	0.00919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	0.0023	9.812e-05	0.0003	0	0	0.0015	0.0022	0.0100	0.0019922	308	154602	rs200086061	0.0012	0.0012	0.0009	0.0015	0.0100	0.0011	0.0011	0.0094	0.0092	5.986e-05	0.0002	0.0192	0	0	0.0033	0.0002	0.0023	0.0100	0.0010	0.0010	0.0011	0.0009	0.0081	0.0009	0.0008	0.0061	0.0054	7.218e-05	0	0.0004	0.0219	0	0	0	0.0003	0.0014	0.0081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	6689.11	40	chr4	69018306	.	T	G	6689.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.22;DP=1256;ExcessHet=0.1072;FS=0.519;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.93;MQRankSum=0.562;QD=11.51;ReadPosRankSum=0.158;SOR=0.761	GT:AD:DP:GQ:PL	0/1:150,135:285:99:3219,0,3615	19	0	2	0
chr4	76179654	76179654	T	C	exonic	SCARB2	.	nonsynonymous SNV	SCARB2:NM_005506:exon4:c.A475G:p.M159V,	Epilepsy, progressive myoclonic 4, with or without renal failure, Autosomal recessive	.	0	1483	38	1	0	40	0.0133067	.	.	201793	not_provided|Action_myoclonus-renal_failure_syndrome|Focal_segmental_glomerulosclerosis|not_specified|Inborn_genetic_diseases|Progressive_myoclonic_epilepsy	MedGen:C3661900|MONDO:MONDO:0009699,MeSH:D020191,MedGen:C0751779,OMIM:254900,Orphanet:163696|Human_Phenotype_Ontology:HP:0000097,Human_Phenotype_Ontology:HP:0004747,MONDO:MONDO:0100313,MedGen:C0017668|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0020074,MedGen:C0751778,OMIM:PS254800,Orphanet:308,Orphanet:98261	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.46	T	0.0	B	0.002	B	0.128	N	1.000	N	0.345	N	-0.5	T	-1.072	T	0.081	T	0.028	0.565	7.056	-2.68	-0.036	-0.367	1.306	0.126	.	0.0086	0.00379393	0.0090	0.0021	0.0079	0	0.0089	0.0134	0.0121	0.0008	0.0084734	1310	154602	rs143655258	0.0093	0.0093	0.0093	0.0094	0.0255	0.0092	0.0091	0.0221	0.0209	0.0024	0.0081	0.0132	0.0001	0.0107	0.0255	0.0102	0.0104	0.0014	0.0084	0.0084	0.0085	0.0082	0.0126	0.0080	0.0078	0.0119	0.0116	0.0021	0	0.0091	0.0133	0.0002	0.0093	0.0238	0.0126	0.0137	0.0012	0.453	0.08917	T	0.312	0.19599	T	0.0	0.02946	B	0.002	0.06944	B	0.127953	0.18749	N	0.614874	1	0.19363	N	0.98	0.24916	L	-0.5	0.70480	T	-0.43	0.14390	N	0.107	0.09207	-1.0722	0.08936	T	0.081	0.31913	T	10	0.0043855906	0.00177	T	.	.	.	0.126	0.34673	.	.	0.398872588132	0.39498	0.5319715221617395	0.53122	0.241270319172	0.26655	0.28708845377	0.08500	T	0.117228	0.43716	T	-0.594187	0.00158	T	-0.614608	0.11613	T	0.000357449097651677	0.00003	T	0.644935	0.65058	T	0.094704784	0.22273	0.0792257	0.17815	0.1321169	0.30773	0.058689523	0.10888	-2.279	0.04441	T	0.09772531433022907	0.06908	0.077	0.07272	B	.;.;.;.;.;.	.;.;.;.;.;.	0.956027	0.13325	9.826	0.55732400439372587	0.05403	0.18572	0.20315	N	AEFDBHCI	0.108169	0.21528	N	-1.08282382720702	0.06960	0.3218974	-1.07108497941447	0.08273	0.4060693	0.999997896059296	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.688494	0.62686	0	0.714379	0.83352	0	.	.	5.95	-2.68	0.05686	-0.140000	0.10323	1.090000	0.23972	0.665000	0.62972	0.004000	0.16614	0.996000	0.32793	0.944000	0.48669	0.2969:0.0835:0.2595:0.3601	1.306	0.01963	892	0.26670	.;.;.;.;.;.	.	.	.	.	rs143655258	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	0.04762	2192.11	33	chr4	76179654	.	T	C	2192.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.110e-01;DP=914;ExcessHet=0.1072;FS=1.602;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.17;ReadPosRankSum=0.359;SOR=0.570	GT:AD:DP:GQ:PL	0/1:64,48:112:99:1086,0,1605	19	0	2	0
chr4	78317466	78317466	C	T	exonic	FRAS1	.	nonsynonymous SNV	FRAS1:NM_001166133:exon17:c.C1918T:p.R640C	Fraser syndrome, Autosomal recessive	.	1	1513	8	0	0	8	0.00263678	.	.	892241	not_provided|not_specified|FRAS1-related_disorder|Fraser_syndrome_1	MedGen:C3661900|MedGen:CN169374|.|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000,Orphanet:2052	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.02	D	0.96	D	0.411	B	0.796	N	1.000	N	0.465	N	-1.01	T	-0.826	T	0.228	T	0.491	1.582	11.24	-1.2	-0.133	0.622	5.827	0.201	0.0699068688237	0.0009	0.000798722	0.0008	0.0001	0.0003	0.0002	0	0.0012	0.0011	0.0003	0.0007827	121	154602	rs147869493	0.0010	0.0010	0.0010	0.0010	0.0043	0.0010	0.0009	0.0030	0.0026	0.0001	0.0007	0	0.0004	5.627e-05	0.0043	0.0012	0.0009	0.0003	0.0008	0.0008	0.0009	0.0007	0.0014	0.0007	0.0006	0.0012	0.0011	0.0001	0	0.0005	0	0.0010	9.411e-05	0	0.0014	0.0005	0.0004	0.047	0.40319	D	0.057	0.47097	T	.	.	.	.	.	.	0.796378	0.09358	N	0.918385	1	0.08975	N	0.295	0.10161	N	-1.01	0.76168	T	-1.89	0.44094	N	0.199	0.25622	-0.8256	0.53582	T	0.228	0.59271	T	10	0.03279987	0.01440	T	0.069907	0.70860	D	0.326	0.64826	.	.	0.544870321563	0.54141	0.4253693797688576	0.42453	.	.	0.209402009845	0.00786	T	.	.	.	-0.326085	0.06412	T	-0.276553	0.47157	T	0.043810415816658	0.04386	T	0.505249	0.17709	T	.	.	.	.	.	.	.	.	-6.595	0.51015	T	.	.	0.224	0.45569	B	.;.	.;.	2.432255	0.31291	18.70	0.9933660751448754	0.60012	0.02420	0.06838	N	AEFBI	0.050154	0.08739	N	-0.80201424346308	0.13258	0.6518903	-0.915746567136476	0.11722	0.5989557	0.0639358085333228	0.15312	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.71	-1.2	0.09062	0.550000	0.23052	0.871000	0.22313	-0.218000	0.08083	0.000000	0.06391	0.000000	0.08366	0.084000	0.17470	0.2208:0.5064:0.2728:0.0	5.827	0.17814	917	0.20147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	842.98	36	chr4	78317466	.	C	T	842.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.958;DP=823;ExcessHet=0.0000;FS=1.736;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.37;ReadPosRankSum=-5.390e-01;SOR=0.495	GT:AD:DP:GQ:PL	0/1:52,38:90:99:857,0,1203	20	0	1	0
chr4	81046456	81046456	G	C	exonic	BMP3	.	nonsynonymous SNV	BMP3:NM_001201:exon2:c.G1035C:p.K345N,	.	.	432	1078	11	1	0	13	0.00599355	.	.	698649	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.1	T	1.0	D	0.997	D	0.000	N	1.000	D	2.545	M	-0.98	T	-0.436	T	0.265	T	0.054	2.090	12.94	1.03	0.186	1.516	5.969	0.332	.	0.0114	0.00878594	0.0049	0.0289	0.0037	0	0.0014	0.0029	0	0.0033	0.0049353	763	154602	rs61729826	0.0037	0.0037	0.0038	0.0036	0.0277	0.0036	0.0035	0.0262	0.0256	0.0277	0.0034	0.0008	0	0.0010	0.0059	0.0032	0.0052	0.0036	0.0100	0.0100	0.0100	0.0100	0.0284	0.0096	0.0094	0.0271	0.0266	0.0284	0	0.0052	0.0014	0	0.0009	0.0102	0.0032	0.0071	0.0033	0.06	0.37326	T	0.014	0.62352	D	1.0	0.90584	D	0.997	0.86255	D	0.000003	0.62929	N	0.136724	0.999979	0.53665	D	2.62	0.76659	M	-0.98	0.75789	T	-2.38	0.52451	N	0.34	0.38129	-0.4361	0.70860	T	0.265	0.63598	T	10	0.008763164	0.00198	T	.	.	.	0.332	0.65424	0.306	0.27646	0.810575280841	0.80879	0.5417158097507352	0.54096	0.239339673074	0.26486	0.705370545387	0.67921	T	0.664076	0.89954	D	-0.498629	0.00582	T	-0.467392	0.25798	T	0.0608154745942052	0.07296	T	0.616438	0.23595	T	0.15154265	0.34444	0.125605	0.30262	0.15154265	0.34444	0.125605	0.30261	-4.058	0.24668	T	.	.	0.192	0.41094	B	.	.	2.478871	0.31965	18.90	0.99804420559195162	0.88906	0.97138	0.72912	D	AEFBI	0.492403	0.52906	N	0.268471135075821	0.54558	3.621068	0.117626247270571	0.45451	2.807995	2.22081899481336E-5	0.03498	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.16	1.03	0.19161	1.154000	0.31299	1.289000	0.25400	-0.104000	0.15758	1.000000	0.71638	1.000000	0.68203	0.228000	0.22680	0.2965:0.0:0.5707:0.1328	5.969	0.18577	855	0.34697	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1557.98	37	chr4	81046456	.	G	C	1557.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.407;DP=892;ExcessHet=0.0000;FS=6.766;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.23;ReadPosRankSum=1.04;SOR=1.348	GT:AD:DP:GQ:PL	0/1:41,55:96:99:1572,0,1041	20	0	1	0
chr4	87114755	87114755	C	T	exonic	AFF1	.	nonsynonymous SNV	AFF1:NM_001313960:exon9:c.C815T:p.S272F	.	.	9	1479	34	0	0	34	0.0113636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.759	P	0.181	B	0.882	N	1.000	N	1.01	L	-0.16	T	-1.017	T	0.105	T	0.299	0.223	5.201	3.16	0.374	1.540	6.780	0.172	.	0.0035	0.00299521	0.0042	0.0010	0.0047	0	0.0153	0.0048	0.0045	0.0012	0.0037774	584	154602	rs61734705	0.0033	0.0033	0.0033	0.0032	0.0198	0.0032	0.0032	0.0168	0.0157	0.0012	0.0043	0.0080	0	0.0138	0.0198	0.0028	0.0041	0.0013	0.0037	0.0037	0.0031	0.0043	0.0039	0.0034	0.0033	0.0031	0.0029	0.0008	0	0.0039	0.0118	0	0.0166	0.0170	0.0034	0.0047	0.0010	0.062	0.36912	T	0.72	0.05345	T	0.759	0.43487	P	0.181	0.35894	B	0.882298	0.08747	N	0.949291	1	0.08975	N	2.17	0.60663	M	-0.16	0.65378	T	-2.06	0.47175	N	0.348	0.42149	-1.0172	0.24625	T	0.105	0.38513	T	10	0.006207943	0.00140	T	.	.	.	0.172	0.43662	.	.	0.562879358496	0.55950	0.19588485410126055	0.19505	0.0532509764265	0.05870	0.425953328609	0.28655	T	0.232717	0.59934	T	-0.418167	0.01757	T	-0.367754	0.37152	T	0.0066038834103697	0.00074	T	0.810019	0.46084	T	0.07412139	0.16611	0.08228966	0.18771	0.07412139	0.16611	0.08228966	0.18770	-7.231	0.55703	T	.	.	0.110	0.31558	B	.;.;.	.;.;.	1.278152	0.16773	12.76	0.6391828850066581	0.07352	0.22897	0.21899	N	AEFDBHCIJ	0.096527	0.19484	N	-0.670679487230267	0.16860	0.8627298	-0.73702708724918	0.16042	0.8467487	0.999938047868116	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	5.82	3.16	0.35406	1.390000	0.34072	1.398000	0.26172	-0.218000	0.08083	0.001000	0.13787	0.001000	0.17328	0.003000	0.05239	0.2521:0.6073:0.0:0.1406	6.780	0.22823	761	0.50382	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2551.11	33	chr4	87114755	.	C	T	2551.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.48;DP=884;ExcessHet=0.1072;FS=1.072;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=0.859;SOR=0.668	GT:AD:DP:GQ:PL	0/1:39,59:98:99:1612,0,1013	19	0	2	0
chr4	87615730	87615733	ATAG	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	983	222	100	33	184	350	0.272131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	6438.4	35	chr4	87615730	.	ATAG	A,*	6438.4	.	AC=12,23;AF=0.286,0.548;AN=42;BaseQRankSum=2.60;DP=1174;ExcessHet=2.5830;FS=1.919;InbreedingCoeff=-0.2000;MLEAC=12,23;MLEAF=0.286,0.548;MQ=57.85;MQRankSum=-3.073e+00;QD=6.83;ReadPosRankSum=1.06;SOR=0.767	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,13,12:25:99:0|1:87615730_ATAG_A:1673,547,459,560,0,555:87615730	0	2	2	0
chr4	87615734	87615767	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1008	200	99	33	182	347	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	5806.96	35	chr4	87615734	.	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	C,*	5806.96	.	AC=12,23;AF=0.286,0.548;AN=42;BaseQRankSum=1.10;DP=1195;ExcessHet=2.5830;FS=1.919;InbreedingCoeff=-0.2000;MLEAC=12,23;MLEAF=0.286,0.548;MQ=57.82;MQRankSum=-3.073e+00;QD=6.42;ReadPosRankSum=0.870;SOR=0.774	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,13,12:25:99:0|1:87615730_ATAG_A:1656,533,486,558,0,710:87615730	0	2	2	0
chr4	87615936	87615936	A	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1110	191	63	131	27	352	0.459689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7083	4716.91	13	chr4	87615936	.	A	G,*	4716.91	.	AC=11,7;AF=0.458,0.292;AN=24;BaseQRankSum=1.09;DP=703;ExcessHet=0.4078;FS=6.971;InbreedingCoeff=0.0517;MLEAC=16,10;MLEAF=0.667,0.417;MQ=57.27;MQRankSum=-3.640e+00;QD=9.93;ReadPosRankSum=0.431;SOR=1.090	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,26:26:76:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1101,1101,1101,76,76,0:87615920	0	3	4	9
chr4	87615956	87615956	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7083	3111.82	11	chr4	87615956	.	T	C,*	3111.82	.	AC=11,6;AF=0.458,0.250;AN=24;BaseQRankSum=1.06;DP=620;ExcessHet=2.6845;FS=12.079;InbreedingCoeff=-0.0149;MLEAC=17,9;MLEAF=0.708,0.375;MQ=57.02;MQRankSum=-4.168e+00;QD=7.06;ReadPosRankSum=-1.842e+00;SOR=1.055	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,26:26:76:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1101,1101,1101,76,76,0:87615920	0	3	5	9
chr4	87615962	87615962	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1185	208	24	81	24	210	0.30897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6923	3076.15	8	chr4	87615962	.	C	T,*	3076.15	.	AC=12,6;AF=0.462,0.231;AN=26;BaseQRankSum=0.443;DP=591;ExcessHet=0.7589;FS=9.385;InbreedingCoeff=0.0947;MLEAC=17,8;MLEAF=0.654,0.308;MQ=56.96;MQRankSum=-4.002e+00;QD=7.24;ReadPosRankSum=-1.720e+00;SOR=0.974	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,26:26:76:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1101,1101,1101,76,76,0:87615920	1	4	4	8
chr4	87615971	87615971	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1193	243	20	43	23	129	0.179054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7083	1753.25	7	chr4	87615971	.	C	T,*	1753.25	.	AC=11,6;AF=0.458,0.250;AN=24;BaseQRankSum=0.430;DP=572;ExcessHet=0.9330;FS=12.644;InbreedingCoeff=-0.0283;MLEAC=16,9;MLEAF=0.667,0.375;MQ=57.48;MQRankSum=-4.485e+00;QD=4.26;ReadPosRankSum=-1.839e+00;SOR=1.150	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,26:26:76:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1101,1101,1101,76,76,0:87615920	0	3	5	9
chr4	87615999	87616080	GATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGTGATAGCAGTGACAGCAGCA	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1069	426	12	14	1	41	0.044843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1765	2282.15	5	chr4	87615999	.	GATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGTGATAGCAGTGACAGCAGCA	G,*	2282.15	.	AC=4,2;AF=0.118,0.059;AN=34;BaseQRankSum=2.41;DP=492;ExcessHet=0.0022;FS=0.000;InbreedingCoeff=0.4539;MLEAC=5,3;MLEAF=0.147,0.088;MQ=59.19;MQRankSum=-2.624e+00;QD=15.42;ReadPosRankSum=0.297;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,24,0:24:73:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1079,73,0,1079,73,1080:87615920	13	1	2	4
chr4	87616001	87616001	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1074	417	12	15	4	46	0.0479452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	71.45	5	chr4	87616001	.	T	A,*	71.45	.	AC=2,6;AF=0.050,0.150;AN=40;DP=491;ExcessHet=0.0003;FS=0.000;InbreedingCoeff=0.5399;MLEAC=1,7;MLEAF=0.025,0.175;MQ=59.50;QD=0.48;SOR=0.692	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,24:24:73:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1079,1079,1080,73,73,0:87615920	15	1	0	1
chr4	87616007	87616007	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1058	432	2	4	26	36	0.0114416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	105.75	7	chr4	87616007	.	T	C,*	105.75	.	AC=4,6;AF=0.095,0.143;AN=42;DP=498;ExcessHet=0.0001;FS=0.000;InbreedingCoeff=0.6744;MLEAC=2,6;MLEAF=0.048,0.143;MQ=53.79;QD=0.70;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,24:24:73:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1079,1079,1080,73,73,0:87615920	15	2	0	0
chr4	87616008	87616008	G	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1045	447	12	14	4	44	0.0428266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	71.22	7	chr4	87616008	.	G	A,*	71.22	.	AC=2,4;AF=0.050,0.100;AN=40;DP=501;ExcessHet=0.0011;FS=0.642;InbreedingCoeff=0.4327;MLEAC=1,4;MLEAF=0.025,0.100;MQ=59.50;QD=0.52;SOR=0.800	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,24:24:73:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1079,1079,1080,73,73,0:87615920	16	1	0	1
chr4	87616019	87616028	CAGCAGCAAT	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	693.18	7	chr4	87616019	.	CAGCAGCAAT	C,*	693.18	.	AC=2,4;AF=0.050,0.100;AN=40;DP=533;ExcessHet=0.0013;FS=0.000;InbreedingCoeff=0.4839;MLEAC=2,4;MLEAF=0.050,0.100;MQ=50.57;QD=4.59;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,24:24:73:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1079,1079,1080,73,73,0:87615920	16	1	0	1
chr4	87616046	87616046	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	1014	481	12	14	1	41	0.0399202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1765	641.05	17	chr4	87616046	.	C	A,*	641.05	.	AC=2,4;AF=0.059,0.118;AN=34;BaseQRankSum=-1.937e+00;DP=586;ExcessHet=0.0015;FS=0.000;InbreedingCoeff=0.3914;MLEAC=2,5;MLEAF=0.059,0.147;MQ=50.53;MQRankSum=1.39;QD=4.19;ReadPosRankSum=0.892;SOR=0.669	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,24:24:73:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1079,1079,1080,73,73,0:87615920	13	1	0	4
chr4	87616061	87616061	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	693.45	18	chr4	87616061	.	T	C,*	693.45	.	AC=2,4;AF=0.200,0.400;AN=10;BaseQRankSum=-1.239e+00;DP=595;ExcessHet=0.0096;FS=0.595;InbreedingCoeff=0.1523;MLEAC=5,9;MLEAF=0.500,0.900;MQ=54.88;MQRankSum=2.78;QD=4.50;ReadPosRankSum=2.08;SOR=0.597	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,24:24:73:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1079,1079,1080,73,73,0:87615920	1	1	0	16
chr4	87616064	87616109	TAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGACAGCAGTGAA	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	679.13	18	chr4	87616064	.	TAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGACAGCAGTGAA	T,*	679.13	.	AC=2,4;AF=0.071,0.143;AN=28;BaseQRankSum=-1.920e-01;DP=586;ExcessHet=0.0018;FS=0.595;InbreedingCoeff=0.3428;MLEAC=3,5;MLEAF=0.107,0.179;MQ=54.88;MQRankSum=2.78;QD=4.41;ReadPosRankSum=2.13;SOR=0.597	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,24:24:73:1|1:87615920_TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC_T:1079,1079,1080,73,73,0:87615920	10	1	0	7
chr4	88075542	88075542	G	A	exonic	PKD2	.	nonsynonymous SNV	PKD2:NM_000297:exon15:c.G2755A:p.D919N,	Polycystic kidney disease 2	.	.	.	.	.	.	.	.	.	.	1377951	Autosomal_dominant_polycystic_kidney_disease|Polycystic_kidney_disease_2	MONDO:MONDO:0004691,MedGen:C0085413,Orphanet:730|MONDO:MONDO:0013131,MedGen:C2751306,OMIM:613095	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.991	D	0.627	P	0.000	D	1.000	D	1.905	M	-0.55	T	0.798	D	0.815	D	0.125	5.524	35	5.2	2.409	7.352	18.727	0.422	0.1011472711	7.7e-05	0.000199681	4.942e-05	9.61e-05	0	0.0001	0	2.997e-05	0	0.0001	4.53e-05	7	154602	rs370489860	4.994e-05	4.994e-05	4.356e-05	5.638e-05	0.0008	4.059e-05	3.734e-05	0.0006	0.0005	0.0002	0	0	0.0008	0	0	2.158e-05	1.656e-05	0.0001	3.94e-05	3.937e-05	1.285e-05	6.714e-05	0.0004	1.715e-05	1.129e-05	6.84e-05	2.862e-05	4.811e-05	0	0	0	0.0004	0	0	2.94e-05	0	0	0.003	0.68238	D	0.011	0.64786	D	0.991	0.64070	D	0.627	0.51631	P	0.000000	0.84330	D	0.050327	1	0.81001	D	1.955	0.52871	M	-0.55	0.92938	T	-2.28	0.50830	N	0.258	0.43514	0.798	0.94391	D	0.815	0.93754	D	10	0.21788475	0.38414	T	0.101147	0.77386	D	0.422	0.73078	.	.	0.865583387868	0.86428	0.31310858160465765	0.31223	0.548579291965	0.51791	0.646223843098	0.59449	T	0.469354	0.80292	T	-0.130924	0.31346	T	-0.161412	0.58226	T	0.317460864782333	0.25719	T	0.939006	0.77019	D	0.28936866	0.51933	0.3255371	0.58468	0.29991817	0.52897	0.28330585	0.54322	-5.563	0.42453	T	.	.	0.115	0.22969	B	.;.;.	.;.;.	4.746627	0.76605	26.5	0.99921602758183004	0.98787	0.98566	0.84167	D	AEFDBIJ	0.896156	0.83692	D	0.643890330190432	0.75975	6.401713	0.653675570966984	0.78884	6.967105	0.999999999999948	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.2	5.2	0.71720	7.468000	0.79953	11.517000	0.93029	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.727	0.91682	616	0.66398	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2144.98	33	chr4	88075542	.	G	A	2144.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.73;DP=875;ExcessHet=0.0000;FS=1.843;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=0.774;SOR=0.844	GT:AD:DP:GQ:PL	0/1:91,87:178:99:2159,0,2143	20	0	1	0
chr4	97981290	97981290	G	A	exonic	STPG2	.	nonsynonymous SNV	STPG2:NM_174952:exon6:c.C641T:p.P214L,	.	.	435	1085	2	0	0	2	0.00092081	.	.	2361222	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.425	M	1.63	T	-0.667	T	0.218	T	0.837	3.526	18.00	5.47	2.549	6.140	18.098	0.551	0.0226797584763	0.0002	0.000199681	0.0002	9.741e-05	8.642e-05	0	0	0.0001	0	0.0006	0.0001617	25	154602	rs139988382	7.799e-05	7.798e-05	4.901e-05	0.0001	0.0012	6.6e-05	6.143e-05	0.0006	0.0004	0	0.0001	0	0	0	0.0012	6.116e-05	0.0002	0.0002	7.226e-05	7.219e-05	7.712e-05	6.718e-05	0.0002	3.97e-05	3.127e-05	4.766e-05	3.339e-05	2.408e-05	0	0.0001	0	0	0	0	0.0001	0	0.0002	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	2.955	0.85029	M	1.63	0.28002	T	-7.64	0.95455	D	0.871	0.86833	-0.6672	0.61955	T	0.218	0.58033	T	10	0.7336893	0.74473	D	0.02268	0.45590	T	0.551	0.81427	.	.	0.337621943819	0.33374	0.7691421166074461	0.76863	0.111911538942	0.12625	0.533803462982	0.43571	T	0.037316	0.24431	T	-0.0554803	0.43611	T	-0.0069515	0.69883	D	0.906542122364044	0.56059	D	0.737326	0.35372	T	0.826549	0.85664	0.7274938	0.83900	0.826549	0.85665	0.7274938	0.83901	-7.954	0.60755	D	.	.	0.377	0.58263	A	.	.	4.667903	0.74577	26.2	0.99855695841666758	0.93458	0.92875	0.56761	D	AEFCI	0.629835	0.61140	D	0.740008859865463	0.82254	7.717219	0.683417812207133	0.81121	7.453048	0.602475548478395	0.21737	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.47	5.47	0.80345	6.268000	0.72526	9.584000	0.81034	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:1.0:0.0	18.098	0.89426	912	0.21483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	325.98	47	chr4	97981290	.	G	A	325.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=743;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.19;ReadPosRankSum=0.461;SOR=0.793	GT:AD:DP:GQ:PL	0/1:19,13:32:99:340,0,510	20	0	1	0
chr4	99318097	99318097	C	G	exonic	ADH1B	.	nonsynonymous SNV	ADH1B:NM_000668:exon3:c.G208C:p.A70P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.973	D	0.964	D	0.274	N	0.986	N	1.745	L	3.67	T	-1.090	T	0.040	T	0.61	3.658	18.60	2.36	0.190	4.136	8.164	0.203	0.00535122917252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	.	.	.	.	.	.	0.274284	0.15067	N	0.646799	0.986388	0.24621	N	.	.	.	3.67	0.04188	T	-2.9	0.60827	D	0.403	0.44379	-1.0901	0.05515	T	0.040	0.17404	T	10	0.78878886	0.78477	D	0.005351	0.13710	T	0.203	0.48915	0.793	0.91438	0.298403945805	0.29456	0.868512317625715	0.86816	0.674296566844	0.59635	0.391434371471	0.23871	T	0.010873	0.09774	T	-0.116403	0.33711	T	-0.404982	0.32804	T	0.962773263454437	0.66465	D	0.949205	0.80472	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.888	0.85099	P	.;.;.;.	.;.;.;.	3.508601	0.49119	22.7	0.99207734913482859	0.55472	0.90290	0.51349	D	AEFDGBI	0.896173	0.83696	D	-0.172128327332495	0.34298	1.956007	-0.333588702841019	0.27021	1.496536	0.828569575732975	0.24652	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.17	2.36	0.28258	3.367000	0.52075	3.858000	0.40123	-0.233000	0.07663	0.778000	0.29449	0.208000	0.23622	0.125000	0.19370	0.168:0.7474:0.0:0.0847	8.164	0.30373	624	0.65661	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.45	6049.22	166	chr4	99318097	.	C	G	6049.22	.	AC=18;AF=0.450;AN=40;BaseQRankSum=-2.037e+00;DP=3479;ExcessHet=30.0624;FS=302.606;InbreedingCoeff=-0.7873;MLEAC=19;MLEAF=0.475;MQ=59.97;MQRankSum=0.00;QD=2.22;ReadPosRankSum=-1.750e-01;SOR=13.960	GT:AD:DP:GQ:PL	0/1:95,74:169:99:695,0,1241	2	0	18	1
chr4	99347057	99347057	C	G	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon3:c.G208C:p.A70P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.79402	D	0.987	0.61912	D	0.964	0.71005	D	.	.	.	.	.	.	.	1.585	0.39878	L	.	.	.	.	.	.	0.553	0.57860	.	.	.	.	.	.	.	0.45086047	0.58689	T	.	.	.	.	.	.	.	0.456647468687	0.45291	0.8867280223172282	0.88641	.	.	0.398606598377	0.24874	T	0.025436	0.35537	T	0.163225	0.70500	D	-0.00331565	0.70121	D	.	.	.	0.937806	0.78939	D	0.76270866	0.81614	0.69800264	0.82213	0.76270866	0.81615	0.69800264	0.82214	-9.592	0.71430	D	.	.	0.950	0.86857	P	.;.;.	.;.;.	3.454651	0.48119	22.6	0.99707451619795451	0.81074	0.77981	0.38408	D	AEFI	0.799589	0.72581	D	.	.	.	.	.	.	2.3174768173114E-5	0.03498	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	3.71	2.86	0.32427	2.765000	0.47304	4.616000	0.44056	0.549000	0.26987	0.378000	0.25989	0.437000	0.24884	0.144000	0.20092	0.0:0.9091:0.0:0.0909	11.418	0.49207	625	0.65529	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4	6153.33	123	chr4	99347057	.	C	G	6153.33	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-8.170e-01;DP=2885;ExcessHet=20.9642;FS=293.864;InbreedingCoeff=-0.6783;MLEAC=17;MLEAF=0.425;MQ=59.97;MQRankSum=0.00;QD=3.24;ReadPosRankSum=-6.350e-01;SOR=13.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:61,65:126:99:.:.:804,0,654	4	0	16	1
chr4	118338294	118338294	C	T	exonic	PRSS12	.	nonsynonymous SNV	PRSS12:NM_003619:exon2:c.G523A:p.G175S,	Mental retardation, autosomal recessive 1, Autosomal recessive	.	0	1504	18	0	0	18	0.00594845	.	.	207102	PRSS12-related_disorder|Intellectual_disability,_autosomal_recessive_1|not_specified|not_provided	.|MONDO:MONDO:0009580,MedGen:C1855304,OMIM:249500,Orphanet:88616|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.14	T	0.955	P	0.506	P	0.000	D	0.871	D	2.195	M	0.39	T	-0.647	T	0.148	T	0.257	3.714	18.86	4.51	1.255	2.227	12.535	0.257	0.0576085909179	0.0021	0.00279553	0.0021	0.0061	0.0024	0	0.0003	0.0020	0.0045	0.0016	0.0020116	311	154602	rs145151396	0.0015	0.0015	0.0015	0.0016	0.0085	0.0015	0.0015	0.0066	0.0059	0.0051	0.0025	0.0003	0	0.0004	0.0085	0.0014	0.0021	0.0026	0.0027	0.0027	0.0029	0.0025	0.0047	0.0025	0.0024	0.0041	0.0039	0.0047	0	0.0037	0.0006	0	0.0004	0.0102	0.0019	0.0085	0.0015	0.135	0.26192	T	0.153	0.32144	T	0.955	0.54515	P	0.506	0.47823	P	0.000000	0.84330	D	0.043981	0.871458	0.35571	D	1.94	0.52218	M	0.39	0.57419	T	-3.32	0.66085	D	0.459	0.49602	-0.6475	0.62823	T	0.148	0.47451	T	10	0.010552824	0.00234	T	0.057609	0.67028	D	0.257	0.56827	.	.	0.701269253602	0.69868	0.7165600655479207	0.71599	0.541306599398	0.51292	0.339531034231	0.16368	T	0.195372	0.55143	T	-0.436281	0.01360	T	-0.397683	0.33653	T	0.0364894784524041	0.03067	T	0.743426	0.36288	T	0.24946946	0.47941	0.17024039	0.39118	0.21671711	0.44137	0.16610642	0.38390	-6.266	0.48453	T	.	.	0.090	0.12418	B	.	.	2.795842	0.36766	20.3	0.99489805958635746	0.67403	0.79352	0.39305	D	AEFDBCI	0.372233	0.45796	N	-0.06526069059704	0.38923	2.287261	-0.148774829113755	0.33455	1.913908	0.999999920958629	0.74766	0.740787	0.97801	0	0.588015	0.36545	0	0.709663	0.75317	0	0.673998	0.66042	0	.	.	5.35	4.51	0.54589	2.086000	0.41268	0.488000	0.18872	-0.249000	0.07183	0.999000	0.42656	0.070000	0.22201	0.099000	0.18236	0.0:0.9219:0.0:0.0781	12.535	0.55483	944	0.12746	SRCR domain|SRCR domain|SRCR-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2864.11	33	chr4	118338294	.	C	T	2864.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.754;DP=881;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.77;ReadPosRankSum=1.10;SOR=0.724	GT:AD:DP:GQ:PL	0/1:41,64:105:99:1599,0,930	19	0	2	0
chr4	122743751	122743751	A	G	exonic	BBS12	.	nonsynonymous SNV	BBS12:NM_152618:exon2:c.A1859G:p.Q620R	Bardet-Biedl syndrome 12, Autosomal recessive	.	0	1511	11	0	0	11	0.00362677	.	.	428273	not_specified|Bardet-Biedl_syndrome|Bardet-Biedl_syndrome_1|BBS12-related_disorder|not_provided|Bardet-Biedl_syndrome_12	MedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|.|MedGen:C3661900|MONDO:MONDO:0014440,MedGen:C1859570,OMIM:615989,Orphanet:110	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.33	T	0.934	P	0.643	P	0.035	N	1.000	N	1.95	M	-0.39	T	-0.611	T	0.339	T	0.458	2.396	13.97	5.81	2.217	4.744	16.177	0.222	0.0271584996118	0.0008	.	0.0006	9.645e-05	0.0004	0	0	0.0009	0	0.0002	0.0006209	96	154602	rs139278612	0.0006	0.0006	0.0006	0.0006	0.0026	0.0005	0.0005	0.0016	0.0013	0.0001	0.0007	0.0007	0	0	0.0026	0.0006	0.0008	0.0003	0.0005	0.0005	0.0005	0.0004	0.0009	0.0004	0.0003	0.0007	0.0007	4.826e-05	0	0.0004	0.0003	0	0	0	0.0009	0	0	0.031	0.45039	D	0.062	0.45318	T	0.934	0.52202	P	0.643	0.52216	P	0.034628	0.24746	N	0.442058	1	0.08975	N	2.655	0.77738	M	-0.39	0.69158	T	-1.25	0.31576	N	0.245	0.27792	-0.6108	0.64370	T	0.339	0.70486	T	10	0.10503021	0.19394	T	0.027158	0.50001	D	0.222	0.51872	.	.	0.809745172812	0.80795	0.27689204167236214	0.27602	0.412975415952	0.42019	0.273145258427	0.06555	T	0.068718	0.33527	T	-0.268843	0.11886	T	-0.227773	0.51986	T	0.0926866150619246	0.11532	T	0.624837	0.24114	T	0.17414626	0.38202	0.17718011	0.40302	0.17414626	0.38201	0.17718011	0.40301	-4.108	0.25408	T	0.7717832519587529	0.85269	0.091	0.14797	B	.;.	.;.	3.546639	0.49836	22.8	0.99720394747942087	0.81984	0.84716	0.43803	D	AEFDBCI	0.282756	0.39602	N	0.285092142865061	0.55391	3.703323	0.250903061445806	0.52702	3.443181	0.999997528288319	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.81	5.81	0.92413	4.142000	0.57810	5.248000	0.48084	0.691000	0.84096	0.983000	0.35670	1.000000	0.68203	0.967000	0.53440	1.0:0.0:0.0:0.0	16.177	0.81677	461	0.78683	.;.	.	.	.	.	.	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	0.02381	1099.98	33	chr4	122743751	.	A	G	1099.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.515e+00;DP=1199;ExcessHet=0.0000;FS=5.965;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.09;ReadPosRankSum=0.701;SOR=0.581	GT:AD:DP:GQ:PL	0/1:60,49:109:99:1114,0,1631	20	0	1	0
chr4	125449070	125449070	G	A	exonic	FAT4	.	nonsynonymous SNV	FAT4:NM_001291285:exon10:c.G8060A:p.R2687Q	Hennekam lymphangiectasia-lymphedema syndrome 2, Autosomal recessive;Van Maldergem syndrome 2, Autosomal recessive	YES	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.117	B	0.019	B	0.011	U	0.986	D	-0.155	N	0.75	T	-1.065	T	0.054	T	0.046	1.590	11.27	5.02	1.407	4.895	9.541	0.083	0.00690139784479	.	.	5.799e-05	0	0	0.0005	0	3.002e-05	0	6.058e-05	4.53e-05	7	154602	rs777764521	1.505e-05	1.505e-05	1.77e-05	1.238e-05	0.0003	9.85e-06	8.41e-06	0.0001	0.0001	2.988e-05	0	0	0.0003	0	0.0003	5.396e-06	0	3.479e-05	6.583e-06	1.314e-05	0	1.348e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.38	0.11191	T	1.0	0.01155	T	0.046	0.26519	B	0.019	0.18783	B	0.010980	0.29712	U	0.000000	0.985788	0.40334	D	0.255	0.09829	N	0.75	0.50192	T	0.42	0.03352	N	0.121	0.11197	-1.0651	0.10526	T	0.054	0.22883	T	10	0.050094992	0.04692	T	0.006901	0.18261	T	0.083	0.24192	.	.	0.151262610727	0.14761	0.24804494689379583	0.24718	0.180123895676	0.20259	0.211375027895	0.00871	T	0.025595	0.19108	T	-0.478548	0.00754	T	-0.605168	0.12380	T	0.0575297231732835	0.06774	T	0.89651	0.63872	D	0.04999956	0.08965	0.040714867	0.04463	0.04999956	0.08964	0.040714867	0.04463	-3.396	0.15003	T	.	.	0.075	0.05579	B	.;.	.;.	2.442620	0.31438	18.74	0.96928588378928715	0.31648	0.91722	0.54125	D	AEFBI	0.324508	0.42638	N	-0.308482173063226	0.28824	1.593177	-0.0684486543051126	0.36704	2.139369	0.497572572461711	0.20915	0.732398	0.92422	0	0.573888	0.26702	0	0.618467	0.43123	0	0.727631	0.95156	0	.	.	5.9	5.02	0.66742	4.924000	0.63118	9.892000	0.82281	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0805:0.1421:0.7773:0.0	9.541	0.38416	922	0.19044	Cadherin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	3732.98	144	chr4	125449070	.	G	A	3732.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.77;DP=2750;ExcessHet=0.0000;FS=2.977;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=1.21;SOR=0.575	GT:AD:DP:GQ:PL	0/1:166,155:321:99:3747,0,3873	20	0	1	0
chr4	139730437	139730439	CTG	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon3:c.2308_2310del:p.Q772del,	.	.	0	0	0	225	1	451	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	76395.26	66	chr4	139730430	.	TCTGCTGCTG	TCTGCTG,T	76395.26	.	AC=41,1;AF=0.976,0.024;AN=42;BaseQRankSum=-1.573e+00;DP=1994;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=60.00;MQRankSum=0.00;QD=28.49;ReadPosRankSum=0.778;SOR=0.141	GT:AD:DP:GQ:PL	1/1:0,101,0:103:99:4530,304,0,4547,319,4635	0	20	0	0
chr4	139730431	139730439	CTGCTGCTG	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon3:c.2308_2316del:p.Q770_Q772del,	.	.	0	0	0	225	1	451	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0003	0	0	1.94e-05	3	154602	rs760330670	0.0001	0.0002	0.0001	0.0001	0.0001	9.839e-05	9.263e-05	0.0001	0.0001	0.0001	0	0	0	0	0	0.0001	5.542e-05	4.047e-05	0.0001	0.0001	0.0002	0.0001	0.0002	9.181e-05	7.731e-05	0.0001	0.0001	0.0001	0	0	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	76395.26	66	chr4	139730430	.	TCTGCTGCTG	TCTGCTG,T	76395.26	.	AC=41,1;AF=0.976,0.024;AN=42;BaseQRankSum=-1.573e+00;DP=1994;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=60.00;MQRankSum=0.00;QD=28.49;ReadPosRankSum=0.778;SOR=0.141	GT:AD:DP:GQ:PL	1/1:0,101,0:103:99:4530,304,0,4547,319,4635	0	20	0	0
chr4	140563137	140563137	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G601C:p.A201P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.949	P	0.761	P	0.009	N	1.000	N	2.97	M	-1.23	T	-0.477	T	0.493	T	0.582	1.307	10.28	0.338	-0.014	1.889	3.693	0.377	0.0293953235492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.759e-05	0.0002	3.296e-05	2.218e-05	3.267e-05	2.08e-05	1.831e-05	2.392e-05	2.122e-05	3.018e-05	0	0	0	0	0	3.267e-05	1.667e-05	2.335e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.22312	T	0.203	0.27325	T	0.949	0.53761	P	0.761	0.56482	P	0.008935	0.30598	N	0.367111	1	0.08975	N	3.205	0.89189	M	-1.23	0.78860	T	-2.05	0.47008	N	0.643	0.65501	-0.4766	0.69490	T	0.493	0.80757	T	10	0.76555115	0.76675	D	0.029395	0.51914	D	0.377	0.69527	0.425	0.47021	0.867737003841	0.86645	0.8997779227898309	0.89949	0.733378337434	0.62839	0.275326251984	0.06849	T	0.503659	0.82306	D	0.0583213	0.59402	T	-0.154002	0.58889	T	0.917825281620026	0.57582	D	0.40366	0.10339	T	0.28733265	0.51744	0.26873308	0.52745	0.28733265	0.51744	0.26873308	0.52744	-7.449	0.57250	T	.	.	0.826	0.78531	P	.	.	2.363669	0.30321	18.40	0.99216242249267406	0.55747	0.70984	0.34819	D	AEFBI	0.260905	0.37897	N	-0.150634784784455	0.35206	2.019386	-0.344403961495631	0.26682	1.475416	0.680793574183654	0.22476	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.22	0.338	0.15214	1.750000	0.37956	-0.150000	0.11428	-0.176000	0.10722	0.930000	0.32276	0.000000	0.08366	0.270000	0.23768	0.1804:0.289:0.0:0.5306	3.693	0.07887	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	8657.43	102	chr4	140563137	.	C	G	8657.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.013e+00;DP=2157;ExcessHet=43.6797;FS=230.561;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=4.52;ReadPosRankSum=-6.060e-01;SOR=13.068	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,44:106:99:0|1:140563137_C_G:689,0,1629:140563137	1	0	20	0
chr4	140563138	140563138	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G600C:p.E200D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.004	B	0.007	B	0.003	N	1.000	N	0.365	N	-1.27	T	-1.011	T	0.158	T	0.095	-1.272	0.044	-1.38	-0.574	-0.505	2.216	0.090	0.0146202776725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	2.052e-06	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	0.05137	T	0.791	0.04181	T	0.004	0.12183	B	0.007	0.12992	B	0.003241	0.35241	N	0.324932	0.999999	0.08975	N	0.56	0.15190	N	-1.27	0.79277	T	-0.52	0.16187	N	0.133	0.12913	-1.0108	0.26666	T	0.158	0.49027	T	10	0.05424103	0.05744	T	0.01462	0.34856	T	0.090	0.26093	0.368	0.37687	0.494433119893	0.49078	0.5936266468194845	0.59292	0.149167586053	0.16817	0.271067947149	0.06281	T	0.121596	0.44467	T	-0.194226	0.21639	T	-0.516769	0.20622	T	0.0746878460049629	0.09294	T	0.60264	0.22576	T	0.06687306	0.14429	0.04191142	0.04870	0.06687306	0.14429	0.04191142	0.04870	-4.395	0.29489	T	.	.	0.106	0.19720	B	.	.	0.547365	0.09157	5.942	0.36715842428115708	0.02377	0.06566	0.12580	N	AEFBI	0.061408	0.11738	N	-1.30471918549485	0.03621	0.1620578	-1.29537821251235	0.04493	0.2120394	0.729658486604041	0.23029	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.22	-1.38	0.08554	-1.260000	0.02967	-2.964000	0.03187	-0.218000	0.08083	0.004000	0.16614	0.000000	0.08366	0.312000	0.24784	0.2442:0.2523:0.3582:0.1453	2.216	0.03717	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	8407.43	102	chr4	140563138	.	C	G	8407.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.724e+00;DP=2172;ExcessHet=43.6797;FS=230.605;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=4.60;ReadPosRankSum=-5.480e-01;SOR=12.975	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,44:106:99:0|1:140563137_C_G:689,0,1629:140563137	1	0	20	0
chr4	143697457	143697457	G	0	exonic	FREM3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	94707.57	120	chr4	143697457	.	G	C,*	94707.57	.	AC=41,1;AF=0.976,0.024;AN=42;DP=2969;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=60.00;QD=32.86;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,148,0:148:99:.:.:4582,444,0,4582,444,4582	0	20	0	0
chr4	146639314	146639314	-	GGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGC:p.G68_R69insG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs772231658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	0/1:25,14,0,0,0:39:99:412,0,876,488,918,1406,488,918,1406,1406,488,918,1406,1406,1406	0	10	4	0
chr4	146639314	146639314	-	GGCGGCGGCGGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGCGGCGGCGGC:p.G68_R69insGGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	0/1:25,14,0,0,0:39:99:412,0,876,488,918,1406,488,918,1406,1406,488,918,1406,1406,1406	0	10	4	0
chr4	146639314	146639314	-	GGCGGCGGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGCGGCGGC:p.G68_R69insGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	0/1:25,14,0,0,0:39:99:412,0,876,488,918,1406,488,918,1406,1406,488,918,1406,1406,1406	0	10	4	0
chr4	154366329	154366329	G	A	exonic	DCHS2	.	nonsynonymous SNV	DCHS2:NM_001142552:exon3:c.C2357T:p.P786L	.	.	11	1492	19	0	0	19	0.00632701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.461	P	0.335	B	0.000	D	1.000	D	1.475	L	0.23	T	-0.755	T	0.203	T	0.31	3.139	16.49	4.98	1.472	6.993	14.610	0.252	0.022935540165	.	.	0.0003	0	0	0.0001	0	0.0001	0	0.0016	0.0002458	38	154602	rs776121940	0.0001	0.0001	7.215e-05	0.0002	0.0017	0.0001	0.0001	0.0013	0.0013	0	6.709e-05	0	2.52e-05	1.872e-05	0.0017	2.248e-05	0.0002	0.0016	7.237e-05	7.224e-05	3.858e-05	0.0001	0.0012	3.976e-05	3.131e-05	0.0005	0.0004	0	0	6.551e-05	0	0	9.43e-05	0	4.412e-05	0	0.0012	0.056	0.38185	T	0.47	0.12246	T	.	.	.	.	.	.	0.000025	0.55875	D	0.000000	0.994405	0.58761	D	.	.	.	0.23	0.59717	T	-7.39	0.94729	D	0.257	0.29081	-0.7546	0.57694	T	0.203	0.56073	T	10	0.04729852	0.04030	T	0.022936	0.45870	T	0.252	0.56159	.	.	0.572487460518	0.56915	0.14732694719053407	0.14654	0.083602548592	0.09429	0.418002486229	0.27562	T	.	.	.	-0.363034	0.03962	T	-0.324328	0.42098	T	0.211391301806368	0.21026	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.09917	B	.;.	.;.	3.680329	0.52381	23.2	0.99692421900675798	0.80044	0.97921	0.78139	D	AEFI	0.761082	0.69891	D	0.0879980630607209	0.45905	2.839226	0.164841798287514	0.47934	3.016299	0.999999974898402	0.74766	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.82	4.98	0.65679	6.911000	0.75569	7.540000	0.60069	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0705:0.0:0.9295:0.0	14.610	0.68104	849	0.35778	Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1485.98	35	chr4	154366329	.	G	A	1485.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.643;DP=814;ExcessHet=0.0000;FS=4.965;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.57;ReadPosRankSum=-1.380e-01;SOR=0.817	GT:AD:DP:GQ:PL	0/1:45,57:102:99:1500,0,1056	20	0	1	0
chr4	162111346	162111346	C	G	exonic	FSTL5	.	nonsynonymous SNV	FSTL5:NM_001128427:exon2:c.G51C:p.E17D	.	.	432	1073	14	3	0	20	0.00923361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.0	B	0.001	B	0.504	N	1.000	N	0	N	-0.65	T	-1.046	T	0.083	T	0.121	-0.414	2.069	-2.26	-0.753	-0.188	4.400	0.090	0.0171719240118	0.0040	0.000798722	0.0035	0.0007	0.0016	0	0.0008	0.0056	0.0066	0.0008	0.0034928	540	154602	rs140747357	0.0046	0.0046	0.0046	0.0045	0.0092	0.0045	0.0044	0.0072	0.0065	0.0005	0.0014	0.0004	7.573e-05	0.0011	0.0092	0.0055	0.0039	0.0014	0.0029	0.0029	0.0031	0.0028	0.0049	0.0027	0.0026	0.0045	0.0043	0.0008	0	0.0028	0	0	0.0011	0.0034	0.0049	0.0038	0.0031	0.593	0.05755	T	0.622	0.07394	T	0.0	0.02946	B	0.0	0.01387	B	0.503598	0.11922	N	0.753644	1	0.08975	N	-0.69	0.01958	N	-0.66	0.72568	T	-0.28	0.11547	N	0.125	0.18784	-1.0464	0.15418	T	0.083	0.32671	T	10	0.008194953	0.00186	T	0.017172	0.38759	T	0.090	0.26093	0.314	0.28935	0.624128296751	0.62107	0.3279983060525927	0.32712	0.0521985134838	0.05745	0.384419053793	0.22881	T	0.001312	0.00791	T	-0.558622	0.00259	T	-0.571473	0.15314	T	0.00988444441220362	0.00131	T	0.574842	0.20648	T	0.034992523	0.04035	0.039569393	0.04079	0.034992523	0.04034	0.039569393	0.04078	-4.205	0.26824	T	.	.	0.096	0.20625	B	.;.;.	.;.;.	-0.366743	0.02340	0.252	0.91303730862581245	0.20564	0.29548	0.23851	N	AEFDGHCI	0.124515	0.24061	N	-1.49883974374761	0.01859	0.08151322	-1.40741372545032	0.03177	0.1476865	0.00105930023220377	0.08170	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.51	-2.26	0.06478	-0.097000	0.11010	-0.780000	0.07458	-1.150000	0.01427	0.929000	0.32243	0.000000	0.08366	0.012000	0.09680	0.2402:0.3205:0.0:0.4394	4.400	0.10810	958	0.09170	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	891.98	35	chr4	162111346	.	C	G	891.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=812;ExcessHet=0.0000;FS=2.600;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.50;ReadPosRankSum=0.062;SOR=0.996	GT:AD:DP:GQ:PL	0/1:64,41:105:99:906,0,1459	20	0	1	0
chr4	164197531	164197531	G	T	exonic	ANP32C	.	nonsynonymous SNV	ANP32C:NM_012403:exon1:c.C181A:p.P61T,	.	.	435	1072	15	0	0	15	0.00694766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0071885	0.0048	9.619e-05	0.0003	0	0	5.993e-05	0.0022	0.0348	0.004075	630	154602	rs571268743	0.0021	0.0021	0.0011	0.0031	0.0338	0.0020	0.0020	0.0328	0.0324	5.982e-05	6.714e-05	0	2.521e-05	0	0.0012	3.239e-05	0.0017	0.0338	0.0010	0.0010	0.0004	0.0016	0.0308	0.0009	0.0008	0.0267	0.0252	0	0	0.0002	0	0	0	0	0	0	0.0308	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2598.98	177	chr4	164197531	.	G	T	2598.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.000e-01;DP=2977;ExcessHet=0.0000;FS=0.478;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.06;ReadPosRankSum=-7.200e-01;SOR=0.717	GT:AD:DP:GQ:PL	0/1:131,104:235:99:2613,0,3565	20	0	1	0
chr4	168898668	168898668	T	C	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001367567:exon4:c.T254C:p.M85T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.979	D	0.777	P	0.002	U	1.000	D	-0.545	N	1.65	T	-0.694	T	0.210	T	0.766	-0.222	2.926	5.55	2.107	6.186	15.690	0.279	0.0397687347451	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs781250247	2.07e-06	2.056e-06	4.124e-06	0	2.726e-06	5.5e-07	1.5e-07	7.3e-07	2e-07	0	0	0	0	0	0	2.726e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.12428	T	0.463	0.23707	T	.	.	.	.	.	.	0.001676	0.38326	U	0.000000	0.999968	0.81001	D	.	.	.	-0.55	0.71068	T	-2.21	0.72594	N	0.834	0.82964	-0.6935	0.60745	T	0.210	0.56933	T	10	0.30150113	0.47692	T	0.039769	0.58997	D	0.279	0.59619	.	.	0.641199583376	0.63823	0.5348204186873708	0.53407	0.808502915327	0.66620	0.717784404755	0.69723	T	0.08085	0.36460	T	0.141406	0.68459	D	-0.0346559	0.68059	D	0.576772583678845	0.35494	D	0.686731	0.31793	T	.	.	.	.	.	.	.	.	-8.267	0.67607	D	.	.	0.751	0.78309	P	.;.;.;.;.;.	.;.;.;.;.;.	4.050325	0.60035	24.2	0.84874175254793893	0.15549	0.97797	0.77204	D	AEFBI	0.776798	0.70979	D	0.146184386989402	0.48631	3.07305	0.269934385284283	0.53793	3.546451	0.99999999424337	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	6.167000	0.71757	6.181000	0.54632	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.742000	0.35507	0.0:0.0:0.0:1.0	15.690	0.77200	949	0.11373	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	209.61	37	chr4	168898668	.	T	C	209.61	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-3.488e+00;DP=1274;ExcessHet=0.6776;FS=85.472;InbreedingCoeff=-0.0993;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.59;ReadPosRankSum=0.512;SOR=9.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,18:88:99:0|1:168898668_T_C:129,0,2366:168898668	17	0	4	0
chr4	168898669	168898669	G	A	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001367567:exon4:c.G255A:p.M85I	.	.	.	.	.	.	.	.	.	.	.	1845107	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.476	P	0.223	B	0.002	U	1.000	D	1.65	L	1.58	T	-0.539	T	0.308	T	0.638	1.750	11.81	5.55	2.607	7.876	19.497	0.201	0.0305366275154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.841e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	0.21801	T	0.479	0.55759	T	.	.	.	.	.	.	0.001676	0.38326	U	0.000000	0.999973	0.81001	D	.	.	.	-0.62	0.71895	T	-1.59	0.56787	N	0.698	0.70263	-0.5390	0.67201	T	0.308	0.67867	T	10	0.359553	0.52621	T	0.030537	0.52827	D	0.201	0.48592	.	.	0.711221558017	0.70869	0.507454384894299	0.50667	0.790969623184	0.65777	0.635476946831	0.57922	T	0.084931	0.37388	T	0.0964953	0.63912	D	-0.0991676	0.63462	T	0.720881402492523	0.41743	D	0.822018	0.50309	T	.	.	.	.	.	.	.	.	-9.058	0.70411	D	.	.	0.834	0.80161	P	.;.;.;.;.;.	.;.;.;.;.;.	4.080126	0.60688	24.2	0.96356890166856102	0.29537	0.98354	0.81929	D	AEFBI	0.905065	0.85613	D	0.294826853967169	0.55886	3.752753	0.408467051562211	0.62091	4.418906	0.999999980908939	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	8.002000	0.88029	11.829000	0.97466	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.714000	0.34579	0.0:0.0:1.0:0.0	19.497	0.95071	949	0.11373	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	845.61	55	chr4	168898669	.	G	A	845.61	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.973e+00;DP=1311;ExcessHet=0.6776;FS=114.106;InbreedingCoeff=-0.0993;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=2.24;ReadPosRankSum=0.566;SOR=9.624	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,18:88:99:0|1:168898668_T_C:129,0,2366:168898668	17	0	4	0
chr4	177438816	177438816	A	C	exonic	AGA	.	nonsynonymous SNV	AGA:NM_000027:exon4:c.T436G:p.L146V	Aspartylglucosaminuria, Autosomal recessive	.	1	1511	9	1	0	11	0.00362677	.	.	414968	Intellectual_disability|Aspartylglucosaminuria|not_provided	Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|Human_Phenotype_Ontology:HP:0012068,MONDO:MONDO:0008830,MedGen:C0268225,OMIM:208400,Orphanet:93|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.998	D	0.996	D	0.000	D	1.000	D	3.27	M	-2.27	D	0.797	D	0.815	D	0.649	3.027	16.10	5.65	2.146	4.595	15.552	0.738	0.274625033147	0.0028	0.00139776	0.0009	0.0039	0.0010	0	0	0.0008	0.0022	0.0006	0.0008667	134	154602	rs146381591	0.0007	0.0008	0.0007	0.0007	0.0047	0.0007	0.0007	0.0037	0.0034	0.0042	0.0016	0.0010	2.52e-05	7.489e-05	0.0047	0.0006	0.0014	0.0011	0.0018	0.0018	0.0018	0.0017	0.0037	0.0016	0.0015	0.0032	0.0030	0.0037	0	0.0023	0.0012	0	0	0.0034	0.0009	0.0038	0.0019	0.002	0.72154	D	0.003	0.76473	D	0.998	0.73220	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.33	0.90841	M	-2.44	0.88767	D	-2.74	0.60827	D	0.512	0.54322	0.797	0.94369	D	0.815	0.93776	D	10	0.020604104	0.00478	T	0.274625	0.90008	D	0.738	0.90895	.	.	0.964155382141	0.96377	0.6346534917160205	0.63399	0.459209030653	0.45513	0.450321495533	0.31987	T	0.926547	0.98725	D	-0.0892466	0.38200	T	0.0985068	0.76810	D	0.79264372587204	0.45863	D	0.867613	0.56877	D	0.908475	0.92153	0.79925746	0.88223	0.9338456	0.94624	0.80734366	0.88732	-9.687	0.72017	D	0.7223833655274617	0.80355	0.323	0.61254	B	.;.	.;.	3.347657	0.46161	22.3	0.9982557451165236	0.90764	0.95774	0.66097	D	AEFBI	0.588661	0.58584	D	0.738165755648275	0.82133	7.687813	0.643458948439878	0.78123	6.813661	0.99046434075123	0.32162	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.65	5.65	0.86881	4.054000	0.57146	5.424000	0.48574	0.728000	0.85494	1.000000	0.71638	1.000000	0.68203	0.893000	0.43066	1.0:0.0:0.0:0.0	15.552	0.75902	960	0.08626	.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2293.98	40	chr4	177438816	.	A	C	2293.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.120e-01;DP=1024;ExcessHet=0.0000;FS=2.192;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.68;ReadPosRankSum=0.870;SOR=0.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,107:237:99:0|1:177438806_G_C:2308,0,3043:177438806	20	0	1	0
chr4	186250273	186250273	C	A	exonic	KLKB1	.	nonsynonymous SNV	KLKB1:NM_000892:exon7:c.C629A:p.A210E	Fletcher factor (prekallikrein) deficiency, Autosomal recessive	.	1	1514	7	0	0	7	0.00230643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.991	D	0.935	D	0.002	N	1.000	N	1.14	L	-2.33	D	-1.085	T	0.019	T	0.546	1.128	9.598	3.43	0.719	-0.500	8.632	0.010	.	0.0002	0.00638978	0.0043	0	0.0003	0.0371	0.0174	0.0010	0.0033	0.0007	0.0037192	575	154602	rs2278542	0.0021	0.0021	0.0021	0.0021	0.0463	0.0020	0.0020	0.0445	0.0438	0	0.0001	0	0.0463	0.0168	0.0010	0.0001	0.0026	0.0004	0.0027	0.0027	0.0018	0.0036	0.0334	0.0025	0.0024	0.0293	0.0278	0	0	0.0002	0	0.0334	0.0174	0	0.0006	0.0014	0.0008	0.21	0.19639	T	0.365	0.16717	T	.	.	.	.	.	.	0.002266	0.36887	N	0.179366	1	0.08975	N	.	.	.	-2.33	0.87910	D	-0.8	0.22078	N	0.118	0.10769	-1.0845	0.06498	T	0.019	0.07753	T	10	0.008751869	0.00198	T	.	.	.	0.388	0.70440	.	.	0.788275746721	0.78631	0.5364819353084724	0.53573	0.160567517049	0.18118	0.33969950676	0.16393	T	0.223368	0.58750	T	-0.296551	0.08990	T	-0.158525	0.58484	T	0.0351577803083767	0.02834	T	0.542746	0.18485	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.33133	B	.;.	.;.	-0.038594	0.04024	0.923	0.61457150814241379	0.06714	0.01066	0.03953	N	ALL	0.271477	0.38732	N	-0.520552436457076	0.21416	1.136399	-0.620235656550866	0.18973	1.015965	0.999999999114724	0.74766	0.730579	0.87903	0	0.573888	0.26702	0	0.749866	0.98131	0	0.564101	0.26826	0	.	.	5.21	3.43	0.38372	-0.358000	0.07692	-0.013000	0.13032	0.597000	0.34315	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.5028:0.4265:0.0:0.0706	8.632	0.33085	625	0.65529	.;PAN/Apple domain|PAN/Apple domain|Apple domain|Apple 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	0.02381	2830.98	41	chr4	186250273	.	C	A	2830.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.800;DP=1010;ExcessHet=0.0000;FS=2.542;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.15;ReadPosRankSum=-2.970e-01;SOR=0.895	GT:AD:DP:GQ:PL	0/1:90,110:200:99:2845,0,2112	20	0	1	0
chr5	7802241	7802241	C	G	exonic	ADCY2	.	nonsynonymous SNV	ADCY2:NM_020546:exon21:c.C2652G:p.D884E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.002	B	0.017	B	0.000	N	0.818	D	0.16	N	-1.49	T	-0.923	T	0.205	T	0.137	0.871	8.531	1.23	-0.074	0.309	7.217	0.235	0.0213026087819	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.09291	T	0.639	0.06992	T	0.001	0.07471	B	0.01	0.14941	B	0.000126	0.49741	N	0.171365	0.579165	0.34735	D	0.475	0.13142	N	-1.49	0.81235	T	-1.75	0.41428	N	0.152	0.15609	-0.9227	0.45182	T	0.205	0.56362	T	10	0.17686766	0.32692	T	0.021303	0.44047	T	0.235	0.53788	0.568	0.69034	0.58691828604	0.58366	0.8238682626487709	0.82343	1.27695066836	0.82430	0.617125332355	0.55322	T	0.338812	0.70804	T	-0.11883	0.33316	T	-0.408468	0.32402	T	0.511260449886322	0.33044	D	0.715328	0.32778	T	0.058896944	0.11905	0.061727434	0.11965	0.058896944	0.11904	0.061727434	0.11964	-2.252	0.04300	T	.	.	0.093	0.14201	B	.	.	1.506295	0.19358	14.22	0.94609705565612956	0.25178	0.84526	0.43608	D	AEFBI	0.225295	0.34940	N	-0.674830025897799	0.16740	0.8555798	-0.504235882927044	0.22037	1.195033	0.993558463280871	0.33262	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.24	1.23	0.20358	0.172000	0.16518	-0.137000	0.11557	0.549000	0.26987	0.973000	0.34540	0.401000	0.24711	0.986000	0.61781	0.2412:0.626:0.0:0.1328	7.217	0.25141	923	0.18507	Adenylyl cyclase class-3/4/guanylyl cyclase|Adenylyl cyclase class-3/4/guanylyl cyclase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1189.98	34	chr5	7802241	.	C	G	1189.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.510e-01;DP=778;ExcessHet=0.0000;FS=3.031;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.87;ReadPosRankSum=1.10;SOR=1.051	GT:AD:DP:GQ:PL	0/1:30,50:80:99:1204,0,667	20	0	1	0
chr5	13862657	13862657	C	T	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon29:c.G4687A:p.G1563S,	Ciliary dyskinesia, primary, 3, with or without situs inversus	.	0	1521	1	0	0	1	0.000328623	.	.	229265	not_specified|Primary_ciliary_dyskinesia	MedGen:CN169374|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.75	T	0.0	B	0.002	B	0.002	N	0.796	N	-0.68	N	0.24	T	-1.009	T	0.057	T	0.161	0.191	5.028	0.966	-0.116	1.716	8.822	0.038	0.0234755585125	0.0004	.	5.767e-05	0.0005	0	0	0	2.997e-05	0	0	5.17e-05	8	154602	rs147567352	8.141e-05	8.14e-05	7.895e-05	8.388e-05	0.0068	6.935e-05	6.487e-05	0.0051	0.0045	0.0003	2.236e-05	0	2.52e-05	0	0.0068	4.766e-05	0.0002	2.319e-05	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	8.726e-05	0.0002	0.0001	0.0003	0	6.546e-05	0	0	0	0.0034	0.0001	0.0005	0	0.716	0.03972	T	.	.	.	0.0	0.02946	B	0.002	0.06944	B	0.001716	0.38216	N	0.283508	0.796114	0.29169	N	-0.58	0.02282	N	0.24	0.59583	T	0.44	0.03243	N	0.232	0.26111	-1.0086	0.27354	T	0.057	0.23942	T	10	0.037656754	0.02134	T	0.023476	0.46442	T	0.038	0.09825	.	.	0.328222422547	0.32431	0.502698902418257	0.50191	0.47428696601	0.46618	0.302898943424	0.10834	T	0.089	0.38279	T	-0.433589	0.01410	T	-0.503113	0.22025	T	0.0293180822220719	0.01886	T	0.79872	0.44372	T	0.042985447	0.06620	0.065260574	0.13202	0.042985447	0.06619	0.065260574	0.13201	-3.437	0.15559	T	0.07093658895953635	0.02780	0.061	0.01161	B	.	.	1.446857	0.18675	13.86	0.83270078422978444	0.14634	0.80308	0.39980	D	AEFGI	0.281707	0.39521	N	-1.08533447782627	0.06913	0.3195997	-0.946294029932052	0.11009	0.558227	0.0163847638224937	0.12825	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.22	0.966	0.18786	1.763000	0.38090	0.319000	0.17164	-0.172000	0.11096	0.925000	0.32113	0.020000	0.20764	0.654000	0.32802	0.0:0.6529:0.0:0.3471	8.822	0.34191	756	0.51065	Dynein heavy chain, domain-2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	0.02381	1093.98	41	chr5	13862657	.	C	T	1093.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.392;DP=814;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.95;ReadPosRankSum=1.15;SOR=0.642	GT:AD:DP:GQ:PL	0/1:60,50:110:99:1108,0,1332	20	0	1	0
chr5	35646682	35646682	A	G	exonic	SPEF2	.	nonsynonymous SNV	SPEF2:NM_024867:exon5:c.A601G:p.R201G	.	.	436	1032	52	2	0	56	0.0264151	.	.	3185083	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.991	D	0.000	D	1.000	D	1.935	M	3.29	T	-0.972	T	0.104	T	0.772	3.738	18.98	5.76	2.209	4.892	11.533	0.128	.	0.0058	0.00878594	0.0089	0.0011	0.0049	0.0003	0.0018	0.0066	0.0122	0.0331	0.0081694	1263	154602	rs80010329	0.0081	0.0082	0.0073	0.0090	0.0339	0.0080	0.0080	0.0328	0.0324	0.0011	0.0066	0.0021	2.524e-05	0.0020	0.0295	0.0071	0.0077	0.0339	0.0059	0.0059	0.0057	0.0061	0.0312	0.0055	0.0054	0.0272	0.0256	0.0012	0.0033	0.0092	0.0023	0.0008	0.0011	0.0102	0.0075	0.0071	0.0312	0.007	0.61437	D	0.011	0.69154	D	0.999	0.77913	D	0.936	0.79672	D	0.000010	0.62929	D	0.106914	0.975574	0.39200	D	2.585	0.75554	M	2.44	0.23082	T	-4.01	0.76576	D	0.669	0.69125	-0.9723	0.36712	T	0.104	0.38144	T	10	0.0059509277	0.00133	T	.	.	.	0.128	0.35103	.	.	0.280181792013	0.27631	0.34883728264109054	0.34797	0.0598001417922	0.06652	0.390581935644	0.23751	T	0.126954	0.67848	T	-0.279306	0.10741	T	-0.149605	0.59278	T	0.0231520665780728	0.01041	T	0.890711	0.64723	D	0.26254478	0.49316	0.36515856	0.61870	0.26254478	0.49316	0.36515856	0.61870	-7.081	0.55796	T	.	.	0.324	0.58942	B	.;.;.;.;.;.	.;.;.;.;.;.	4.926798	0.81191	27.5	0.99854414740950403	0.93368	0.93860	0.59400	D	AEFI	0.746136	0.68860	D	0.686472731394631	0.78746	6.934124	0.683200252497875	0.81105	7.449289	0.988114933324361	0.31422	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.76	5.76	0.90726	5.017000	0.63813	11.264000	0.91177	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.8504:0.1496:0.0:0.0	11.533	0.49870	581	0.69614	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.09524	5285.9	33	chr5	35646682	.	A	G	5285.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.343;DP=929;ExcessHet=0.0082;FS=0.963;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=18.16;ReadPosRankSum=3.29;SOR=0.774	GT:AD:DP:GQ:PL	0/1:46,49:95:99:1186,0,1072	18	1	2	0
chr5	36976312	36976312	G	C	exonic	NIPBL	.	nonsynonymous SNV	NIPBL:NM_015384:exon9:c.G1405C:p.V469L	Cornelia de Lange syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.073	B	0.025	B	0.000	D	1.000	D	0.695	N	-3.35	D	0.043	D	0.661	D	0.555	3.882	19.73	5.58	2.641	9.439	19.567	0.343	0.0406808251233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.578e-06	6.568e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.011	0.55530	D	0.283	0.36365	T	0.043	0.24078	B	0.011	0.20508	B	0.000063	0.52346	D	0.128294	0.999708	0.48408	D	1.61	0.41143	L	-3.35	0.94022	D	-0.52	0.16187	N	0.585	0.60579	0.043	0.83110	D	0.661	0.88235	D	10	0.32050586	0.49425	T	0.040681	0.59509	D	0.343	0.66488	0.25	0.18757	0.879801803537	0.87862	0.410959878834727	0.41011	0.237173385282	0.26261	0.753291904926	0.74932	T	0.18814	0.54196	T	0.196373	0.73552	D	0.0442995	0.73208	D	0.69907339231432	0.40675	D	0.947805	0.79866	D	0.13591537	0.31528	0.17231335	0.39477	0.13591537	0.31527	0.17231335	0.39476	-4.229	0.27169	T	.	.	0.624	0.70897	P	.;.	.;.	4.008901	0.59128	24.1	0.99731517772583023	0.82833	0.99456	0.96256	D	AEFBI	0.873692	0.79619	D	0.100524658377244	0.46485	2.888287	0.32136463555838	0.56798	3.843655	0.999999999999868	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	9.567000	0.97303	11.883000	0.98886	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.567	0.95391	130	0.94779	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	663.75	81	chr5	36976312	.	G	C	663.75	.	AC=8;AF=0.333;AN=24;BaseQRankSum=-3.011e+00;DP=2556;ExcessHet=3.5521;FS=235.068;InbreedingCoeff=-0.4165;MLEAC=11;MLEAF=0.458;MQ=60.00;MQRankSum=0.00;QD=0.62;ReadPosRankSum=0.981;SOR=11.906	GT:AD:DP:GQ:PL	0/1:92,39:131:21:21,0,1436	4	0	8	9
chr5	37170046	37170046	C	T	exonic	CPLANE1	.	nonsynonymous SNV	CPLANE1:NM_001384732:exon33:c.G6457A:p.V2153I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.008	B	0.003	B	0.036	N	1.000	N	0.345	N	2.12	T	-0.986	T	0.018	T	0.025	0.947	8.861	-10.5	-2.744	-3.747	1.463	0.023	0.00349692539366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.731	0.05567	T	0.581	0.08476	T	.	.	.	.	.	.	0.035872	0.01809	N	2.443350	1	0.08975	N	.	.	.	2.1	0.19990	T	0.01	0.06868	N	0.025	0.00485	-0.9855	0.33711	T	0.018	0.07282	T	10	0.041775078	0.02864	T	0.003497	0.07939	T	0.023	0.04649	.	.	0.139678290688	0.13603	0.10105176826554894	0.10036	0.0968223062356	0.10928	.	.	.	0.003661	0.03070	T	-0.438668	0.01317	T	-0.867892	0.00762	T	0.0333228002209516	0.02524	T	0.347965	0.07682	T	0.01828383	0.00349	0.021377595	0.00191	0.01828383	0.00349	0.021377595	0.00191	-3.336	0.14206	T	0.08680809753495826	0.05035	0.067	0.02609	B	.;.;.	.;.;.	-2.677233	0.00021	0.001	0.3893574839801196	0.02656	0.00386	0.01946	N	AEFGBI	0.019330	0.00662	N	-1.95466604694145	0.00264	0.01133542	-2.05500373447474	0.00233	0.01028304	0.99999871181578	0.74766	0.562547	0.31514	0	0.546412	0.12157	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	5.25	-10.5	0.00234	-3.487000	0.00506	-3.229000	0.02952	-2.859000	0.00171	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1281:0.3175:0.2132:0.3413	1.463	0.02254	138	0.94518	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1355.98	34	chr5	37170046	.	C	T	1355.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.000e-03;DP=824;ExcessHet=0.0000;FS=0.795;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=0.170;SOR=0.586	GT:AD:DP:GQ:PL	0/1:53,52:105:99:1370,0,1404	20	0	1	0
chr5	73873160	73873160	A	G	exonic	ARHGEF28	.	nonsynonymous SNV	ARHGEF28:NM_001244364:exon14:c.A1789G:p.S597G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.389	B	0.245	B	.	.	0.995	N	0.895	L	-0.04	T	-0.921	T	0.165	T	0.111	2.231	13.42	0.874	0.316	2.064	10.488	0.052	0.0189356235642	.	.	2.76e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs762222036	6.847e-06	6.84e-06	4.086e-06	9.637e-06	0.0001	3.46e-06	2.52e-06	6.273e-05	4.777e-05	0	0	0	0	0	0	0	0	0.0001	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.15	0.27080	T	0.104	0.40909	T	0.032	0.34565	B	0.086	0.37304	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	-0.04	0.63240	T	-1.56	0.37759	N	0.27	0.34444	-0.9207	0.45458	T	0.165	0.50209	T	9	0.11604729	0.21881	T	0.018936	0.41162	T	0.052	0.14661	0.513	0.61153	0.48087575253	0.47718	0.18932101446363486	0.18850	0.134404463148	0.15136	0.420417070389	0.27892	T	0.02109	0.16485	T	-0.313942	0.07406	T	-0.484182	0.24004	T	0.201908469200134	0.20521	T	0.845015	0.52334	T	0.072153665	0.16029	0.10927493	0.26334	0.072153665	0.16029	0.10927493	0.26333	-7.616	0.58422	D	.	.	0.070	0.09723	B	.;.;.;.;.;.	.;.;.;.;.;.	2.384841	0.30617	18.49	0.99304566265075289	0.58759	0.52848	0.29229	D	AEFBI	0.084400	0.17104	N	-0.400872918459813	0.25438	1.380929	-0.353635937358655	0.26397	1.457752	0.865427517229668	0.25309	0.706548	0.73137	0	0.588015	0.36545	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.24	0.874	0.18260	1.656000	0.36971	3.376000	0.37968	0.756000	0.94297	0.801000	0.29734	0.988000	0.31051	0.994000	0.71098	0.6054:0.0:0.0:0.3946	10.488	0.43922	888	0.27761	.;.;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;.;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1339.98	33	chr5	73873160	.	A	G	1339.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.142e+00;DP=784;ExcessHet=0.0000;FS=2.542;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.76;ReadPosRankSum=-1.220e-01;SOR=0.458	GT:AD:DP:GQ:PL	0/1:51,54:105:99:1354,0,1437	20	0	1	0
chr5	74805156	74805156	C	A	exonic	FAM169A	.	nonsynonymous SNV	FAM169A:NM_001376054:exon3:c.G253T:p.A85S	.	.	.	.	.	.	.	.	.	0.9992	0.988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	B	0.083	B	0.447	N	1.000	D	0	N	0.92	T	-1.137	T	0.065	T	0.086	2.787	15.28	4.58	1.294	3.543	12.624	0.070	0.0402850786544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.306	0.15149	T	0.735	0.05072	T	0.372	0.34134	B	0.058	0.29179	B	0.447156	0.04794	N	1.372810	1	0.81001	D	2.125	0.59049	M	0.92	0.44461	T	-0.03	0.11185	N	0.213	0.39659	-1.1367	0.01486	T	0.065	0.26983	T	9	0.14202264	0.26980	T	0.040285	0.59291	D	0.070	0.20419	0.322	0.30226	0.043077524339	0.03247	0.222073533302892	0.22122	0.318642696755	0.34082	0.311269760132	0.12099	T	0.017988	0.14581	T	-0.23144	0.16458	T	-0.570224	0.15428	T	0.417106017450766	0.29584	T	0.69713	0.31362	T	0.09669352	0.22779	0.068991326	0.14478	0.09669352	0.22779	0.068991326	0.14477	-2.464	0.05540	T	.	.	0.080	0.09094	B	.;.	.;.	3.948797	0.57831	23.9	0.98826810215610128	0.46886	0.97727	0.76697	D	AEFBI	0.438496	0.49786	N	-0.119074110486977	0.36563	2.11508	0.0467275573755347	0.41914	2.526169	0.999496956525386	0.40007	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.542086	0.14980	0	.	.	5.45	4.58	0.56077	4.021000	0.56907	5.973000	0.52033	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.9197:0.0:0.0803	12.624	0.55977	427	0.81056	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1429.98	33	chr5	74805156	.	C	A	1429.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.700e-02;DP=801;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.54;ReadPosRankSum=0.356;SOR=0.631	GT:AD:DP:GQ:PL	0/1:51,63:114:99:1444,0,1097	20	0	1	0
chr5	75146001	75146001	A	G	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon14:c.T3410C:p.I1137T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	.	.	.	.	.	.	1.000	N	1.61	L	0.06	T	-0.973	T	0.133	T	0.568	0.412	6.238	-2.42	-0.580	-0.566	0.344	0.208	0.0320185438598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.067e-06	5.908e-05	3.014e-06	3.121e-06	3.869e-06	7.2e-07	4.8e-07	9.1e-07	6.1e-07	0	0	0	0	0	0	3.869e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.08	0.76473	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.705	0.44259	L	0.06	0.61798	T	0.5	0.02945	N	0.144	0.33904	-0.9725	0.36670	T	0.133	0.44622	T	7	0.07310486	0.11001	T	0.032019	0.53954	D	0.208	0.49714	0.399	0.42753	0.0666544352282	0.05500	0.1179940654002401	0.11726	.	.	0.431646108627	0.29434	T	6.79E-4	0.00299	T	-0.0895452	0.38151	T	-0.366402	0.37308	T	0.0622141301128149	0.07513	T	0.622038	0.23930	T	0.046649564	0.07844	0.065477386	0.13277	0.046649564	0.07844	0.065477386	0.13277	-3.908	0.22423	T	.	.	0.159	0.35204	B	.;.	.;.	-0.613964	0.01534	0.099	0.95776924258942753	0.27794	0.03341	0.08421	N	AEFI	0.072667	0.14510	N	-0.919827703521214	0.10379	0.4956785	-1.06350639893966	0.08427	0.4143377	9.32791732047118E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.14	-2.42	0.06164	-1.019000	0.03733	-0.266000	0.10387	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.627000	0.32078	0.406:0.1456:0.1685:0.28	0.344	0.00315	845	0.36510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2381	835.18	74	chr5	75146001	.	A	G	835.18	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-2.826e+00;DP=1745;ExcessHet=6.1002;FS=93.999;InbreedingCoeff=-0.2987;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=1.04;SOR=11.037	GT:AD:DP:GQ:PL	0/1:72,15:87:90:90,0,1579	11	0	10	0
chr5	80158899	80158899	C	G	exonic	SERINC5	.	nonsynonymous SNV	SERINC5:NM_001174071:exon8:c.G923C:p.R308T	.	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.013	B	0.005	B	0.001	D	0.997	N	-0.09	N	2.59	T	-0.944	T	0.014	T	0.221	-0.356	2.318	2.95	0.795	0.324	7.777	0.016	0.00471219559533	.	.	2.485e-05	0	0	0	0	1.499e-05	0	0.0001	1.94e-05	3	154602	rs751889867	2.395e-05	2.394e-05	1.089e-05	3.714e-05	0.0003	1.739e-05	1.539e-05	0.0002	0.0001	0	0	0	0	0	0.0002	8.996e-06	3.314e-05	0.0003	6.568e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.621	0.05293	T	0.633	0.08419	T	0.001	0.07471	B	0.002	0.06944	B	0.000946	0.40932	D	0.304517	0.99664	0.22952	N	0.11	0.08516	N	2.59	0.13317	T	0.7	0.02163	N	0.362	0.45237	-0.9439	0.41992	T	0.014	0.05657	T	10	0.06340161	0.08253	T	0.004712	0.11722	T	0.016	0.02506	.	.	0.132336055621	0.12781	0.4776577084343152	0.47685	.	.	0.317820012569	0.13091	T	.	.	.	-0.468125	0.00873	T	-0.614013	0.11661	T	0.041159063577652	0.03901	T	0.806219	0.45479	T	.	.	.	.	.	.	.	.	-4.998	0.36819	T	.	.	0.125	0.27100	B	.;.	.;.	1.373139	0.17837	13.40	0.34569254475273048	0.02122	0.54911	0.29732	D	AEFGBI	0.087951	0.17832	N	-0.711448114108186	0.15700	0.793482	-0.487321586466185	0.22501	1.222504	0.9706915911202	0.29227	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.668105	0.65232	0	.	.	5.88	2.95	0.33285	0.622000	0.24127	0.550000	0.19412	-0.266000	0.06809	0.997000	0.40164	0.877000	0.27660	0.985000	0.61073	0.0:0.4901:0.368:0.1419	7.777	0.28205	670	0.60992	.;.	.	.	.	.	.	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	0.02381	1179.98	34	chr5	80158899	.	C	G	1179.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.69;DP=839;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.43;ReadPosRankSum=-2.600e-02;SOR=0.650	GT:AD:DP:GQ:PL	0/1:88,52:140:99:1194,0,1997	20	0	1	0
chr5	83520371	83520371	A	G	exonic	VCAN	.	nonsynonymous SNV	VCAN:NM_001164098:exon7:c.A2065G:p.T689A	Wagner syndrome 1, Autosomal dominant	.	4	1473	43	2	0	47	0.0157033	.	.	304794	Vitreoretinopathy|not_provided|Wagner_syndrome	Human_Phenotype_Ontology:HP:0000655,Human_Phenotype_Ontology:HP:0007773,MONDO:MONDO:0020248,MedGen:C0344290|MedGen:C3661900|Human_Phenotype_Ontology:HP:0030673,MONDO:MONDO:0007740,MedGen:C1840452,OMIM:143200,Orphanet:898	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.38	T	0.433	B	0.084	B	0.165	N	1.000	N	2.015	M	1.79	T	-1.062	T	0.026	T	0.044	-0.761	0.784	1.58	0.336	1.202	7.401	0.030	.	0.0076	0.00319489	0.0101	0.0023	0.0053	0	0.0271	0.0138	0.0089	0.0014	0.0095536	1477	154602	rs61754531	0.0091	0.0091	0.0090	0.0091	0.0175	0.0089	0.0089	0.0148	0.0137	0.0011	0.0051	0.0254	2.521e-05	0.0202	0.0175	0.0094	0.0101	0.0012	0.0086	0.0086	0.0081	0.0091	0.0107	0.0082	0.0081	0.0100	0.0098	0.0017	0.0230	0.0056	0.0274	0	0.0267	0.0238	0.0107	0.0109	0.0010	0.003	0.68238	D	0.251	0.23638	T	0.307	0.35643	B	0.038	0.29270	B	0.164934	0.17547	N	0.518499	1	0.08975	N	1.895	0.50365	L	1.79	0.25509	T	-1.47	0.35991	N	0.188	0.29889	-1.0623	0.11190	T	0.026	0.11131	T	10	0.0031641722	0.00053	T	.	.	.	0.030	0.07022	.	.	0.369524611565	0.36568	0.29958484737824154	0.29871	0.136464565353	0.15394	0.306628972292	0.11397	T	0.359068	0.72553	T	-0.630544	0.00095	T	-0.668121	0.07729	T	0.0110454887037031	0.00160	T	0.442656	0.12286	T	0.091377296	0.21410	0.11340915	0.27369	0.101171635	0.23896	0.095790066	0.22733	-4.656	0.32867	T	.	.	0.108	0.20625	B	.;.;.	.;.;.	0.869887	0.12427	8.961	0.82936663259159105	0.14454	0.11416	0.16619	N	AEFBI	0.055585	0.10205	N	-0.688813482016063	0.16339	0.831579	-0.790199770192224	0.14735	0.7714853	0.990387283956843	0.32135	0.553676	0.25195	0	0.588015	0.36545	0	0.575934	0.27490	0	0.413926	0.06862	2	.	.	4.03	1.58	0.22557	1.185000	0.31675	3.497000	0.38753	0.756000	0.94297	0.001000	0.13787	0.991000	0.31484	0.010000	0.09038	0.7289:0.0:0.2711:0.0	7.401	0.26133	956	0.09877	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	1590.98	42	chr5	83520371	.	A	G	1590.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.256;DP=951;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.93;ReadPosRankSum=1.39;SOR=0.671	GT:AD:DP:GQ:PL	0/1:63,60:123:99:1605,0,1765	20	0	1	0
chr5	102270770	102270770	G	A	exonic	SLCO4C1	.	nonsynonymous SNV	SLCO4C1:NM_180991:exon3:c.C656T:p.T219I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.038	B	0.103	B	0.114	N	1.000	N	1.31	L	1.09	T	-1.022	T	0.093	T	0.197	1.681	11.58	-1.11	0.028	-0.721	2.952	0.013	0.0115028280006	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175652348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.32e-05	1.315e-05	1.289e-05	1.352e-05	1.472e-05	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.472e-05	0.0005	0	0.142	0.25457	T	0.256	0.23298	T	0.038	0.21002	B	0.103	0.30945	B	0.114133	0.02666	N	1.718550	1	0.08975	N	1.27	0.32069	L	1.09	0.39223	T	-2.68	0.57275	D	0.157	0.16308	-1.0216	0.23195	T	0.093	0.35336	T	10	0.06457871	0.08585	T	0.011503	0.29187	T	0.013	0.01715	0.505	0.59924	0.104622674875	0.10061	0.2586394306084872	0.25777	0.0495080261756	0.05423	0.311373412609	0.12114	T	0.040704	0.25615	T	-0.240781	0.15248	T	-0.583642	0.14221	T	0.113470774417171	0.13780	T	0.229177	0.03066	T	0.07753631	0.17604	0.073808745	0.16079	0.07753631	0.17604	0.073808745	0.16078	-4.183	0.26505	T	.	.	0.078	0.06663	B	.	.	0.696501	0.10651	7.351	0.97305176174551633	0.33299	0.03945	0.09343	N	AEFBI	0.071942	0.14339	N	-1.05011044505534	0.07585	0.3528671	-1.09197903977378	0.07857	0.3839092	0.0203658458362758	0.13251	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.72	-1.11	0.09336	-0.445000	0.06918	-0.879000	0.07072	-0.667000	0.04321	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.1348:0.1105:0.3048:0.4499	2.952	0.05506	344	0.85734	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.0625	201.76	54	chr5	102270770	.	G	A	201.76	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-2.034e+00;DP=995;ExcessHet=0.1072;FS=80.571;InbreedingCoeff=-0.1310;MLEAC=2;MLEAF=0.063;MQ=60.00;MQRankSum=0.00;QD=2.00;ReadPosRankSum=0.689;SOR=5.339	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,16:47:99:0|1:102270769_T_C:141,0,879:102270769	14	0	2	5
chr5	109817344	109817344	C	T	exonic	MAN2A1	.	nonsynonymous SNV	MAN2A1:NM_002372:exon13:c.C2015T:p.T672I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.054	B	0.158	B	0.264	N	1.000	N	1.995	M	-1.2	T	-0.751	T	0.312	T	0.181	1.090	9.450	-4.49	-0.548	-0.771	7.663	0.215	0.036237113627	7.7e-05	.	1.647e-05	0	0	0.0001	0	1.498e-05	0	0	1.29e-05	2	154602	rs368517284	3.42e-06	3.42e-06	1.361e-06	5.5e-06	0.0003	1e-06	7.3e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387	0.10945	T	0.389	0.15554	T	0.054	0.22658	B	0.158	0.34617	B	0.264304	0.15252	N	0.673899	1	0.08975	N	2.19	0.61577	M	-1.2	0.78537	T	-1.98	0.45769	N	0.242	0.27316	-0.7513	0.57867	T	0.312	0.68264	T	10	0.094646096	0.16845	T	0.036237	0.56862	D	0.215	0.50805	.	.	0.430239905395	0.42638	0.20710060426472962	0.20626	0.152093685501	0.17161	0.283849716187	0.08035	T	0.431193	0.77940	T	-0.301623	0.08507	T	-0.406608	0.32617	T	0.0694270460101089	0.08570	T	0.582642	0.21138	T	0.025919793	0.01585	0.029899042	0.01381	0.025919793	0.01584	0.029899042	0.01381	-6.194	0.47874	T	.	.	0.130	0.27762	B	.	.	0.799827	0.11705	8.284	0.64981534647699946	0.07644	0.02424	0.06845	N	AEFBI	0.031769	0.03460	N	-1.30778881799642	0.03585	0.1604207	-1.42195987507989	0.03033	0.1407236	0.364567354037591	0.19810	0.732398	0.92422	0	0.653731	0.59785	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.24	-4.49	0.03257	-0.646000	0.05501	-2.446000	0.03744	-0.932000	0.02141	0.000000	0.06391	0.000000	0.08366	0.278000	0.23967	0.666:0.1402:0.1236:0.0702	7.663	0.27580	747	0.52260	Glycosyl hydrolase family 38, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1413.98	38	chr5	109817344	.	C	T	1413.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.786e+00;DP=817;ExcessHet=0.0000;FS=2.362;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=1.95;SOR=0.495	GT:AD:DP:GQ:PL	0/1:52,66:118:99:1428,0,1221	20	0	1	0
chr5	113488342	113488342	-	GCC	exonic	MCC	.	nonframeshift insertion	MCC:NM_001085377:exon1:c.72_73insGGC:p.S24_S25insG,	Colorectal cancer, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0051	0.0015	0.0020	0	0.0005	0.0020	0.0044	0.0021345	330	154602	rs775732898	0.0008	0.0011	0.0009	0.0008	0.0099	0.0008	0.0008	0.0089	0.0085	0.0099	0.0024	0.0002	9.69e-05	0.0001	0.0026	0.0006	0.0016	0.0006	0.0034	0.0034	0.0034	0.0034	0.0095	0.0032	0.0031	0.0087	0.0084	0.0095	0	0.0045	0	0.0006	9.529e-05	0.0103	0.0006	0.0043	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	55421.17	118	chr5	113488342	.	T	C,TGCTGCTGCC,TGCC	55421.17	.	AC=27,7,1;AF=0.643,0.167,0.024;AN=42;BaseQRankSum=-1.446e+00;DP=2966;ExcessHet=2.5830;FS=1.369;InbreedingCoeff=-0.2000;MLEAC=27,7,1;MLEAF=0.643,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=21.98;ReadPosRankSum=-1.100e-02;SOR=0.803	GT:AD:DP:GQ:PL	1/1:0,137,0,0:137:99:3952,411,0,3952,411,3952,3952,411,3952,3952	0	7	7	0
chr5	113488351	113488351	-	GCCGCTGCC	exonic	MCC	.	nonframeshift insertion	MCC:NM_001085377:exon1:c.63_64insGGCAGCGGC:p.G21_S22insGSG,	Colorectal cancer, somatic	.	0	73	103	46	4	199	0.571848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3783	.	0.0057	0	0	0.0032	0	0.0008	0	0.0260	0.0009989	26	26028	rs531679771	0.0043	0.0048	0.0037	0.0049	0.0326	0.0042	0.0042	0.0314	0.0310	0.0004	0.0013	0.0091	0.0236	0.0006	0.0039	0.0021	0.0049	0.0326	0.0037	0.0038	0.0029	0.0045	0.0508	0.0035	0.0034	0.0456	0.0436	0.0008	0	0.0018	0.0098	0.0124	0.0004	0	0.0022	0.0048	0.0508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	37732.13	76	chr5	113488351	.	T	TGCC,TGCCGCTGCC	37732.13	.	AC=22,1;AF=0.524,0.024;AN=42;BaseQRankSum=0.319;DP=2449;ExcessHet=5.5923;FS=0.563;InbreedingCoeff=-0.2494;MLEAC=22,1;MLEAF=0.524,0.024;MQ=60.00;MQRankSum=0.00;QD=25.19;ReadPosRankSum=0.315;SOR=0.655	GT:AD:DP:GQ:PL	1/1:0,84,0:84:99:3561,251,0,3562,252,3564	3	5	12	0
chr5	115580599	115580599	T	C	exonic	TICAM2;TMED7-TICAM2	.	nonsynonymous SNV	TICAM2:NM_021649:exon2:c.A658G:p.T220A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.384	N	1.000	N	-1.65	N	2.09	T	-0.939	T	0.012	T	0.05	-0.284	2.643	-4.36	-0.676	-0.460	9.008	0.027	0.00595795783626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.81	0.03036	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.383856	0.04437	N	1.396550	1	0.08975	N	-1.59	0.00435	N	2.09	0.20122	T	0.68	0.02228	N	0.024	0.00445	-0.9394	0.42711	T	0.012	0.04558	T	10	0.017624646	0.00378	T	0.005958	0.15549	T	0.027	0.05988	0.226	0.15109	0.0297737177859	0.01360	0.044812832775326425	0.19928	0.0133040703141	0.01281	0.297955036163	0.10097	T	0.07029	0.33924	T	-0.387825	0.02778	T	-0.79486	0.02034	T	0.0150233978706084	0.00323	T	0.457954	0.13172	T	0.033627365	0.03618	0.037794814	0.03509	0.033627365	0.03617	0.037794814	0.03509	-3.24	0.12976	T	.	.	0.068	0.02861	B	.;.	.;.	0.067823	0.04772	1.388	0.27057352067857121	0.01325	0.00568	0.02578	N	AEFBI	0.026024	0.01882	N	-1.44889113419238	0.02226	0.09804379	-1.34056170397608	0.03918	0.1837691	0.999952877860144	0.48110	0.615465	0.37627	0	0.522029	0.08744	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.92	-4.36	0.03392	-0.445000	0.06918	0.071000	0.14262	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.985000	0.61073	0.1458:0.6303:0.0:0.2239	9.008	0.35286	810	0.42761	.;Toll/interleukin-1 receptor homology (TIR) 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	1	0	0	0	0.02381	1450.98	36	chr5	115580599	.	T	C	1450.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=812;ExcessHet=0.0000;FS=2.489;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.19;ReadPosRankSum=-5.270e-01;SOR=0.479	GT:AD:DP:GQ:PL	0/1:53,57:110:99:1465,0,1332	20	0	1	0
chr5	115841518	115841518	G	T	exonic	ATG12	.	nonsynonymous SNV	ATG12:NM_001277783:exon1:c.C35A:p.P12H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.909	D	0.010	N	0.930	N	1.95	M	.	.	-0.937	T	0.175	T	0.26	2.953	15.84	3.14	2.261	2.642	6.939	0.077	0.00327444657065	.	0.000199681	1.649e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs535376486	6.162e-06	6.156e-06	1.362e-06	1.101e-05	0.0002	2.9e-06	2.1e-06	2.996e-05	2.038e-05	0	0	0	0	0	0.0002	0	3.315e-05	6.959e-05	6.568e-06	6.562e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.01	0.78490	D	0.007	0.92824	D	0.999	0.77913	D	0.909	0.64565	D	0.010104	0.30062	N	0.283305	0.930141	0.27078	N	2.2	0.62015	M	.	.	.	-1.21	0.97728	N	0.504	0.64733	-0.9366	0.43149	T	0.175	0.51848	T	9	0.3036452	0.47894	T	0.003274	0.07237	T	0.077	0.22490	.	.	0.455996456696	0.45225	0.5460114773860473	0.54527	0.00754321573307	0.00664	0.468965858221	0.34537	T	0.028411	0.20589	T	-0.160631	0.26663	T	-0.286984	0.46085	T	0.927326679229736	0.59011	D	0.708829	0.31953	T	0.07609504	0.17187	0.09399296	0.22228	0.07609504	0.17187	0.09399296	0.22227	-5.995	0.46238	T	.	.	0.119	0.40937	B	.;.	.;.	2.390651	0.30700	18.52	0.99340462855102751	0.60170	0.33402	0.24819	N	ALL	0.130850	0.24956	N	0.107959331794254	0.46833	2.917769	-0.0789800356170883	0.36260	2.10796	0.999999999999739	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.02	3.14	0.35196	3.513000	0.53172	3.365000	0.37889	0.672000	0.70159	0.704000	0.28664	0.984000	0.30665	0.032000	0.13371	0.1214:0.0:0.8786:0.0	6.939	0.23662	917	0.20147	.;.	.	.	.	.	.	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	0.02381	1414.98	36	chr5	115841518	.	G	T	1414.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.268e+00;DP=895;ExcessHet=0.0000;FS=1.523;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.63;ReadPosRankSum=0.562;SOR=0.870	GT:AD:DP:GQ:PL	0/1:48,64:112:99:1429,0,1086	20	0	1	0
chr5	119499449	119499449	T	C	exonic	HSD17B4	.	nonsynonymous SNV	HSD17B4:NM_001199292:exon12:c.T1051C:p.S351P	D-bifunctional protein deficiency, Autosomal recessive;Perrault syndrome 1, Autosomal recessive	.	2	1519	1	0	0	1	0.000329056	.	.	586310	HSD17B4-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.26	T	0.003	B	0.004	B	0.207	N	0.988	N	0.55	N	-1.75	D	-0.897	T	0.264	T	0.158	2.319	13.71	-0.052	0.043	0.698	4.261	0.119	0.0202688819982	.	.	1.649e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs781084978	3.496e-05	0.0004	3.764e-05	3.226e-05	0.0002	2.69e-05	2.427e-05	2.903e-05	2.574e-05	6.084e-05	0	0	2.53e-05	0	0.0002	3.878e-05	1.684e-05	3.505e-05	1.314e-05	1.313e-05	2.57e-05	0	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.242	0.22312	T	0.221	0.33109	T	0.001	0.11197	B	0.004	0.10090	B	0.207218	0.16453	N	0.644539	0.998062	0.24425	N	0.475	0.13142	N	-1.75	0.83495	D	-1.61	0.39314	N	0.175	0.23380	-0.8970	0.48293	T	0.264	0.63501	T	10	0.10314271	0.18945	T	0.020269	0.42829	T	0.119	0.33137	0.362	0.36711	0.824880002343	0.82322	0.5836028072308838	0.58289	0.0727130368711	0.08147	0.366561591625	0.20337	T	0.11293	0.42958	T	-0.102227	0.36054	T	-0.320973	0.42469	T	0.054950729434631	0.06349	T	0.766723	0.42712	T	0.19631228	0.41454	0.13157105	0.31591	0.19631228	0.41454	0.13157105	0.31590	-2.563	0.06901	T	0.09032067692630434	0.05612	0.076	0.05845	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.009926	0.25536	16.80	0.98932034170165739	0.48769	0.68143	0.33691	D	AEFBI	0.580553	0.58092	D	-0.52650164453884	0.21227	1.124927	-0.381430793229907	0.25551	1.40583	0.0673286344376866	0.15422	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.49	-0.052	0.13154	0.865000	0.27595	1.506000	0.26990	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1112:0.0816:0.4962:0.311	4.261	0.10188	920	0.19381	N-terminal of MaoC-like dehydratase;.;N-terminal of MaoC-like dehydratase;.;.;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	785.45	37	chr5	119499449	.	T	C	785.45	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-2.748e+00;DP=1279;ExcessHet=2.5830;FS=149.385;InbreedingCoeff=-0.1971;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=1.39;ReadPosRankSum=1.58;SOR=9.940	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,22:85:62:0|1:119499447_G_C:62,0,2000:119499447	14	0	7	0
chr5	129461200	129461200	G	A	exonic	ADAMTS19	.	nonsynonymous SNV	ADAMTS19:NM_133638:exon2:c.G190A:p.A64T,	.	.	433	996	89	4	0	97	0.0464337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	B	0.012	B	0.357	N	1.000	N	0	N	-0.17	T	-1.059	T	0.042	T	0.194	1.982	12.58	-2.57	-0.549	0.697	8.352	0.042	.	.	0.00798722	0.0423	0	0	0	.	0.0098	0	0.0556	0.0023738	367	154602	rs149861653	0.0092	0.0086	0.0086	0.0098	0.0419	0.0090	0.0090	0.0401	0.0394	0.0019	0.0113	0.0262	3.704e-05	0.0008	0.0326	0.0081	0.0115	0.0419	0.0070	0.0070	0.0071	0.0069	0.0318	0.0067	0.0065	0.0277	0.0261	0.0024	0.0077	0.0077	0.0274	0.0008	0.0002	0.0171	0.0083	0.0090	0.0318	.	.	.	.	.	.	0.203	0.29776	B	0.012	0.16012	B	0.356684	0.13733	N	0.540328	0.999988	0.18198	N	0.345	0.11182	N	.	.	.	.	.	.	.	.	-1.0592	0.11956	T	0.042	0.18118	T	9	0.0025759041	0.00039	T	.	.	.	0.042	0.11227	.	.	.	.	0.14575235333896494	0.14498	1.40670516952	0.85333	0.89497846365	0.95864	D	0.004443	0.03847	T	-0.524688	0.00413	T	-0.462224	0.26357	T	0.00914668875011865	0.00115	T	0.557244	0.19380	T	0.06468684	0.13749	0.10315857	0.24744	0.06468684	0.13749	0.10315857	0.24744	-5.653	0.43273	T	.	.	0.088	0.11797	B	.;.	.;.	2.266258	0.28962	17.97	0.98187687496377318	0.39001	0.41712	0.26718	N	AEFDBHCI	0.075369	0.15133	N	-0.911132831483757	0.10581	0.5062969	-0.901174283232643	0.12066	0.6185421	0.999999553852746	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.239995	0.05000	1	0.554799	0.18163	0	.	.	3.49	-2.57	0.05885	0.749000	0.25985	3.328000	0.37603	0.498000	0.22619	0.997000	0.40164	1.000000	0.68203	0.829000	0.39076	0.0:0.3642:0.2657:0.3701	8.352	0.31471	721	0.55360	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	156.98	21	chr5	129461200	.	G	A	156.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.188e+00;DP=482;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.54;ReadPosRankSum=0.985;SOR=0.941	GT:AD:DP:GQ:PL	0/1:17,7:24:99:171,0,522	20	0	1	0
chr5	139887481	139887481	C	T	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G731A:p.S244N	.	.	.	.	.	.	.	.	.	.	.	2325350	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.28	T	0.106	B	0.102	B	0.001	N	0.755	D	0.35	N	1.58	T	-1.019	T	0.045	T	0.06	3.188	16.67	5.29	2.473	2.054	10.020	0.031	0.00739077046255	.	.	8.286e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs774596341	1.371e-06	1.369e-06	1.365e-06	1.378e-06	1.804e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.804e-06	0	0	6.59e-06	6.574e-06	0	1.35e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.184	0.23360	T	0.164	0.31026	T	0.087	0.26037	B	0.062	0.30857	B	0.000522	0.43581	N	0.227934	0.755028	0.33972	D	0.135	0.08676	N	1.58	0.29085	T	-0.32	0.21003	N	0.423	0.46274	-1.0194	0.23910	T	0.045	0.19518	T	10	0.22371674	0.39157	T	0.007391	0.19603	T	0.031	0.07369	0.366	0.37361	0.498748557451	0.49510	0.4556412808571356	0.45482	0.884494878246	0.69920	0.694656133652	0.66374	T	0.195255	0.55127	T	-0.302609	0.08415	T	-0.672453	0.07451	T	0.361964405132886	0.27486	T	0.79652	0.44558	T	0.08836372	0.20609	0.102840796	0.24660	0.08836372	0.20609	0.102840796	0.24659	-7.518	0.70016	D	.	.	0.221	0.45409	B	.;.;.;.;.;.	.;.;.;.;.;.	3.573511	0.50344	22.9	0.99603636505572957	0.74338	0.69576	0.34242	D	AEFBI	0.254283	0.37363	N	-0.162749740398921	0.34693	1.983396	0.0478054099699094	0.41967	2.53021	0.600115135775481	0.21718	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	5.29	0.74430	2.879000	0.48220	5.991000	0.52331	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.9072:0.0:0.0928	10.020	0.41207	21	0.98493	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2941	1317.98	74	chr5	139887481	.	C	T	1317.98	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-4.144e+00;DP=2291;ExcessHet=6.1002;FS=235.435;InbreedingCoeff=-0.3991;MLEAC=11;MLEAF=0.324;MQ=60.00;MQRankSum=0.00;QD=1.13;ReadPosRankSum=0.733;SOR=11.408	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,23:102:39:0|1:139887481_C_T:39,0,2483:139887481	7	0	10	4
chr5	139887483	139887483	C	G	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G729C:p.K243N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.928	P	0.653	P	0.001	D	0.844	D	1.37	L	-0.42	T	-0.572	T	0.250	T	0.143	3.573	18.21	1.49	-0.008	0.043	8.579	0.129	0.0404591134086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	0.0001	0	1.376e-06	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.61437	D	0.159	0.58089	T	0.355	0.51611	B	0.285	0.52567	B	0.000553	0.43413	D	0.190992	0.843543	0.35106	D	0.855	0.21307	L	-0.42	0.69536	T	-2.26	0.50502	N	0.611	0.62781	-0.5718	0.65943	T	0.250	0.61993	T	10	0.51356286	0.62236	D	0.040459	0.59387	D	0.129	0.35316	0.432	0.48171	0.770213433332	0.76810	0.7045747211234696	0.70399	1.82077106802	0.91947	0.807813405991	0.83157	D	0.308239	0.68034	T	-0.142554	0.29486	T	-0.442546	0.28523	T	0.832137286663055	0.48697	D	0.877812	0.59215	D	0.16882665	0.37363	0.1489359	0.35185	0.16882665	0.37363	0.1489359	0.35184	-8.046	0.70185	D	.	.	0.798	0.86783	P	.;.;.;.;.;.	.;.;.;.;.;.	3.258046	0.44540	22.0	0.99831464818289628	0.91284	0.76178	0.37342	D	AEFBI	0.317848	0.42172	N	-0.0410797527166822	0.40002	2.368239	-0.0277489813419687	0.38467	2.266707	0.00604997340288372	0.11113	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	1.49	0.21966	0.199000	0.17037	0.102000	0.14662	-0.182000	0.10109	0.995000	0.38783	0.922000	0.28345	0.994000	0.71098	0.0:0.6914:0.0:0.3086	8.579	0.32777	21	0.98493	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	1380.18	70	chr5	139887483	.	C	G,T	1380.18	.	AC=7,3;AF=0.184,0.079;AN=38;BaseQRankSum=-4.039e+00;DP=2146;ExcessHet=6.1002;FS=245.753;InbreedingCoeff=-0.3923;MLEAC=8,3;MLEAF=0.211,0.079;MQ=60.00;MQRankSum=0.00;QD=1.17;ReadPosRankSum=0.802;SOR=11.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,23,0:102:39:0|1:139887481_C_T:39,0,2483,273,2545,2818:139887481	9	0	7	2
chr5	140367479	140367479	G	A	exonic	SLC4A9	.	stopgain	SLC4A9:NM_001258427:exon14:c.G1884A:p.W628X	.	.	415	1104	3	0	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	.	.	.	.	0.084	N	1.000	A	.	.	.	.	.	.	.	.	.	5.693	36	4.12	1.446	-0.080	10.000	.	.	0.0004	.	0.0006	0	0.0001	0	0	0.0008	0	0.0011	0.0004722	73	154602	rs199786527	0.0005	0.0005	0.0005	0.0006	0.0016	0.0005	0.0005	0.0008	0.0007	5.997e-05	0.0002	0.0036	0	1.904e-05	0.0016	0.0005	0.0007	0.0009	0.0004	0.0004	0.0005	0.0004	0.0010	0.0004	0.0003	0.0005	0.0005	7.238e-05	0	0.0002	0.0020	0	0	0	0.0007	0.0014	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	0.083908	0.20727	N	0.414645	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.321	0.36148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239141	0.77581	D	0.495319	0.94515	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Recessive	.;.;.;High	7.736445	0.96812	36	0.99084910011399929	0.52051	0.80216	0.39913	D	AEFDGBHCI	0.323405	0.42561	N	0.78998023835392	0.85473	8.586926	0.603793813887194	0.75214	6.271281	0.999999995305313	0.74766	0.65861	0.49226	0	0.688826	0.66785	0	0.514364	0.09456	0	0.584449	0.35598	0	.	.	5.02	4.12	0.47504	0.132000	0.15716	.	.	0.676000	0.76740	0.988000	0.36536	1.000000	0.68203	0.985000	0.61073	0.0727:0.263:0.6643:0.0	10.000	0.41096	168	0.93464	.;.;.;Bicarbonate transporter, C-terminal	.	.	.	.	.	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	0.04762	1908.11	39	chr5	140367479	.	G	A	1908.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.195;DP=810;ExcessHet=0.1072;FS=0.685;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.35;ReadPosRankSum=0.722;SOR=0.591	GT:AD:DP:GQ:PL	0/1:41,38:79:99:1033,0,1140	19	0	2	0
chr5	141173765	141173765	G	C	exonic	PCDHB7	.	nonsynonymous SNV	PCDHB7:NM_018940:exon1:c.G930C:p.E310D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	N	3	M	-0.65	T	-0.346	T	0.537	D	0.586	2.417	14.04	-1.57	-0.340	0.442	10.905	0.474	0.202633084596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999782	0.20372	N	3.055	0.86842	M	-0.65	0.72237	T	-2.94	0.61435	D	0.544	0.57092	-0.3457	0.73678	T	0.537	0.82887	D	9	0.9353602	0.92867	D	0.202633	0.86831	D	0.474	0.76685	0.817	0.93127	0.794638162076	0.79272	0.2056605258777981	0.20483	0.542382466446	0.51350	0.462000310421	0.33585	T	0.126879	0.45355	T	0.0487642	0.58182	T	-0.16773	0.57650	T	0.970979869365692	0.69145	D	0.909209	0.67884	D	0.39501306	0.60385	0.42082992	0.66034	0.39501306	0.60386	0.42082992	0.66034	-11.333	0.81453	D	.	.	0.814	0.77941	P	.	.	2.079273	0.26445	17.12	0.996342216413029	0.76264	0.23594	0.22126	N	AEFDBI	0.227155	0.35101	N	0.0545368441754623	0.44352	2.710791	-0.191872681521743	0.31834	1.805331	0.0134669852051686	0.12468	0.554377	0.28877	0	0.573888	0.26702	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.61	-1.57	0.08055	0.632000	0.24273	.	.	0.676000	0.76740	0.107000	0.22934	0.000000	0.08366	0.938000	0.47775	0.5702:0.0:0.4298:0.0	10.905	0.46286	652	0.62785	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	69.11	136	chr5	141173765	.	G	C	69.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.822e+00;DP=1723;ExcessHet=0.1072;FS=310.904;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.19;ReadPosRankSum=0.985;SOR=8.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:159,25:194:44:.:.:44,0,4963	19	0	2	0
chr5	141303079	141303079	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787C:p.V263L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.001	B	0.941	N	1.000	N	-1.57	N	-1.1	T	-1.019	T	0.099	T	0.051	-1.282	0.042	-1.96	-0.413	0.139	0.421	0.146	0.00909780768334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.611e-06	0.0012	9.648e-06	5.557e-06	9.117e-06	4.08e-06	2.99e-06	4.61e-06	3.36e-06	0	0	3.841e-05	0	0	0	9.117e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.865	0.02639	T	0.669	0.06325	T	0.0	0.02946	B	0.001	0.04355	B	0.940851	0.07593	N	1.028430	0.99999	0.08975	N	-1.395	0.00601	N	-1.1	0.77336	T	0.91	0.01595	N	0.015	0.00181	-1.0189	0.24074	T	0.099	0.36957	T	10	0.04655108	0.03861	T	0.009098	0.23941	T	0.146	0.38789	0.353	0.35246	0.307966526162	0.30417	0.15140888837097558	0.15062	0.179086514007	0.20148	0.295074403286	0.09668	T	0.158211	0.50113	T	-0.262078	0.12658	T	-0.614233	0.11644	T	0.0472256252312583	0.05005	T	0.090191	0.00668	T	0.05519885	0.10696	0.03909303	0.03923	0.05519885	0.10696	0.03909303	0.03923	-0.632	0.00670	T	.	.	0.081	0.08129	B	.	.	0.911050	0.12853	9.367	0.29972271365944797	0.01616	0.36561	0.25561	N	AEFDBI	0.079883	0.16143	N	-1.27563492994376	0.03971	0.1783734	-1.17336112797431	0.06358	0.3057852	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4688	11030.59	183	chr5	141303079	.	C	G,T	11030.59	.	AC=13,2;AF=0.406,0.063;AN=32;BaseQRankSum=-5.525e+00;DP=4228;ExcessHet=17.4423;FS=211.915;InbreedingCoeff=-0.7194;MLEAC=15,2;MLEAF=0.469,0.063;MQ=60.00;MQRankSum=0.00;QD=3.63;ReadPosRankSum=0.978;SOR=13.406	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:168,16,19:203:41:.:.:405,41,6819,0,5670,5758	1	0	13	5
chr5	141303079	141303079	C	T	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787A:p.V263I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.021	B	0.039	B	0.941	N	1.000	N	0.65	N	-1.23	T	-0.928	T	0.215	T	0.091	-0.151	3.259	-1.96	-0.413	0.139	0.421	0.147	0.0182275345159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.492	0.07944	T	0.363	0.16815	T	0.021	0.18474	B	0.039	0.23607	B	0.940851	0.07593	N	1.028430	0.999997	0.08975	N	0.5	0.13406	N	-1.23	0.78860	T	0.06	0.06253	N	0.045	0.01740	-0.9283	0.44386	T	0.215	0.57626	T	10	0.071314245	0.10496	T	0.018228	0.40224	T	0.147	0.38986	0.339	0.32979	0.359557344763	0.35564	0.08275398820863436	0.08210	0.147289003395	0.16616	0.28638151288	0.08398	T	0.161028	0.50511	T	-0.18769	0.22597	T	-0.50738	0.21586	T	0.0446509129349204	0.04539	T	0.0730927	0.00533	T	0.038403146	0.05108	0.028814076	0.01154	0.038403146	0.05108	0.028814076	0.01154	-4.133	0.25775	T	.	.	0.080	0.07745	B	.	.	1.381003	0.17922	13.45	0.53492033685486196	0.04950	0.27226	0.23218	N	AEFDBI	0.033857	0.04094	N	-0.96113578187942	0.09444	0.4469869	-0.958533915171557	0.10726	0.542049	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	11030.59	183	chr5	141303079	.	C	G,T	11030.59	.	AC=13,2;AF=0.406,0.063;AN=32;BaseQRankSum=-5.525e+00;DP=4228;ExcessHet=17.4423;FS=211.915;InbreedingCoeff=-0.7194;MLEAC=15,2;MLEAF=0.469,0.063;MQ=60.00;MQRankSum=0.00;QD=3.63;ReadPosRankSum=0.978;SOR=13.406	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:168,16,19:203:41:.:.:405,41,6819,0,5670,5758	1	0	13	5
chr5	141303081	141303081	A	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.T785C:p.I262T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.031	B	0.072	B	0.002	N	0.665	D	2.66	M	-1.43	T	-0.297	T	0.436	T	0.223	1.515	11.02	1.42	0.324	2.506	6.656	0.304	0.0473896448522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.057e-05	0.0052	9.083e-05	7.061e-05	9.408e-05	6.666e-05	6.17e-05	7.637e-05	7.056e-05	7.663e-05	2.352e-05	9.167e-05	0	0	0	9.408e-05	0.0001	3.753e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.012	0.63918	D	0.031	0.20130	B	0.072	0.28043	B	0.002026	0.37411	N	0.228449	0.664955	0.33087	D	2.495	0.72670	M	-1.43	0.80730	T	-3.37	0.66665	D	0.15	0.15328	-0.2969	0.75071	T	0.436	0.77580	T	10	0.32646608	0.49943	T	0.04739	0.62897	D	0.304	0.62510	0.714	0.84962	0.796736975761	0.79484	0.3777484127299112	0.37689	0.256540601776	0.28227	0.559880197048	0.47250	T	0.479583	0.80893	T	-0.0449841	0.45207	T	-0.302393	0.44473	T	0.91609662771225	0.57338	D	0.873613	0.58243	D	0.3416271	0.56408	0.3380717	0.59590	0.3416271	0.56408	0.3380717	0.59589	-5.782	0.44417	T	.	.	0.170	0.37388	B	.	.	3.362138	0.46425	22.3	0.97252123840185223	0.33047	0.90378	0.51506	D	AEFDBI	0.134760	0.25488	N	-0.253584900046592	0.30961	1.73137	-0.254588989580657	0.29613	1.660522	0.0034441891907943	0.10119	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	1.42	0.21524	2.856000	0.48040	.	.	0.751000	0.87719	0.966000	0.33990	0.265000	0.24010	0.967000	0.53440	0.789:0.0:0.211:0.0	6.656	0.22177	508	0.75398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	15997.73	187	chr5	141303081	.	A	G	15997.73	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-3.670e+00;DP=4433;ExcessHet=43.6797;FS=223.742;InbreedingCoeff=-0.9170;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=3.87;ReadPosRankSum=0.595;SOR=14.013	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:168,52:220:99:.:.:719,0,5735	1	0	20	0
chr5	141339813	141339813	T	C	exonic	PCDHGA2	.	nonsynonymous SNV	PCDHGA2:NM_018915:exon1:c.T842C:p.L281P	.	.	7	1511	4	0	0	4	0.00132188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.014	B	0.078	B	0.381	U	0.689	N	3.63	H	4.66	T	-0.964	T	0.013	T	0.453	-0.739	0.851	-10.5	-4.353	-6.895	3.261	0.150	0.00271722805466	.	0.000199681	0.0001	0	0	0	0	0.0002	0	0.0001	0.00011	17	154602	rs200162193	0.0001	0.0001	0.0001	0.0001	0.0007	9.535e-05	9.016e-05	0.0002	0.0001	0	0	0	0	0	0.0007	0.0001	0.0003	0.0001	9.193e-05	9.187e-05	7.711e-05	0.0001	0.0006	5.524e-05	4.362e-05	0.0002	9.007e-05	0	0	0	0	0	0	0.0034	0.0001	0	0.0006	0.005	0.63226	D	0.001	0.83351	D	0.005	0.16867	B	0.019	0.28627	B	0.380836	0.04419	U	1.662640	0.689347	0.33311	D	3.12	0.87914	M	4.66	0.01756	T	-3.77	0.71397	D	0.407	0.48227	-0.9635	0.38507	T	0.013	0.05225	T	10	0.08750498	0.14979	T	0.002717	0.05608	T	0.150	0.39571	.	.	0.239305524855	0.23518	0.5632509396734221	0.56252	0.582002306652	0.53975	.	.	.	0.241644	0.61022	T	-0.345009	0.05048	T	-0.496689	0.22692	T	0.106162622800316	0.13022	T	0.507849	0.16117	T	0.6425026	0.74965	0.48572338	0.70233	0.6425026	0.74966	0.48572338	0.70234	-11.499	0.82346	D	.	.	0.076	0.10787	B	.;.	.;.	0.587022	0.09555	6.331	0.48393506285395027	0.04035	0.02781	0.07488	N	AEFDBI	0.280026	0.39394	N	-1.68873283151015	0.00883	0.03819152	-1.95095446620584	0.00387	0.01710425	0.999999956009789	0.74766	0.549168	0.22868	0	0.547309	0.14657	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	5.26	-10.5	0.00234	-2.846000	0.00803	.	.	-0.891000	0.02386	0.000000	0.06391	0.000000	0.08366	0.558000	0.30364	0.3367:0.1221:0.0738:0.4674	3.261	0.06444	698	0.58074	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2475.98	33	chr5	141339813	.	T	C	2475.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.634;DP=1309;ExcessHet=0.0000;FS=1.864;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=-1.297e+00;SOR=0.869	GT:AD:DP:GQ:PL	0/1:82,97:179:99:2490,0,2008	20	0	1	0
chr5	141400463	141400463	A	G	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925: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	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	4374.45	280	chr5	141400463	.	A	G	4374.45	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-6.509e+00;DP=4902;ExcessHet=17.4423;FS=250.847;InbreedingCoeff=-0.5560;MLEAC=15;MLEAF=0.357;MQ=59.98;MQRankSum=0.00;QD=1.01;ReadPosRankSum=0.940;SOR=14.362	GT:AD:DP:GQ:PL	0/1:222,77:299:99:203,0,4548	6	0	15	0
chr5	146130068	146130068	C	T	exonic	LARS1	.	nonsynonymous SNV	LARS1:NM_001317964:exon24:c.G2440A:p.A814T	.	.	436	1080	6	0	0	6	0.00277008	.	.	141794	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.27	T	0.067	B	0.077	B	0.000	N	1.000	D	1.655	L	2.28	T	-1.095	T	0.028	T	0.326	1.805	11.99	3.65	1.322	3.207	9.367	0.044	.	0.0043	0.00359425	0.0046	0.0013	0.0016	0	0.0153	0.0047	0.0044	0.0066	0.0041655	644	154602	rs112912805	0.0051	0.0051	0.0051	0.0052	0.0062	0.0050	0.0050	0.0058	0.0056	0.0006	0.0021	0.0005	7.56e-05	0.0140	0.0003	0.0052	0.0046	0.0062	0.0038	0.0038	0.0035	0.0041	0.0051	0.0036	0.0035	0.0047	0.0045	0.0009	0	0.0038	0	0	0.0100	0	0.0051	0.0038	0.0048	0.553	0.06523	T	0.421	0.24987	T	0.013	0.16609	B	0.013	0.16460	B	0.000102	0.50451	N	0.205916	0.999992	0.58761	D	1.88	0.49984	L	2.28	0.17271	T	-1.29	0.32387	N	0.553	0.58287	-1.0947	0.04795	T	0.028	0.12058	T	10	0.016147673	0.00340	T	.	.	.	0.044	0.11924	.	.	0.293502639404	0.28954	0.7169988933321284	0.71642	0.224889706269	0.25025	0.525510668755	0.42402	T	0.021387	0.16665	T	-0.503752	0.00545	T	-0.493213	0.23055	T	0.0146584479407103	0.00304	T	0.875312	0.58680	D	0.12224457	0.28730	0.12464879	0.30042	0.15726492	0.35446	0.13043901	0.31341	-8.659	0.72778	D	0.17385973862424722	0.22048	0.092	0.20586	B	.;.;.	.;.;.	3.276812	0.44877	22.0	0.94236199971402324	0.24496	0.94495	0.61350	D	AEFGBI	0.278999	0.39315	N	-0.116112682491289	0.36691	2.124243	0.0300973528348812	0.41119	2.465118	0.999350016013506	0.39259	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.56	3.65	0.40985	3.264000	0.51256	0.604000	0.19959	0.599000	0.40250	1.000000	0.71638	0.993000	0.31925	0.996000	0.76049	0.1442:0.7798:0.0:0.076	9.367	0.37390	830	0.39242	Methionyl/Valyl/Leucyl/Isoleucyl-tRNA synthetase, anticodon-binding;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1253.98	35	chr5	146130068	.	C	T	1253.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.301e+00;DP=867;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.00;ReadPosRankSum=-1.137e+00;SOR=0.756	GT:AD:DP:GQ:PL	0/1:56,58:114:99:1268,0,1302	20	0	1	0
chr5	146258478	146258478	C	T	exonic	RBM27	.	nonsynonymous SNV	RBM27:NM_018989:exon11:c.C1624T:p.P542S,	.	.	431	1086	4	1	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	1.0	D	0.992	D	0.000	D	1.000	D	0.345	N	0.77	T	-0.885	T	0.178	T	0.65	4.545	24.6	5.75	2.706	3.737	19.944	0.228	0.0112348815519	0.0009	0.000199681	0.0019	0	0.0012	0	0.0054	0.0019	0	0.0030	0.0015912	246	154602	rs200965300	0.0011	0.0012	0.0010	0.0013	0.0026	0.0011	0.0011	0.0023	0.0022	6.161e-05	0.0008	0.0067	0	0.0046	0.0023	0.0008	0.0016	0.0026	0.0013	0.0013	0.0011	0.0015	0.0025	0.0011	0.0011	0.0014	0.0011	2.407e-05	0	0.0003	0.0081	0	0.0044	0.0068	0.0014	0.0014	0.0025	0.097	0.30943	T	0.225	0.25514	T	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	0.999907	0.50806	D	0.55	0.14455	N	0.77	0.49642	T	-2.24	0.50175	N	0.328	0.36884	-0.8852	0.49340	T	0.178	0.52427	T	10	0.0077544153	0.00176	T	0.011235	0.28641	T	0.228	0.52768	.	.	0.451786746415	0.44804	0.4722552076750492	0.47144	0.380928221165	0.39451	0.591808080673	0.51749	T	0.074913	0.35052	T	-0.307567	0.07964	T	-0.220433	0.52696	T	0.0666651896349265	0.08175	T	0.90181	0.65830	D	0.13858896	0.32047	0.24606408	0.50108	0.13858896	0.32046	0.24606408	0.50107	-2.85	0.08653	T	.	.	0.092	0.32348	B	.;.	.;.	4.000541	0.58941	24.0	0.99903786774541659	0.97502	0.96222	0.68097	D	AEFBI	0.436732	0.49683	N	0.465249215894373	0.65074	4.776878	0.534648631365012	0.70336	5.490334	0.999980761752705	0.51787	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.75	5.75	0.90390	3.872000	0.55798	7.709000	0.66702	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.944	0.97176	729	0.54495	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	804.98	34	chr5	146258478	.	C	T	804.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.602;DP=775;ExcessHet=0.0000;FS=0.802;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.04;ReadPosRankSum=-1.710e-01;SOR=0.800	GT:AD:DP:GQ:PL	0/1:53,36:89:99:819,0,1286	20	0	1	0
chr5	146286009	146286009	G	C	exonic	RBM27	.	nonsynonymous SNV	RBM27:NM_018989:exon21:c.G3162C:p.E1054D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.984	D	0.935	D	0.000	D	1.000	D	2.24	M	-1.2	T	-0.077	T	0.530	D	0.312	3.405	17.50	0.414	0.113	1.464	8.777	0.401	0.126694259352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.984	0.60733	D	0.935	0.67021	D	0.000001	0.62929	D	0.000000	0.99994	0.51968	D	2.57	0.75187	M	-1.2	0.78537	T	-2.43	0.53258	N	0.604	0.62188	-0.0768	0.80625	T	0.530	0.82549	D	10	0.56155825	0.64816	D	0.126694	0.80839	D	0.401	0.71479	0.107	0.01868	0.710301815084	0.70777	0.0974803881878346	0.09679	0.986908435057	0.73940	0.789129674435	0.80310	T	0.342279	0.71108	T	0.0376074	0.56730	T	-0.183756	0.56173	T	0.978155314922333	0.72188	D	0.924008	0.72230	D	0.5375406	0.69258	0.40438652	0.64867	0.5375406	0.69260	0.40438652	0.64868	-4.2	0.26751	T	.	.	0.635	0.70325	P	.	.	3.296734	0.45235	22.1	0.99785765923896841	0.87219	0.89146	0.49438	D	AEFGBI	0.237189	0.35951	N	0.309027367486255	0.56610	3.826061	0.216695905855177	0.50773	3.265896	0.999903693258869	0.45458	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	0.414	0.15624	1.641000	0.36812	2.352000	0.32320	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.6152:0.0:0.3848:0.0	8.777	0.33924	839	0.37672	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2273	429.3	78	chr5	146286009	.	G	C	429.3	.	AC=5;AF=0.227;AN=22;BaseQRankSum=-1.959e+00;DP=1556;ExcessHet=1.1607;FS=123.785;InbreedingCoeff=-0.3072;MLEAC=7;MLEAF=0.318;MQ=60.00;MQRankSum=0.00;QD=1.03;ReadPosRankSum=0.696;SOR=9.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,27:67:99:0|1:146286009_G_C:324,0,653:146286009	6	0	5	10
chr5	146286010	146286010	T	C	exonic	RBM27	.	nonsynonymous SNV	RBM27:NM_018989:exon21:c.T3163C:p.S1055P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.995	D	0.969	D	0.000	D	1.000	D	1.445	L	0.46	T	-0.526	T	0.275	T	0.605	3.216	16.77	5.32	1.998	3.571	15.261	0.178	0.0196224470012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.17	0.30436	T	0.995	0.67487	D	0.969	0.72001	D	0.000002	0.62929	D	0.000000	0.999957	0.52396	D	1.61	0.41143	L	0.46	0.56281	T	-2.19	0.49352	N	0.266	0.30118	-0.5258	0.67699	T	0.275	0.64701	T	10	0.2888462	0.46467	T	0.019622	0.42029	T	0.178	0.44724	0.108	0.01928	0.426039362998	0.42221	0.09694692585479496	0.09626	0.396786836768	0.40786	0.812551379204	0.83882	D	0.251116	0.62132	T	0.0244463	0.54980	T	-0.202661	0.54394	T	0.871832430362701	0.52172	D	0.90281	0.66017	D	0.4725479	0.65447	0.58739346	0.76067	0.4725479	0.65448	0.58739346	0.76068	-7.368	0.56679	T	.	.	0.622	0.69779	P	.	.	4.230383	0.64060	24.7	0.99856421454609945	0.93548	0.91631	0.53932	D	AEFGBI	0.628167	0.61035	D	0.54245640395686	0.69625	5.38347	0.542800382085668	0.70898	5.573445	0.999999878418952	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	3.683000	0.54396	6.145000	0.54110	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.261	0.73323	839	0.37672	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09375	51.57	41	chr5	146286010	.	T	C	51.57	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-2.225e+00;DP=1488;ExcessHet=0.3300;FS=111.728;InbreedingCoeff=-0.1555;MLEAC=3;MLEAF=0.094;MQ=60.00;MQRankSum=0.00;QD=0.21;ReadPosRankSum=-2.400e-02;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,17:69:46:0|1:146286009_G_C:46,0,1427:146286009	13	0	3	5
chr5	146492930	146492930	A	G	exonic	TCERG1	.	nonsynonymous SNV	TCERG1:NM_001040006:exon14:c.A2060G:p.Q687R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.784	P	0.55	P	0.000	D	1.000	D	1.32	L	1.53	T	-1.090	T	0.098	T	0.654	4.213	21.9	5.51	2.217	9.069	15.931	0.157	0.0140942780078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.377e-06	2.736e-06	1.37e-06	1.384e-06	1.184e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.028e-07	0	1.184e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.024	0.57104	D	0.654	0.44396	P	0.55	0.49239	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.975	0.53506	M	1.53	0.30401	T	-1.06	0.27876	N	0.66	0.67822	-1.0897	0.05582	T	0.098	0.36625	T	10	0.61002386	0.67391	D	0.014094	0.33970	T	0.157	0.40909	0.361	0.36548	0.542800796876	0.53932	0.7432346970136934	0.74269	1.05838413245	0.76394	0.875220775604	0.93306	D	0.120726	0.44317	T	0.0370616	0.56659	T	-0.18454	0.56100	T	0.875656127929688	0.52553	D	0.963004	0.86214	D	0.4142447	0.61706	0.2622441	0.52014	0.4142447	0.61707	0.2622441	0.52013	-9.353	0.69940	D	.	.	0.663	0.71440	P	.;.	.;.	4.316933	0.66033	24.9	0.9975549283749936	0.84615	0.99727	0.99005	D	AEFBI	0.901401	0.84804	D	0.474103078681615	0.65581	4.840742	0.561255439492788	0.72183	5.769964	0.999999793972132	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.51	5.51	0.81769	9.098000	0.93552	11.222000	0.89806	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	15.931	0.79451	912	0.21483	FF domain|FF domain|FF 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	0.02381	551.98	34	chr5	146492930	.	A	G	551.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.516e+00;DP=695;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.04;ReadPosRankSum=1.24;SOR=0.693	GT:AD:DP:GQ:PL	0/1:25,25:50:99:566,0,653	20	0	1	0
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	114730.68	413	chr5	157052557	.	C	*,CGTT	114730.68	.	AC=31,10;AF=0.738,0.238;AN=42;DP=11099;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=31,10;MLEAF=0.738,0.238;MQ=60.00;QD=11.64;SOR=0.614	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,516,0:516:99:.:.:22950,1562,0,22950,1562,22950	0	12	1	0
chr5	178986162	178986162	G	C	exonic	GRM6	.	nonsynonymous SNV	GRM6:NM_000843:exon9:c.C2092G:p.L698V,	Night blindness, congenital stationary (complete), 1B, autosomal recessive, Autosomal recessive	.	0	1515	7	0	0	7	0.00230491	.	.	105530	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.74	T	0.995	D	0.994	D	.	.	1.000	D	0.705	N	-2.42	D	-0.117	T	0.537	D	0.788	1.607	11.33	5.12	2.553	7.863	9.986	0.657	0.0277139199586	0.0062	0.00279553	0.0049	0.0021	0.0023	0	0.0016	0.0070	0.0023	0.0044	0.004987	771	154602	rs62638623	0.0082	0.0083	0.0085	0.0080	0.0100	0.0081	0.0081	0.0098	0.0098	0.0015	0.0022	0.0002	0	0.0020	0.0019	0.0100	0.0053	0.0043	0.0049	0.0049	0.0052	0.0047	0.0088	0.0047	0.0045	0.0082	0.0080	0.0020	0	0.0024	0	0	0.0010	0	0.0088	0.0028	0.0041	0.769	0.03392	T	0.644	0.06881	T	0.881	0.48446	P	0.51	0.47925	P	.	.	.	.	0.999636	0.47961	D	1.22	0.30592	L	-2.42	0.88611	D	-0.44	0.14588	N	0.823	0.81857	-0.1167	0.79711	T	0.537	0.82907	D	9	0.012792677	0.00274	T	0.027714	0.50496	D	0.657	0.87135	.	.	0.860430194584	0.85908	0.29251223687236894	0.29164	0.271339168902	0.29656	0.603164315224	0.53351	T	0.188052	0.54185	T	-0.101619	0.36157	T	0.0886459	0.76154	D	0.0693013652900819	0.08553	T	0.954105	0.82551	D	0.1523593	0.34591	0.135132	0.32362	0.14026096	0.32367	0.11007371	0.26536	-7.785	0.59595	D	0.20156662135405184	0.26783	0.168	0.36889	B	.;.;.	.;.;.	4.813338	0.78331	26.9	0.98728080588668932	0.45304	0.99123	0.91564	D	AEFDBI	0.929862	0.91627	D	0.331440593096784	0.57770	3.945613	0.39143314837022	0.61036	4.29827	0.988659591547865	0.31586	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.12	5.12	0.69459	8.053000	0.89235	11.619000	0.93604	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.538000	0.29892	0.0931:0.0:0.9069:0.0	9.986	0.41015	739	0.53257	GPCR family 3, C-terminal|GPCR family 3, C-terminal;GPCR family 3, C-terminal|GPCR family 3, C-terminal;GPCR family 3, C-terminal|GPCR family 3, C-terminal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2174.98	41	chr5	178986162	.	G	C	2174.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.528e+00;DP=1015;ExcessHet=0.0000;FS=1.131;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=0.836;SOR=0.600	GT:AD:DP:GQ:PL	0/1:98,89:187:99:2189,0,2545	20	0	1	0
chr5	179522611	179522611	C	0	exonic	C5orf60	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	21034.34	33	chr5	179522611	.	C	T,*	21034.34	.	AC=11,2;AF=0.306,0.056;AN=36;BaseQRankSum=-1.750e-01;DP=1073;ExcessHet=0.0378;FS=0.561;InbreedingCoeff=0.3964;MLEAC=13,1;MLEAF=0.361,0.028;MQ=58.35;MQRankSum=1.99;QD=28.08;ReadPosRankSum=-4.950e-01;SOR=0.788	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,50,0:85:99:0|1:179522611_C_T:1994,0,1308,2099,1459,3558:179522611	9	3	5	3
chr5	179522612	179522612	A	0	exonic	C5orf60	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	21034.34	33	chr5	179522612	.	A	G,*	21034.34	.	AC=11,2;AF=0.306,0.056;AN=36;BaseQRankSum=1.64;DP=1065;ExcessHet=0.0378;FS=0.561;InbreedingCoeff=0.3964;MLEAC=13,1;MLEAF=0.361,0.028;MQ=58.37;MQRankSum=1.99;QD=28.08;ReadPosRankSum=-4.910e-01;SOR=0.788	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,50,0:85:99:0|1:179522611_C_T:1994,0,1308,2099,1459,3558:179522611	9	3	5	3
chr6	7411419	7411419	G	C	exonic	RIOK1	.	nonsynonymous SNV	RIOK1:NM_001348194:exon14:c.G1045C:p.E349Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.898	P	0.352	B	0.000	D	1.000	D	0	N	3.34	T	-0.753	T	0.007	T	0.514	4.428	23.5	5.62	2.648	8.682	18.632	0.225	0.032129703999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.283	0.21478	T	0.898	0.49442	P	0.352	0.42883	B	0.000001	0.62929	D	0.096591	1	0.81001	D	0.145	0.08828	N	3.34	0.06063	T	-0.87	0.23590	N	0.338	0.37923	-0.7535	0.57752	T	0.007	0.02478	T	10	0.21544152	0.38097	T	0.03213	0.54036	D	0.225	0.52323	0.335	0.32329	0.388812400583	0.38497	0.3162422768940247	0.31537	0.230302317014	0.25578	0.527692854404	0.42709	T	0.013255	0.11500	T	-0.0972108	0.36887	T	-0.377413	0.36026	T	0.585103784492092	0.35815	D	0.855114	0.54241	D	0.1738056	0.38149	0.18711801	0.41924	0.1738056	0.38149	0.18711801	0.41923	-4.263	0.27655	T	.	.	0.130	0.27939	B	.	.	4.028609	0.59550	24.1	0.99713077346358581	0.81493	0.99847	0.99816	D	AEFBI	0.866036	0.78533	D	0.345006990906183	0.58475	4.020116	0.477039224821321	0.66470	4.956473	0.999999422754696	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	8.892000	0.92141	9.689000	0.81268	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.632	0.91319	664	0.61548	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1333	104.37	43	chr6	7411419	.	G	C	104.37	.	AC=4;AF=0.133;AN=30;BaseQRankSum=-3.187e+00;DP=1695;ExcessHet=0.6776;FS=158.280;InbreedingCoeff=-0.2215;MLEAC=5;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=0.29;ReadPosRankSum=0.406;SOR=10.867	GT:AD:DP:GQ:PL	0/1:58,20:78:14:14,0,1013	11	0	4	6
chr6	24145554	24145554	C	G	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196G:p.L66V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.946	D	0.000	D	1.000	D	2.015	M	2.04	T	-1.026	T	0.105	T	0.742	3.788	19.23	5.46	2.571	5.817	19.326	0.159	0.0244498327376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.014	0.62352	D	0.997	0.70673	D	0.946	0.68276	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	1.995	0.54099	M	2.04	0.38397	T	-1.04	0.27259	N	0.598	0.61680	-1.0261	0.21723	T	0.105	0.38341	T	10	0.38316447	0.54345	T	0.02445	0.47438	T	0.159	0.41286	0.222	0.14518	0.592685350901	0.58946	0.5903367191441313	0.58963	1.01389843922	0.74865	0.620901226997	0.55857	T	0.070066	0.33867	T	0.0642638	0.60145	T	-0.145466	0.59643	T	0.947459578514099	0.62685	D	0.808619	0.45852	T	0.4937834	0.66727	0.37499517	0.62653	0.4937834	0.66728	0.37499517	0.62652	-4.546	0.31486	T	.	.	0.126	0.27222	B	.;.;.	.;.;.	4.497323	0.70306	25.5	0.99826269118642064	0.90852	0.95160	0.63658	D	AEFBCI	0.809917	0.73329	D	0.709881601940465	0.80282	7.259509	0.688265315290989	0.81488	7.538295	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4474	3322.42	61	chr6	24145554	.	C	G,T	3322.42	.	AC=6,11;AF=0.158,0.289;AN=38;BaseQRankSum=-1.663e+00;DP=1570;ExcessHet=25.1139;FS=225.828;InbreedingCoeff=-0.7530;MLEAC=6,12;MLEAF=0.158,0.316;MQ=60.00;MQRankSum=0.00;QD=2.85;ReadPosRankSum=0.280;SOR=12.310	GT:AD:DP:GQ:PL	0/1:48,11,8:67:99:124,0,1486,125,707,807	2	0	6	2
chr6	24145554	24145554	C	T	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196T:p.L66F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.989	D	0.000	D	1.000	D	2.36	M	2.04	T	-0.937	T	0.125	T	0.77	4.052	20.8	5.46	2.571	5.817	19.326	0.220	0.0253960966298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.013	0.63109	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.69	0.78713	M	2.04	0.39401	T	-1.57	0.50175	N	0.716	0.72120	-0.9366	0.43149	T	0.125	0.43008	T	10	0.44065765	0.58079	T	0.025396	0.48370	D	0.220	0.51569	0.202	0.11659	0.625481101073	0.62243	0.6214858075856532	0.62081	1.05154938784	0.76170	0.661980450153	0.61693	T	0.106732	0.41833	T	0.0952099	0.63771	D	-0.101014	0.63320	T	0.97040581703186	0.68937	D	0.857914	0.54791	D	0.46572846	0.65027	0.39292505	0.64025	0.46572846	0.65028	0.39292505	0.64025	-5.631	0.43075	T	.	.	0.162	0.37159	B	.;.;.	.;.;.	4.745988	0.76591	26.5	0.99895236271233467	0.96819	0.96227	0.68120	D	AEFBCI	0.831099	0.74969	D	0.760478614766467	0.83585	8.056313	0.721496033539898	0.84012	8.174695	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4474	3322.42	61	chr6	24145554	.	C	G,T	3322.42	.	AC=6,11;AF=0.158,0.289;AN=38;BaseQRankSum=-1.663e+00;DP=1570;ExcessHet=25.1139;FS=225.828;InbreedingCoeff=-0.7530;MLEAC=6,12;MLEAF=0.158,0.316;MQ=60.00;MQRankSum=0.00;QD=2.85;ReadPosRankSum=0.280;SOR=12.310	GT:AD:DP:GQ:PL	0/1:48,11,8:67:99:124,0,1486,125,707,807	2	0	6	2
chr6	25971951	25971951	A	G	exonic	TRIM38	.	nonsynonymous SNV	TRIM38:NM_006355:exon5:c.A590G:p.Y197C,	.	.	428	1085	9	0	0	9	0.00413034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.002	B	0.003	B	0.001	N	1.000	N	1.445	L	3.54	T	-0.936	T	0.006	T	0.169	-0.649	1.144	0.317	0.067	0.478	7.089	0.050	0.00664486824781	0.0006	0.000599042	0.0012	0.0002	0.0003	0.0001	0.0008	0.0017	0	0.0010	0.0010867	168	154602	rs150462702	0.0010	0.0010	0.0009	0.0010	0.0062	0.0009	0.0009	0.0046	0.0041	8.961e-05	0.0005	0.0031	0	0.0016	0.0062	0.0009	0.0010	0.0010	0.0008	0.0008	0.0008	0.0009	0.0013	0.0007	0.0007	0.0010	0.0010	9.62e-05	0	0.0005	0.0012	0	0.0015	0	0.0013	0.0019	0.0008	0.176	0.22312	T	0.117	0.36365	T	0.002	0.09854	B	0.003	0.08700	B	0.001106	0.40219	N	0.000000	1	0.08975	N	1.64	0.41913	L	3.54	0.04799	T	-2.82	0.59545	D	0.167	0.17691	-0.9365	0.43164	T	0.006	0.01870	T	10	0.009574503	0.00216	T	0.006645	0.17529	T	0.050	0.13987	.	.	0.236890367714	0.23314	0.2697650080382905	0.26889	0.350473466732	0.36889	0.323558747768	0.13960	T	0.016251	0.13471	T	-0.555173	0.00272	T	-0.605622	0.12342	T	0.0118776766549711	0.00185	T	0.691431	0.30091	T	0.10090055	0.23830	0.094931945	0.22492	0.10090055	0.23830	0.094931945	0.22491	-6.609	0.51122	T	.	.	0.103	0.18247	B	.	.	1.010684	0.13896	10.45	0.33215808067771457	0.01967	0.07187	0.13212	N	AEFDBCI	0.082419	0.16688	N	-0.916368789543969	0.10459	0.4999079	-0.98132695783854	0.10205	0.5124955	0.999584354413029	0.40607	0.645754	0.44609	0	0.696144	0.67643	0	0.658983	0.55881	0	0.591603	0.36755	0	.	.	4.55	0.317	0.15106	0.798000	0.26674	-0.207000	0.10889	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.280000	0.24017	0.7188:0.0:0.2812:0.0	7.089	0.24450	491	0.76657	.	.	.	.	.	.	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	0.02381	1210.98	34	chr6	25971951	.	A	G	1210.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.861e+00;DP=817;ExcessHet=0.0000;FS=2.559;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=1.08;SOR=0.481	GT:AD:DP:GQ:PL	0/1:50,52:102:99:1225,0,1290	20	0	1	0
chr6	26246827	26246827	T	C	exonic	H4C7	.	nonsynonymous SNV	H4C7:NM_003547:exon1:c.A151G:p.I51V,	.	.	245	1275	1	1	0	3	0.00117509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.554	P	0.498	P	.	.	0.771	N	.	.	-0.21	T	-0.794	T	0.199	T	0.337	0.412	6.239	3.2	1.444	7.260	11.485	0.257	0.00561140992139	7.7e-05	.	9.899e-05	0	8.649e-05	0	0	0.0002	0	0	9.06e-05	14	154602	rs370289402	8.482e-05	8.482e-05	7.759e-05	9.213e-05	0.0031	7.208e-05	6.796e-05	0.0020	0.0017	2.987e-05	0.0001	0	0	3.744e-05	0.0031	7.554e-05	0.0002	2.319e-05	5.254e-05	5.25e-05	1.285e-05	9.401e-05	5.882e-05	2.556e-05	1.829e-05	1.972e-05	1.125e-05	2.405e-05	0	0	0	0	9.423e-05	0	5.882e-05	0.0009	0	.	.	.	0.2	0.27591	T	0.554	0.38213	P	0.498	0.47596	P	.	.	.	.	0.770794	0.29439	N	.	.	.	.	.	.	.	.	.	0.69	0.69562	-0.7940	0.55496	T	0.199	0.55428	T	8	0.60625887	0.67192	D	0.005611	0.14500	T	.	.	.	.	0.331365685468	0.32749	0.7084170325332151	0.70783	.	.	0.783801198006	0.79503	T	0.040973	0.25705	T	-0.163879	0.26165	T	-0.218131	0.52917	T	0.554163575172424	0.34634	D	0.889711	0.62218	D	0.037622247	0.04859	0.19775744	0.43573	0.037622247	0.04859	0.19775744	0.43572	-6.3	0.48722	T	.	.	0.109	0.20896	B	.	.	3.126746	0.42236	21.5	0.64738052892727371	0.07576	0.93955	0.59679	D	AEDBI	0.815623	0.73755	D	0.0613427024487895	0.44666	2.736497	0.0221758741841299	0.40745	2.436711	0.99999993117054	0.74766	0.428477	0.06694	0	0.514364	0.08380	0	0.514364	0.09456	0	0.613276	0.41899	0	.	.	3.2	3.2	0.35826	7.359000	0.78737	3.558000	0.39076	0.560000	0.28382	1.000000	0.71638	1.000000	0.68203	0.003000	0.05239	0.0:0.0:0.0:1.0	11.485	0.49594	712	0.56465	.	.	.	.	.	.	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	0.02381	2601.98	35	chr6	26246827	.	T	C	2601.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.234e+00;DP=941;ExcessHet=0.0000;FS=0.996;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.98;ReadPosRankSum=0.922;SOR=0.620	GT:AD:DP:GQ:PL	0/1:129,108:237:99:2616,0,3486	20	0	1	0
chr6	26285205	26285206	AA	-	exonic	H4C8	.	frameshift deletion	H4C8:NM_003543:exon1:c.294_295del:p.Y99Rfs*26,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.714e-05	0	0	0.0002	0	0	0	0	1.29e-05	2	154602	rs775104854	1.728e-05	1.779e-05	1.918e-05	1.534e-05	0.0003	1.186e-05	1.002e-05	6.137e-05	2.538e-05	0	2.257e-05	0	0	0	0.0003	1.818e-05	1.677e-05	1.167e-05	2.626e-05	2.625e-05	3.855e-05	1.343e-05	0.0002	8.14e-06	5.14e-06	7.97e-06	2.98e-06	4.81e-05	0	0	0	0.0002	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4619.94	41	chr6	26285204	.	TAA	T	4619.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.503;DP=1059;ExcessHet=0.0000;FS=1.648;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.49;ReadPosRankSum=-1.292e+00;SOR=0.822	GT:AD:DP:GQ:PL	0/1:118,119:237:99:4634,0,4562	20	0	1	0
chr6	26468201	26468201	G	C	exonic	BTN2A1	.	nonsynonymous SNV	BTN2A1:NM_001197233:exon7:c.G1053C:p.E351D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.998	D	0.976	D	0.000	D	1.000	N	1.245	L	-0.36	T	-0.890	T	0.226	T	0.088	0.011	4.071	2.67	1.796	-1.212	11.481	0.146	0.018966421531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.24277	T	0.211	0.26631	T	0.998	0.73220	D	0.976	0.73562	D	0.000092	0.51296	D	0.000000	1	0.08975	N	0.49	0.13296	N	-0.36	0.68754	T	-1.5	0.36586	N	0.068	0.04072	-0.8898	0.48952	T	0.226	0.59045	T	10	0.12924948	0.24591	T	0.018966	0.41201	T	0.146	0.38789	0.353	0.35246	0.392395365052	0.38849	0.1890947976805061	0.18827	0.0878000191581	0.09913	0.361539572477	0.19610	T	0.007996	0.07364	T	-0.212128	0.19080	T	-0.542484	0.18052	T	0.37070307135582	0.27824	T	0.0461954	0.00328	T	0.18370253	0.39651	0.12016162	0.29000	0.18370253	0.39651	0.12016162	0.28999	-5.348	0.40415	T	.	.	0.115	0.24833	B	.;.	.;.	1.653848	0.21100	15.05	0.98235129725680093	0.39431	0.16426	0.19383	N	AEFDBI	0.142318	0.26473	N	-0.466510824700501	0.23184	1.243201	-0.612477932372553	0.19173	1.027489	0.999878066652012	0.44625	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.67	2.67	0.30756	-0.887000	0.04260	0.127000	0.14995	-0.185000	0.09859	0.000000	0.06391	0.000000	0.08366	0.093000	0.17941	0.0:0.0:1.0:0.0	11.481	0.49570	637	0.64373	.;SPRY domain|B30.2/SPRY domain|SPRY domain|Butyrophilin subfamily 1/2, SPRY/PRY 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	0.02381	38.98	46	chr6	26468201	.	G	C	38.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.020e+00;DP=1362;ExcessHet=0.0000;FS=154.991;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.16;ReadPosRankSum=2.40;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:205,36:241:53:0|1:26468201_G_C:53,0,6878:26468201	20	0	1	0
chr6	26468202	26468202	G	C	exonic	BTN2A1	.	nonsynonymous SNV	BTN2A1:NM_001197233:exon7:c.G1054C:p.V352L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.04	B	0.048	B	0.005	N	1.000	N	1.3	L	0.18	T	-1.028	T	0.046	T	0.053	-0.984	0.284	0.827	0.195	0.026	3.473	0.046	0.0113536328415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.322	0.13522	T	0.694	0.10429	T	0.04	0.21238	B	0.048	0.24975	B	0.004762	0.33407	N	0.137167	1	0.08975	N	1.02	0.25474	L	0.18	0.60361	T	-1.07	0.27876	N	0.037	0.01135	-1.0282	0.21038	T	0.046	0.19879	T	10	0.103967994	0.19141	T	0.011354	0.28886	T	0.046	0.12618	0.696	0.83313	0.330069100803	0.32608	0.18803037934269917	0.18721	0.073190021523	0.08211	0.332187712193	0.15264	T	0.002426	0.01816	T	-0.263576	0.12485	T	-0.616385	0.11471	T	0.136818408966064	0.15998	T	0.253675	0.03893	T	0.08667843	0.20157	0.044379774	0.05736	0.08667843	0.20157	0.044379774	0.05735	-5.069	0.38799	T	.	.	0.183	0.42346	B	.;.	.;.	1.079481	0.14625	11.18	0.65931159684803642	0.07913	0.17428	0.19833	N	AEFDBI	0.148750	0.27270	N	-1.15219466408591	0.05744	0.2626631	-1.21295770557281	0.05701	0.2723853	0.999415319775984	0.39577	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.67	0.827	0.17972	-0.311000	0.08164	1.108000	0.24132	-0.191000	0.09375	0.000000	0.06391	0.000000	0.08366	0.086000	0.17578	0.1419:0.0:0.6121:0.246	3.473	0.07138	637	0.64373	.;SPRY domain|B30.2/SPRY domain|SPRY domain|Butyrophilin subfamily 1/2, SPRY/PRY 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	1	0	0	0	0.1	101.74	119	chr6	26468202	.	G	C	101.74	.	AC=3;AF=0.100;AN=30;BaseQRankSum=-5.090e+00;DP=3171;ExcessHet=0.3300;FS=149.650;InbreedingCoeff=-0.1659;MLEAC=4;MLEAF=0.133;MQ=60.00;MQRankSum=0.00;QD=0.15;ReadPosRankSum=1.79;SOR=10.113	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:205,36:241:53:0|1:26468201_G_C:53,0,6878:26468201	12	0	3	6
chr6	29396908	29396908	G	T	exonic	OR12D2	.	nonsynonymous SNV	OR12D2:NM_013936:exon1:c.G209T:p.C70F,	.	.	436	1026	55	3	2	63	0.0288689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.005	B	0.008	B	0.000	D	1.000	N	2.33	M	-1.23	T	-0.710	T	0.229	T	0.182	-0.744	0.833	2.22	0.335	0.409	10.202	0.188	.	0.0053	0.00479233	0.0063	0.0012	0.0044	0.0002	0.0053	0.0065	0.0069	0.0130	0.005705	882	154602	rs36210740	0.0058	0.0058	0.0055	0.0062	0.0265	0.0057	0.0057	0.0231	0.0218	0.0017	0.0055	0.0119	7.557e-05	0.0045	0.0265	0.0053	0.0065	0.0141	0.0051	0.0051	0.0051	0.0052	0.0133	0.0048	0.0047	0.0107	0.0097	0.0017	0.0088	0.0056	0.0124	0.0002	0.0049	0.0102	0.0065	0.0071	0.0133	.	.	.	.	.	.	0.005	0.12996	B	0.008	0.13708	B	0.000217	0.47681	D	0.093597	0.999788	0.20372	N	0.915	0.23335	L	.	.	.	.	.	.	.	.	-0.7101	0.59947	T	0.229	0.59434	T	10	0.006487787	0.00147	T	.	.	.	.	.	.	.	.	.	0.17590871544809583	0.17509	.	.	0.250938415527	0.03867	T	0.008906	0.08144	T	-0.460558	0.00976	T	-0.422012	0.30845	T	0.0155577715639851	0.00353	T	0.59804	0.22252	T	0.17767172	0.38745	0.26035833	0.51798	0.17767172	0.38745	0.26035833	0.51797	-6.265	0.48445	T	.	.	0.105	0.19438	B	.;.	.;.	0.379155	0.07510	4.157	0.74111386093232068	0.10574	0.02074	0.06175	N	AEFBI	0.029282	0.02736	N	-0.758143495804165	0.14413	0.717744	-0.849903892683557	0.13290	0.6886131	9.24015489445909E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.07	2.22	0.27116	0.853000	0.27431	.	.	0.400000	0.20548	0.000000	0.06391	0.000000	0.08366	0.180000	0.21296	0.0:0.1475:0.6996:0.1529	10.202	0.42266	814	0.42100	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	0.04762	6427.11	34	chr6	29396908	.	G	T	6427.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.54;DP=3467;ExcessHet=0.1072;FS=1.101;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.75;ReadPosRankSum=-1.034e+00;SOR=0.621	GT:AD:DP:GQ:PL	0/1:169,117:286:99:3152,0,4521	19	0	2	0
chr6	29942948	29942948	C	0	exonic	HLA-A	.	.	.	.	.	4	962	413	52	91	608	0.211798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	11446.09	83	chr6	29942948	.	C	G,*	11446.09	.	AC=7,5;AF=0.167,0.119;AN=42;BaseQRankSum=2.18;DP=2279;ExcessHet=3.2961;FS=4.407;InbreedingCoeff=-0.1632;MLEAC=7,5;MLEAF=0.167,0.119;MQ=58.86;MQRankSum=-2.836e+00;QD=8.92;ReadPosRankSum=-1.240e+00;SOR=1.060	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,78,0:84:17:0|1:29942939_C_G:3237,0,17,3255,252,3507:29942939	10	1	5	0
chr6	29942984	29942984	G	0	exonic	HLA-A	.	.	.	.	.	21	460	694	307	40	1348	0.587074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	27213.23	96	chr6	29942984	.	G	A,*	27213.23	.	AC=17,4;AF=0.447,0.105;AN=38;BaseQRankSum=2.07;DP=1862;ExcessHet=2.0051;FS=0.540;InbreedingCoeff=-0.1455;MLEAC=18,4;MLEAF=0.474,0.105;MQ=58.85;MQRankSum=-2.139e+00;QD=18.59;ReadPosRankSum=-7.460e-01;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,65,0:65:99:1|1:29942982_T_A:2925,196,0,2925,196,2925:29942982	3	4	8	2
chr6	30108100	30108100	G	C	exonic	TRIM31	.	nonsynonymous SNV	TRIM31:NM_007028:exon6:c.C836G:p.A279G,	.	.	428	1086	8	0	0	8	0.00366972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.774	P	0.497	P	0.378	U	1.000	N	0.55	N	-0.26	T	-1.031	T	0.089	T	0.13	2.149	13.14	0.061	-0.021	0.023	5.236	0.092	0.0103216636934	0.0013	0.000599042	0.0007	0.0004	0.0010	0	0	0.0009	0	0.0005	0.0005757	89	154602	rs143752017	0.0005	0.0005	0.0005	0.0005	0.0038	0.0005	0.0005	0.0025	0.0021	6.169e-05	0.0013	0.0023	5.228e-05	3.929e-05	0.0038	0.0005	0.0007	0.0007	0.0007	0.0007	0.0007	0.0008	0.0021	0.0006	0.0006	0.0015	0.0013	0.0002	0.0088	0.0021	0.0023	0	9.48e-05	0	0.0007	0.0005	0.0002	0.004	0.65419	D	0.019	0.59159	D	0.774	0.44062	P	0.497	0.47562	P	0.377741	0.13434	U	0.555584	0.999576	0.20950	N	1.24	0.30952	L	-0.26	0.67187	T	-2.08	0.47514	N	0.094	0.07398	-1.0311	0.20099	T	0.089	0.34188	T	10	0.0051229596	0.00111	T	0.010322	0.26719	T	0.092	0.26621	.	.	0.592368907089	0.58914	0.06743054503027741	0.06681	0.267289047537	0.29270	0.34406208992	0.17044	T	0.004222	0.03630	T	-0.45042	0.01123	T	-0.470215	0.25493	T	0.0189243410639565	0.00602	T	.	.	.	0.026830329	0.01791	0.06225984	0.12152	0.026830329	0.01791	0.06225984	0.12152	-5.104	0.37950	T	.	.	0.232	0.46528	B	.	.	2.345110	0.30055	18.32	0.99251556935886676	0.56891	0.05102	0.10903	N	AEFBI	0.065437	0.12763	N	-0.404537125218123	0.25311	1.372979	-0.493944187148452	0.22319	1.211727	0.272097181707328	0.18902	0.516011	0.20929	0	0.610034	0.51514	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	2.9	0.061	0.13653	0.110000	0.15273	.	.	0.660000	0.55035	0.000000	0.06391	0.000000	0.08366	0.838000	0.39538	0.4244:0.0:0.5756:0.0	5.236	0.14764	846	0.36215	.	.	.	.	.	.	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	0.02381	375.99	35	chr6	30108100	.	G	C	375.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.143e+00;DP=872;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0253;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.00;ReadPosRankSum=-4.090e-01;SOR=0.668	GT:AD:DP:GQ:PL	0/1:27,20:47:99:390,0,726	20	0	1	0
chr6	30157034	30157034	C	T	exonic	TRIM10	.	nonsynonymous SNV	TRIM10:NM_006778:exon5:c.G800A:p.R267Q	.	.	434	1075	13	0	0	13	0.00601017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92	T	0.948	P	0.322	B	0.000	D	0.550	N	1.46	L	3.82	T	-0.967	T	0.004	T	0.382	3.220	16.79	4.68	2.809	0.201	11.289	0.110	.	0.0090	0.00359425	0.0077	0.0024	0.0042	0	0.0104	0.0112	0.0069	0.0025	0.0069792	1079	154602	rs144731721	0.0081	0.0081	0.0083	0.0079	0.0092	0.0080	0.0079	0.0090	0.0090	0.0014	0.0044	0.0057	0.0003	0.0107	0.0068	0.0092	0.0071	0.0024	0.0073	0.0073	0.0069	0.0077	0.0100	0.0069	0.0068	0.0094	0.0091	0.0020	0.0910	0.0065	0.0061	0	0.0106	0	0.0100	0.0066	0.0029	0.033	0.44358	D	0.625	0.07316	T	0.913	0.53620	P	0.129	0.41795	B	0.000061	0.52346	D	0.000000	0.549516	0.31346	N	1.455	0.36767	L	3.82	0.03728	T	0.97	0.02297	N	0.21	0.23380	-0.9671	0.37794	T	0.004	0.01365	T	10	0.003029883	0.00050	T	.	.	.	0.110	0.31079	.	.	0.266385636622	0.26244	0.16186742443344518	0.16107	0.420563270104	0.42581	0.469495266676	0.34610	T	2.96E-4	0.00073	T	-0.517685	0.00454	T	-0.507	0.21623	T	0.0197773522315318	0.00679	T	.	.	.	0.19610429	0.41425	0.20326965	0.44395	0.19610429	0.41425	0.20326965	0.44394	-2.835	0.08510	T	.	.	0.080	0.13503	B	.;.	.;.	2.963804	0.39475	21.0	0.99862671745657383	0.94093	0.31410	0.24330	N	AEFDBI	0.174159	0.30128	N	0.0202556560660512	0.42777	2.583852	0.0953531941251833	0.44313	2.715592	0.999999449537794	0.74766	0.516011	0.20929	0	0.59043	0.45803	0	0.577349	0.28860	0	0.631631	0.49550	0	.	.	5.61	4.68	0.58319	0.341000	0.19652	.	.	0.585000	0.30472	0.000000	0.06391	1.000000	0.68203	0.979000	0.57723	0.1816:0.8183:0.0:0.0	11.289	0.48477	840	0.37365	.;.	HLA-K|ZFP57|HLA-K|ZFP57|ZFP57|HLA-H|HCG4P7|HCG4P7|HLA-K|HLA-K|TRIM31-AS1|ZFP57|HLA-H|HCG4P7|HLA-K|ZFP57	Adipose_Subcutaneous|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Esophagus_Mucosa|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood	HLA-H|HLA-H|HLA-H|HLA-A|HLA-H|HLA-A	Cells_Cultured_fibroblasts|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Nerve_Tibial|Nerve_Tibial	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1972.11	33	chr6	30157034	.	C	T	1972.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.17;DP=842;ExcessHet=0.1072;FS=1.927;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.95;ReadPosRankSum=-1.400e-02;SOR=0.548	GT:AD:DP:GQ:PL	0/1:39,25:64:99:684,0,944	19	0	2	0
chr6	30713300	30713300	G	T	exonic	MDC1	.	nonsynonymous SNV	MDC1:NM_014641:exon5:c.C642A:p.F214L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	1.0	D	0.998	D	0.002	N	0.910	N	1.935	M	3.25	T	-1.061	T	0.021	T	0.588	1.735	11.76	3.2	0.663	1.591	6.849	0.124	0.00449054041845	0.0008	0.000399361	0.0005	0.0002	0.0008	0	0	0.0008	0	0	0.000414	64	154602	rs144222920	0.0004	0.0004	0.0004	0.0004	0.0026	0.0004	0.0004	0.0016	0.0013	3.002e-05	0.0008	0.0024	0	3.914e-05	0.0026	0.0004	0.0005	1.163e-05	0.0006	0.0006	0.0005	0.0007	0.0018	0.0005	0.0004	0.0013	0.0011	0.0002	0	0.0018	0.0024	0	9.423e-05	0.0070	0.0006	0.0010	0	0.032	0.44694	D	0.026	0.55759	D	0.993	0.65571	D	0.956	0.69739	D	0.002375	0.36688	N	0.000000	0.972075	0.27536	N	2.455	0.71248	M	3.25	0.06762	T	-3.27	0.65512	D	0.488	0.52208	-1.0612	0.11459	T	0.021	0.08870	T	10	0.040240765	0.02577	T	0.004491	0.11031	T	0.124	0.34239	0.164	0.06842	0.477762074677	0.47404	0.0988376062604004	0.09814	0.783462240501	0.65400	0.614347755909	0.54930	T	0.248613	0.61844	T	-0.367777	0.03708	T	-0.396148	0.33832	T	0.0611190768811512	0.07344	T	.	.	.	0.09634478	0.22691	0.114131406	0.27549	0.09634478	0.22691	0.114131406	0.27548	-1.637	0.02070	T	.	.	0.923	0.84437	P	.	.	2.228821	0.28453	17.80	0.99394906894837542	0.62519	0.91974	0.54667	D	AEFBI	.	.	.	0.0835322933866944	0.45695	2.821775	-0.0378717379271155	0.38020	2.23408	0.999929807656648	0.46280	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.99	3.2	0.35826	0.912000	0.28220	.	.	0.676000	0.76740	0.795000	0.29657	1.000000	0.68203	0.065000	0.16320	0.2117:0.0:0.7883:0.0	6.849	0.23187	884	0.28482	.	.	.	.	.	.	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	0.02381	457.98	77	chr6	30713300	.	G	T	457.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.110e-01;DP=1430;ExcessHet=0.0000;FS=2.755;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.90;ReadPosRankSum=0.064;SOR=1.262	GT:AD:DP:GQ:PL	0/1:24,18:42:99:472,0,723	20	0	1	0
chr6	30986616	30986661	TAGCACAGCCACCAACTCTGACTCCAGCACAACCTCCAGTGAGGCC	0	exonic	MUC21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	13728.66	432	chr6	30986616	.	TAGCACAGCCACCAACTCTGACTCCAGCACAACCTCCAGTGAGGCC	T,CAGCACAGCCACCAACTCTGACTCCAGCACAACCTCCAGTGAGGCC,*	13728.66	.	AC=1,2,1;AF=0.024,0.048,0.024;AN=42;BaseQRankSum=-8.230e-01;DP=9954;ExcessHet=0.6776;FS=6.065;InbreedingCoeff=-0.1053;MLEAC=1,2,1;MLEAF=0.024,0.048,0.024;MQ=57.99;MQRankSum=-4.406e+00;QD=7.47;ReadPosRankSum=1.85;SOR=0.567	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:338,1,99,0:438:99:.:.:6514,3621,25438,0,13431,16062,7180,17817,16573,24283	17	0	1	0
chr6	30986657	30986657	A	0	exonic	MUC21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	8234.21	432	chr6	30986657	.	A	G,*	8234.21	.	AC=2,1;AF=0.053,0.026;AN=38;BaseQRankSum=0.397;DP=9754;ExcessHet=0.3476;FS=4.024;InbreedingCoeff=0.0459;MLEAC=2,1;MLEAF=0.053,0.026;MQ=57.05;MQRankSum=-7.199e+00;QD=5.26;ReadPosRankSum=-6.990e-01;SOR=0.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:289,99,421:809:99:0|1:30986657_A_*:6833,0,11681,2519,10171,13287:30986657	16	0	2	2
chr6	30986661	30986661	C	0	exonic	MUC21	.	.	.	.	.	454	958	96	0	14	110	0.0477137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	8575.67	432	chr6	30986661	.	C	T,*	8575.67	.	AC=2,1;AF=0.050,0.025;AN=40;BaseQRankSum=-3.158e+00;DP=9758;ExcessHet=0.3476;FS=3.259;InbreedingCoeff=0.0789;MLEAC=2,1;MLEAF=0.050,0.025;MQ=57.03;MQRankSum=-7.002e+00;QD=6.47;ReadPosRankSum=1.40;SOR=0.477	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:280,99,198:577:99:0|1:30986657_A_*:5927,0,11466,2810,10934,14254:30986657	17	0	2	1
chr6	31028713	31028713	C	0	exonic	MUC22	.	.	.	.	.	482	658	261	50	71	432	0.215265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	200572.81	770	chr6	31028713	.	C	T,*	200572.81	.	AC=13,2;AF=0.310,0.048;AN=42;BaseQRankSum=1.28;DP=14734;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=13,2;MLEAF=0.310,0.048;MQ=59.98;MQRankSum=0.00;QD=20.50;ReadPosRankSum=-4.400e-01;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:473,0,398:871:99:.:.:15125,16548,36350,0,19802,18602	9	2	8	0
chr6	31029812	31029812	-	CTGAGACCACCACAGCCTCCACTG	exonic	MUC22	.	nonframeshift insertion	MUC22:NM_001198815:exon3:c.4381_4382insCTGAGACCACCACAGCCTCCACTG:p.S1461_G1462insETTTASTA	.	.	445	715	203	2	157	364	0.126451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0015	0.0014	0.0016	0.0071	0.0015	0.0014	0.0052	0.0046	0.0002	0.0014	0.0048	0.0004	0.0062	0.0071	0.0012	0.0021	0.0041	0.0005	0.0005	0.0006	0.0005	0.0013	0.0004	0.0004	0.0005	0.0005	0.0001	0	0.0005	0.0018	0.0002	0.0009	0	0.0007	0.0007	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	60923.36	583	chr6	31029812	.	T	G,TCTGAGACCACCACAGCCTCCACTG,*	60923.36	.	AC=6,3,2;AF=0.158,0.079,0.053;AN=38;BaseQRankSum=-3.870e-01;DP=15677;ExcessHet=7.7275;FS=0.535;InbreedingCoeff=-0.4000;MLEAC=6,3,2;MLEAF=0.158,0.079,0.053;MQ=59.59;MQRankSum=-2.939e+00;QD=6.47;ReadPosRankSum=-4.882e+00;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:763,175,0,0:938:99:0|1:31029812_T_G:3718,0,30468,6012,30991,37003,6012,30991,37003,37003:31029812	8	0	6	2
chr6	31029812	31029812	T	0	exonic	MUC22	.	.	.	.	.	445	715	203	2	157	364	0.126451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	60923.36	583	chr6	31029812	.	T	G,TCTGAGACCACCACAGCCTCCACTG,*	60923.36	.	AC=6,3,2;AF=0.158,0.079,0.053;AN=38;BaseQRankSum=-3.870e-01;DP=15677;ExcessHet=7.7275;FS=0.535;InbreedingCoeff=-0.4000;MLEAC=6,3,2;MLEAF=0.158,0.079,0.053;MQ=59.59;MQRankSum=-2.939e+00;QD=6.47;ReadPosRankSum=-4.882e+00;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:763,175,0,0:938:99:0|1:31029812_T_G:3718,0,30468,6012,30991,37003,6012,30991,37003,37003:31029812	8	0	6	2
chr6	31029828	31029828	A	0	exonic	MUC22	.	.	.	.	.	423	969	80	0	50	130	0.0396432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	5569.5	583	chr6	31029828	.	A	C,*	5569.5	.	AC=2,4;AF=0.050,0.100;AN=40;BaseQRankSum=-1.683e+00;DP=14086;ExcessHet=1.7912;FS=1.401;InbreedingCoeff=-0.1831;MLEAC=2,4;MLEAF=0.050,0.100;MQ=59.56;MQRankSum=-4.977e+00;QD=1.04;ReadPosRankSum=-8.380e+00;SOR=0.583	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:839,0,130:969:99:0|1:31029812_T_G:2185,4710,39710,0,35001,34613:31029812	14	0	2	1
chr6	31029837	31029839	GTA	-	exonic	MUC22	.	nonframeshift deletion	MUC22:NM_001198815:exon3:c.4406_4408del:p.C1469_T1470delinsS	.	.	427	983	61	0	51	112	0.0300937	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.275e-05	0	0	0	.	0	0	0.0001	.	.	.	rs775610649	0.0023	0.0032	0.0022	0.0024	0.0049	0.0022	0.0022	0.0043	0.0040	0.0009	0.0049	0.0030	0.0036	0.0157	0.0033	0.0018	0.0031	0.0023	0.0026	0.0070	0.0025	0.0026	0.0036	0.0023	0.0023	0.0028	0.0026	0.0008	0.0046	0.0036	0.0024	0.0004	0.0056	0.0036	0.0031	0.0029	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4844.79	583	chr6	31029836	.	TGTA	T,*	4844.79	.	AC=2,4;AF=0.048,0.095;AN=42;BaseQRankSum=-1.082e+00;DP=14123;ExcessHet=1.7912;FS=1.401;InbreedingCoeff=-0.1667;MLEAC=2,4;MLEAF=0.048,0.095;MQ=59.64;MQRankSum=-1.155e+01;QD=0.91;ReadPosRankSum=-9.982e+00;SOR=0.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:839,0,130:969:99:0|1:31029812_T_G:2185,4710,39710,0,35001,34613:31029812	15	0	2	0
chr6	31029836	31029839	TGTA	0	exonic	MUC22	.	.	.	.	.	427	983	61	0	51	112	0.0300937	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4844.79	583	chr6	31029836	.	TGTA	T,*	4844.79	.	AC=2,4;AF=0.048,0.095;AN=42;BaseQRankSum=-1.082e+00;DP=14123;ExcessHet=1.7912;FS=1.401;InbreedingCoeff=-0.1667;MLEAC=2,4;MLEAF=0.048,0.095;MQ=59.64;MQRankSum=-1.155e+01;QD=0.91;ReadPosRankSum=-9.982e+00;SOR=0.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:839,0,130:969:99:0|1:31029812_T_G:2185,4710,39710,0,35001,34613:31029812	15	0	2	0
chr6	31029847	31029847	T	0	exonic	MUC22	.	.	.	.	.	427	1042	49	0	4	53	0.0229723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	2266.5	583	chr6	31029847	.	T	C,*	2266.5	.	AC=2,4;AF=0.050,0.100;AN=40;BaseQRankSum=2.16;DP=13767;ExcessHet=1.7912;FS=0.695;InbreedingCoeff=-0.1831;MLEAC=2,4;MLEAF=0.050,0.100;MQ=59.71;MQRankSum=-4.957e+00;QD=0.44;ReadPosRankSum=-1.045e+01;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:843,0,107:950:99:0|1:31029812_T_G:1676,4213,39611,0,35397,35076:31029812	14	0	2	1
chr6	31138724	31138724	-	C	exonic	PSORS1C1	.	frameshift insertion	PSORS1C1:NM_014068:exon5:c.112dupC:p.H40Pfs*3,	.	.	442	561	311	61	147	580	0.278457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	80570.49	135	chr6	31138723	.	TC	TCC,T	80570.49	.	AC=15,5;AF=0.357,0.119;AN=42;BaseQRankSum=0.541;DP=5630;ExcessHet=8.0185;FS=0.525;InbreedingCoeff=-0.3364;MLEAC=15,5;MLEAF=0.357,0.119;MQ=60.00;MQRankSum=0.00;QD=16.94;ReadPosRankSum=0.407;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:191,164,0:355:99:.:.:3920,0,4764,4495,5257,9752	4	3	9	0
chr6	31139016	31139016	T	C	exonic	PSORS1C2	.	nonsynonymous SNV	PSORS1C2:NM_014069:exon1:c.A11G:p.N4S,	.	.	424	1067	31	0	0	31	0.0143187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.004	B	0.003	B	0.858	N	1.000	N	0.805	L	1.94	T	-0.954	T	0.010	T	0.032	1.156	9.706	-5.52	-1.429	-0.722	5.429	0.016	.	0.0032	0.00559105	0.0051	0.0008	0.0036	0.0005	0.0011	0.0049	0.0055	0.0138	0.0048835	755	154602	rs148095595	0.0037	0.0037	0.0032	0.0042	0.0224	0.0036	0.0036	0.0192	0.0180	0.0008	0.0052	0.0093	0.0002	0.0006	0.0224	0.0029	0.0044	0.0141	0.0035	0.0035	0.0030	0.0040	0.0145	0.0032	0.0031	0.0118	0.0108	0.0006	0	0.0077	0.0072	0.0006	9.416e-05	0.0204	0.0040	0.0057	0.0145	0.479	0.08261	T	0.091	0.40110	T	0.004	0.12183	B	0.003	0.08700	B	0.857925	0.08916	N	0.910449	0.999996	0.58761	D	0.625	0.15840	N	1.94	0.22678	T	-0.3	0.11913	N	0.046	0.01825	-0.9539	0.40292	T	0.010	0.03582	T	10	0.005170852	0.00112	T	.	.	.	0.016	0.02506	.	.	0.0482279557977	0.04254	0.058212489981228153	0.05762	0.265596492825	0.29113	0.285623818636	0.08289	T	0.003909	0.03323	T	-0.715145	0.00030	T	-0.788356	0.02210	T	0.00922209648767378	0.00117	T	0.562444	0.19755	T	0.030201409	0.02641	0.026703754	0.00774	0.030201409	0.02641	0.026703754	0.00774	-2.024	0.03273	T	.	.	0.081	0.08368	B	.	.	0.609226	0.09775	6.543	0.9529271797190062	0.26602	0.11298	0.16541	N	AEFDBCI	0.071048	0.14128	N	-1.10584607114366	0.06538	0.3012569	-1.14182271404028	0.06916	0.3345273	0.99999588345578	0.74766	0.559995	0.30671	0	0.547309	0.14657	0	0.527494	0.11647	0	0.562822	0.20929	0	.	.	4.68	-5.52	0.02358	-0.717000	0.05088	.	.	0.597000	0.34315	0.434000	0.26440	0.000000	0.08366	0.803000	0.37862	0.0:0.3563:0.2889:0.3548	5.429	0.15744	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1427.98	43	chr6	31139016	.	T	C	1427.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.979;DP=1249;ExcessHet=0.0000;FS=2.108;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.27;ReadPosRankSum=-2.568e+00;SOR=0.925	GT:AD:DP:GQ:PL	0/1:93,61:154:99:1442,0,2315	20	0	1	0
chr6	31162515	31162515	C	T	exonic	TCF19	.	nonsynonymous SNV	TCF19:NM_001077511:exon4:c.C836T:p.A279V	.	.	430	1060	32	0	0	32	0.0148699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.0	B	0.0	B	0.447	N	1.000	N	0.69	N	1.92	T	-0.975	T	0.014	T	0.03	0.254	5.370	-0.546	0.188	-0.639	4.204	0.003	.	0.0098	0.0121805	0.0069	0.0208	0.0043	0.0004	0.0009	0.0051	0.0058	0.0141	0.0061836	956	154602	rs77870954	0.0043	0.0043	0.0039	0.0048	0.0238	0.0042	0.0042	0.0205	0.0197	0.0215	0.0064	0.0093	0.0002	0.0006	0.0238	0.0030	0.0058	0.0143	0.0088	0.0088	0.0085	0.0092	0.0189	0.0084	0.0083	0.0178	0.0173	0.0189	0	0.0098	0.0072	0.0006	9.429e-05	0.0238	0.0042	0.0095	0.0146	0.145	0.25154	T	0.308	0.19845	T	0.0	0.02946	B	0.0	0.01387	B	0.446526	0.04790	N	1.335570	0.999994	0.08975	N	1.1	0.28011	L	1.92	0.23082	T	-0.8	0.22078	N	0.026	0.01004	-0.9747	0.36191	T	0.014	0.05513	T	10	0.0027285218	0.00042	T	.	.	.	0.003	0.00094	.	.	0.0551355673512	0.04727	0.38362942939470823	0.38277	0.49660854432	0.48164	0.361448168755	0.19597	T	0.002216	0.01614	T	-0.725905	0.00025	T	-0.800552	0.01889	T	0.000636903538643171	0.00006	T	0.330167	0.06908	T	0.039620284	0.05505	0.02574424	0.00631	0.039620284	0.05504	0.02574424	0.00630	-3.514	0.16628	T	.	.	0.075	0.05668	B	.;.	.;.	-0.265624	0.02772	0.375	0.9307783710340356	0.22696	0.01652	0.05304	N	AEFDBHCI	0.065613	0.12808	N	-1.19943932523531	0.05010	0.2273709	-1.22629162905742	0.05491	0.2617625	0.999999986182396	0.74766	0.839682	0.99964	0	0.685571	0.66316	0	0.736553	0.94036	0	0.683762	0.67416	0	.	.	4.74	-0.546	0.11248	-1.094000	0.03470	.	.	-0.880000	0.02471	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3883:0.4132:0.118:0.0806	4.204	0.09939	929	0.16858	.;.	.	.	.	.	rs116585049	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1524.98	34	chr6	31162515	.	C	T	1524.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.698e+00;DP=816;ExcessHet=0.0000;FS=3.883;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.72;ReadPosRankSum=0.097;SOR=0.409	GT:AD:DP:GQ:PL	0/1:37,60:97:99:1539,0,962	20	0	1	0
chr6	31270056	31270056	T	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.A925T:p.M309L	.	.	81	51	300	1006	84	2396	0.957746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	1.575	L	5.84	T	-1.004	T	0.001	T	0.425	-0.069	3.663	-3.63	-1.536	-2.290	10.581	0.120	.	.	0.0177716	0.0078	0.0433	0.0067	0.0001	0.0026	0.0052	0.0092	0.0028	0.0070245	1086	154602	rs1050180	2.484e-05	0.0016	2.064e-05	2.915e-05	0.0005	1.588e-05	1.28e-05	0.0002	0.0002	0.0005	0.0001	0	0	0	0	1.125e-05	0	0.0001	3.397e-05	0.0042	3.245e-05	3.565e-05	8.98e-05	5.64e-06	2.11e-06	.	.	8.98e-05	0	0	0	0	0	0	3.028e-05	0	0	0.018	0.50676	D	0.125	0.36101	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.82	0.00657	T	-0.4	0.14978	N	0.067	0.04307	-1.0040	0.28755	T	0.001	0.00378	T	9	0.0030311644	0.00050	T	.	.	.	0.120	0.33359	0.407	0.44066	0.0762999501168	0.06990	0.10785664231938592	0.10714	0.459405056151	0.45523	0.250036120415	0.03772	T	0.006007	0.05450	T	-0.585568	0.00178	T	-0.561255	0.16258	T	0.00351274895036235	0.00037	T	0.210379	0.02537	T	.	.	.	.	.	.	.	.	-5.459	0.41483	T	.	.	0.115	0.25850	B	.;.;.	.;.;.	0.455434	0.08254	4.996	0.33681637653518909	0.02019	0.04374	0.09949	N	AEFBHCI	0.092565	0.18738	N	-1.68195883182571	0.00907	0.0392893	-1.81546310783018	0.00711	0.03167287	0.999999606301239	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	-3.63	0.04238	-3.041000	0.00696	.	.	-2.073000	0.00407	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2105:0.0:0.7895	10.581	0.44447	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.8333	81957.2	114	chr6	31270056	.	T	C,A	81957.2	.	AC=33,4;AF=0.786,0.095;AN=42;BaseQRankSum=-1.136e+00;DP=2977;ExcessHet=1.1607;FS=0.717;InbreedingCoeff=-0.1351;MLEAC=33,4;MLEAF=0.786,0.095;MQ=59.64;MQRankSum=0.00;QD=28.32;ReadPosRankSum=0.291;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:99,81,0:180:99:.:.:1898,0,3734,2195,3977,6172	0	13	5	0
chr6	31271120	31271120	C	G	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G572C:p.W191S	.	.	0	1434	88	0	0	88	0.02977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.13	B	0.172	B	0.034	N	1.000	N	1.92	M	9.23	T	-1.055	T	0.000	T	0.632	-0.747	0.827	-5.41	-1.558	-0.230	10.604	0.263	.	.	.	0.0305	0.0409	0.0235	0.0133	0.0139	0.0322	0.04	0.0377	0.0235055	3634	154602	rs150127748	3.447e-05	0.0007	3.541e-05	3.353e-05	0.0001	2.543e-05	2.22e-05	5.793e-05	3.72e-05	8.66e-05	0.0001	0	4.805e-05	0	0	3.358e-05	2.307e-05	0	0	0.0004	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.056	0.38407	T	0.235	0.24767	T	0.004	0.12183	B	0.039	0.23607	B	0.034101	0.01782	N	2.640200	0.999999	0.08975	N	.	.	.	9.23	0.00012	T	-8.99	0.98511	D	0.071	0.04426	-1.0547	0.13119	T	0.000	0.00039	T	10	0.017437935	0.00372	T	.	.	.	0.263	0.57612	.	.	.	.	0.47916892798528415	0.47836	0.827582985191	0.67484	0.422887742519	0.28234	T	0.088885	0.38255	T	-0.118559	0.33359	T	-0.408078	0.32447	T	0.055689136153455	0.06473	T	0.00846582	0.00040	T	.	.	.	.	.	.	.	.	-4.058	0.24668	T	.	.	0.164	0.38764	B	.;.;.	.;.;.	1.869959	0.23756	16.14	0.42989600505578496	0.03206	0.03967	0.09375	N	AEFGBHCI	0.128437	0.24621	N	-2.01232931330579	0.00199	0.008528513	-2.15168832890066	0.00144	0.006314187	0.999999987597125	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.71	-5.41	0.02442	0.536000	0.22838	.	.	-1.213000	0.01349	0.798000	0.29695	0.000000	0.08366	0.000000	0.00833	0.2407:0.1633:0.596:0.0	10.604	0.44576	934	0.15400	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	2562.44	178	chr6	31271120	.	C	G	2562.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-2.483e+00;DP=3459;ExcessHet=1.1607;FS=0.000;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=54.11;MQRankSum=-2.934e+00;QD=3.07;ReadPosRankSum=2.86;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,15:141:99:0|1:31271120_C_G:251,0,5058:31271120	16	0	5	0
chr6	31271153	31271153	A	0	exonic	HLA-C	.	.	.	.	.	0	22	11	0	193	204	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	37138.39	180	chr6	31271153	.	A	C,T,*	37138.39	.	AC=19,1,4;AF=0.452,0.024,0.095;AN=42;BaseQRankSum=3.30;DP=3892;ExcessHet=30.0624;FS=1.107;InbreedingCoeff=-0.7500;MLEAC=19,1,4;MLEAF=0.452,0.024,0.095;MQ=52.03;MQRankSum=-2.061e+00;QD=9.74;ReadPosRankSum=-8.020e-01;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:89,34,0,15:138:99:.:.:1063,0,2796,1357,3024,4787,731,2419,4297,4670	0	0	16	0
chr6	31271207	31271207	G	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.C485A:p.T162N	.	.	2	1446	73	1	0	75	0.0252781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.045	B	0.16	B	0.010	U	1.000	N	3.365	M	9.44	T	-0.951	T	0.000	T	0.457	0.381	6.067	-2.67	-0.721	-4.377	8.222	0.058	.	.	.	0.0285	0.0253	0.0185	0.0022	0.0219	0.0416	0.0234	0.0065	0.0026002	402	154602	rs2308584	0.0010	0.0090	0.0010	0.0010	0.0035	0.0009	0.0009	0.0028	0.0026	0.0035	0.0033	0.0073	0.0002	0.0004	0.0017	0.0008	0.0014	0.0005	0.0001	0.0090	8.544e-05	0.0001	0.0001	4.799e-05	3.361e-05	5.375e-05	3.509e-05	0.0001	0	0	0	0	0	0	0.0001	0	0	0.001	0.78490	D	0.063	0.45110	T	0.045	0.21781	B	0.16	0.34752	B	0.009683	0.01250	U	771.080000	1	0.08975	N	.	.	.	9.44	0.00008	T	-3.35	0.68298	D	0.07	0.04307	-0.9506	0.40868	T	0.000	0.00075	T	10	0.0056905746	0.00126	T	.	.	.	0.186	0.46104	.	.	.	.	0.11310932799472559	0.11238	0.614770505073	0.55979	0.328787267208	0.14750	T	0.015394	0.12921	T	-0.50846	0.00512	T	-0.468836	0.25641	T	0.0708414355338504	0.08768	T	0.00459954	0.00014	T	.	.	.	.	.	.	.	.	-8.6	0.65089	D	.	.	0.183	0.39647	B	.;.;.	.;.;.	1.252472	0.16495	12.58	0.70026550487147099	0.09162	0.01832	0.05685	N	AEFDGBHCI	0.138209	0.25943	N	-1.20749607607456	0.04889	0.2216519	-1.4198435015477	0.03054	0.1417363	0.999999918893126	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.81	-2.67	0.05703	-3.847000	0.00395	.	.	-3.701000	0.00065	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4359:0.0:0.5641:0.0	8.222	0.30707	934	0.15400	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	chr6:31238984	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.09524	4671.92	173	chr6	31271207	.	G	T	4671.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=4.70;DP=3662;ExcessHet=0.6776;FS=0.647;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=50.74;MQRankSum=-3.502e+00;QD=5.80;ReadPosRankSum=-1.296e+00;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,36:148:99:0|1:31271206_G_C:899,0,4464:31271206	17	0	4	0
chr6	31356181	31356181	T	0	exonic	HLA-B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	57800.2	50	chr6	31356181	.	T	G,*	57800.2	.	AC=38,3;AF=0.905,0.071;AN=42;BaseQRankSum=1.60;DP=1491;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=38,3;MLEAF=0.905,0.071;MQ=50.44;MQRankSum=-8.849e+00;QD=30.79;ReadPosRankSum=-3.020e+00;SOR=0.902	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,69,7:76:48:0|1:31356168_A_C:3372,280,48,2173,0,1981:31356168	0	17	1	0
chr6	31356247	31356247	C	0	exonic	HLA-B	.	.	.	.	.	27	191	3	0	1301	1304	0.00779221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	21954.91	76	chr6	31356247	.	C	A,*	21954.91	.	AC=18,9;AF=0.429,0.214;AN=42;BaseQRankSum=5.54;DP=2356;ExcessHet=8.1482;FS=3.246;InbreedingCoeff=-0.3481;MLEAC=18,9;MLEAF=0.429,0.214;MQ=47.98;MQRankSum=-2.470e+00;QD=9.84;ReadPosRankSum=-1.782e+00;SOR=0.789	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,56,30:124:99:0|1:31356168_A_C:2119,0,1336,1003,286,2659:31356168	1	0	12	0
chr6	31356431	31356431	G	0	exonic	HLA-B	.	.	.	.	.	137	311	365	102	607	1176	0.47775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	9973.12	43	chr6	31356431	.	G	T,*	9973.12	.	AC=16,13;AF=0.381,0.310;AN=42;BaseQRankSum=1.15;DP=1007;ExcessHet=1.3217;FS=1.278;InbreedingCoeff=-0.0027;MLEAC=16,13;MLEAF=0.381,0.310;MQ=57.28;MQRankSum=-3.660e-01;QD=10.84;ReadPosRankSum=0.037;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,40,0:73:99:0|1:31356431_G_T:1580,0,1265,1680,1386,3065:31356431	2	3	5	0
chr6	31356716	31356717	CA	0	exonic	HLA-B	.	.	.	.	.	0	89	17	5	115	142	0.131707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	8236.57	83	chr6	31356716	.	CA	C,*	8236.57	.	AC=9,7;AF=0.214,0.167;AN=42;BaseQRankSum=0.225;DP=1092;ExcessHet=0.3152;FS=5.506;InbreedingCoeff=0.1923;MLEAC=9,7;MLEAF=0.214,0.167;MQ=54.99;MQRankSum=-6.619e+00;QD=10.81;ReadPosRankSum=-2.540e-01;SOR=1.129	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,42:42:99:1|1:31356711_C_CGGAG:1890,1890,1890,126,126,0:31356711	9	1	5	0
chr6	31356717	31356720	AGGT	0	exonic	HLA-B	.	.	.	.	.	38	705	540	138	101	917	0.366577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	6123.37	83	chr6	31356717	.	AGGT	A,*	6123.37	.	AC=7,9;AF=0.167,0.214;AN=42;BaseQRankSum=1.37;DP=1099;ExcessHet=0.3152;FS=5.478;InbreedingCoeff=0.1923;MLEAC=7,9;MLEAF=0.167,0.214;MQ=53.41;MQRankSum=-6.729e+00;QD=7.95;ReadPosRankSum=0.357;SOR=1.082	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,42,0:42:99:1|1:31356711_C_CGGAG:1890,126,0,1890,126,1890:31356711	9	1	3	0
chr6	31356719	31356720	GT	0	exonic	HLA-B	.	.	.	.	.	10	742	10	2	758	772	0.00934579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	8459.57	86	chr6	31356719	.	GT	G,*	8459.57	.	AC=9,7;AF=0.214,0.167;AN=42;BaseQRankSum=1.98;DP=1112;ExcessHet=0.3152;FS=5.449;InbreedingCoeff=0.1923;MLEAC=9,7;MLEAF=0.214,0.167;MQ=54.97;MQRankSum=-6.719e+00;QD=10.80;ReadPosRankSum=-1.130e-01;SOR=1.089	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,42:42:99:1|1:31356711_C_CGGAG:1890,1890,1890,126,126,0:31356711	9	1	5	0
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	858.89	101	chr6	31356748	.	CCT	*,C	858.89	.	AC=41,1;AF=0.976,0.024;AN=42;DP=2084;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=54.46;QD=0.42;SOR=1.514	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,45,24:69:99:0|1:31356746_T_C:2897,1008,872,1890,0,1817:31356746	0	20	0	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	29744.11	115	chr6	31356827	.	T	C,*	29744.11	.	AC=12,23;AF=0.286,0.548;AN=42;DP=3294;ExcessHet=2.5830;FS=0.696;InbreedingCoeff=-0.2000;MLEAC=12,23;MLEAF=0.286,0.548;MQ=51.01;QD=9.20;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,175:175:99:1|1:31356809_C_T:7814,7814,7814,527,527,0:31356809	0	5	0	0
chr6	31625601	31625601	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.T749C:p.M250T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.985	D	0.637	P	0.000	D	0.995	D	1.495	L	4.53	T	-0.837	T	0.008	T	0.68	1.237	10.02	5.06	2.122	3.154	13.917	0.142	0.0178076993305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.022e-07	6.841e-07	0	1.42e-06	9.161e-07	0	0	.	.	0	0	0	0	0	0	9.161e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.16	0.31427	T	0.985	0.61118	D	0.637	0.51992	P	0.000005	0.62929	D	0.000000	0.995498	0.42717	D	2.105	0.58435	M	4.53	0.01980	T	-4.28	0.76334	D	0.586	0.61680	-0.8368	0.52858	T	0.008	0.02720	T	10	0.43278176	0.57599	T	0.017808	0.39652	T	0.142	0.37995	0.195	0.10705	0.128874641272	0.12493	0.5487022548939708	0.54796	0.180877748463	0.20346	0.868078529835	0.92292	D	0.045246	0.27062	T	-0.000470291	0.51590	T	-0.238452	0.50949	T	0.941546738147736	0.61490	D	0.757724	0.38135	T	0.6803623	0.76989	0.726591	0.83849	0.6803623	0.76990	0.726591	0.83850	-10.319	0.75799	D	.	.	0.987	0.96107	P	.;.	.;.	3.901954	0.56841	23.8	0.93194787374129984	0.22862	0.76208	0.37359	D	AEFDBCI	0.190166	0.31740	N	0.457200889062192	0.64613	4.719805	0.475887910268732	0.66395	4.94659	0.999999757296763	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.242000	0.51082	.	.	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	13.917	0.63410	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	9616.67	116	chr6	31625601	.	T	C	9616.67	.	AC=19;AF=0.500;AN=38;BaseQRankSum=-3.022e+00;DP=2814;ExcessHet=36.0830;FS=243.392;InbreedingCoeff=-0.8806;MLEAC=20;MLEAF=0.526;MQ=59.99;MQRankSum=0.00;QD=3.79;ReadPosRankSum=1.23;SOR=12.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,18:141:99:0|1:31625601_T_C:99,0,4364:31625601	0	0	19	2
chr6	31625602	31625602	G	A	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750A:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.817	P	0.292	B	0.000	D	0.999	D	1.295	L	4.62	T	-0.628	T	0.004	T	0.668	2.651	14.83	5.06	2.628	4.365	17.348	0.179	0.0251130273271	7.7e-05	.	1.784e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs145609055	3.51e-06	4.788e-06	5.554e-06	1.42e-06	0.0001	1.03e-06	7.5e-07	4.163e-05	2.527e-05	0.0001	0	0	0	0	0	9.159e-07	0	0	6.577e-06	6.567e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.123	0.27544	T	0.045	0.49390	D	0.817	0.45613	P	0.292	0.40739	B	0.000005	0.62929	D	0.000000	0.999301	0.46608	D	2.105	0.58435	M	4.62	0.01834	T	-1.88	0.43906	N	0.361	0.40565	-0.6283	0.63643	T	0.004	0.01400	T	10	0.19789547	0.35739	T	0.025113	0.48090	D	0.179	0.44899	0.192	0.10304	0.19168177325	0.18762	0.40434125802200627	0.40350	0.17321795193	0.19509	0.804894983768	0.82710	D	0.021964	0.17018	T	-0.199437	0.20885	T	-0.287586	0.46022	T	0.45686399936676	0.31050	T	0.867413	0.56831	D	0.274247	0.50490	0.26731342	0.52588	0.274247	0.50490	0.26731342	0.52587	-5.343	0.40366	T	.	.	0.916	0.88221	P	.;.	.;.	4.189641	0.63134	24.5	0.9887765022119781	0.47771	0.95609	0.65407	D	AEFDBCI	0.573860	0.57688	D	0.38079905834961	0.60382	4.226512	0.455960616804997	0.65101	4.781292	0.999999999999631	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.736000	0.54774	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	17.348	0.87202	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	12029.36	116	chr6	31625602	.	G	A,C	12029.36	.	AC=18,1;AF=0.474,0.026;AN=38;BaseQRankSum=-3.662e+00;DP=2814;ExcessHet=36.0830;FS=285.280;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.500,0.026;MQ=59.99;MQRankSum=0.00;QD=4.75;ReadPosRankSum=1.13;SOR=13.038	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,18,0:141:99:0|1:31625601_T_C:99,0,4364,468,4417,4885:31625601	0	0	18	2
chr6	31625602	31625602	G	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750C:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.817	P	0.292	B	0.000	D	0.999	D	1.295	L	4.62	T	-0.628	T	0.004	T	0.668	2.530	14.42	5.06	2.628	4.365	17.348	0.179	0.0240778972107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.27544	T	0.045	0.49390	D	0.817	0.45613	P	0.292	0.40739	B	0.000005	0.62929	D	0.000000	0.999345	0.46733	D	2.105	0.58435	M	4.62	0.01834	T	-1.88	0.43906	N	0.361	0.40565	-0.6283	0.63643	T	0.004	0.01400	T	10	0.2299856	0.39939	T	0.024078	0.47063	T	0.179	0.44899	0.192	0.10304	0.187035705434	0.18338	0.40434127179304075	0.40350	0.17321795193	0.19509	0.804894983768	0.82710	D	0.021964	0.17018	T	-0.0346369	0.46741	T	-0.28753	0.46029	T	0.797656714916229	0.46194	D	0.867413	0.56831	D	0.274247	0.50490	0.26731342	0.52588	0.274247	0.50490	0.26731342	0.52587	-5.343	0.40366	T	.	.	0.916	0.88221	P	.;.	.;.	4.164074	0.62562	24.5	0.98851704410504837	0.47305	0.96934	0.71741	D	AEFDBCI	0.644900	0.62099	D	0.38079905834961	0.60382	4.226512	0.455960616804997	0.65101	4.781292	0.999999999999631	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.736000	0.54774	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	17.348	0.87202	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	12029.36	116	chr6	31625602	.	G	A,C	12029.36	.	AC=18,1;AF=0.474,0.026;AN=38;BaseQRankSum=-3.662e+00;DP=2814;ExcessHet=36.0830;FS=285.280;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.500,0.026;MQ=59.99;MQRankSum=0.00;QD=4.75;ReadPosRankSum=1.13;SOR=13.038	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,18,0:141:99:0|1:31625601_T_C:99,0,4364,468,4417,4885:31625601	0	0	18	2
chr6	31637269	31637269	C	G	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon30:c.C6278G:p.T2093R	.	.	409	1100	12	0	1	13	0.00542495	.	.	2354438	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.089	B	0.008	B	0.504	N	0.990	N	0	N	4.59	T	-0.873	T	0.002	T	0.245	1.537	11.09	5.04	1.473	2.345	13.520	0.085	0.00997595296051	0.0011	.	0.0006	0.0001	0.0004	0	0.0006	0.0007	0.0011	0.0008	0.0004851	75	154602	rs115306790	0.0005	0.0005	0.0005	0.0006	0.0023	0.0005	0.0005	0.0013	0.0011	2.988e-05	0.0004	0.0015	5.038e-05	0.0006	0.0023	0.0005	0.0006	0.0007	0.0005	0.0005	0.0004	0.0006	0.0008	0.0004	0.0004	0.0006	0.0006	4.812e-05	0	0.0001	0.0009	0.0004	0.0016	0.0034	0.0008	0	0	0.003	0.68238	D	0.025	0.56192	D	0.089	0.25085	B	0.008	0.13708	B	0.504316	0.11914	N	0.761042	0.989783	0.24254	N	0	0.06538	N	4.59	0.01885	T	-1.3	0.32590	N	0.367	0.41459	-0.8731	0.50295	T	0.002	0.00707	T	10	0.032936364	0.01457	T	0.009976	0.25968	T	0.085	0.24743	.	.	0.0675242888579	0.06100	0.2558363365434808	0.25497	0.178833483932	0.20123	0.486222445965	0.36915	T	0.008027	0.07391	T	-0.46433	0.00923	T	-0.53011	0.19275	T	0.0129608555596332	0.00224	T	0.738226	0.35599	T	0.17241795	0.37931	0.22701688	0.47698	0.17241795	0.37931	0.22701688	0.47697	-3.935	0.22828	T	.	.	0.269	0.50278	B	.;.	.;.	2.848456	0.37596	20.5	0.89406778148803701	0.18770	0.91253	0.53161	D	AEFDBHCI	0.528821	0.55019	D	-0.227630049196985	0.32004	1.800342	-0.0244943684078109	0.38613	2.277347	0.999997246821151	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.93	5.04	0.67293	2.498000	0.45023	.	.	0.576000	0.29215	0.882000	0.31029	0.999000	0.35428	0.436000	0.27583	0.1565:0.8435:0.0:0.0	13.520	0.61016	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2000.98	94	chr6	31637269	.	C	G	2000.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.32;DP=1417;ExcessHet=0.0000;FS=5.307;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.50;ReadPosRankSum=-1.167e+00;SOR=0.366	GT:AD:DP:GQ:PL	0/1:65,73:138:99:2015,0,1629	20	0	1	0
chr6	31656057	31656057	A	G	exonic	APOM	.	nonsynonymous SNV	APOM:NM_019101:exon1:c.A91G:p.T31A,	.	.	422	1070	29	1	0	31	0.0142791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.0	B	0.001	B	0.068	N	1.000	N	1.78	L	.	.	-0.998	T	0.024	T	0.041	0.524	6.838	-5.72	-0.665	-0.473	2.470	0.051	.	0.0039	0.00579073	0.0125	0.0013	0.0092	0.0083	0.0033	0.0155	0.0140	0.0137	0.0045536	704	154602	rs150345955	0.0044	0.0044	0.0040	0.0048	0.0256	0.0043	0.0043	0.0222	0.0209	0.0009	0.0047	0.0399	0.0009	0.0007	0.0256	0.0031	0.0072	0.0123	0.0046	0.0046	0.0041	0.0051	0.0133	0.0043	0.0042	0.0107	0.0097	0.0008	0	0.0067	0.0363	0.0023	0.0005	0.0238	0.0048	0.0081	0.0133	0.554	0.06502	T	0.722	0.05309	T	0.0	0.02946	B	0.001	0.04355	B	0.067749	0.21719	N	0.431594	1	0.20103	N	0.28	0.10031	N	.	.	.	-0.45	0.14782	N	0.037	0.01135	-0.9981	0.30451	T	0.024	0.10419	T	9	0.0020104945	0.00028	T	.	.	.	0.051	0.14325	.	.	0.0551355673512	0.04727	0.5968379005749489	0.59614	0.237888243689	0.26336	0.334143459797	0.15558	T	0.107038	0.41890	T	-0.691459	0.00041	T	-0.755622	0.03272	T	0.000514297947003674	0.00004	T	.	.	.	0.1760022	0.38489	0.0974176	0.23188	0.1760022	0.38489	0.0974176	0.23187	-3.217	0.12689	T	.	.	0.069	0.03060	B	.	.	0.009654	0.04351	1.112	0.72547327394282368	0.10012	0.10028	0.15645	N	AEFGBHCI	0.447920	0.50337	N	-0.909602298151685	0.10617	0.5081887	-0.938578513546603	0.11190	0.5684995	0.999999973862145	0.74766	0.679555	0.55442	0	0.379588	0.06130	0	0.600882	0.32295	2	0.727631	0.95156	0	.	.	5.16	-5.72	0.02211	-0.473000	0.06694	.	.	0.747000	0.86732	0.000000	0.06391	0.000000	0.08366	0.995000	0.73285	0.3636:0.3672:0.1584:0.1107	2.470	0.04283	889	0.27310	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	537.98	34	chr6	31656057	.	A	G	537.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.90;DP=737;ExcessHet=0.0000;FS=2.554;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=-3.560e-01;SOR=1.112	GT:AD:DP:GQ:PL	0/1:28,20:48:99:552,0,728	20	0	1	0
chr6	31719250	31719250	G	C	exonic	LY6G6C	.	nonsynonymous SNV	LY6G6C:NM_025261:exon3:c.C224G:p.A75G,	.	.	415	1077	29	1	0	31	0.0141876	.	.	710408	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.48	T	0.0	B	0.002	B	0.160	N	1.000	N	0	N	-2.74	D	-0.872	T	0.183	T	0.144	0.505	6.739	0.842	0.135	0.140	1.705	0.087	.	0.0039	0.00898562	0.0069	0.0006	0.0039	0.0157	0.0005	0.0068	0.0066	0.0112	0.0064876	1003	154602	rs117894946	0.0057	0.0057	0.0052	0.0061	0.0443	0.0056	0.0055	0.0426	0.0419	0.0010	0.0048	0.0398	0.0443	0.0007	0.0258	0.0032	0.0073	0.0122	0.0051	0.0051	0.0046	0.0055	0.0152	0.0048	0.0046	0.0125	0.0115	0.0008	0	0.0069	0.0363	0.0152	0.0005	0.0238	0.0049	0.0080	0.0134	0.397	0.11191	T	0.477	0.16717	T	0.0	0.02946	B	0.002	0.06944	B	0.160136	0.17689	N	0.473300	1	0.08975	N	0.46	0.12951	N	-2.74	0.90735	D	-1.33	0.33197	N	0.086	0.06322	-0.8717	0.50401	T	0.183	0.53118	T	10	0.0016444623	0.00020	T	.	.	.	0.087	0.25287	.	.	0.0986583533028	0.09354	0.39497276819247984	0.39412	0.350227071823	0.36867	0.352285891771	0.18258	T	0.026541	0.19622	T	-0.414327	0.01861	T	-0.356897	0.38410	T	0.00149840095944933	0.00015	T	.	.	.	0.033119746	0.03467	0.05336692	0.08975	0.033119746	0.03467	0.05336692	0.08975	-3.533	0.16897	T	.	.	0.098	0.23077	B	.;.	.;.	1.056704	0.14384	10.96	0.90474642300220276	0.19732	0.01775	0.05566	N	AEFBI	0.071334	0.14196	N	-1.02058554680631	0.08177	0.3825018	-0.966148112167591	0.10551	0.5321079	0.999613741785482	0.40981	0.516011	0.20929	0	0.610034	0.51514	0	0.527494	0.11647	0	0.586402	0.36253	0	.	.	5.03	0.842	0.18064	0.154000	0.16160	.	.	0.604000	0.46097	0.002000	0.15269	0.000000	0.08366	0.829000	0.39076	0.1919:0.1604:0.4829:0.1648	1.705	0.02706	889	0.27310	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1640.98	34	chr6	31719250	.	G	C	1640.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.400e-01;DP=914;ExcessHet=0.0000;FS=4.831;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.80;ReadPosRankSum=1.32;SOR=0.412	GT:AD:DP:GQ:PL	0/1:82,70:152:99:1655,0,2062	20	0	1	0
chr6	31779733	31779733	C	T	exonic	VARS1	.	nonsynonymous SNV	VARS1:NM_006295:exon27:c.G3163A:p.V1055I,	.	.	420	1076	26	0	0	26	0.0119376	.	.	710410	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.38	T	0.69	P	0.205	B	0.000	N	1.000	D	1.95	M	2.58	T	-1.005	T	0.015	T	0.094	0.630	7.388	3.54	0.647	0.609	10.026	0.062	.	0.0043	0.0103834	0.0069	0.0008	0.0038	0.0136	0.0005	0.0061	0.0059	0.0143	0.0062806	971	154602	rs5030798	0.0055	0.0055	0.0050	0.0060	0.0440	0.0054	0.0054	0.0423	0.0416	0.0007	0.0044	0.0311	0.0440	0.0007	0.0206	0.0030	0.0068	0.0153	0.0047	0.0047	0.0042	0.0052	0.0159	0.0044	0.0043	0.0131	0.0120	0.0008	0	0.0063	0.0262	0.0143	0.0005	0.0204	0.0046	0.0062	0.0159	0.409	0.10180	T	0.418	0.14200	T	0.69	0.41631	P	0.205	0.37080	B	0.000087	0.51296	N	0.128615	0.987247	0.24536	N	2.075	0.57047	M	2.58	0.13434	T	-0.67	0.19297	N	0.156	0.16168	-1.0054	0.28337	T	0.015	0.05946	T	10	0.004672885	0.00098	T	.	.	.	0.062	0.17934	.	.	0.250512400709	0.24649	0.2745190858688172	0.27364	0.370001137427	0.38527	0.428485929966	0.29001	T	0.005444	0.04891	T	-0.651454	0.00071	T	-0.696221	0.06035	T	0.00591169167620866	0.00065	T	.	.	.	0.016296592	0.00188	0.07550983	0.16630	0.016296592	0.00188	0.07550983	0.16629	-6.096	0.47076	T	.	.	0.084	0.09723	B	.	.	1.129263	0.15156	11.63	0.9357667089964874	0.23421	0.46234	0.27715	N	AEFBCI	0.116620	0.22881	N	-0.540251191564904	0.20791	1.098625	-0.585729892632792	0.19864	1.067732	0.999686028024376	0.41756	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.3	3.54	0.39650	0.311000	0.19129	.	.	-0.800000	0.03169	0.001000	0.13787	0.001000	0.17328	0.335000	0.25317	0.0:0.8341:0.0:0.1659	10.026	0.41243	895	0.25842	Methionyl/Valyl/Leucyl/Isoleucyl-tRNA synthetase, anticodon-binding|Valyl tRNA synthetase, anticodon-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1400.98	40	chr6	31779733	.	C	T	1400.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.32;DP=872;ExcessHet=0.0000;FS=3.089;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.46;ReadPosRankSum=1.08;SOR=0.921	GT:AD:DP:GQ:PL	0/1:73,61:134:99:1415,0,1643	20	0	1	0
chr6	31869232	31869232	G	C	exonic	SLC44A4	.	nonsynonymous SNV	SLC44A4:NM_001178044:exon12:c.C1030G:p.Q344E	.	.	423	1074	25	0	0	25	0.0115048	.	.	710422	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.09	T	0.0	B	0.002	B	.	.	0.997	N	1.22	L	2.0	T	-1.025	T	0.022	T	0.293	2.410	14.02	4.79	1.385	3.982	13.853	0.077	.	0.0043	0.00878594	0.0065	0.0007	0.0039	0.0131	0.0005	0.0061	0.0048	0.0125	0.0057891	895	154602	rs117127493	0.0052	0.0052	0.0048	0.0056	0.0402	0.0051	0.0050	0.0386	0.0379	0.0008	0.0044	0.0309	0.0402	0.0007	0.0202	0.0030	0.0065	0.0119	0.0046	0.0046	0.0042	0.0051	0.0135	0.0043	0.0042	0.0108	0.0099	0.0009	0	0.0064	0.0265	0.0133	0.0005	0.0204	0.0047	0.0062	0.0135	0.078	0.33923	T	0.319	0.20357	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	0.998247	0.22858	N	1.715	0.44382	L	2.0	0.21473	T	-0.46	0.17003	N	0.418	0.50508	-1.0252	0.22017	T	0.022	0.09147	T	9	0.00639078	0.00145	T	.	.	.	0.077	0.22490	.	.	0.112648838833	0.10856	0.43523957592595125	0.43440	0.321883225191	0.34388	0.340873539448	0.16569	T	0.005345	0.04790	T	-0.49694	0.00595	T	-0.476209	0.24851	T	0.0134966109091628	0.00247	T	.	.	.	0.2327637	0.46069	0.31292823	0.57293	0.28253552	0.51290	0.31292823	0.57292	-4.207	0.26853	T	.	.	0.064	0.02228	B	.;.;.;.	.;.;.;.	3.356537	0.46317	22.3	0.9855314332973758	0.42871	0.83893	0.42985	D	AEFDBI	0.703168	0.65929	D	-0.0889971066839063	0.37874	2.209861	0.0838769118871218	0.43739	2.669406	0.897160004420779	0.25995	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.67	4.79	0.60909	3.154000	0.50391	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.1533:0.8467:0.0	13.853	0.63005	912	0.21483	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1910.98	40	chr6	31869232	.	G	C	1910.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.990e+00;DP=1002;ExcessHet=0.0000;FS=5.627;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.44;ReadPosRankSum=-1.070e-01;SOR=0.403	GT:AD:DP:GQ:PL	0/1:85,82:167:99:1925,0,2181	20	0	1	0
chr6	32064851	32064851	C	G	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon19:c.G6811C:p.V2271L	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	2	1489	31	0	0	31	0.0103024	.	.	252300	not_specified|not_provided|Cardiovascular_phenotype|Ehlers-Danlos_syndrome	MedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.68	T	0.005	B	0.017	B	0.738	N	1.000	N	1.505	L	3.65	T	-0.909	T	0.003	T	0.078	1.940	12.44	-8.27	-1.753	-2.037	2.804	0.025	.	0.0042	0.00858626	0.0064	0.0009	0.0035	0.0131	0.0005	0.0061	0.0047	0.0113	0.0057438	888	154602	rs140770834	0.0053	0.0053	0.0049	0.0057	0.0400	0.0052	0.0051	0.0384	0.0377	0.0021	0.0048	0.0296	0.0400	0.0007	0.0235	0.0031	0.0065	0.0119	0.0049	0.0049	0.0044	0.0054	0.0135	0.0046	0.0045	0.0110	0.0100	0.0015	0	0.0066	0.0251	0.0135	0.0005	0.0204	0.0048	0.0066	0.0135	0.304	0.14303	T	0.285	0.21343	T	.	.	.	.	.	.	0.738196	0.06411	N	1.179880	1	0.08975	N	.	.	.	3.65	0.04267	T	-0.89	0.24026	N	0.057	0.02861	-0.9091	0.46965	T	0.003	0.00929	T	10	0.004063517	0.00079	T	.	.	.	0.025	0.05312	.	.	0.123314135267	0.11883	.	.	.	.	0.314401507378	0.12573	T	0.034229	0.23238	T	-0.723928	0.00026	T	-0.802261	0.01846	T	0.00382978151694769	0.00041	T	0.0770923	0.00568	T	0.070420764	0.15508	0.044852845	0.05903	0.058034055	0.11625	0.06733073	0.13913	-6.37	0.49275	T	0.12868766263925635	0.13357	0.159	0.35162	B	.;.;.	.;.;.	-1.546072	0.00268	0.004	0.80886153941094774	0.13416	0.00350	0.01805	N	AEFBI	0.070644	0.14031	N	-1.67153355631251	0.00948	0.04104736	-1.77717044078112	0.00835	0.03729989	0.995233291665387	0.34019	0.549168	0.22868	0	0.627178	0.54094	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.82	-8.27	0.00892	-2.248000	0.01271	.	.	-4.179000	0.00039	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0889:0.2928:0.2641:0.3542	2.804	0.05089	917	0.20147	Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1943.98	53	chr6	32064851	.	C	G	1943.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.140e-01;DP=998;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.57;ReadPosRankSum=1.06;SOR=0.715	GT:AD:DP:GQ:PL	0/1:98,86:184:99:1958,0,2415	20	0	1	0
chr6	32223891	32223893	AGC	-	exonic	NOTCH4	.	nonframeshift deletion	NOTCH4:NM_004557:exon1:c.36_38del:p.L16del,	.	.	432	105	159	158	668	1143	0.693431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	22774.05	25	chr6	32223881	.	TAGCAGCAGCAGC	TAGCAGCAGC,T,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGC	22774.05	.	AC=10,14,2,6;AF=0.238,0.333,0.048,0.143;AN=42;BaseQRankSum=0.453;DP=1004;ExcessHet=6.1002;FS=1.974;InbreedingCoeff=-0.3125;MLEAC=10,14,2,6;MLEAF=0.238,0.333,0.048,0.143;MQ=60.00;MQRankSum=0.00;QD=28.57;ReadPosRankSum=0.242;SOR=0.872	GT:AD:DP:GQ:PL	0/1:17,18,0,0,0:35:99:688,0,637,739,692,1431,739,692,1431,1431,739,692,1431,1431,1431	0	1	4	0
chr6	32223893	32223893	-	AGCAGCAGC	exonic	NOTCH4	.	nonframeshift insertion	NOTCH4:NM_004557:exon1:c.35_36insGCTGCTGCT:p.L16_C17insLLL,	.	.	432	105	159	158	668	1143	0.693431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	22774.05	25	chr6	32223881	.	TAGCAGCAGCAGC	TAGCAGCAGC,T,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGC	22774.05	.	AC=10,14,2,6;AF=0.238,0.333,0.048,0.143;AN=42;BaseQRankSum=0.453;DP=1004;ExcessHet=6.1002;FS=1.974;InbreedingCoeff=-0.3125;MLEAC=10,14,2,6;MLEAF=0.238,0.333,0.048,0.143;MQ=60.00;MQRankSum=0.00;QD=28.57;ReadPosRankSum=0.242;SOR=0.872	GT:AD:DP:GQ:PL	0/1:17,18,0,0,0:35:99:688,0,637,739,692,1431,739,692,1431,1431,739,692,1431,1431,1431	0	1	4	0
chr6	32223893	32223893	-	AGC	exonic	NOTCH4	.	nonframeshift insertion	NOTCH4:NM_004557:exon1:c.35_36insGCT:p.L16_C17insL,	.	.	432	105	159	158	668	1143	0.693431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	22774.05	25	chr6	32223881	.	TAGCAGCAGCAGC	TAGCAGCAGC,T,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGC	22774.05	.	AC=10,14,2,6;AF=0.238,0.333,0.048,0.143;AN=42;BaseQRankSum=0.453;DP=1004;ExcessHet=6.1002;FS=1.974;InbreedingCoeff=-0.3125;MLEAC=10,14,2,6;MLEAF=0.238,0.333,0.048,0.143;MQ=60.00;MQRankSum=0.00;QD=28.57;ReadPosRankSum=0.242;SOR=0.872	GT:AD:DP:GQ:PL	0/1:17,18,0,0,0:35:99:688,0,637,739,692,1431,739,692,1431,1431,739,692,1431,1431,1431	0	1	4	0
chr6	32521977	32521978	TG	0	exonic	HLA-DRB5	.	.	.	.	.	68	790	259	133	272	797	0.249406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	31947.07	20	chr6	32521977	.	TG	T,CG,*,TCCG	31947.07	.	AC=10,5,5,2;AF=0.238,0.119,0.119,0.048;AN=42;BaseQRankSum=2.83;DP=2813;ExcessHet=0.0007;FS=6.870;InbreedingCoeff=0.6182;MLEAC=10,5,5,2;MLEAF=0.238,0.119,0.119,0.048;MQ=49.85;MQRankSum=-1.379e+00;QD=24.07;ReadPosRankSum=-3.581e+00;SOR=0.940	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,6,163,0,0:169:99:.:.:7290,7046,7065,491,239,0,7296,7067,491,7313,7296,7067,491,7313,7313	8	2	3	0
chr6	32521978	32521979	GT	0	exonic	HLA-DRB5	.	.	.	.	.	198	662	145	14	503	676	0.115564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	3841.37	20	chr6	32521978	.	GT	G,*	3841.37	.	AC=4,17;AF=0.100,0.425;AN=40;BaseQRankSum=4.25;DP=2847;ExcessHet=0.7352;FS=10.579;InbreedingCoeff=0.1102;MLEAC=4,18;MLEAF=0.100,0.450;MQ=55.69;MQRankSum=-5.960e+00;QD=2.22;ReadPosRankSum=-4.343e+00;SOR=0.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:0,0,6:169:19:.:.:244,250,267,0,21,19	5	0	4	1
chr6	32522156	32522156	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	50186.86	152	chr6	32522156	.	T	A,G,*,C	50186.86	.	AC=14,6,6,1;AF=0.368,0.158,0.158,0.026;AN=38;BaseQRankSum=-2.391e+00;DP=2479;ExcessHet=0.0000;FS=4.483;InbreedingCoeff=0.8143;MLEAC=15,7,7,1;MLEAF=0.395,0.184,0.184,0.026;MQ=47.59;MQRankSum=-1.347e+01;QD=31.15;ReadPosRankSum=3.03;SOR=0.362	GT:AD:DP:GQ:PGT:PID:PL:PS	1|3:0,21,0,25,0:46:99:0|1:32522156_T_*:1932,1050,987,1932,1050,1932,882,0,882,807,1932,1050,1932,882,1932:32522156	5	1	0	2
chr6	32522157	32522157	C	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	11250.32	146	chr6	32522157	.	C	G,*	11250.32	.	AC=10,6;AF=0.250,0.150;AN=40;BaseQRankSum=-1.800e-01;DP=2451;ExcessHet=0.0017;FS=0.000;InbreedingCoeff=0.5718;MLEAC=10,7;MLEAF=0.250,0.175;MQ=47.72;MQRankSum=-1.968e+00;QD=12.26;ReadPosRankSum=3.14;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,21,25:46:99:0|1:32522156_T_*:1932,1050,987,882,0,807:32522156	10	1	3	1
chr6	32522159	32522159	T	0	exonic	HLA-DRB5	.	.	.	.	.	220	823	360	108	11	587	0.259226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	11366.22	146	chr6	32522159	.	T	*,A	11366.22	.	AC=7,9;AF=0.167,0.214;AN=42;BaseQRankSum=-3.000e-01;DP=2451;ExcessHet=0.0011;FS=0.000;InbreedingCoeff=0.5934;MLEAC=6,10;MLEAF=0.143,0.238;MQ=47.73;MQRankSum=-1.671e+00;QD=12.50;ReadPosRankSum=3.36;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,26,21:47:99:0|1:32522156_T_*:1974,882,804,1092,0,1029:32522156	11	0	2	0
chr6	32530183	32530185	CTT	0	exonic	HLA-DRB5	.	.	.	.	.	1	58	89	55	23	222	0.631746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14818.53	115	chr6	32530183	.	CTT	*,C	14818.53	.	AC=5,17;AF=0.119,0.405;AN=42;BaseQRankSum=2.59;DP=2163;ExcessHet=0.2144;FS=6.037;InbreedingCoeff=0.1918;MLEAC=5,18;MLEAF=0.119,0.429;MQ=53.28;MQRankSum=-6.845e+00;QD=10.59;ReadPosRankSum=-2.181e+00;SOR=1.086	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,21:23:68:.:.:986,883,843,69,68,0	6	1	2	0
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	37739.64	115	chr6	32530184	.	T	G,*,A	37739.64	.	AC=12,22,3;AF=0.286,0.524,0.071;AN=42;BaseQRankSum=-6.320e-01;DP=2340;ExcessHet=1.1607;FS=2.132;InbreedingCoeff=-0.1351;MLEAC=12,23,2;MLEAF=0.286,0.548,0.048;MQ=55.50;MQRankSum=0.00;QD=16.93;ReadPosRankSum=1.02;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,21,2:23:20:1|1:32530184_T_*:986,883,843,69,68,0,699,692,20,651:32530184	0	3	1	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	53589.95	112	chr6	32530185	.	T	TGC,*,C	53589.95	.	AC=5,18,14;AF=0.119,0.429,0.333;AN=42;BaseQRankSum=0.157;DP=2296;ExcessHet=1.1607;FS=2.990;InbreedingCoeff=-0.1351;MLEAC=5,18,14;MLEAF=0.119,0.429,0.333;MQ=55.53;MQRankSum=0.00;QD=24.29;ReadPosRankSum=-2.360e-01;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,21,0:23:68:1|1:32530184_T_*:986,883,843,69,68,0,883,843,68,843:32530184	0	1	0	0
chr6	32584171	32584171	G	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon3:c.281+1C>0;NM_001243965:exon4:c.282-1C>0	.	.	.	.	212	511	370	121	308	920	0.374541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	28452.78	197	chr6	32584171	.	G	*,T,A	28452.78	.	AC=8,10,1;AF=0.200,0.250,0.025;AN=40;BaseQRankSum=-1.190e-01;DP=4168;ExcessHet=6.7470;FS=3.321;InbreedingCoeff=-0.2727;MLEAC=8,10,1;MLEAF=0.200,0.250,0.025;MQ=53.84;MQRankSum=-1.211e+00;QD=8.51;ReadPosRankSum=1.10;SOR=0.481	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:172,108,0,0:280:99:0|1:32584161_G_A:4017,0,6897,4535,7222,11757,4535,7222,11757,11757:32584161	4	0	6	1
chr6	32584177	32584178	CG	0	exonic	HLA-DRB1	.	.	.	.	.	55	575	391	86	415	978	0.328663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	39726.1	222	chr6	32584177	.	CG	C,*	39726.1	.	AC=8,13;AF=0.190,0.310;AN=42;BaseQRankSum=2.29;DP=4443;ExcessHet=11.2363;FS=1.783;InbreedingCoeff=-0.4286;MLEAC=8,13;MLEAF=0.190,0.310;MQ=53.58;MQRankSum=-2.856e+00;QD=10.49;ReadPosRankSum=-6.830e-01;SOR=0.558	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:196,124,0:320:99:0|1:32584161_G_A:4617,0,7857,5207,8230,13437:32584161	3	0	6	0
chr6	32584178	32584178	G	0	exonic	HLA-DRB1	.	.	.	.	.	53	515	203	35	716	989	0.209517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	19514.62	219	chr6	32584178	.	G	GCT,*	19514.62	.	AC=5,20;AF=0.119,0.476;AN=42;BaseQRankSum=-6.100e-02;DP=4440;ExcessHet=2.4516;FS=0.559;InbreedingCoeff=-0.0871;MLEAC=5,20;MLEAF=0.119,0.476;MQ=50.67;MQRankSum=1.24;QD=5.44;ReadPosRankSum=2.19;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,195,124:319:99:0|1:32584178_G_GCT:13376,5204,4617,8178,0,7857:32584178	3	0	1	0
chr6	32584184	32584184	G	0	exonic	HLA-DRB1	.	.	.	.	.	80	969	165	64	244	537	0.131331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	7031.51	227	chr6	32584184	.	G	GT,*,GTC	7031.51	.	AC=6,5,1;AF=0.150,0.125,0.025;AN=40;BaseQRankSum=3.49;DP=4835;ExcessHet=3.2961;FS=2.645;InbreedingCoeff=-0.1959;MLEAC=6,5,1;MLEAF=0.150,0.125,0.025;MQ=53.60;MQRankSum=-4.261e+00;QD=2.53;ReadPosRankSum=-3.096e+00;SOR=0.915	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:143,0,216,0:359:99:0|1:32584178_G_GCT:8639,9070,15074,0,6005,5354,9070,15074,6005,15074:32584178	9	0	5	1
chr6	32584184	32584184	-	TC	exonic	HLA-DRB1	.	frameshift insertion	HLA-DRB1:NM_002124:exon2:c.294_295insGA:p.Q99Dfs*31,	.	.	80	969	165	64	244	537	0.131331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.94e-05	0	0	0	0	0.0001	0	0	0.0016905	44	26028	rs28986201	2.344e-06	2.239e-05	4.721e-06	0	3.106e-06	3.9e-07	1.5e-07	5.2e-07	1.9e-07	0	0	0	0	0	0	3.106e-06	0	0	0	3.383e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	7031.51	227	chr6	32584184	.	G	GT,*,GTC	7031.51	.	AC=6,5,1;AF=0.150,0.125,0.025;AN=40;BaseQRankSum=3.49;DP=4835;ExcessHet=3.2961;FS=2.645;InbreedingCoeff=-0.1959;MLEAC=6,5,1;MLEAF=0.150,0.125,0.025;MQ=53.60;MQRankSum=-4.261e+00;QD=2.53;ReadPosRankSum=-3.096e+00;SOR=0.915	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:143,0,216,0:359:99:0|1:32584178_G_GCT:8639,9070,15074,0,6005,5354,9070,15074,6005,15074:32584178	9	0	5	1
chr6	32584185	32584185	C	0	exonic	HLA-DRB1	.	.	.	.	.	82	1001	166	64	209	503	0.128049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	6470.95	227	chr6	32584185	.	C	CT,*	6470.95	.	AC=6,5;AF=0.150,0.125;AN=40;BaseQRankSum=2.10;DP=4843;ExcessHet=2.2868;FS=2.608;InbreedingCoeff=-0.1376;MLEAC=6,5;MLEAF=0.150,0.125;MQ=53.44;MQRankSum=-6.590e+00;QD=2.58;ReadPosRankSum=-3.178e+00;SOR=0.915	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:143,0,216:359:99:0|1:32584178_G_GCT:8639,9070,15074,0,6005,5354:32584178	10	0	5	1
chr6	32761836	32761836	T	C	exonic	HLA-DQB2	.	nonsynonymous SNV	HLA-DQB2:NM_001198858:exon2:c.A188G:p.E63G	.	.	0	1474	45	3	0	51	0.0170057	.	.	2822947	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.868	U	0.988	N	3.58	H	7.77	T	-0.775	T	0.233	T	0.343	3.273	16.99	2.26	0.490	4.618	8.051	0.137	.	.	0.00439297	0.0132	0.0031	0.0024	0.0009	0.0073	0.0198	0.0117	0.0082	0.0074902	1158	154602	rs115793818	0.0086	0.0087	0.0086	0.0087	0.0099	0.0085	0.0085	0.0091	0.0090	0.0040	0.0027	0.0304	0.0006	0.0051	0.0099	0.0092	0.0084	0.0053	0.0065	0.0065	0.0068	0.0063	0.0091	0.0062	0.0061	0.0085	0.0083	0.0029	0	0.0031	0.0288	0.0010	0.0060	0.0034	0.0091	0.0076	0.0048	0.0	0.91255	D	0.011	0.64786	D	1.0	0.90584	D	1.0	0.97372	D	0.867854	0.07157	U	1.097550	0.987679	0.24492	N	.	.	.	7.77	0.00338	T	-6.74	0.92648	D	0.425	0.46462	-0.7755	0.56553	T	0.233	0.59965	T	10	0.009718716	0.00219	T	.	.	.	0.137	0.36984	.	.	0.324986149311	0.32103	0.8822721149249012	0.88195	1.52937882776	0.87560	.	.	.	0.056207	0.30222	T	-0.422119	0.01659	T	-0.371159	0.36753	T	0.132767829360947	0.15636	T	.	.	.	.	.	.	.	.	.	.	.	-9.118	0.68453	D	.	.	0.482	0.63937	A	.;.;.	.;.;.	4.135670	0.61922	24.4	0.9960792757236383	0.74634	0.75301	0.36862	D	AEFDBCI	0.507824	0.53796	D	-0.148173745641328	0.35311	2.026715	-0.285778328430731	0.28566	1.593756	0.243303755062578	0.18596	0.634777	0.41761	0	0.643519	0.57511	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	3.48	2.26	0.27418	3.349000	0.51931	.	.	0.591000	0.32079	0.997000	0.40164	0.036000	0.21445	0.014000	0.10232	0.0:0.0:0.2068:0.7932	8.051	0.29742	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	DXO	Heart_Left_Ventricle	.	.	rs115793818	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2414.98	95	chr6	32761836	.	T	C	2414.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.621e+00;DP=2280;ExcessHet=0.0000;FS=3.572;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.82;ReadPosRankSum=3.27;SOR=0.752	GT:AD:DP:GQ:PL	0/1:141,105:246:99:2429,0,3682	20	0	1	0
chr6	32976351	32976351	C	T	exonic	BRD2	.	nonsynonymous SNV	BRD2:NM_001199455:exon5:c.C712T:p.L238F	.	.	421	1092	9	0	0	9	0.00410397	.	.	710441	BRD2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.67	T	0.901	P	0.565	P	0.000	D	1.000	D	1.025	L	3.31	T	-0.913	T	0.014	T	0.617	2.589	14.62	5.33	2.932	2.709	16.901	0.106	0.0077749894599	0.0047	0.00119808	0.0052	0.0005	0.0009	0.0005	0.0041	0.0084	0.0034	0.0018	0.004987	771	154602	rs176250	0.0046	0.0046	0.0045	0.0047	0.0049	0.0045	0.0045	0.0043	0.0043	0.0006	0.0014	0.0374	7.557e-05	0.0037	0.0049	0.0044	0.0058	0.0021	0.0048	0.0048	0.0048	0.0047	0.0064	0.0045	0.0044	0.0059	0.0057	0.0009	0.0779	0.0015	0.0357	0.0002	0.0019	0.0034	0.0064	0.0033	0.0023	0.353	0.15561	T	0.263	0.29153	T	0.813	0.45457	P	0.565	0.49728	P	0.000403	0.44736	D	0.000000	1	0.81001	D	1.655	0.42436	L	3.31	0.06602	T	-0.97	0.29933	N	0.403	0.44379	-0.9126	0.46531	T	0.014	0.05369	T	10	0.0048858523	0.00104	T	0.007775	0.20616	T	0.106	0.30130	.	.	0.312529679308	0.30857	0.24352432941052563	0.24266	.	.	0.671112000942	0.62996	T	0.159649	0.50317	T	-0.422017	0.01661	T	-0.373425	0.36488	T	0.0269985385223001	0.01544	T	0.647735	0.25884	T	0.15953405	0.35832	0.19742976	0.43524	0.15953405	0.35831	0.19742976	0.43523	-5.348	0.40601	T	.	.	0.142	0.41047	B	.;.;.;.;.	.;.;.;.;.	3.590678	0.50670	23.0	0.99585318522222022	0.73277	0.95971	0.66952	D	AEFDBHCI	0.794105	0.72191	D	0.288115126983226	0.55546	3.718589	0.377759205152658	0.60194	4.204556	0.999999999999999	0.74766	0.645754	0.44609	0	0.672317	0.65289	0	0.696144	0.63334	0	0.638787	0.57140	0	.	.	5.33	5.33	0.75683	2.316000	0.43421	.	.	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	16.901	0.85980	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	0.02381	4571.98	115	chr6	32976351	.	C	T	4571.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.60;DP=2456;ExcessHet=0.0000;FS=0.760;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=-3.020e-01;SOR=0.641	GT:AD:DP:GQ:PL	0/1:211,182:393:99:4586,0,5376	20	0	1	0
chr6	33320019	33320019	G	C	exonic	DAXX	.	nonsynonymous SNV	DAXX:NM_001254717:exon4:c.C1232G:p.A411G	.	.	391	1087	42	2	0	46	0.0207207	.	.	721989	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.38	T	0.033	B	0.036	B	0.016	N	1.000	N	0	N	3.55	T	-0.911	T	0.003	T	0.08	0.397	6.154	-1.84	-0.398	0.288	6.405	0.007	.	0.0068	0.00858626	0.0093	0.0017	0.0040	0.0069	0.0020	0.0096	0.0113	0.0208	0.0014553	225	154602	rs146304558	0.0086	0.0086	0.0082	0.0091	0.0195	0.0085	0.0085	0.0187	0.0184	0.0015	0.0041	0.0211	0.0028	0.0015	0.0147	0.0085	0.0079	0.0195	0.0061	0.0061	0.0065	0.0056	0.0195	0.0057	0.0056	0.0163	0.0151	0.0014	0	0.0045	0.0193	0.0035	0.0020	0.0102	0.0085	0.0066	0.0195	0.119	0.28520	T	0.26	0.25061	T	0.033	0.20350	B	0.036	0.22909	B	0.016189	0.01435	N	2.621750	1	0.08975	N	0.69	0.16971	N	3.55	0.04746	T	-0.06	0.07882	N	0.184	0.20793	-0.9107	0.46768	T	0.003	0.00864	T	10	0.0019952655	0.00028	T	.	.	.	0.007	0.00512	.	.	0.248133497653	0.24425	0.027666118405061925	0.02716	0.121482305257	0.13691	0.293815732002	0.09482	T	0.228165	0.59364	T	-0.661	0.00062	T	-0.706662	0.05469	T	0.000391966671527189	0.00003	T	.	.	.	0.034339648	0.03834	0.07082536	0.15094	0.05050827	0.09134	0.07082536	0.15093	-3.71	0.20969	T	.	.	0.082	0.13737	B	.;.;.;.	.;.;.;.	1.618229	0.20675	14.86	0.62516084524372117	0.06983	0.23889	0.22220	N	AEFGBHCI	0.064341	0.12488	N	-1.30553392466674	0.03611	0.1616189	-1.30836099513516	0.04321	0.203565	0.999932882190131	0.46732	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.635259	0.50027	0	.	.	4.03	-1.84	0.07387	0.387000	0.20445	0.426000	0.18273	0.650000	0.52971	0.271000	0.25055	0.184000	0.23444	0.944000	0.48669	0.1501:0.0:0.4955:0.3544	6.405	0.20865	587	0.69154	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	2863.68	38	chr6	33320019	.	G	C	2863.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-4.230e-01;DP=978;ExcessHet=0.3300;FS=4.934;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.81;ReadPosRankSum=-1.085e+00;SOR=0.750	GT:AD:DP:GQ:PL	0/1:66,39:105:99:988,0,1588	18	0	3	0
chr6	33404029	33404029	G	A	exonic	KIFC1	.	nonsynonymous SNV	KIFC1:NM_002263:exon6:c.G656A:p.R219Q,	.	.	412	1067	42	1	0	44	0.020202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.013	B	0.002	B	0.587	N	1.000	N	0.69	N	-1.33	T	-1.034	T	0.099	T	0.056	-0.001	4.009	0.297	0.173	-0.349	3.114	0.108	.	0.0066	0.00898562	0.0089	0.0020	0.0035	0.0065	0.0018	0.0093	0.0088	0.0199	0.0084928	1313	154602	rs61736175	0.0085	0.0085	0.0080	0.0090	0.0182	0.0083	0.0083	0.0174	0.0171	0.0017	0.0039	0.0223	0.0027	0.0014	0.0135	0.0083	0.0078	0.0182	0.0061	0.0061	0.0065	0.0056	0.0184	0.0057	0.0056	0.0153	0.0142	0.0016	0	0.0041	0.0199	0.0035	0.0020	0.0136	0.0085	0.0066	0.0184	0.62	0.05309	T	0.58	0.08505	T	0.013	0.16609	B	0.002	0.06944	B	0.587486	0.11082	N	0.821323	1	0.08975	N	1.32	0.33002	L	-1.33	0.79854	T	0.75	0.02007	N	0.086	0.06322	-1.0342	0.19109	T	0.099	0.36983	T	10	0.0032759309	0.00056	T	.	.	.	0.108	0.30607	.	.	0.758637590366	0.75644	0.18763110196947	0.18681	0.447445100316	0.44600	0.210918799043	0.00851	T	0.014264	0.12177	T	-0.541748	0.00327	T	-0.536024	0.18690	T	0.000301284946156845	0.00002	T	.	.	.	0.0146959955	0.00104	0.028547987	0.01101	0.0146959955	0.00104	0.028547987	0.01101	-4.48	0.30626	T	.	.	0.064	0.01622	B	.	.	0.249347	0.06286	2.745	0.89166591148968233	0.18567	0.08586	0.14495	N	AEFBCI	0.078759	0.15897	N	-1.02043871544408	0.08180	0.3826558	-1.00375510592156	0.09703	0.4842453	0.992500774861752	0.32863	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.17	0.297	0.15011	-0.310000	0.08175	-0.120000	0.11732	-0.123000	0.13640	0.002000	0.15269	0.000000	0.08366	0.040000	0.14268	0.3968:0.0:0.4018:0.2014	3.114	0.05984	369	0.84396	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	4803.68	34	chr6	33404029	.	G	A	4803.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=3.62;DP=1025;ExcessHet=0.3300;FS=1.735;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.09;ReadPosRankSum=-3.650e-01;SOR=0.788	GT:AD:DP:GQ:PL	0/1:68,49:117:99:1420,0,1797	18	0	3	0
chr6	36291365	36291365	A	G	exonic	PNPLA1	.	nonsynonymous SNV	PNPLA1:NM_001145717:exon2:c.A251G:p.K84R	Ichthyosis, congenital, autosomal recessive 10, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.23	B	0.175	B	0.084	U	1.000	N	0.69	N	-1.03	T	-0.990	T	0.142	T	0.147	3.036	16.13	4.1	0.844	5.048	9.160	0.172	0.0249937709916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.18889	T	0.115	0.36630	T	0.23	0.30574	B	0.175	0.35598	B	0.084103	0.20715	U	0.331596	1	0.81001	D	1.53	0.38800	L	-1.03	0.76430	T	-1.81	0.42575	N	0.223	0.25006	-0.9904	0.32500	T	0.142	0.46275	T	10	0.18578598	0.34015	T	0.024994	0.47983	T	0.172	0.43662	0.345	0.33950	0.768449596528	0.76632	.	.	0.213063653711	0.23811	0.510883152485	0.40347	T	0.005896	0.05345	T	-0.0814537	0.39477	T	-0.354779	0.38655	T	0.691809058189392	0.40331	D	0.642236	0.25428	T	0.08893341	0.20763	0.1472266	0.34849	0.08893341	0.20763	0.1472266	0.34848	-5.181	0.38748	T	.	.	0.096	0.17146	B	.;.	.;.	2.766790	0.36307	20.2	0.99632889771362543	0.76142	0.95053	0.63266	D	ALL	0.609417	0.59862	D	-0.14403188675947	0.35489	2.039126	0.00882416738919273	0.40123	2.390	0.999999999999999	0.74766	0.525926	0.21836	0	0.59043	0.45803	0	0.615948	0.41167	0	0.631631	0.49550	0	.	.	5.26	4.1	0.47196	4.497000	0.60088	6.716000	0.56415	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.9126:0.0:0.0874:0.0	9.160	0.36180	789	0.46346	Patatin-like phospholipase domain;Patatin-like phospholipase 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	865.03	33	chr6	36291365	.	A	G	865.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-9.970e-01;DP=1831;ExcessHet=1.7912;FS=51.070;InbreedingCoeff=-0.1666;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=1.05;ReadPosRankSum=0.872;SOR=9.442	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,17:148:99:0|1:36291365_A_G:244,0,5253:36291365	15	0	6	0
chr6	36366649	36366649	G	A	exonic	ETV7	.	nonsynonymous SNV	ETV7:NM_001207041:exon6:c.C569T:p.P190L	.	.	.	.	.	.	.	.	.	.	.	2446217	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.237	U	1.000	N	0.975	L	2.76	T	-1.085	T	0.037	T	0.142	1.512	11.01	1.62	0.009	0.373	5.483	0.051	0.00813346012336	.	.	3.295e-05	0	0	0	0	5.994e-05	0	0	3.23e-05	5	154602	rs145392208	3.557e-05	3.557e-05	2.995e-05	4.125e-05	0.0002	2.762e-05	2.501e-05	3.085e-05	2.753e-05	0	0	0	2.519e-05	0	0.0002	4.047e-05	6.623e-05	1.159e-05	2.63e-05	2.627e-05	2.571e-05	2.691e-05	4.411e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.415e-05	0	0	0	0	0	0	4.411e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.985	0.97372	D	0.237089	0.15793	U	0.565992	0.999999	0.18198	N	1.7	0.43825	L	2.76	0.19166	T	-3.58	0.73477	D	0.127	0.13484	-1.0854	0.06335	T	0.037	0.16029	T	10	0.11153042	0.20889	T	0.008133	0.21547	T	0.051	0.14325	0.274	0.22528	0.467752868181	0.46400	0.4314663262540393	0.43063	0.766525556682	0.64538	0.341808050871	0.16709	T	0.101116	0.40757	T	-0.319539	0.06935	T	-0.566321	0.15788	T	0.696181058883667	0.40537	D	0.79842	0.44325	T	0.14079547	0.32469	0.15561922	0.36470	0.14079547	0.32469	0.15561922	0.36470	-3.547	0.19525	T	.	.	0.115	0.38153	B	.;.;.;.;.;.	.;.;.;.;.;.	1.234955	0.16299	12.45	0.98915422979980849	0.48454	0.05913	0.11866	N	AEFDGBHCI	0.058980	0.11106	N	-0.611103285599197	0.18610	0.9675608	-0.760770445512333	0.15458	0.8130914	0.999943860989684	0.47345	0.656854	0.48797	0	0.719019	0.82233	0	0.67347	0.61138	0	0.567892	0.33627	0	.	.	4.58	1.62	0.22817	0.078000	0.14615	1.053000	0.23654	-0.244000	0.07312	0.004000	0.16614	0.731000	0.26417	0.037000	0.13953	0.187:0.0:0.6572:0.1558	5.483	0.16026	606	0.67383	.;.;.;.;.;.	.	.	.	.	.	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	0.02381	1495.98	35	chr6	36366649	.	G	A	1495.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.893;DP=834;ExcessHet=0.0000;FS=3.513;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=1.39;SOR=0.431	GT:AD:DP:GQ:PL	0/1:62,61:123:99:1510,0,1436	20	0	1	0
chr6	42721955	42721955	T	C	exonic	PRPH2	.	nonsynonymous SNV	PRPH2:NM_000322:exon1:c.A380G:p.E127G,	Choriodal dystrophy, central areolar 2, Autosomal dominant;Leber congenital amaurosis 18, Autosomal recessive, Autosomal dominant;Macular dystrophy, patterned, 1, Autosomal dominant;Macular dystrophy, vitelliform, 3, Autosomal dominant;Retinitis pigmentosa 7 and digenic, Autosomal recessive, Autosomal dominant;Retinitis punctata albescens, Autosomal recessive, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	962026	Cone-rod_dystrophy|Stargardt_disease|not_provided|PRPH2-related_disorder	Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872|MONDO:MONDO:0019353,MedGen:C0271093,Orphanet:827|MedGen:C3661900|MedGen:CN239395	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.23	T	0.121	B	0.217	B	0.000	D	1.000	D	2.605	M	-1.39	T	-0.241	T	0.452	T	0.557	3.775	19.17	6.08	2.330	7.970	16.643	0.451	0.0771473730821	.	0.000399361	0.0005	0	8.64e-05	0.0001	0	1.498e-05	0	0.0032	0.0003752	58	154602	rs543703718	0.0002	0.0002	9.528e-05	0.0003	0.0029	0.0002	0.0002	0.0026	0.0025	0	2.236e-05	0	2.519e-05	0	0.0002	1.799e-05	0.0001	0.0029	9.855e-05	9.845e-05	7.714e-05	0.0001	0.0025	6.006e-05	4.879e-05	0.0014	0.0011	2.409e-05	0	0	0	0	0	0	2.941e-05	0	0.0025	0.008	0.58626	D	0.012	0.63918	D	.	.	.	.	.	.	0.000005	0.62929	D	0.144074	0.999997	0.58761	D	.	.	.	-1.39	0.80387	T	-4.22	0.75854	D	0.207	0.22998	-0.2412	0.76595	T	0.452	0.78597	T	10	0.01619196	0.00341	T	0.077147	0.72702	D	0.451	0.75143	0.521	0.62368	0.910693639176	0.90979	0.7347325705043225	0.73418	0.487374460136	0.47561	0.426002860069	0.28661	T	.	.	.	-0.223103	0.17570	T	-0.0978635	0.63563	T	0.133662187312463	0.15716	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.39999	B	.	.	3.643317	0.51665	23.1	0.99852907423280257	0.93191	0.99530	0.97121	D	AEFDBI	0.928544	0.91292	D	0.348703693679775	0.58671	4.040817	0.478499057057429	0.66567	4.968994	0.999999999997072	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	6.08	6.08	0.98982	6.240000	0.72321	6.112000	0.53677	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:0.0:0.0:1.0	16.643	0.84991	608	0.67185	.	.	.	.	.	.	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	0.02381	7555.98	113	chr6	42721955	.	T	C	7555.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.856e+00;DP=2052;ExcessHet=0.0000;FS=1.744;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.43;ReadPosRankSum=0.087;SOR=0.554	GT:AD:DP:GQ:PL	0/1:314,294:608:99:7570,0,8469	20	0	1	0
chr6	43448894	43448894	A	G	exonic	ABCC10	.	nonsynonymous SNV	ABCC10:NM_033450:exon17:c.A3889G:p.I1297V	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.006	B	0.019	B	0.000	N	0.998	D	0.155	N	-3.12	D	-0.597	T	0.347	T	0.121	2.386	13.94	3.23	0.424	3.217	9.234	0.204	0.024179362967	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1371849965	7.531e-06	7.524e-06	9.538e-06	5.505e-06	5.039e-05	4.04e-06	2.95e-06	8.35e-06	3.12e-06	0	0	0	5.039e-05	0	0	6.298e-06	0	2.324e-05	6.571e-06	6.566e-06	1.285e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.227	0.19430	T	0.693	0.06836	T	0.006	0.13644	B	0.017	0.18783	B	0.000029	0.55875	N	0.119358	0.97079	0.44218	D	0.09	0.08384	N	-3.12	0.92774	D	-0.45	0.14782	N	0.222	0.28965	-0.5967	0.64951	T	0.347	0.71170	T	10	0.21336406	0.37826	T	0.024179	0.47165	T	0.204	0.49076	0.666	0.80401	0.575644953977	0.57233	0.5431675522038572	0.54242	0.144826037557	0.16360	0.293534964323	0.09439	T	0.285016	0.65780	T	-0.140163	0.29866	T	-0.269982	0.47820	T	0.172880426049232	0.18774	T	0.820118	0.47860	T	0.025701	0.01537	0.047218297	0.06755	0.025701	0.01537	0.047218297	0.06754	-3.834	0.21313	T	.	.	0.070	0.05360	B	.;.	.;.	1.656960	0.21132	15.07	0.98405185611833279	0.41116	0.96714	0.70547	D	AEFBI	0.520621	0.54540	D	-0.353641795297453	0.27138	1.486578	-0.165681591600853	0.32808	1.870304	0.895307603979913	0.25951	0.732398	0.92422	0	0.743671	0.97443	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.6	3.23	0.36150	3.209000	0.50824	0.417000	0.18177	0.691000	0.84096	1.000000	0.71638	0.001000	0.17328	0.995000	0.73285	0.8507:0.0:0.1493:0.0	9.234	0.36616	338	0.86082	ABC transporter-like|ABC transporter-like|AAA+ ATPase 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	0.02381	1884.98	33	chr6	43448894	.	A	G	1884.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.32;DP=857;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=0.506;SOR=0.723	GT:AD:DP:GQ:PL	0/1:91,76:167:99:1899,0,2178	20	0	1	0
chr6	51659459	51659459	C	T	exonic	PKHD1	.	nonsynonymous SNV	PKHD1:NM_138694:exon61:c.G10667A:p.R3556H,	Polycystic kidney and hepatic disease, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.003	B	0.001	B	0.783	N	0.996	N	-0.205	N	-2.08	D	-0.952	T	0.146	T	0.147	0.574	7.100	-2.16	-0.331	-0.696	6.291	0.219	0.0188554925692	.	.	1.656e-05	0	0	0.0001	0	1.503e-05	0	0	1.94e-05	3	154602	rs756591563	3.353e-05	3.352e-05	3.404e-05	3.301e-05	3.958e-05	2.567e-05	2.312e-05	2.999e-05	2.671e-05	0	0	0	2.52e-05	0	0	3.958e-05	6.625e-05	0	3.289e-05	3.284e-05	5.143e-05	1.347e-05	7.353e-05	1.262e-05	7.99e-06	2.847e-05	1.859e-05	0	0	0	0	0	0	0	7.353e-05	0	0	0.399	0.10517	T	0.544	0.09621	T	0.003	0.11197	B	0.001	0.04355	B	0.783258	0.09454	N	0.902932	1	0.08975	N	0.41	0.12415	N	-2.08	0.86010	D	-1.08	0.28084	N	0.063	0.03502	-0.9523	0.40573	T	0.146	0.46985	T	10	0.088920265	0.15356	T	0.018855	0.41058	T	0.219	0.51417	.	.	0.679429151099	0.67670	0.41651437050136453	0.41567	0.0726573195972	0.08142	0.201699733734	0.00508	T	0.224853	0.58941	T	-0.269468	0.11815	T	-0.45572	0.27065	T	0.0114157386124134	0.00170	T	0.670833	0.27951	T	0.029418897	0.02434	0.03645938	0.03098	0.029418897	0.02434	0.03645938	0.03098	-3.849	0.21538	T	0.12580469417131396	0.12583	0.068	0.02670	B	.	.	0.191120	0.05771	2.215	0.74965691342008012	0.10894	0.02115	0.06256	N	AEFI	0.049797	0.08640	N	-1.03437812088848	0.07897	0.3684398	-0.984822253865702	0.10126	0.5080172	3.82220323387424E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.93	-2.16	0.06684	-0.671000	0.05351	-7.163000	0.01217	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.996000	0.76049	0.1989:0.4084:0.0:0.3927	6.291	0.20269	640	0.64132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2044.98	34	chr6	51659459	.	C	T	2044.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.065;DP=869;ExcessHet=0.0000;FS=2.703;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=-2.295e+00;SOR=0.540	GT:AD:DP:GQ:PL	0/1:87,81:168:99:2059,0,2189	20	0	1	0
chr6	53013697	53013708	GCAACGGGCTTG	-	exonic	CILK1	.	nonframeshift deletion	CILK1:NM_001375397:exon9:c.1106_1117del:p.P369_L372del	.	.	0	1513	9	0	0	9	0.0029654	.	.	586698	not_specified|not_provided|CILK1-related_disorder|Endocrine-cerebro-osteodysplasia_syndrome|Epilepsy,_juvenile_myoclonic,_susceptibility_to,_10	MedGen:CN169374|MedGen:C3661900|.|MONDO:MONDO:0012980,MedGen:C2675227,OMIM:612651,Orphanet:199332|MONDO:MONDO:0060671,MedGen:C4693613,OMIM:617924	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0057	0.00339457	0.0074	0.0025	0.0030	0	0.0077	0.0104	0.0055	0.0051	0.0011526	30	26028	rs201964851	0.0095	0.0097	0.0098	0.0092	0.0109	0.0093	0.0093	0.0107	0.0107	0.0009	0.0033	0.0044	0	0.0091	0.0017	0.0109	0.0086	0.0049	0.0061	0.0061	0.0063	0.0059	0.0096	0.0058	0.0057	0.0090	0.0088	0.0020	0	0.0050	0.0026	0	0.0068	0	0.0096	0.0085	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3213.94	34	chr6	53013696	.	AGCAACGGGCTTG	A	3213.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.100e-02;DP=860;ExcessHet=0.0000;FS=4.639;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.60;ReadPosRankSum=-1.240e+00;SOR=1.082	GT:AD:DP:GQ:PL	0/1:81,83:164:99:3228,0,3150	20	0	1	0
chr6	56640044	56640044	C	T	exonic	DST	.	nonsynonymous SNV	DST:NM_001723:exon5:c.G893A:p.R298H	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	.	3	1516	2	1	0	4	0.00131752	.	.	308399	Hereditary_sensory_and_autonomic_neuropathy_type_6|Inborn_genetic_diseases|Epidermolysis_bullosa_simplex_3,_localized_or_generalized_intermediate,_with_BP230_deficiency|not_provided	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653,Orphanet:314381|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425,Orphanet:412181|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	0.757	P	0.224	B	0.005	N	0.621	D	1.32	L	-3.31	D	-0.432	T	0.465	T	0.202	1.752	11.82	-1.43	-0.528	0.381	10.580	0.191	0.0501421497022	0.0006	.	0.0008	0.0003	0	0	0.0005	0.0013	0	0.0002	0.0008344	129	154602	rs41267671	0.0013	0.0013	0.0013	0.0012	0.0016	0.0012	0.0012	0.0015	0.0015	5.974e-05	6.709e-05	0	2.52e-05	0.0002	0.0009	0.0016	0.0008	0.0002	0.0006	0.0006	0.0007	0.0006	0.0012	0.0005	0.0005	0.0010	0.0009	0.0003	0	0.0001	0	0	0	0	0.0012	0	0	0.089	0.32141	T	0.003	0.76473	D	0.666	0.41077	P	0.224	0.37970	B	0.005169	0.33034	N	0.138874	.	.	.	1.355	0.33814	L	-3.31	0.93835	D	-3.11	0.74900	D	0.147	0.20129	-0.4319	0.71004	T	0.465	0.79328	T	9	0.032138377	0.01360	T	0.050142	0.64117	D	0.191	0.46948	.	.	0.604599270341	0.60143	0.33726535844226246	0.33639	0.149928696148	0.16913	0.21181973815	0.00891	T	0.113874	0.46534	T	-0.300326	0.08628	T	-0.228802	0.51888	T	0.0408514391481621	0.03845	T	0.808619	0.47377	T	.	.	.	.	.	.	.	.	-10.348	0.81821	D	.	.	0.075	0.05317	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.597036	0.20419	14.74	0.95203069184268374	0.26401	0.21411	0.21392	N	AEFBHCI	0.173979	0.30109	N	-0.847916856057139	0.12101	0.5878404	-0.857821913754664	0.13099	0.6776952	0.999989794175856	0.51787	0.706548	0.73137	0	0.633656	0.55848	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.45	-1.43	0.08418	0.468000	0.21763	-2.572000	0.03594	-0.800000	0.03169	0.043000	0.21118	0.000000	0.08366	0.713000	0.34548	0.0:0.5525:0.0:0.4475	10.580	0.44438	314	0.87270	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	963.98	36	chr6	56640044	.	C	T	963.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.685;DP=804;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.15;ReadPosRankSum=1.38;SOR=0.755	GT:AD:DP:GQ:PL	0/1:55,40:95:99:978,0,1352	20	0	1	0
chr6	63580034	63580034	-	T	exonic	PTP4A1	.	frameshift insertion	PTP4A1:NM_001385266:exon6:c.425dupT:p.S147Ffs*55,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	1298.17	46	chr6	63580033	.	AT	A,ATT	1298.17	.	AC=12,2;AF=0.300,0.050;AN=40;BaseQRankSum=0.307;DP=1171;ExcessHet=14.4320;FS=0.603;InbreedingCoeff=-0.5084;MLEAC=11,1;MLEAF=0.275,0.025;MQ=60.00;MQRankSum=0.00;QD=1.92;ReadPosRankSum=-1.130e-01;SOR=0.762	GT:AD:DP:GQ:PL	0/1:40,7,4:53:46:46,0,883,102,777,1022	6	0	12	1
chr6	64626147	64626147	T	C	exonic	EYS	.	nonsynonymous SNV	EYS:NM_001142800:exon23:c.A3542G:p.N1181S	Retinitis pigmentosa 25	.	.	.	.	.	.	.	.	.	.	978311	Autosomal_recessive_retinitis_pigmentosa|Retinitis_pigmentosa_25	MedGen:C0339526|MONDO:MONDO:0011272,MedGen:C1864446,OMIM:602772,Orphanet:791	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.21	T	0.058	B	0.031	B	.	.	1.000	N	1.9	L	-3.13	D	-0.666	T	0.414	T	0.068	1.251	10.08	-0.897	0.073	0.381	1.224	0.209	0.153187060853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.174e-06	7.525e-06	5.66e-06	8.731e-06	0.0002	3.63e-06	2.65e-06	2e-06	1.32e-06	0	0	0	0	0	0.0002	5.571e-06	5.192e-05	0	6.571e-06	6.566e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.416e-05	0	0	0	0	0.033	0.44358	D	0.008	0.67890	D	0.047	0.22967	B	0.018	0.21939	B	.	.	.	.	1	0.08975	N	1.095	0.27400	L	-3.13	0.92829	D	-3.52	0.68412	D	0.325	0.38746	-0.6659	0.62013	T	0.414	0.76170	T	9	0.15728211	0.29603	T	0.153187	0.83449	D	0.209	0.49871	0.577	0.70217	0.270001397563	0.26616	0.3087994872107439	0.30792	0.018726641329	0.01823	0.317406415939	0.13028	T	0.26644	0.63839	T	-0.0899386	0.38086	T	-0.366967	0.37243	T	0.0790714919567108	0.09867	T	0.749125	0.37025	T	0.14147007	0.32596	0.15773664	0.36868	0.14147007	0.32596	0.15773664	0.36867	-6.272	0.48595	T	0.6260229408776581	0.69488	0.124	0.27672	B	.;.	.;.	1.317646	0.17215	13.03	0.98426784040130755	0.41354	0.02414	0.06827	N	AEFI	0.029901	0.02908	N	-0.817587143986233	0.12861	0.6296849	-0.897412353801333	0.12155	0.623613	1.20935573640673E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.39	-0.897	0.10018	0.314000	0.19182	-0.105000	0.11895	0.663000	0.56723	0.268000	0.25027	0.000000	0.08366	0.570000	0.30651	0.1558:0.1578:0.1599:0.5265	1.224	0.01813	711	0.56613	.;EGF-like, conserved site|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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	468.98	35	chr6	64626147	.	T	C	468.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.436;DP=728;ExcessHet=0.0000;FS=4.309;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.20;ReadPosRankSum=0.670;SOR=0.460	GT:AD:DP:GQ:PL	0/1:27,19:46:99:483,0,738	20	0	1	0
chr6	80007990	80007990	G	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.G321C:p.E107D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.000	D	0.939	D	1.955	M	-2.54	D	0.480	D	0.698	D	0.589	3.817	19.38	2.91	0.879	1.891	11.092	0.607	0.126467273608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.893e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.035	0.92824	D	0.999	0.77913	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.938546	0.37229	D	2.62	0.76659	M	-2.54	0.89496	D	-1.53	0.56787	N	0.406	0.46649	0.480	0.90261	D	0.698	0.89595	D	10	0.39968592	0.55478	T	0.126467	0.80813	D	0.607	0.84559	0.377	0.39156	0.756102065754	0.75388	0.29326060996924297	0.29239	0.586303879314	0.54233	0.593461692333	0.51983	T	0.093775	0.51827	T	0.153432	0.69590	D	-0.0173821	0.69202	D	0.93341064453125	0.60015	D	0.887811	0.64303	D	0.7694828	0.82017	0.34171048	0.59907	0.7694828	0.82018	0.34171048	0.59906	-9.025	0.67858	D	.	.	0.446	0.62023	A	.;.;.;.;.;.	.;.;.;.;.;.	4.273798	0.65043	24.8	0.99838627551170323	0.91972	0.91788	0.54264	D	AEFBI	0.340775	0.43748	N	0.324956302953043	0.57431	3.910505	0.282171109977361	0.54497	3.614648	0.999919670358034	0.45857	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	2.91	0.32903	2.081000	0.41220	5.042000	0.46920	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2117:0.0:0.7883:0.0	11.092	0.47344	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4643	8626.22	29	chr6	80007990	.	G	C,A	8626.22	.	AC=9,4;AF=0.321,0.143;AN=28;BaseQRankSum=-1.515e+00;DP=1035;ExcessHet=11.8493;FS=213.695;InbreedingCoeff=-0.6471;MLEAC=11,5;MLEAF=0.393,0.179;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=0.474;SOR=11.340	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,13,7:58:99:.:.:1120,0,1340,165,1290,1580	1	0	9	7
chr6	80007992	80007997	GTTTTG	-	exonic	TTK	.	nonframeshift deletion	TTK:NM_001166691:exon3:c.323_328del:p.S108_A110delinsT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	8059.53	71	chr6	80007991	.	AGTTTTG	A,AG,ATG	8059.53	.	AC=5,5,3;AF=0.119,0.119,0.071;AN=42;BaseQRankSum=-1.812e+00;DP=1299;ExcessHet=11.8493;FS=210.889;InbreedingCoeff=-0.4483;MLEAC=5,5,3;MLEAF=0.119,0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=0.164;SOR=11.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:38,6,7,6:57:99:.:.:955,154,1625,0,1325,1415,154,1258,1274,1505	8	0	5	0
chr6	80007993	80007997	TTTTG	-	exonic	TTK	.	stopgain	TTK:NM_001166691:exon3:c.324_328del:p.F109*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	8059.53	71	chr6	80007991	.	AGTTTTG	A,AG,ATG	8059.53	.	AC=5,5,3;AF=0.119,0.119,0.071;AN=42;BaseQRankSum=-1.812e+00;DP=1299;ExcessHet=11.8493;FS=210.889;InbreedingCoeff=-0.4483;MLEAC=5,5,3;MLEAF=0.119,0.119,0.071;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=0.164;SOR=11.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:38,6,7,6:57:99:.:.:955,154,1625,0,1325,1415,154,1258,1274,1505	8	0	5	0
chr6	80007992	80007992	G	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	140.96	42	chr6	80007992	.	G	*,C	140.96	.	AC=13,2;AF=0.382,0.059;AN=34;BaseQRankSum=1.16;DP=1027;ExcessHet=26.1958;FS=251.456;InbreedingCoeff=-0.6204;MLEAC=15,2;MLEAF=0.441,0.059;MQ=60.00;MQRankSum=0.00;QD=0.19;ReadPosRankSum=0.578;SOR=11.628	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,7,0:57:99:.:.:955,0,1415,726,1495,2183	2	0	13	4
chr6	80007993	80007993	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	144.91	42	chr6	80007993	.	T	*,C	144.91	.	AC=10,2;AF=0.385,0.077;AN=26;BaseQRankSum=0.236;DP=945;ExcessHet=22.5857;FS=237.638;InbreedingCoeff=-0.4416;MLEAC=14,3;MLEAF=0.538,0.115;MQ=60.00;MQRankSum=0.00;QD=0.25;ReadPosRankSum=0.301;SOR=10.970	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,7,0:57:99:.:.:955,0,1415,726,1495,2183	1	0	10	8
chr6	80007995	80007995	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	929.62	41	chr6	80007995	.	T	*,TCCCC,C	929.62	.	AC=7,3,2;AF=0.269,0.115,0.077;AN=26;BaseQRankSum=0.258;DP=915;ExcessHet=22.5857;FS=220.196;InbreedingCoeff=-0.4652;MLEAC=10,4,3;MLEAF=0.385,0.154,0.115;MQ=60.00;MQRankSum=0.00;QD=1.58;ReadPosRankSum=0.586;SOR=10.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:35,17,6,0:58:99:.:.:1035,0,1343,291,1221,1570,935,1403,1656,2279	1	0	7	8
chr6	80007995	80007995	-	CCCC	exonic	TTK	.	frameshift insertion	TTK:NM_001166691:exon3:c.326_327insCCCC:p.A110Pfs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	929.62	41	chr6	80007995	.	T	*,TCCCC,C	929.62	.	AC=7,3,2;AF=0.269,0.115,0.077;AN=26;BaseQRankSum=0.258;DP=915;ExcessHet=22.5857;FS=220.196;InbreedingCoeff=-0.4652;MLEAC=10,4,3;MLEAF=0.385,0.154,0.115;MQ=60.00;MQRankSum=0.00;QD=1.58;ReadPosRankSum=0.586;SOR=10.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:35,17,6,0:58:99:.:.:1035,0,1343,291,1221,1570,935,1403,1656,2279	1	0	7	8
chr6	80007995	80007995	T	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.T326C:p.F109S	.	.	.	.	.	.	.	.	.	.	.	3487353	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.996	D	0.818	P	0.000	D	0.844	D	1.61	L	1.42	T	0.418	D	0.623	D	0.661	4.331	22.8	5.66	2.285	5.664	9.438	0.543	0.192901871488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0028	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0003	0.0003	0	4.221e-05	2.681e-05	0	0.0004	0.0003	6.299e-05	5.109e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.996	0.68779	D	0.818	0.58969	P	0.000000	0.84330	D	0.049019	0.843728	0.35108	D	2.43	0.70455	M	-2.42	0.88611	D	-3.24	0.89093	D	0.479	0.51851	0.418	0.89363	D	0.623	0.86718	D	10	0.7754053	0.77418	D	0.192902	0.86272	D	0.543	0.80960	0.667	0.80502	0.865703120749	0.86440	0.5142532410060754	0.51348	0.734343058358	0.62892	0.673589468002	0.63349	T	0.307771	0.67989	T	0.230199	0.76739	D	0.0928881	0.76438	D	0.992899179458618	0.83501	D	0.849815	0.59928	T	0.9145535	0.92723	0.74627006	0.85002	0.9145535	0.92724	0.74627006	0.85003	-11.553	0.82796	D	.	.	0.975	0.91596	P	.;.;.;.;.;.	.;.;.;.;.;.	5.252684	0.88193	29.5	0.99857276268218276	0.93639	0.93449	0.58247	D	AEFBI	0.664675	0.63376	D	0.634234699625658	0.75350	6.29074	0.657051414914333	0.79135	7.019207	0.999999781221271	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	5.66	0.87293	5.426000	0.66214	5.025000	0.46778	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.247:0.0:0.0:0.753	9.438	0.37819	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4615	929.62	41	chr6	80007995	.	T	*,TCCCC,C	929.62	.	AC=7,3,2;AF=0.269,0.115,0.077;AN=26;BaseQRankSum=0.258;DP=915;ExcessHet=22.5857;FS=220.196;InbreedingCoeff=-0.4652;MLEAC=10,4,3;MLEAF=0.385,0.154,0.115;MQ=60.00;MQRankSum=0.00;QD=1.58;ReadPosRankSum=0.586;SOR=10.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:35,17,6,0:58:99:.:.:1035,0,1343,291,1221,1570,935,1403,1656,2279	1	0	7	8
chr6	80007996	80007996	-	CCCCC	exonic	TTK	.	frameshift insertion	TTK:NM_001166691:exon3:c.327_328insCCCCC:p.A110Pfs*7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	1782.58	51	chr6	80007996	.	T	TCCCCC,*	1782.58	.	AC=4,3;AF=0.182,0.136;AN=22;BaseQRankSum=0.023;DP=924;ExcessHet=3.6146;FS=435.630;InbreedingCoeff=-0.2557;MLEAC=6,5;MLEAF=0.273,0.227;MQ=60.00;MQRankSum=0.00;QD=4.82;ReadPosRankSum=0.313;SOR=10.008	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:41,5,6:52:31:.:.:151,31,1547,0,1450,1735	4	0	4	10
chr6	80007996	80007996	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	1782.58	51	chr6	80007996	.	T	TCCCCC,*	1782.58	.	AC=4,3;AF=0.182,0.136;AN=22;BaseQRankSum=0.023;DP=924;ExcessHet=3.6146;FS=435.630;InbreedingCoeff=-0.2557;MLEAC=6,5;MLEAF=0.273,0.227;MQ=60.00;MQRankSum=0.00;QD=4.82;ReadPosRankSum=0.313;SOR=10.008	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:41,5,6:52:31:.:.:151,31,1547,0,1450,1735	4	0	4	10
chr6	81752025	81752025	-	CCGCCGAAGTCGCCG	exonic	TENT5A	.	nonframeshift insertion	TENT5A:NM_017633:exon2:c.116_117insCGGCGACTTCGGCGG:p.G45_G46insDFGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	25831.7	45	chr6	81752010	.	ACCGCCGAAGTCGCCG	ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCG,A,ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	25831.7	.	AC=22,7,4;AF=0.524,0.167,0.095;AN=42;BaseQRankSum=0.050;DP=1691;ExcessHet=0.0020;FS=1.111;InbreedingCoeff=0.5758;MLEAC=22,7,4;MLEAF=0.524,0.167,0.095;MQ=59.99;MQRankSum=0.00;QD=28.92;ReadPosRankSum=-7.030e-01;SOR=0.456	GT:AD:DP:GQ:PL	1/1:0,40,0,0:40:99:1664,114,0,1670,120,1676,1670,120,1676,1676	3	8	1	0
chr6	81752025	81752025	-	CCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	exonic	TENT5A	.	nonframeshift insertion	TENT5A:NM_017633:exon2:c.116_117insCGGCGACTTCGGCGGCGGCGACTTCGGCGG:p.G45_G46insDFGGGDFGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	25831.7	45	chr6	81752010	.	ACCGCCGAAGTCGCCG	ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCG,A,ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	25831.7	.	AC=22,7,4;AF=0.524,0.167,0.095;AN=42;BaseQRankSum=0.050;DP=1691;ExcessHet=0.0020;FS=1.111;InbreedingCoeff=0.5758;MLEAC=22,7,4;MLEAF=0.524,0.167,0.095;MQ=59.99;MQRankSum=0.00;QD=28.92;ReadPosRankSum=-7.030e-01;SOR=0.456	GT:AD:DP:GQ:PL	1/1:0,40,0,0:40:99:1664,114,0,1670,120,1676,1670,120,1676,1676	3	8	1	0
chr6	83936364	83936364	C	T	exonic	CYB5R4	.	nonsynonymous SNV	CYB5R4:NM_016230:exon12:c.C1096T:p.R366C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.01	B	0.022	B	0.373	N	1.000	D	0.505	N	-3.31	D	-0.271	T	0.447	T	0.134	1.614	11.35	3.88	2.349	1.755	5.390	0.316	0.0603065805473	.	.	1.667e-05	0	0	0	0	1.516e-05	0	6.114e-05	1.29e-05	2	154602	rs146405277	1.165e-05	1.368e-05	9.551e-06	1.378e-05	0.0002	7.1e-06	5.8e-06	5.31e-06	3.88e-06	3.011e-05	0	0	0	0	0.0002	9.901e-06	3.32e-05	2.329e-05	6.576e-06	6.568e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.072	0.34982	T	0.068	0.44106	T	0.01	0.15535	B	0.022	0.19653	B	0.373067	0.13498	N	0.725772	0.994584	0.42337	D	0	0.06538	N	-3.31	0.93835	D	-1.4	0.34596	N	0.248	0.28028	-0.2705	0.75798	T	0.447	0.78270	T	10	0.29228836	0.46806	T	0.060307	0.67956	D	0.316	0.63799	0.518	0.61915	0.963620442367	0.96322	0.464497102615662	0.46368	0.193709413675	0.21702	0.200634777546	0.00475	T	0.325747	0.69643	T	-0.129544	0.31570	T	-0.241711	0.50632	T	0.277696043252945	0.24074	T	0.756024	0.37907	T	0.104960606	0.24816	0.094212994	0.22289	0.104960606	0.24816	0.094212994	0.22288	-7.581	0.58178	D	.	.	0.066	0.02200	B	.	.	3.729353	0.53338	23.4	0.98014547218812798	0.37582	0.65751	0.32843	D	AEFBI	0.117940	0.23083	N	-0.208455853073324	0.32787	1.852949	-0.0271120035224936	0.38494	2.268756	0.011050350477546	0.12122	0.732398	0.92422	0	0.743671	0.97443	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	4.77	3.88	0.43959	1.600000	0.36372	3.278000	0.37209	0.549000	0.26987	0.993000	0.37899	0.998000	0.33993	0.988000	0.63387	0.1452:0.6299:0.1414:0.0835	5.390	0.15538	481	0.77356	Flavoprotein pyridine nucleotide cytochrome reductase-like, FAD-binding domain|FAD-binding domain, ferredoxin reductase-type	.	.	.	.	.	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	0.02381	1070.98	33	chr6	83936364	.	C	T	1070.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.842;DP=786;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.27;ReadPosRankSum=1.19;SOR=0.762	GT:AD:DP:GQ:PL	0/1:49,46:95:99:1085,0,1095	20	0	1	0
chr6	87418395	87418395	G	C	exonic	CFAP206	.	nonsynonymous SNV	CFAP206:NM_001031743:exon7:c.G819C:p.E273D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.992	D	0.000	D	1.000	D	2.485	M	1.28	T	-0.765	T	0.202	T	0.806	4.101	21.1	5.16	2.575	1.652	18.607	0.271	0.0232303268897	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259025975	3.42e-06	3.42e-06	2.723e-06	4.125e-06	4.497e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	0	0	6.577e-06	6.569e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.055	0.38407	T	0.029	0.54541	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	0.99999	0.58761	D	.	.	.	1.28	0.35960	T	-2.43	0.53258	N	0.801	0.79696	-0.7652	0.57121	T	0.202	0.55877	T	10	0.8294134	0.82109	D	0.02323	0.46179	T	0.271	0.58633	0.614	0.74768	0.374076547971	0.37021	0.61957415389456	0.61890	0.386528501848	0.39939	.	.	.	0.483695	0.81132	T	0.0800007	0.62041	D	-0.122861	0.61566	T	0.980629205703735	0.73460	D	0.89491	0.63503	D	0.4585539	0.64581	0.36284363	0.61682	0.4585539	0.64582	0.36284363	0.61681	-5.167	0.38604	T	.	.	0.666	0.71558	P	.	.	3.660013	0.51986	23.2	0.99835784832420393	0.91714	0.94436	0.61160	D	AEFI	0.301989	0.41036	N	0.629584958714022	0.75052	6.238592	0.576534094258383	0.73261	5.941686	0.750394066702025	0.23351	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.16	5.16	0.70563	1.394000	0.34118	4.448000	0.43411	0.618000	0.50648	0.990000	0.36992	1.000000	0.68203	0.973000	0.55318	0.0:0.0:1.0:0.0	18.607	0.91225	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	253.98	48	chr6	87418395	.	G	C	253.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.725e+00;DP=1004;ExcessHet=0.0000;FS=63.131;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=3.63;ReadPosRankSum=0.948;SOR=5.890	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,18:70:99:0|1:87418395_G_C:268,0,1382:87418395	20	0	1	0
chr6	87418396	87418396	G	C	exonic	CFAP206	.	nonsynonymous SNV	CFAP206:NM_001031743:exon7:c.G820C:p.V274L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.097	B	0.11	B	0.099	N	1.000	N	1.04	L	1.55	T	-0.985	T	0.016	T	0.051	1.919	12.37	-6.98	-1.253	0.061	8.727	0.026	0.0107427859896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.513e-05	0.0003	1.917e-05	1.106e-05	1.991e-05	9.91e-06	8.46e-06	1.304e-05	1.113e-05	0	0	0	0	0	0	1.991e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.343	0.17857	T	0.02	0.18235	B	0.032	0.22131	B	0.098836	0.19962	N	0.536219	0.999595	0.20909	N	.	.	.	1.55	0.29866	T	-0.84	0.22944	N	0.136	0.13341	-0.9845	0.33951	T	0.016	0.06711	T	10	0.103265375	0.18974	T	0.010743	0.27620	T	0.026	0.05648	0.395	0.42099	0.0954503805726	0.09146	0.19020201639342502	0.18938	0.19954006279	0.22355	.	.	.	0.119676	0.44138	T	-0.336867	0.05608	T	-0.721662	0.04715	T	0.0796661600470543	0.09943	T	0.69863	0.30863	T	0.034879714	0.04001	0.093172565	0.21994	0.034879714	0.04001	0.093172565	0.21993	-3.521	0.16727	T	.	.	0.158	0.34949	B	.	.	0.840487	0.12120	8.673	0.80669705967739813	0.13312	0.64434	0.32406	D	AEFI	0.131428	0.25036	N	-0.974096222241832	0.09159	0.4323572	-0.954286185025139	0.10824	0.5476554	0.0029963270333614	0.09855	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.16	-6.98	0.01454	0.167000	0.16419	0.396000	0.17945	-0.241000	0.07509	0.882000	0.31029	0.767000	0.26670	0.976000	0.56436	0.1402:0.1105:0.6398:0.1095	8.727	0.33637	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3421	1158.48	77	chr6	87418396	.	G	C	1158.48	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-1.018e+00;DP=1449;ExcessHet=12.7758;FS=261.195;InbreedingCoeff=-0.5695;MLEAC=15;MLEAF=0.395;MQ=60.00;MQRankSum=0.00;QD=1.28;ReadPosRankSum=1.16;SOR=11.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,18:70:99:0|1:87418395_G_C:268,0,1382:87418395	6	0	13	2
chr6	106555849	106555849	G	A	exonic	CRYBG1	.	nonsynonymous SNV	CRYBG1:NM_001624:exon15:c.G4443A:p.M1481I	.	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.987	D	0.953	D	0.000	D	1.000	D	2.525	M	-0.97	T	-0.053	T	0.540	D	0.922	4.862	27.8	5.35	2.665	6.171	19.428	0.736	0.0941362744861	7.7e-05	0.000199681	0.0003	9.61e-05	0.0002	0	0	1.498e-05	0	0.0018	0.0002264	35	154602	rs374909027	0.0001	0.0001	6.67e-05	0.0002	0.0017	0.0001	0.0001	0.0014	0.0014	2.987e-05	8.944e-05	0	0	0	0.0003	1.889e-05	0.0002	0.0017	8.535e-05	8.53e-05	3.854e-05	0.0001	0.0021	4.953e-05	3.96e-05	0.0011	0.0009	2.405e-05	0	0	0	0	0	0	1.47e-05	0.0005	0.0021	0.004	0.65419	D	0.0	0.92824	D	0.987	0.61912	D	0.953	0.69275	D	0.000000	0.84330	D	0.034664	1	0.81001	D	.	.	.	-0.97	0.75670	T	-3.62	0.69593	D	0.756	0.84713	-0.0534	0.81134	T	0.540	0.83056	D	10	0.087102264	0.14870	T	0.094136	0.76198	D	0.736	0.90808	0.824	0.93592	0.898140056634	0.89712	0.5861213917238782	0.58542	0.478301125626	0.46915	0.546212255955	0.45322	T	0.407476	0.76308	T	0.0474211	0.58011	T	0.288077	0.87551	D	0.155494347006623	0.17532	T	0.860614	0.55382	D	0.78316563	0.82848	0.74334973	0.84829	0.78316563	0.82850	0.74334973	0.84830	-9.583	0.71375	D	.	.	0.618	0.70515	P	.;.;.	.;.;.	4.089163	0.60890	24.3	0.99707613183118571	0.81074	0.94540	0.61497	D	AEFBCIJ	0.665104	0.63404	D	0.779407125538222	0.84802	8.390551	0.754863333210179	0.86519	8.915599	0.999999999701195	0.74766	0.732398	0.92422	0	0.697927	0.68747	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.35	5.35	0.76297	6.278000	0.72640	11.836000	0.97677	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.428	0.94741	719	0.55657	Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin;Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin;Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2617.98	33	chr6	106555849	.	G	A	2617.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.250;DP=917;ExcessHet=0.0000;FS=2.383;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.47;ReadPosRankSum=1.64;SOR=0.541	GT:AD:DP:GQ:PL	0/1:103,107:210:99:2632,0,2498	20	0	1	0
chr6	109727167	109727167	G	T	exonic	FIG4	.	nonsynonymous SNV	FIG4:NM_014845:exon4:c.G348T:p.M116I,	Amyotrophic lateral sclerosis 11, Autosomal dominant;Charcot-Marie-Tooth disease, type 4J, Autosomal recessive;Yunis-Varon syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1788958	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.35	T	0.009	B	0.013	B	0.000	D	1.000	D	-1.04	N	0.5	T	-1.078	T	0.032	T	0.678	2.105	12.99	4.97	2.282	7.604	18.238	0.213	0.0116303400402	.	.	1.648e-05	0	8.672e-05	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs754936627	3.428e-06	3.42e-06	1.365e-06	5.51e-06	2.237e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	0	2.237e-05	0	0	0	0	3.607e-06	0	0	6.572e-06	6.567e-06	0	1.345e-05	6.55e-05	0	0	.	.	0	0	6.55e-05	0	0	0	0	0	0	0	0.509	0.21467	T	0.349	0.23570	T	0.009	0.15093	B	0.013	0.16460	B	0.000435	0.44522	D	0.255298	0.999989	0.81001	D	0.4	0.12274	N	0.5	0.55608	T	1.31	0.01529	N	0.828	0.82358	-1.0780	0.07741	T	0.032	0.13854	T	10	0.39429653	0.55115	T	0.01163	0.29446	T	0.213	0.50496	0.577	0.70217	0.330331372229	0.32644	0.27812607784165366	0.27725	0.347199639714	0.36609	0.82931125164	0.86457	D	0.215361	0.57721	T	0.00513438	0.52361	T	-0.147536	0.59462	T	0.658075571060181	0.38811	D	0.952605	0.81930	D	0.19109157	0.40722	0.16677801	0.38511	0.19109157	0.40722	0.16677801	0.38510	-1.318	0.01430	T	.	.	0.284	0.51703	B	.;.;.	.;.;.	2.951284	0.39270	20.9	0.97231996636498319	0.32956	0.98232	0.80766	D	AEFI	0.881388	0.80872	D	-0.199736917174058	0.33145	1.877181	0.0704549313319262	0.43072	2.616518	0.999747588251668	0.42466	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.97	4.97	0.65419	7.726000	0.83783	11.456000	0.92812	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.238	0.89894	271	0.89373	SAC domain;SAC domain;SAC 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	0.02381	1735.98	34	chr6	109727167	.	G	T	1735.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=846;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.92;ReadPosRankSum=-1.114e+00;SOR=0.677	GT:AD:DP:GQ:PL	0/1:85,74:159:99:1750,0,1925	20	0	1	0
chr6	150733895	150733895	C	T	exonic	PLEKHG1	.	nonsynonymous SNV	PLEKHG1:NM_001329798:exon2:c.C391T:p.P131S	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	B	0.154	B	0.052	N	1.000	N	2.08	M	0.34	T	-1.044	T	0.071	T	0.102	2.410	14.02	4.42	1.370	0.208	6.162	0.068	.	0.0046	0.0249601	0.0112	0.0006	0.0011	0.0921	0.0165	0.0056	0.0155	0.0023	0.0108731	1681	154602	rs80178830	0.0089	0.0089	0.0093	0.0086	0.0940	0.0088	0.0088	0.0915	0.0905	0.0005	0.0010	0.0002	0.0940	0.0164	0.0007	0.0068	0.0104	0.0029	0.0084	0.0085	0.0077	0.0092	0.1043	0.0080	0.0079	0.0970	0.0941	0.0011	0	0.0013	0.0003	0.1043	0.0169	0.0034	0.0067	0.0057	0.0052	0.018	0.50676	D	0.468	0.12316	T	0.376	0.34240	B	0.154	0.34351	B	0.051672	0.22962	N	0.491680	1	0.08975	N	1.78	0.46185	L	0.34	0.58176	T	-0.89	0.24026	N	0.091	0.06990	-1.0445	0.15971	T	0.071	0.28773	T	9	0.0024420917	0.00036	T	.	.	.	0.068	0.19811	.	.	.	.	0.31040918342916	0.30953	.	.	0.285249382257	0.08235	T	0.003617	0.03020	T	-0.595291	0.00156	T	-0.541017	0.18196	T	0.00846125271357469	0.00103	T	0.542646	0.18460	T	0.04563063	0.07501	0.054539483	0.09401	0.04563063	0.07501	0.054539483	0.09400	-2.934	0.09487	T	.	.	0.076	0.07602	B	.;.;.	.;.;.	0.483114	0.08524	5.288	0.98656428450329336	0.44261	0.12065	0.17037	N	AEFBI	0.087954	0.17832	N	-0.467581401535315	0.23148	1.241057	-0.535489149819575	0.21192	1.145272	0.0803190491628787	0.15842	0.562547	0.31514	0	0.519925	0.08708	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.29	4.42	0.52775	0.218000	0.17407	0.391000	0.17890	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.121000	0.19209	0.1313:0.6533:0.1415:0.0739	6.162	0.19582	951	0.11083	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2234.98	34	chr6	150733895	.	C	T	2234.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.471;DP=836;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.15;ReadPosRankSum=0.286;SOR=0.699	GT:AD:DP:GQ:PL	0/1:73,85:158:99:2249,0,1867	20	0	1	0
chr6	158503978	158503978	G	A	exonic	TULP4	.	nonsynonymous SNV	TULP4:NM_020245:exon13:c.G4315A:p.A1439T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.452	B	0.074	B	0.000	D	1.000	D	0.46	N	-0.09	T	-1.043	T	0.067	T	0.285	1.109	9.522	4.65	1.473	6.152	14.688	0.173	0.0135802216796	7.7e-05	.	2.753e-05	0	9.705e-05	0	0	1.669e-05	0	6.391e-05	1.94e-05	3	154602	rs371614011	3.835e-05	3.899e-05	4.087e-05	3.579e-05	0.0009	3.028e-05	2.722e-05	0.0003	0.0002	0.0001	2.242e-05	3.833e-05	2.52e-05	0	0.0009	3.059e-05	8.287e-05	4.642e-05	7.221e-05	7.217e-05	8.992e-05	5.371e-05	0.0004	3.968e-05	3.125e-05	7.299e-05	3.045e-05	0.0001	0	0	0	0	0	0	5.88e-05	0	0.0004	0.056	0.38185	T	0.233	0.24913	T	0.452	0.36118	B	0.074	0.28220	B	0.000007	0.62929	D	0.108398	0.997476	0.81001	D	1.245	0.31408	L	-0.09	0.64086	T	-1.67	0.39887	N	0.298	0.33687	-1.0434	0.16294	T	0.067	0.27640	T	10	0.19827494	0.35791	T	0.01358	0.33091	T	0.173	0.43840	.	.	0.264728329957	0.26087	0.37881992315046675	0.37796	0.231309124043	0.25673	0.519865512848	0.41607	T	0.339437	0.70858	T	-0.236987	0.15735	T	-0.341524	0.40171	T	0.163855135440826	0.18152	T	0.839116	0.51273	T	0.065718815	0.14072	0.07790336	0.17400	0.065718815	0.14072	0.07790336	0.17400	-4.084	0.25054	T	.	.	0.077	0.06617	B	.	.	2.423597	0.31168	18.66	0.96884446144619651	0.31473	0.96591	0.69909	D	AEFDBI	0.511610	0.54017	D	-0.439139089039357	0.24110	1.299516	-0.364068442145708	0.26078	1.438097	0.998546932258256	0.37167	0.646311	0.45356	0	0.601575	0.49859	0	0.645312	0.48771	0	0.528226	0.09195	0	.	.	5.52	4.65	0.57626	6.234000	0.72276	6.650000	0.56213	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.001000	0.02609	0.07:0.0:0.93:0.0	14.688	0.68670	693	0.58582	.	.	.	.	.	.	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	0.02381	1447.98	69	chr6	158503978	.	G	A	1447.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.364;DP=1167;ExcessHet=0.0000;FS=3.794;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.78;ReadPosRankSum=1.06;SOR=0.893	GT:AD:DP:GQ:PL	0/1:45,53:98:99:1462,0,1162	20	0	1	0
chr6	167976259	167976342	CAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	-	exonic	HGC6.3	.	nonframeshift deletion	HGC6.3:NM_001129895:exon1:c.311_394del:p.V104_T131del,	.	.	452	926	15	0	129	144	0.00803428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	0.0028	0.0077	0	0	0.0053	0	0.0037	.	.	.	.	0.0001	0.0003	0.0001	0.0001	0.0030	9.78e-05	9.099e-05	0.0017	0.0013	0.0002	0	0	0.0003	0.0002	0.0030	0.0001	0.0001	8.545e-05	0.0002	0.0008	0.0002	0.0003	0.0009	0.0002	0.0002	0.0003	0.0001	2.975e-05	0	0.0003	0.0010	0.0003	0.0003	0.0050	0.0003	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	903.78	88	chr6	167976258	.	GCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	G,*	903.78	.	AC=1,9;AF=0.024,0.214;AN=42;BaseQRankSum=0.795;DP=1112;ExcessHet=0.0097;FS=23.164;InbreedingCoeff=0.4872;MLEAC=1,9;MLEAF=0.024,0.214;MQ=52.39;MQRankSum=0.079;QD=2.73;ReadPosRankSum=0.126;SOR=1.256	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,34:34:99:1|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:1519,1519,1519,104,104,0:167976249	14	0	1	0
chr6	167976258	167976342	GCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	0	exonic	HGC6.3	.	.	.	.	.	452	926	15	0	129	144	0.00803428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	903.78	88	chr6	167976258	.	GCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	G,*	903.78	.	AC=1,9;AF=0.024,0.214;AN=42;BaseQRankSum=0.795;DP=1112;ExcessHet=0.0097;FS=23.164;InbreedingCoeff=0.4872;MLEAC=1,9;MLEAF=0.024,0.214;MQ=52.39;MQRankSum=0.079;QD=2.73;ReadPosRankSum=0.126;SOR=1.256	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,34:34:99:1|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:1519,1519,1519,104,104,0:167976249	14	0	1	0
chr6	167976273	167976273	A	0	exonic	HGC6.3	.	.	.	.	.	664	522	164	53	119	389	0.205479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	3195.59	88	chr6	167976273	.	A	*,C	3195.59	.	AC=10,6;AF=0.250,0.150;AN=40;BaseQRankSum=0.163;DP=1063;ExcessHet=1.8260;FS=13.368;InbreedingCoeff=0.0227;MLEAC=10,5;MLEAF=0.250,0.125;MQ=55.81;MQRankSum=-3.188e+00;QD=4.92;ReadPosRankSum=0.937;SOR=0.885	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,34,0:34:99:1|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:1519,104,0,1519,104,1519:167976249	7	3	4	1
chr6	167976287	167976287	T	0	exonic	HGC6.3	.	.	.	.	.	7	149	13	0	57	70	0.0418006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	711.4	88	chr6	167976287	.	T	G,*	711.4	.	AC=2,8;AF=0.050,0.200;AN=40;BaseQRankSum=0.231;DP=1079;ExcessHet=0.2410;FS=14.973;InbreedingCoeff=0.2323;MLEAC=2,8;MLEAF=0.050,0.200;MQ=55.12;MQRankSum=2.13;QD=1.96;ReadPosRankSum=-5.620e-01;SOR=1.152	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,34:34:99:1|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:1519,1519,1519,104,104,0:167976249	12	0	2	1
chr6	167976288	167976288	T	0	exonic	HGC6.3	.	.	.	.	.	556	780	60	5	121	191	0.0429448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	677.4	88	chr6	167976288	.	T	G,*	677.4	.	AC=2,8;AF=0.050,0.200;AN=40;BaseQRankSum=1.98;DP=1079;ExcessHet=0.2410;FS=14.840;InbreedingCoeff=0.2323;MLEAC=2,8;MLEAF=0.050,0.200;MQ=54.99;MQRankSum=2.13;QD=1.88;ReadPosRankSum=-6.700e-01;SOR=1.164	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,34:34:99:1|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:1519,1519,1519,104,104,0:167976249	12	0	2	1
chr6	167976329	167976329	T	0	exonic	HGC6.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	8324.06	88	chr6	167976329	.	T	G,*	8324.06	.	AC=9,1;AF=0.281,0.031;AN=32;BaseQRankSum=2.86;DP=1186;ExcessHet=0.0120;FS=13.202;InbreedingCoeff=0.2945;MLEAC=11,1;MLEAF=0.344,0.031;MQ=51.60;MQRankSum=0.844;QD=22.68;ReadPosRankSum=0.073;SOR=1.243	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,56,0:56:99:1|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:2399,168,0,2400,169,2400:167976249	9	3	3	5
chr6	168063722	168063722	C	T	exonic	FRMD1	.	nonsynonymous SNV	FRMD1:NM_001122841:exon6:c.G479A:p.R160Q	.	.	396	1093	33	0	0	33	0.0148716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.53	P	0.06	B	0.144	N	1.000	D	0.805	L	-1.01	T	-1.031	T	0.107	T	0.147	0.061	4.333	-0.459	0.011	1.103	6.333	0.139	.	0.0066	0.00519169	0.0082	0.0016	0.0029	0.0003	0.0131	0.0085	0.0157	0.0166	0.008137	1258	154602	rs73028318	0.0096	0.0097	0.0095	0.0098	0.0148	0.0095	0.0095	0.0142	0.0139	0.0012	0.0032	0.0017	0.0002	0.0124	0.0069	0.0102	0.0095	0.0148	0.0071	0.0071	0.0070	0.0072	0.0147	0.0068	0.0066	0.0120	0.0110	0.0018	0.0088	0.0065	0.0014	0.0006	0.0131	0	0.0098	0.0090	0.0147	0.158	0.23997	T	0.374	0.17217	T	0.178	0.28960	B	0.037	0.23121	B	0.143925	0.18195	N	0.506221	1	0.81001	D	1.525	0.38595	L	-1.01	0.76168	T	-1.34	0.33998	N	0.274	0.31027	-1.0314	0.20002	T	0.107	0.39003	T	10	0.008030266	0.00182	T	.	.	.	0.139	0.37390	.	.	0.367992661779	0.36405	0.0659619330599379	0.06535	0.116831578632	0.13174	0.341306209564	0.16634	T	0.04755	0.27756	T	-0.406172	0.02108	T	-0.34389	0.39904	T	0.0152888524534329	0.00338	T	0.761424	0.38629	T	0.0438898	0.06921	0.06154453	0.11902	0.0438898	0.06921	0.06154453	0.11902	-6.369	0.49876	T	.	.	0.076	0.08512	B	.;.;.;.;.	.;.;.;.;.	1.384160	0.17959	13.47	0.7419690203460485	0.10606	0.16861	0.19582	N	AEFDBI	0.110399	0.21893	N	-1.28780946048917	0.03821	0.1713939	-1.33591555271807	0.03974	0.1865234	0.345152342474357	0.19624	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	2.83	-0.459	0.11571	1.272000	0.32712	-1.969000	0.04416	-1.468000	0.01074	0.888000	0.31154	0.000000	0.08366	0.005000	0.06747	0.0:0.2703:0.0:0.7297	6.333	0.20489	988	0.01987	FERM central domain|FERM domain|Band 4.1 domain|FERM central domain;FERM central domain|FERM domain|Band 4.1 domain|FERM central domain;FERM central domain|FERM domain|Band 4.1 domain|FERM central domain;.;FERM central domain|FERM domain|Band 4.1 domain|FERM central domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1224.98	33	chr6	168063722	.	C	T	1224.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.39;DP=830;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.50;ReadPosRankSum=1.92;SOR=0.668	GT:AD:DP:GQ:PL	0/1:77,52:129:99:1239,0,1678	20	0	1	0
chr6	169662385	169662385	C	T	exonic	WDR27	.	nonsynonymous SNV	WDR27:NM_001350623:exon4:c.G371A:p.G124E	.	.	431	1083	8	0	0	8	0.00367985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.42	B	0.155	B	0.654	N	1.000	N	0.84	L	2.31	T	-1.001	T	0.008	T	0.251	-1.183	0.081	1.03	0.004	0.203	3.068	0.028	.	0.0004	0.00519169	0.0024	0	0	0.0251	0.0009	0.0006	0.0045	0.0016	0.0022121	342	154602	rs117912086	0.0010	0.0010	0.0010	0.0010	0.0226	0.0010	0.0010	0.0214	0.0209	0	2.236e-05	0.0002	0.0226	0.0011	0.0002	0.0002	0.0015	0.0022	0.0013	0.0013	0.0011	0.0016	0.0268	0.0012	0.0011	0.0232	0.0218	2.405e-05	0	6.534e-05	0.0003	0.0268	0.0008	0	0.0003	0.0009	0.0052	0.613	0.12469	T	0.434	0.13557	T	0.42	0.35330	B	0.155	0.34417	B	0.653589	0.05938	N	1.191300	1	0.08975	N	.	.	.	2.06	0.21666	T	-1.3	0.35194	N	0.22	0.24634	-1.0014	0.29516	T	0.008	0.02926	T	10	0.0034893453	0.00062	T	.	.	.	0.028	0.06331	.	.	0.0401082797425	0.02173	0.20662551734677995	0.20578	0.0247552032624	0.02524	0.240888267756	0.02870	T	.	.	.	-0.572011	0.00215	T	-0.574158	0.15070	T	0.00569031873800063	0.00062	T	0.577542	0.20782	T	.	.	.	.	.	.	.	.	-4.014	0.24013	T	.	.	0.092	0.13690	B	.;.;.	.;.;.	0.164172	0.05541	2.002	0.25811547206820651	0.01207	0.01587	0.05162	N	AEFDBI	0.029772	0.02872	N	-1.12437280839479	0.06212	0.2853535	-1.14874803440595	0.06790	0.3280572	0.326185893783615	0.19436	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.44	1.03	0.19161	-0.104000	0.10893	-0.243000	0.10574	-0.281000	0.06419	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.268:0.2322:0.4998	3.068	0.05845	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	0.02381	985.98	35	chr6	169662385	.	C	T	985.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.85;DP=802;ExcessHet=0.0000;FS=1.639;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.57;ReadPosRankSum=-8.430e-01;SOR=0.800	GT:AD:DP:GQ:PL	0/1:64,39:103:99:1000,0,1593	20	0	1	0
chr6	170561952	170561952	A	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	48	390	47	5	1032	1089	0.0681004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	942.0	42	chr6	170561952	.	A	*,G	942.0	.	AC=35,1;AF=0.833,0.024;AN=42;BaseQRankSum=0.00;DP=3619;ExcessHet=0.1217;FS=0.775;InbreedingCoeff=0.2222;MLEAC=35,1;MLEAF=0.833,0.024;MQ=60.00;MQRankSum=0.00;QD=0.75;ReadPosRankSum=1.62;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,65,0:66:99:1|1:170561949_GCAA_G:2509,158,0,2513,202,2556:170561949	1	15	4	0
chr6	170561961	170561961	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	128	893	348	41	112	542	0.194043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	20125.09	79	chr6	170561961	.	G	GCAA,*,A	20125.09	.	AC=13,1,1;AF=0.406,0.031,0.031;AN=32;BaseQRankSum=0.493;DP=3427;ExcessHet=8.1482;FS=0.000;InbreedingCoeff=-0.5184;MLEAC=15,1,1;MLEAF=0.469,0.031,0.031;MQ=59.97;MQRankSum=0.00;QD=15.10;ReadPosRankSum=0.905;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,58,0,0:118:99:0|1:170561949_GCAA_G:1748,0,2201,1737,2118,4837,1737,2118,4837,4837:170561949	2	1	11	5
chr6	170561964	170561964	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	68	560	433	93	368	987	0.355952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5526	18848.46	88	chr6	170561964	.	G	*,A	18848.46	.	AC=7,16;AF=0.184,0.421;AN=38;BaseQRankSum=-8.830e-01;DP=3263;ExcessHet=5.5923;FS=1.104;InbreedingCoeff=-0.3506;MLEAC=7,17;MLEAF=0.184,0.447;MQ=59.96;MQRankSum=0.00;QD=10.91;ReadPosRankSum=2.22;SOR=0.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,53,3:116:99:.:.:2029,0,2222,1959,1988,4005	1	1	3	2
chr6	170561967	170561967	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	46	879	60	4	533	601	0.0372399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	1014.59	36	chr6	170561967	.	G	*,A	1014.59	.	AC=7,1;AF=0.167,0.024;AN=42;BaseQRankSum=0.850;DP=1725;ExcessHet=0.5418;FS=3.273;InbreedingCoeff=0.0735;MLEAC=7,1;MLEAF=0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=2.63;SOR=0.490	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,31,0:108:99:0|1:170561963_AGC_A:1831,0,2933,1866,3246,5968:170561963	14	1	5	0
chr7	1092847	1092847	T	G	exonic	GPER1	.	nonsynonymous SNV	GPER1:NM_001098201:exon2:c.T1119G:p.S373R	.	.	424	1092	6	0	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.007	B	0.003	B	.	.	0.536	N	0.55	N	-0.37	T	-0.999	T	0.108	T	0.145	1.001	9.089	-4.52	-1.228	-1.721	10.534	0.091	0.037833113855	0.0054	0.00139776	0.0041	0.0017	0.0007	0.0006	0.0037	0.0060	0.0059	0.0021	0.0038809	600	154602	rs138657567	0.0064	0.0064	0.0065	0.0063	0.0076	0.0063	0.0063	0.0075	0.0074	0.0011	0.0018	0.0033	0.0001	0.0034	0.0007	0.0076	0.0055	0.0022	0.0045	0.0046	0.0048	0.0043	0.0076	0.0043	0.0042	0.0071	0.0069	0.0015	0	0.0020	0.0035	0	0.0045	0	0.0076	0.0043	0.0021	0.002	0.72154	D	0.009	0.66756	D	0.007	0.14184	B	0.003	0.08700	B	.	.	.	.	0.535789	0.31453	N	0	0.06538	N	-0.37	0.68892	T	-1.21	0.30762	N	0.124	0.11626	-0.9991	0.30171	T	0.108	0.39075	T	9	0.004355788	0.00088	T	0.037833	0.57860	D	0.091	0.26358	0.332	0.31843	0.467329300633	0.46359	0.5271054720499917	0.52634	0.66616035281	0.59178	0.580799221992	0.50199	T	0.093243	0.39172	T	-0.509059	0.00508	T	-0.490378	0.23352	T	0.00395940100505138	0.00042	T	0.510449	0.16283	T	0.25246072	0.48262	0.14245135	0.33888	0.25246072	0.48262	0.14245135	0.33887	-6.134	0.47387	T	.	.	0.182	0.39511	B	.;.;.;.	.;.;.;.	-0.638211	0.01470	0.091	0.95671881300114092	0.27519	0.12565	0.17346	N	AEFGBCI	0.072513	0.14475	N	-1.35036913828797	0.03121	0.1389116	-1.41011299457103	0.03150	0.1463814	0.999999866678038	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.578056	0.29568	0	0.491896	0.07777	0	.	.	5.39	-4.52	0.03227	-2.149000	0.01377	-7.082000	0.01236	-0.722000	0.03793	0.000000	0.06391	0.000000	0.08366	0.055000	0.15596	0.1086:0.5388:0.0:0.3526	10.534	0.44185	906	0.23090	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1881.98	129	chr7	1092847	.	T	G	1881.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.000e-02;DP=2071;ExcessHet=0.0000;FS=3.876;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.80;ReadPosRankSum=-5.770e-01;SOR=1.027	GT:AD:DP:GQ:PL	0/1:73,74:147:99:1896,0,1885	20	0	1	0
chr7	1448629	1448629	G	A	exonic	MICALL2	.	nonsynonymous SNV	MICALL2:NM_182924:exon3:c.C325T:p.R109C,	.	.	427	1071	23	1	0	25	0.0115367	.	.	699918	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.062	B	0.025	B	0.204	U	0.751	N	1.395	L	-0.64	T	-0.830	T	0.172	T	0.166	1.401	10.62	2.17	0.729	3.705	8.755	0.157	.	0.0071	0.00479233	0.0087	0.0018	0.0020	0.0005	0.0191	0.0114	0.0091	0.0070	0.0076066	1176	154602	rs149008569	0.0094	0.0094	0.0095	0.0092	0.0103	0.0092	0.0092	0.0102	0.0101	0.0010	0.0028	0.0003	0.0002	0.0182	0.0033	0.0103	0.0079	0.0070	0.0064	0.0064	0.0059	0.0070	0.0091	0.0061	0.0059	0.0085	0.0082	0.0016	0	0.0039	0	0	0.0171	0	0.0091	0.0066	0.0077	0.002	0.72154	D	0.053	0.47336	T	0.062	0.23277	B	0.025	0.20508	B	0.204195	0.16524	U	0.328359	0.750982	0.29638	N	1.1	0.28011	L	-0.64	0.72125	T	-5.89	0.88767	D	0.628	0.64223	-0.8300	0.53301	T	0.172	0.51325	T	10	0.0089377165	0.00202	T	.	.	.	0.157	0.40909	.	.	0.669649519912	0.66686	0.5963431761618546	0.59564	0.0151113110885	0.01436	0.60476732254	0.53578	T	0.028433	0.20599	T	-0.391391	0.02635	T	-0.325588	0.41959	T	0.0882496158479904	0.11008	T	0.859314	0.55085	D	0.27553666	0.50617	0.2612253	0.51897	0.32503945	0.55061	0.2612253	0.51896	-11.305	0.81304	D	.	.	0.410	0.60112	A	.	.	4.712043	0.75714	26.4	0.99152294465325619	0.53848	0.77618	0.38184	D	AEFBCI	0.336419	0.43454	N	-0.394207129253607	0.25674	1.395	-0.354555307800919	0.26369	1.456023	0.995439403190456	0.34125	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.756605	0.99741	0	.	.	4.19	2.17	0.26736	3.795000	0.55203	7.096000	0.57520	0.652000	0.53365	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:0.1438:0.5665:0.2897	8.755	0.33801	932	0.16191	.	.	.	.	.	.	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	0.02381	962.98	45	chr7	1448629	.	G	A	962.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.47;DP=832;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.45;ReadPosRankSum=-6.320e-01;SOR=0.725	GT:AD:DP:GQ:PL	0/1:70,44:114:99:977,0,1609	20	0	1	0
chr7	3951786	3951786	-	CCT	exonic	SDK1	.	nonframeshift insertion	SDK1:NM_152744:exon7:c.1016_1017insCCT:p.L340_H341insL,	.	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.00119808	0.0014	0.0002	0.0009	0	0.0006	0.0016	0.0011	0.0024	0.0002305	6	26028	rs557107791	0.0009	0.0009	0.0009	0.0010	0.0049	0.0009	0.0009	0.0034	0.0030	0.0001	0.0008	0.0018	0	0.0003	0.0049	0.0008	0.0018	0.0022	0.0007	0.0007	0.0006	0.0008	0.0027	0.0006	0.0006	0.0016	0.0013	0.0002	0.0044	0.0005	0.0009	0	0.0003	0	0.0010	0.0005	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2016.94	34	chr7	3951786	.	G	GCCT	2016.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.040e-01;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.05;ReadPosRankSum=-7.510e-01;SOR=0.647	GT:AD:DP:GQ:PL	0/1:79,55:134:99:2031,0,3152	20	0	1	0
chr7	5313028	5313028	-	GAGGAT	exonic	TNRC18	.	nonframeshift insertion	TNRC18:NM_001080495:exon27:c.7862_7863insATCCTC:p.S2671_T2672insSS,	.	.	447	380	383	306	6	1001	0.566952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0170	0.0195	0.0098	0.0052	0	0.0151	0.0270	0.0187	0.0104591	1617	154602	rs768319122	0.0012	0.0023	0.0011	0.0012	0.0020	0.0011	0.0011	0.0017	0.0016	0.0001	0.0008	4.831e-05	0	0.0001	0	0.0013	0.0010	0.0020	0.0010	0.0029	0.0012	0.0008	0.0017	0.0009	0.0008	0.0014	0.0013	0.0004	0	0.0007	0	0.0004	0	0	0.0017	0.0020	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	16164.21	33	chr7	5313028	.	G	T,GGAGGAT	16164.21	.	AC=27,1;AF=0.643,0.024;AN=42;BaseQRankSum=-6.260e-01;DP=860;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5000;MLEAC=27,1;MLEAF=0.643,0.024;MQ=59.83;MQRankSum=0.00;QD=19.78;ReadPosRankSum=0.311;SOR=0.716	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:16,21,0:37:99:.:.:599,0,452,647,515,1162	0	6	14	0
chr7	5943410	5943410	C	T	exonic	RSPH10B;RSPH10B2	.	nonsynonymous SNV	RSPH10B2:NM_001099697:exon15:c.G1672A:p.E558K	.	.	435	1078	9	0	0	9	0.00415704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.986	D	0.844	P	0.162	N	1.000	D	2.32	M	0.48	T	-0.514	T	0.270	T	0.369	2.875	15.58	3.38	1.859	3.367	10.598	0.326	0.0660850607106	0.0002	0.000199681	0.0005	0	0.0015	0	0	0.0004	0.0045	0.0006	3.84e-05	1	26028	rs201897178	0.0002	0.0003	0.0002	0.0003	0.0155	0.0002	0.0002	0.0129	0.0119	6.079e-05	0.0011	0	0	0	0.0155	0.0001	0.0004	0.0008	0.0001	0.0001	0.0001	0.0001	0.0003	7.159e-05	5.803e-05	9.13e-05	5.489e-05	0	0	0.0003	0	0	0	0.0136	0.0001	0.0005	0.0002	0.008	0.58626	D	0.019	0.59159	D	0.919	0.50927	P	0.395	0.44317	B	0.161947	0.17635	N	0.519619	0.639816	0.81001	D	2.25	0.63811	M	0.48	0.55945	T	-2.67	0.57110	D	0.628	0.65074	-0.5136	0.68154	T	0.270	0.64109	T	10	0.108860075	0.20283	T	0.066085	0.69770	D	0.326	0.64826	.	.	0.349647731962	0.34572	0.3946435165294966	0.39379	.	.	0.783897995949	0.79517	T	0.017015	0.13954	T	-0.338899	0.05465	T	-0.310022	0.43657	T	0.0971406477475053	0.12039	T	0.834417	0.50357	T	0.2099778	0.43281	0.23349634	0.48541	0.2099778	0.43281	0.23349634	0.48540	-9.408	0.70285	D	.	.	0.207	0.43421	B	.;.;.	.;.;.	4.076322	0.60605	24.2	0.99884102643492667	0.95970	0.90259	0.51294	D	AEFI	0.296539	0.40636	N	0.387759776499367	0.60758	4.268332	0.306870714345566	0.55941	3.757152	1.94391926869574E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.38	3.38	0.37806	3.528000	0.53279	7.451000	0.58961	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.823000	0.38780	0.0:0.8028:0.1972:0.0	10.598	0.44542	889	0.27310	.;.;.	.	.	.	.	.	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	0.02381	1238.98	200	chr7	5943410	.	C	T	1238.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.450e-01;DP=2852;ExcessHet=0.0000;FS=0.649;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=39.81;MQRankSum=-5.560e-01;QD=8.10;ReadPosRankSum=0.073;SOR=0.615	GT:AD:DP:GQ:PL	0/1:100,53:153:99:1253,0,3018	20	0	1	0
chr7	5967037	5967037	T	C	exonic	RSPH10B;RSPH10B2	.	nonsynonymous SNV	RSPH10B2:NM_001099697:exon3:c.A80G:p.D27G	.	.	499	1014	7	2	0	11	0.0053948	.	.	2335252	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.799	P	0.318	B	0.190	N	1.000	N	0.895	L	0.52	T	-0.971	T	0.132	T	0.197	2.388	13.94	3.07	0.366	0.548	7.521	0.046	0.0259481320236	0.0002	.	0.0007	0	0.0024	0	0	0.0007	0.0041	0.0007	3.84e-05	1	26028	rs201581470	0.0004	0.0003	0.0003	0.0004	0.0197	0.0003	0.0003	0.0165	0.0153	0.0001	0.0013	0	0	0	0.0197	0.0002	0.0005	0.0010	8.235e-05	0.0001	7.875e-05	8.628e-05	0.0002	2.72e-05	1.693e-05	1.581e-05	6.53e-06	0	0	0.0002	0	0	0	0.0147	8.953e-05	0	0	0.01	0.56456	D	0.039	0.51112	D	0.799	0.44910	P	0.318	0.41660	B	0.190453	0.03246	N	1.685050	1	0.08975	N	1.04	0.26193	L	0.52	0.55266	T	-2.73	0.58085	D	0.112	0.09914	-0.9705	0.37094	T	0.132	0.44386	T	10	0.018380255	0.00399	T	0.025948	0.48891	D	0.046	0.12618	.	.	0.244539031024	0.24083	0.2762730336732364	0.27540	.	.	0.41863566637	0.27649	T	0.052736	0.29245	T	-0.447621	0.01166	T	-0.498785	0.22475	T	0.0510102409200706	0.05677	T	0.713029	0.32487	T	0.17294878	0.38015	0.18324561	0.41302	0.17294878	0.38014	0.18324561	0.41301	-4.628	0.32521	T	.	.	0.102	0.17827	B	.;.;.	.;.;.	1.764643	0.22442	15.62	0.97884187324811822	0.36621	0.03731	0.09026	N	AEFGI	0.050594	0.08858	N	-0.510871225375725	0.21727	1.155218	-0.604990627600514	0.19364	1.038623	2.18227362011084E-4	0.05997	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.48	3.07	0.34476	0.181000	0.16691	3.344000	0.37731	0.644000	0.52426	0.000000	0.06391	1.000000	0.68203	0.421000	0.27250	0.0:0.075:0.1426:0.7824	7.521	0.26797	878	0.29785	.;.;.	.	.	.	.	.	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	0.02632	1039.71	33	chr7	5967037	.	T	C	1039.71	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.160e+00;DP=769;ExcessHet=0.0000;FS=3.617;InbreedingCoeff=-0.0270;MLEAC=1;MLEAF=0.026;MQ=33.08;MQRankSum=-6.900e-02;QD=10.40;ReadPosRankSum=-9.690e-01;SOR=0.363	GT:AD:DP:GQ:PL	0/1:56,44:100:99:1053,0,1409	18	0	1	2
chr7	6594580	6594580	C	T	exonic	C7orf26	.	nonsynonymous SNV	C7orf26:NM_001303039:exon3:c.C503T:p.A168V	.	.	435	1076	11	0	0	11	0.00508553	.	.	3264294	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.987	D	0.511	P	0.000	D	1.000	D	1.79	L	0.89	T	-0.851	T	0.142	T	0.577	2.923	15.74	4.93	2.655	4.862	16.452	0.220	0.0110526678689	0.0007	0.000599042	0.0008	0.0009	0.0016	0	0.0003	0.0008	0.0033	0.0005	0.0007115	110	154602	rs35427124	0.0005	0.0005	0.0004	0.0005	0.0172	0.0005	0.0004	0.0144	0.0134	0.0005	0.0013	0.0021	0	5.624e-05	0.0172	0.0003	0.0007	0.0011	0.0004	0.0004	0.0004	0.0005	0.0006	0.0004	0.0003	0.0004	0.0004	0.0006	0	0.0005	0.0020	0	9.43e-05	0.0136	0.0002	0.0005	0.0006	0.1	0.33923	T	0.063	0.45110	T	0.987	0.61912	D	0.511	0.47948	P	0.000002	0.62929	D	0.100882	0.999996	0.58761	D	0.69	0.16971	N	0.89	0.45636	T	-1.51	0.39692	N	0.25	0.38438	-0.8513	0.51878	T	0.142	0.46239	T	10	0.027013034	0.00855	T	0.011053	0.28270	T	0.220	0.51569	.	.	0.202312658747	0.19855	0.4020047128335823	0.40116	0.154366644916	0.17432	.	.	.	0.046447	0.27428	T	-0.356078	0.04357	T	-0.32981	0.41489	T	0.0291930333770117	0.01867	T	0.911109	0.68490	D	0.12707783	0.29748	0.10479889	0.25179	0.12707783	0.29747	0.10479889	0.25178	-4.304	0.28232	T	.	.	0.121	0.35643	B	.;.	.;.	2.401225	0.30853	18.56	0.99441128259015299	0.64770	0.98517	0.83624	D	AEFBI	0.514344	0.54176	D	0.325756734542429	0.57474	3.914847	0.266532639509435	0.53596	3.527731	0.999998950600494	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.93	4.93	0.64394	4.915000	0.63054	.	.	0.576000	0.29215	1.000000	0.71638	0.999000	0.35428	0.126000	0.19410	0.0:1.0:0.0:0.0	16.452	0.83838	836	0.38045	.;.	.	.	.	.	.	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	0.02381	1140.98	35	chr7	6594580	.	C	T	1140.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.749;DP=774;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.91;ReadPosRankSum=0.00;SOR=0.741	GT:AD:DP:GQ:PL	0/1:35,47:82:99:1155,0,722	20	0	1	0
chr7	6622246	6622246	G	A	exonic	ZNF853	.	nonsynonymous SNV	ZNF853:NM_001353546:exon3:c.G1210A:p.A404T	.	.	430	1080	12	0	0	12	0.00552486	.	.	3358536	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230554265019	.	.	0.0015	0	0	0	0	0.0033	0	0.0011	0.0001552	24	154602	rs775989861	0.0004	0.0004	0.0003	0.0004	0.0103	0.0003	0.0003	0.0078	0.0069	0.0004	0.0011	0.0022	0	0	0.0103	0.0002	0.0008	0.0011	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0002	0.0002	7.215e-05	0	0.0005	0.0020	0	0	0.0137	0.0002	0.0005	0.0006	0.019	0.50132	D	0.631	0.07173	T	0.417	0.35244	B	0.055	0.25995	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.1	0.08283	T	-0.88	0.23808	N	0.091	0.06990	.	.	.	.	.	.	.	0.00966388	0.00217	T	0.230554	0.88236	D	.	.	.	.	0.428401797576	0.42457	0.21968417619730124	0.21884	0.0190438721776	0.01855	0.820012390614	0.85029	D	0.002531	0.01924	T	-0.623305	0.00105	T	-0.718551	0.04866	T	.	.	.	0.420658	0.11177	T	0.04191182	0.06261	0.05183109	0.08422	0.04191182	0.06261	0.05183109	0.08421	-5.807	0.44635	T	.	.	0.127	0.27039	B	.	.	2.055653	0.26134	17.01	0.96864014166363699	0.31392	0.11651	0.16773	N	AEFDBCI	0.072019	0.14358	N	.	.	.	.	.	.	0.550249490816514	0.21327	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.11	-0.00402	0.13346	0.373000	0.20215	.	.	0.580000	0.29708	0.002000	0.15269	0.000000	0.08366	0.034000	0.13613	0.1293:0.4368:0.4339:0.0	5.213	0.14651	773	0.48803	.	.	.	.	.	.	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	0.02381	657.99	27	chr7	6622246	.	G	A	657.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.980e-01;DP=601;ExcessHet=0.0000;FS=1.186;InbreedingCoeff=-0.0252;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.30;ReadPosRankSum=-2.890e-01;SOR=0.922	GT:AD:DP:GQ:PL	0/1:16,27:43:99:672,0,371	20	0	1	0
chr7	7673314	7673319	AGCAGC	-	splicing	UMAD1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	16242.43	19	chr7	7673310	.	TAGCAGCAGC	T,TAGCAGCAGCAGC,TAGC,TAGCAGC,TAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	16242.43	.	AC=16,7,3,1,1,1;AF=0.381,0.167,0.071,0.024,0.024,0.024;AN=42;BaseQRankSum=0.257;DP=845;ExcessHet=4.5793;FS=1.329;InbreedingCoeff=-0.2255;MLEAC=16,7,3,1,1,1;MLEAF=0.381,0.167,0.071,0.024,0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=28.25;ReadPosRankSum=-2.670e-01;SOR=0.560	GT:AD:DP:GQ:PL	0/1:17,13,0,0,0,0,0:30:99:495,0,674,546,714,1260,546,714,1260,1260,546,714,1260,1260,1260,546,714,1260,1260,1260,1260,546,714,1260,1260,1260,1260,1260	1	3	5	0
chr7	21901198	21901198	G	A	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon82:c.G13495A:p.E4499K,	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	YES	0	1503	19	0	0	19	0.00628099	.	.	229591	not_provided|not_specified|Primary_ciliary_dyskinesia|Primary_ciliary_dyskinesia_7	MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.009	N	1.000	D	.	.	3.21	T	-0.900	T	0.007	T	0.161	-1.009	0.248	0.464	-0.362	1.057	8.917	0.032	.	0.0020	0.00299521	0.0040	0.0004	0.0008	0.0020	0.0248	0.0035	0.0078	0.0032	0.0037128	574	154602	rs143362381	0.0036	0.0036	0.0036	0.0036	0.0043	0.0036	0.0035	0.0031	0.0030	0.0008	0.0012	0.0004	0.0017	0.0232	0.0043	0.0032	0.0027	0.0025	0.0040	0.0040	0.0028	0.0052	0.0031	0.0037	0.0036	0.0026	0.0025	0.0007	0	0.0024	0	0.0019	0.0290	0.0034	0.0030	0.0019	0.0031	1.0	0.00964	T	.	.	.	.	.	.	.	.	.	0.009282	0.30429	N	0.412335	1	0.81001	D	.	.	.	3.21	0.07125	T	3.09	0.00129	N	0.156	0.16168	-0.9003	0.47962	T	0.007	0.02282	T	9	0.002060622	0.00029	T	.	.	.	0.032	0.07718	.	.	0.0846915920261	0.08053	0.16280028807902414	0.16200	.	.	0.277374863625	0.07129	T	0.013292	0.11527	T	-0.627998	0.00098	T	-0.674997	0.07292	T	0.00187411544808209	0.00019	T	0.517048	0.16713	T	0.024502672	0.01289	0.07466748	0.16358	0.03026252	0.02660	0.09242625	0.21782	-1.473	0.01710	T	0.0746207692164072	0.03251	0.067	0.02578	B	.;.;.	.;.;.	0.561602	0.09303	6.083	0.65798481415480237	0.07875	0.04817	0.10541	N	AEFGBI	0.043922	0.07004	N	-1.41959815687533	0.02467	0.108966	-1.33772817820881	0.03952	0.1854431	0.355524989978658	0.19726	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.97	0.464	0.15918	1.042000	0.29914	1.401000	0.26197	-0.550000	0.04901	0.199000	0.24297	0.109000	0.22772	0.312000	0.24784	0.6047:0.2858:0.1095:0.0	8.917	0.34747	829	0.39537	Dynein heavy chain domain;Dynein heavy chain domain;Dynein heavy chain domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	2575.98	46	chr7	21901198	.	G	A	2575.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.260e-01;DP=1081;ExcessHet=0.0000;FS=0.539;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.21;ReadPosRankSum=-1.060e-01;SOR=0.770	GT:AD:DP:GQ:PL	0/1:89,106:195:99:2590,0,2210	20	0	1	0
chr7	27095695	27095695	C	0	exonic	HOXA1	.	.	.	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	13	23	341	1132	13	2618	0.982648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	87514.16	141	chr7	27095695	.	C	T,*	87514.16	.	AC=39,2;AF=0.929,0.048;AN=42;BaseQRankSum=2.30;DP=3040;ExcessHet=0.0000;FS=1.549;InbreedingCoeff=-0.0244;MLEAC=39,2;MLEAF=0.929,0.048;MQ=60.00;MQRankSum=0.00;QD=30.42;ReadPosRankSum=-1.188e+00;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,145,0:145:99:.:.:4948,435,0,4790,440,5266	0	18	1	0
chr7	44109137	44109139	AGG	-	exonic	AEBP1	.	nonframeshift deletion	AEBP1:NM_001129:exon8:c.1049_1051del:p.E352del,	.	.	419	1099	4	0	0	4	0.00181653	.	.	1498944	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0035	.	0.0002	0	0.0003	0	0	0.0002	0	0.0002	0.0001552	24	154602	rs776612900	0.0002	0.0002	0.0002	0.0003	0.0064	0.0002	0.0002	0.0048	0.0042	5.974e-05	0.0005	7.652e-05	0	1.888e-05	0.0064	0.0002	0.0008	0.0002	0.0003	0.0003	0.0002	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	7.22e-05	0	0.0005	0	0	0	0.0034	0.0004	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1278.94	37	chr7	44109136	.	AAGG	A	1278.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.271e+00;DP=888;ExcessHet=0.0000;FS=11.722;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.19;ReadPosRankSum=1.85;SOR=1.537	GT:AD:DP:GQ:PL	0/1:45,34:79:99:1293,0,1773	20	0	1	0
chr7	44114181	44114181	A	0	exonic	AEBP1	.	.	.	.	.	0	89	99	37	1	174	0.492877	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	36873.42	35	chr7	44114181	.	A	G,*	36873.42	.	AC=18,1;AF=0.429,0.024;AN=42;BaseQRankSum=-9.170e-01;DP=2196;ExcessHet=0.0777;FS=0.000;InbreedingCoeff=0.3272;MLEAC=18,1;MLEAF=0.429,0.024;MQ=60.00;MQRankSum=0.00;QD=19.92;ReadPosRankSum=-2.890e-01;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,150,0:150:99:.:.:4532,448,0,4532,448,4532	8	5	7	0
chr7	45084224	45084224	T	0	exonic	NACAD	.	.	.	.	.	705	684	53	24	56	157	0.0687543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	773.64	33	chr7	45084224	.	T	A,*	773.64	.	AC=3,4;AF=0.136,0.182;AN=22;BaseQRankSum=1.67;DP=1143;ExcessHet=0.4362;FS=6.611;InbreedingCoeff=0.0073;MLEAC=5,6;MLEAF=0.227,0.273;MQ=47.16;MQRankSum=-4.237e+00;QD=1.81;ReadPosRankSum=-1.513e+00;SOR=1.137	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,18,0:18:54:.:.:523,54,0,523,54,523	5	1	1	10
chr7	47829595	47829595	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6565G:p.L2189V,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.067	B	0.015	B	0.801	N	1.000	N	1.43	L	2.05	T	-0.987	T	0.034	T	0.157	1.299	10.25	-2.48	-0.557	-1.200	0.856	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3214	2133.35	105	chr7	47829595	.	G	C,A	2133.35	.	AC=7,2;AF=0.250,0.071;AN=28;BaseQRankSum=-2.833e+00;DP=2292;ExcessHet=4.7172;FS=204.617;InbreedingCoeff=-0.4243;MLEAC=9,3;MLEAF=0.321,0.107;MQ=60.00;MQRankSum=0.00;QD=2.36;ReadPosRankSum=0.440;SOR=11.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:59,41,0:100:99:.:.:499,0,1454,675,1570,2245	5	0	7	7
chr7	47829595	47829595	G	A	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6565T:p.L2189F,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.325	B	0.037	B	0.801	N	1.000	N	1.43	L	1.99	T	-1.014	T	0.032	T	0.13	3.478	17.80	-2.48	-0.557	-1.200	0.856	0.011	0.00242358400914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.26300	T	0.156	0.31833	T	0.325	0.33132	B	0.037	0.23121	B	0.800789	0.06768	N	1.139820	1	0.08975	N	1.67	0.42885	L	1.99	0.21666	T	-1.12	0.28906	N	0.071	0.04426	-1.0143	0.25561	T	0.032	0.13635	T	10	0.06819993	0.09611	T	0.002424	0.04757	T	0.011	0.01250	0.462	0.53079	0.0806252709748	0.07271	0.07619938893513355	0.07555	0.119333337301	0.13438	0.287016183138	0.08490	T	0.119498	0.44106	T	-0.313121	0.07477	T	-0.687553	0.06531	T	0.07061240769398	0.08737	T	0.506949	0.16072	T	0.03793613	0.04957	0.059033968	0.11012	0.03793613	0.04957	0.059033968	0.11011	-5.256	0.39506	T	0.3493390781858841	0.44665	0.093	0.14108	B	.	.	0.478457	0.08477	5.239	0.99599511188636891	0.74101	0.00455	0.02200	N	AEFDBI	0.023300	0.01279	N	-0.856956854539942	0.11880	0.5757883	-0.946628518479765	0.11002	0.5577856	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3214	2133.35	105	chr7	47829595	.	G	C,A	2133.35	.	AC=7,2;AF=0.250,0.071;AN=28;BaseQRankSum=-2.833e+00;DP=2292;ExcessHet=4.7172;FS=204.617;InbreedingCoeff=-0.4243;MLEAC=9,3;MLEAF=0.321,0.107;MQ=60.00;MQRankSum=0.00;QD=2.36;ReadPosRankSum=0.440;SOR=11.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:59,41,0:100:99:.:.:499,0,1454,675,1570,2245	5	0	7	7
chr7	47829596	47829596	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6564G:p.C2188W,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.995	D	0.547	P	0.460	N	1.000	N	1.39	L	2.15	T	-1.059	T	0.048	T	0.465	2.843	15.47	1.54	0.218	0.068	6.370	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	5979.44	105	chr7	47829596	.	G	C,A	5979.44	.	AC=17,3;AF=0.425,0.075;AN=40;BaseQRankSum=-3.700e-02;DP=2719;ExcessHet=43.6797;FS=321.470;InbreedingCoeff=-0.9530;MLEAC=18,3;MLEAF=0.450,0.075;MQ=60.00;MQRankSum=0.00;QD=2.79;ReadPosRankSum=-7.300e-02;SOR=13.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:59,36,5:100:99:.:.:395,0,1561,331,1527,1952	0	0	17	1
chr7	48103309	48103309	A	G	exonic	UPP1	.	nonsynonymous SNV	UPP1:NM_003364:exon6:c.A334G:p.I112V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.086	B	0.052	B	0.006	N	1.000	D	0.845	L	-2.14	D	-0.815	T	0.370	T	0.147	0.709	7.777	-4.68	-0.843	1.044	14.599	0.137	0.0162703173878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.068e-05	0.0005	4.533e-05	3.607e-05	6.545e-05	3.187e-05	2.855e-05	3.432e-05	3.064e-05	6.545e-05	0	0	0	0	0	4.503e-05	0.0001	1.194e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.06669	T	0.844	0.03652	T	0.005	0.12996	B	0.013	0.16460	B	0.006375	0.32080	N	0.369553	0.659061	0.48481	D	0.65	0.16133	N	-2.14	0.86415	D	-0.25	0.11008	N	0.335	0.37613	-0.8153	0.54226	T	0.370	0.72932	T	10	0.17066589	0.31743	T	0.01627	0.37444	T	0.137	0.36984	0.393	0.41770	0.494366844524	0.49069	0.6359250264121555	0.63526	0.119767800777	0.13491	0.439313769341	0.30483	T	0.150536	0.55493	T	-0.0746563	0.40579	T	-0.345015	0.39777	T	0.0481831632055793	0.05176	T	0.90391	0.67021	D	0.036912184	0.04632	0.047135282	0.06722	0.036912184	0.04631	0.047135282	0.06722	-7.212	0.55568	T	.	.	0.115	0.22933	B	.;.;.;.	.;.;.;.	1.228969	0.16235	12.41	0.69032023839716439	0.08843	0.30303	0.24048	N	AEFDGBCI	0.037360	0.05126	N	-1.18467389851375	0.05232	0.2380039	-1.17438792066289	0.06340	0.3048925	0.99999892264264	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.43	-4.68	0.03070	1.426000	0.34478	0.250000	0.16416	-0.576000	0.04747	0.702000	0.28645	0.000000	0.08366	0.986000	0.61781	0.426:0.0:0.574:0.0	14.599	0.68020	804	0.43891	Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2368	964.53	38	chr7	48103309	.	A	G	964.53	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.089e+00;DP=1700;ExcessHet=4.7172;FS=113.804;InbreedingCoeff=-0.3130;MLEAC=10;MLEAF=0.263;MQ=59.98;MQRankSum=0.00;QD=1.11;ReadPosRankSum=0.721;SOR=10.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,14:89:50:0|1:48103308_C_G:50,0,2460:48103308	10	0	9	2
chr7	48276522	48276522	C	T	exonic	ABCA13	.	nonsynonymous SNV	ABCA13:NM_152701:exon17:c.C6856T:p.L2286F,	.	.	2	223	1	0	0	1	0.00223714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	B	0.019	B	0.736	N	1.000	N	0.97	L	-2.33	D	-0.772	T	0.386	T	0.144	-0.267	2.719	-0.669	0.113	-0.058	2.405	0.111	0.0365403737598	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1230733061	2.055e-06	2.736e-06	2.727e-06	1.377e-06	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.38863	T	0.13	0.34716	T	.	.	.	.	.	.	0.736143	0.09814	N	0.837651	1	0.08975	N	.	.	.	-2.33	0.87910	D	-1.37	0.33998	N	0.072	0.04547	-0.7716	0.56770	T	0.386	0.74121	T	9	0.061772346	0.07797	T	0.03654	0.57053	D	0.111	0.31313	0.267	0.21418	0.359357374593	0.35551	0.028077720854135742	0.02757	0.0273910062881	0.02796	0.238940030336	0.02695	T	.	.	.	-0.104729	0.35639	T	-0.388213	0.34762	T	0.015617360204909	0.00357	T	0.416058	0.10924	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.15564	B	.	.	0.885074	0.12583	9.111	0.85746424376609587	0.16086	0.03390	0.08499	N	AEFDGBI	0.048630	0.08319	N	-1.21249140068297	0.04817	0.2182425	-1.24404022694325	0.05220	0.2481935	0.00253585026236684	0.09511	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.77	-0.669	0.10815	-0.042000	0.12016	-0.323000	0.09949	-0.249000	0.07183	0.000000	0.06391	0.000000	0.08366	0.906000	0.44173	0.1289:0.4915:0.1267:0.2528	2.405	0.04140	683	0.59664	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	873.98	37	chr7	48276522	.	C	T	873.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.657;DP=896;ExcessHet=0.0000;FS=0.904;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.14;ReadPosRankSum=0.249;SOR=0.866	GT:AD:DP:GQ:PL	0/1:39,33:72:99:888,0,1062	20	0	1	0
chr7	50368104	50368104	C	G	exonic	IKZF1	.	nonsynonymous SNV	IKZF1:NM_001291845:exon4:c.C259G:p.L87V,	Immunodeficiency, common variable, 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.001	B	0.002	B	.	.	1.000	N	.	.	.	.	-1.000	T	0.055	T	0.083	0.343	5.860	-8.46	-2.174	-2.702	2.202	0.011	0.00431561606013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.5	0.15782	N	0.11	0.09631	-0.9997	0.30002	T	0.055	0.23375	T	7	0.043260276	0.03157	T	0.004316	0.10467	T	0.011	0.01250	0.272	0.22210	0.117191471859	0.11215	.	.	.	.	.	.	.	0.054479	0.29735	T	-0.291109	0.09525	T	-0.655934	0.08543	T	0.052731511290539	0.05973	T	0.256674	0.04023	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.47294	B	.	.	-1.396602	0.00363	0.007	0.40883805656463257	0.02914	0.00305	0.01619	N	AEFGBIJ	0.028154	0.02430	N	-1.474115124829	0.02034	0.08940394	-1.65084572243601	0.01371	0.06194978	0.999999998577604	0.74766	0.51972	0.21558	0	0.522029	0.08744	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.23	-8.46	0.00822	-2.694000	0.00900	-2.250000	0.03997	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.068000	0.16518	0.4857:0.2045:0.187:0.1228	2.202	0.03687	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3438	2447.51	210	chr7	50368104	.	C	G	2447.51	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-4.605e+00;DP=3458;ExcessHet=7.7275;FS=209.069;InbreedingCoeff=-0.4848;MLEAC=13;MLEAF=0.406;MQ=60.00;MQRankSum=0.00;QD=1.31;ReadPosRankSum=1.84;SOR=13.326	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:119,65:200:99:.:.:483,0,1759	5	0	11	5
chr7	64265926	64265926	C	T	exonic	ZNF679	.	nonsynonymous SNV	ZNF679:NM_153363:exon5:c.C293T:p.P98L,	.	.	435	1054	33	0	0	33	0.0154134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.004	B	0.0	B	.	.	0.998	N	-1.32	N	3.38	T	-0.935	T	0.005	T	0.179	-1.370	0.026	-1.64	-1.205	-1.885	3.561	0.017	.	0.0009	0.00359425	0.0030	0.0003	0.0007	0	0	0.0016	0.0090	0.0143	0.0026132	404	154602	rs78910755	0.0019	0.0019	0.0013	0.0024	0.0241	0.0018	0.0018	0.0209	0.0196	0.0009	0.0010	0.0016	2.521e-05	5.619e-05	0.0241	0.0010	0.0025	0.0138	0.0014	0.0014	0.0012	0.0015	0.0125	0.0012	0.0011	0.0099	0.0090	0.0003	0	0.0012	0.0006	0	0	0.0204	0.0016	0.0009	0.0125	0.322	0.13479	T	0.668	0.06345	T	0.004	0.12183	B	0.0	0.01387	B	.	.	.	.	0.998266	0.22259	N	-1.475	0.00530	N	3.38	0.05778	T	0.64	0.02368	N	0.112	0.09914	-0.9349	0.43409	T	0.005	0.01578	T	9	0.0034675002	0.00061	T	.	.	.	0.017	0.02790	.	.	0.247322355667	0.24350	0.028878203545418923	0.02837	0.00394543287202	0.00340	0.336887985468	0.15972	T	6.36E-4	0.00271	T	-0.660804	0.00062	T	-0.72876	0.04384	T	0.00156192845272504	0.00016	T	0.382462	0.09295	T	0.019914115	0.00533	0.030808495	0.01585	0.019914115	0.00532	0.030808495	0.01585	2.251	0.00041	T	.	.	0.066	0.02091	B	.;.	.;.	-0.135277	0.03438	0.630	0.21974844898338144	0.00862	0.01365	0.04666	N	AEFBCI	0.035420	0.04555	N	-1.93745839585794	0.00287	0.01232456	-1.96046554722586	0.00370	0.01634998	2.73329477662184E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.819	-1.64	0.07874	-0.429000	0.07051	.	.	-0.674000	0.04282	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5768:0.4232:0.0:0.0	3.561	0.07432	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	0.02381	2002.98	33	chr7	64265926	.	C	T	2002.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.330e-01;DP=857;ExcessHet=0.0000;FS=1.426;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.73;ReadPosRankSum=-8.340e-01;SOR=0.540	GT:AD:DP:GQ:PL	0/1:57,79:136:99:2017,0,1432	20	0	1	0
chr7	67018127	67018127	A	G	exonic	TYW1	.	nonsynonymous SNV	TYW1:NM_018264:exon6:c.A845G:p.H282R,	.	.	433	1069	20	0	0	20	0.00926784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.0	B	0.001	B	0.082	U	1.000	N	1.245	L	2.35	T	-1.017	T	0.032	T	0.069	0.887	8.600	-3.03	-0.355	0.345	5.299	0.012	0.00492190442855	0.0036	0.00139776	0.0032	0.0007	0.0021	0	0.0006	0.0049	0.0056	0.0017	0.0029624	458	154602	rs151211596	0.0027	0.0027	0.0027	0.0028	0.0177	0.0027	0.0026	0.0149	0.0139	0.0006	0.0021	0.0302	0	0.0008	0.0177	0.0022	0.0049	0.0021	0.0024	0.0024	0.0025	0.0024	0.0027	0.0022	0.0021	0.0021	0.0020	0.0006	0	0.0027	0.0315	0	0.0008	0.0170	0.0024	0.0057	0.0019	0.331	0.13088	T	0.546	0.09588	T	0.0	0.02946	B	0.001	0.04355	B	0.081652	0.02360	U	1.924850	1	0.08975	N	1.475	0.37068	L	2.35	0.16217	T	-1.39	0.34397	N	0.049	0.02088	-1.0174	0.24560	T	0.032	0.13811	T	10	0.004709065	0.00099	T	0.004922	0.12380	T	0.012	0.01476	.	.	0.0401082797425	0.02173	0.04465408029003341	0.04409	0.478080639592	0.46894	0.343472421169	0.16957	T	0.015643	0.14377	T	-0.676423	0.00050	T	-0.748402	0.03548	T	0.0079625145633254	0.00094	T	0.338066	0.08996	T	0.02772	0.02005	0.026523776	0.00746	0.02772	0.02005	0.026523776	0.00746	-4.091	0.25157	T	.	.	0.059	0.01668	B	.;.	.;.	-0.533800	0.01761	0.134	0.48357759294823449	0.04029	0.07538	0.13551	N	AEFDBIJ	0.037696	0.05221	N	-1.11572954101098	0.06363	0.2926881	-1.20958980720191	0.05755	0.2751005	0.0327877246785283	0.14072	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.1	-3.03	0.05100	0.755000	0.26070	-3.146000	0.03022	0.522000	0.23927	0.001000	0.13787	0.000000	0.08366	0.039000	0.14166	0.3219:0.4777:0.2005:0.0	5.299	0.15077	911	0.21964	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4289.11	38	chr7	67018127	.	A	G	4289.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.525;DP=1070;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.99;MQRankSum=0.838;QD=11.14;ReadPosRankSum=1.56;SOR=0.679	GT:AD:DP:GQ:PL	0/1:147,143:290:99:3488,0,3673	19	0	2	0
chr7	74041231	74041231	C	T	exonic	ELN	.	nonsynonymous SNV	ELN:NM_001081752:exon4:c.C182T:p.A61V	Cutis laxa, AD, Autosomal dominant;Supravalvar aortic stenosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	52753	Cutis_laxa,_autosomal_dominant_1|not_provided|Supravalvar_aortic_stenosis|not_specified|ELN-related_disorder	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700,Orphanet:90348|MedGen:C3661900|Human_Phenotype_Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500,Orphanet:3193|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.39	T	0.007	B	0.002	B	.	.	1.000	N	1.78	L	1.44	T	-0.960	T	0.119	T	0.527	1.177	9.789	-3.34	-0.820	-0.132	4.639	0.187	.	0.0002	0.00439297	0.0016	9.61e-05	8.637e-05	0.0183	0.0014	0.0003	0	0.0004	0.0015394	238	154602	rs41350445	0.0008	0.0008	0.0008	0.0008	0.0227	0.0008	0.0008	0.0215	0.0210	8.964e-05	0.0003	0	0.0227	0.0006	0.0007	0.0001	0.0007	0.0005	0.0010	0.0010	0.0009	0.0011	0.0195	0.0009	0.0008	0.0164	0.0153	4.812e-05	0	0.0001	0	0.0195	0.0014	0	0.0004	0	0.0008	0.43	0.28026	T	0.096	0.41405	T	0.007	0.14184	B	0.001	0.06944	B	.	.	.	.	1	0.08975	N	1.59	0.40313	L	1.44	0.77964	T	-0.51	0.27259	N	0.197	0.32812	-0.9599	0.39199	T	0.119	0.41626	T	9	0.003741473	0.00070	T	.	.	.	0.187	0.46274	.	.	0.438278051908	0.43446	0.3579927621095385	0.35713	0.181497681032	0.20404	0.463629335165	0.33809	T	0.08636	0.52846	T	-0.372322	0.03478	T	-0.293311	0.45427	T	0.00775844697461373	0.00091	T	0.524448	0.21111	T	0.017957756	0.00318	0.048910998	0.07364	0.01952172	0.00484	0.037396826	0.03382	-5.614	0.49744	T	.	.	0.123	0.42346	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	0.644343	0.10126	6.873	0.73088284792513813	0.10202	0.03067	0.07975	N	AEFBI	0.095733	0.19338	N	-1.76419145436534	0.00639	0.02755018	-1.86310248909828	0.00578	0.02564035	0.997701365370426	0.35927	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	3.11	-3.34	0.04635	-0.039000	0.12076	-0.741000	0.07619	-3.044000	0.00133	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3025:0.2569:0.4406	4.639	0.11923	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	1	0	0	1	0	1	0	0.02381	1925.98	36	chr7	74041231	.	C	T	1925.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=869;ExcessHet=0.0000;FS=2.188;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=-1.618e+00;SOR=0.952	GT:AD:DP:GQ:PL	0/1:71,71:142:99:1940,0,1765	20	0	1	0
chr7	74317562	74317562	G	A	exonic	CLIP2	.	nonsynonymous SNV	CLIP2:NM_003388:exon2:c.G16A:p.G6S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	0.995	D	0.895	L	0.12	T	-0.456	T	0.295	T	0.548	4.482	24.0	4.52	2.340	4.642	12.629	0.300	0.0579230643165	.	.	1.83e-05	0	0	0.0001	0	0	0	0.0001	1.29e-05	2	154602	rs782141623	6.119e-06	1.026e-05	4.52e-06	7.767e-06	3.028e-05	2.63e-06	1.9e-06	1.42e-06	1.03e-06	0	0	0	3.028e-05	0	0	4.855e-06	1.893e-05	1.565e-05	1.971e-05	1.97e-05	1.284e-05	2.69e-05	6.554e-05	5.24e-06	2.45e-06	.	.	2.412e-05	0	6.554e-05	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000351	0.45440	D	0.145347	0.994677	0.42372	D	1.04	0.26193	L	0.12	0.64445	T	-4.64	0.79316	D	0.582	0.63968	-0.4561	0.70198	T	0.295	0.66669	T	10	0.5254468	0.62882	D	0.057923	0.67138	D	0.300	0.62068	0.363	0.36874	0.882010386689	0.88085	0.45163436427245024	0.45081	1.71623382196	0.90501	0.75788384676	0.75614	T	0.605309	0.87410	D	0.0493776	0.58263	T	-0.166849	0.57732	T	0.928459763526917	0.59191	D	0.985301	0.94937	D	0.81613624	0.84961	0.7005456	0.82356	0.81613624	0.84962	0.7005456	0.82357	-6.351	0.49665	T	.	.	0.204	0.63820	B	.;.;.	.;.;.	4.691758	0.75187	26.3	0.99891079351428758	0.96513	0.85641	0.44796	D	AEFDBI	0.564809	0.57144	D	0.542551145197387	0.69628	5.384307	0.540079808416736	0.70710	5.545373	0.998816090908349	0.37733	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.52	4.52	0.54797	4.643000	0.61085	11.701000	0.94500	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	12.629	0.56006	906	0.23090	.;.;.	.	.	.	.	.	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	0.02381	1300.98	36	chr7	74317562	.	G	A	1300.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.676;DP=803;ExcessHet=0.0000;FS=0.778;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.75;ReadPosRankSum=-1.140e-01;SOR=0.542	GT:AD:DP:GQ:PL	0/1:51,51:102:99:1315,0,1200	20	0	1	0
chr7	75987124	75987124	A	G	exonic	TMEM120A	.	nonsynonymous SNV	TMEM120A:NM_001317803:exon12:c.T1018C:p.C340R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	0.41162	.	.	.	.	.	.	.	0.12496185	0.23740	T	.	.	.	.	.	.	.	0.184867976434	0.18130	0.45341399505614355	0.45259	.	.	.	.	.	.	.	.	-0.430762	0.01467	T	-0.856536	0.00881	T	.	.	.	0.183282	0.01882	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.10256	B	.	.	0.565066	0.09335	6.117	0.72984572038829854	0.10166	0.03531	0.08721	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.563103715132154	0.21430	0.295142	0.05270	0	0.271743	0.05004	0	0.320204	0.05785	0	0.322829	0.05601	0	0.144799	0.27030	3.24	-2.61	0.05811	0.088000	0.14821	-1.909000	0.04513	-0.572000	0.04779	0.001000	0.13787	0.000000	0.08366	0.036000	0.13842	0.1794:0.5976:0.1096:0.1134	4.479	0.11172	601	0.67921	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1459.98	35	chr7	75987124	.	A	G	1459.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.730e+00;DP=865;ExcessHet=0.0000;FS=1.533;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.27;ReadPosRankSum=0.338;SOR=0.860	GT:AD:DP:GQ:PL	0/1:48,62:110:99:1474,0,1248	20	0	1	0
chr7	77199423	77199423	T	C	exonic	FGL2	.	nonsynonymous SNV	FGL2:NM_006682:exon1:c.A371G:p.E124G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.094	B	0.016	B	0.450	N	1.000	N	1.39	L	0.28	T	-1.032	T	0.109	T	0.053	0.507	6.748	-0.971	-0.366	0.938	2.876	0.024	0.0102785696799	.	.	.	.	.	.	.	.	.	.	.	.	.	rs765321540	4.104e-06	4.104e-06	4.084e-06	4.125e-06	0.0003	1.48e-06	9.7e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	1.799e-06	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.27783	T	0.308	0.19845	T	0.094	0.25382	B	0.016	0.17743	B	0.449860	0.12521	N	0.787599	1	0.08975	N	1.445	0.36358	L	0.28	0.59037	T	-0.58	0.17417	N	0.065	0.03726	-1.0322	0.19745	T	0.109	0.39509	T	10	0.07075769	0.10338	T	0.010279	0.26632	T	0.024	0.04979	0.275	0.22687	0.273503213844	0.26977	0.2738636947966394	0.27299	0.177279006534	0.19951	0.332485020161	0.15310	T	0.227903	0.59332	T	-0.388602	0.02747	T	-0.626848	0.10655	T	0.0302658256265992	0.02030	T	0.507849	0.16117	T	0.032229073	0.03210	0.03936273	0.04010	0.032229073	0.03210	0.03936273	0.04010	-3.095	0.11239	T	.	.	0.071	0.19073	B	.;.	.;.	1.350826	0.17583	13.25	0.92558980468824326	0.22010	0.20438	0.21041	N	AEFDGBCI	0.251862	0.37166	N	-1.0759546555941	0.07088	0.3282634	-1.11359638269186	0.07440	0.361884	0.999987360751455	0.51787	0.549168	0.22868	0	0.405561	0.06353	1	0.475579	0.07313	0	0.616125	0.45549	0	.	.	6.17	-0.971	0.09777	0.829000	0.27102	-0.108000	0.11862	-0.133000	0.13014	0.001000	0.13787	0.000000	0.08366	0.029000	0.12982	0.11:0.1262:0.3544:0.4094	2.876	0.05285	480	0.77422	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2077.98	34	chr7	77199423	.	T	C	2077.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.860e-01;DP=873;ExcessHet=0.0000;FS=7.528;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.81;ReadPosRankSum=1.02;SOR=0.897	GT:AD:DP:GQ:PL	0/1:95,81:176:99:2092,0,2437	20	0	1	0
chr7	92468857	92468857	G	A	exonic	ERVW-1	.	stopgain	ERVW-1:NM_014590:exon1:c.C1525T:p.R509X	.	.	547	954	20	1	0	22	0.011399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.93	T	.	.	.	.	1.000	U	0.983	D	.	.	.	.	.	.	.	.	.	9.687	42	0.046	0.132	0.170	.	.	.	0.0003	0.00419329	0.0023	0	0.0002	0	0	0.0004	0.0011	0.0149	0.0019922	308	154602	rs151180490	0.0019	0.0018	0.0010	0.0026	0.0138	0.0018	0.0017	0.0131	0.0128	0.0002	0.0004	0	0	0	0.0028	0.0003	0.0009	0.0138	0.0006	0.0006	0.0004	0.0008	0.0124	0.0005	0.0004	0.0099	0.0090	4.813e-05	0	0.0002	0	0	9.425e-05	0	0.0003	0.0005	0.0124	.	.	.	.	.	.	.	.	.	.	.	.	1.000000	0.07966	U	0.401907	0.982513	0.39901	D	.	.	.	.	.	.	.	.	.	0.047	0.03283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.329443	0.85126	D	0.235446	0.84931	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	5.493266	0.91505	32	0.95310512125171376	0.26643	0.00403	0.02011	N	AEFI	0.057299	0.10661	N	-0.190765025704405	0.33518	1.902482	-0.611221551837486	0.19205	1.029351	2.73524271504788E-4	0.06300	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.046	0.046	0.13572	0.171000	0.16497	-0.495000	0.08836	0.171000	0.17763	0.124000	0.23245	0.019000	0.20708	0.138000	0.19872	.	.	.	609	0.67094	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025	106.33	32	chr7	92468857	.	G	A	106.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=3.51;DP=579;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=3.80;ReadPosRankSum=-5.410e-01;SOR=1.091	GT:AD:DP:GQ:PL	0/1:23,5:28:99:120,0,601	19	0	1	1
chr7	93102964	93102964	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3134C:p.G1045A	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.278	B	0.057	B	0.039	N	0.999	N	0.55	N	2.78	T	-1.004	T	0.025	T	0.135	-1.573	0.014	0.721	0.204	1.133	8.086	0.019	0.00364362051594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.739e-06	0.0001	2.726e-06	2.753e-06	2.701e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	3.828e-05	0	0	0	2.701e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.11994	T	0.365	0.16717	T	0.278	0.32022	B	0.057	0.26280	B	0.038933	0.24228	N	0.350345	0.999403	0.21245	N	1.395	0.35261	L	1.98	0.21865	T	-0.26	0.11185	N	0.172	0.18376	-1.0035	0.28903	T	0.025	0.10866	T	10	0.101587355	0.18570	T	0.003644	0.08371	T	0.019	0.03383	0.111	0.02112	0.462721901306	0.45895	0.30406387633743254	0.30319	0.206316586236	0.23055	0.261323869228	0.05050	T	0.005306	0.11036	T	-0.27156	0.11583	T	-0.627853	0.10578	T	0.260672181844711	0.23344	T	0.427357	0.11519	T	0.026715023	0.01764	0.03884978	0.03847	0.026715023	0.01763	0.03884978	0.03846	-5.641	0.43165	T	0.1164478318514886	0.10529	0.110	0.22135	B	.;.;.	.;.;.	1.711545	0.21796	15.35	0.15711081566189278	0.00394	0.77281	0.37980	D	AEFBI	0.241180	0.36284	N	-0.496248800179662	0.22203	1.183913	-0.415350861612596	0.24546	1.344766	0.0736999754895762	0.15642	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	0.721	0.17373	1.167000	0.31456	-0.698000	0.07808	-0.200000	0.08971	0.996000	0.39380	0.000000	0.08366	0.044000	0.14658	0.0:0.4337:0.0:0.5663	8.086	0.29933	806	0.43582	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2857	1784.86	153	chr7	93102964	.	C	G	1784.86	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-6.633e+00;DP=3581;ExcessHet=9.6308;FS=118.636;InbreedingCoeff=-0.4288;MLEAC=12;MLEAF=0.286;MQ=60.00;MQRankSum=0.00;QD=0.78;ReadPosRankSum=0.355;SOR=12.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,36:193:99:0|1:93102964_C_G:189,0,5648:93102964	9	0	12	0
chr7	93102965	93102965	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3133C:p.G1045R	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.013	B	0.007	B	0.039	N	0.999	N	1.1	L	2.77	T	-1.040	T	0.033	T	0.114	0.260	5.406	-0.384	-0.014	1.650	6.198	0.038	0.00358717597943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.121e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.086	0.40909	T	0.013	0.16609	B	0.007	0.12992	B	0.038933	0.24228	N	0.350345	0.998976	0.21747	N	2.2	0.62015	M	1.96	0.22270	T	-0.4	0.15782	N	0.133	0.12913	-1.0400	0.17313	T	0.033	0.13986	T	10	0.07416803	0.11303	T	0.003587	0.08216	T	0.038	0.09825	0.132	0.03662	0.251639045875	0.24756	0.3058776317445259	0.30500	0.186022872039	0.20906	0.28491345048	0.08187	T	0.005275	0.11722	T	-0.261545	0.12721	T	-0.613468	0.11704	T	0.236644327640533	0.22264	T	0.470853	0.13943	T	0.04599401	0.07624	0.049176365	0.07460	0.04599401	0.07624	0.049176365	0.07460	-5.327	0.40209	T	0.14989570008231407	0.17564	0.173	0.38025	B	.;.;.	.;.;.	2.737985	0.35852	20.1	0.81866065481440609	0.13900	0.88541	0.48516	D	AEFBI	0.296760	0.40652	N	-1.00286225320604	0.08544	0.4010124	-0.91137622340653	0.11826	0.6048167	0.111460904489544	0.16659	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	-0.384	0.11853	2.801000	0.47603	1.030000	0.23473	-1.635000	0.00848	0.985000	0.35982	0.000000	0.08366	0.009000	0.08673	0.0:0.5765:0.1236:0.2999	6.198	0.19775	806	0.43582	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4524	3255.88	153	chr7	93102965	.	C	G	3255.88	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-5.671e+00;DP=4087;ExcessHet=36.0830;FS=132.372;InbreedingCoeff=-0.8389;MLEAC=19;MLEAF=0.452;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=0.452;SOR=13.128	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,36:193:99:0|1:93102964_C_G:189,0,5648:93102964	2	0	19	0
chr7	93890656	93890656	C	T	exonic	TFPI2	.	nonsynonymous SNV	TFPI2:NM_001271003:exon1:c.G23A:p.G8E	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.0	B	0.001	B	0.110	N	1.000	N	1.24	L	0.75	T	-1.096	T	0.102	T	0.16	-0.319	2.484	-3.57	-1.248	-0.841	2.278	0.022	0.0278296537511	.	.	8.804e-06	0	0	0	0	1.612e-05	0	0	6.5e-06	1	154602	rs758084609	3.423e-06	3.42e-06	1.362e-06	5.504e-06	3.598e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.598e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.472	0.08433	T	0.495	0.11371	T	0.0	0.02946	B	0.0	0.01387	B	0.109641	0.02626	N	1.678380	1	0.08975	N	0.55	0.14455	N	0.75	0.50192	T	0.06	0.06253	N	0.066	0.03841	-1.0956	0.04667	T	0.102	0.37743	T	10	0.052499205	0.05293	T	0.02783	0.50591	D	0.022	0.04323	0.508	0.60386	0.19670166235	0.19296	0.5799518443450059	0.57924	0.169558047088	0.19113	0.392080366611	0.23963	T	0.073829	0.34792	T	-0.265733	0.12236	T	-0.619483	0.11226	T	0.0356920452866182	0.02927	T	0.332967	0.07430	T	0.08581694	0.19923	0.06630901	0.13565	0.08581694	0.19923	0.06630901	0.13564	-6.029	0.46522	T	.	.	0.210	0.51332	B	.;.;.;.;.	.;.;.;.;.	0.421799	0.07922	4.631	0.82921421619249369	0.14446	0.02544	0.07066	N	AEFDBHCI	0.065810	0.12854	N	-1.68181789113553	0.00908	0.03931397	-1.7703947269724	0.00859	0.03837472	0.999999999630476	0.74766	0.72623	0.87236	0	0.609123	0.50646	0	0.594344	0.31042	0	0.603991	0.37454	0	.	.	3.57	-3.57	0.04316	-1.759000	0.01906	-0.290000	0.10200	-0.253000	0.07101	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1222:0.4103:0.1205:0.3471	2.278	0.03856	869	0.31655	.;.;.;.;.	.	.	.	.	.	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	0.02381	561.98	34	chr7	93890656	.	C	T	561.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.929;DP=774;ExcessHet=0.0000;FS=1.116;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.96;ReadPosRankSum=-8.210e-01;SOR=0.495	GT:AD:DP:GQ:PL	0/1:25,22:47:99:576,0,643	20	0	1	0
chr7	99573342	99573342	G	A	exonic	ZNF655	.	nonsynonymous SNV	ZNF655:NM_001009960:exon3:c.G1234A:p.E412K	.	.	410	1100	10	2	0	14	0.0063234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.959	D	0.542	P	0.001	D	1.000	N	0.755	N	1.6	T	-1.073	T	0.067	T	0.471	0.566	7.061	4.19	1.451	1.208	11.794	0.149	0.00733513720442	0.0004	0.00179712	0.0015	9.625e-05	0.0004	0	0	0.0005	0.0055	0.0086	0.0013389	207	154602	rs144470445	0.0008	0.0008	0.0004	0.0011	0.0096	0.0007	0.0007	0.0091	0.0089	2.987e-05	0.0002	0.0012	0.0001	1.872e-05	0.0073	0.0001	0.0011	0.0096	0.0004	0.0004	0.0003	0.0005	0.0073	0.0003	0.0003	0.0054	0.0047	2.405e-05	0	0.0005	0.0023	0	0	0	0.0002	0.0014	0.0073	0.057	0.37966	T	0.014	0.62352	D	0.959	0.55135	D	0.542	0.48916	P	0.000559	0.43413	D	0.000000	1	0.19694	N	0.91	0.23283	L	1.6	0.28604	T	-3.32	0.66085	D	0.327	0.45237	-1.0732	0.08724	T	0.067	0.27434	T	10	0.010798901	0.00239	T	0.007335	0.19442	T	0.149	0.39377	.	.	0.0297737177859	0.01360	0.05954497527589785	0.05894	0.168576450478	0.19010	0.386692523956	0.23202	T	0.096404	0.39817	T	-0.453345	0.01079	T	-0.417719	0.31338	T	0.0434370793465221	0.04317	T	0.60064	0.22426	T	0.24259053	0.47188	0.29244402	0.55271	0.24259053	0.47188	0.29244402	0.55270	-5.024	0.37099	T	.	.	0.136	0.38640	B	.;.;.;.	.;.;.;.	3.915543	0.57135	23.8	0.98549257291906944	0.42820	0.32838	0.24683	N	AEFDGBHCI	0.121743	0.23656	N	-0.242725747999144	0.31394	1.759924	-0.329775862014499	0.27142	1.50403	0.238092526423009	0.18540	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.07	4.19	0.48645	1.027000	0.29721	8.391000	0.77086	0.676000	0.76740	0.001000	0.13787	1.000000	0.68203	0.159000	0.20615	0.0873:0.0:0.9127:0.0	11.794	0.51359	273	0.89298	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	0.02381	1292.98	36	chr7	99573342	.	G	A	1292.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.120e-01;DP=824;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=-1.640e+00;SOR=0.631	GT:AD:DP:GQ:PL	0/1:69,50:119:99:1307,0,1884	20	0	1	0
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.002	B	0.003	B	0.012	N	1.000	N	-0.69	N	0.82	T	-1.039	T	0.045	T	0.096	1.174	9.778	2.18	0.152	0.340	7.051	0.015	0.0084618148058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.746e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.264	0.22761	T	0.002	0.09854	B	0.003	0.08700	B	0.011788	0.29400	N	0.319847	0.999984	0.18198	N	1.1	0.28011	L	0.82	0.48142	T	0.09	0.05917	N	0.115	0.10340	-1.0389	0.17648	T	0.045	0.19194	T	10	0.06973243	0.10047	T	0.008462	0.22382	T	0.015	0.02232	0.409	0.44395	0.260249123532	0.25628	0.12418845572528417	0.12344	0.308157786748	0.33120	0.309577137232	0.11843	T	0.086908	0.37827	T	-0.283254	0.10325	T	-0.644651	0.09334	T	0.086081848684672	0.10746	T	0.442656	0.12286	T	0.043123998	0.06666	0.05641909	0.10077	0.043123998	0.06665	0.05641909	0.10077	-4.159	0.26155	T	.	.	0.065	0.01960	B	.	.	1.692672	0.21567	15.25	0.93331368040686369	0.23058	0.23428	0.22073	N	AEFBI	0.121001	0.23544	N	-0.863199556233683	0.11727	0.5675084	-0.716315475991125	0.16555	0.876308	0.999171803000595	0.38651	0.52065	0.21626	1	0.588066	0.40923	0	0.719019	0.79029	0	0.604944	0.38103	0	.	.	5.06	2.18	0.26813	0.676000	0.24927	3.139000	0.36475	-0.186000	0.09761	0.000000	0.06391	1.000000	0.68203	0.968000	0.53726	0.0949:0.3504:0.5547:0.0	7.051	0.24254	285	0.88719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	15996.74	114	chr7	100175805	.	G	C	15996.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.177e+00;DP=2291;ExcessHet=54.0936;FS=322.385;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=7.42;ReadPosRankSum=0.978;SOR=13.359	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,25:81:99:0|1:100175805_G_C:730,0,2217:100175805	0	0	21	0
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	11054.86	98	chr7	100773851	.	A	G,*	11054.86	.	AC=6,31;AF=0.143,0.738;AN=42;DP=2409;ExcessHet=1.1607;FS=0.796;InbreedingCoeff=-0.1351;MLEAC=6,31;MLEAF=0.143,0.738;MQ=60.00;QD=4.79;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,105:105:99:1|1:100773849_CCAT_C:4725,4725,4725,316,316,0:100773849	0	1	0	0
chr7	100773854	100773854	G	0	exonic	ZAN	.	.	.	.	.	428	134	463	356	141	1316	0.814276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	68137.53	98	chr7	100773854	.	G	GTT,*	68137.53	.	AC=31,6;AF=0.738,0.143;AN=42;BaseQRankSum=0.460;DP=2329;ExcessHet=1.1607;FS=0.793;InbreedingCoeff=-0.1351;MLEAC=31,6;MLEAF=0.738,0.143;MQ=60.00;MQRankSum=0.00;QD=29.50;ReadPosRankSum=0.812;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,105,0:105:99:1|1:100773849_CCAT_C:4725,316,0,4725,316,4725:100773849	0	11	5	0
chr7	100823805	100823805	C	T	exonic	EPHB4	.	nonsynonymous SNV	EPHB4:NM_004444:exon3:c.G250A:p.V84I,	.	.	.	.	.	.	.	.	.	.	.	1841967	Lymphatic_malformation_7|Capillary_malformation-arteriovenous_malformation_2|Cardiovascular_phenotype	MONDO:MONDO:0015009,MedGen:C4310629,OMIM:617300|MONDO:MONDO:0020785,MedGen:C4748670,OMIM:618196|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.268	B	0.076	B	0.407	N	1.000	N	0	N	2.98	T	-1.018	T	0.013	T	0.074	1.737	11.77	3.13	2.452	0.622	2.523	0.104	0.0118722675887	.	0.000199681	1.709e-05	0	0	0	0	1.562e-05	0.0012	0	1.94e-05	3	154602	rs201465765	1.232e-05	1.3e-05	1.09e-05	1.376e-05	0.0002	7.7e-06	6.35e-06	9.24e-06	4.56e-06	0	0	0	2.519e-05	1.9e-05	0.0002	8.994e-06	3.314e-05	3.479e-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	0.007	0.59928	D	0.012	0.63918	D	0.224	0.30397	B	0.076	0.28435	B	0.406795	0.13050	N	0.670270	1	0.08975	N	0.69	0.16971	N	2.98	0.09356	T	-0.36	0.13035	N	0.271	0.30687	-1.0177	0.24463	T	0.013	0.04938	T	10	0.08167815	0.13399	T	0.011872	0.29919	T	0.104	0.29647	.	.	0.143184338766	0.13958	0.35407230007921375	0.35321	0.381343856186	0.39492	0.667281329632	0.62451	T	0.051854	0.28997	T	-0.374441	0.03375	T	-0.675005	0.07291	T	0.0757057347964016	0.09429	T	0.943706	0.78720	D	0.21934722	0.44464	0.12224237	0.29489	0.21934722	0.44464	0.12224237	0.29489	-8.733	0.66830	D	0.2578162527659566	0.34838	0.097	0.17953	B	.;.;.	.;.;.	2.102933	0.26757	17.23	0.99304274371313006	0.58759	0.13681	0.17992	N	AEFDBI	0.102451	0.20550	N	-0.629581072847032	0.18059	0.9345709	-0.574809057997968	0.20151	1.084371	0.999984056878891	0.51787	0.722319	0.85440	0	0.610034	0.51514	0	0.697927	0.64325	0	0.735409	0.98432	0	.	.	5.23	3.13	0.35090	1.259000	0.32559	2.188000	0.31185	0.587000	0.30956	0.001000	0.13787	0.979000	0.30280	0.563000	0.30483	0.1946:0.5107:0.1872:0.1075	2.523	0.04400	697	0.58201	Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain|Ephrin type-B receptor 4, ligand binding domain;Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain|Ephrin type-B receptor 4, ligand binding domain;.	.	.	.	.	.	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	0.02381	2394.98	34	chr7	100823805	.	C	T	2394.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.72;DP=878;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.95;ReadPosRankSum=1.17;SOR=0.678	GT:AD:DP:GQ:PL	0/1:94,91:185:99:2409,0,2252	20	0	1	0
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	358.48	781	chr7	100952945	.	C	*,A	358.48	.	AC=19,2;AF=0.452,0.048;AN=42;BaseQRankSum=1.12;DP=13562;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=19,2;MLEAF=0.452,0.048;MQ=58.45;MQRankSum=-8.589e+00;QD=0.03;ReadPosRankSum=1.76;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:487,190,2:679:99:.:.:6512,0,19877,7894,20365,28337	0	0	19	0
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	25169.59	570	chr7	100953156	.	C	T,*	25169.59	.	AC=6,16;AF=0.143,0.381;AN=42;BaseQRankSum=6.06;DP=11437;ExcessHet=43.6797;FS=8.756;InbreedingCoeff=-0.9091;MLEAC=6,16;MLEAF=0.143,0.381;MQ=57.66;MQRankSum=-1.630e+01;QD=2.22;ReadPosRankSum=-4.630e-01;SOR=1.261	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:445,69,119:633:99:0|1:100953112_T_A:3657,2099,20577,0,15788,18327:100953112	0	0	5	0
chr7	100953158	100953158	G	0	exonic	MUC3A	.	.	.	.	.	651	699	39	0	133	172	0.0271399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	1141.98	562	chr7	100953158	.	G	*,T	1141.98	.	AC=18,2;AF=0.429,0.048;AN=42;BaseQRankSum=5.93;DP=11248;ExcessHet=43.6797;FS=14.318;InbreedingCoeff=-0.9091;MLEAC=18,2;MLEAF=0.429,0.048;MQ=57.68;MQRankSum=-1.628e+01;QD=0.11;ReadPosRankSum=-5.200e-01;SOR=1.607	GT:AD:DP:GQ:PL	0/1:441,114,49:619:99:3459,0,18174,2729,16456,21093	1	0	18	0
chr7	100953225	100953225	G	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	2681.5	334	chr7	100953225	.	G	A,*	2681.5	.	AC=9,3;AF=0.265,0.088;AN=34;BaseQRankSum=4.49;DP=8651;ExcessHet=9.6308;FS=0.000;InbreedingCoeff=-0.5000;MLEAC=10,3;MLEAF=0.294,0.088;MQ=58.08;MQRankSum=-1.903e+01;QD=0.52;ReadPosRankSum=-5.501e+00;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:419,30,33:482:99:.:.:151,196,18211,0,16274,17289	5	0	9	4
chr7	100953371	100953371	C	0	exonic	MUC3A	.	.	.	.	.	991	251	197	25	58	305	0.329773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	122869.23	574	chr7	100953371	.	C	A,*	122869.23	.	AC=20,2;AF=0.476,0.048;AN=42;BaseQRankSum=-2.807e+00;DP=13314;ExcessHet=43.6797;FS=5.958;InbreedingCoeff=-0.9091;MLEAC=20,2;MLEAF=0.476,0.048;MQ=57.56;MQRankSum=-1.348e+01;QD=10.82;ReadPosRankSum=0.229;SOR=1.110	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:416,229,0:767:99:.:.:8711,0,16741,9963,17468,27431	0	0	19	0
chr7	100953490	100953490	G	0	exonic	MUC3A	.	.	.	.	.	745	492	219	17	49	302	0.204527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	36352.82	833	chr7	100953490	.	G	T,*	36352.82	.	AC=17,2;AF=0.405,0.048;AN=42;BaseQRankSum=-2.232e+00;DP=18586;ExcessHet=36.0830;FS=0.000;InbreedingCoeff=-0.8261;MLEAC=17,2;MLEAF=0.405,0.048;MQ=57.38;MQRankSum=-1.467e+01;QD=2.05;ReadPosRankSum=5.58;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:790,122,90:1002:99:0|1:100953486_C_A:2725,0,32771,1326,29355,34215:100953486	2	0	17	0
chr7	100953494	100953494	C	0	exonic	MUC3A	.	.	.	.	.	798	546	139	16	23	194	0.135392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	16936.68	834	chr7	100953494	.	C	A,*	16936.68	.	AC=10,4;AF=0.238,0.095;AN=42;BaseQRankSum=-9.240e-01;DP=18602;ExcessHet=14.4320;FS=0.762;InbreedingCoeff=-0.5000;MLEAC=10,4;MLEAF=0.238,0.095;MQ=57.31;MQRankSum=-8.273e+00;QD=1.27;ReadPosRankSum=-1.446e+00;SOR=0.794	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:913,0,90:1003:99:.:.:1004,3751,41705,0,38024,38444	7	0	10	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4286	33287.25	909	chr7	100953548	.	C	G,T	33287.25	.	AC=15,3;AF=0.357,0.071;AN=42;BaseQRankSum=1.28;DP=19526;ExcessHet=30.0624;FS=0.819;InbreedingCoeff=-0.7477;MLEAC=15,3;MLEAF=0.357,0.071;MQ=55.79;MQRankSum=-8.386e+00;QD=1.94;ReadPosRankSum=3.82;SOR=0.845	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:956,9,110:1075:99:.:.:1741,4241,44356,0,39764,39811	3	0	15	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05	3166.8	908	chr7	100953580	.	T	G	3166.8	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-5.028e+00;DP=19164;ExcessHet=0.1072;FS=3.283;InbreedingCoeff=-0.0633;MLEAC=2;MLEAF=0.050;MQ=55.84;MQRankSum=1.36;QD=1.45;ReadPosRankSum=3.77;SOR=1.264	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:987,98:1085:99:0|1:100953515_C_T:1144,0,41149:100953515	18	0	2	1
chr7	100955170	100955170	G	0	exonic	MUC3A	.	.	.	.	.	487	947	75	0	13	88	0.0380904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	250.36	306	chr7	100955170	.	G	T,*	250.36	.	AC=3,4;AF=0.075,0.100;AN=40;BaseQRankSum=0.637;DP=7032;ExcessHet=2.5830;FS=10.762;InbreedingCoeff=-0.2103;MLEAC=2,4;MLEAF=0.050,0.100;MQ=58.89;MQRankSum=-1.674e+01;QD=0.10;ReadPosRankSum=-9.590e-01;SOR=1.815	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:394,7,32:433:99:.:.:158,1050,17573,0,16250,16448	13	0	3	1
chr7	100955586	100955586	T	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	47603.67	377	chr7	100955586	.	T	A,*	47603.67	.	AC=14,3;AF=0.350,0.075;AN=40;BaseQRankSum=-3.380e+00;DP=9878;ExcessHet=25.1139;FS=6.754;InbreedingCoeff=-0.7143;MLEAC=14,3;MLEAF=0.350,0.075;MQ=57.66;MQRankSum=-1.812e+01;QD=5.71;ReadPosRankSum=-7.510e-01;SOR=1.281	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:386,145,0:531:99:0|1:100955555_C_T:4927,0,15772,6089,16208,22297:100955555	3	0	14	1
chr7	100955587	100955587	G	0	exonic	MUC3A	.	.	.	.	.	948	292	244	32	6	314	0.345291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	46737.11	377	chr7	100955587	.	G	C,*	46737.11	.	AC=14,3;AF=0.350,0.075;AN=40;BaseQRankSum=0.104;DP=9885;ExcessHet=25.1139;FS=6.502;InbreedingCoeff=-0.7143;MLEAC=14,3;MLEAF=0.350,0.075;MQ=57.65;MQRankSum=-1.817e+01;QD=5.55;ReadPosRankSum=-6.860e-01;SOR=1.281	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:386,143,0:529:99:0|1:100955555_C_T:4843,0,15778,6005,16208,22213:100955555	3	0	14	1
chr7	100955917	100955917	G	0	exonic	MUC3A	.	.	.	.	.	766	657	81	4	14	103	0.0634355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	30532.88	499	chr7	100955917	.	G	C,*	30532.88	.	AC=10,3;AF=0.278,0.083;AN=36;BaseQRankSum=-1.985e+00;DP=19448;ExcessHet=11.8493;FS=4.100;InbreedingCoeff=-0.5273;MLEAC=11,3;MLEAF=0.306,0.083;MQ=56.33;MQRankSum=-1.229e+01;QD=2.43;ReadPosRankSum=2.52;SOR=1.144	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:945,187,0:1132:99:0|1:100955912_C_T:4591,0,39123,7336,39672,46973:100955912	5	0	10	3
chr7	100955959	100955959	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A4180G:p.T1394A,	.	.	768	680	56	1	17	75	0.0409027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175400681	7.904e-05	0.0004	3.921e-05	0.0001	0.0008	5.602e-05	4.861e-05	0.0005	0.0004	0	5.076e-05	0.0003	0	0	0	2.158e-05	0.0001	0.0008	0.0006	0.0032	0.0006	0.0006	0.0031	0.0005	0.0005	0.0019	0.0015	0.0002	0.0025	0.0014	0.0009	0	9.978e-05	0.0040	0.0006	0.0020	0.0031	.	.	.	0.216	0.26306	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.03069	.	.	.	.	.	.	.	0.11744994	0.22181	T	.	.	.	.	.	.	.	.	.	0.03036875277365848	0.02985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.260974	0.04439	T	.	.	.	.	.	.	.	.	-7.243	0.55789	T	.	.	0.110	0.21125	B	.;.	.;.	0.622094	0.09905	6.665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465000	0.21715	-2.074000	0.04252	0.688000	0.82842	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4048	23255.17	557	chr7	100955959	.	ACC	A,GCC	23255.17	.	AC=15,2;AF=0.357,0.048;AN=42;BaseQRankSum=3.10;DP=16785;ExcessHet=25.1139;FS=4.174;InbreedingCoeff=-0.6800;MLEAC=15,2;MLEAF=0.357,0.048;MQ=57.02;MQRankSum=-1.169e+01;QD=1.66;ReadPosRankSum=-1.368e+00;SOR=1.212	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:813,136,0:949:99:0|1:100955908_C_T:3263,0,33728,5711,34138,39848:100955908	4	0	15	0
chr7	100956002	100956002	C	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C4223A:p.T1408K,	.	.	737	766	17	2	0	21	0.0135222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1031611977	8.417e-05	0.0007	8.521e-05	8.322e-05	0.0004	6e-05	5.198e-05	0.0002	0.0001	0	5.954e-05	0	0	7.546e-05	0	8.937e-05	4.724e-05	0.0004	0.0005	0.0088	0.0005	0.0006	0.0019	0.0004	0.0004	0.0010	0.0007	0.0001	0	0.0006	0.0003	0	0.0013	0	0.0006	0.0010	0.0019	.	.	.	0.016	0.60972	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.06720	.	.	.	.	.	.	.	0.055023044	0.05949	T	.	.	.	.	.	.	.	.	.	0.055842908081126706	0.05525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275372	0.05417	T	.	.	.	.	.	.	.	.	-8.63	0.65287	D	.	.	0.197	0.41947	B	.;.	.;.	0.269045	0.06469	2.944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.126000	0.10539	-6.448000	0.01396	-0.256000	0.07045	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1279.11	487	chr7	100956002	.	C	A	1279.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.107e+00;DP=12806;ExcessHet=0.1072;FS=1.824;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=57.32;MQRankSum=-9.909e+00;QD=1.02;ReadPosRankSum=-1.440e-01;SOR=0.936	GT:AD:DP:GQ:PL	0/1:576,96:672:99:1091,0,23376	19	0	2	0
chr7	100956674	100956674	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C4895T:p.S1632F,	.	.	828	686	7	1	0	9	0.00651702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs900396039	0.0051	0.0029	0.0051	0.0051	0.0093	0.0049	0.0048	0.0055	0.0051	0.0022	0.0021	0.0194	0	0.0021	0.0093	0.0055	0.0054	0.0055	0.0026	0.0042	0.0030	0.0022	0.0046	0.0024	0.0023	0.0034	0.0032	0.0008	0	0.0018	0.0123	0	0.0004	0	0.0037	0.0038	0.0046	.	.	.	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.09066	.	.	.	.	.	.	.	0.011351138	0.00249	T	.	.	.	.	.	.	.	.	.	0.024629798100384948	0.02413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39686	0.10010	T	.	.	.	.	.	.	.	.	-7.929	0.63552	D	.	.	0.331	0.55299	B	.;.	.;.	1.745033	0.22204	15.52	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.460000	0.21635	-5.893000	0.01561	0.447000	0.21209	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	5412.11	585	chr7	100956674	.	C	T	5412.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.67;DP=13223;ExcessHet=0.1072;FS=2.276;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=57.90;MQRankSum=5.95;QD=3.68;ReadPosRankSum=0.196;SOR=0.503	GT:AD:DP:GQ:PL	0/1:588,133:721:99:2449,0,21941	19	0	2	0
chr7	100958135	100958135	T	0	exonic	MUC3A	.	.	.	.	.	80	0	58	87	1	233	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	24112.57	1331	chr7	100958135	.	T	C,*	24112.57	.	AC=11,1;AF=0.611,0.056;AN=18;BaseQRankSum=-1.492e+00;DP=16684;ExcessHet=5.3821;FS=1.190;InbreedingCoeff=0.0278;MLEAC=20,2;MLEAF=1.00,0.111;MQ=59.22;MQRankSum=-1.577e+00;QD=17.65;ReadPosRankSum=1.06;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:102,111,0:213:99:.:.:2616,0,2376,2919,2708,5627	0	3	5	12
chr7	100960582	100960582	T	0	exonic	MUC3A	.	.	.	.	.	0	9	197	0	20	217	0.916279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	87422.78	564	chr7	100960582	.	T	A,*	87422.78	.	AC=15,6;AF=0.357,0.143;AN=42;BaseQRankSum=0.858;DP=12953;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=15,6;MLEAF=0.357,0.143;MQ=60.00;MQRankSum=0.00;QD=6.90;ReadPosRankSum=0.163;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:426,164,127:717:99:0|1:100960582_T_A:7150,0,17013,858,13924,17871:100960582	0	0	15	0
chr7	100995392	100995392	G	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G4829T:p.S1610I,	.	.	409	1106	7	0	0	7	0.00315457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	.	.	.	.	.	.	1.000	N	0	N	2.66	T	-0.976	T	0.018	T	0.098	0.488	6.647	0.936	0.816	-0.143	5.240	0.016	0.0139564381892	.	.	0.0008	0	0	0	0	0.0009	0	0.0011	3.84e-05	1	26028	rs749705722	0.0002	0.0036	0.0002	0.0002	0.0014	0.0002	0.0002	0.0007	0.0005	9.572e-05	0	0	0	2.839e-05	0.0014	0.0002	0.0001	0.0002	9.985e-05	0.0007	9.115e-05	0.0001	0.0002	6.084e-05	4.941e-05	0.0001	8.651e-05	0.0002	0	6.599e-05	0	0	9.471e-05	0	5.92e-05	0	0	0.009	0.57480	D	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.185	0.30054	L	2.66	0.12575	T	-0.64	0.18670	N	0.083	0.08506	-0.9762	0.35860	T	0.018	0.07282	T	7	0.0496794	0.04591	T	0.013956	0.33748	T	0.016	0.02506	.	.	0.167679373172	0.16340	0.04229046124785458	0.04174	.	.	0.436500966549	0.30099	T	0.002984	0.02381	T	-0.351905	0.04607	T	-0.743263	0.03754	T	0.0251524341583151	0.01293	T	0.365463	0.08501	T	0.051199626	0.09367	0.056483008	0.10099	0.051199626	0.09366	0.056483008	0.10098	-8.87	0.71288	D	.	.	0.157	0.40889	B	.;.	.;.	1.313329	0.17168	13.00	0.9615705095658198	0.28887	0.00723	0.03043	N	AEFI	0.034503	0.04283	N	-0.8195499682895	0.12811	0.6269095	-0.971923213665518	0.10419	0.5246223	1.96066505655881E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.936	0.936	0.18613	-1.082000	0.03510	-4.792000	0.01984	-0.466000	0.05104	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.0:1.0:0.0	5.240	0.14787	818	0.41518	.;.	.	.	.	.	.	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	0.02381	145.98	486	chr7	100995392	.	G	T	145.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.881e+00;DP=3651;ExcessHet=0.0000;FS=5.569;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=47.14;MQRankSum=-8.475e+00;QD=0.25;ReadPosRankSum=1.93;SOR=1.341	GT:AD:DP:GQ:PL	0/1:518,72:590:99:160,0,14428	20	0	1	0
chr7	101003534	101003534	G	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G12971T:p.G4324V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	.	.	.	.	.	.	1.000	N	0	N	2.34	T	-0.955	T	0.017	T	0.063	-0.747	0.825	0.481	0.504	0.324	4.235	0.046	0.00723897455796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.282	0.15406	T	0.017	0.60337	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.55	0.14455	N	2.34	0.16351	T	-2.14	0.48523	N	0.055	0.02658	-0.9553	0.40042	T	0.017	0.07092	T	7	0.09206605	0.16180	T	0.007239	0.19198	T	0.046	0.12618	0.115	0.02372	0.168933306366	0.16529	0.011051379096115017	0.01066	.	.	0.487895846367	0.37147	T	0.050367	0.28575	T	-0.374652	0.03365	T	-0.775938	0.02579	T	0.0416628041998477	0.03993	T	0.373163	0.08852	T	0.050933532	0.09278	0.060177524	0.11416	0.050933532	0.09277	0.060177524	0.11416	-3.868	0.21824	T	.	.	0.247	0.48156	B	.;.	.;.	0.900870	0.12746	9.267	0.35988855596752289	0.02290	0.00535	0.02472	N	AEFBI	0.052739	0.09441	N	-0.957606093547116	0.09523	0.4510736	-1.12267682075177	0.07268	0.3529007	1.18500355944699E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.481	0.481	0.16020	0.198000	0.17018	-0.190000	0.11047	-0.783000	0.03311	0.007000	0.17678	0.000000	0.08366	0.001000	0.02609	0.0:0.4427:0.5572:1.0E-4	4.235	0.10073	818	0.41518	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1265.98	266	chr7	101003534	.	G	T	1265.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.682;DP=6059;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=38.61;MQRankSum=-4.782e+00;QD=1.33;ReadPosRankSum=-1.282e+00;SOR=0.671	GT:AD:DP:GQ:PL	0/1:803,150:953:99:1280,0,18748	20	0	1	0
chr7	101234346	101234346	A	G	exonic	CLDN15	.	nonsynonymous SNV	CLDN15:NM_014343:exon2:c.T314C:p.I105T	.	.	.	.	.	.	.	.	.	.	.	2208911	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.65	P	0.597	P	0.523	N	1.000	N	2.25	M	-2.36	D	0.163	D	0.753	D	0.534	3.802	19.30	5.35	2.020	3.778	13.299	0.552	0.140807215605	7.7e-05	0.000199681	9.971e-05	0	0.0002	0.0005	0	4.538e-05	0	0.0002	9.06e-05	14	154602	rs146377590	3.356e-05	3.352e-05	3.407e-05	3.303e-05	0.0003	2.569e-05	2.314e-05	0.0002	0.0001	0	0.0001	0	0.0003	0	0.0002	1.169e-05	4.969e-05	0.0002	5.263e-05	5.253e-05	2.574e-05	8.075e-05	0.0002	2.56e-05	1.832e-05	2.262e-05	9.08e-06	4.824e-05	0	0.0001	0	0.0002	9.436e-05	0	1.471e-05	0	0.0002	0.003	0.68238	D	0.006	0.70582	D	0.65	0.40644	P	0.597	0.50647	P	0.522918	0.11721	N	0.786532	1	0.08975	N	2.035	0.55589	M	-2.36	0.88143	D	-3.83	0.72120	D	0.602	0.62018	0.163	0.85274	D	0.753	0.91578	D	10	0.19116583	0.34791	T	0.140807	0.82325	D	0.552	0.81485	.	.	0.916389879554	0.91555	0.7943608192256201	0.79389	0.844967140893	0.68244	0.327381849289	0.14539	T	0.818102	0.95523	D	-0.125132	0.32286	T	-0.0975096	0.63590	T	0.226388797163963	0.21778	T	0.710329	0.34232	T	0.3431701	0.56531	0.29755294	0.55789	0.3431701	0.56531	0.29755294	0.55788	-7.499	0.57603	T	.	.	0.167	0.36850	B	.;.;.	.;.;.	3.950593	0.57877	23.9	0.99538446132490432	0.70336	0.32867	0.24690	N	AEFBCI	0.125003	0.24132	N	0.0044370045594232	0.42057	2.52692	-0.0909705041406327	0.35763	2.072897	0.999929062038473	0.46280	0.634777	0.41761	0	0.643519	0.57511	0	0.459711	0.06710	0	0.636168	0.56350	0	.	.	5.35	5.35	0.76297	3.883000	0.55880	11.184000	0.88420	0.751000	0.87719	0.104000	0.22875	0.997000	0.33255	0.344000	0.25523	1.0:0.0:0.0:0.0	13.299	0.59751	882	0.29131	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	926.98	33	chr7	101234346	.	A	G	926.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.161e+00;DP=845;ExcessHet=0.0000;FS=2.832;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=-9.940e-01;SOR=0.402	GT:AD:DP:GQ:PL	0/1:44,44:88:99:941,0,1025	20	0	1	0
chr7	102348406	102348406	G	A	exonic	SPDYE6	.	nonsynonymous SNV	SPDYE6:NM_001146210:exon6:c.C1027T:p.R343C,	.	.	641	871	4	0	6	10	0.00229095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.929e-05	6.645e-05	3.177e-05	8.585e-05	0.0003	4.632e-05	4.23e-05	0.0002	0.0002	3.981e-05	0.0001	0.0004	3.115e-05	0	0.0003	1.446e-05	0.0001	0.0003	0	3.967e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.001	0.83351	D	1.0	0.90584	D	0.984	0.76113	D	.	.	.	.	.	.	.	0.455	0.12820	N	.	.	.	.	.	.	0.122	0.11340	.	.	.	.	.	.	.	0.19610131	0.35488	T	.	.	.	.	.	.	.	0.222439326576	0.21863	0.08390564604976637	0.08324	.	.	0.502229452133	0.39139	T	0.025994	0.19327	T	-0.107236	0.35225	T	-0.391814	0.34340	T	.	.	.	0.529847	0.17555	T	0.07272767	0.16201	0.11027462	0.26587	0.07272767	0.16200	0.11027462	0.26586	-5.167	0.38604	T	.	.	0.165	0.36475	B	.	.	1.676779	0.21372	15.17	0.86101389409799867	0.16314	0.00099	0.00643	N	AEFI	.	.	.	.	.	.	.	.	.	6.17615610084428E-5	0.04366	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.101684	0.03063	0	0.0489367	0.08445	.	.	.	-0.839000	0.04475	.	.	-0.787000	0.03278	0.000000	0.06391	.	.	0.000000	0.00833	.	.	.	759	0.50631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3267.33	12	chr7	102348406	.	G	A	3267.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.86;DP=601;ExcessHet=0.0000;FS=0.935;InbreedingCoeff=0.2454;MLEAC=1;MLEAF=0.026;MQ=41.04;MQRankSum=-2.585e+00;QD=12.06;ReadPosRankSum=0.964;SOR=0.763	GT:AD:DP:GQ:PL	0/1:134,137:271:99:3280,0,2829	18	0	1	2
chr7	102934282	102934282	G	C	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.G369C:p.E123D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.005	N	1.000	D	-0.515	N	0.26	T	-0.990	T	0.059	T	0.045	-0.292	2.603	3.61	1.478	0.025	7.418	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	849.76	35	chr7	102934282	.	G	C	849.76	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-5.273e+00;DP=2518;ExcessHet=1.7912;FS=177.018;InbreedingCoeff=-0.1745;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=0.346;SOR=11.212	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,30:169:99:0|1:102934282_G_C:114,0,4756:102934282	15	0	6	0
chr7	102934283	102934283	G	C	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.G370C:p.A124P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.58	M	0.09	T	-0.079	T	0.414	T	0.931	4.705	26.1	4.65	1.469	7.967	14.775	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	1847.14	124	chr7	102934283	.	G	C	1847.14	.	AC=10;AF=0.250;AN=40;BaseQRankSum=-4.298e+00;DP=2977;ExcessHet=6.1002;FS=207.422;InbreedingCoeff=-0.3468;MLEAC=11;MLEAF=0.275;MQ=60.00;MQRankSum=0.00;QD=1.17;ReadPosRankSum=0.257;SOR=12.042	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,30:169:99:0|1:102934282_G_C:114,0,4756:102934282	10	0	10	1
chr7	108479241	108479241	A	G	exonic	PNPLA8	.	nonsynonymous SNV	PNPLA8:NM_001256008:exon9:c.T2017C:p.Y673H	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.001	B	0.006	B	0.437	N	1.000	N	0.665	N	-1.16	T	-0.938	T	0.206	T	0.12	0.075	4.407	-4.62	-0.495	1.027	9.741	0.176	0.0109233350447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.342	0.12632	T	0.462	0.12740	T	0.001	0.07471	B	0.006	0.12133	B	0.436884	0.12677	N	0.734180	1	0.08975	N	1.01	0.25309	L	-1.16	0.78082	T	-0.5	0.15782	N	0.292	0.33687	-0.9383	0.42885	T	0.206	0.56458	T	10	0.06821743	0.09616	T	0.010923	0.28000	T	0.176	0.44373	0.488	0.57257	0.355865052028	0.35192	0.5755578790656948	0.57484	0.103210801654	0.11672	0.353793740273	0.18479	T	0.121822	0.44506	T	-0.146893	0.28798	T	-0.448778	0.27832	T	0.0662964805960655	0.08121	T	0.716128	0.37818	T	0.027391626	0.01923	0.04164508	0.04779	0.027391626	0.01923	0.04164508	0.04778	-2.764	0.18074	T	.	.	0.103	0.18622	B	.;.;.;.;.;.	.;.;.;.;.;.	1.278870	0.16785	12.76	0.42346463604481188	0.03115	0.27805	0.23379	N	AEFBI	0.059018	0.11114	N	-1.17969117384478	0.05307	0.2416424	-1.19538105798408	0.05986	0.286827	9.7987050432322E-4	0.08079	0.706298	0.61202	0	0.709663	0.81188	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.6	-4.62	0.03129	1.028000	0.29734	1.522000	0.27099	-0.121000	0.13915	0.578000	0.27570	0.068000	0.22166	0.868000	0.41282	0.432:0.1006:0.4674:0.0	9.741	0.39585	804	0.43891	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	835.98	34	chr7	108479241	.	A	G	835.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.040e-01;DP=808;ExcessHet=0.0000;FS=1.653;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.28;ReadPosRankSum=-1.249e+00;SOR=0.511	GT:AD:DP:GQ:PL	0/1:62,39:101:99:850,0,1616	20	0	1	0
chr7	113877833	113877833	T	C	exonic	PPP1R3A	.	nonsynonymous SNV	PPP1R3A:NM_002711:exon4:c.A3259G:p.I1087V,	Insulin resistance, severe, digenic, Autosomal dominant	.	2	1517	3	0	0	3	0.000987817	.	.	380218	Monogenic_diabetes	MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.535	N	1.000	N	-1.1	N	2.59	T	-0.948	T	0.002	T	0.011	-1.885	0.008	1.73	0.407	-0.138	6.212	0.027	.	0.0078	0.00878594	0.0024	0.0271	0.0011	0	0	1.506e-05	0.0011	0	0.0023609	365	154602	rs77456357	0.0007	0.0007	0.0008	0.0006	0.0256	0.0007	0.0007	0.0242	0.0236	0.0256	0.0016	0	0	5.624e-05	0.0017	1.263e-05	0.0017	5.805e-05	0.0074	0.0074	0.0078	0.0069	0.0249	0.0070	0.0069	0.0236	0.0231	0.0249	0	0.0047	0	0	0	0.0034	2.943e-05	0.0047	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.535134	0.11595	N	0.777423	1	0.08975	N	-1.655	0.00384	N	2.59	0.13317	T	0.24	0.04533	N	0.036	0.01068	-0.9484	0.41245	T	0.002	0.00556	T	10	0.0032697022	0.00056	T	.	.	.	0.027	0.05988	.	.	0.311691414656	0.30774	0.14875443885196615	0.14797	0.03888108303	0.04135	0.366930782795	0.20390	T	0.074485	0.34948	T	-0.772212	0.00012	T	-0.863082	0.00810	T	0.00236553781470215	0.00024	T	0.150785	0.01278	T	0.024582654	0.01305	0.027790096	0.00959	0.025673524	0.01531	0.031080477	0.01647	-2.612	0.06595	T	.	.	0.068	0.02927	B	.	.	-0.049798	0.03950	0.883	0.32219653544029903	0.01856	0.06046	0.12015	N	AEI	0.040097	0.05916	N	-1.12260309960136	0.06242	0.2868412	-0.871656918258421	0.12768	0.6586735	1.61980774038525E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.85	1.73	0.23565	-0.122000	0.10602	-0.165000	0.11284	-0.806000	0.03109	0.882000	0.31029	0.005000	0.19230	0.880000	0.42090	0.0947:0.5395:0.2446:0.1212	6.212	0.19846	803	0.44167	.	.	.	.	.	.	Likely benign	0	0	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	0.04762	3103.11	37	chr7	113877833	.	T	C	3103.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.872;DP=946;ExcessHet=0.1072;FS=2.006;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=0.668;SOR=0.831	GT:AD:DP:GQ:PL	0/1:82,62:144:99:1484,0,2042	19	0	2	0
chr7	113878048	113878048	T	C	exonic	PPP1R3A	.	nonsynonymous SNV	PPP1R3A:NM_002711:exon4:c.A3044G:p.N1015S,	Insulin resistance, severe, digenic, Autosomal dominant	.	2	1516	4	0	0	4	0.00131752	.	.	380219	Monogenic_diabetes	MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.000	N	1.000	N	-1.575	N	2.96	T	-0.929	T	0.001	T	0.008	-2.616	0	3.46	0.150	0.191	7.645	0.207	.	0.0078	0.00878594	0.0024	0.0272	0.0010	0	0	1.501e-05	0.0011	0	0.0023674	366	154602	rs149701175	0.0007	0.0007	0.0008	0.0006	0.0258	0.0007	0.0007	0.0243	0.0238	0.0258	0.0016	0	0	0	0.0017	1.169e-05	0.0017	4.638e-05	0.0074	0.0074	0.0078	0.0069	0.0249	0.0070	0.0069	0.0236	0.0231	0.0249	0	0.0047	0	0	0	0.0034	2.944e-05	0.0047	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000015	0.62929	N	0.072255	0.999991	0.08975	N	-1.08	0.01032	N	2.96	0.09542	T	1.0	0.01408	N	0.053	0.02462	-0.9287	0.44328	T	0.001	0.00408	T	10	0.0026070774	0.00040	T	.	.	.	0.207	0.49555	.	.	0.167679373172	0.16340	0.05992063532502244	0.05932	0.0376571858437	0.03997	0.248303443193	0.03591	T	0.092463	0.39010	T	-0.777386	0.00011	T	-0.869841	0.00744	T	0.00382190171224252	0.00040	T	0.244176	0.03564	T	0.030320479	0.02674	0.04421515	0.05680	0.03207741	0.03164	0.041361663	0.04684	-2.561	0.06212	T	.	.	0.048	0.00092	B	.	.	-0.054144	0.03923	0.868	0.098886851743402768	0.00111	0.04283	0.09824	N	AEFI	0.046324	0.07681	N	-1.2716290203423	0.04021	0.1807302	-1.08428062319663	0.08009	0.391976	9.67714788612843E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.71	3.46	0.38718	0.214000	0.17331	0.517000	0.19131	-0.171000	0.11205	0.892000	0.31242	0.071000	0.22219	0.388000	0.26514	0.0:0.7004:0.1275:0.1721	7.645	0.27484	803	0.44167	.	.	.	.	.	.	Likely benign	0	0	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	0.04762	3320.11	37	chr7	113878048	.	T	C	3320.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.74;DP=964;ExcessHet=0.1072;FS=1.398;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=1.27;SOR=0.711	GT:AD:DP:GQ:PL	0/1:81,64:145:99:1624,0,2006	19	0	2	0
chr7	113879378	113879378	T	C	exonic	PPP1R3A	.	nonsynonymous SNV	PPP1R3A:NM_002711:exon4:c.A1714G:p.I572V,	Insulin resistance, severe, digenic, Autosomal dominant	.	1	1518	3	0	0	3	0.000987167	.	.	380224	Monogenic_diabetes	MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.82	T	0.001	B	0.0	B	0.819	N	1.000	N	0.92	L	2.43	T	-0.963	T	0.004	T	0.008	1.075	9.387	-2.49	-0.675	-3.155	7.668	0.011	.	0.0078	0.00878594	0.0024	0.0269	0.0010	0	0	1.5e-05	0.0011	0	0.0023674	366	154602	rs35398707	0.0007	0.0007	0.0008	0.0006	0.0258	0.0007	0.0007	0.0244	0.0238	0.0258	0.0016	0	0	0	0.0017	9.894e-06	0.0017	4.637e-05	0.0074	0.0074	0.0078	0.0069	0.0250	0.0070	0.0069	0.0237	0.0232	0.0250	0	0.0047	0	0	0	0.0034	2.942e-05	0.0047	0.0004	0.263	0.16412	T	1.0	0.01155	T	0.001	0.07471	B	0.0	0.01387	B	0.819406	0.06875	N	1.082130	1	0.08975	N	0.665	0.16292	N	2.43	0.15261	T	-0.19	0.09965	N	0.037	0.01135	-0.9625	0.38704	T	0.004	0.01470	T	10	0.004051864	0.00079	T	.	.	.	0.011	0.01250	.	.	0.248417906384	0.24464	0.06968805825191646	0.06906	0.0392707081653	0.04187	0.204850181937	0.00611	T	0.067599	0.33242	T	-0.791876	0.00009	T	-0.891328	0.00565	T	0.00747437426451947	0.00086	T	0.288071	0.05188	T	0.027517054	0.01954	0.03079616	0.01580	0.026632449	0.01745	0.028771527	0.01144	-3.05	0.10730	T	.	.	0.073	0.04599	B	.	.	-1.775577	0.00166	0.002	0.27719203068987647	0.01389	0.01439	0.04834	N	AEFBI	0.071112	0.14143	N	-1.65214074451169	0.01026	0.04449173	-1.66048668601567	0.01322	0.05968186	2.58551790538712E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.95	-2.49	0.06034	-2.239000	0.01281	-6.418000	0.01404	-0.996000	0.01829	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4377:0.1214:0.4409	7.668	0.27611	802	0.44336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4529.11	124	chr7	113879378	.	T	C	4529.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.95;DP=2936;ExcessHet=0.1072;FS=9.329;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.07;ReadPosRankSum=1.15;SOR=1.112	GT:AD:DP:GQ:PL	0/1:72,79:151:99:2249,0,1805	19	0	2	0
chr7	118224974	118224974	G	T	exonic	ANKRD7	.	nonsynonymous SNV	ANKRD7:NM_019644:exon1:c.G144T:p.K48N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.996	D	0.941	D	0.163	U	1.000	N	0.705	N	-0.19	T	-0.878	T	0.124	T	0.143	2.235	13.43	0.276	0.174	1.082	8.003	0.163	.	0.0099	0.0091853	0.0031	0.0372	0.0003	0	0	3.014e-05	0.0022	0	0.002846	440	154602	rs10487391	0.0009	0.0009	0.0011	0.0008	0.0339	0.0009	0.0009	0.0323	0.0316	0.0339	0.0009	0	0	0	0.0019	3.237e-05	0.0018	4.638e-05	0.0088	0.0089	0.0089	0.0087	0.0314	0.0085	0.0083	0.0300	0.0294	0.0314	0	0.0016	0	0	0	0	0.0001	0.0047	0	0.028	0.46129	D	0.301	0.42794	T	0.996	0.68779	D	0.941	0.67658	D	0.162631	0.17616	U	0.406633	1	0.08975	N	0.225	0.09600	N	-0.19	0.70480	T	-2.25	0.50337	N	0.203	0.22486	-0.8778	0.49935	T	0.124	0.42862	T	10	0.0057581663	0.00128	T	.	.	.	0.163	0.42028	0.444	0.50139	0.744860964332	0.74256	0.11228979996277964	0.11157	0.996463915584	0.74250	0.439471155405	0.30505	T	0.03873	0.24941	T	-0.49477	0.00612	T	-0.457717	0.26849	T	0.0395596951311502	0.03612	T	0.60444	0.23930	T	0.115668386	0.27292	0.10859317	0.26160	0.115668386	0.27292	0.10859317	0.26160	-6.137	0.47411	T	.	.	0.430	0.67165	A	.;.;.	.;.;.	2.702985	0.35308	19.86	0.99214334972468321	0.55685	0.42971	0.26995	N	AEFDBI	0.072552	0.14482	N	-0.407981490714165	0.25190	1.365541	-0.558232327810135	0.20588	1.109868	3.63274591623735E-4	0.06707	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.13	0.276	0.14916	1.380000	0.33958	3.187000	0.36685	-0.226000	0.07819	0.987000	0.36337	1.000000	0.68203	0.027000	0.12703	0.3837:0.0:0.6163:0.0	8.003	0.29471	878	0.29785	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	0.02381	1952.98	34	chr7	118224974	.	G	T	1952.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.594e+00;DP=856;ExcessHet=0.0000;FS=5.663;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.13;ReadPosRankSum=1.01;SOR=0.898	GT:AD:DP:GQ:PL	0/1:74,87:161:99:1967,0,1716	20	0	1	0
chr7	124032406	124032408	GCT	-	exonic	TMEM229A	.	nonframeshift deletion	TMEM229A:NM_001136002:exon1:c.596_598del:p.Q200del,	.	.	414	602	321	84	101	590	0.288836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	8600.32	36	chr7	124032402	.	CGCTGCT	C,CGCT	8600.32	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-6.570e-01;DP=1005;ExcessHet=0.9430;FS=4.707;InbreedingCoeff=0.0101;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=23.50;ReadPosRankSum=0.410;SOR=0.923	GT:AD:DP:GQ:PL	0/1:21,29,0:50:99:1147,0,789,1210,877,2087	13	1	6	0
chr7	128030363	128030363	T	C	exonic	LRRC4	.	nonsynonymous SNV	LRRC4:NM_022143:exon2:c.A278G:p.D93G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.054	B	0.157	B	0.000	D	1.000	D	-0.21	N	0.49	T	-0.340	T	0.468	T	0.783	2.321	13.72	4.66	1.923	7.864	12.097	0.531	0.0937506173799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.39575	T	0.065	0.44702	T	0.054	0.22658	B	0.157	0.34536	B	0.000031	0.55875	D	0.069550	1	0.81001	D	-0.015	0.05111	N	-2.81	0.91134	D	-4.09	0.74821	D	0.196	0.21580	-0.3401	0.73841	T	0.468	0.79481	T	10	0.6778163	0.71097	D	0.093751	0.76129	D	0.531	0.80247	0.543	0.65589	0.898307074394	0.89729	0.6866054766357462	0.68600	0.820909731651	0.67165	0.783683419228	0.79484	T	0.299864	0.67238	T	0.248528	0.78462	D	0.119217	0.78184	D	0.959188044071198	0.65467	D	0.89911	0.64631	D	0.68281215	0.77121	0.44825804	0.67877	0.68281215	0.77122	0.44825804	0.67877	-6.092	0.47043	T	.	.	0.403	0.59727	A	.;.;.	.;.;.	3.796614	0.54681	23.5	0.98372901186755968	0.40770	0.94016	0.59860	D	AEFDBCI	0.932249	0.92231	D	-0.129603562832021	0.36106	2.082697	0.0840762546134725	0.43747	2.670175	0.99999999998227	0.74766	0.789315	0.99827	0	0.519925	0.08708	0	0.768056	0.98339	0	0.56751	0.32155	0	.	.	4.66	4.66	0.57857	6.234000	0.72276	7.947000	0.75742	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	12.097	0.53057	704	0.57414	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1852.98	34	chr7	128030363	.	T	C	1852.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=881;ExcessHet=0.0000;FS=0.705;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.25;ReadPosRankSum=0.109;SOR=0.597	GT:AD:DP:GQ:PL	0/1:48,66:114:99:1867,0,1265	20	0	1	0
chr7	128957286	128957286	G	A	exonic	TNPO3	.	nonsynonymous SNV	TNPO3:NM_001191028:exon21:c.C2549T:p.A850V	Muscular dystrophy, limb-girdle, type 1F, Autosomal dominant	.	434	1084	4	0	0	4	0.00184162	.	.	266683	not_provided|Autosomal_dominant_limb-girdle_muscular_dystrophy_type_1F|TNPO3-related_disorder	MedGen:C3661900|MONDO:MONDO:0012034,MedGen:C1842062,OMIM:608423,Orphanet:55595|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.75	T	0.999	D	0.942	D	0.000	D	1.000	D	1.545	L	.	.	-0.776	T	0.191	T	0.606	3.920	19.94	4.03	0.816	9.028	11.127	0.214	0.0108967158709	0.0002	0.000399361	0.0005	0.0003	0.0012	0	0	0.0005	0.0033	0.0005	0.0004916	76	154602	rs61756249	0.0004	0.0004	0.0004	0.0004	0.0118	0.0003	0.0003	0.0095	0.0087	8.962e-05	0.0017	0.0011	0	0	0.0118	0.0002	0.0009	0.0005	0.0007	0.0007	0.0005	0.0008	0.0032	0.0006	0.0005	0.0025	0.0022	0.0001	0	0.0032	0.0006	0	0	0.0170	0.0004	0.0033	0.0012	0.015	0.56456	D	0.032	0.54159	D	0.861	0.77913	P	0.275	0.67772	B	0.000000	0.84330	D	0.000000	0.999946	0.51968	D	2.05	0.56469	M	.	.	.	-2.11	0.48020	N	0.807	0.80278	-0.7760	0.56526	T	0.191	0.54315	T	9	0.057059377	0.06493	T	0.010897	0.27957	T	0.214	0.50650	.	.	0.705095963704	0.70253	0.6612150767598838	0.66058	0.936315210153	0.72031	0.859403133392	0.91023	D	0.090954	0.38695	T	-0.211463	0.19174	T	-0.089759	0.64180	T	0.0600704327191556	0.07180	T	0.941406	0.78138	D	0.47150517	0.65383	0.22902928	0.47963	0.45484588	0.64348	0.24757326	0.50289	-6.776	0.52380	T	.	.	0.423	0.67952	A	.;.;.;.;.	.;.;.;.;.	4.327387	0.66282	24.9	0.99788819188506084	0.87484	0.96986	0.72034	D	AEFBCI	0.789753	0.71885	D	0.342585578579552	0.58348	4.006607	0.392150897739389	0.61080	4.303278	0.999663631008767	0.41534	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.83	4.03	0.46115	9.207000	0.94192	9.859000	0.82043	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1387:0.717:0.1443	11.127	0.47547	503	0.75780	.;.;.;.;.	.	.	.	.	.	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	0.04762	1703.11	33	chr7	128957286	.	G	A	1703.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-7.770e-01;DP=811;ExcessHet=0.1072;FS=8.119;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.78;ReadPosRankSum=1.08;SOR=0.973	GT:AD:DP:GQ:PL	0/1:39,28:67:99:676,0,1028	19	0	2	0
chr7	131556276	131556276	-	GGCGAC	exonic	PODXL	.	nonframeshift insertion	PODXL:NM_001018111:exon1:c.83_84insGTCGCC:p.S31_Q32insPS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	24221.88	24	chr7	131556270	.	GGGCGAC	G,GGGCGACGGCGAC	24221.88	.	AC=15,13;AF=0.357,0.310;AN=42;BaseQRankSum=0.430;DP=932;ExcessHet=0.0019;FS=0.000;InbreedingCoeff=0.5714;MLEAC=15,13;MLEAF=0.357,0.310;MQ=60.00;MQRankSum=0.00;QD=33.09;ReadPosRankSum=0.348;SOR=0.686	GT:AD:DP:GQ:PL	2/2:0,0,50:50:99:2199,2200,2200,150,150,0	5	3	3	0
chr7	138627446	138627446	A	C	exonic	SVOPL	.	nonsynonymous SNV	SVOPL:NM_174959:exon8:c.T629G:p.I210R	.	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.984	D	0.000	D	1.000	D	2.25	M	0.31	T	-0.207	T	0.392	T	0.879	3.918	19.93	5.81	2.225	6.414	16.171	0.548	0.0616550646192	.	.	0.0002	0	0	0	0	0	0	0.0011	0.0001164	18	154602	rs773196860	0.0001	0.0001	5.176e-05	0.0002	0.0016	9.271e-05	8.735e-05	0.0013	0.0013	0	0	0	0	0	0.0003	1.44e-05	6.627e-05	0.0016	8.535e-05	8.531e-05	5.139e-05	0.0001	0.0019	4.953e-05	3.96e-05	0.0010	0.0007	0	0	6.545e-05	0	0.0002	0	0	2.94e-05	0	0.0019	0.002	0.78490	D	0.004	0.74150	D	0.992	0.77913	D	0.877	0.76113	P	0.000007	0.62929	D	0.145042	1	0.81001	D	2.58	0.75369	M	0.31	0.58613	T	-5.4	0.85617	D	0.789	0.78546	-0.2069	0.77494	T	0.392	0.74546	T	10	0.6112453	0.67456	D	0.061655	0.68401	D	0.548	0.81252	0.849	0.95143	0.785919398433	0.78393	0.9753046930886731	0.97520	0.249200713937	0.27491	0.751487135887	0.74665	T	0.285735	0.65852	T	-0.0198592	0.48875	T	0.163319	0.81009	D	0.284394315176869	0.24356	T	0.837516	0.51030	T	0.9341078	0.94649	0.94325274	0.97978	0.9341078	0.94649	0.94325274	0.97979	-14.592	0.95175	D	.	.	0.964	0.88872	P	.;.;.;.	.;.;.;.	5.076866	0.84710	28.4	0.99068887966115082	0.51668	0.96846	0.71256	D	AEBIJ	0.796144	0.72336	D	0.759471516088397	0.83520	8.038996	0.747260082829269	0.85951	8.736555	0.99623381125844	0.34611	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.81	5.81	0.92413	6.424000	0.73282	11.176000	0.88137	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	1.0:0.0:0.0:0.0	16.171	0.81627	910	0.22284	.;Major facilitator superfamily domain|Major facilitator superfamily domain;.;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1161.98	45	chr7	138627446	.	A	C	1161.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.674;DP=873;ExcessHet=0.0000;FS=1.640;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=-1.100e-02;SOR=0.509	GT:AD:DP:GQ:PL	0/1:47,50:97:99:1176,0,1065	20	0	1	0
chr7	139055234	139055234	A	C	exonic	ZC3HAV1	.	nonsynonymous SNV	ZC3HAV1:NM_001363491:exon10:c.T2524G:p.F842V	.	.	423	1094	5	0	0	5	0.00227998	.	.	2340439	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.3	T	0.0	B	0.0	B	0.008	N	1.000	N	1.1	L	3.35	T	-0.989	T	0.012	T	0.095	0.047	4.260	-7.36	-2.574	-3.378	1.051	0.021	0.000885194959013	0.0002	.	0.0002	0	8.637e-05	0	0	5.995e-05	0.0011	0.0012	0.0001746	27	154602	rs141845165	9.584e-05	9.577e-05	5.448e-05	0.0001	0.0013	8.248e-05	7.788e-05	0.0011	0.0010	0	4.481e-05	0	0	0	0.0012	1.26e-05	8.284e-05	0.0013	8.532e-05	8.529e-05	7.708e-05	9.393e-05	0.0008	4.952e-05	3.958e-05	0.0003	0.0002	0	0	6.536e-05	0	0	0	0	0.0001	0.0005	0.0008	0.54	0.06824	T	0.645	0.07316	T	0.0	0.02946	B	0.0	0.01387	B	0.007986	0.01189	N	2.898740	1	0.08975	N	-0.255	0.03828	N	3.35	0.06214	T	0.22	0.04776	N	0.068	0.05929	-0.9888	0.32903	T	0.012	0.04747	T	10	0.008771509	0.00199	T	8.85E-4	0.00800	T	0.021	0.04004	.	.	0.0138822411134	0.00435	0.4679024591018867	0.46709	0.369081398384	0.38440	0.224033355713	0.01556	T	0.001456	0.06047	T	-0.682613	0.00046	T	-0.793836	0.02061	T	0.0177867080545873	0.00507	T	0.19528	0.02139	T	0.024442323	0.01275	0.018382782	0.00054	0.024442323	0.01275	0.018382782	0.00054	-3.152	0.11903	T	.	.	0.053	0.00405	B	.;.	.;.	-1.176241	0.00555	0.013	0.43790276752464047	0.03321	0.00601	0.02681	N	AEFBI	0.016017	0.00336	N	-1.6432200875801	0.01064	0.04616801	-1.79691948853203	0.00769	0.03429759	0.99998933332426	0.51787	0.744818	0.98587	0	0.724815	0.89359	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	3.68	-7.36	0.01270	-3.625000	0.00460	-2.737000	0.03414	-0.164000	0.11507	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.3774:0.1662:0.3213:0.1351	1.051	0.01481	443	0.79878	Poly(ADP-ribose) polymerase, catalytic domain;Poly(ADP-ribose) polymerase, catalytic domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	556.98	36	chr7	139055234	.	A	C	556.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.490e+00;DP=728;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=0.784;SOR=0.693	GT:AD:DP:GQ:PL	0/1:24,24:48:99:571,0,687	20	0	1	0
chr7	139284397	139284397	T	G	exonic	UBN2	.	nonsynonymous SNV	UBN2:NM_173569:exon15:c.T3492G:p.S1164R,	.	.	423	1091	8	0	0	8	0.00365297	.	.	2334601	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	0.996	D	0.946	D	0.000	D	0.821	N	0.69	N	1.29	T	-1.008	T	0.111	T	0.616	3.015	16.06	3.28	1.075	2.216	9.553	0.203	0.0116079687896	.	.	0.0003	0	8.649e-05	0	0	0.0002	0.0022	0.0014	0.0002587	40	154602	rs754304809	0.0002	0.0002	0.0001	0.0003	0.0019	0.0002	0.0002	0.0013	0.0012	0	0.0001	0	0	0	0.0019	9.802e-05	0.0004	0.0015	6.574e-05	6.564e-05	5.144e-05	8.07e-05	0.0010	3.518e-05	2.617e-05	0.0004	0.0003	4.822e-05	0	0	0	0	0	0.0034	1.471e-05	0.0005	0.0010	0.002	0.72154	D	0.087	0.40747	T	0.996	0.68779	D	0.946	0.68276	D	0.000054	0.53742	D	0.171825	0.821154	0.28880	N	0.805	0.20218	L	1.29	0.35775	T	-0.76	0.21215	N	0.55	0.57604	-1.0084	0.27416	T	0.111	0.39770	T	10	0.07338768	0.11080	T	0.011608	0.29407	T	0.203	0.48915	0.404	0.43573	0.043077524339	0.03247	0.7046723164447111	0.70409	0.414768115715	0.42146	0.465029537678	0.33999	T	0.049373	0.28287	T	-0.330925	0.06041	T	-0.283505	0.46444	T	0.0983813971646895	0.12178	T	0.873813	0.58316	D	0.20156772	0.42172	0.2579855	0.51525	0.20156772	0.42172	0.2579855	0.51524	-6.521	0.50449	T	.	.	0.737	0.74497	P	.	.	3.813092	0.55007	23.6	0.99797193634961168	0.88194	0.89387	0.49821	D	AEFDBHCI	0.257980	0.37661	N	0.297922128391923	0.56044	3.768569	0.309042408288059	0.56069	3.769958	0.999989215113462	0.51787	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.64	3.28	0.36691	2.200000	0.42358	4.219000	0.42581	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1421:0.0:0.8579	9.553	0.38486	814	0.42100	.	.	.	.	.	.	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	0.02381	2294.98	40	chr7	139284397	.	T	G	2294.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.63;DP=849;ExcessHet=0.0000;FS=1.336;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.51;ReadPosRankSum=-9.260e-01;SOR=0.724	GT:AD:DP:GQ:PL	0/1:66,73:139:99:2309,0,1607	20	0	1	0
chr7	139953397	139953397	C	A	exonic	TBXAS1	.	nonsynonymous SNV	TBXAS1:NM_001366537:exon5:c.C297A:p.D99E	Ghosal hematodiaphyseal syndrome, Autosomal recessive	.	1	1470	48	2	1	53	0.0173797	.	.	710823	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001682	26	154602	rs5768	0.0068	0.0068	0.0067	0.0069	0.0140	0.0067	0.0066	0.0116	0.0107	0.0009	0.0058	0.0243	0	0.0020	0.0140	0.0071	0.0078	0.0053	0.0048	0.0048	0.0047	0.0048	0.0065	0.0045	0.0044	0.0060	0.0058	0.0011	0.0022	0.0052	0.0265	0.0006	0.0020	0.0136	0.0065	0.0099	0.0035	.	.	.	0.185	0.28958	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.15046	.	.	.	.	.	.	.	0.0074077547	0.00168	T	.	.	.	.	.	.	.	.	.	0.18858199189916144	0.18776	.	.	.	.	.	0.028943	0.20850	T	.	.	.	.	.	.	.	.	.	0.424958	0.12501	T	.	.	.	.	.	.	.	.	-3.967	0.23308	T	.	.	0.193	0.44694	B	.;.;.;.;.;.	.;.;.;.;.;.	1.396628	0.18099	13.55	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.341000	0.07858	0.189000	0.15722	0.596000	0.33519	0.003000	0.16062	0.004000	0.18990	0.997000	0.79791	.	.	.	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	4514.68	34	chr7	139953397	.	C	A	4514.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.480e-01;DP=991;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=-9.940e-01;SOR=0.707	GT:AD:DP:GQ:PL	0/1:64,55:119:99:1314,0,1624	18	0	3	0
chr7	142864297	142864299	CCT	-	exonic	EPHB6	.	nonframeshift deletion	EPHB6:NM_004445:exon7:c.497_499del:p.S177del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0090	.	0.0030	0.0009	0.0027	0.0001	0.0030	0.0040	0.0023	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	60299.65	90	chr7	142864293	.	CCCTCCT	CCCT,C,CCCTCCTCCT	60299.65	.	AC=37,1,2;AF=0.881,0.024,0.048;AN=42;BaseQRankSum=0.649;DP=1834;ExcessHet=0.1072;FS=1.273;InbreedingCoeff=-0.0500;MLEAC=37,1,2;MLEAF=0.881,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=30.29;ReadPosRankSum=0.118;SOR=1.001	GT:AD:DP:GQ:PL	1/1:0,80,0,0:80:99:3471,241,0,3471,241,3471,3471,241,3471,3471	0	16	2	0
chr7	142864299	142864299	-	CCT	exonic	EPHB6	.	nonframeshift insertion	EPHB6:NM_004445:exon7:c.499_500insCCT:p.S177_A178insS,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	60299.65	90	chr7	142864293	.	CCCTCCT	CCCT,C,CCCTCCTCCT	60299.65	.	AC=37,1,2;AF=0.881,0.024,0.048;AN=42;BaseQRankSum=0.649;DP=1834;ExcessHet=0.1072;FS=1.273;InbreedingCoeff=-0.0500;MLEAC=37,1,2;MLEAF=0.881,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=30.29;ReadPosRankSum=0.118;SOR=1.001	GT:AD:DP:GQ:PL	1/1:0,80,0,0:80:99:3471,241,0,3471,241,3471,3471,241,3471,3471	0	16	2	0
chr7	143756691	143756691	T	A	exonic	CTAGE6	.	nonsynonymous SNV	CTAGE6:NM_178561:exon1:c.A968T:p.K323M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00568520865731	.	.	0.0001	0	0	0	0	0	0	0.0004	3.84e-05	1	26028	rs751523423	2.108e-05	2.194e-05	1.394e-05	2.834e-05	0.0002	1.495e-05	1.298e-05	0.0001	0.0001	0	0	0	0	0	0.0002	9.149e-06	1.701e-05	0.0002	6.757e-06	1.319e-05	0	1.386e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.009	0.66756	D	0.935	0.52277	P	0.793	0.57829	P	.	.	.	.	.	.	.	2.87	0.83286	M	3.1	0.08283	T	.	.	.	0.209	0.23253	.	.	.	.	.	.	.	0.19384837	0.35171	T	0.005685	0.14712	T	.	.	.	.	0.0954503805726	0.09146	0.3398061969269496	0.33893	.	.	0.615320801735	0.55066	T	0.131414	0.46090	T	-0.237533	0.15665	T	-0.385985	0.35022	T	.	.	.	.	.	.	0.18260272	0.39487	0.20498052	0.44646	0.18260272	0.39487	0.20498052	0.44645	-9.999	0.73906	D	.	.	0.218	0.44834	B	.	.	2.710827	0.35433	19.90	0.66342794052760401	0.08031	0.15466	0.18925	N	AEFI	0.043717	0.06945	N	.	.	.	.	.	.	1.10342127953329E-6	0.01202	0.074636	0.01641	0	0.084543	0.02171	0	0.078618	0.02440	0	0.101684	0.03063	0	.	.	.	.	.	2.502000	0.45058	3.525000	0.38921	0.202000	0.17929	0.989000	0.36753	0.950000	0.28999	0.054000	0.15518	.	.	.	783	0.47268	.	.	.	.	.	.	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	0.02381	795.0	37	chr7	143756691	.	T	A	795.0	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.971e+00;DP=932;ExcessHet=0.0000;FS=9.637;InbreedingCoeff=-0.0259;MLEAC=1;MLEAF=0.024;MQ=31.75;MQRankSum=-2.298e+00;QD=4.65;ReadPosRankSum=-7.780e-01;SOR=0.433	GT:AD:DP:GQ:PL	0/1:127,44:171:99:809,0,3489	20	0	1	0
chr7	144401436	144401436	C	T	exonic	NOBOX	.	nonsynonymous SNV	NOBOX:NM_001080413:exon4:c.G454A:p.G152R,	Premature ovarian failure 5, Autosomal dominant	.	0	1510	11	1	0	13	0.00428619	.	.	310093	not_provided|Premature_ovarian_failure_5	MedGen:C3661900|MONDO:MONDO:0012689,MedGen:C1969060,OMIM:611548	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0	D	0.949	P	0.358	B	.	.	1.000	N	0.46	N	-3.0	D	-0.261	T	0.550	D	0.179	2.064	12.86	0.654	0.183	-0.114	4.107	0.259	.	0.0028	0.00219649	0.0037	0.0016	0.0017	0	0.0106	0.0047	0.0037	0.0009	0.0034346	531	154602	rs201806397	0.0040	0.0040	0.0041	0.0039	0.0044	0.0039	0.0039	0.0043	0.0043	0.0010	0.0018	0.0012	0	0.0083	0.0030	0.0044	0.0036	0.0009	0.0033	0.0033	0.0029	0.0038	0.0043	0.0031	0.0030	0.0039	0.0037	0.0009	0	0.0033	0.0006	0	0.0102	0.0068	0.0043	0.0043	0.0008	0.001	0.78490	D	0.017	0.60337	D	0.949	0.53761	P	0.358	0.43079	B	.	.	.	.	1	0.08975	N	1.245	0.31408	L	-3.0	0.94210	D	-2.93	0.62008	D	0.746	0.74553	-0.2611	0.76058	T	0.550	0.83513	D	9	0.009489834	0.00214	T	.	.	.	0.259	0.57090	0.232	0.16005	0.844476396585	0.84298	0.08946762915915193	0.08879	0.0441417609905	0.04759	0.287256002426	0.08524	T	0.184727	0.53748	T	-0.327444	0.06307	T	-0.242998	0.50504	T	0.0368745822133905	0.03133	T	0.542346	0.18433	T	0.105676256	0.24987	0.14734328	0.34872	0.10388156	0.24555	0.10965823	0.26431	-3.932	0.23548	T	0.16998417472848876	0.21346	0.134	0.36113	B	.;.;.	.;.;.	0.887936	0.12611	9.139	0.98033548230941203	0.37728	0.02552	0.07081	N	AEFDBI	0.054288	0.09858	N	-0.596101448186418	0.19063	0.9947453	-0.736919363533572	0.16044	0.8469026	2.94051453047282E-4	0.06406	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	4.61	0.654	0.17006	-0.102000	0.10926	-0.795000	0.07398	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5245:0.1751:0.3004	4.107	0.09513	955	0.09969	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.02381	1574.98	34	chr7	144401436	.	C	T	1574.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.21;DP=827;ExcessHet=0.0000;FS=3.476;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.06;ReadPosRankSum=0.661;SOR=0.436	GT:AD:DP:GQ:PL	0/1:54,58:112:99:1589,0,1292	20	0	1	0
chr7	149004087	149004087	C	T	exonic	PDIA4	.	nonsynonymous SNV	PDIA4:NM_001371244:exon10:c.G1648A:p.E550K	.	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.998	D	0.000	D	1.000	D	1.73	L	1.94	T	-1.085	T	0.099	T	0.92	4.892	28.1	5.81	2.751	7.574	20.073	0.492	.	0.0008	0.000599042	0.0020	0.0002	0.0004	0	0.0135	0.0020	0.0033	0.0005	0.0016688	258	154602	rs142233058	0.0013	0.0013	0.0013	0.0013	0.0016	0.0012	0.0012	0.0008	0.0008	0.0003	0.0004	0.0024	0	0.0129	0.0016	0.0009	0.0014	0.0003	0.0017	0.0017	0.0011	0.0024	0.0011	0.0016	0.0015	0.0009	0.0008	0.0003	0	0.0005	0.0017	0	0.0150	0	0.0011	0.0024	0	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.985	0.53793	M	1.94	0.22678	T	-3.45	0.67589	D	0.872	0.86941	-1.0851	0.06389	T	0.099	0.36882	T	10	0.020367831	0.00468	T	.	.	.	0.492	0.77847	.	.	0.470484629704	0.46675	.	.	0.485112295693	0.47406	0.77226215601	0.77764	T	0.108602	0.42178	T	-0.0514779	0.44222	T	0.123	0.78447	D	0.0656482360776478	0.08027	T	0.975436	0.91320	D	0.7837388	0.82884	0.8044998	0.88552	0.7837388	0.82885	0.8044998	0.88553	-7.409	0.56968	T	.	.	.	.	.	.	.	4.779472	0.77456	26.7	0.99930003406327583	0.99334	0.96223	0.68101	D	AEFGBCI	0.933218	0.92478	D	0.694133237193501	0.79248	7.037834	0.671963012134611	0.80254	7.258554	0.999999999999781	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.81	5.81	0.92413	7.618000	0.82239	5.835000	0.50197	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.447000	0.27828	0.0:1.0:0.0:0.0	20.073	0.97733	878	0.29785	Thioredoxin domain|Thioredoxin, conserved site|Thioredoxin domain|Disulphide isomerase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2938.11	38	chr7	149004087	.	C	T	2938.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-9.080e-01;DP=986;ExcessHet=0.1072;FS=0.981;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=1.35;SOR=0.617	GT:AD:DP:GQ:PL	0/1:55,71:126:99:1743,0,1391	19	0	2	0
chr7	151192771	151192771	T	C	exonic	IQCA1L	.	nonsynonymous SNV	IQCA1L:NM_001304419:exon16:c.A1904G:p.Y635C,	.	.	3	222	1	0	0	1	0.00224719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs200095758	0.0005	0.0002	0.0004	0.0005	0.0023	0.0004	0.0004	0.0006	0.0003	0.0001	0.0004	0.0028	0	0	0.0023	0.0004	0.0011	0.0003	0.0003	0.0003	0.0002	0.0004	0.0006	0.0002	0.0002	0.0003	0.0002	7.213e-05	0	0.0006	0.0029	0	0	0	0.0003	0.0019	0	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.418	0.45803	.	.	.	.	.	.	.	0.09893179	0.17919	T	.	.	.	.	.	.	.	0.433157607263	0.42933	0.31668162797754207	0.31581	.	.	.	.	.	.	.	.	-0.241007	0.15220	T	-0.277989	0.47011	T	.	.	.	0.79532	0.43818	T	0.18190542	0.39384	0.22968155	0.48048	0.18190542	0.39383	0.22968155	0.48047	-8.664	0.65510	D	.	.	0.080	0.07697	B	.	.	3.323526	0.45721	22.2	0.80449038191334477	0.13208	0.91039	0.52741	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999992051655916	0.74766	0.032271	0.00213	1	0.059962	0.00310	0	0.044551	0.00207	1	0.058706	0.01089	0	0.857527	0.52457	5.02	5.02	0.66742	2.904000	0.48417	3.406000	0.38159	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	12.707	0.56435	906	0.23090	ATPase, AAA-type, core	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1004.98	39	chr7	151192771	.	T	C	1004.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.21;DP=913;ExcessHet=0.0000;FS=3.474;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.31;ReadPosRankSum=-1.326e+00;SOR=1.071	GT:AD:DP:GQ:PL	0/1:77,44:121:99:1019,0,1954	20	0	1	0
chr7	152229940	152229940	A	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon18:c.T2959C:p.Y987H,	.	YES	526	320	669	7	0	683	0.516251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.002	U	1.000	D	2.11	M	-2.28	D	0.656	D	0.754	D	0.82	3.081	16.29	4.67	1.866	9.283	14.405	0.432	.	.	.	0.4728	0.4914	0.4863	0.4887	0.4732	0.4636	0.4765	0.4809	0.0018057	47	26028	rs77735469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.001979	0.37549	U	0.000000	0.971252	0.38857	D	2.22	0.62911	M	-2.28	0.87512	D	-4.01	0.75456	D	0.934	0.93959	0.656	0.92620	D	0.754	0.91609	D	10	0.012159407	0.00262	T	.	.	.	0.815	0.94046	.	.	.	.	0.5529033843776924	0.55216	2.65390431601	0.98462	0.900072455406	0.96449	D	0.576893	0.86083	D	0.315486	0.84148	D	0.215397	0.83941	D	0.0127532117779022	0.00216	T	0.984602	0.94707	D	0.6018943	0.72793	0.5814447	0.75738	0.6018943	0.72794	0.5814447	0.75739	-9.256	0.69330	D	0.6635921527459159	0.73748	0.854	0.79986	P	.;.	.;.	4.408107	0.68175	25.2	0.99273378386417865	0.57627	0.99067	0.90742	D	AEFBI	0.864295	0.78306	D	0.740431229350387	0.82279	7.723933	0.698705506977523	0.82280	7.728171	0.999787248307013	0.43007	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.67	4.67	0.58089	9.318000	0.95450	11.148000	0.87267	0.689000	0.82905	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.405	0.66648	929	0.16858	Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type;Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4048	21206.9	371	chr7	152229940	.	A	G	21206.9	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-6.890e-01;DP=6803;ExcessHet=25.1139;FS=0.000;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=44.68;MQRankSum=0.452;QD=3.93;ReadPosRankSum=0.208;SOR=0.720	GT:AD:DP:GQ:PL	0/1:224,78:302:99:1188,0,7413	4	0	17	0
chr7	159030723	159030723	T	C	exonic	VIPR2	.	nonsynonymous SNV	VIPR2:NM_001308259:exon10:c.A1162G:p.R388G	.	.	416	1104	2	0	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.839	P	0.231	B	0.000	D	1.000	N	2.1	M	-0.75	T	-0.747	T	0.246	T	0.302	2.119	13.04	-2.22	-0.748	0.343	7.064	0.218	0.106841587164	0.0003	0.000199681	0.0008	0	0.0003	0	0	0.0005	0	0.0024	0.0003169	49	154602	rs182364293	0.0002	0.0002	0.0001	0.0002	0.0025	0.0002	0.0002	0.0015	0.0011	0	0.0003	0.0006	0	0	0.0025	7.787e-05	0.0003	0.0014	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0003	0.0002	0	0	0.0006	0.0006	0	0	0	0.0002	0	0.0006	0.039	0.59928	D	0.102	0.54934	T	0.839	0.46454	P	0.231	0.38266	B	0.000085	0.51296	D	0.000000	0.999997	0.08975	N	2.08	0.57402	M	-0.75	0.73311	T	-4.13	0.75220	D	0.092	0.21056	-0.7473	0.58076	T	0.246	0.61542	T	10	0.010974944	0.00242	T	0.106842	0.78265	D	0.218	0.51265	.	.	0.505273739051	0.50166	0.4363411622857747	0.43551	0.242001101133	0.26716	0.541299760342	0.44629	T	0.510337	0.82676	D	-0.368163	0.03688	T	-0.336995	0.40685	T	0.0973044326960735	0.12057	T	0.721228	0.33447	T	0.24084613	0.46993	0.18011194	0.40789	0.24084613	0.46993	0.18011194	0.40788	-7.69	0.58938	D	.	.	0.072	0.08948	B	.;.;.	.;.;.	1.136243	0.15231	11.69	0.9633428671496419	0.29460	0.34795	0.25151	N	ALL	0.147795	0.27154	N	-0.579880488067481	0.19556	1.024456	-0.765814839052479	0.15334	0.805965	1.0	0.98316	0.685219	0.55550	0	0.573888	0.26702	0	0.674405	0.61402	0	0.554799	0.18163	0	.	.	5.06	-2.22	0.06560	0.361000	0.20003	-0.458000	0.09056	0.603000	0.45986	0.006000	0.17386	0.000000	0.08366	0.138000	0.19872	0.0:0.1615:0.3268:0.5118	7.064	0.24322	982	0.03397	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	869.98	36	chr7	159030723	.	T	C	869.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.070e-01;DP=761;ExcessHet=0.0000;FS=1.924;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=-4.540e-01;SOR=0.835	GT:AD:DP:GQ:PL	0/1:36,38:74:99:884,0,868	20	0	1	0
chr8	6936025	6936025	C	T	exonic	DEFA4	.	nonsynonymous SNV	DEFA4:NM_001925:exon3:c.G289A:p.D97N,	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.821	P	.	.	1.000	N	.	.	1.85	T	-1.040	T	0.100	T	0.039	2.186	13.27	0.387	0.452	0.000	.	0.054	0.00436675690579	.	0.000399361	9.062e-05	0	0.0003	0	0	0.0001	0	6.064e-05	8.41e-05	13	154602	rs201104526	4.037e-05	4.105e-05	3.404e-05	4.676e-05	0.0005	3.179e-05	2.911e-05	0.0001	7.544e-05	0	8.945e-05	0	0	0	0.0005	3.418e-05	9.937e-05	9.285e-05	6.571e-05	6.563e-05	5.142e-05	8.066e-05	0.0003	3.517e-05	2.616e-05	8.879e-05	5.388e-05	0	0	0.0003	0	0	0	0	7.352e-05	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	0.996	0.68779	D	0.821	0.59116	P	.	.	.	.	1	0.08975	N	.	.	.	1.85	0.24472	T	-0.25	0.11008	N	0.295	0.33360	-1.0402	0.17253	T	0.100	0.37290	T	7	0.043644637	0.03235	T	0.004367	0.10655	T	0.054	0.15330	.	.	0.126345400529	0.12197	0.04158711943367557	0.04103	0.00330647318829	0.00282	0.491671741009	0.37670	T	0.003154	0.02556	T	-0.496132	0.00601	T	-0.724734	0.04570	T	0.285070290323738	0.24384	T	.	.	.	0.10997806	0.25999	0.15198056	0.35778	0.10997806	0.25999	0.15198056	0.35777	-2.438	0.05371	T	.	.	0.103	0.18331	B	.	.	1.928068	0.24484	16.41	0.99616014170691369	0.75112	0.01747	0.05507	N	AEFBCI	0.028509	0.02523	N	-0.436047942419164	0.24215	1.305985	-0.746104429057774	0.15817	0.8337987	0.99963504339823	0.41205	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.387	0.387	0.15484	0.305000	0.19006	0.000000	0.13247	0.439000	0.21057	0.005000	0.17040	0.121000	0.22902	0.001000	0.02609	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1054.98	34	chr8	6936025	.	C	T	1054.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.13;DP=1996;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.87;ReadPosRankSum=-1.209e+00;SOR=0.654	GT:AD:DP:GQ:PL	0/1:74,45:119:99:1069,0,1812	20	0	1	0
chr8	7333413	7333413	G	A	exonic	USP17L1;USP17L3	.	nonsynonymous SNV	USP17L3:NM_001256871:exon1:c.G1027A:p.E343K	.	.	433	1061	21	7	0	35	0.0162262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00319489	0.0073	0.0029	0.0049	0	0.0132	0.0077	0.0163	0.0100	0.0060801	940	154602	rs117479685	0.0075	0.0074	0.0074	0.0076	0.0120	0.0074	0.0073	0.0110	0.0107	0.0021	0.0047	0.0108	0	0.0151	0.0120	0.0071	0.0081	0.0116	0.0065	0.0065	0.0062	0.0067	0.0121	0.0061	0.0060	0.0096	0.0087	0.0024	0	0.0045	0.0102	0.0002	0.0137	0.0071	0.0073	0.0086	0.0121	.	.	.	0.026	0.55759	D	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.015	0.05111	N	.	.	.	.	.	.	0.163	0.17140	.	.	.	.	.	.	.	0.0043545067	0.00088	T	.	.	.	.	.	.	.	0.0884992946249	0.08302	0.03157667906160756	0.03106	.	.	0.515870451927	0.41046	T	0.005528	0.04982	T	-0.491117	0.00641	T	-0.470271	0.25488	T	.	.	.	0.927707	0.73352	D	0.078882866	0.17991	0.124453545	0.29997	0.078882866	0.17991	0.124453545	0.29996	-4.207	0.26853	T	.	.	0.100	0.17275	B	.	.	1.316169	0.17197	13.02	0.34094756146361083	0.02067	0.00132	0.00814	N	AEFI	.	.	.	.	.	.	.	.	.	1.3125003058538E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0841919	0.19216	0.472	-0.943	0.09866	0.188000	0.16826	-0.128000	0.11649	0.304000	0.19002	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	.	.	.	994	0.00715	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	6822.12	36	chr8	7333413	.	G	A	6822.12	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.25;DP=1208;ExcessHet=0.1072;FS=1.095;InbreedingCoeff=-0.0504;MLEAC=2;MLEAF=0.048;MQ=57.88;MQRankSum=2.61;QD=12.80;ReadPosRankSum=1.99;SOR=0.797	GT:AD:DP:GQ:PL	0/1:136,148:284:99:3718,0,3502	19	0	2	0
chr8	8377353	8377364	GCCGCTGCCGCT	-	exonic	PRAG1	.	nonframeshift deletion	PRAG1:NM_001080826:exon3:c.1045_1056del:p.S349_L1405delinsASSPFVPHLESDYCSLMKEPAPEKQQDPGCPGVTPSRCLGLTGEPQPPAHPREATQPEPIYAESTKRKKAAPVPSKSQAKIEHAAAAQGQGQVCTGNAWAQKAASGWGRDSPDPTPQVSATITVMAAHPEEDHRTIYLSSPDSAVGVQWPRGPVSQNSEVGEEETSAGQGLSSRESHAHSASESKPKERPAIPPKLSKSSPVGSPVSPSAGGPPVSPLADLSDGSSGGSSIGPQPPSQGPADPAPSCRTNGVAISDPSRCPQPAASSASEQRRPRFQAGTWSRQCRIEEEEEVEQELLSHSWGRETKNGPTDHSNSTTWHRLHPTDGSSGQNSKVGTGMSKSASFAFEFPKDRSGIETFSPPPPPPKSRHLLKMNKSSSDLEKVSQGSAESLSPSFRGVHVSFTTGSTDSLASDSRTCSDGGPSSELAHSPTNSGKKLFAPVPFPSGSTEDVSPSGPQQPPPLPQKKIVSRAASSPDGFFWTQGSPKPGTASPKLNLSHSETNVHDESHFSYSLSPGNRHHPVFSSSDPLEKAFKGSGHWLPAAGLAGNRGGCGSPGLQCKGAPSASSSQLSVSSQASTGSTQLQLHGLLSNISSKEGTYAKLGGLYTQSLARLVAKCEDLFMGGQKKELHFNENNWSLFKLTCNKPCCDSGDAIYYCATCSEDPGSTYAVKICKAPEPKTVSYCSPSVPVHFNIQQDCGHFVASVPSSMLSSPDAPKDPVPALPTHPPAQEQDCVVVITREVPHQTASDFVRDSAASHQAEPEAYERRVCFLLLQLCNGLEHLKEHGIIHRDLCLENLLLVHCTLQAGPGPAPAPAPAPAPAAAAPPCSSAAPPAGGTLSPAAGPASPEGPREKQLPRLIISNFLKAKQKPGGTPNLQQKKSQARLAPEIVSASQYRKFDEFQTGILIYELLHQPNPFEVRAQLRERDYRQEDLPPLPALSLYSPGLQQLAHLLLEADPIKRIRIGEAKRVLQCLLWGPRRELVQQPGTSEEALCGTLHNWIDMKRALMMMKFAEKAVDRRRGVELEDWLCCQYLASAEPGALLQSLKLLQLL*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs1275152506	0.0002	0.0002	0.0003	0.0002	0.0066	0.0002	0.0002	0.0058	0.0056	0.0066	0.0003	0	7.61e-05	0	0	3.646e-05	0.0005	0.0001	0.0017	0.0017	0.0017	0.0017	0.0059	0.0015	0.0015	0.0053	0.0050	0.0059	0	0.0004	0	0	9.557e-05	0	7.393e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	27670.54	87	chr8	8377352	.	CGCCGCTGCCGCT	C,CGCCGCT	27670.54	.	AC=1,15;AF=0.024,0.357;AN=42;BaseQRankSum=0.016;DP=1905;ExcessHet=4.5793;FS=0.000;InbreedingCoeff=-0.2115;MLEAC=1,15;MLEAF=0.024,0.357;MQ=60.00;MQRankSum=0.00;QD=22.31;ReadPosRankSum=0.294;SOR=0.704	GT:AD:DP:GQ:PL	0/2:44,0,54:98:99:2130,2262,4100,0,1837,1674	7	0	1	0
chr8	8377359	8377364	GCCGCT	-	exonic	PRAG1	.	nonframeshift deletion	PRAG1:NM_001080826:exon3:c.1045_1050del:p.S351_L1405delinsASSPFVPHLESDYCSLMKEPAPEKQQDPGCPGVTPSRCLGLTGEPQPPAHPREATQPEPIYAESTKRKKAAPVPSKSQAKIEHAAAAQGQGQVCTGNAWAQKAASGWGRDSPDPTPQVSATITVMAAHPEEDHRTIYLSSPDSAVGVQWPRGPVSQNSEVGEEETSAGQGLSSRESHAHSASESKPKERPAIPPKLSKSSPVGSPVSPSAGGPPVSPLADLSDGSSGGSSIGPQPPSQGPADPAPSCRTNGVAISDPSRCPQPAASSASEQRRPRFQAGTWSRQCRIEEEEEVEQELLSHSWGRETKNGPTDHSNSTTWHRLHPTDGSSGQNSKVGTGMSKSASFAFEFPKDRSGIETFSPPPPPPKSRHLLKMNKSSSDLEKVSQGSAESLSPSFRGVHVSFTTGSTDSLASDSRTCSDGGPSSELAHSPTNSGKKLFAPVPFPSGSTEDVSPSGPQQPPPLPQKKIVSRAASSPDGFFWTQGSPKPGTASPKLNLSHSETNVHDESHFSYSLSPGNRHHPVFSSSDPLEKAFKGSGHWLPAAGLAGNRGGCGSPGLQCKGAPSASSSQLSVSSQASTGSTQLQLHGLLSNISSKEGTYAKLGGLYTQSLARLVAKCEDLFMGGQKKELHFNENNWSLFKLTCNKPCCDSGDAIYYCATCSEDPGSTYAVKICKAPEPKTVSYCSPSVPVHFNIQQDCGHFVASVPSSMLSSPDAPKDPVPALPTHPPAQEQDCVVVITREVPHQTASDFVRDSAASHQAEPEAYERRVCFLLLQLCNGLEHLKEHGIIHRDLCLENLLLVHCTLQAGPGPAPAPAPAPAPAAAAPPCSSAAPPAGGTLSPAAGPASPEGPREKQLPRLIISNFLKAKQKPGGTPNLQQKKSQARLAPEIVSASQYRKFDEFQTGILIYELLHQPNPFEVRAQLRERDYRQEDLPPLPALSLYSPGLQQLAHLLLEADPIKRIRIGEAKRVLQCLLWGPRRELVQQPGTSEEALCGTLHNWIDMKRALMMMKFAEKAVDRRRGVELEDWLCCQYLASAEPGALLQSLKLLQLL*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0072	0.0009	0.0003	0.0003	5.986e-05	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	27670.54	87	chr8	8377352	.	CGCCGCTGCCGCT	C,CGCCGCT	27670.54	.	AC=1,15;AF=0.024,0.357;AN=42;BaseQRankSum=0.016;DP=1905;ExcessHet=4.5793;FS=0.000;InbreedingCoeff=-0.2115;MLEAC=1,15;MLEAF=0.024,0.357;MQ=60.00;MQRankSum=0.00;QD=22.31;ReadPosRankSum=0.294;SOR=0.704	GT:AD:DP:GQ:PL	0/2:44,0,54:98:99:2130,2262,4100,0,1837,1674	7	0	1	0
chr8	10609944	10609944	A	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.T4154C:p.L1385P,	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.027	B	0.014	B	.	.	1.000	N	0.345	N	3.31	T	-0.952	T	0.010	T	0.123	0.824	8.317	-1.96	-0.572	0.007	4.524	0.019	0.00154599027019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.957e-07	6.841e-06	1.384e-06	0	9.147e-07	0	0	.	.	0	0	0	0	0	0	9.147e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.352	0.17372	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.31	0.06291	T	-0.84	0.22944	N	0.246	0.27792	-0.9521	0.40608	T	0.010	0.03627	T	9	0.09340763	0.16528	T	0.001546	0.02420	T	0.019	0.03383	0.19	0.10039	0.252681307341	0.24864	0.04820050725330025	0.04763	.	.	0.277951002121	0.07208	T	.	.	.	-0.338111	0.05520	T	-0.723449	0.04631	T	0.104427913888091	0.12837	T	0.312769	0.06128	T	0.18423171	0.39729	0.18186693	0.41077	0.18423171	0.39728	0.18186693	0.41076	-5.006	0.36905	T	.	.	0.116	0.23500	B	.	.	1.339715	0.17462	13.18	0.83328979539444226	0.14666	0.00623	0.02749	N	AEFDBI	0.039816	0.05836	N	-1.21499860110366	0.04781	0.2165456	-1.31279977474022	0.04264	0.2007433	1.76998291139271E-4	0.05786	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	1.72	-1.96	0.07113	-0.566000	0.06013	-0.531000	0.08635	0.410000	0.20643	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4099:0.1824:0.4077:0.0	4.524	0.11378	794	0.45591	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4444	23209.27	218	chr8	10609944	.	A	G	23209.27	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-3.977e+00;DP=5343;ExcessHet=20.9642;FS=235.485;InbreedingCoeff=-0.7143;MLEAC=18;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=5.49;ReadPosRankSum=0.786;SOR=14.188	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,109:273:99:0|1:10609943_C_T:2710,0,5530:10609943	2	0	16	3
chr8	10609948	10609948	C	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150C:p.G1384R,	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3188301	Retinal_dystrophy	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.992	D	0.584	P	.	.	1.000	N	0.345	N	3.32	T	-0.947	T	0.014	T	0.044	-1.090	0.153	0.493	0.514	-0.384	6.300	0.045	0.00162238193855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.94e-06	1.642e-05	1.095e-05	6.912e-06	0.0003	4.99e-06	3.84e-06	0.0002	0.0002	0	0	0	0.0003	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.10402462	0.19156	T	0.001622	0.02625	T	0.045	0.12272	0.278	0.23164	0.316788114976	0.31282	0.06568765536653219	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.397244	0.02413	T	-0.80839	0.01701	T	0.0790720420029634	0.09867	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.672697	0.10411	7.134	0.053606148112299815	0.00010	0.02277	0.06569	N	AEFDBI	0.028927	0.02637	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28582.14	217	chr8	10609948	.	C	G,T	28582.14	.	AC=15,2;AF=0.441,0.059;AN=34;BaseQRankSum=-3.070e+00;DP=5190;ExcessHet=25.1139;FS=287.113;InbreedingCoeff=-0.8261;MLEAC=17,2;MLEAF=0.500,0.059;MQ=60.00;MQRankSum=0.00;QD=6.48;ReadPosRankSum=0.966;SOR=14.460	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:165,109,0:274:99:0|1:10609943_C_T:2707,0,5533,3195,5849,9044:10609943	0	0	15	4
chr8	10609948	10609948	C	T	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150A:p.G1384R,	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.992	D	0.584	P	.	.	1.000	N	0.345	N	3.32	T	-0.947	T	0.014	T	0.044	-0.967	0.313	0.493	0.514	-0.384	6.300	0.050	0.00160529655429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.751e-06	2.736e-06	1.369e-06	4.147e-06	3.01e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	3.01e-05	0	0	0	0	0	2.712e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.104384124	0.19241	T	0.001605	0.02574	T	0.050	0.13987	0.278	0.23164	0.316788114976	0.31282	0.06568764159549773	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.39725	0.02413	T	-0.808399	0.01701	T	0.0816829286653207	0.10202	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.735258	0.11045	7.700	0.060865936656048288	0.00019	0.01778	0.05572	N	AEFDBI	0.030371	0.03043	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28582.14	217	chr8	10609948	.	C	G,T	28582.14	.	AC=15,2;AF=0.441,0.059;AN=34;BaseQRankSum=-3.070e+00;DP=5190;ExcessHet=25.1139;FS=287.113;InbreedingCoeff=-0.8261;MLEAC=17,2;MLEAF=0.500,0.059;MQ=60.00;MQRankSum=0.00;QD=6.48;ReadPosRankSum=0.966;SOR=14.460	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:165,109,0:274:99:0|1:10609943_C_T:2707,0,5533,3195,5849,9044:10609943	0	0	15	4
chr8	10610764	10610764	T	C	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.A3334G:p.S1112G,	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.803	P	0.249	B	0.473	N	0.646	N	0.975	L	-1.28	T	-0.680	T	0.266	T	0.271	1.933	12.42	-0.636	-0.261	2.318	5.428	0.202	0.200702849377	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	6.84e-07	0	1.376e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.081	0.41742	T	.	.	.	.	.	.	0.473485	0.12249	N	0.675757	0.646059	0.30574	N	1.21	0.30464	L	-1.28	0.79376	T	-2.8	0.59226	D	0.186	0.20262	-0.6805	0.61349	T	0.266	0.63716	T	10	0.17602152	0.32565	T	0.200703	0.86723	D	0.202	0.48754	0.227	0.15257	0.333651784274	0.32972	0.07049533006319005	0.06986	.	.	0.361634910107	0.19624	T	0.145847	0.48317	T	-0.011829	0.50010	T	-0.254768	0.49346	T	0.56569516658783	0.35071	D	0.424958	0.11391	T	0.37306088	0.58810	0.30488464	0.56517	0.37306088	0.58811	0.30488464	0.56516	-6.371	0.49283	T	0.17892076814376026	0.22955	0.126	0.26669	B	.	.	1.772603	0.22541	15.66	0.96067778554374905	0.28614	0.93068	0.57246	D	AEFDBI	0.299041	0.40820	N	-0.466811832275271	0.23173	1.242608	-0.562203189693988	0.20482	1.103723	1.57201066507265E-4	0.05650	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.74	-0.636	0.10930	1.993000	0.40367	-0.158000	0.11351	0.651000	0.53179	1.000000	0.71638	0.777000	0.26748	0.107000	0.18608	0.0:0.1513:0.2767:0.5721	5.428	0.15738	793	0.45818	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1422.98	48	chr8	10610764	.	T	C	1422.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.648e+00;DP=1102;ExcessHet=0.0000;FS=1.386;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.95;ReadPosRankSum=-5.570e-01;SOR=0.836	GT:AD:DP:GQ:PL	0/1:67,63:130:99:1437,0,1692	20	0	1	0
chr8	11546092	11546092	A	G	exonic	BLK	.	nonsynonymous SNV	BLK:NM_001715:exon3:c.A164G:p.H55R,	Maturity-onset diabetes of the young, type 11, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	610600	Maturity-onset_diabetes_of_the_young_type_11|Systemic_lupus_erythematosus	MONDO:MONDO:0013242,MedGen:C3150618,OMIM:613375,Orphanet:552|Human_Phenotype_Ontology:HP:0002725,MONDO:MONDO:0007915,MedGen:C0024141,OMIM:152700,Orphanet:536	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.54	T	0.0	B	0.0	B	0.301	N	1.000	N	0	N	1.0	T	-1.072	T	0.043	T	0.134	0.212	5.141	-2.6	-0.309	-0.039	0.902	0.019	0.00243323065972	.	.	4.119e-05	0	0	0	0	7.493e-05	0	0	3.23e-05	5	154602	rs202053568	3.42e-05	3.42e-05	2.995e-05	3.85e-05	0.0002	2.631e-05	2.375e-05	2.54e-05	2.224e-05	0	2.236e-05	0	0	0.0002	0.0002	3.417e-05	1.656e-05	0	1.315e-05	1.313e-05	1.285e-05	1.346e-05	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.494	0.07895	T	0.507	0.10930	T	0.0	0.02946	B	0.0	0.01387	B	0.301129	0.03955	N	1.602340	1	0.19694	N	0.55	0.14455	N	1.0	0.41392	T	-0.52	0.16187	N	0.226	0.25377	-1.0720	0.08979	T	0.043	0.18326	T	10	0.05562961	0.06110	T	0.002433	0.04785	T	0.019	0.03383	0.303	0.27164	0.472023113445	0.46832	0.2165137397879861	0.21567	0.0236920718998	0.02399	0.345870435238	0.17312	T	0.052533	0.29189	T	-0.425803	0.01572	T	-0.669117	0.07665	T	0.0454574823379517	0.04684	T	0.160084	0.01443	T	0.024685958	0.01325	0.02701039	0.00824	0.021990204	0.00833	0.03400187	0.02390	-3.379	0.14775	T	.	.	0.062	0.01271	B	.	.	-0.110003	0.03584	0.697	0.46817775251444316	0.03779	0.01499	0.04968	N	AEFDGBHCI	0.052696	0.09431	N	-1.2781895605162	0.03939	0.1768893	-1.3038676920473	0.04380	0.2064656	0.999999999996906	0.74766	0.525926	0.21836	0	0.52208	0.09955	0	0.615948	0.41167	0	0.631631	0.49550	0	.	.	4.6	-2.6	0.05830	0.033000	0.13642	.	.	-0.100000	0.15956	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.41:0.1467:0.2788:0.1645	0.902	0.01196	913	0.21160	.	.	.	.	.	.	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	0.02381	686.98	34	chr8	11546092	.	A	G	686.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.840e-01;DP=783;ExcessHet=0.0000;FS=2.810;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.47;ReadPosRankSum=1.07;SOR=0.551	GT:AD:DP:GQ:PL	0/1:57,35:92:99:701,0,1391	20	0	1	0
chr8	12186441	12186441	C	0	exonic	FAM86B1	.	.	.	.	.	506	833	66	2	115	185	0.0403226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	1276.77	130	chr8	12186441	.	C	G,*	1276.77	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=-6.950e-01;DP=1097;ExcessHet=1.1607;FS=1.769;InbreedingCoeff=-0.1451;MLEAC=3,2;MLEAF=0.071,0.048;MQ=38.36;MQRankSum=-2.685e+00;QD=2.30;ReadPosRankSum=-9.370e-01;SOR=0.974	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,17,0:71:99:0|1:12186399_A_G:533,0,2147,696,2198,2894:12186399	16	0	3	0
chr8	17989893	17989893	A	G	exonic	PCM1	.	nonsynonymous SNV	PCM1:NM_001352647:exon25:c.A4280G:p.H1427R	.	.	46	1475	1	0	0	1	0.000338868	.	.	2382244	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.589	P	0.219	B	0.137	N	1.000	N	0	N	-0.01	T	-1.060	T	0.040	T	0.245	2.325	13.73	3.86	2.096	2.570	3.395	0.062	0.00899148486443	9.1e-05	.	4.472e-05	0	0	0	0	0.0001	0	0	6.5e-06	1	154602	rs372028178	2.438e-05	2.326e-05	2.123e-05	2.762e-05	0.0002	1.755e-05	1.549e-05	2.236e-05	1.22e-05	0	8.438e-05	0	0	0	0.0002	2.138e-05	5.189e-05	5.093e-05	3.946e-05	3.94e-05	3.858e-05	4.038e-05	0.0003	1.717e-05	1.13e-05	0.0001	8.3e-05	0	0	0.0003	0	0	0	0	1.472e-05	0	0	0.384	0.11050	T	0.411	0.30828	T	.	.	.	.	.	.	0.137098	0.18424	N	0.595351	0.926264	0.27173	N	.	.	.	-0.01	0.62762	T	-1.11	0.28703	N	0.175	0.21449	-1.0602	0.11706	T	0.040	0.17063	T	10	0.11991602	0.22702	T	0.008991	0.23678	T	0.068	0.19811	.	.	0.790636350121	0.78869	0.08138399061608662	0.08073	.	.	0.497786700726	0.38519	T	.	.	.	-0.203948	0.20238	T	-0.38044	0.35669	T	0.187468320131302	0.19694	T	0.645735	0.25721	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.10497	B	.;.;.;.	.;.;.;.	2.602587	0.33784	19.44	0.97876302910538704	0.36567	0.73502	0.35953	D	AEFBI	0.182100	0.30943	N	0.0505751325218534	0.44168	2.695899	0.168984972520942	0.48157	3.035449	0.111213031812127	0.16653	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.631631	0.49550	0	.	.	5.17	3.86	0.43689	2.635000	0.46203	1.977000	0.30015	0.756000	0.94297	1.000000	0.71638	0.999000	0.35428	0.996000	0.76049	0.6558:0.0:0.3442:0.0	3.395	0.06880	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	0.02381	1150.98	35	chr8	17989893	.	A	G	1150.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.666e+00;DP=789;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=-1.070e-01;SOR=0.637	GT:AD:DP:GQ:PL	0/1:43,53:96:99:1165,0,1005	20	0	1	0
chr8	23682862	23682862	C	G	exonic	NKX3-1	.	nonsynonymous SNV	NKX3-1:NM_001256339:exon1:c.G28C:p.G10R	.	.	283	1219	19	1	0	21	0.00854006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.003	B	0.004	B	0.009	N	1.000	N	0.695	N	-2.7	D	-0.444	T	0.437	T	0.144	3.467	17.75	-0.838	-0.448	0.311	9.973	0.205	.	.	0.00159744	0.0039	0.0050	0	0	0.0455	0.0045	0	0.0037	0.001119	173	154602	rs199879315	0.0038	0.0036	0.0039	0.0037	0.0059	0.0037	0.0036	0.0041	0.0040	0.0004	0.0020	8.706e-05	0	0.0038	0.0059	0.0042	0.0038	0.0026	0.0025	0.0025	0.0028	0.0023	0.0042	0.0023	0.0022	0.0038	0.0037	0.0006	0	0.0018	0	0	0.0025	0.0137	0.0042	0.0024	0.0021	0.134	0.56456	T	0.099	0.38891	T	0.003	0.11197	B	0.004	0.10090	B	0.008725	0.01216	N	4.460320	1	0.08975	N	1.245	0.31408	L	-2.7	0.91643	D	-1.01	0.26639	N	0.114	0.10340	-0.4440	0.70598	T	0.437	0.77663	T	10	0.0044508576	0.00091	T	.	.	.	0.205	0.49236	0.196	0.10839	0.817378622091	0.81565	0.19839726917081543	0.19756	0.843248174428	0.68164	0.675098955631	0.63566	T	0.09831	0.40201	T	-0.383331	0.02968	T	-0.322727	0.42274	T	0.0694187926280806	0.08570	T	0.461754	0.13398	T	0.06653287	0.14324	0.110001214	0.26519	0.06653287	0.14324	0.110001214	0.26519	-3.88	0.22002	T	.	.	0.110	0.21049	B	.;.	.;.	1.568187	0.20082	14.58	0.98761231855630283	0.45816	0.20371	0.21016	N	ALL	0.091290	0.18492	N	-1.17562686390958	0.05370	0.2446397	-1.21933654477296	0.05599	0.267248	0.999997869941008	0.74766	0.437478	0.07067	0	0.552344	0.17405	0	0.503968	0.08637	0	0.603991	0.37454	0	.	.	4.65	-0.838	0.10218	-0.945000	0.04019	-0.451000	0.09099	0.524000	0.24156	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.3611:0.5543:0.0846	9.973	0.40939	783	0.47268	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	168.98	35	chr8	23682862	.	C	G	168.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.700e-02;DP=776;ExcessHet=0.0000;FS=1.519;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=4.97;ReadPosRankSum=-3.610e-01;SOR=1.179	GT:AD:DP:GQ:PL	0/1:22,12:34:99:183,0,480	20	0	1	0
chr8	27776612	27776612	A	G	exonic	ESCO2	.	nonsynonymous SNV	ESCO2:NM_001017420:exon3:c.A304G:p.I102V,	Roberts syndrome, Autosomal recessive;SC phocomelia syndrome, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	273926	Roberts-SC_phocomelia_syndrome|not_provided	MONDO:MONDO:0100253,MedGen:C0392475,OMIM:268300,Orphanet:3103|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.23	T	0.004	B	0.019	B	0.022	N	1.000	D	1.78	L	0.7	T	-0.996	T	0.179	T	0.095	1.259	10.11	-0.832	-0.065	0.368	4.159	0.048	0.0113185891406	.	.	8.268e-05	0	0	0	0	0.0001	0	0.0001	8.41e-05	13	154602	rs201354290	0.0003	0.0003	0.0002	0.0003	0.0009	0.0002	0.0002	0.0003	0.0003	0	2.236e-05	0	0	0	0.0009	0.0003	0.0002	0.0002	7.225e-05	7.223e-05	7.706e-05	6.722e-05	0.0001	3.97e-05	3.126e-05	4.764e-05	3.338e-05	2.412e-05	0	6.544e-05	0	0	0	0	0.0001	0.0010	0	0.233	0.25979	T	0.0	0.92824	D	0.002	0.09854	B	0.007	0.12992	B	0.022001	0.26719	N	0.454089	0.654033	0.81001	D	1.355	0.33814	L	0.7	0.67011	T	-0.53	0.16393	N	0.063	0.03502	-0.9958	0.31082	T	0.179	0.52536	T	10	0.118229866	0.22347	T	0.011319	0.28825	T	0.048	0.13305	.	.	0.650937406085	0.64803	0.1726468118278754	0.17184	0.101361736065	0.11470	0.396853804588	0.24631	T	0.022821	0.17526	T	-0.360347	0.04110	T	-0.48609	0.23801	T	0.0293195511310961	0.01886	T	0.619338	0.25461	T	0.030766703	0.02796	0.028842924	0.01160	0.030766703	0.02796	0.028842924	0.01160	-3.652	0.18612	T	.	.	0.145	0.32030	B	.;.;.	.;.;.	1.087916	0.14711	11.26	0.87929945435024348	0.17588	0.32267	0.24543	N	AEFBI	0.102951	0.20640	N	-0.422778479958731	0.24672	1.333882	-0.337167158488305	0.26909	1.489563	0.999612491561007	0.40981	0.651	0.46895	0	0.627608	0.54475	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.63	-0.832	0.10240	0.207000	0.17194	0.977000	0.23099	0.691000	0.84096	0.989000	0.36753	0.994000	0.32194	0.976000	0.56436	0.515:0.0:0.3329:0.1521	4.159	0.09738	895	0.25842	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	5901.98	36	chr8	27776612	.	A	G	5901.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.462;DP=1130;ExcessHet=0.0000;FS=2.678;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.25;ReadPosRankSum=-5.040e-01;SOR=0.637	GT:AD:DP:GQ:PL	0/1:173,214:387:99:5916,0,4544	20	0	1	0
chr8	27780175	27780175	A	C	exonic	ESCO2	.	nonsynonymous SNV	ESCO2:NM_001017420:exon4:c.A863C:p.D288A,	Roberts syndrome, Autosomal recessive;SC phocomelia syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	0.0017	0.124	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.267	B	0.058	B	0.359	N	0.966	D	2.015	M	-0.08	T	-0.908	T	0.177	T	0.159	1.495	10.95	3.09	1.097	0.752	5.703	0.041	0.036113372851	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1324955909	6.944e-07	6.842e-07	0	1.394e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.28395	T	0.624	0.07342	T	0.267	0.31683	B	0.058	0.26451	B	0.359022	0.13698	N	0.732438	0.965928	0.38498	D	2.015	0.55033	M	-0.08	0.63911	T	-1.05	0.27463	N	0.293	0.33140	-0.9082	0.47073	T	0.177	0.52131	T	10	0.103900224	0.19127	T	0.036113	0.56785	D	0.041	0.10877	0.179	0.08626	0.644361271733	0.64141	0.23860764320505623	0.23774	0.186473168154	0.20951	0.334399044514	0.15597	T	0.019686	0.15640	T	-0.1399	0.29908	T	-0.438733	0.28951	T	0.0817420536834671	0.10209	T	0.421758	0.11220	T	0.05420681	0.10369	0.045814186	0.06246	0.05420681	0.10369	0.045814186	0.06245	-4.455	0.30296	T	.	.	0.092	0.13690	B	.	.	1.337190	0.17432	13.16	0.98537901942743511	0.42682	0.48282	0.28172	N	AEFBI	0.074448	0.14923	N	-0.418098471699974	0.24835	1.343802	-0.402761158416542	0.24916	1.367142	0.999901861649278	0.45458	0.615465	0.37627	0	0.541556	0.11502	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.45	3.09	0.34677	1.246000	0.32405	1.814000	0.28986	-0.040000	0.17491	0.588000	0.27650	0.999000	0.35428	0.009000	0.08673	0.7878:0.0:0.2122:0.0	5.703	0.17162	899	0.25060	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	426.98	34	chr8	27780175	.	A	C	426.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.313e+00;DP=755;ExcessHet=0.0000;FS=1.040;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.49;ReadPosRankSum=-8.940e-01;SOR=0.830	GT:AD:DP:GQ:PL	0/1:35,22:57:99:441,0,906	20	0	1	0
chr8	28780872	28780872	G	C	exonic	INTS9	.	nonsynonymous SNV	INTS9:NM_001145159:exon11:c.C1158G:p.H386Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.988	D	0.869	P	0.000	D	1.000	D	2.115	M	0.93	T	-0.886	T	0.159	T	0.906	4.104	21.1	0.193	0.076	0.581	10.624	0.284	0.016436562205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.942e-05	2.723e-06	1.375e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.007	0.69154	D	0.943	0.53072	P	0.823	0.59197	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.935	0.51832	L	0.9	0.46412	T	-6.4	0.91184	D	0.958	0.97317	-0.8865	0.49231	T	0.159	0.49296	T	10	0.78347826	0.78049	D	0.016437	0.37697	T	0.284	0.60219	0.331	0.31681	0.611786747218	0.60866	0.7458400941079445	0.74530	1.09661947037	0.77599	0.802756369114	0.82384	T	0.389927	0.75023	T	0.189418	0.72910	D	0.0343095	0.72559	D	0.994060456752777	0.85148	D	0.789321	0.45144	T	0.9127507	0.92552	0.8257955	0.89911	0.9127507	0.92554	0.8257955	0.89912	-11.639	0.83227	D	.	.	0.945	0.89314	P	.;.;.	.;.;.	3.184076	0.43231	21.7	0.99337460911012421	0.60051	0.90823	0.52327	D	AEFBI	0.386581	0.46689	N	0.15838004896007	0.49210	3.123909	0.105560327046998	0.44831	2.757433	0.984078514391494	0.30659	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.97	0.193	0.14419	0.609000	0.23935	1.081000	0.23892	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.5112:0.0:0.4888:0.0	10.624	0.44686	533	0.73433	Beta-Casp domain|Beta-Casp domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2143	935.59	59	chr8	28780872	.	G	C	935.59	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-3.284e+00;DP=1729;ExcessHet=4.7172;FS=229.301;InbreedingCoeff=-0.2916;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.09;ReadPosRankSum=-6.400e-02;SOR=11.592	GT:AD:DP:GQ:PL	0/1:69,26:95:99:99,0,1056	12	0	9	0
chr8	54459229	54459229	C	T	exonic	SOX17	.	nonsynonymous SNV	SOX17:NM_022454:exon2:c.C479T:p.A160V,	Vesicoureteral reflux 3, Autosomal dominant	.	2	1476	44	0	0	44	0.0146862	.	.	711581	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.54	T	0.003	B	0.004	B	0.057	N	0.941	N	0.6	N	-4.31	D	-0.192	T	0.696	D	0.034	1.873	12.22	2.03	0.292	5.163	4.299	0.282	.	0.0024	0.00119808	0.0096	0.0011	0.0038	0	0.0042	0.0119	0.0177	0.0117	0.0038227	591	154602	rs200011294	0.0059	0.0057	0.0056	0.0061	0.0112	0.0058	0.0057	0.0106	0.0104	0.0008	0.0015	0.0078	2.965e-05	0.0028	0.0082	0.0060	0.0062	0.0112	0.0038	0.0038	0.0041	0.0035	0.0079	0.0035	0.0034	0.0059	0.0053	0.0011	0	0.0019	0.0075	0.0002	0.0024	0.0137	0.0059	0.0028	0.0079	0.165	0.23271	T	0.212	0.26549	T	0.003	0.11197	B	0.004	0.10090	B	0.056805	0.22530	N	0.459900	0.941068	0.26790	N	1.65	0.42232	L	-4.31	0.97195	D	-1.62	0.38924	N	0.088	0.06587	-0.1919	0.77880	T	0.696	0.89514	D	10	0.0062076747	0.00140	T	.	.	.	0.282	0.59981	.	.	0.612969470845	0.60985	0.3042132094351527	0.30334	0.994442852955	0.74171	0.781738877296	0.79190	T	0.497817	0.81953	T	-0.386289	0.02842	T	-0.318259	0.42765	T	0.00651151177596151	0.00073	T	0.661834	0.27067	T	0.03865075	0.05189	0.0676886	0.14038	0.040026456	0.05637	0.0676886	0.14038	-6.272	0.48500	T	0.2399140830995001	0.32497	0.103	0.18456	B	.	.	1.875178	0.23817	16.16	0.98841066517633036	0.47119	0.87261	0.46747	D	AEFDBHCI	0.637359	0.61617	D	-0.786852546135638	0.13652	0.6740818	-0.676008962276269	0.17561	0.9343258	0.999999669968903	0.74766	0.623204	0.39778	0	0.563428	0.19063	0	0.378051	0.06126	2	0.372554	0.06265	0	.	.	3.93	2.03	0.25714	1.542000	0.35742	3.048000	0.36109	-0.384000	0.05376	0.008000	0.17931	0.995000	0.32472	0.769000	0.36481	0.1588:0.5981:0.1542:0.0889	4.299	0.10359	905	0.23532	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1380.98	34	chr8	54459229	.	C	T	1380.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.883e+00;DP=802;ExcessHet=0.0000;FS=2.975;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.87;ReadPosRankSum=-1.299e+00;SOR=1.128	GT:AD:DP:GQ:PL	0/1:35,52:87:99:1395,0,1006	20	0	1	0
chr8	55773664	55773664	A	G	exonic	TGS1	.	nonsynonymous SNV	TGS1:NM_024831:exon1:c.A46G:p.I16V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.0	B	0.0	B	0.638	N	1.000	N	1.79	L	2.94	T	-0.976	T	0.023	T	0.091	0.581	7.138	-9.95	-3.098	-1.869	12.462	0.061	0.00188866697486	.	0.000199681	1.653e-05	0	0	0.0002	0	0	0	0	1.94e-05	3	154602	rs200713455	1.371e-05	1.505e-05	6.818e-06	2.066e-05	0.0001	8.95e-06	7.28e-06	5.427e-05	4.065e-05	0	0	0	0.0001	0	0	4.5e-06	1.658e-05	0.0001	1.969e-05	1.969e-05	1.285e-05	2.685e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.372e-05	0	0	0	0	0.0006	0	0	0	0	0	0.369	0.11586	T	0.312	0.19599	T	0.0	0.02946	B	0.0	0.01387	B	0.638339	0.05853	N	1.191810	1	0.08975	N	0.895	0.22405	L	2.94	0.09728	T	-0.06	0.07882	N	0.021	0.00339	-0.9764	0.35816	T	0.023	0.09696	T	10	0.014233738	0.00300	T	0.001889	0.03325	T	0.061	0.17616	.	.	0.548611889291	0.54518	0.06264575779289758	0.06204	0.0201066416004	0.01973	0.29915958643	0.10276	T	0.026423	0.19558	T	-0.547325	0.00303	T	-0.754671	0.03307	T	0.141830831766129	0.16432	T	0.459554	0.13284	T	0.043530025	0.06802	0.058731068	0.10903	0.043530025	0.06801	0.058731068	0.10902	-3.068	0.10932	T	.	.	0.064	0.01762	B	.	.	-0.826967	0.01055	0.045	0.54005299357619141	0.05051	0.01120	0.04086	N	ALL	0.047384	0.07973	N	-1.85184753395533	0.00430	0.01850767	-1.99096192878285	0.00320	0.0141338	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.97	-9.95	0.00369	-1.892000	0.01702	-1.152000	0.06178	-0.742000	0.03659	0.000000	0.06391	0.000000	0.08366	0.142000	0.20019	0.1329:0.577:0.2902:0.0	12.462	0.55077	834	0.38640	.	.	.	.	.	.	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	0.02381	1840.98	34	chr8	55773664	.	A	G	1840.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.057e+00;DP=858;ExcessHet=0.0000;FS=5.688;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.06;ReadPosRankSum=0.413;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,74:141:99:0|1:55773664_A_G:1855,0,1851:55773664	20	0	1	0
chr8	66177323	66177323	-	GCG	exonic	CRH	.	nonframeshift insertion	CRH:NM_000756:exon2:c.154_155insCGC:p.P51_Q52insP,	.	.	1	1512	9	0	0	9	0.00296736	.	.	579503	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.00359425	0.0021	0	0	0.0363	0	0.0010	0	0.0009	0.0001153	3	26028	rs562792458	0.0012	0.0012	0.0012	0.0012	0.0373	0.0011	0.0011	0.0356	0.0350	0	2.654e-05	0.0013	0.0373	2.499e-05	0.0012	0.0001	0.0011	0.0009	0.0011	0.0011	0.0009	0.0012	0.0262	0.0009	0.0009	0.0226	0.0212	2.405e-05	0	6.533e-05	0.0012	0.0262	0	0	0.0002	0.0005	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1199.94	41	chr8	66177323	.	T	TGCG	1199.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.620e-01;DP=824;ExcessHet=0.0000;FS=2.182;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.00;ReadPosRankSum=-7.400e-02;SOR=1.001	GT:AD:DP:GQ:PL	0/1:29,31:60:99:1214,0,1117	20	0	1	0
chr8	66665242	66665242	C	T	exonic	VCPIP1	.	nonsynonymous SNV	VCPIP1:NM_025054:exon1:c.G1717A:p.G573S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.989	D	0.868	P	0.000	D	1.000	D	1.355	L	1.51	T	-1.028	T	0.138	T	0.651	3.745	19.02	5.3	2.627	7.744	19.323	0.206	0.0203633802704	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1374460269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.24183	T	0.244	0.24123	T	0.989	0.62824	D	0.868	0.61700	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.955	0.52871	M	1.51	0.30937	T	-0.42	0.14193	N	0.742	0.74189	-1.0285	0.20940	T	0.138	0.45508	T	10	0.5966282	0.66678	D	0.020363	0.42939	T	0.206	0.49396	0.499	0.58991	0.102598925029	0.09809	0.7004349829113856	0.69984	1.1523092919	0.79246	0.802717030048	0.82377	T	0.030759	0.21729	T	0.00178112	0.51899	T	-0.235218	0.51265	T	0.937988042831421	0.60822	D	0.946005	0.79398	D	0.21131225	0.43453	0.25939173	0.51687	0.21131225	0.43452	0.25939173	0.51686	-1.746	0.02353	T	.	.	0.296	0.52655	B	.	.	4.211397	0.63633	24.6	0.99654049544999979	0.77505	0.99135	0.91741	D	AEFDBCI	0.915304	0.87989	D	0.684371633839212	0.78609	6.906095	0.709175581784786	0.83074	7.927616	1.0	0.98316	0.608746	0.35421	0	0.516746	0.08562	0	0.731467	0.93227	0	0.536845	0.12434	2	.	.	5.3	5.3	0.74745	7.811000	0.84631	7.734000	0.67822	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.323	0.94239	653	0.62661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2658.98	34	chr8	66665242	.	C	T	2658.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.27;DP=903;ExcessHet=0.0000;FS=3.939;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.85;ReadPosRankSum=-9.480e-01;SOR=0.800	GT:AD:DP:GQ:PL	0/1:111,96:207:99:2673,0,2954	20	0	1	0
chr8	102560795	102560803	AGCCCCTGC	0	exonic	ODF1	.	.	.	.	.	430	603	23	0	466	489	0.0187144	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	1772.07	37	chr8	102560795	.	AGCCCCTGC	A,*	1772.07	.	AC=1,8;AF=0.025,0.200;AN=40;BaseQRankSum=-7.460e-01;DP=2088;ExcessHet=5.0238;FS=4.266;InbreedingCoeff=-0.2250;MLEAC=1,8;MLEAF=0.025,0.200;MQ=60.00;MQRankSum=0.00;QD=1.43;ReadPosRankSum=1.05;SOR=1.000	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,48,0:116:99:0|1:102560795_AGCCCCTGC_A:1785,0,2710,1990,2855,4845:102560795	11	0	1	1
chr8	102560804	102560814	AACCCGTGCAG	0	exonic	ODF1	.	.	.	.	.	433	610	23	0	456	479	0.0185036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	1772.07	37	chr8	102560804	.	AACCCGTGCAG	A,*	1772.07	.	AC=1,8;AF=0.025,0.200;AN=40;BaseQRankSum=-9.630e-01;DP=1919;ExcessHet=5.0238;FS=4.266;InbreedingCoeff=-0.2250;MLEAC=1,8;MLEAF=0.025,0.200;MQ=60.00;MQRankSum=0.00;QD=1.43;ReadPosRankSum=0.936;SOR=0.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,48,0:116:99:0|1:102560795_AGCCCCTGC_A:1785,0,2710,1990,2855,4845:102560795	11	0	1	1
chr8	120451294	120451294	A	T	exonic	MTBP	.	nonsynonymous SNV	MTBP:NM_022045:exon4:c.A397T:p.N133Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.939	D	0.000	D	0.976	D	2.125	M	.	.	-0.363	T	0.335	T	0.488	3.615	18.40	4.3	0.889	3.446	11.31	0.189	0.0170271757221	.	0.00119808	0.0006	0	8.667e-05	0	0	1.504e-05	0.0011	0.0041	0.0004981	77	154602	rs566600503	0.0003	0.0003	0.0001	0.0004	0.0047	0.0002	0.0002	0.0035	0.0034	0	0	0	0	0	0.0047	8.998e-06	0.0002	0.0039	0.0001	0.0001	3.854e-05	0.0002	0.0033	6.506e-05	5.318e-05	0.0021	0.0017	0	0	0	0	0	0	0	0	0	0.0033	0.003	0.68238	D	0.01	0.65728	D	0.977	0.58535	D	0.803	0.58300	P	0.000025	0.55875	D	0.151389	0.976164	0.39252	D	2.595	0.75868	M	.	.	.	-3.5	0.68178	D	0.485	0.51940	-0.3633	0.73165	T	0.335	0.70174	T	9	0.008321643	0.00189	T	0.017027	0.38558	T	0.189	0.46613	0.19	0.10039	0.540879910095	0.53741	0.21687305361920275	0.21603	0.21605900711	0.24131	0.445549696684	0.31336	T	0.458825	0.79665	T	-0.287859	0.09852	T	-0.187739	0.55802	T	0.208607797549322	0.20880	T	0.79872	0.44372	T	0.41912085	0.62033	0.4373068	0.67154	0.41912085	0.62033	0.4373068	0.67154	-4.516	0.31097	T	.	.	0.140	0.30739	B	.	.	3.591748	0.50690	23.0	0.99396767965558863	0.62610	0.95971	0.66952	D	AEFGBI	0.227478	0.35128	N	0.437241705089528	0.63482	4.582911	0.380868145923304	0.60387	4.225574	0.999944125269382	0.47345	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.48	4.3	0.50540	3.450000	0.52720	4.516000	0.43668	0.743000	0.86499	0.942000	0.32722	0.217000	0.23687	0.998000	0.85391	0.8475:0.1525:0.0:0.0	11.31	0.48594	657	0.62240	MDM2-binding protein, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	685.98	33	chr8	120451294	.	A	T	685.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.320e-01;DP=771;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.55;ReadPosRankSum=0.908;SOR=0.673	GT:AD:DP:GQ:PL	0/1:35,30:65:99:700,0,879	20	0	1	0
chr8	132010871	132010871	G	C	exonic	EFR3A	.	nonsynonymous SNV	EFR3A:NM_001323553:exon23:c.G2334C:p.K778N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	1.0	D	0.997	D	0.000	D	1.000	D	1.115	L	1.39	T	-1.032	T	0.165	T	0.358	3.812	19.36	6.02	2.857	7.403	19.525	0.153	0.0112115321271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.09291	T	0.331	0.18505	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.045609	1	0.81001	D	1.5	0.37844	L	1.39	0.33842	T	-1.42	0.34992	N	0.644	0.66187	-1.0316	0.19937	T	0.165	0.50323	T	10	0.3977828	0.55351	T	0.011212	0.28600	T	0.153	0.40148	0.323	0.30387	0.671013503938	0.66823	0.5213184564664413	0.52054	0.403179438654	0.41262	0.826878428459	0.86083	D	0.01412	0.19191	T	-0.0782944	0.39993	T	-0.350241	0.39179	T	0.901563823223114	0.55432	D	0.946205	0.79443	D	0.38296613	0.59530	0.24603723	0.50104	0.38296613	0.59531	0.24603723	0.50103	-8.505	0.64462	D	.	.	0.885	0.86088	P	.;.;.	.;.;.	4.272375	0.65018	24.8	0.9978335014773505	0.86955	0.98829	0.87402	D	AEFGBI	0.883251	0.81200	D	0.678002983385951	0.78189	6.822127	0.731837545398783	0.84796	8.392965	0.999999999974235	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.727631	0.95156	0	.	.	6.02	6.02	0.97559	7.394000	0.79135	4.508000	0.43636	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.525	0.95196	871	0.31377	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	690.63	84	chr8	132010871	.	G	C	690.63	.	AC=7;AF=0.250;AN=28;BaseQRankSum=-3.452e+00;DP=3010;ExcessHet=2.5830;FS=194.769;InbreedingCoeff=-0.3327;MLEAC=9;MLEAF=0.321;MQ=60.00;MQRankSum=0.00;QD=0.65;ReadPosRankSum=1.12;SOR=12.620	GT:AD:DP:GQ:PL	0/1:113,45:158:99:181,0,1814	7	0	7	7
chr8	132832298	132832298	G	A	exonic	PHF20L1	.	nonsynonymous SNV	PHF20L1:NM_001277196:exon14:c.G1730A:p.R577Q	.	.	435	1073	13	1	0	15	0.00694123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.999	D	0.905	P	0.976	N	1.000	D	1.61	L	1.43	T	-1.121	T	0.107	T	0.651	4.574	24.8	5.56	2.781	5.576	13.801	0.186	0.0168963482274	0.0066	0.00299521	0.0058	0.0013	0.0032	0.0001	0.0035	0.0083	0.0044	0.0041	0.0057891	895	154602	rs184113048	0.0069	0.0070	0.0070	0.0068	0.0077	0.0068	0.0067	0.0071	0.0071	0.0014	0.0030	0.0306	2.522e-05	0.0031	0.0077	0.0072	0.0071	0.0046	0.0055	0.0055	0.0057	0.0053	0.0075	0.0052	0.0050	0.0069	0.0067	0.0016	0.0164	0.0043	0.0288	0.0002	0.0023	0.0034	0.0075	0.0090	0.0068	0.024	0.47745	D	0.552	0.10607	T	0.999	0.77913	D	0.805	0.64260	P	0.976270	0.07811	N	1.011250	0.956549	0.81001	D	1.67	0.42885	L	1.43	0.33189	T	-1.01	0.26639	N	0.508	0.54932	-1.1205	0.02300	T	0.107	0.38906	T	10	0.005623758	0.00125	T	0.016896	0.38370	T	0.186	0.46104	.	.	0.252829632966	0.24901	0.31513647659765553	0.31426	1.0380228498	0.75678	0.527626991272	0.42700	T	0.042495	0.26201	T	-0.308384	0.07891	T	-0.210621	0.53635	T	0.0264858954856633	0.01472	T	0.952605	0.81930	D	0.14426984	0.33123	0.07464005	0.16349	0.14426984	0.33122	0.07464005	0.16348	-5.518	0.42036	T	.	.	0.140	0.41693	B	.;.;.;.	.;.;.;.	4.849847	0.79257	27.1	0.99952916899670441	0.99957	0.93226	0.57654	D	AEFGBI	0.657627	0.62919	D	0.583426757808675	0.72142	5.759171	0.618176375016445	0.76261	6.458329	0.999999951649826	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.56	5.56	0.83678	5.646000	0.67590	11.891000	0.99093	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8469:0.1531	13.801	0.62692	874	0.30607	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1315.98	42	chr8	132832298	.	G	A	1315.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.413;DP=921;ExcessHet=0.0000;FS=1.330;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.14;ReadPosRankSum=0.404;SOR=0.618	GT:AD:DP:GQ:PL	0/1:83,61:144:99:1330,0,1904	20	0	1	0
chr8	143429787	143429789	TGG	-	exonic	MAFA	.	nonframeshift deletion	MAFA:NM_201589:exon1:c.618_620del:p.H208del,	.	.	264	254	1	13	990	1017	0.0504673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	51136.5	54	chr8	143429783	.	ATGGTGG	ATGG,A	51136.5	.	AC=38,4;AF=0.905,0.095;AN=42;BaseQRankSum=1.21;DP=1755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=38,4;MLEAF=0.905,0.095;MQ=60.00;MQRankSum=0.00;QD=34.47;ReadPosRankSum=0.693;SOR=0.738	GT:AD:DP:GQ:PL	1/1:0,44,0:44:99:1927,133,0,1927,133,1927	0	17	0	0
chr8	143569711	143569711	G	T	exonic	MROH6	.	nonsynonymous SNV	MROH6:NM_001100878:exon8:c.C1288A:p.L430M,	.	.	375	1143	4	0	0	4	0.00174672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.595	P	0.177	B	0.001	N	1.000	D	0.97	L	0.88	T	-1.105	T	0.074	T	0.169	2.004	12.66	3.92	0.962	1.387	11.755	0.021	.	0.0010	0.00199681	0.0052	0.0001	0.0015	0	0.0577	0.0031	0.0185	0.0002	0.004172	645	154602	rs187831058	0.0029	0.0029	0.0029	0.0029	0.0036	0.0028	0.0028	0.0024	0.0021	0.0001	0.0011	0.0042	0	0.0555	0.0036	0.0008	0.0025	0.0003	0.0055	0.0055	0.0030	0.0081	0.0018	0.0052	0.0051	0.0015	0.0014	0.0001	0	0.0012	0.0040	0	0.0626	0.0034	0.0018	0.0047	0.0004	0.25	0.17126	T	0.123	0.35582	T	0.595	0.39190	P	0.177	0.35687	B	0.001144	0.00745	N	11.323700	1	0.81001	D	1.61	0.41143	L	0.88	0.46028	T	-0.22	0.10480	N	0.338	0.37923	-1.1052	0.03517	T	0.074	0.29897	T	10	0.0033750534	0.00059	T	.	.	.	0.069	0.20116	.	.	0.112648838833	0.10856	0.14268485541226306	0.14191	0.142006430372	0.16011	0.711775958538	0.68850	T	0.003154	0.02556	T	-0.385236	0.02886	T	-0.326661	0.41839	T	0.022385635818221	0.00952	T	.	.	.	0.08276086	0.19080	0.10165588	0.24343	0.08276086	0.19080	0.10165588	0.24342	-7.409	0.56968	T	.	.	0.145	0.32005	B	.	.	3.103582	0.41837	21.4	0.98196463761777897	0.39079	0.50838	0.28756	D	AEFDGBHCI	0.226506	0.35044	N	-0.145606238447365	0.35421	2.034373	-0.0673499359484406	0.36749	2.142636	0.99999999999926	0.74766	0.443343	0.08805	1	0.609123	0.50646	0	0.666236	0.60216	0	0.618803	0.45993	0	.	.	4.83	3.92	0.44525	0.434000	0.21212	.	.	0.670000	0.69193	0.000000	0.06391	1.000000	0.68203	0.971000	0.54645	0.0:0.0:0.8156:0.1844	11.755	0.51138	952	0.10565	.	.	.	.	.	rs187831058	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	909.98	41	chr8	143569711	.	G	T	909.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=795;ExcessHet=0.0000;FS=1.976;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.82;ReadPosRankSum=1.49;SOR=1.009	GT:AD:DP:GQ:PL	0/1:36,35:71:99:924,0,840	20	0	1	0
chr8	143924593	143924593	C	T	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon31:c.G5294A:p.R1765H	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	0	1519	2	1	0	4	0.00131492	.	.	636739	Inborn_genetic_diseases|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.997	D	0.039	U	0.657	N	1.245	L	-3.04	D	0.687	D	0.805	D	0.379	1.266	10.13	4.2	2.181	2.523	16.336	0.337	0.56053869197	.	.	0	0	0	0	0	0	0	0	.	.	.	rs782762319	1.002e-05	1.368e-05	1.133e-05	8.681e-06	0.0001	5.82e-06	4.55e-06	5.352e-05	3.494e-05	0	0	0	0.0001	0	0	5.523e-06	3.433e-05	1.241e-05	6.583e-06	6.57e-06	1.287e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.006	0.61437	D	0.013	0.63109	D	0.999	0.90584	D	0.995	0.86255	D	0.038735	0.24252	U	0.275863	0.657281	0.30480	N	2.045	0.56016	M	-3.04	0.92357	D	-1.13	0.29933	N	0.534	0.59901	0.687	0.93008	D	0.805	0.93421	D	10	0.51054186	0.62071	D	0.560539	0.95986	D	0.337	0.65913	0.135	0.03920	0.771858422565	0.76976	0.38790890229349145	0.38705	.	.	0.572866261005	0.49082	T	0.08029	0.36327	T	0.118	0.66150	D	-0.0685656	0.65728	T	0.198249211799896	0.20319	T	0.966803	0.87909	D	0.09384753	0.22050	0.099493325	0.23757	0.09384753	0.22050	0.099493325	0.23757	-6.859	0.53720	T	0.3029111643540685	0.40038	0.118	0.24599	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.664430	0.74481	26.2	0.99543427119837857	0.70648	0.81787	0.41122	D	AEFBCI	0.272274	0.38794	N	0.340908900690821	0.58262	3.997368	0.263880918528326	0.53442	3.513231	0.999941759716073	0.47345	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.2	4.2	0.48814	4.026000	0.56942	.	.	0.565000	0.28586	0.996000	0.39380	1.000000	0.68203	0.536000	0.29845	0.0:1.0:0.0:0.0	16.336	0.82897	970	0.06235	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2282.98	53	chr8	143924593	.	C	T	2282.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.130e-01;DP=1223;ExcessHet=0.0000;FS=1.155;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.61;ReadPosRankSum=0.154;SOR=0.600	GT:AD:DP:GQ:PL	0/1:86,95:183:99:2297,0,1976	20	0	1	0
chr8	143986135	143986135	C	T	exonic	PARP10	.	nonsynonymous SNV	PARP10:NM_001317895:exon1:c.G137A:p.R46H	.	.	399	1121	2	0	0	2	0.000891266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.007	B	0.003	B	0.832	N	1.000	N	0	N	3.41	T	-0.996	T	0.032	T	0.275	0.748	7.967	-4.68	-0.620	-0.415	7.805	0.011	0.00530851611353	0.0002	.	0.0001	0	0	0	0	0.0002	0	0	8.41e-05	13	154602	rs200680602	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0	0.0002	0	0	0	0.0003	0.0002	0.0002	0	0.0002	0.0002	0.0002	0.0001	0.0005	0.0001	0.0001	0.0002	0.0002	2.408e-05	0	0.0005	0	0	0	0	0.0003	0	0	0.626	0.22224	T	0.292	0.20877	T	0.007	0.14184	B	0.003	0.08700	B	0.831666	0.06945	N	1.094130	0.999962	0.18878	N	0.235	0.09667	N	3.41	0.33189	T	-0.71	0.36980	N	0.169	0.17966	-0.9957	0.31109	T	0.032	0.13723	T	10	0.029503018	0.01076	T	0.005309	0.13587	T	0.011	0.01250	.	.	0.28492961333	0.28089	0.31694499901165285	0.31607	0.649232544592	0.58242	0.478252053261	0.35815	T	0.025107	0.36090	T	-0.430377	0.01474	T	-0.562496	0.16143	T	0.0601691033235948	0.07196	T	0.647735	0.29402	T	0.03070018	0.02780	0.04384523	0.05547	0.03070018	0.02779	0.04384523	0.05546	-5.435	0.41255	T	.	.	0.141	0.49147	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.124106	0.15103	11.59	0.93832963680026216	0.23821	0.05629	0.11538	N	ALL	0.065590	0.12800	N	-1.40920599424375	0.02557	0.1130775	-1.45137122097268	0.02758	0.1274228	0.999999999998811	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.576033	0.28219	0	0.71	0.69187	0	.	.	4.36	-4.68	0.03070	-0.444000	0.06926	.	.	-0.184000	0.09925	0.535000	0.27228	0.003000	0.18671	0.540000	0.29938	0.0:0.1905:0.1385:0.6709	7.805	0.28361	970	0.06235	PARP-10, RNA recognition motif 1 and 2;PARP-10, RNA recognition motif 1 and 2;PARP-10, RNA recognition motif 1 and 2;PARP-10, RNA recognition motif 1 and 2;PARP-10, RNA recognition motif 1 and 2;PARP-10, RNA recognition motif 1 and 2;PARP-10, RNA recognition motif 1 and 2;PARP-10, RNA recognition motif 1 and 2;PARP-10, RNA recognition motif 1 and 2;PARP-10, RNA recognition motif 1 and 2;PARP-10, RNA recognition motif 1 and 2;PARP-10, RNA recognition motif 1 and 2;PARP-10, RNA recognition motif 1 and 2;PARP-10, RNA recognition motif 1 and 2;PARP-10, RNA recognition motif 1 and 2	.	.	.	.	.	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	0.02381	1439.98	40	chr8	143986135	.	C	T	1439.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.78;DP=839;ExcessHet=0.0000;FS=0.742;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.26;ReadPosRankSum=0.423;SOR=0.804	GT:AD:DP:GQ:PL	0/1:46,55:101:99:1454,0,1032	20	0	1	0
chr8	144107758	144107758	C	G	exonic	WDR97	.	nonsynonymous SNV	WDR97:NM_001316309:exon1:c.C8G:p.A3G,	.	.	421	1084	17	0	0	17	0.00778032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	0.317	N	1.000	N	.	.	-0.01	T	-0.910	T	0.153	T	0.067	1.936	12.43	1.09	0.071	-0.344	5.011	0.046	0.0543548204991	.	0.00219649	0.0024	0	0.0054	0	0	0.0022	0.0076	0.0025	0.0007374	114	154602	rs190983697	0.0052	0.0046	0.0055	0.0050	0.0105	0.0050	0.0050	0.0080	0.0072	0.0006	0.0015	0	0	0.0386	0.0105	0.0037	0.0045	0.0023	0.0052	0.0052	0.0036	0.0070	0.0037	0.0049	0.0048	0.0033	0.0032	0.0006	0	0.0014	0	0	0.0439	0.0170	0.0037	0.0071	0.0021	0.015	0.52492	D	0.069	0.43913	T	.	.	.	.	.	.	0.317280	0.04052	N	1.680790	1	0.08975	N	.	.	.	-0.01	0.62762	T	-0.5	0.15782	N	0.082	0.05799	-0.9103	0.46818	T	0.153	0.48291	T	7	0.0027304888	0.00042	T	0.054355	0.65824	D	0.046	0.12618	.	.	0.256793551483	0.25290	0.061702400619057574	0.06110	.	.	.	.	.	0.004014	0.03423	T	-0.585458	0.00179	T	-0.611551	0.11859	T	0.00679817641278158	0.00077	T	0.417158	0.10968	T	0.09915313	0.23397	0.08844971	0.20624	0.09915313	0.23397	0.08844971	0.20623	-3.987	0.23609	T	.	.	0.102	0.18122	B	.	.	0.343813	0.07174	3.759	0.96676548787672589	0.30682	0.16133	0.19246	N	AEFDGBHCI	0.085799	0.17395	N	-0.535270810962422	0.20947	1.108	-0.704745723588057	0.16843	0.8928796	0.999999649078095	0.74766	0.578255	0.32838	2	0.150725	0.03546	3	0.378051	0.06126	2	0.711	0.71501	0	.	.	4.33	1.09	0.19517	-0.575000	0.05953	-0.958000	0.06789	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.4663:0.4275:0.0:0.1063	5.011	0.13655	970	0.06235	.	.	.	.	.	rs190983697	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1859.98	46	chr8	144107758	.	C	G	1859.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.941e+00;DP=1055;ExcessHet=0.0000;FS=0.586;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=-3.350e-01;SOR=0.607	GT:AD:DP:GQ:PL	0/1:78,83:161:99:1874,0,1883	20	0	1	0
chr8	144258878	144258878	C	T	exonic	MROH1	.	nonsynonymous SNV	MROH1:NM_001288814:exon34:c.C3866T:p.S1289L	.	.	407	1110	3	2	0	7	0.00314324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.998	D	0.979	D	0.006	N	1.000	N	2.015	M	1.0	T	-0.853	T	0.220	T	0.323	2.852	15.50	4.28	1.948	3.175	14.252	0.107	0.0337670213489	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1005336507	0.0022	0.0022	0.0022	0.0021	0.0060	0.0021	0.0020	0.0037	0.0031	0.0011	0.0007	0.0016	0	0.0003	0.0060	0.0033	0.0016	0.0003	0.0021	0.0021	0.0021	0.0020	0.0035	0.0019	0.0018	0.0032	0.0030	0.0007	0	0.0018	0.0017	0	0.0003	0.0034	0.0035	0.0033	0.0002	0.034	0.45039	D	0.032	0.92824	D	0.997	0.73220	D	0.788	0.74454	P	0.006001	0.32354	N	0.197732	1	0.08975	N	2.015	0.55033	M	1.0	0.41392	T	-3.21	0.66206	D	0.328	0.38129	-0.8534	0.51732	T	0.220	0.58358	T	10	0.10876858	0.20263	T	0.033767	0.55213	D	0.107	0.30369	0.319	0.29741	0.110392049598	0.10638	0.3797835650580712	0.37893	0.194208701575	0.21755	0.70612347126	0.68031	T	0.028408	0.20584	T	-0.134168	0.30822	T	-0.430499	0.29879	T	0.978583574295044	0.72399	D	0.928507	0.73679	D	0.15568125	0.35173	0.14618824	0.34642	0.15568125	0.35172	0.14618824	0.34641	-3.475	0.21253	T	.	.	0.109	0.21877	B	.;.;.;.	.;.;.;.	3.032701	0.40627	21.2	0.99771708899876155	0.86003	0.73150	0.35785	D	AEFGI	0.192734	0.31988	N	0.258045633147015	0.54039	3.570457	0.150365078966404	0.47162	2.950548	0.61949960253286	0.21873	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	4.28	4.28	0.50183	1.745000	0.37904	1.415000	0.26314	0.599000	0.40250	0.003000	0.16062	0.001000	0.17328	0.370000	0.26111	0.0:1.0:0.0:0.0	14.252	0.65575	940	0.13648	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	901.98	33	chr8	144258878	.	C	T	901.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=756;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.26;ReadPosRankSum=0.436;SOR=0.664	GT:AD:DP:GQ:PL	0/1:33,35:68:99:916,0,800	20	0	1	0
chr8	144394890	144394890	G	A	exonic	CPSF1	.	stopgain	CPSF1:NM_013291:exon30:c.C3406T:p.R1136X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	8.694	41	4.86	2.424	3.978	13.840	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.851e-06	6.84e-06	6.816e-06	6.887e-06	2.988e-05	3.47e-06	2.53e-06	3.85e-06	1.44e-06	2.988e-05	0	0	0	0	0	4.499e-06	3.315e-05	2.32e-05	6.572e-06	6.567e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.428	0.46742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.528224	0.95112	D	0.520981	0.95039	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	11.938650	0.99963	56	0.99771214854560786	0.85918	0.85977	0.45176	D	AEFGBCI	0.126186	0.24301	N	0.773836204432098	0.84445	8.290049	0.628242141090879	0.77000	6.59574	0.934860974000259	0.27189	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.86	4.86	0.62624	2.313000	0.43395	9.860000	0.82050	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.900000	0.43643	0.0:0.0:1.0:0.0	13.840	0.62925	940	0.13648	Cleavage/polyadenylation specificity factor, A subunit, C-terminal;Cleavage/polyadenylation specificity factor, A subunit, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1575.98	42	chr8	144394890	.	G	A	1575.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.944;DP=966;ExcessHet=0.0000;FS=2.660;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.60;ReadPosRankSum=-5.340e-01;SOR=0.473	GT:AD:DP:GQ:PL	0/1:44,57:101:99:1590,0,1192	20	0	1	0
chr9	117371	117371	C	0	exonic	FOXD4	.	.	.	.	.	494	340	430	130	128	818	0.50365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	10566.34	45	chr9	117371	.	C	G,*	10566.34	.	AC=21,5;AF=0.500,0.119;AN=42;BaseQRankSum=1.69;DP=683;ExcessHet=1.5101;FS=0.547;InbreedingCoeff=-0.0096;MLEAC=21,5;MLEAF=0.500,0.119;MQ=45.38;MQRankSum=-4.449e+00;QD=18.70;ReadPosRankSum=-5.950e-01;SOR=0.750	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:9,10,0:19:99:.:.:288,0,270,315,300,615	3	5	9	0
chr9	5089776	5089776	C	G	exonic	JAK2	.	nonsynonymous SNV	JAK2:NM_001322204:exon17:c.C2227G:p.L743V	Erythrocytosis, somatic;Leukemia, acute myeloid, somatic;Myelofibrosis, somatic;Polycythemia vera, somatic;Thrombocythemia 3, Autosomal dominant, Somatic mutation	.	0	1520	2	0	0	2	0.000657462	.	.	783422	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.31	T	0.124	B	0.092	B	0.001	D	1.000	D	0.82	L	-1.66	D	-0.635	T	0.334	T	0.217	1.761	11.85	3.4	1.195	2.410	9.622	0.142	0.0450615593653	7.7e-05	0.000599042	0.0005	0	0	0	0.0065	0.0003	0.0011	0	0.0004269	66	154602	rs201551707	0.0002	0.0002	0.0002	0.0002	7.863e-05	0.0002	0.0002	4.553e-05	4.138e-05	0	2.319e-05	0	7.863e-05	0.0050	0	5.701e-05	0.0003	3.537e-05	0.0005	0.0005	0.0003	0.0007	0.0004	0.0004	0.0004	6.842e-05	4.24e-05	0	0	0	0	0.0004	0.0068	0	0.0001	0	0	0.224	0.18691	T	0.429	0.13752	T	0.124	0.26825	B	0.092	0.30031	B	0.000824	0.41547	D	0.220621	0.999997	0.58761	D	0.5	0.13406	N	-1.66	0.82715	D	-0.67	0.19297	N	0.436	0.47487	-0.6347	0.63371	T	0.334	0.70084	T	10	0.011414528	0.00250	T	0.045062	0.61798	D	0.142	0.37995	.	.	0.742884717384	0.74057	0.287134496433068	0.28626	0.497661419825	0.48262	0.773985803127	0.78022	T	0.536153	0.84035	D	-0.253657	0.13654	T	-0.296161	0.45128	T	0.0446898236610311	0.04546	T	0.877812	0.59215	D	0.30286038	0.53160	0.14198224	0.33794	0.26758125	0.49829	0.14001217	0.33386	-4.706	0.33477	T	0.17991224231891148	0.23129	0.082	0.08657	B	.	.	3.116819	0.42060	21.5	0.9908196954046592	0.51978	0.82143	0.41416	D	AEFDBCI	0.520232	0.54517	D	-0.207491783753612	0.32826	1.855621	-0.0554323453075953	0.37256	2.178922	0.83392394327002	0.24743	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.669	0.65921	0	.	.	5.28	3.4	0.38031	3.038000	0.49473	.	.	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.1427:0.7836:0.0:0.0737	9.622	0.38891	670	0.60992	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain|Janus kinase 2, 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	0.02381	567.98	34	chr9	5089776	.	C	G	567.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.600e-02;DP=778;ExcessHet=0.0000;FS=1.887;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.68;ReadPosRankSum=-2.350e-01;SOR=0.462	GT:AD:DP:GQ:PL	0/1:55,30:85:99:582,0,1304	20	0	1	0
chr9	5522576	5522576	G	-	exonic	PDCD1LG2	.	frameshift deletion	PDCD1LG2:NM_025239:exon2:c.30delG:p.E11Nfs*7,	.	.	431	1065	25	1	0	27	0.0125174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	0.00199681	0.0020	0.0003	0.0006	0	0.0002	0.0026	0.0033	0.0033	0.0016817	260	154602	rs567501802	0.0016	0.0016	0.0014	0.0017	0.0116	0.0015	0.0015	0.0094	0.0086	0.0002	0.0010	0.0113	0	0.0002	0.0116	0.0013	0.0022	0.0037	0.0015	0.0015	0.0014	0.0015	0.0039	0.0013	0.0012	0.0026	0.0021	0.0002	0.0011	0.0014	0.0118	0	9.427e-05	0.0204	0.0017	0.0033	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	870.94	34	chr9	5522575	.	TG	T	870.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.940e-01;DP=770;ExcessHet=0.0000;FS=0.914;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.17;ReadPosRankSum=1.40;SOR=0.863	GT:AD:DP:GQ:PL	0/1:48,30:78:99:885,0,1547	20	0	1	0
chr9	12821696	12821696	T	C	exonic	LURAP1L	.	nonsynonymous SNV	LURAP1L:NM_203403:exon2:c.T623C:p.I208T,	.	.	429	1067	26	0	0	26	0.012037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.0	B	0.002	B	0.573	N	1.000	N	0.695	N	0.84	T	-1.035	T	0.050	T	0.058	0.923	8.760	4.45	0.956	1.783	6.187	0.074	.	0.0065	0.00658946	0.0067	0.0021	0.0056	0	0.0038	0.0081	0.0088	0.0096	0.0067011	1036	154602	rs61755264	0.0083	0.0083	0.0082	0.0085	0.0137	0.0082	0.0081	0.0113	0.0104	0.0012	0.0057	0.0159	2.519e-05	0.0040	0.0137	0.0089	0.0077	0.0092	0.0052	0.0052	0.0053	0.0050	0.0078	0.0049	0.0047	0.0072	0.0070	0.0015	0	0.0054	0.0127	0	0.0017	0.0068	0.0078	0.0099	0.0058	0.067	0.35918	T	0.253	0.23501	T	.	.	.	.	.	.	0.572551	0.05488	N	1.264020	1	0.08975	N	.	.	.	0.84	0.47477	T	0.16	0.05217	N	0.093	0.07262	-1.0354	0.18731	T	0.050	0.21182	T	10	0.005319059	0.00117	T	.	.	.	0.074	0.21613	.	.	0.3085936734	0.30458	0.07636395279697009	0.07572	0.0354923742789	0.03747	0.362109303474	0.19693	T	.	.	.	-0.629934	0.00096	T	-0.670526	0.07575	T	0.00269191200996451	0.00028	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.04889	B	.	.	0.878504	0.12517	9.046	0.93405647518646784	0.23166	0.14882	0.18634	N	AEFDBI	0.196794	0.32375	N	-0.566462906350943	0.19970	1.049335	-0.465356978719384	0.23114	1.258878	0.999961960060817	0.48965	0.533608	0.22052	0	0.573888	0.26702	0	0.618467	0.43123	0	0.638833	0.57524	0	.	.	5.59	4.45	0.53365	1.991000	0.40348	0.178000	0.15598	-0.115000	0.14600	0.345000	0.25717	0.208000	0.23622	0.818000	0.38543	0.0:0.1423:0.1354:0.7223	6.187	0.19718	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	0.04762	6166.11	34	chr9	12821696	.	T	C	6166.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.78;DP=1186;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.97;ReadPosRankSum=1.75;SOR=0.751	GT:AD:DP:GQ:PL	0/1:155,117:272:99:3046,0,3664	19	0	2	0
chr9	17415849	17415849	A	G	exonic	CNTLN	.	nonsynonymous SNV	CNTLN:NM_001365029:exon17:c.A2855G:p.Q952R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.557	P	0.299	B	.	.	0.994	N	2.075	M	2.53	T	-1.074	T	0.049	T	0.185	0.674	7.609	3.12	1.947	0.380	8.279	0.040	0.00331855763938	0.0037	0.000199681	0.0033	0.0006	0.0004	0.0001	0.0012	0.0054	0.0045	0.0012	0.0033311	515	154602	rs41268971	0.0045	0.0046	0.0046	0.0045	0.0055	0.0044	0.0044	0.0054	0.0054	0.0006	0.0006	0.0016	0.0001	0.0015	0	0.0055	0.0033	0.0011	0.0027	0.0027	0.0031	0.0023	0.0051	0.0025	0.0024	0.0047	0.0045	0.0009	0	0.0007	0.0023	0	0.0009	0	0.0051	0.0014	0.0004	0.049	0.39820	D	0.33	0.18560	T	0.557	0.38282	P	0.224	0.37970	B	.	.	.	.	0.999972	0.18612	N	2.24	0.63355	M	2.26	0.17596	T	-0.31	0.12099	N	0.196	0.21580	-1.0736	0.08639	T	0.049	0.20829	T	9	0.006874472	0.00156	T	0.003319	0.07390	T	0.040	0.10527	.	.	0.0401082797425	0.02173	0.07315621065529385	0.07252	.	.	0.340176820755	0.16465	T	.	.	.	-0.568721	0.00225	T	-0.578674	0.14663	T	0.0296378005295992	0.01933	T	0.608739	0.23025	T	.	.	.	.	.	.	.	.	-3.526	0.16798	T	.	.	0.085	0.10014	B	.	.	1.836113	0.23329	15.97	0.98034917253859333	0.37743	0.09860	0.15519	N	AEFI	0.090371	0.18312	N	-0.329407936429418	0.28035	1.543073	-0.367065973227395	0.25986	1.433	0.176133071420884	0.17806	0.638212	0.43195	0	0.573888	0.26702	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	4.36	3.12	0.34986	0.502000	0.22302	4.094000	0.41823	0.756000	0.94297	0.014000	0.18986	0.937000	0.28687	0.066000	0.16387	0.823:0.0:0.0:0.177	8.279	0.31052	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	543.98	34	chr9	17415849	.	A	G	543.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.757e+00;DP=759;ExcessHet=0.0000;FS=3.317;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.77;ReadPosRankSum=1.84;SOR=0.633	GT:AD:DP:GQ:PL	0/1:42,28:70:99:558,0,1155	20	0	1	0
chr9	19058600	19058600	C	A	exonic	HAUS6	.	nonsynonymous SNV	HAUS6:NM_001270890:exon16:c.G2062T:p.D688Y	.	.	442	1075	5	0	0	5	0.00232019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.958	D	0.568	P	0.189	N	1.000	N	1.445	L	1.61	T	-1.028	T	0.056	T	0.134	0.718	7.824	-1.82	-0.229	-0.216	1.506	0.027	.	0.0052	0.00279553	0.0071	0.0021	0.0055	0	0.0074	0.0106	0.0102	0.0010	0.0006727	104	154602	rs113547478	0.0075	0.0075	0.0076	0.0073	0.0129	0.0073	0.0073	0.0105	0.0097	0.0014	0.0055	0.0214	0	0.0066	0.0129	0.0082	0.0069	0.0007	0.0058	0.0058	0.0062	0.0054	0.0077	0.0055	0.0054	0.0072	0.0069	0.0017	0	0.0077	0.0219	0	0.0056	0.0170	0.0077	0.0109	0.0012	0.018	0.51248	D	0.03	0.54159	D	0.958	0.54977	D	0.568	0.49807	P	0.189189	0.03238	N	1.538370	1	0.08975	N	1.735	0.44892	L	1.61	0.28391	T	-3.98	0.77717	D	0.202	0.22357	-1.0277	0.21200	T	0.056	0.23527	T	10	0.0056252778	0.00125	T	.	.	.	0.027	0.05988	.	.	0.239305524855	0.23518	0.25479023368151005	0.25393	0.140115118664	0.15791	0.231105089188	0.02051	T	0.00779	0.39775	T	-0.591899	0.00163	T	-0.616884	0.11431	T	0.0498516026703975	0.05475	T	0.729327	0.34443	T	0.061745796	0.12821	0.11337768	0.27361	0.061745796	0.12821	0.11337768	0.27361	-6.278	0.48548	T	.	.	0.100	0.20586	B	.;.	.;.	1.745122	0.22204	15.52	0.97465567261611485	0.34105	0.05350	0.11207	N	AEFGBI	0.053981	0.09774	N	-0.663108906166838	0.17079	0.8758265	-0.829971606891244	0.13770	0.7161314	0.0146745814687158	0.12625	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.04	-1.82	0.07433	-0.150000	0.10174	-0.501000	0.08802	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.095000	0.18041	0.142:0.3006:0.1387:0.4187	1.506	0.02336	616	0.66398	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1350.11	43	chr9	19058600	.	C	A	1350.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.439e+00;DP=825;ExcessHet=0.1072;FS=9.793;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=38.80;MQRankSum=1.69;QD=20.77;ReadPosRankSum=0.851;SOR=0.136	GT:AD:DP:GQ:PL	0/1:14,26:40:99:880,0,425	19	0	2	0
chr9	33558090	33558090	T	C	exonic	ANKRD18B	.	nonsynonymous SNV	ANKRD18B:NM_001353432:exon12:c.T2174C:p.M725T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	.	.	.	.	.	.	0.999	N	.	.	3.16	T	-0.985	T	0.040	T	0.115	-0.066	3.679	-1.22	-0.317	1.150	4.542	0.024	0.00914420225022	.	.	1.18e-05	0	0	0	0	0	0	7.668e-05	6.5e-06	1	154602	rs747317874	1.373e-06	1.368e-06	0	2.76e-06	2.342e-05	2.3e-07	9e-08	3.89e-06	1.46e-06	0	0	0	0	0	0	0	0	2.342e-05	6.571e-06	6.567e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.162	0.29554	T	0.099	0.38891	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.87	0.49600	L	1.74	0.26301	T	-1.73	0.41809	N	0.19	0.20793	-0.9847	0.33903	T	0.040	0.17277	T	5	0.14289233	0.27136	T	0.009144	0.24036	T	0.024	0.04979	0.314	0.28935	0.166414681773	0.16258	0.11042002398748951	0.10971	0.0256098080643	0.02620	0.68451488018	0.64917	T	0.011616	0.22968	T	-0.256462	0.13318	T	-0.606167	0.12298	T	0.0772843540493079	0.09636	T	0.436756	0.12454	T	0.0519542	0.09618	0.107041135	0.25763	0.0519542	0.09618	0.107041135	0.25762	-2.868	0.08828	T	.	.	0.281	0.51367	B	.;.	.;.	0.917375	0.12921	9.430	0.4383901506930688	0.03328	0.04432	0.10028	N	AEFI	0.039280	0.05682	N	-0.625712596427832	0.18175	0.9414695	-0.810836904907292	0.14234	0.7426396	2.63929009955344E-4	0.06244	0.615465	0.37627	0	0.573888	0.26702	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	1.72	-1.22	0.09005	1.479000	0.35061	4.873000	0.45587	0.309000	0.19094	0.999000	0.42656	0.788000	0.26838	0.174000	0.21107	0.4169:0.0:0.0:0.5831	4.542	0.11462	712	0.56465	.;.	.	.	.	.	.	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	0.02381	1173.98	38	chr9	33558090	.	T	C	1173.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.177e+00;DP=875;ExcessHet=0.0000;FS=2.397;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.36;MQRankSum=-5.111e+00;QD=10.21;ReadPosRankSum=-1.040e-01;SOR=0.476	GT:AD:DP:GQ:PL	0/1:55,60:115:99:1188,0,1186	20	0	1	0
chr9	35712861	35712866	GGTCCC	-	exonic	TLN1	.	nonframeshift deletion	TLN1:NM_006289:exon27:c.3530_3535del:p.G1177_P1179delinsA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	969.94	35	chr9	35712860	.	GGGTCCC	G	969.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.480e-01;DP=756;ExcessHet=0.0000;FS=2.606;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.64;ReadPosRankSum=1.85;SOR=0.330	GT:AD:DP:GQ:PL	0/1:22,25:47:99:984,0,828	20	0	1	0
chr9	35733409	35733409	T	C	exonic	CREB3	.	nonsynonymous SNV	CREB3:NM_006368:exon4:c.T359C:p.L120P,	.	.	432	1085	5	0	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.001	N	0.950	D	2.295	M	-1.86	D	0.443	D	0.700	D	0.532	3.212	16.76	3.62	0.768	3.688	8.684	0.413	0.198557359269	0.0002	.	0.0004	9.61e-05	0	0	0	0.0005	0.0011	0.0007	0.0003687	57	154602	rs138981526	0.0003	0.0003	0.0002	0.0003	0.0023	0.0003	0.0003	0.0013	0.0011	0.0003	0.0002	0	0	0.0001	0.0023	0.0003	0.0006	0.0006	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	9.623e-05	0	0.0004	0.0003	0	0.0002	0.0068	0.0004	0.0014	0.0002	0.0	0.91255	D	0.001	0.83351	D	.	.	.	.	.	.	0.001265	0.39594	N	0.162830	0.949627	0.37660	D	.	.	.	-1.86	0.84341	D	-3.75	0.71157	D	0.909	0.91047	0.443	0.89735	D	0.700	0.89675	D	10	0.80452466	0.79809	D	0.198557	0.86602	D	0.413	0.72404	.	.	0.920375182014	0.91957	0.48027048680303863	0.47947	0.749165256584	0.63679	0.488472253084	0.37226	T	.	.	.	-0.101895	0.36110	T	-0.0347099	0.68055	D	0.210623268406907	0.20986	T	0.679332	0.28809	T	0.8198506	0.85210	0.8081791	0.88784	0.8198506	0.85211	0.8081791	0.88785	-7.452	0.57272	T	.	.	0.643	0.70658	P	.	.	3.254565	0.44482	21.9	0.99558896403004848	0.71645	0.44723	0.27381	N	ALL	0.556675	0.56662	D	-0.117776607564711	0.36617	2.119087	-0.316015961609269	0.27581	1.531474	0.999999999968082	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.79	3.62	0.40616	3.954000	0.56414	6.194000	0.54806	-0.263000	0.06870	0.315000	0.25459	1.000000	0.68203	0.024000	0.12247	0.17:0.0:0.0:0.83	8.684	0.33389	107	0.95615	.	.	.	.	.	.	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	0.02381	2196.98	33	chr9	35733409	.	T	C	2196.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.28;DP=867;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.82;ReadPosRankSum=-8.340e-01;SOR=0.730	GT:AD:DP:GQ:PL	0/1:74,85:159:99:2211,0,1556	20	0	1	0
chr9	35906604	35906604	-	CACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCA	exonic	HRCT1	.	frameshift insertion	HRCT1:NM_001039792:exon1:c.317_318insCACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCA:p.H107Tfs*66,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.474e-06	8.085e-06	7.485e-06	9.476e-06	3.226e-05	3.99e-06	2.89e-06	2.63e-06	1.73e-06	0	3.226e-05	0	0	0	0	7.318e-06	2.214e-05	1.524e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09375	950.17	25	chr9	35906604	.	C	CCACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCA,CCACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCACCACCACCA,CCA	950.17	.	AC=1,1,1;AF=0.031,0.031,0.031;AN=32;BaseQRankSum=0.447;DP=622;ExcessHet=0.3672;FS=0.000;InbreedingCoeff=-0.1507;MLEAC=1,1,1;MLEAF=0.031,0.031,0.031;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=0.134;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:6,0,0,8:14:99:0|1:35906603_C_CA:298,316,477,316,477,477,0,161,161,137:35906603	13	0	1	5
chr9	35906604	35906604	-	CACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCACCACCACCA	exonic	HRCT1	.	frameshift insertion	HRCT1:NM_001039792:exon1:c.317_318insCACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCACCACCACCA:p.H107Tfs*69,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0077	0.0075	0.0076	0.0077	0.0113	0.0075	0.0075	0.0085	0.0082	0.0027	0.0094	0.0095	3.371e-05	0.0028	0.0113	0.0084	0.0097	0.0029	0.0079	0.0089	0.0089	0.0068	0.0112	0.0074	0.0072	0.0104	0.0101	0.0032	0.0084	0.0083	0.0088	0	0.0008	0.0341	0.0112	0.0119	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09375	950.17	25	chr9	35906604	.	C	CCACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCA,CCACCACCACCCCCACCACACCCCTCACCACCTCCACCACCACCACCACCACCA,CCA	950.17	.	AC=1,1,1;AF=0.031,0.031,0.031;AN=32;BaseQRankSum=0.447;DP=622;ExcessHet=0.3672;FS=0.000;InbreedingCoeff=-0.1507;MLEAC=1,1,1;MLEAF=0.031,0.031,0.031;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=0.134;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:6,0,0,8:14:99:0|1:35906603_C_CA:298,316,477,316,477,477,0,161,161,137:35906603	13	0	1	5
chr9	42188652	42188652	A	T	exonic	SPATA31A6	.	nonsynonymous SNV	SPATA31A6:NM_001145196:exon4:c.A2950T:p.S984C,	.	.	.	.	.	.	.	.	.	.	.	3330276	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs760927868	0.0001	9.315e-05	0.0001	9.771e-05	0.0003	8.633e-05	8.115e-05	0.0001	0.0001	0.0002	0.0003	0	0	0	0.0003	0.0001	0.0003	0	0.0003	0.0003	0.0002	0.0004	0.0019	0.0002	0.0002	0.0012	0.0010	0.0002	0	0.0019	0	0	0	0.0039	0.0001	0	0	0.012	0.54683	D	0.049	0.48336	D	.	.	.	.	.	.	0.040038	0.01872	U	2.849610	1	0.08975	N	.	.	.	3.66	0.04228	T	-2.13	0.48354	N	0.136	0.13341	-1.0254	0.21952	T	0.021	0.08917	T	10	0.07072401	0.10327	T	0.001132	0.01385	T	.	.	.	.	0.0482279557977	0.04254	0.07811452669794583	0.07747	.	.	0.389192998409	0.23556	T	0.005672	0.05119	T	-0.287484	0.09890	T	-0.650727	0.08903	T	0.456112027168274	0.31022	T	0.506749	0.16047	T	0.071757406	0.15910	0.056747094	0.10194	0.071757406	0.15910	0.056747094	0.10193	-5.232	0.39265	T	.	.	0.089	0.11989	B	.	.	0.067413	0.04768	1.386	0.95294846523026322	0.26607	0.00400	0.02002	N	AEFI	0.033677	0.04039	N	-0.671028079033772	0.16851	0.8621255	-0.976305461441966	0.10319	0.5189518	4.29989316486898E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.7	-2.96	0.05212	-0.618000	0.05674	-7.879000	0.01069	0.257000	0.18371	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.3198:0.2498:0.1837:0.2467	0.090	0.00035	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02778	391.12	33	chr9	42188652	.	A	T	391.12	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-2.977e+00;DP=475;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0287;MLEAC=1;MLEAF=0.028;MQ=29.52;MQRankSum=-3.440e-01;QD=17.78;ReadPosRankSum=-1.130e+00;SOR=0.622	GT:AD:DP:GQ:PL	0/1:7,15:22:99:404,0,166	17	0	1	3
chr9	42189270	42189270	A	G	exonic	SPATA31A6	.	nonsynonymous SNV	SPATA31A6:NM_001145196:exon4:c.A3568G:p.K1190E,	.	.	450	1070	1	1	0	3	0.00139991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.767	P	0.561	P	0.882	N	1.000	N	1.39	L	3.31	T	-1.006	T	0.083	T	0.164	1.399	10.61	0.034	0.020	0.384	3.089	0.049	0.0708469781235	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs199992322	0.0009	0.0009	0.0010	0.0009	0.0102	0.0009	0.0009	0.0093	0.0089	0.0102	0.0023	0.0004	0	0	0.0063	0.0007	0.0023	0	0.0037	0.0038	0.0035	0.0039	0.0111	0.0034	0.0033	0.0102	0.0098	0.0111	0	0.0026	0.0012	0	0	0.0208	0.0010	0.0036	0	0.131	0.26629	T	0.124	0.35455	T	.	.	.	.	.	.	0.881824	0.07240	N	1.066750	1	0.08975	N	.	.	.	3.48	0.05130	T	-2.28	0.50830	N	0.172	0.18376	-0.9780	0.35458	T	0.013	0.04938	T	10	0.0137094855	0.00290	T	0.002009	0.03642	T	.	.	.	.	0.0138822411134	0.00435	0.0370889762786495	0.03655	.	.	0.54098790884	0.44584	T	0.010853	0.09758	T	-0.275673	0.11131	T	-0.633761	0.10131	T	0.168218851089478	0.18459	T	0.513749	0.16498	T	0.15011472	0.34189	0.067406856	0.13940	0.15011472	0.34189	0.067406856	0.13940	-2.758	0.07803	T	.	.	0.093	0.14247	B	.	.	0.610252	0.09786	6.553	0.96934287398990548	0.31672	0.00513	0.02400	N	AEI	0.037057	0.05035	N	-0.997382479764593	0.08660	0.4068646	-1.1304093267943	0.07124	0.3453886	1.09678371980666E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.69	0.114	0.13945	0.921000	0.28338	-5.893000	0.01561	0.257000	0.18371	0.001000	0.13787	0.000000	0.08366	0.015000	0.10482	0.5745:0.2698:0.1557:0.0	2.812	0.05111	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02632	3981.71	206	chr9	42189270	.	A	G	3981.71	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.580e-01;DP=3370;ExcessHet=0.0000;FS=2.851;InbreedingCoeff=-0.0270;MLEAC=1;MLEAF=0.026;MQ=54.43;MQRankSum=-4.399e+00;QD=11.51;ReadPosRankSum=1.41;SOR=0.563	GT:AD:DP:GQ:PL	0/1:188,158:346:99:3995,0,5041	18	0	1	2
chr9	77529163	77529163	G	A	exonic	GNA14	.	nonsynonymous SNV	GNA14:NM_004297:exon2:c.C215T:p.T72M,	.	.	416	1102	4	0	0	4	0.00181159	.	.	2839712	Tufted_angioma_of_skin	Human_Phenotype_Ontology:HP:0012329,MONDO:MONDO:0011927,MedGen:C0346073,OMIM:607859,Orphanet:1063	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.986	D	0.899	P	0.000	D	0.999	D	1.925	M	-2.47	D	0.631	D	0.769	D	0.493	3.968	20.3	5.92	2.828	5.720	15.948	0.487	0.0675012354514	0.0014	0.000599042	0.0015	0.0007	0.0008	0	0	0.0014	0.0011	0.0044	0.0013583	210	154602	rs45466295	0.0014	0.0014	0.0013	0.0014	0.0039	0.0013	0.0013	0.0036	0.0034	0.0003	0.0005	3.826e-05	0	1.872e-05	0.0021	0.0014	0.0015	0.0039	0.0010	0.0010	0.0010	0.0010	0.0035	0.0009	0.0008	0.0022	0.0018	0.0004	0	0.0009	0	0	0	0.0068	0.0015	0.0019	0.0035	0.107	0.29554	T	0.027	0.55341	D	0.986	0.61523	D	0.899	0.63802	P	0.000002	0.62929	D	0.102410	0.999329	0.46670	D	2.61	0.76335	M	-2.47	0.88997	D	-1.99	0.45949	N	0.641	0.65330	0.631	0.92307	D	0.769	0.92157	D	10	0.027977735	0.00936	T	0.067501	0.70184	D	0.487	0.77528	.	.	0.913456571399	0.91258	0.5332898095198776	0.53253	0.3886121274	0.40126	0.716131091118	0.69483	T	0.440593	0.78544	T	-0.202195	0.20489	T	-0.062812	0.66135	T	0.0333036704550209	0.02521	T	0.973803	0.90577	D	0.092117384	0.21602	0.11331131	0.27347	0.092117384	0.21602	0.11331131	0.27346	-9.885	0.73220	D	0.5590750195115091	0.62697	0.144	0.31733	B	.	.	4.619556	0.73340	26.0	0.99895002661742249	0.96819	0.96280	0.68370	D	AEFBI	0.775152	0.70865	D	0.771517996938339	0.84298	8.248719	0.782918042658339	0.88582	9.636246	0.999987571461843	0.51787	0.643511	0.44296	0	0.573888	0.26702	0	0.688494	0.62686	0	0.668105	0.65232	0	.	.	5.92	5.92	0.95557	5.835000	0.69073	11.813000	0.96995	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.916000	0.45140	0.0:0.0:0.8645:0.1354	15.948	0.79594	888	0.27761	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3140.98	33	chr9	77529163	.	G	A	3140.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.948;DP=916;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.54;ReadPosRankSum=0.348;SOR=0.720	GT:AD:DP:GQ:PL	0/1:103,129:232:99:3155,0,2287	20	0	1	0
chr9	86018822	86018822	G	C	splicing	NAA35	NM_001321881:exon21:c.2037+1G>C;NM_024635:exon21:c.2037+1G>C;NM_001321882:exon21:c.2037+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.765	19.11	5.5	2.594	9.672	19.387	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353356	0.86736	D	0.269795	0.86563	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.192679	0.94764	34	0.9954556175864131	0.70773	0.99856	0.99854	D	AEFBI	.	.	.	1.15891206100683	0.99082	20.59108	0.998694741300778	0.98602	18.76144	0.999999999999889	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.137589	0.03823	0	0.109871	0.03346	0	0.987846	0.96420	5.5	5.5	0.81386	9.434000	0.96726	11.731000	0.94998	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:1.0:0.0	19.387	0.94553	917	0.20147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	772.26	67	chr9	86018822	.	G	C	772.26	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-2.944e+00;DP=1493;ExcessHet=2.5830;FS=140.242;InbreedingCoeff=-0.2308;MLEAC=6;MLEAF=0.158;MQ=60.00;MQRankSum=0.00;QD=1.51;ReadPosRankSum=1.32;SOR=10.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:61,26:87:99:.:.:222,0,678	12	0	7	2
chr9	86036450	86036450	C	G	exonic	GOLM1	.	nonsynonymous SNV	GOLM1:NM_016548:exon7:c.G655C:p.E219Q	.	.	.	.	.	.	.	.	.	.	.	2201680	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.53	T	0.017	B	0.011	B	0.534	N	1.000	N	0.84	L	0.88	T	-1.035	T	0.066	T	0.085	1.454	10.81	-0.078	-0.009	0.192	5.292	0.023	0.00872306391358	0.0003	.	0.0002	9.612e-05	0.0007	0.0001	0.0008	0.0002	0.0022	0	0.000194	30	154602	rs144951895	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0001	0.0001	0.0003	3.826e-05	2.519e-05	0.0016	0.0002	0.0002	0.0002	3.478e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	9.047e-05	7.011e-05	0	0	0.0002	0	0	0.0013	0	0.0002	0	0	0.665	0.04629	T	0.488	0.11621	T	0.017	0.17573	B	0.011	0.15521	B	0.534195	0.05275	N	1.240920	1	0.08975	N	0.695	0.17993	N	0.88	0.46028	T	-0.21	0.10308	N	0.069	0.04188	-1.0346	0.18983	T	0.066	0.27087	T	10	0.011405915	0.00249	T	0.008723	0.23025	T	0.023	0.04649	.	.	0.28492961333	0.28089	0.08211539779850184	0.08146	0.131701140582	0.14851	0.294428676367	0.09573	T	0.042025	0.26049	T	-0.543002	0.00321	T	-0.689801	0.06400	T	0.0170612465590239	0.00453	T	0.472453	0.14032	T	0.031908702	0.03116	0.021054942	0.00170	0.031908702	0.03116	0.021054942	0.00170	-3.504	0.16487	T	.	.	0.089	0.12084	B	.;.	.;.	0.732144	0.11013	7.672	0.95688091230475014	0.27559	0.01776	0.05568	N	AEFDBI	0.051743	0.09171	N	-1.0737408188366	0.07131	0.330318	-1.11531904983525	0.07407	0.3601797	0.950666226141609	0.27909	0.706548	0.73137	0	0.633656	0.55848	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	4.19	-0.0784	0.13049	0.314000	0.19182	1.063000	0.23738	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.3407:0.4442:0.2152	5.292	0.15041	930	0.16408	.;.	.	.	.	.	.	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	0.02381	1756.98	37	chr9	86036450	.	C	G	1756.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.331;DP=866;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.27;ReadPosRankSum=1.06;SOR=0.695	GT:AD:DP:GQ:PL	0/1:94,77:171:99:1771,0,2225	20	0	1	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.935	H	-3.73	D	1.004	D	0.941	D	0.414	2.778	15.25	2.15	0.116	2.094	10.600	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;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	16167.74	344	chr9	92080918	.	G	C	16167.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-4.447e+00;DP=7903;ExcessHet=54.0936;FS=420.103;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.24;ReadPosRankSum=1.19;SOR=16.175	GT:AD:DP:GQ:PL	0/1:219,140:372:99:887,0,3742	0	0	21	0
chr9	92656514	92656514	A	G	exonic	IPPK	.	nonsynonymous SNV	IPPK:NM_022755:exon3:c.T167C:p.V56A,	.	.	435	1086	1	0	0	1	0.000460193	.	.	2761430	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.31	T	0.939	P	0.645	P	0.000	D	1.000	D	1.65	L	1.56	T	-1.079	T	0.101	T	0.392	3.589	18.28	4.98	2.007	4.844	13.959	0.149	0.0119785267734	0.0002	.	1.647e-05	0	0	0	0	1.498e-05	0	6.057e-05	1.29e-05	2	154602	rs149366566	4.653e-05	4.72e-05	3.54e-05	5.777e-05	0.0003	3.728e-05	3.412e-05	0.0001	0.0001	0	2.236e-05	0	0	0	0.0003	3.598e-05	9.937e-05	0.0002	3.285e-05	3.283e-05	3.854e-05	2.69e-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	0.155	0.24183	T	0.169	0.30534	T	0.939	0.52645	P	0.645	0.52270	P	0.000160	0.49130	D	0.139923	0.994857	0.42444	D	2.17	0.60663	M	1.56	0.29602	T	-1.18	0.30140	N	0.797	0.79310	-1.0787	0.07602	T	0.101	0.37468	T	10	0.53412914	0.63350	D	0.011979	0.30135	T	0.149	0.39377	.	.	0.043077524339	0.03247	0.4881629971587877	0.48736	1.46402968978	0.86419	0.742752671242	0.73378	T	0.068761	0.33540	T	-0.24915	0.14202	T	-0.393009	0.34200	T	0.395311266183853	0.28765	T	0.826617	0.49005	T	0.121540755	0.28578	0.14460962	0.34327	0.121540755	0.28578	0.14460962	0.34327	-7.822	0.59851	D	.	.	0.263	0.49740	B	.	.	4.437037	0.68853	25.3	0.99757968319205492	0.84851	0.92120	0.54989	D	AEFBI	0.475474	0.51930	N	0.357833052204367	0.59156	4.092557	0.379835668981194	0.60323	4.218554	0.999998841422224	0.74766	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.98	4.98	0.65679	5.227000	0.65134	11.028000	0.85030	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.959	0.63677	.	.	.	.	.	.	.	.	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	0.02381	2374.98	38	chr9	92656514	.	A	G	2374.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.443;DP=901;ExcessHet=0.0000;FS=4.185;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.43;ReadPosRankSum=1.01;SOR=1.017	GT:AD:DP:GQ:PL	0/1:89,102:191:99:2389,0,2046	20	0	1	0
chr9	96819529	96819529	C	A	exonic	ZNF782	.	nonsynonymous SNV	ZNF782:NM_001346993:exon4:c.G422T:p.R141L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.0	B	0.0	B	.	.	1.000	P	-0.895	N	5.98	T	-0.932	T	0.004	T	0.327	-0.408	2.091	-4.0	-1.320	-0.145	3.225	0.041	0.000896652167863	.	.	8.255e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs4645656	6.848e-07	6.84e-07	0	1.377e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.658	0.08943	T	0.912	0.04825	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	-1.445	0.00556	N	3.69	0.04114	T	2.37	0.00310	N	0.063	0.04668	-0.9319	0.43859	T	0.004	0.01330	T	8	0.033929974	0.01583	T	8.97E-4	0.00844	T	0.041	0.10877	0.524	0.62818	0.254244900254	0.25046	0.04433362831807223	0.04377	0.125945359065	0.14199	0.278184771538	0.07240	T	0.001582	0.01021	T	-0.264268	0.12404	T	-0.617379	0.11391	T	0.019273647166571	0.00633	T	0.0590941	0.00855	T	0.040805943	0.05892	0.041228253	0.04637	0.040805943	0.05892	0.041228253	0.04637	-2.08	0.03499	T	.	.	0.106	0.21578	B	.;.;.	.;.;.	-0.054531	0.03919	0.867	0.15256631057433792	0.00366	0.00002	0.00064	N	AEFGBHCI	0.015981	0.00332	N	-1.81364783500322	0.00512	0.02206136	-1.82350469604324	0.00687	0.03056922	0.0318755322217933	0.14025	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	3.38	-4.0	0.03787	0.300000	0.18911	-0.256000	0.10466	-0.681000	0.04224	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.1753:0.4618:0.0921:0.2708	3.225	0.06331	757	0.50970	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	8824.62	126	chr9	96819529	.	C	A,T	8824.62	.	AC=1,4;AF=0.024,0.095;AN=42;BaseQRankSum=2.56;DP=1311;ExcessHet=1.1607;FS=1.745;InbreedingCoeff=-0.1351;MLEAC=1,4;MLEAF=0.024,0.095;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=-5.840e-01;SOR=0.635	GT:AD:DP:GQ:PL	0/2:84,0,63:147:99:1576,1828,4042,0,2214,2025	16	0	1	0
chr9	97854424	97854424	-	GCC	exonic	FOXE1	.	nonframeshift insertion	FOXE1:NM_004473:exon1:c.510_511insGCC:p.A179_I180insA,	Bamforth-Lazarus syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs755194188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	10238.96	16	chr9	97854418	.	AGCCGCC	AGCCGCCGCC,A	10238.96	.	AC=2,29;AF=0.048,0.690;AN=42;BaseQRankSum=0.545;DP=637;ExcessHet=0.4237;FS=0.947;InbreedingCoeff=0.1378;MLEAC=2,29;MLEAF=0.048,0.690;MQ=60.00;MQRankSum=0.00;QD=30.56;ReadPosRankSum=1.13;SOR=0.623	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:4,9,0:13:99:.:.:317,0,136,329,163,492	2	0	1	0
chr9	104791984	104791984	C	G	exonic	ABCA1	.	nonsynonymous SNV	ABCA1:NM_005502:exon43:c.G5772C:p.K1924N,	HDL deficiency, type 2;Tangier disease, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.247	B	0.088	B	0.000	D	1.000	D	1.415	L	-3.17	D	0.200	D	0.664	D	0.234	2.553	14.50	4.92	1.467	0.703	9.087	0.335	0.06221081517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0012	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	0	0	5.055e-05	0	0	0.0002	0.0001	4.657e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	0.19639	T	0.091	0.40110	T	0.247	0.31125	B	0.088	0.29688	B	0.000000	0.84330	D	0.045089	0.999755	0.48800	D	1.13	0.28900	L	-3.17	0.93054	D	-1.21	0.30762	N	0.552	0.57775	0.200	0.85915	D	0.664	0.88344	D	10	0.61665916	0.67744	D	0.062211	0.68581	D	0.335	0.65718	0.505	0.59924	0.9309695667	0.93025	0.7757620043553375	0.77526	0.840773140511	0.68051	0.697716891766	0.66815	T	0.417549	0.77016	T	0.0336622	0.56210	T	-0.189423	0.55645	T	0.914153516292572	0.57069	D	0.827217	0.49094	T	0.21141762	0.43466	0.13099158	0.31463	0.21141762	0.43466	0.13099158	0.31462	-2.565	0.06242	T	0.3071058489311145	0.40482	0.557	0.67094	A	.	.	3.371619	0.46592	22.3	0.995040822481701	0.68206	0.88309	0.48179	D	ALL	0.483156	0.52372	N	-0.0355436023887051	0.40251	2.387167	0.105231415740194	0.44815	2.756065	0.999999999999994	0.74766	0.651	0.46895	0	0.573888	0.26702	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.82	4.92	0.64147	1.071000	0.30278	1.106000	0.24114	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.733:0.0:0.267	9.087	0.35749	950	0.11238	ABC transporter-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	133.7	66	chr9	104791984	.	C	G	133.7	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.995e+00;DP=1874;ExcessHet=0.3300;FS=259.479;InbreedingCoeff=-0.0772;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.37;ReadPosRankSum=1.26;SOR=11.043	GT:AD:DP:GQ:PL	0/1:96,36:132:20:20,0,1795	18	0	3	0
chr9	105604227	105604227	C	T	exonic	FKTN	.	nonsynonymous SNV	FKTN:NM_001351498:exon5:c.C382T:p.R128W	Cardiomyopathy, dilated, 1X, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, Autosomal recessive	YES	0	1519	3	0	0	3	0.000986518	.	.	258525	Cardiovascular_phenotype|Walker-Warburg_congenital_muscular_dystrophy|not_provided	MedGen:CN230736|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670,Orphanet:899|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.003	B	0.001	B	0.705	N	0.996	D	0.41	N	-1.62	D	-0.341	T	0.513	D	0.482	2.165	13.20	4.17	1.119	2.679	8.439	0.379	0.0333464837821	.	.	4.945e-05	0	8.663e-05	0	0	5.995e-05	0	6.057e-05	3.88e-05	6	154602	rs767026996	2.123e-05	2.189e-05	9.54e-06	3.304e-05	0.0001	1.522e-05	1.326e-05	8.003e-05	6.241e-05	2.992e-05	2.236e-05	0	0	0	0	1.079e-05	8.301e-05	0.0001	1.971e-05	1.969e-05	0	4.031e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	6.535e-05	0	0	0	0	1.47e-05	0	0.0002	0.053	0.38863	T	0.079	0.42086	T	0.001	0.07471	B	0.0	0.01387	B	0.704993	0.10062	N	0.878706	0.995922	0.42925	D	0.695	0.17993	N	-2.46	0.91019	D	-1.89	0.62151	N	0.418	0.46742	-0.3411	0.73812	T	0.513	0.81714	D	10	0.2543642	0.42814	T	0.033346	0.54917	D	0.379	0.69696	0.445	0.50302	0.806406756828	0.80459	0.6168817100914664	0.61620	0.161743901965	0.18254	0.23783737421	0.02599	T	0.314321	0.68601	T	-0.0625101	0.42515	T	-0.14604	0.59592	T	0.0385499353610001	0.03430	T	0.836416	0.50788	T	0.054137107	0.10346	0.06881928	0.14421	0.054137107	0.10346	0.06881928	0.14420	-7.321	0.56345	T	0.20868239779575906	0.27919	0.067	0.09094	B	.;.;.;.	.;.;.;.	3.417184	0.47432	22.5	0.99555713625536346	0.71459	0.91617	0.53903	D	AEFBI	0.459827	0.51027	N	-0.258168337079731	0.30778	1.719401	-0.074357186268741	0.36454	2.121693	0.0232074840961546	0.13490	0.706548	0.73137	0	0.546412	0.12157	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.07	4.17	0.48303	2.347000	0.43692	1.063000	0.23738	0.599000	0.40250	0.978000	0.35038	0.500000	0.25199	0.960000	0.51673	0.1624:0.7548:0.0:0.0829	8.439	0.31967	956	0.09877	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3061.98	38	chr9	105604227	.	C	T	3061.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.68;DP=877;ExcessHet=0.0000;FS=7.414;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.50;ReadPosRankSum=1.21;SOR=1.238	GT:AD:DP:GQ:PL	0/1:72,103:175:99:3076,0,1869	20	0	1	0
chr9	107488053	107488053	G	T	exonic	KLF4	.	nonsynonymous SNV	KLF4:NM_001314052:exon3:c.C341A:p.T114N	.	.	.	.	.	.	.	.	.	.	.	2797408	KLF4-related_disorder	.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.0	B	0.001	B	0.977	N	0.984	N	0.345	N	3.55	T	-0.960	T	0.009	T	0.08	0.214	5.152	2.88	2.325	0.292	1.973	0.094	0.00361205365262	0.0009	0.000199681	0.0006	0	0.0006	0	0	0.0010	0	0.0003	0.0005045	78	154602	rs150375845	0.0005	0.0005	0.0005	0.0005	0.0006	0.0005	0.0005	0.0006	0.0006	0.0001	0.0006	3.833e-05	0	1.903e-05	0.0005	0.0006	0.0004	0.0001	0.0006	0.0006	0.0007	0.0005	0.0011	0.0005	0.0005	0.0009	0.0008	9.618e-05	0	0.0005	0	0	9.409e-05	0	0.0011	0	0.0004	0.096	0.35349	T	0.508	0.10893	T	0.0	0.02946	B	0.001	0.04355	B	0.976525	0.08122	N	0.986447	0.983701	0.24862	N	0.345	0.11182	N	3.55	0.04746	T	-0.5	0.35792	N	0.094	0.07398	-0.9600	0.39181	T	0.009	0.03140	T	10	0.014234483	0.00300	T	0.003612	0.08278	T	0.094	0.27141	.	.	0.171220215726	0.16700	0.11962204955242348	0.11889	0.27121202922	0.29639	0.518047273159	0.41351	T	0.13382	0.46471	T	-0.636071	0.00088	T	-0.742796	0.03774	T	0.00411044345771147	0.00044	T	0.648035	0.25918	T	.	.	.	.	.	.	.	.	-3.607	0.17958	T	.	.	0.293	0.52401	B	.;.	.;.	2.409634	0.30968	18.60	0.73786624711017623	0.10455	0.39246	0.26170	N	AEFDBCI	0.324301	0.42623	N	-0.594292897421854	0.19117	0.9980225	-0.504799793076721	0.22022	1.194129	0.999997893865248	0.74766	0.582742	0.33608	0	0.541168	0.11318	0	0.606884	0.38211	0	0.56751	0.32155	0	.	.	5.02	2.88	0.32617	0.775000	0.26351	6.234000	0.55243	0.676000	0.76740	0.080000	0.22340	1.000000	0.68203	0.933000	0.47100	0.2599:0.0:0.4456:0.2945	1.973	0.03202	748	0.52143	.;.	.	.	.	.	.	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	0.02381	1605.98	34	chr9	107488053	.	G	T	1605.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.730e-01;DP=843;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=0.962;SOR=0.643	GT:AD:DP:GQ:PL	0/1:48,67:115:99:1620,0,1081	20	0	1	0
chr9	110697338	110697338	T	C	exonic	MUSK	.	nonsynonymous SNV	MUSK:NM_001166280:exon5:c.T500C:p.I167T	Fetal akinesia deformation sequence, Autosomal recessive;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, Autosomal recessive	.	1	1491	28	2	0	32	0.0106171	.	.	310665	Fetal_akinesia_deformation_sequence_1|Congenital_myasthenic_syndrome_9|MUSK-related_disorder|not_provided	Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994|MONDO:MONDO:0014587,MedGen:C4225368,OMIM:616325,Orphanet:590|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.013	B	0.000	N	1.000	D	1.105	L	-0.32	T	-0.980	T	0.180	T	0.193	1.138	9.636	3.57	0.143	2.983	10.855	0.073	0.0105356802295	0.0006	0.000998403	0.0011	0	8.639e-05	0.0001	0	0.0004	0	0.0064	0.0009638	149	154602	rs202045225	0.0008	0.0008	0.0006	0.0010	0.0076	0.0008	0.0008	0.0069	0.0067	2.988e-05	0.0001	0.0034	5.042e-05	1.875e-05	0.0076	0.0004	0.0009	0.0074	0.0005	0.0005	0.0003	0.0006	0.0060	0.0004	0.0004	0.0043	0.0037	0	0	0.0002	0.0035	0	0	0	0.0004	0	0.0060	0.227	0.27544	T	0.408	0.39645	T	0.0	0.02946	B	0.013	0.16460	B	0.000338	0.45700	N	0.223986	0.979095	0.47691	D	1.52	0.38360	L	-0.32	0.68181	T	-0.51	0.19509	N	0.366	0.44857	-0.9802	0.34955	T	0.180	0.52736	T	10	0.008293927	0.00188	T	0.010536	0.27195	T	0.073	0.21317	.	.	0.642361509819	0.63941	0.5543889347204217	0.55365	0.210267244558	0.23511	0.463808655739	0.33832	T	0.085329	0.37478	T	-0.457993	0.01012	T	-0.426787	0.30301	T	0.0137720248757838	0.00259	T	0.758424	0.41060	T	0.08186974	0.18832	0.09594791	0.22777	0.10821594	0.25586	0.1335766	0.32027	-7.667	0.58778	D	0.1998646848778895	0.26509	0.444	0.71856	A	.;.;.;.;.	.;.;.;.;.	1.949993	0.24767	16.52	0.7974631330892249	0.12882	0.79331	0.39290	D	AEFGBI	0.188104	0.31539	N	-0.666228027466867	0.16988	0.870428	-0.485543765250945	0.22551	1.225413	0.446587483137447	0.20502	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.88	3.57	0.40014	3.236000	0.51035	1.902000	0.29588	-0.912000	0.02253	1.000000	0.71638	1.000000	0.68203	0.904000	0.43992	0.0:0.1478:0.0:0.8522	10.855	0.46000	963	0.08280	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1669.98	34	chr9	110697338	.	T	C	1669.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.285e+00;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=-1.669e+00;SOR=0.666	GT:AD:DP:GQ:PL	0/1:65,71:136:99:1684,0,1651	20	0	1	0
chr9	113425366	113425368	GCA	-	exonic	C9orf43	.	nonframeshift deletion	C9orf43:NM_001278629:exon10:c.888_890del:p.Q304del	.	.	0	191	29	0	6	35	0.0705596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0455	.	0.0077	0.0081	0.0088	0.0112	0.0082	0.0065	0.0057	0.0093	0.0003074	8	26028	rs371732185	9.978e-05	0.0028	8.758e-05	0.0001	0.0007	8.629e-05	8.095e-05	0.0002	0.0001	6.014e-05	9.044e-05	7.73e-05	0.0002	0.0002	0.0007	9.397e-05	3.334e-05	0.0001	1.317e-05	3.94e-05	1.288e-05	1.347e-05	0.0002	2.19e-06	8.2e-07	.	.	2.413e-05	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	1735.12	34	chr9	113425365	.	GGCA	G,GGCAGCA	1735.12	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=0.392;DP=680;ExcessHet=0.6776;FS=4.348;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=-5.560e-01;SOR=1.079	GT:AD:DP:GQ:PL	0/1:26,4,0:30:90:90,0,1079,168,1091,1260	17	0	1	0
chr9	113425368	113425368	-	GCA	exonic	C9orf43	.	nonframeshift insertion	C9orf43:NM_001278629:exon10:c.890_891insGCA:p.Q304_K305insQ	.	.	0	191	29	0	6	35	0.0705596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	1735.12	34	chr9	113425365	.	GGCA	G,GGCAGCA	1735.12	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=0.392;DP=680;ExcessHet=0.6776;FS=4.348;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=-5.560e-01;SOR=1.079	GT:AD:DP:GQ:PL	0/1:26,4,0:30:90:90,0,1079,168,1091,1260	17	0	1	0
chr9	114076605	114076605	G	C	exonic	AMBP	.	nonsynonymous SNV	AMBP:NM_001633:exon2:c.C253G:p.R85G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.978	D	0.828	P	0.586	N	1.000	N	1.69	L	-1.5	D	-0.524	T	0.500	T	0.451	1.682	11.58	2.86	1.994	1.669	7.683	0.390	0.061572197129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.341	0.12673	T	0.137	0.33894	T	0.956	0.54666	P	0.828	0.59497	P	0.585944	0.11097	N	0.794321	0.999999	0.08975	N	1.825	0.47900	L	-1.5	0.81318	D	-1.96	0.45404	N	0.713	0.71587	-0.5245	0.67748	T	0.500	0.81096	T	10	0.815874	0.80827	D	0.061572	0.68375	D	0.390	0.70603	0.688	0.82558	0.89407510043	0.89302	0.7773025837517823	0.77680	0.476791464466	0.46802	0.212347328663	0.00915	T	0.106527	0.41794	T	0.0224971	0.54717	T	-0.205461	0.54128	T	0.442022468240448	0.30504	T	0.620138	0.23804	T	0.45549315	0.64389	0.1532301	0.36016	0.45549315	0.64390	0.1532301	0.36015	-8.908	0.67103	D	.	.	0.287	0.51891	B	.	.	3.809048	0.54931	23.5	0.99568853192645834	0.72258	0.25258	0.22645	N	AEFDBHCI	0.481351	0.52268	N	-0.0923992963553076	0.37726	2.198998	-0.266962093081062	0.29194	1.633659	0.999999997903279	0.74766	0.631981	0.41245	0	0.573888	0.26702	0	0.779548	0.98927	0	0.530356	0.10902	0	.	.	3.86	2.86	0.32427	1.994000	0.40377	6.175000	0.54547	0.676000	0.76740	0.018000	0.19461	0.996000	0.32793	0.377000	0.26268	0.0:0.0:0.7267:0.2733	7.683	0.27692	697	0.58201	Lipocalin/cytosolic fatty-acid binding 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	0.02381	1600.98	38	chr9	114076605	.	G	C	1600.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.110e-01;DP=852;ExcessHet=0.0000;FS=2.893;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.67;ReadPosRankSum=-5.640e-01;SOR=0.946	GT:AD:DP:GQ:PL	0/1:78,72:150:99:1615,0,1813	20	0	1	0
chr9	114406374	114406374	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1164C:p.R388S	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.956	D	0.000	D	1.000	D	2.295	M	3.72	T	-1.147	T	0.071	T	0.888	2.729	15.09	4.38	2.485	0.438	9.668	0.246	0.0237251287023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.249	0.34959	T	0.996	0.68779	D	0.956	0.69739	D	0.000003	0.62929	D	0.058524	0.999998	0.58761	D	2.485	0.72352	M	3.72	0.11082	T	-1.76	0.41618	N	0.794	0.79022	-1.1467	0.01127	T	0.071	0.28969	T	10	0.7061209	0.72749	D	0.023725	0.46702	T	0.246	0.55340	0.267	0.21418	0.465381546717	0.46164	0.546202977391294	0.54546	0.217767607061	0.24300	0.665198624134	0.62152	T	0.178877	0.52967	T	0.156707	0.69894	D	-0.0126771	0.69508	D	0.965095579624176	0.67160	D	0.918408	0.70674	D	0.43276304	0.62933	0.30041197	0.56075	0.43276304	0.62933	0.30041197	0.56074	-3.765	0.20655	T	.	.	0.861	0.82156	P	.;.;.	.;.;.	4.122777	0.61634	24.4	0.99728939135831174	0.82619	0.85209	0.44322	D	AEFDBI	0.404361	0.47768	N	0.490746823562894	0.66546	4.964436	0.418910173237003	0.62744	4.495032	0.999998553595518	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	4.38	0.52019	0.480000	0.21954	1.068000	0.23780	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.662000	0.33024	0.0:0.8454:0.0:0.1546	9.668	0.39158	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.3529	5368.01	152	chr9	114406374	.	C	G	5368.01	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-2.027e+00;DP=4227;ExcessHet=9.6308;FS=138.874;InbreedingCoeff=-0.5312;MLEAC=14;MLEAF=0.412;MQ=60.00;MQRankSum=0.00;QD=2.25;ReadPosRankSum=0.063;SOR=12.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:187,39:226:99:.:.:142,0,5971	5	0	12	4
chr9	120409136	120409136	T	A	exonic	CDK5RAP2	.	nonsynonymous SNV	CDK5RAP2:NM_001272039:exon27:c.A3905T:p.E1302V	Microcephaly 3, primary, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.989	D	0.836	P	0.127	N	0.980	N	1.845	L	1.3	T	-0.947	T	0.156	T	0.436	3.092	16.33	4.03	0.899	4.130	11.073	0.157	0.0308713536964	.	.	0.0002	0	0	0	0	0	0	0.0013	0.0001423	22	154602	rs367613839	9.113e-05	9.098e-05	5.727e-05	0.0001	0.0015	7.836e-05	7.317e-05	0.0013	0.0012	0	0	0	0	0	0.0002	0	4.98e-05	0.0015	3.938e-05	3.937e-05	3.853e-05	4.027e-05	0.0010	1.714e-05	1.128e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.47e-05	0	0.0010	0.002	0.78490	D	0.002	0.79402	D	0.931	0.62824	P	0.36	0.59919	B	0.127274	0.18774	N	0.478744	0.979545	0.25174	N	2.545	0.74286	M	3.79	0.35590	T	-4.53	0.88148	D	0.598	0.61680	-0.9470	0.41481	T	0.156	0.48755	T	10	0.04211819	0.02930	T	0.030871	0.53083	D	0.157	0.40909	0.171	0.07655	0.446310458034	0.44255	0.16517922051152617	0.16437	0.442571893337	0.44215	0.312757462263	0.12324	T	0.710288	0.91731	D	-0.352661	0.04562	T	-0.314728	0.43150	T	0.220562307665432	0.21492	T	0.850115	0.53348	D	0.26502582	0.49571	0.31381452	0.57377	0.24666592	0.47637	0.3053895	0.56565	-6.79	0.52485	T	.	.	0.186	0.41947	B	.;.;.;.;.	.;.;.;.;.	4.568992	0.72067	25.8	0.9892255418075957	0.48583	0.98182	0.80315	D	AEFDGBI	0.252470	0.37215	N	0.158811245359375	0.49231	3.125721	0.0794874384440623	0.43519	2.651936	0.999999726402155	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.2	4.03	0.46115	4.332000	0.59063	1.556000	0.27325	0.609000	0.47794	0.994000	0.38300	0.014000	0.20376	0.221000	0.22489	0.0:0.0:0.1555:0.8445	11.073	0.47235	912	0.21483	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	981.98	28	chr9	120409136	.	T	A	981.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.601e+00;DP=652;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=23.95;ReadPosRankSum=0.392;SOR=0.511	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,25:41:99:0|1:120409136_T_A:996,0,561:120409136	20	0	1	0
chr9	120409137	120409137	C	T	exonic	CDK5RAP2	.	nonsynonymous SNV	CDK5RAP2:NM_001272039:exon27:c.G3904A:p.E1302K	Microcephaly 3, primary, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.86	P	0.352	B	0.127	N	0.993	N	1.155	L	1.39	T	-1.071	T	0.070	T	0.291	2.268	13.54	3.29	0.655	1.248	9.194	0.021	0.0164506841988	.	.	0.0002	0	0	0	0	0	0	0.0013	0.0001423	22	154602	rs750622631	9.113e-05	9.098e-05	5.727e-05	0.0001	0.0015	7.836e-05	7.317e-05	0.0013	0.0012	0	0	0	0	0	0.0002	0	4.98e-05	0.0015	3.937e-05	3.937e-05	3.853e-05	4.026e-05	0.0010	1.714e-05	1.128e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.47e-05	0	0.0010	0.213	0.33254	T	0.068	0.45318	T	0.192	0.47373	B	0.031	0.42883	B	0.127274	0.18774	N	0.478744	0.992983	0.23791	N	0.755	0.19153	N	4.01	0.33842	T	-1.95	0.57599	N	0.255	0.28849	-1.0710	0.09194	T	0.070	0.28609	T	10	0.022916853	0.00585	T	0.016451	0.37712	T	0.021	0.04004	0.247	0.18293	0.268211541103	0.26431	0.12736698950286374	0.12662	0.407279978005	0.41592	0.351603031158	0.18158	T	0.232798	0.59944	T	-0.482061	0.00719	T	-0.500602	0.22284	T	0.0768562844321291	0.09580	T	0.848015	0.52922	T	0.058201026	0.11680	0.08167205	0.18579	0.057275485	0.11378	0.09163998	0.21555	-4.887	0.35589	T	.	.	0.127	0.32445	B	.;.;.;.;.	.;.;.;.;.	2.370549	0.30420	18.43	0.99754215826313497	0.84537	0.89417	0.49869	D	AEFDGBI	0.078854	0.15917	N	-0.414516023389647	0.24959	1.351482	-0.402356001812849	0.24928	1.367878	0.999999058602882	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.2	3.29	0.36801	0.996000	0.29320	0.727000	0.21057	-0.242000	0.07441	0.534000	0.27220	0.003000	0.18671	0.177000	0.21203	0.0:0.7754:0.1462:0.0783	9.194	0.36375	912	0.21483	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	981.98	28	chr9	120409137	.	C	T	981.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.153;DP=655;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=23.95;ReadPosRankSum=0.642;SOR=0.511	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,25:41:99:0|1:120409136_T_A:996,0,561:120409136	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.002	B	0.012	B	0.119	N	1.000	N	1.045	L	8.47	T	-0.981	T	0.000	T	0.241	-0.246	2.815	3.09	0.623	0.717	7.537	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	0	0	0	0	0	0	0	0	0	0	0	0.4286	10749.2	301	chr9	122724732	.	T	C	10749.2	.	AC=12;AF=0.429;AN=28;BaseQRankSum=8.60;DP=6952;ExcessHet=9.6308;FS=27.314;InbreedingCoeff=-0.5849;MLEAC=15;MLEAF=0.536;MQ=58.33;MQRankSum=-1.529e+01;QD=2.73;ReadPosRankSum=-7.300e+00;SOR=4.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:322,48:370:99:0|1:122724732_T_C:928,0,13226:122724732	2	0	12	7
chr9	122724738	122724738	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T749C:p.V250A,	.	.	428	1012	82	0	0	82	0.0389364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.0	B	0.003	B	0.363	N	1.000	N	-0.46	N	0.93	T	-1.008	T	0.042	T	0.097	-1.802	0.009	-7.85	-1.692	-2.805	8.760	0.010	0.00138298223274	.	.	8.242e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs773750205	4.128e-06	0.0017	4.098e-06	4.158e-06	4.494e-05	1.49e-06	9.8e-07	7.45e-06	2.79e-06	2.995e-05	4.494e-05	0	2.533e-05	0	0	9.039e-07	1.665e-05	0	2.725e-05	0.0009	3.982e-05	1.4e-05	0.0002	8.37e-06	5.29e-06	.	.	2.5e-05	0	0	0	0	0.0002	0	0	0	0.0002	0.56	0.06381	T	0.334	0.18340	T	0.0	0.02946	B	0.003	0.08700	B	0.363490	0.04318	N	1.430160	1	0.08975	N	-0.355	0.03127	N	0.93	0.44065	T	0.28	0.04233	N	0.048	0.01999	-1.0082	0.27479	T	0.042	0.17994	T	10	0.027532607	0.00898	T	0.001383	0.02011	T	0.010	0.01040	.	.	0.146414634003	0.14194	0.029921180382566498	0.02941	0.133905216648	0.15082	0.228572815657	0.01864	T	0.008154	0.07505	T	-0.373075	0.03441	T	-0.773673	0.02649	T	0.0352781535904976	0.02857	T	0.0471953	0.00337	T	0.018524058	0.00374	0.028399432	0.01073	0.018524058	0.00374	0.028399432	0.01073	-3.488	0.16265	T	.	.	0.091	0.13127	B	.	.	-1.366501	0.00385	0.007	0.26517900806360473	0.01274	0.00656	0.02847	N	AEFGBI	0.051091	0.08994	N	-1.92157175688344	0.00310	0.01331125	-1.9879660246432	0.00325	0.01433726	0.679012312914238	0.22457	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	-7.85	0.01056	-3.495000	0.00503	-12.828000	0.00498	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2704:0.1842:0.5455	8.760	0.33827	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	0.3529	6434.01	290	chr9	122724738	.	T	C	6434.01	.	AC=12;AF=0.353;AN=34;BaseQRankSum=0.102;DP=5824;ExcessHet=9.6308;FS=29.363;InbreedingCoeff=-0.5013;MLEAC=14;MLEAF=0.412;MQ=58.45;MQRankSum=-1.685e+01;QD=1.74;ReadPosRankSum=-6.376e+00;SOR=6.544	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:310,36:346:99:0|1:122724732_T_C:578,0,12906:122724732	5	0	12	4
chr9	127196583	127196583	G	T	exonic	RALGPS1	.	nonsynonymous SNV	RALGPS1:NM_001322321:exon13:c.G1147T:p.G383C	.	.	418	1084	20	0	0	20	0.00914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.001	B	0.013	B	0.170	N	0.000	P	0.55	N	1.72	T	-1.094	T	0.002	T	0.488	2.745	15.14	4.57	2.572	4.607	6.329	0.151	.	0.0004	0.0313498	0.0150	0.0005	0.0010	0.0965	0	0.0010	0.0167	0.0546	0.0136285	2107	154602	rs57728614	0.0068	0.0068	0.0054	0.0082	0.0939	0.0067	0.0066	0.0913	0.0903	0.0003	0.0004	0.0070	0.0939	7.49e-05	0.0028	0.0008	0.0086	0.0532	0.0057	0.0057	0.0044	0.0070	0.0907	0.0053	0.0052	0.0839	0.0812	0.0004	0	0.0007	0.0069	0.0907	9.411e-05	0	0.0007	0.0047	0.0581	0.002	0.72154	D	0.117	0.36365	T	0.001	0.07471	B	0.013	0.16460	B	0.170414	0.03106	N	1.540210	0.467754	0.81001	P	1.245	0.31408	L	1.72	0.26588	T	-3.01	0.62518	D	0.123	0.11483	-1.0941	0.04884	T	0.002	0.00556	T	9	0.001595825	0.00018	T	.	.	.	0.151	0.39764	.	.	.	.	0.5895088045521972	0.58880	0.79976336125	0.66189	0.527296543121	0.42653	T	0.048189	0.27944	T	-0.453124	0.01082	T	-0.347092	0.39537	T	0.0433640058427984	0.04304	T	0.70313	0.31322	T	0.25829044	0.48878	0.186856	0.41883	0.25829044	0.48878	0.186856	0.41883	-2.739	0.07636	T	.	.	0.101	0.17700	B	.	.	4.141253	0.62042	24.4	0.99497777839643564	0.67859	0.94509	0.61395	D	AEFDBI	0.743594	0.68685	D	-0.0735944810685479	0.38553	2.259815	0.123333434683196	0.45745	2.832247	0.999999907550948	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.48	4.57	0.55860	5.078000	0.64255	9.828000	0.81844	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.813000	0.38311	0.2426:0.0:0.7574:0.0	6.329	0.20467	856	0.34373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1407.98	38	chr9	127196583	.	G	T	1407.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.740e-01;DP=813;ExcessHet=0.0000;FS=0.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.04;ReadPosRankSum=-1.236e+00;SOR=0.600	GT:AD:DP:GQ:PL	0/1:50,58:108:99:1422,0,1227	20	0	1	0
chr9	127707148	127707148	G	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.G117C:p.E39D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.58	P	0.16	B	0.012	N	1.000	D	1.87	L	0.85	T	-1.078	T	0.089	T	0.151	2.394	13.96	2.23	0.458	0.075	3.228	0.048	0.00511713534183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	4.926e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.133	0.34359	T	0.58	0.38813	P	0.16	0.34752	B	0.011693	0.29437	N	0.400143	0.937019	0.26902	N	.	.	.	0.85	0.47130	T	-2.13	0.48354	N	0.253	0.28616	-1.0776	0.07821	T	0.089	0.34271	T	10	0.15869087	0.29835	T	0.005117	0.13001	T	0.048	0.13305	0.117	0.02508	0.511220899679	0.50763	0.22389107574446282	0.22304	0.665481085244	0.59146	.	.	.	0.083009	0.36958	T	-0.233602	0.16174	T	-0.573329	0.15145	T	0.768105268478394	0.44326	D	0.642936	0.25461	T	0.07620602	0.17219	0.08653153	0.20054	0.07620602	0.17219	0.08653153	0.20054	-5.906	0.47647	T	.	.	0.170	0.37312	B	.;.	.;.	1.611943	0.20598	14.82	0.99153328533649743	0.53875	0.62448	0.31784	D	AEFDGBCI	0.199371	0.32618	N	-0.115357649790928	0.36724	2.126585	-0.0733379664216469	0.36497	2.124728	0.999992507834303	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	2.23	0.27189	0.091000	0.14885	0.384000	0.17813	0.649000	0.52879	0.993000	0.37899	0.958000	0.29226	0.883000	0.42306	0.3494:0.0:0.4698:0.1808	3.228	0.06340	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.425	2743.82	57	chr9	127707148	.	G	C,A	2743.82	.	AC=11,6;AF=0.275,0.150;AN=40;BaseQRankSum=-9.810e-01;DP=1576;ExcessHet=25.1139;FS=227.043;InbreedingCoeff=-0.7001;MLEAC=11,6;MLEAF=0.275,0.150;MQ=60.00;MQRankSum=0.00;QD=2.28;ReadPosRankSum=0.651;SOR=11.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,8,0:74:22:0|1:127707145_G_T:22,0,2583,221,2607,2828:127707145	3	0	11	1
chr9	127707149	127707149	T	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.T118C:p.F40L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.957	D	0.799	P	0.000	N	1.000	D	2.175	M	1.01	T	-0.875	T	0.164	T	0.368	4.702	26.1	4.33	0.927	4.094	9.215	0.159	0.019678184343	.	.	8.323e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs757079161	0.0001	0.0036	0.0001	8.536e-05	0.0002	9.346e-05	8.764e-05	0.0001	9.824e-05	9.678e-05	0	0	2.569e-05	0	0	0.0001	5.349e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.191	0.28391	T	0.957	0.54824	D	0.799	0.58136	P	0.000003	0.62929	N	0.105467	0.999583	0.47691	D	.	.	.	1.01	0.41058	T	-5.4	0.85103	D	0.489	0.52829	-0.8745	0.50188	T	0.164	0.50078	T	10	0.3438111	0.51386	T	0.019678	0.42104	T	0.159	0.41286	0.15	0.05339	0.612519348966	0.60940	0.6570251018140777	0.65639	0.875989159395	0.69568	.	.	.	0.327925	0.69838	T	-0.210031	0.19374	T	-0.357944	0.38290	T	0.938539505004883	0.60923	D	0.579842	0.20971	T	0.85248286	0.87520	0.67909664	0.81148	0.85248286	0.87521	0.67909664	0.81149	-9.512	0.72170	D	.	.	0.947	0.86617	P	.;.	.;.	4.218635	0.63791	24.6	0.99813715176146511	0.89708	0.79497	0.39404	D	AEFDGBCI	0.430877	0.49340	N	0.327399038086192	0.57559	3.923681	0.314456036050452	0.56389	3.802111	0.999999899276312	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	4.33	0.51083	4.073000	0.57290	3.987000	0.40955	0.638000	0.52053	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	0.0:0.0857:0.0:0.9143	9.215	0.36505	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	1341.42	63	chr9	127707149	.	T	C	1341.42	.	AC=10;AF=0.250;AN=40;BaseQRankSum=-1.954e+00;DP=1423;ExcessHet=6.1002;FS=146.491;InbreedingCoeff=-0.3339;MLEAC=10;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=1.86;ReadPosRankSum=0.801;SOR=10.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,8:74:22:0|1:127707145_G_T:22,0,2583:127707145	10	0	10	1
chr9	127707150	127707150	T	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.T119C:p.F40S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	1.0	D	0.993	D	0.000	D	1.000	D	2.175	M	1.1	T	-0.776	T	0.227	T	0.925	4.505	24.2	5.46	2.075	5.688	13.490	0.321	0.0295012344328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.025e-05	0.0013	2.604e-05	1.446e-05	3.126e-05	1.404e-05	1.209e-05	1.739e-05	1.477e-05	3.126e-05	0	0	0	0	0	2.5e-05	0	1.182e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.053	0.47336	T	1.0	0.90584	D	0.993	0.81110	D	0.000003	0.62929	D	0.105467	0.99989	0.50595	D	.	.	.	1.1	0.39050	T	-7.17	0.94145	D	0.892	0.90025	-0.7757	0.56542	T	0.227	0.59233	T	10	0.62868714	0.68391	D	0.029501	0.51995	D	0.321	0.64318	0.292	0.25400	0.617737460462	0.61464	0.8563961070607592	0.85602	1.09668489094	0.77603	.	.	.	0.333157	0.70304	T	0.256066	0.79166	D	0.130044	0.78896	D	0.995957314968109	0.88384	D	0.631737	0.24648	T	0.883188	0.89932	0.88241297	0.93731	0.883188	0.89933	0.88241297	0.93731	-12.272	0.88445	D	.	.	0.839	0.79209	P	.;.	.;.	4.916668	0.80938	27.4	0.99871547018832008	0.94902	0.88781	0.48875	D	AEFDGBCI	0.697108	0.65523	D	0.612068453635021	0.73938	6.048333	0.59676151836649	0.74706	6.182971	0.9999999998598	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	5.46	0.80021	5.665000	0.67722	5.919000	0.51137	0.638000	0.52053	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.0:0.0:1.0	13.490	0.60843	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	1185.39	50	chr9	127707150	.	T	C	1185.39	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-2.872e+00;DP=1368;ExcessHet=4.7172;FS=144.390;InbreedingCoeff=-0.2762;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.85;ReadPosRankSum=0.908;SOR=10.283	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,8:74:22:0|1:127707145_G_T:22,0,2583:127707145	12	0	9	0
chr9	128101187	128101187	G	C	exonic	SLC25A25	.	nonsynonymous SNV	SLC25A25:NM_001006641:exon2:c.G353C:p.R118T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.868	P	0.572	P	0.000	D	1.000	D	2.065	M	-0.7	T	-0.438	T	0.380	T	0.804	2.016	12.70	5.33	2.487	4.398	18.009	0.416	0.0420021043119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.19225	T	0.369	0.16522	T	0.868	0.47740	P	0.572	0.49931	P	0.000000	0.84330	D	0.041945	0.999998	0.81001	D	2.215	0.62545	M	-0.7	0.72785	T	-2.41	0.54546	N	0.667	0.67736	-0.4377	0.70807	T	0.380	0.73692	T	10	0.5000973	0.61497	D	0.042002	0.60234	D	0.416	0.72631	0.61	0.74300	0.200294437569	0.19612	0.8142011479369076	0.81376	0.978056266541	0.73627	0.778474271297	0.78698	T	0.436539	0.78289	T	0.186908	0.72678	D	0.0307039	0.72323	D	0.797435283660889	0.46180	D	0.844516	0.79334	T	0.4251696	0.62434	0.347225	0.60379	0.4251696	0.62435	0.347225	0.60379	-8.202	0.67762	D	.	.	0.415	0.76696	A	.;.;.;.;.	.;.;.;.;.	4.561538	0.71881	25.7	0.93999598795195805	0.24094	0.96966	0.71921	D	AEFGBI	0.764155	0.70104	D	0.177338735965513	0.50112	3.204398	0.295564956828609	0.55281	3.691184	0.999999882866597	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.33	5.33	0.75683	4.489000	0.60035	11.899000	0.99301	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.009	0.89140	231	0.90996	.;.;.;.;EF-hand domain|EF-hand domain|EF-hand 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	0.09524	139.95	128	chr9	128101187	.	G	C	139.95	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-4.915e+00;DP=1519;ExcessHet=0.6776;FS=118.667;InbreedingCoeff=-0.1057;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.34;ReadPosRankSum=0.933;SOR=9.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,17:95:68:0|1:128101187_G_C:68,0,2986:128101187	17	0	4	0
chr9	128101188	128101188	G	C	exonic	SLC25A25	.	nonsynonymous SNV	SLC25A25:NM_001006641:exon2:c.G354C:p.R118S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.868	P	0.494	P	0.000	D	1.000	D	2.41	M	-0.72	T	-0.592	T	0.312	T	0.766	2.552	14.49	2.45	1.235	0.510	8.422	0.565	0.0635115361609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0037	0.0001	0.0001	0.0002	9.968e-05	9.425e-05	0.0001	0.0001	0.0002	0	0	2.538e-05	0	0	0.0001	5.152e-05	5.882e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	0.23007	T	0.36	0.17014	T	0.868	0.47740	P	0.494	0.47478	P	0.000000	0.84330	D	0.041945	1	0.81001	D	2.27	0.64531	M	-0.72	0.72994	T	-2.2	0.50502	N	0.592	0.61172	-0.5924	0.65125	T	0.312	0.68220	T	10	0.42217892	0.56938	T	0.063512	0.68991	D	0.565	0.82232	0.611	0.74418	0.266724437049	0.26276	0.8208935264102138	0.82046	1.10394199327	0.77820	0.748741447926	0.74261	T	0.421327	0.77275	T	0.148143	0.69094	D	-0.02498	0.68702	D	0.774935901165009	0.44738	D	0.959804	0.85511	D	0.35418284	0.57390	0.3380839	0.59591	0.35418284	0.57391	0.3380839	0.59590	-7.65	0.62296	D	.	.	0.623	0.82606	P	.;.;.;.;.	.;.;.;.;.	3.414575	0.47383	22.4	0.99085328864255551	0.52075	0.94030	0.59902	D	AEFGBI	0.643967	0.62039	D	0.0999592402221534	0.46460	2.886059	0.114203922356772	0.45274	2.793509	0.999955091771372	0.48110	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.33	2.45	0.28953	0.535000	0.22822	2.384000	0.32503	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.999000	0.91618	0.3583:0.0:0.6417:0.0	8.422	0.31866	231	0.90996	.;.;.;.;EF-hand domain|EF-hand domain|EF-hand 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	0.09524	144.95	126	chr9	128101188	.	G	C	144.95	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-4.017e+00;DP=1773;ExcessHet=0.6776;FS=118.667;InbreedingCoeff=-0.1059;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.35;ReadPosRankSum=0.925;SOR=9.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,17:95:68:0|1:128101187_G_C:68,0,2986:128101187	17	0	4	0
chr9	128979277	128979277	G	A	exonic	NUP188	.	nonsynonymous SNV	NUP188:NM_015354:exon13:c.G1219A:p.A407T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.995	D	0.991	D	0.000	D	1.000	D	0.695	N	-0.15	T	-0.564	T	0.298	T	0.745	3.840	19.50	5.11	2.528	8.308	17.887	0.270	0.0409883394051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.46910	D	0.049	0.48336	D	0.995	0.67487	D	0.991	0.79672	D	0.000000	0.84330	D	0.048394	1	0.81001	D	0.805	0.20218	L	-0.15	0.65192	T	-0.61	0.18042	N	0.801	0.79696	-0.5639	0.66255	T	0.298	0.66896	T	10	0.65435886	0.69786	D	0.040988	0.59680	D	0.270	0.58507	0.548	0.66296	0.23798241625	0.23396	0.416710497574191	0.41587	0.718008405053	0.62071	0.67628455162	0.63736	T	0.025991	0.19327	T	0.151832	0.69439	D	-0.0196809	0.69049	D	0.812359213829041	0.47215	D	0.952805	0.82030	D	0.20271438	0.42325	0.2112804	0.45550	0.20271438	0.42325	0.2112804	0.45549	-3.122	0.11551	T	.	.	0.176	0.38552	B	.	.	4.556774	0.71761	25.7	0.99886755084683121	0.96204	0.99046	0.90435	D	AEFDBIJ	0.862820	0.78120	D	0.59187806074507	0.72667	5.841962	0.617371761877709	0.76201	6.447552	0.999999999991504	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.11	5.11	0.69188	8.421000	0.90129	11.679000	0.94198	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	17.887	0.88777	902	0.24074	.	.	.	.	.	.	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	0.02381	1429.98	36	chr9	128979277	.	G	A	1429.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.092e+00;DP=825;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.36;ReadPosRankSum=0.064;SOR=0.641	GT:AD:DP:GQ:PL	0/1:72,66:138:99:1444,0,1711	20	0	1	0
chr9	131117828	131117828	T	C	exonic	AIF1L	.	nonsynonymous SNV	AIF1L:NM_001185096:exon5:c.T275C:p.I92T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.979	D	0.000	D	1.000	D	3.165	M	1.11	T	-0.100	T	0.377	T	0.977	5.102	31	5.74	2.192	8.013	15.223	0.829	0.086331759809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.83351	D	0.962	0.73220	D	0.744	0.74454	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.04	0.86592	M	0.78	0.50976	T	-4.79	0.80595	D	0.967	0.98065	-0.0997	0.80104	T	0.377	0.73438	T	10	0.9224597	0.91598	D	0.086332	0.74714	D	0.829	0.94579	.	.	0.805461841073	0.80364	0.7238422849693593	0.72328	1.03534464927	0.75567	0.843075454235	0.88563	D	0.31304	0.76002	T	0.321721	0.84592	D	0.224353	0.84391	D	0.996974255464703	0.90488	D	0.961204	0.90184	D	0.8458817	0.87033	0.71896714	0.83409	0.8458817	0.87034	0.71896714	0.83410	-10.81	0.84118	D	.	.	0.963	0.90501	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.555044	0.71721	25.7	0.99846229060438119	0.92576	0.93631	0.58748	D	AEFGBCI	0.940799	0.94325	D	0.878168267895768	0.90649	10.50113	0.839486138280923	0.92388	11.39726	0.999999999999895	0.74766	0.67177	0.52595	0	0.563428	0.19063	0	0.702456	0.68683	0	0.654926	0.60358	0	.	.	5.74	5.74	0.90070	7.991000	0.87898	7.825000	0.69893	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	15.223	0.73020	358	0.85037	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	49.41	33	chr9	131117828	.	T	C	49.41	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.351e+00;DP=1141;ExcessHet=0.1072;FS=160.711;InbreedingCoeff=-0.0571;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.13;ReadPosRankSum=1.50;SOR=9.308	GT:AD:DP:GQ:PL	0/1:162,38:200:53:53,0,3511	19	0	2	0
chr9	131525948	131525948	C	A	exonic	UCK1	.	nonsynonymous SNV	UCK1:NM_001135954:exon5:c.G538T:p.A180S,	.	.	441	12	103	962	4	2031	0.988298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	.	.	0.000	P	.	.	.	.	-1.006	T	0.084	T	.	1.509	11.00	-5.08	-1.075	-1.779	8.437	0.047	.	.	0.00359425	0.0115	0.0019	0.0029	0	0.0449	0.0153	0.0165	0.0005	0.0101616	1571	154602	rs2296957	0.0096	0.0096	0.0096	0.0095	0.0095	0.0094	0.0094	0.0093	0.0093	0.0010	0.0026	0.0129	0	0.0450	0.0040	0.0095	0.0079	0.0007	0.0100	0.0100	0.0094	0.0106	0.0126	0.0096	0.0094	0.0119	0.0117	0.0019	0.0022	0.0045	0.0130	0	0.0421	0.0102	0.0126	0.0076	0.0006	0.011	0.55530	D	0.243	0.24193	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.961213	0.81001	P	.	.	.	.	.	.	0.0	0.07008	N	0.172	0.18376	-1.0056	0.28277	T	0.084	0.32900	T	6	0.0025280416	0.00038	T	.	.	.	0.047	0.12962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.405995	0.02114	T	-0.339041	0.40452	T	0.00859621503851041	0.00105	T	0.247575	0.03662	T	.	.	.	.	.	.	.	.	-3.789	0.20640	T	.	.	0.073	0.04599	B	.	.	-0.350826	0.02404	0.268	0.94187066689665522	0.24411	0.05572	0.11472	N	AEFDGBI	0.025031	0.01647	N	-1.132785988659	0.06068	0.2783438	-1.18764225716248	0.06115	0.2933808	0.994168486267738	0.33516	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.97	-5.08	0.02708	-1.771000	0.01887	-0.905000	0.06976	-2.303000	0.00321	0.001000	0.13787	0.000000	0.08366	0.763000	0.36255	0.1735:0.394:0.4325:0.0	8.437	0.31954	419	0.81524	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.9048	62824.01	90	chr9	131525948	.	C	T,A	62824.01	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=-7.610e-01;DP=2393;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=60.00;MQRankSum=0.00;QD=26.87;ReadPosRankSum=0.558;SOR=0.662	GT:AD:DP:GQ:PL	1/1:0,123,0:123:99:3649,369,0,3649,369,3649	0	17	3	0
chr9	133208141	133208141	T	A	exonic	OBP2B	.	nonsynonymous SNV	OBP2B:NM_001288987:exon3:c.A269T:p.Y90F	.	.	654	836	30	2	0	34	0.0199297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.393	B	0.257	B	0.027	N	1.000	N	0.695	N	3.25	T	-0.959	T	0.012	T	0.248	-1.377	0.025	0.679	-0.219	-0.353	5.651	0.069	.	.	.	0.0079	0.0137	0.0018	0.0039	0.0052	0.0106	0.0048	0.0011	3.84e-05	1	26028	rs1413608059	0.0005	0.0049	0.0004	0.0007	0.0009	0.0005	0.0005	0.0007	0.0007	0.0003	0.0007	0.0004	0.0007	0.0023	0.0002	0.0004	0.0007	0.0009	0.0004	0.0040	0.0004	0.0003	0.0009	0.0003	0.0003	0.0003	0.0003	0.0002	0.0012	0.0002	0	0.0004	0.0004	0	0.0005	0.0010	0.0009	0.297	0.14645	T	0.337	0.18178	T	0.393	0.34680	B	0.257	0.39298	B	0.026576	0.25897	N	0.188123	1	0.19238	N	1.055	0.26876	L	3.25	0.06762	T	-2.4	0.52776	N	0.141	0.20262	-0.9592	0.39330	T	0.012	0.04795	T	10	0.0057539046	0.00128	T	.	.	.	0.069	0.20116	.	.	0.0297737177859	0.01360	0.3454499937520817	0.34458	0.164113916074	0.18517	0.433351457119	0.29667	T	0.033824	0.23072	T	-0.290422	0.09595	T	-0.654947	0.08611	T	0.0220651653645309	0.00916	T	0.417158	0.10968	T	0.052634977	0.09844	0.045453	0.06119	0.052634977	0.09844	0.045453	0.06119	-5.794	0.44522	T	.	.	0.071	0.11124	B	.;.;.	.;.;.	-0.024567	0.04115	0.974	0.14583370763224782	0.00327	0.00218	0.01233	N	AEFDBI	0.012910	0.00155	N	-1.56437998921638	0.01452	0.06336967	-1.64152865485638	0.01420	0.06421677	0.00212614337787241	0.09174	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	1.91	0.679	0.17141	-0.405000	0.07258	-1.122000	0.06265	-1.135000	0.01450	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.2549:0.0:0.0:0.7451	5.651	0.16894	.	.	Lipocalin/cytosolic fatty-acid binding domain;Lipocalin/cytosolic fatty-acid binding domain;Lipocalin/cytosolic fatty-acid binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	728.29	13	chr9	133208141	.	T	A	728.29	.	AC=4;AF=0.100;AN=40;BaseQRankSum=0.587;DP=409;ExcessHet=0.7148;FS=3.670;InbreedingCoeff=-0.0039;MLEAC=4;MLEAF=0.100;MQ=55.70;MQRankSum=-4.259e+00;QD=8.28;ReadPosRankSum=0.216;SOR=0.315	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:20,2:22:15:.:.:15,0,541	16	0	4	1
chr9	136011887	136011887	T	C	exonic	NACC2	.	nonsynonymous SNV	NACC2:NM_144653:exon6:c.A1393G:p.M465V,	.	.	412	1071	39	0	0	39	0.0178817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.01	B	0.004	B	0.000	D	0.959	D	0.695	N	0.08	T	-1.046	T	0.080	T	0.139	2.061	12.85	4.09	0.835	3.407	10.044	0.058	.	0.0079	0.00858626	0.0168	0.0012	0.0127	0	0.0199	0.0166	0.0072	0.0266	0.0070762	1094	154602	rs61742050	0.0091	0.0090	0.0086	0.0096	0.0208	0.0090	0.0089	0.0199	0.0196	0.0007	0.0049	0.0204	0.0001	0.0039	0.0087	0.0089	0.0091	0.0208	0.0071	0.0071	0.0068	0.0076	0.0199	0.0068	0.0066	0.0167	0.0155	0.0013	0.0077	0.0049	0.0204	0.0002	0.0064	0.0102	0.0101	0.0109	0.0199	0.229	0.18371	T	1.0	0.01155	T	0.01	0.15535	B	0.004	0.10090	B	0.000000	0.84330	D	0.048243	0.958512	0.38079	D	0.895	0.22405	L	0.08	0.61559	T	0.27	0.04306	N	0.19	0.20793	-1.0459	0.15563	T	0.080	0.31824	T	10	0.0054822266	0.00121	T	.	.	.	0.058	0.16647	.	.	0.513503867364	0.50992	0.23018189085281895	0.22933	0.687941237011	0.60407	0.775818347931	0.78298	T	0.161096	0.50521	T	-0.491651	0.00636	T	-0.462743	0.26300	T	0.00460462130183993	0.00049	T	0.720928	0.33404	T	0.18694432	0.40126	0.20599216	0.44794	0.18694432	0.40125	0.20599216	0.44793	-1.213	0.01269	T	.	.	0.086	0.10449	B	.;.	.;.	1.990718	0.25293	16.71	0.95937216529691349	0.28233	0.89977	0.50804	D	AEFBHCI	0.204167	0.33063	N	-0.361306863027207	0.26859	1.46913	-0.176787345977006	0.32391	1.842405	0.99999991120564	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.26897	0.05253	2	0.591603	0.36755	0	.	.	5.23	4.09	0.47038	2.762000	0.47278	3.343000	0.37723	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0797:0.0:0.9203	10.044	0.41345	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	5713.11	36	chr9	136011887	.	T	C	5713.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.519;DP=1158;ExcessHet=0.1072;FS=2.888;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.40;ReadPosRankSum=1.01;SOR=0.550	GT:AD:DP:GQ:PL	0/1:84,110:194:99:3005,0,2116	19	0	2	0
chr9	136211364	136211364	A	T	exonic	QSOX2	.	nonsynonymous SNV	QSOX2:NM_181701:exon11:c.T1449A:p.F483L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.991	D	0.926	D	0.000	D	1.000	D	3.34	M	0.31	T	-0.108	T	0.456	T	0.799	3.411	17.52	-4.24	-1.070	1.009	11.137	0.440	0.311078465014	.	.	8.253e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs751996064	3.42e-06	3.42e-06	1.361e-06	5.5e-06	5.797e-05	1e-06	7.3e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	0	0	5.797e-05	6.565e-06	6.561e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.03	0.45393	D	0.019	0.59159	D	0.991	0.64070	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	3.09	0.87444	M	0.31	0.58613	T	-5.95	0.89152	D	0.875	0.87265	-0.1079	0.79917	T	0.456	0.78790	T	10	0.90104103	0.89465	D	0.311078	0.91187	D	0.440	0.74377	0.696	0.83313	0.329020015101	0.32502	0.8580980141259416	0.85772	0.874967012048	0.69533	0.599041879177	0.52769	T	0.487439	0.81350	T	0.0705151	0.60913	D	-0.0396323	0.67725	D	0.995465755462646	0.87473	D	0.850115	0.53348	D	0.24504066	0.47458	0.2960284	0.55635	0.24504066	0.47458	0.2960284	0.55634	-10.639	0.77642	D	.	.	0.965	0.88693	P	.	.	3.199184	0.43497	21.7	0.98955877119296631	0.49227	0.88976	0.49173	D	AEFGBI	0.208218	0.33432	N	-0.498035129546692	0.22144	1.180405	-0.648503961218094	0.18254	0.9743562	0.999580714271205	0.40607	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.72	-4.24	0.03519	1.138000	0.31103	-0.425000	0.09259	-0.624000	0.04539	1.000000	0.71638	0.000000	0.08366	0.849000	0.40138	0.6124:0.0:0.3876:0.0	11.137	0.47602	709	0.56835	ERV/ALR sulfhydryl oxidase domain|ERV/ALR sulfhydryl oxidase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1961.98	34	chr9	136211364	.	A	T	1961.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.690e-01;DP=858;ExcessHet=0.0000;FS=0.587;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.42;ReadPosRankSum=-3.370e-01;SOR=0.747	GT:AD:DP:GQ:PL	0/1:79,79:158:99:1976,0,1997	20	0	1	0
chr9	137199456	137199456	G	A	exonic	TPRN	.	nonsynonymous SNV	TPRN:NM_001128228:exon1:c.C1256T:p.P419L,	Deafness, autosomal recessive 79, Autosomal recessive	.	0	1505	17	0	0	17	0.00561612	.	.	655956	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.01	D	0.959	D	0.301	B	0.132	N	0.991	N	1.995	M	.	.	-0.985	T	0.078	T	0.342	1.775	11.89	2.49	1.763	0.342	7.942	0.085	.	0.0015	0.00239617	0.0049	0.0008	0.0015	0	0.0004	0.0043	0.0043	0.0125	0.0024903	385	154602	rs149753507	0.0024	0.0024	0.0022	0.0026	0.0097	0.0023	0.0023	0.0092	0.0090	0.0002	0.0007	7.708e-05	5.1e-05	0.0003	0.0028	0.0023	0.0014	0.0097	0.0016	0.0016	0.0016	0.0017	0.0072	0.0015	0.0014	0.0054	0.0047	0.0006	0	0.0009	0	0	9.407e-05	0.0034	0.0026	0.0005	0.0072	0.003	0.68238	D	0.027	0.66756	D	0.959	0.55135	D	0.301	0.41090	B	0.131938	0.18605	N	0.451388	0.991112	0.24080	N	1.75	0.45442	L	.	.	.	-2.17	0.49018	N	0.229	0.25745	-0.9848	0.33879	T	0.078	0.31133	T	9	0.0038635433	0.00073	T	.	.	.	0.085	0.24743	.	.	0.134241683229	0.13084	0.3390038826880828	0.33813	.	.	0.406837284565	0.26019	T	0.013847	0.11897	T	-0.385213	0.02887	T	-0.319427	0.42637	T	0.0101801590738123	0.00138	T	0.679332	0.30283	T	0.047417782	0.08101	0.09815122	0.23389	0.06648775	0.14309	0.08869811	0.20696	-4.193	0.26650	T	0.5639274063526069	0.63149	0.103	0.18372	B	.;.	.;.	3.246163	0.44328	21.9	0.99679859853542863	0.79174	0.11340	0.16569	N	AEFDGBHCI	0.080201	0.16210	N	-0.185639922118141	0.33731	1.917103	-0.323299599580389	0.27347	1.516871	0.999997072495709	0.74766	0.766844	0.99359	0	0.685571	0.66316	0	0.851219	0.99655	0	0.604282	0.37693	0	.	.	3.47	2.49	0.29274	1.018000	0.29604	8.154000	0.76719	0.586000	0.30580	0.001000	0.13787	1.000000	0.68203	0.107000	0.18608	0.0:0.0:0.757:0.243	7.942	0.29127	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	1417.98	33	chr9	137199456	.	G	A	1417.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.300e-01;DP=828;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.72;ReadPosRankSum=0.391;SOR=0.724	GT:AD:DP:GQ:PL	0/1:60,61:121:99:1432,0,1409	20	0	1	0
chr9	138023729	138023729	A	0	exonic	CACNA1B	.	.	.	.	.	350	755	29	2	386	419	0.0213869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1289.72	63	chr9	138023729	.	A	G,*	1289.72	.	AC=2,13;AF=0.048,0.310;AN=42;BaseQRankSum=-4.590e-01;DP=1294;ExcessHet=8.1482;FS=0.000;InbreedingCoeff=-0.3481;MLEAC=2,13;MLEAF=0.048,0.310;MQ=60.00;MQRankSum=0.00;QD=1.32;ReadPosRankSum=2.42;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:27,0,26:53:99:.:.:1011,1092,2160,0,1068,989	7	0	2	0
chr10	825249	825249	T	C	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon13:c.A1300G:p.S434G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.034	B	0.012	B	0.000	D	1.000	D	0.69	N	1.42	T	-1.076	T	0.048	T	0.262	1.919	12.37	5.57	2.133	5.075	10.134	0.023	0.00390173934956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.094	0.39645	T	0.034	0.20480	B	0.012	0.16012	B	0.000000	0.84330	D	0.124272	0.999909	0.50806	D	1.83	0.48079	L	1.42	0.33189	T	-1.32	0.32991	N	0.378	0.42149	-1.0760	0.08144	T	0.048	0.20553	T	10	0.09752631	0.17572	T	0.003902	0.09180	T	0.023	0.04649	0.235	0.16457	0.189391138174	0.18552	0.5409899109821052	0.54023	0.296725836107	0.32059	0.615102767944	0.55037	T	0.072244	0.34406	T	-0.147588	0.28690	T	-0.449777	0.27720	T	0.606496572494507	0.36659	D	0.835216	0.50504	T	0.1529754	0.34699	0.12790082	0.30779	0.1529754	0.34699	0.12790082	0.30779	-5.445	0.41350	T	.	.	0.098	0.19679	B	.;.	.;.	3.996231	0.58848	24.0	0.98635954636874601	0.43987	0.96367	0.68792	D	AEFDBI	0.396291	0.47282	N	-0.0822847856859552	0.38168	2.231465	0.131294021325016	0.46157	2.866445	0.999198281609489	0.38711	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	5.068000	0.64193	7.942000	0.75525	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0743:0.0:0.9257	10.134	0.41870	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	4683.86	92	chr10	825249	.	T	C	4683.86	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-3.067e+00;DP=2503;ExcessHet=20.9642;FS=199.373;InbreedingCoeff=-0.6154;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=2.22;ReadPosRankSum=2.13;SOR=13.018	GT:AD:DP:GQ:PL	0/1:87,57:144:99:547,0,1089	5	0	16	0
chr10	3135825	3135825	C	A	exonic	PFKP	.	nonsynonymous SNV	PFKP:NM_001323070:exon15:c.C1411A:p.Q471K	.	.	434	1047	39	2	0	43	0.0201217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.001	B	0.001	B	0.002	N	0.979	N	0.345	N	-0.97	T	-1.016	T	0.025	T	0.271	1.392	10.59	0.742	0.142	2.545	7.799	0.020	.	0.0016	0.00638978	0.0034	0.0005	0.0045	0	0	0.0019	0.0044	0.0136	0.0032665	505	154602	rs1804254	0.0023	0.0023	0.0018	0.0027	0.0139	0.0022	0.0022	0.0133	0.0130	0.0003	0.0046	0.0020	0	0.0002	0.0099	0.0014	0.0032	0.0139	0.0023	0.0023	0.0021	0.0026	0.0135	0.0021	0.0020	0.0109	0.0099	0.0005	0	0.0078	0.0014	0.0002	0	0.0102	0.0019	0.0076	0.0135	0.281	0.18691	T	0.279	0.21745	T	0.0	0.02946	B	0.0	0.01387	B	0.001530	0.38731	N	0.282681	0.97893	0.25216	N	1.56	0.39490	L	-1.28	0.79475	T	-1.09	0.38151	N	0.214	0.31478	-1.0157	0.25110	T	0.025	0.10866	T	10	0.007251948	0.00165	T	.	.	.	0.169	0.43123	.	.	0.617109349803	0.61401	0.5715476712037727	0.57082	0.245553725906	0.27076	0.319565057755	0.13355	T	0.189656	0.54395	T	-0.397201	0.02415	T	-0.331652	0.41285	T	0.00488657485751936	0.00052	T	0.645735	0.26930	T	0.1270293	0.29737	0.08154157	0.18539	0.1270293	0.29737	0.08154157	0.18539	-8.362	0.64852	D	.	.	0.089	0.12181	B	.;.;.	.;.;.	1.951134	0.24781	16.52	0.89643019086762443	0.18974	0.76491	0.37519	D	AEFBCI	0.273064	0.38855	N	-0.549113492516175	0.20512	1.081822	-0.551418355968868	0.20768	1.120472	0.998767270567485	0.37623	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.92	0.742	0.17490	2.628000	0.46143	0.622000	0.20140	-0.153000	0.12021	0.999000	0.42656	0.005000	0.19230	0.465000	0.28230	0.1415:0.2524:0.6061:0.0	7.799	0.28328	976	0.04745	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	2735.66	34	chr10	3135825	.	C	A	2735.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.82;DP=817;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=19.27;ReadPosRankSum=-1.053e+00;SOR=0.669	GT:AD:DP:GQ:PL	0/1:43,44:87:99:1091,0,926	19	1	1	0
chr10	5001555	5001555	C	G	exonic	AKR1C2	.	nonsynonymous SNV	AKR1C2:NM_001135241:exon2:c.G211C:p.D71H	Obesity, hyperphagia, and developmental delay (3);46XY sex reversal 8, Autosomal recessive	.	1	1475	45	1	0	47	0.0156823	.	.	1328166	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.994	D	0.931	D	0.000	D	0.775	D	2.215	M	0.63	T	-0.450	T	0.182	T	0.284	1.834	12.09	2.35	1.601	4.461	10.778	0.165	0.00744443064519	0.0008	0.00259585	0.0025	0.0008	0.0034	0	0	0.0018	0.0033	0.0083	0.0022833	353	154602	rs142672563	0.0018	0.0017	0.0015	0.0020	0.0196	0.0017	0.0017	0.0167	0.0156	0.0007	0.0036	0.0034	2.519e-05	0	0.0196	0.0011	0.0030	0.0088	0.0014	0.0014	0.0011	0.0017	0.0096	0.0012	0.0012	0.0074	0.0066	0.0002	0	0.0031	0.0043	0	0	0.0204	0.0012	0.0043	0.0096	0.001	0.78490	D	0.003	0.76473	D	0.988	0.66517	D	0.908	0.64494	P	0.000030	0.55875	D	0.000000	0.775386	0.34201	D	1.48	0.37141	L	0.63	0.53088	T	-5.21	0.87063	D	0.365	0.46086	-0.4503	0.70390	T	0.182	0.52919	T	10	0.013651252	0.00289	T	0.007444	0.19739	T	0.165	0.42395	.	.	0.751104417205	0.74885	0.3423853051164103	0.34151	0.575648504565	0.53556	0.513392090797	0.40696	T	0.147266	0.48527	T	-0.425084	0.01588	T	-0.378253	0.35927	T	0.0603747822868566	0.07227	T	0.886611	0.61335	D	0.846812	0.87101	0.6753474	0.80937	0.8253493	0.85584	0.7384825	0.84544	-11.47	0.82173	D	.	.	0.420	0.60651	A	.;.;.;.	.;.;.;.	3.684724	0.52465	23.2	0.99320986578777259	0.59393	0.76500	0.37524	D	AEFBHCI	0.682281	0.64535	D	0.302339213159387	0.56268	3.791319	0.156251632798845	0.47474	2.977087	0.99999978448377	0.74766	0.549168	0.22868	0	0.573888	0.26702	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	2.35	2.35	0.28166	5.057000	0.64120	2.548000	0.33250	0.306000	0.19039	1.000000	0.71638	0.021000	0.20819	0.565000	0.30531	0.0:1.0:0.0:0.0	10.778	0.45561	982	0.03397	NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain;.	.	.	.	.	.	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	0.02381	4961.98	34	chr10	5001555	.	C	G	4961.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.250e-01;DP=1085;ExcessHet=0.0000;FS=2.734;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.70;MQRankSum=0.522;QD=13.45;ReadPosRankSum=-1.400e-01;SOR=0.839	GT:AD:DP:GQ:PL	0/1:180,189:369:99:4976,0,4888	20	0	1	0
chr10	5977548	5977548	G	C	exonic	IL15RA	.	nonsynonymous SNV	IL15RA:NM_001256765:exon1:c.C50G:p.P17R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.891e-06	1.026e-05	1.022e-05	7.441e-06	0.0003	4.5e-06	3.28e-06	3.09e-06	1.98e-06	0	0	0	0	0	0.0003	7.419e-06	2.202e-05	2.934e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	0.999924	0.19486	N	.	.	.	.	.	.	.	.	.	0.094	0.07398	.	.	.	.	.	.	.	0.13821691	0.26287	T	.	.	.	.	.	.	.	0.503930629158	0.50032	0.10235018402095643	0.10165	.	.	0.807409465313	0.83095	D	.	.	.	-0.225891	0.17195	T	-0.562253	0.16165	T	.	.	.	0.273273	0.04638	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.03849	B	.	.	-0.010533	0.04210	1.029	0.91592704437096562	0.20875	0.00199	0.01145	N	ALL	.	.	.	.	.	.	.	.	.	0.999999999999985	0.74766	0.163419	0.03694	0	0.090139	0.02499	0	0.172434	0.04157	0	0.063338	0.01809	2	0.120163	0.24643	3.5	-3.84	0.03976	-1.889000	0.01706	-1.759000	0.04778	-0.308000	0.06107	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1477:0.3101:0.2876:0.2545	1.061	0.01501	715	0.56137	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	378.98	24	chr10	5977548	.	G	C	378.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=564;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.58;ReadPosRankSum=0.206;SOR=0.914	GT:AD:DP:GQ:PL	0/1:12,14:26:99:393,0,284	20	0	1	0
chr10	7642023	7642023	G	A	exonic	ITIH5	.	nonsynonymous SNV	ITIH5:NM_001001851:exon3:c.C203T:p.T68M	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.607	P	0.143	B	0.014	N	0.984	N	.	.	1.96	T	-1.056	T	0.035	T	0.197	0.766	8.051	3.5	1.393	6.244	12.365	0.101	0.00832157905078	.	.	3.295e-05	0	0	0	0	5.994e-05	0	0	3.23e-05	5	154602	rs377349294	2.6e-05	2.599e-05	2.859e-05	2.338e-05	4.638e-05	1.933e-05	1.692e-05	2.117e-05	1.862e-05	0	0	0	0	1.872e-05	0	2.968e-05	0	4.638e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	6.541e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	6.541e-05	0	0	0	0	2.939e-05	0	0	0.121	0.27783	T	0.195	0.28032	T	0.273	0.31830	B	0.027	0.21085	B	0.014441	0.28535	N	0.443954	0.999997	0.08975	N	.	.	.	1.96	0.22270	T	-1.35	0.33598	N	0.125	0.13198	-1.0555	0.12908	T	0.035	0.15074	T	9	0.32873195	0.50138	T	0.008322	0.22029	T	0.101	0.28911	.	.	0.290962096972	0.28708	0.456090202809605	0.45527	.	.	0.408132970333	0.26198	T	0.07904	0.36033	T	-0.292816	0.09356	T	-0.527935	0.19493	T	0.6968132853508	0.40568	D	0.849315	0.53448	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.19478	B	.;.	.;.	3.238832	0.44204	21.9	0.92629167050592454	0.22100	0.91767	0.54220	D	AEFBI	0.766156	0.70242	D	-0.194883950996168	0.33348	1.890859	-0.181666254940155	0.32211	1.830319	0.533180049887467	0.21192	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.71	3.5	0.39181	6.350000	0.72965	5.726000	0.49496	0.676000	0.76740	1.000000	0.71638	0.993000	0.31925	0.316000	0.24877	0.074:0.1226:0.8034:0.0	12.365	0.54554	958	0.09170	VIT domain|VIT domain|VIT domain;VIT domain|VIT domain|VIT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1160.98	33	chr10	7642023	.	G	A	1160.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.47;DP=873;ExcessHet=0.0000;FS=2.504;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.55;ReadPosRankSum=-2.015e+00;SOR=0.962	GT:AD:DP:GQ:PL	0/1:64,46:110:99:1175,0,1447	20	0	1	0
chr10	7735067	7735067	C	T	exonic	ITIH2	.	nonsynonymous SNV	ITIH2:NM_002216:exon15:c.C1933T:p.P645S,	.	.	421	1094	7	0	0	7	0.00318907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.306	B	0.08	B	0.145	N	0.630	D	1.48	L	4.84	T	-1.011	T	0.006	T	0.138	-0.645	1.158	3.49	1.340	0.912	11.837	0.030	0.00898545296766	0.0002	.	0.0001	0	0	0	0	0.0001	0	0.0004	9.06e-05	14	154602	rs145252859	9.326e-05	9.371e-05	8.462e-05	0.0001	0.0014	8.045e-05	7.537e-05	0.0007	0.0005	0	0	0	0	0	0.0014	7.376e-05	0.0001	0.0004	1.971e-05	1.97e-05	1.284e-05	2.689e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0.0002	0.488	0.08042	T	0.676	0.06186	T	0.306	0.32693	B	0.08	0.28873	B	0.144710	0.18170	N	0.567398	0.629586	0.32778	D	1.335	0.33326	L	4.84	0.01481	T	-0.34	0.12661	N	0.511	0.54234	-1.0108	0.26666	T	0.006	0.02055	T	10	0.15597627	0.29386	T	0.008985	0.23655	T	0.030	0.07022	.	.	0.269111216191	0.26524	0.41925154262439507	0.41841	0.123788176146	0.13936	0.390999913216	0.23811	T	0.012351	0.10875	T	-0.516076	0.00464	T	-0.649082	0.09018	T	0.0189079230367156	0.00600	T	0.79872	0.44372	T	0.03907718	0.05327	0.053436205	0.09000	0.03907718	0.05327	0.053436205	0.08999	-3.625	0.18219	T	.	.	0.080	0.11749	B	.;.	.;.	2.032247	0.25831	16.90	0.62371256303776212	0.06945	0.89930	0.50723	D	AEFDBHCI	0.901697	0.84870	D	-0.445597519700092	0.23890	1.286089	-0.413741586803119	0.24594	1.347609	0.898456412307015	0.26027	0.55562	0.30534	0	0.573888	0.26702	0	0.68496	0.61776	0	0.564101	0.26826	0	.	.	5.53	3.49	0.39065	4.462000	0.59857	4.459000	0.43452	0.585000	0.30472	0.968000	0.34134	0.997000	0.33255	0.003000	0.05239	0.1312:0.7982:0.0:0.0706	11.837	0.51608	917	0.20147	.;.	.	.	.	.	.	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	0.02381	1078.98	38	chr10	7735067	.	C	T	1078.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.430;DP=850;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.36;ReadPosRankSum=0.530;SOR=0.714	GT:AD:DP:GQ:PL	0/1:51,44:95:99:1093,0,1287	20	0	1	0
chr10	11018120	11018120	C	T	exonic	CELF2	.	nonsynonymous SNV	CELF2:NM_001326340:exon1:c.C31T:p.P11S	.	.	416	1101	5	0	0	5	0.00226552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.963	D	0.346	B	.	.	1.000	D	0.55	N	-0.36	T	-0.893	T	0.159	T	0.196	2.705	15.01	3.03	1.406	2.785	14.388	0.170	0.701927002572	.	.	4.319e-05	0	0	0	0	1.579e-05	0.0012	0.0002	3.23e-05	5	154602	rs375248006	4.321e-05	4.583e-05	3.354e-05	5.296e-05	0.0026	3.403e-05	3.115e-05	0.0016	0.0012	0	2.939e-05	0	0	0	0.0026	2.544e-05	0.0001	0.0001	2.639e-05	2.627e-05	3.868e-05	1.351e-05	0.0001	8.17e-06	5.16e-06	2.271e-05	9.11e-06	0	0	0.0001	0	0	0	0	2.947e-05	0	0	0.0	0.91255	D	0.333	0.18395	T	0.963	0.55692	D	0.346	0.42645	B	.	.	.	.	1	0.81001	D	.	.	.	-0.36	0.68754	T	-0.31	0.12099	N	0.363	0.42050	-0.8929	0.48677	T	0.159	0.49195	T	9	0.34380776	0.51386	T	0.701927	0.97562	D	0.170	0.43303	0.548	0.66296	0.436121992451	0.43229	0.5489377395832935	0.54819	.	.	0.903862893581	0.96857	D	.	.	.	-0.245634	0.14638	T	-0.311178	0.43532	T	0.207208750355084	0.20807	T	0.983368	0.94382	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266	0.59986	B	.;.;.	.;.;.	3.608286	0.50997	23.0	0.99610420585480441	0.74753	0.69500	0.34212	D	AEFDBHCIJ	0.364721	0.45316	N	-0.138070849526641	0.35744	2.056985	-0.138622804529143	0.33850	1.940646	0.999999999987414	0.74766	0.72623	0.87236	0	0.552344	0.17405	0	0.594344	0.31042	0	0.372554	0.06265	0	.	.	3.03	3.03	0.34070	2.941000	0.48703	3.496000	0.38747	0.366000	0.20181	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	14.388	0.66527	891	0.26808	.;.;.	.	.	.	.	.	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	0.02381	1813.98	34	chr10	11018120	.	C	T	1813.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.592;DP=867;ExcessHet=0.0000;FS=2.659;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.61;ReadPosRankSum=0.031;SOR=0.514	GT:AD:DP:GQ:PL	0/1:89,82:171:99:1828,0,2006	20	0	1	0
chr10	15687977	15687977	C	G	exonic	ITGA8	.	nonsynonymous SNV	ITGA8:NM_001291494:exon3:c.G405C:p.W135C	Renal hypodysplasia/aplasia 1, Autosomal recessive	.	430	1089	3	0	0	3	0.00137552	.	.	3046802	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	1.0	D	0.000	D	1.000	D	3.12	M	0.34	T	-0.020	T	0.440	T	0.986	3.529	18.01	5.5	2.583	7.487	19.389	0.661	0.157037906406	.	0.000798722	0.0005	0	8.637e-05	0.0001	0	4.496e-05	0	0.0033	0.0004204	65	154602	rs554278300	0.0002	0.0002	9.668e-05	0.0003	0.0030	0.0002	0.0002	0.0027	0.0026	2.987e-05	4.472e-05	0	2.519e-05	0	0.0012	1.709e-05	0.0001	0.0030	0.0001	0.0001	8.994e-05	0.0001	0.0031	7.573e-05	6.278e-05	0.0019	0.0016	0	0	0	0	0	0	0.0034	2.94e-05	0	0.0031	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.575	0.93507	H	0.34	0.58176	T	-10.72	0.99165	D	0.966	0.97643	-0.0196	0.81847	T	0.440	0.77827	T	10	0.14854962	0.28129	T	0.157038	0.83770	D	0.661	0.87332	0.676	0.81398	0.818406873803	0.81670	0.9403884280014376	0.94019	0.516649995381	0.49549	0.818479061127	0.84795	D	0.817777	0.95512	D	0.022262	0.54688	T	0.254898	0.85854	D	0.390408255640855	0.28580	T	0.989401	0.96508	D	0.90881336	0.92184	0.8328991	0.90374	0.90881336	0.92185	0.8328991	0.90374	-12.073	0.85205	D	.	.	0.986	0.92379	P	.	.	5.265524	0.88415	29.6	0.99251908806527156	0.56891	0.98829	0.87402	D	AEFBI	0.944893	0.95253	D	0.825553101014075	0.87677	9.301142	0.742055710169593	0.85564	8.617785	0.999999999997117	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.5	5.5	0.81386	7.568000	0.81546	7.649000	0.63599	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:1.0:0.0:0.0	19.389	0.94560	836	0.38045	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	625.98	44	chr10	15687977	.	C	G	625.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.812;DP=935;ExcessHet=0.0000;FS=1.776;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.66;ReadPosRankSum=-3.260e-01;SOR=0.623	GT:AD:DP:GQ:PL	0/1:63,31:94:99:640,0,1530	20	0	1	0
chr10	16484415	16484415	G	A	exonic	PTER	.	nonsynonymous SNV	PTER:NM_001261836:exon2:c.G31A:p.V11I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.999	D	0.951	D	0.000	N	1.000	D	2.585	M	0.23	T	-0.140	T	0.402	T	0.65	3.505	17.91	5.18	1.590	8.025	15.151	0.357	0.015242266151	0.0002	.	0.0001	9.617e-05	0	0.0001	0	0.0001	0	0.0002	0.00011	17	154602	rs146692031	6.802e-05	6.772e-05	5.467e-05	8.151e-05	0.0009	5.695e-05	5.284e-05	0.0003	0.0002	3.029e-05	9.316e-05	0	5.042e-05	0	0.0009	7.115e-05	3.328e-05	7.095e-05	0.0001	0.0001	0.0001	0.0001	0.0004	7.095e-05	5.751e-05	6.835e-05	4.241e-05	4.821e-05	0	6.545e-05	0	0.0004	0	0.0068	0.0001	0.0005	0.0002	0.0	0.91255	D	0.052	0.47581	T	0.999	0.77913	D	0.951	0.68939	D	0.000000	0.84330	N	0.051516	1	0.81001	D	3.21	0.89262	M	0.23	0.59717	T	-0.83	0.22727	N	0.756	0.75466	-0.1404	0.79155	T	0.402	0.75295	T	10	0.78580475	0.78236	D	0.015242	0.35857	T	0.357	0.67782	.	.	0.567496836917	0.56414	0.7268803541954131	0.72632	0.152353913493	0.17194	0.537826299667	0.44138	T	0.237005	0.60459	T	-0.017022	0.49277	T	-0.0139184	0.69428	D	0.416269540786743	0.29552	T	0.945305	0.79188	D	0.47518155	0.65607	0.46325782	0.68840	0.47518155	0.65607	0.46325782	0.68841	-8.668	0.65537	D	.	.	0.176	0.42563	B	.;.;.	.;.;.	4.303245	0.65722	24.9	0.99740261808944497	0.83409	0.98537	0.83843	D	AEFBI	0.791552	0.72011	D	0.525175558778732	0.68583	5.237221	0.397616484442195	0.61416	4.341604	0.99999669577481	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	6.08	5.18	0.71140	8.152000	0.89578	8.553000	0.77536	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.213000	0.22268	0.0671:0.0:0.9329:0.0	15.151	0.72377	900	0.24599	.;.;.	.	.	.	.	.	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	0.02381	1415.98	35	chr10	16484415	.	G	A	1415.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=785;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.45;ReadPosRankSum=-6.090e-01;SOR=0.717	GT:AD:DP:GQ:PL	0/1:43,55:98:99:1430,0,986	20	0	1	0
chr10	24533161	24533161	C	T	exonic	KIAA1217	.	nonsynonymous SNV	KIAA1217:NM_001282769:exon11:c.C2387T:p.P796L	.	.	424	1092	6	0	0	6	0.00273973	.	.	712303	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.25	M	0.37	T	-0.354	T	0.344	T	0.719	4.400	23.3	5.5	2.758	2.464	15.248	0.204	.	7.7e-05	0.014377	0.0065	0.0002	8.643e-05	0.0001	0.0002	1.501e-05	0.0066	0.0469	0.0056791	878	154602	rs374052578	0.0026	0.0026	0.0015	0.0037	0.0418	0.0026	0.0025	0.0407	0.0402	0.0001	2.237e-05	3.826e-05	0.0002	0	0.0027	2.518e-05	0.0029	0.0418	0.0014	0.0014	0.0008	0.0019	0.0421	0.0012	0.0012	0.0374	0.0356	4.813e-05	0	6.542e-05	0	0.0002	0	0	0	0.0005	0.0421	0.001	0.78490	D	0.014	0.74150	D	0.985	0.90584	D	0.535	0.92359	P	0.000168	0.48594	D	0.183352	0.999998	0.58761	D	3.225	0.89467	M	0.37	0.57729	T	-4.45	0.77717	D	0.25	0.29659	-0.3542	0.73432	T	0.344	0.70956	T	10	0.003152907	0.00053	T	.	.	.	0.204	0.49076	.	.	0.733941746038	0.73157	0.31898618305290777	0.31811	0.453264928441	0.45020	0.383235931396	0.22715	T	0.622218	0.88174	D	-0.199018	0.20947	T	-0.0257958	0.68647	D	0.207521250215213	0.20823	T	0.920508	0.71260	D	0.20416829	0.42518	0.2791307	0.53879	0.20416829	0.42518	0.2791307	0.53878	-7.646	0.65491	D	.	.	0.068	0.05756	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.533528	0.49592	22.8	0.99885938527651286	0.96126	0.82877	0.42047	D	AEFDBI	0.377119	0.46101	N	0.23706804721704	0.53002	3.471266	0.213978792614642	0.50622	3.252374	0.999999719723584	0.74766	0.732398	0.92422	0	0.670034	0.63936	0	0.743671	0.96076	0	0.668105	0.65232	0	.	.	5.5	5.5	0.81386	3.343000	0.51884	3.747000	0.39671	0.599000	0.40250	0.939000	0.32602	0.997000	0.33255	0.402000	0.26827	0.0:1.0:0.0:0.0	15.248	0.73212	936	0.14734	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2389.11	34	chr10	24533161	.	C	T	2389.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.66;DP=865;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=0.890;SOR=0.663	GT:AD:DP:GQ:PL	0/1:63,43:106:99:1069,0,1581	19	0	2	0
chr10	27204498	27204498	T	C	exonic	ACBD5	.	nonsynonymous SNV	ACBD5:NM_001301254:exon9:c.A976G:p.I326V	.	.	.	.	.	.	.	.	.	.	.	1077011	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.41	T	0.783	P	0.205	B	0.000	N	0.924	D	1.525	L	2.37	T	-1.052	T	0.061	T	0.145	0.694	7.706	2.04	0.446	-0.091	9.973	0.011	0.00312484831803	.	.	0.0004	0	0.0045	0	0	0	0	0	0.0003363	52	154602	rs772621096	9.03e-05	9.029e-05	9.393e-05	8.663e-05	0.0029	7.756e-05	7.3e-05	0.0025	0.0023	0	0.0029	0	0	0	0	1.799e-06	3.312e-05	0	7.884e-05	7.88e-05	0.0001	4.034e-05	0.0008	4.496e-05	3.512e-05	0.0005	0.0004	0	0	0.0008	0	0	0	0	0	0	0	0.254	0.17701	T	0.395	0.15255	T	0.783	0.44368	P	0.205	0.37080	B	0.000305	0.45977	N	0.241877	0.570854	0.36749	D	2.06	0.56677	M	2.36	0.34253	T	-0.39	0.14193	N	0.284	0.32148	-1.0522	0.13790	T	0.061	0.25383	T	10	0.009190261	0.00208	T	0.003125	0.06786	T	0.011	0.01250	.	.	0.442775082573	0.43898	0.09757736381252521	0.09688	0.107368357967	0.12116	0.484681159258	0.36702	T	0.014771	0.12515	T	-0.531338	0.00377	T	-0.538112	0.18482	T	0.0452595222798661	0.04650	T	0.850515	0.54589	D	0.03167814	0.03051	0.048455138	0.07201	0.042955823	0.06609	0.042826634	0.05189	-4.152	0.32559	T	0.0921755191099624	0.05928	0.066	0.04198	B	.;.;.;.;.	.;.;.;.;.	1.301724	0.17036	12.92	0.82080041629631928	0.14008	0.36703	0.25594	N	AEFBI	0.108111	0.21518	N	-0.431662278019326	0.24366	1.315145	-0.372333690979298	0.25825	1.422623	0.00693316079243253	0.11345	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.71	2.04	0.25787	0.006000	0.13051	0.452000	0.18532	0.665000	0.62972	0.504000	0.26986	0.999000	0.35428	0.949000	0.49496	0.0:0.3326:0.0:0.6674	9.973	0.40939	784	0.47045	.;.;.;.;.	.	.	.	.	.	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	0.07143	70.44	105	chr10	27204498	.	T	C	70.44	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.544e+00;DP=945;ExcessHet=0.3300;FS=154.535;InbreedingCoeff=-0.0739;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.26;ReadPosRankSum=2.03;SOR=7.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,16:90:9:0|1:27204498_T_C:9,0,2233:27204498	18	0	3	0
chr10	29490860	29490860	C	T	exonic	SVIL	.	nonsynonymous SNV	SVIL:NM_003174:exon20:c.G2901A:p.M967I	.	.	436	991	95	0	0	95	0.045739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.04	B	0.014	B	0.000	D	1.000	D	1.485	L	2.86	T	-0.383	T	0.441	T	0.498	0.749	7.970	2.98	0.848	5.444	11.369	0.196	.	.	.	0.0030	0.0008	0.0003	0.0003	0.0025	0.0015	0.0045	0.0140	3.84e-05	1	26028	rs757300194	2.794e-05	0.0018	1.94e-05	3.66e-05	0.0001	2.106e-05	1.854e-05	6.565e-05	4.989e-05	3.027e-05	4.616e-05	0.0001	5.135e-05	0	0	1.92e-05	1.694e-05	0.0001	2.02e-05	0.0009	2.624e-05	1.383e-05	3.009e-05	5.37e-06	2.49e-06	4.99e-06	1.87e-06	0	0	0	0	0	9.783e-05	0	3.009e-05	0	0	0.251	0.26300	T	0.338	0.19188	T	0.001	0.21238	B	0.002	0.16862	B	0.000000	0.84330	D	0.080390	0.999644	0.48019	D	1.275	0.32135	L	2.83	0.10771	T	-2.01	0.47683	N	0.833	0.82862	-0.3829	0.72561	T	0.441	0.77934	T	10	0.01062569	0.00236	T	.	.	.	0.196	0.47777	0.315	0.29096	0.102598925029	0.09809	0.5538617382080628	0.55312	0.32964423376	0.35070	0.654423296452	0.60614	T	0.043114	0.26399	T	-0.123078	0.32621	T	-0.41457	0.31698	T	0.0747122019529343	0.09297	T	0.89841	0.64469	D	0.29034367	0.52024	0.28399682	0.54395	0.29034367	0.52024	0.28399682	0.54394	-10.193	0.75058	D	0.16825139534427275	0.21027	0.460	0.69288	A	.;.;.	.;.;.	3.963416	0.58142	23.9	0.74794420715289511	0.10829	0.96717	0.70563	D	AEFDGBI	0.421191	0.48771	N	-0.482251454692371	0.22663	1.211673	-0.409489271843162	0.24719	1.355184	0.986166000563011	0.31015	0.706298	0.61202	0	0.601575	0.49859	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	3.88	2.98	0.33575	5.584000	0.67185	6.001000	0.52488	0.449000	0.21268	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.9105:0.0:0.0895	11.369	0.48927	975	0.05339	.;.;.	.	.	.	.	.	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	0.09524	228.28	102	chr10	29490860	.	C	T	228.28	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.15;DP=1424;ExcessHet=0.6776;FS=23.683;InbreedingCoeff=-0.0944;MLEAC=3;MLEAF=0.071;MQ=58.34;MQRankSum=-1.102e+01;QD=0.45;ReadPosRankSum=-4.118e+00;SOR=2.883	GT:AD:DP:GQ:PL	0/1:135,16:151:41:41,0,3602	17	0	4	0
chr10	30849149	30849149	G	A	exonic	ZNF438	.	nonsynonymous SNV	ZNF438:NM_001143767:exon5:c.C1256T:p.P419L	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.01	B	0.006	B	0.562	N	1.000	N	1.53	L	3.88	T	-0.938	T	0.012	T	0.069	0.789	8.156	2.87	0.782	0.246	9.173	0.052	0.00324306584018	.	.	6.644e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs564286076	3.147e-05	3.147e-05	2.042e-05	4.264e-05	0.0009	2.413e-05	2.158e-05	0.0003	0.0002	0	0	0	0	0	0.0009	3.327e-05	4.968e-05	1.159e-05	6.577e-06	6.568e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.439	0.10378	T	0.459	0.12704	T	0.01	0.15535	B	0.006	0.12133	B	0.562086	0.11326	N	0.837369	1	0.08975	N	0.9	0.23182	L	3.88	0.03570	T	-2.48	0.54059	N	0.076	0.06190	-0.9375	0.43010	T	0.012	0.04558	T	10	0.07770336	0.12295	T	0.003243	0.07147	T	0.052	0.14661	0.466	0.53729	0.405560941015	0.40167	0.2904508644945908	0.28958	0.0709151228016	0.07949	0.196160048246	0.00353	T	0.043365	0.26478	T	-0.475318	0.00788	T	-0.715987	0.04992	T	0.036011391533327	0.02983	T	0.760024	0.38453	T	0.057176296	0.11346	0.06770887	0.14045	0.057176296	0.11346	0.06770887	0.14045	-2.254	0.04627	T	.	.	0.076	0.09481	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.415688	0.18319	13.67	0.67827193952532017	0.08472	0.09840	0.15504	N	AEFBI	0.064469	0.12520	N	-0.652414408703921	0.17391	0.8944529	-0.608219382274762	0.19282	1.033818	0.00716780701241352	0.11400	0.651	0.46895	0	0.633656	0.55848	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.73	2.87	0.32523	0.558000	0.23174	1.756000	0.28514	0.676000	0.76740	0.010000	0.18352	0.179000	0.23406	0.991000	0.66497	0.3114:0.0:0.6886:0.0	9.173	0.36254	964	0.07719	.;.;.;.;.;.;.	.	.	.	.	.	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	0.02381	3103.98	33	chr10	30849149	.	G	A	3103.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=899;ExcessHet=0.0000;FS=5.585;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.64;ReadPosRankSum=0.519;SOR=0.395	GT:AD:DP:GQ:PL	0/1:70,106:176:99:3118,0,1863	20	0	1	0
chr10	37952251	37952251	T	A	exonic	ZNF25	.	nonsynonymous SNV	ZNF25:NM_001329650:exon6:c.A1247T:p.H416L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	0.999	D	3.71	H	-2.18	D	0.901	D	0.840	D	0.888	4.175	21.6	4.76	2.122	7.485	12.543	0.852	0.0749036081092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.656e-05	0	6.568e-06	6.563e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000487	0.43931	D	0.000000	0.99948	0.47237	D	3.88	0.95983	H	-2.18	0.86722	D	-10.84	0.99221	D	0.878	0.87590	0.901	0.95687	D	0.840	0.94656	D	10	0.9714155	0.96755	D	0.074904	0.72156	D	0.852	0.95433	0.811	0.92719	0.990378510434	0.99027	0.41142444468234673	0.41058	0.348541262083	0.36718	0.740057826042	0.72981	T	0.43237	0.78016	T	0.421404	0.91093	D	0.367541	0.90982	D	0.999875068664551	0.99471	D	0.661134	0.27033	T	0.8578233	0.87921	0.7787517	0.86953	0.8578233	0.87922	0.7787517	0.86954	-12.701	0.88094	D	.	.	0.891	0.82143	P	.	.	4.224205	0.63913	24.6	0.97954495237322625	0.37129	0.99612	0.97981	D	AEFDBI	0.852516	0.76943	D	0.902240392591658	0.91869	11.10774	0.800095407817791	0.89801	10.12647	0.999999982980011	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	4.76	4.76	0.60189	5.981000	0.70207	7.802000	0.69178	0.578000	0.29377	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	12.543	0.55530	730	0.54327	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1236.98	35	chr10	37952251	.	T	A	1236.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.37;DP=800;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.35;ReadPosRankSum=-6.400e-02;SOR=0.706	GT:AD:DP:GQ:PL	0/1:63,46:109:99:1251,0,1723	20	0	1	0
chr10	47502708	47502708	C	T	exonic	AGAP9	.	nonsynonymous SNV	AGAP9:NM_001190810:exon8:c.G1421A:p.R474H,	.	.	415	1085	19	3	0	25	0.0113895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00259585	0.0029	0.0143	0	0	0	0	0	0	0.0005379	14	26028	rs1456306199	0.0011	0.0012	0.0008	0.0014	0.0098	0.0011	0.0011	0.0092	0.0090	0.0001	0.0001	0.0007	5.04e-05	0.0004	0.0090	0.0006	0.0014	0.0098	0.0008	0.0008	0.0006	0.0010	0.0100	0.0007	0.0006	0.0077	0.0069	0.0003	0.0022	6.784e-05	0.0003	0.0002	0.0004	0.0174	0.0006	0.0015	0.0100	0.07	0.35349	T	0.123	0.35582	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	0.42888	T	-3.69	0.70432	D	0.219	0.24510	.	.	.	.	.	.	.	0.011139333	0.00245	T	.	.	.	.	.	.	.	0.341460817117	0.33762	0.04041368958705708	0.03987	.	.	.	.	.	.	.	.	0.0361914	0.56543	T	-0.18579	0.55983	T	.	.	.	0.764624	0.39166	T	.	.	.	.	.	.	.	.	-6.686	0.51705	T	.	.	0.100	0.16973	B	.	.	1.788199	0.22733	15.74	0.72366461872350973	0.09948	0.03806	0.09138	N	AEFI	.	.	.	.	.	.	.	.	.	1.49817134109118E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.277913	0.05378	0	0.101684	0.03063	0	0.0891036	0.20137	0.109	0.109	0.13884	0.984000	0.29163	-0.373000	0.09593	0.148000	0.17689	0.001000	0.13787	0.000000	0.08366	0.063000	0.16184	2.0E-4:0.5106:0.4891:1.0E-4	3.703	0.07919	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4701.11	43	chr10	47502708	.	C	T	4701.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.99;DP=2136;ExcessHet=0.1072;FS=1.841;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=46.62;MQRankSum=4.87;QD=8.13;ReadPosRankSum=-1.101e+00;SOR=0.722	GT:AD:DP:GQ:PL	0/1:197,96:293:99:2248,0,4776	19	0	2	0
chr10	49107954	49107954	C	T	exonic	VSTM4	.	nonsynonymous SNV	VSTM4:NM_001031746:exon2:c.G97A:p.V33M	.	.	429	1080	13	0	0	13	0.00598251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.933	D	0.077	N	0.997	N	1.59	L	-0.22	T	-0.705	T	0.319	T	0.337	3.385	17.42	3.96	2.750	1.187	4.244	0.143	0.0131571431453	0.0011	0.000599042	0.0015	0.0003	0.0004	0	0	0.0019	0.0037	0.0020	0.0010026	155	154602	rs148517338	0.0012	0.0012	0.0012	0.0013	0.0059	0.0012	0.0012	0.0044	0.0038	9.037e-05	0.0006	3.866e-05	2.539e-05	3.79e-05	0.0059	0.0013	0.0016	0.0023	0.0008	0.0008	0.0010	0.0007	0.0015	0.0007	0.0007	0.0013	0.0012	0.0002	0	0.0004	0.0006	0	0	0.0102	0.0015	0.0014	0.0008	0.019	0.53900	D	0.235	0.50226	T	0.999	0.77913	D	0.921	0.66815	D	0.076635	0.21151	N	0.530532	0.996761	0.22909	N	2.175	0.60977	M	-0.22	0.66474	T	-0.61	0.20791	N	0.165	0.23253	-0.7047	0.60212	T	0.319	0.68813	T	10	0.02429533	0.00663	T	0.013157	0.32344	T	0.143	0.38195	.	.	0.677134000145	0.67439	0.5292290068773372	0.52846	0.355680316561	0.37321	0.651309609413	0.60171	T	0.074755	0.35016	T	-0.363331	0.03946	T	-0.307906	0.43882	T	0.0307017693348963	0.02099	T	0.865313	0.57103	D	0.063840926	0.13485	0.07126395	0.15241	0.063840926	0.13484	0.07126395	0.15241	-6.062	0.49899	T	.	.	0.145	0.42706	B	.;.	.;.	4.443698	0.69020	25.3	0.99865748413306032	0.94366	0.26880	0.23119	N	AEFDBI	0.144660	0.26768	N	0.476844006853985	0.65742	4.860716	0.449637236952505	0.64694	4.730462	0.999994314011266	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.615948	0.41167	0	0.620846	0.47308	0	.	.	5.83	3.96	0.45097	1.237000	0.32298	2.637000	0.33729	0.599000	0.40250	0.643000	0.28111	0.993000	0.31925	0.980000	0.58198	0.21:0.6138:0.0:0.1762	4.244	0.10117	.	.	Immunoglobulin-like domain|Immunoglobulin subtype;.	.	.	.	.	.	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	0.04762	1325.11	43	chr10	49107954	.	C	T	1325.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.78;DP=853;ExcessHet=0.1072;FS=0.736;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.14;ReadPosRankSum=0.762;SOR=0.556	GT:AD:DP:GQ:PL	0/1:26,23:49:99:633,0,656	19	0	2	0
chr10	59247700	59247700	C	T	exonic	FAM13C	.	nonsynonymous SNV	FAM13C:NM_001001971:exon12:c.G1378A:p.E460K	.	.	435	1077	10	0	0	10	0.00462107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.986	D	0.836	P	0.000	D	1.000	D	2.19	M	0.69	T	-0.551	T	0.262	T	0.939	5.670	36	5.03	2.832	4.657	17.254	0.372	0.00847047838297	0.0018	0.000199681	0.0013	9.61e-05	0.0004	0	0	0.0015	0.0022	0.0028	0.0012484	193	154602	rs150716676	0.0020	0.0020	0.0019	0.0020	0.0057	0.0019	0.0019	0.0042	0.0037	0.0004	0.0005	7.659e-05	0	0.0004	0.0057	0.0021	0.0022	0.0034	0.0012	0.0012	0.0012	0.0012	0.0029	0.0011	0.0010	0.0018	0.0016	0.0004	0	0.0008	0	0	0.0005	0	0.0020	0.0005	0.0029	0.008	0.58626	D	0.004	0.76473	D	0.979	0.61523	D	0.797	0.59919	P	0.000000	0.84330	D	0.000000	0.999768	0.81001	D	2.675	0.78361	M	.	.	.	-3.52	0.68412	D	0.707	0.73826	-0.5512	0.66741	T	0.262	0.63253	T	10	0.04960665	0.04574	T	0.00847	0.22407	T	0.372	0.69102	.	.	0.74503161036	0.74274	0.6266045424087682	0.62593	.	.	0.725683569908	0.70877	T	0.159969	0.50362	T	0.0853968	0.62666	D	0.346212	0.90167	D	0.117631539702415	0.14196	T	0.972403	0.90119	D	0.6654884	0.76192	0.52030736	0.72285	0.6654884	0.76193	0.52030736	0.72286	-10.837	0.80722	D	.	.	0.686	0.72376	P	.;.;.;.;.;.	.;.;.;.;.;.	5.421514	0.90701	31	0.99901960252033972	0.97350	0.95358	0.64409	D	AEFBI	0.814180	0.73647	D	0.729941379179707	0.81597	7.559268	0.731627991716908	0.84779	8.388375	0.999998118423766	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.96	5.03	0.67015	5.841000	0.69123	5.990000	0.52315	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8749:0.1251:0.0	17.254	0.86934	982	0.03397	.;.;.;.;.;.	.	.	.	.	.	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	0.02381	1833.98	33	chr10	59247700	.	C	T	1833.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.450e+00;DP=851;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.92;ReadPosRankSum=1.61;SOR=0.704	GT:AD:DP:GQ:PL	0/1:86,82:168:99:1848,0,2178	20	0	1	0
chr10	72067625	72067625	C	T	exonic	SPOCK2	.	nonsynonymous SNV	SPOCK2:NM_001244950:exon7:c.G697A:p.G233S	.	.	421	1098	1	0	2	3	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.01	B	0.004	B	0.307	N	1.000	N	0.665	N	0.77	T	-1.053	T	0.072	T	0.026	0.012	4.077	-1.14	-0.384	0.538	6.085	0.020	0.0111352852141	0.0002	0.000599042	0.0003	0.0010	0.0003	0.0015	0	7.544e-05	0.0022	6.067e-05	0.0002458	38	154602	rs142091068	0.0001	0.0001	0.0001	0.0001	0.0017	0.0001	9.974e-05	0.0014	0.0012	0.0011	0.0002	0	0.0017	0	0.0002	3.867e-05	0.0002	8.117e-05	0.0004	0.0004	0.0005	0.0004	0.0017	0.0003	0.0003	0.0009	0.0007	0.0010	0	0.0010	0	0.0017	0	0	2.941e-05	0	0	0.844	0.02782	T	0.857	0.03467	T	0.01	0.15535	B	0.004	0.10090	B	0.307163	0.03991	N	1.374110	1	0.08975	N	0.29	0.10111	N	0.77	0.49642	T	1.0	0.01408	N	0.051	0.02272	-1.0530	0.13574	T	0.072	0.29130	T	10	0.0065487027	0.00148	T	0.011135	0.28436	T	0.020	0.03691	.	.	0.151262610727	0.14761	0.28757291108624183	0.28670	0.279534579081	0.30444	0.307676106691	0.11556	T	0.054194	0.29655	T	-0.673341	0.00052	T	-0.746768	0.03613	T	0.0018391418187515	0.00019	T	0.133787	0.01113	T	0.02409463	0.01207	0.039948076	0.04207	0.02409463	0.01207	0.039948076	0.04206	-1.285	0.01377	T	.	.	0.053	0.00368	B	.;.;.	.;.;.	0.365707	0.07381	4.005	0.30964145654789332	0.01721	0.09739	0.15427	N	AEFDGBI	0.044745	0.07236	N	-1.16953755804671	0.05465	0.2492448	-1.11962096023483	0.07326	0.3559011	0.999625430800312	0.41093	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.82	-1.14	0.09241	0.568000	0.23326	0.928000	0.22757	-0.111000	0.15049	0.651000	0.28180	0.998000	0.33993	0.016000	0.10718	0.0:0.2506:0.2213:0.5281	6.085	0.19188	851	0.35303	SPARC/Testican, calcium-binding domain;SPARC/Testican, calcium-binding domain;SPARC/Testican, calcium-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	601.98	33	chr10	72067625	.	C	T	601.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=743;ExcessHet=0.0000;FS=3.757;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=0.608;SOR=0.588	GT:AD:DP:GQ:PL	0/1:30,26:56:99:616,0,673	20	0	1	0
chr10	75022094	75022105	GAGGAGGAAGAA	-	exonic	KAT6B	.	nonframeshift deletion	KAT6B:NM_001370135:exon8:c.892_903del:p.E305_E308del	Genitopatellar syndrome, Autosomal dominant;SBBYSS syndrome	.	2	1506	12	2	0	16	0.00528402	.	.	253845	Intellectual_disability|not_provided|not_specified|Genitopatellar_syndrome	Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011640,MedGen:C1853566,OMIM:606170,Orphanet:85201	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0143	.	0.0070	0.0020	0.0032	0.0134	0.0044	0.0085	0.0034	0.0044	0.00073	19	26028	rs201769534	0.0092	0.0093	0.0092	0.0092	0.0108	0.0091	0.0090	0.0102	0.0102	0.0019	0.0048	0.0054	0.0108	0.0052	0.0038	0.0104	0.0082	0.0035	0.0071	0.0071	0.0074	0.0067	0.0111	0.0067	0.0066	0.0104	0.0102	0.0022	0	0.0057	0.0049	0.0093	0.0048	0.0068	0.0111	0.0028	0.0035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	827.94	33	chr10	75022093	.	GGAGGAGGAAGAA	G	827.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.527;DP=767;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.27;ReadPosRankSum=0.643;SOR=0.561	GT:AD:DP:GQ:PL	0/1:35,23:58:99:842,0,1374	20	0	1	0
chr10	84234132	84234132	C	A	exonic	LRIT1	.	nonsynonymous SNV	LRIT1:NM_015613:exon3:c.G836T:p.G279V,	.	.	421	1087	14	0	0	14	0.00639854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	4.17	H	-1.32	T	0.875	D	0.812	D	0.882	3.478	17.80	5.91	2.793	7.487	19.07	0.783	.	0.0005	0.00199681	0.0010	0	0.0003	0.0001	0	0.0005	0	0.0066	0.0008667	134	154602	rs373737385	0.0006	0.0006	0.0004	0.0008	0.0053	0.0006	0.0006	0.0049	0.0048	9.016e-05	0.0003	0.0011	0	0	0.0027	0.0003	0.0008	0.0053	0.0005	0.0005	0.0005	0.0006	0.0072	0.0004	0.0004	0.0054	0.0047	0.0002	0	0.0005	0.0012	0	0	0	0.0004	0	0.0072	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.25	0.89816	M	-1.32	0.79761	T	-6.97	0.93544	D	0.946	0.95374	0.875	0.95347	D	0.812	0.93647	D	10	0.07510394	0.11564	T	.	.	.	0.783	0.92787	.	.	0.73760156344	0.73525	0.952733017401933	0.95257	0.498056907143	0.48287	0.678406000137	0.64040	T	0.475524	0.80653	T	0.0540273	0.58859	T	0.305371	0.88445	D	0.192734791936266	0.20004	T	0.872413	0.57909	D	0.8944415	0.90892	0.6313152	0.78491	0.8944415	0.90893	0.6313152	0.78492	-10.637	0.77630	D	.	.	0.901	0.82795	P	.	.	4.453791	0.69252	25.3	0.99710016478489993	0.81283	0.98815	0.87215	D	AEFDBI	0.903024	0.85162	D	0.867179570836743	0.90064	10.237	0.704065771692812	0.82686	7.829259	0.999999405348896	0.74766	0.497415	0.19182	0	0.563428	0.19063	0	0.48864	0.07692	0	0.542086	0.14980	0	.	.	5.91	5.91	0.95240	7.568000	0.81546	7.701000	0.66289	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.055000	0.15596	0.0:1.0:0.0:0.0	19.07	0.93113	927	0.17636	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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3601.11	42	chr10	84234132	.	C	A	3601.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.515e+00;DP=1639;ExcessHet=0.1072;FS=0.495;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.79;ReadPosRankSum=-1.132e+00;SOR=0.743	GT:AD:DP:GQ:PL	0/1:54,70:124:99:1756,0,1443	19	0	2	0
chr10	94334258	94334258	C	G	exonic	NOC3L	.	nonsynonymous SNV	NOC3L:NM_022451:exon21:c.G2322C:p.Q774H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.162	B	0.382	B	0.011	N	0.996	N	1.795	L	2.71	T	-0.965	T	0.042	T	0.127	0.841	8.397	-9.91	-2.775	-1.765	15.468	0.063	0.00567650125638	.	.	4.151e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs769879277	2.331e-05	2.531e-05	1.364e-05	3.308e-05	0.0004	1.678e-05	1.481e-05	0.0003	0.0002	0	2.252e-05	0	2.522e-05	0	0	0	0	0.0004	1.315e-05	1.314e-05	0	2.691e-05	0.0004	2.18e-06	8.2e-07	7.299e-05	3.032e-05	0	0	0	0	0	0	0	0	0	0.0004	0.044	0.41096	D	0.113	0.36901	T	0.162	0.28404	B	0.382	0.43908	B	0.010706	0.29815	N	0.302665	0.996346	0.43151	D	2.075	0.57047	M	2.71	0.12055	T	-1.44	0.35399	N	0.112	0.09914	-0.9645	0.38310	T	0.042	0.17994	T	10	0.031232357	0.01256	T	0.005677	0.14712	T	0.063	0.18251	0.213	0.13210	0.183819452728	0.17975	0.2785668335706863	0.27769	0.234649144047	0.26005	0.239020898938	0.02703	T	0.007154	0.06566	T	-0.512162	0.00488	T	-0.667485	0.07770	T	0.079589043076283	0.09934	T	0.515049	0.16594	T	0.047765307	0.08218	0.073436834	0.15957	0.047765307	0.08217	0.073436834	0.15956	-4.83	0.34939	T	.	.	0.088	0.11893	B	.	.	-1.365106	0.00386	0.007	0.81745089667287985	0.13838	0.04053	0.09499	N	AEFGBI	0.059448	0.11230	N	-1.7783136558879	0.00600	0.02587071	-1.97058923462404	0.00353	0.01558293	0.999861866179209	0.44398	0.732398	0.92422	0	0.743671	0.97443	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	4.96	-9.91	0.00379	-1.834000	0.01787	-4.183000	0.02295	-2.556000	0.00246	0.017000	0.19353	0.000000	0.08366	0.057000	0.15750	0.0:0.6722:0.1013:0.2265	15.468	0.75149	406	0.82375	.	.	.	.	.	.	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	0.02381	381.98	33	chr10	94334258	.	C	G	381.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.729e+00;DP=730;ExcessHet=0.0000;FS=4.519;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.49;ReadPosRankSum=1.35;SOR=0.240	GT:AD:DP:GQ:PL	0/1:26,19:45:99:396,0,682	20	0	1	0
chr10	99661522	99661522	G	A	exonic	ENTPD7	.	nonsynonymous SNV	ENTPD7:NM_001349963:exon3:c.G85A:p.V29M	.	.	429	1035	57	1	0	59	0.0277125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.911	P	0.491	P	0.009	N	0.996	N	0.55	N	2.43	T	-1.068	T	0.033	T	0.502	3.266	16.96	4.77	1.377	1.251	11.196	0.062	.	0.0012	0.00199681	0.0034	9.612e-05	0.0036	0	0.0003	0.0025	0.0066	0.0113	0.0029495	456	154602	rs35229854	0.0020	0.0020	0.0016	0.0024	0.0206	0.0019	0.0019	0.0176	0.0165	0.0001	0.0030	0.0064	0	0.0003	0.0206	0.0011	0.0029	0.0118	0.0015	0.0015	0.0014	0.0016	0.0112	0.0014	0.0013	0.0088	0.0080	0.0001	0	0.0021	0.0078	0	9.454e-05	0.0034	0.0016	0.0029	0.0112	0.037	0.43085	D	0.174	0.30045	T	0.911	0.50336	P	0.491	0.47360	P	0.008670	0.30726	N	0.274711	0.996233	0.23076	N	1.5	0.37844	L	2.43	0.15261	T	-0.45	0.14782	N	0.528	0.55713	-1.0678	0.09903	T	0.033	0.14247	T	10	0.009385347	0.00212	T	.	.	.	0.062	0.17934	.	.	0.139678290688	0.13603	0.30423648248339563	0.30336	0.300151110896	0.32375	0.574234604836	0.49276	T	0.012203	0.10769	T	-0.465401	0.00909	T	-0.430905	0.29832	T	0.0340382042267121	0.02645	T	0.748625	0.36937	T	0.037930403	0.04957	0.052645225	0.08714	0.037930403	0.04957	0.052645225	0.08714	-4.611	0.32310	T	.	.	0.116	0.23360	B	.	.	2.997068	0.40031	21.1	0.99836436235638792	0.91714	0.39375	0.26199	N	ALL	0.077766	0.15674	N	0.0143417437295452	0.42508	2.562465	0.0522063431327149	0.42178	2.546715	1.0	0.98316	0.730579	0.87903	0	0.633656	0.55848	0	0.49644	0.08281	0	0.648885	0.59868	0	.	.	5.68	4.77	0.60425	1.296000	0.32994	4.278000	0.42871	-0.153000	0.12021	0.995000	0.38783	1.000000	0.68203	0.950000	0.49671	0.0:0.1384:0.7181:0.1435	11.196	0.47943	838	0.37812	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2567.11	35	chr10	99661522	.	G	A	2567.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.10;DP=870;ExcessHet=0.1072;FS=3.059;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=2.02;SOR=0.902	GT:AD:DP:GQ:PL	0/1:57,52:109:99:1338,0,1320	19	0	2	0
chr10	99804260	99804260	G	A	exonic	ABCC2	.	nonsynonymous SNV	ABCC2:NM_000392:exon10:c.G1451A:p.S484N,	Dubin-Johnson syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.003	B	0.013	B	0.047	N	1.000	D	0.83	L	-2.64	D	-0.819	T	0.425	T	0.028	0.609	7.280	-3.39	-0.411	1.787	5.007	0.204	0.0466277013545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	0.10278	T	0.49	0.11551	T	0.003	0.11197	B	0.013	0.16460	B	0.047197	0.23368	N	0.502127	0.821571	0.28875	N	-0.06	0.04898	N	-2.64	0.90147	D	-1.4	0.34596	N	0.048	0.01999	-0.8185	0.54028	T	0.425	0.76863	T	10	0.16213697	0.30395	T	0.046628	0.62545	D	0.204	0.49076	0.585	0.71245	0.721272653275	0.71880	0.6532732661007561	0.65263	0.036459508934	0.03857	0.421774089336	0.28081	T	0.223694	0.58791	T	-0.184031	0.23138	T	-0.502124	0.22128	T	0.33729562163353	0.26516	T	0.356464	0.08103	T	0.05336251	0.10088	0.08191441	0.18655	0.05336251	0.10087	0.08191441	0.18655	-5.124	0.38159	T	0.22363893039914107	0.30191	0.14	0.30686	B	.;.	.;.	0.776464	0.11463	8.069	0.76786623329663439	0.11609	0.61396	0.31472	D	AEFBCI	0.144547	0.26753	N	-1.02551231682111	0.08077	0.3774529	-1.00796679567604	0.09609	0.4790658	0.999894358988219	0.45129	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.41	-3.39	0.04563	1.460000	0.34855	1.800000	0.28874	-0.118000	0.14412	0.987000	0.36337	0.666000	0.26041	0.283000	0.24091	0.1931:0.219:0.4859:0.1019	5.007	0.13638	794	0.45591	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	883.98	37	chr10	99804260	.	G	A	883.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.625;DP=826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.19;ReadPosRankSum=-7.500e-02;SOR=0.602	GT:AD:DP:GQ:PL	0/1:33,34:67:99:898,0,830	20	0	1	0
chr10	102066172	102066172	T	G	exonic	HPS6	.	nonsynonymous SNV	HPS6:NM_024747:exon1:c.T698G:p.L233R,	Hermansky-Pudlak syndrome 6	.	0	1445	75	2	0	79	0.0266083	.	.	207733	Hermansky-Pudlak_syndrome_6|not_specified|not_provided	MONDO:MONDO:0013558,MedGen:C3888007,OMIM:614075,Orphanet:231512,Orphanet:79430|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.81	T	0.0	B	0.001	B	0.296	N	1.000	N	1.265	L	-1.05	T	-0.993	T	0.163	T	0.248	-1.357	0.028	2.39	0.870	1.287	1.041	0.080	.	0.0068	0.00359425	0.0075	0.0016	0.0042	0	0.0003	0.0093	0.0124	0.0127	0.0072121	1115	154602	rs36078476	0.0083	0.0083	0.0082	0.0084	0.0182	0.0082	0.0082	0.0154	0.0143	0.0014	0.0050	0.0306	2.519e-05	0.0003	0.0182	0.0084	0.0097	0.0119	0.0062	0.0062	0.0065	0.0059	0.0147	0.0059	0.0057	0.0120	0.0109	0.0016	0.0055	0.0093	0.0259	0.0002	0.0002	0.0068	0.0080	0.0085	0.0147	0.799	0.03125	T	0.309	0.19782	T	0.0	0.02946	B	0.001	0.04355	B	0.295985	0.14683	N	0.686580	1	0.08975	N	2.3	0.65703	M	-1.05	0.76690	T	1.01	0.01387	N	0.259	0.29313	-0.9927	0.31906	T	0.163	0.49980	T	10	0.0056492984	0.00125	T	.	.	.	0.080	0.23350	.	.	0.566228512615	0.56287	0.2699281259415084	0.26905	0.699373421703	0.61030	0.295210570097	0.09689	T	0.119345	0.44081	T	-0.413859	0.01874	T	-0.356868	0.38415	T	0.00708485113408285	0.00081	T	0.511749	0.16382	T	0.059877582	0.12222	0.08159723	0.18555	0.059877582	0.12221	0.08159723	0.18554	-4.568	0.31767	T	0.055239806055071006	0.01217	0.118	0.23952	B	.	.	1.971509	0.25044	16.62	0.72400093041933844	0.09960	0.02923	0.07733	N	AEFDGBHCI	0.090656	0.18369	N	-0.900017182519168	0.10842	0.5201311	-0.815442134888358	0.14121	0.7362293	0.99999999969378	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.52208	0.10781	0	0.603991	0.37454	0	.	.	4.9	2.39	0.28492	1.501000	0.35301	4.406000	0.43264	-0.127000	0.13314	0.084000	0.22438	1.000000	0.68203	0.041000	0.14368	0.2679:0.0946:0.2798:0.3577	1.041	0.01462	527	0.73864	.	.	.	.	.	rs36078476	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	0.04762	2632.11	35	chr10	102066172	.	T	G	2632.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.517e+00;DP=923;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.01;ReadPosRankSum=0.393;SOR=0.712	GT:AD:DP:GQ:PL	0/1:65,60:125:99:1358,0,1832	19	0	2	0
chr10	119898610	119898610	C	T	exonic	SEC23IP	.	nonsynonymous SNV	SEC23IP:NM_007190:exon2:c.C347T:p.P116L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.597	P	0.17	B	0.007	N	1.000	D	1.935	M	-4.22	D	0.580	D	0.828	D	0.208	0.783	8.131	3.38	0.608	2.677	9.979	0.371	0.360723041768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.788e-06	4.788e-06	6.806e-06	2.75e-06	6.295e-06	1.99e-06	1.28e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.295e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.007	0.76473	D	0.597	0.39250	P	0.17	0.35299	B	0.007147	0.31570	N	0.384533	0.999855	0.81001	D	2.005	0.54552	M	-4.22	0.96982	D	-1.29	0.32387	N	0.334	0.37923	0.580	0.91634	D	0.828	0.94235	D	10	0.2735638	0.44905	T	0.360723	0.92504	D	0.371	0.69016	0.333	0.32005	0.912962115397	0.91208	0.27030273939201377	0.26943	0.221362004363	0.24674	0.312347084284	0.12261	T	0.40053	0.75808	T	0.101942	0.64502	D	-0.0913442	0.64060	T	0.452049851417542	0.30872	T	0.787921	0.42712	T	0.0801805	0.18358	0.058510453	0.10825	0.0801805	0.18357	0.058510453	0.10825	-6.554	0.50701	T	.	.	0.079	0.15475	B	.;.	.;.	2.249612	0.28733	17.89	0.91908927066633339	0.21230	0.90217	0.51220	D	AEFDGBI	0.229536	0.35304	N	-0.294738313430947	0.29350	1.626879	-0.322126076228474	0.27385	1.519204	0.99997629237225	0.50053	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.23	3.38	0.37806	4.359000	0.59223	2.426000	0.32709	-0.174000	0.10959	0.960000	0.33603	0.946000	0.28899	0.043000	0.14563	0.139:0.7893:0.0:0.0716	9.979	0.40976	631	0.64944	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2468.98	33	chr10	119898610	.	C	T	2468.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.57;DP=871;ExcessHet=0.0000;FS=1.154;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.64;ReadPosRankSum=-1.940e-01;SOR=0.767	GT:AD:DP:GQ:PL	0/1:93,88:181:99:2483,0,2532	20	0	1	0
chr10	122429747	122429747	C	T	exonic	PLEKHA1	.	stopgain	PLEKHA1:NM_001377252:exon10:c.C880T:p.R294X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.002	N	1.000	D	.	.	.	.	.	.	.	.	.	6.366	37	5.71	2.861	4.609	15.680	.	.	.	0.000199681	8.238e-06	0	0	0.0001	0	0	0	0	1.29e-05	2	154602	rs200164610	6.84e-06	6.84e-06	5.445e-06	8.25e-06	2.519e-05	3.46e-06	2.52e-06	3.09e-06	2.24e-06	0	2.236e-05	0	2.519e-05	0	0	7.194e-06	0	0	6.568e-06	6.562e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.002449	0.36537	N	0.280670	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.747	0.89689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.549807	0.95797	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;Recessive	High;.;High	9.260641	0.98689	40	0.99744377331733414	0.83778	0.98558	0.84076	D	AEFDGBI	0.073148	0.14621	N	0.920604061076864	0.92732	11.59563	0.814874069492518	0.90807	10.57835	0.999999988484297	0.74766	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.71	5.71	0.89031	4.842000	0.62530	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8637:0.1363:0.0	15.680	0.77113	944	0.12746	.;.;.	.	.	.	.	.	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	0.02381	2969.98	42	chr10	122429747	.	C	T	2969.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.88;DP=1058;ExcessHet=0.0000;FS=1.508;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.74;ReadPosRankSum=-1.328e+00;SOR=0.595	GT:AD:DP:GQ:PL	0/1:132,121:253:99:2984,0,3080	20	0	1	0
chr10	122631872	122631872	C	T	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_004406:exon34:c.C4093T:p.P1365S	.	.	411	1106	5	0	0	5	0.0022553	.	.	737389	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.45	T	0.097	B	0.099	B	.	.	1.000	N	0.78	N	1.89	T	-0.977	T	0.032	T	0.058	-0.149	3.270	-5.86	-1.196	-1.854	4.085	0.006	0.00133183655001	0.0008	0.000998403	0.0012	0.0002	0.0007	0	0	0.0019	0.0022	0.0004	0.0011061	171	154602	rs189862352	0.0008	0.0008	0.0007	0.0008	0.0177	0.0007	0.0007	0.0149	0.0139	0.0003	0.0012	0.0083	0	9.363e-05	0.0177	0.0005	0.0016	0.0006	0.0006	0.0006	0.0006	0.0007	0.0009	0.0005	0.0005	0.0005	0.0004	0.0002	0	0.0009	0.0081	0	0	0.0068	0.0006	0.0009	0.0008	0.336	0.28520	T	0.253	0.23501	T	0.097	0.25541	B	0.099	0.30579	B	.	.	.	.	1	0.08975	N	0.72	0.18721	N	1.89	0.24656	T	-1.67	0.39887	N	0.204	0.22614	-0.9772	0.35638	T	0.032	0.13592	T	9	0.0036647618	0.00067	T	0.001332	0.01885	T	0.006	0.00375	.	.	0.143124449307	0.13826	0.3593714767669015	0.35851	0.151937623519	0.17149	0.22824755311	0.01841	T	0.029273	0.21013	T	-0.658882	0.00064	T	-0.775562	0.02590	T	0.00140085972303628	0.00014	T	0.315568	0.06252	T	0.020081563	0.00554	0.040454477	0.04376	0.020081563	0.00554	0.040454477	0.04375	-3.937	0.22858	T	.	.	0.073	0.06710	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.731160	0.01250	0.064	0.32069138688701071	0.01839	0.00269	0.01464	N	AEFBI	0.041563	0.06335	N	-1.72593763727459	0.00753	0.03254914	-1.83717699914581	0.00647	0.02877756	0.999717407815277	0.42101	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.07	-5.86	0.02114	-1.375000	0.02670	.	.	-1.105000	0.01501	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5678:0.1788:0.0:0.2533	4.085	0.09417	571	0.70397	.;.;.;.;.;.;.	.	.	.	.	.	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	0.02381	814.98	35	chr10	122631872	.	C	T	814.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.60;DP=798;ExcessHet=0.0000;FS=0.781;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.69;ReadPosRankSum=-1.009e+00;SOR=0.764	GT:AD:DP:GQ:PL	0/1:72,34:106:99:829,0,1786	20	0	1	0
chr10	122837497	122837497	T	C	exonic	CUZD1	.	nonsynonymous SNV	CUZD1:NM_022034:exon4:c.A506G:p.N169S,	.	.	432	1066	22	2	0	26	0.0120482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.889	P	0.526	P	0.000	D	1.000	D	2.39	M	1.14	T	-0.844	T	0.141	T	0.173	3.243	16.87	4.75	1.773	1.192	13.921	0.131	0.0240560008823	0.0009	0.000798722	0.0018	0.0002	0.0011	0	0.0045	0.0018	0.0080	0.0029	0.0016171	250	154602	rs141623717	0.0015	0.0015	0.0014	0.0016	0.0150	0.0014	0.0014	0.0124	0.0115	0.0003	0.0014	0.0074	0	0.0059	0.0150	0.0010	0.0027	0.0032	0.0013	0.0013	0.0010	0.0016	0.0025	0.0012	0.0011	0.0014	0.0011	0.0002	0	0.0012	0.0063	0	0.0060	0.0068	0.0010	0.0038	0.0025	0.449	0.09022	T	0.099	0.38891	T	0.889	0.48869	P	0.526	0.48415	P	0.000000	0.84330	D	0.000000	0.963194	0.81001	D	1.325	0.33218	L	1.14	0.38397	T	-1.4	0.34596	N	0.362	0.40364	-0.8435	0.52413	T	0.141	0.46016	T	10	0.012897134	0.00275	T	0.024056	0.47042	T	0.131	0.35738	.	.	0.400899426204	0.39700	0.564751872261647	0.56402	0.12830325821	0.14463	.	.	.	0.110994	0.42613	T	-0.486553	0.00679	T	-0.475667	0.24908	T	0.0286306033362922	0.01782	T	0.822518	0.48242	T	0.2126314	0.43621	0.2022732	0.44247	0.2126314	0.43620	0.2022732	0.44246	-6.695	0.51773	T	.	.	0.124	0.25978	B	.;.	.;.	3.008575	0.40229	21.1	0.99792853888244271	0.87839	0.91355	0.53366	D	AEFBI	0.331883	0.43147	N	0.328967419111799	0.57639	3.93217	0.323003786255043	0.56894	3.853559	0.998623142312072	0.37330	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.491896	0.07777	0	.	.	4.75	4.75	0.59954	1.560000	0.35939	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	13.921	0.63438	942	0.12992	CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	956.98	36	chr10	122837497	.	T	C	956.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.760e-01;DP=797;ExcessHet=0.0000;FS=0.795;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.52;ReadPosRankSum=2.33;SOR=0.858	GT:AD:DP:GQ:PL	0/1:48,43:91:99:971,0,1152	20	0	1	0
chr10	122983003	122983003	G	C	exonic	PSTK	.	nonsynonymous SNV	PSTK:NM_001363531:exon2:c.G487C:p.V163L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.004	B	0.022	B	0.000	D	0.958	D	1.825	L	2.91	T	-1.066	T	0.029	T	0.723	2.839	15.46	5.44	2.534	6.005	16.179	0.217	0.00704594610802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.48642	T	0.192	0.33554	T	0.004	0.12183	B	0.022	0.19653	B	0.000010	0.62929	D	0.064498	0.958085	0.38057	D	1.76	0.45711	L	2.91	0.10008	T	-0.84	0.22944	N	0.669	0.67736	-1.0661	0.10293	T	0.029	0.12585	T	10	0.50841606	0.61954	D	0.007046	0.18676	T	0.217	0.51112	0.724	0.85850	0.349647731962	0.34572	0.6258530157450021	0.62518	0.263583704205	0.28913	0.645784556866	0.59386	T	0.019375	0.15446	T	-0.000810022	0.51544	T	-0.23894	0.50901	T	0.890971660614014	0.54186	D	0.877812	0.59215	D	0.22272539	0.44877	0.21593522	0.46201	0.22272539	0.44877	0.21593522	0.46200	-10.869	0.78934	D	.	.	0.647	0.71035	P	.;.;.	.;.;.	3.675766	0.52298	23.2	0.99376505445614849	0.61671	0.97325	0.74040	D	AEFBI	0.695338	0.65404	D	-0.0452252440071354	0.39816	2.354205	0.149695039779814	0.47125	2.947556	0.999999870920904	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.097000	0.71099	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.179	0.81701	926	0.17793	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3947	1430.69	126	chr10	122983003	.	G	C	1430.69	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-1.692e+00;DP=2620;ExcessHet=17.4423;FS=177.818;InbreedingCoeff=-0.5926;MLEAC=15;MLEAF=0.395;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=0.541;SOR=13.321	GT:AD:DP:GQ:PL	0/1:72,36:110:99:225,0,1094	4	0	15	2
chr10	124021238	124021238	G	-	exonic	CHST15	.	frameshift deletion	CHST15:NM_001270765:exon6:c.1365delC:p.R456Vfs*28	.	.	593	121	299	273	236	1081	0.777369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	94292.76	58	chr10	124021236	.	CGG	C,CG,CGGGG	94292.76	.	AC=4,33,1;AF=0.095,0.786,0.024;AN=42;BaseQRankSum=-1.600e-02;DP=3402;ExcessHet=0.6776;FS=23.539;InbreedingCoeff=-0.1053;MLEAC=4,33,1;MLEAF=0.095,0.786,0.024;MQ=59.99;MQRankSum=0.00;QD=27.55;ReadPosRankSum=-1.170e-01;SOR=0.000	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,10,134,0:144:99:.:.:5773,5014,4778,430,148,0,5563,4935,422,5418	0	0	1	0
chr10	124021238	124021238	-	GG	exonic	CHST15	.	frameshift insertion	CHST15:NM_001270765:exon6:c.1364_1365insCC:p.R456Pfs*29	.	.	593	121	299	273	236	1081	0.777369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	94292.76	58	chr10	124021236	.	CGG	C,CG,CGGGG	94292.76	.	AC=4,33,1;AF=0.095,0.786,0.024;AN=42;BaseQRankSum=-1.600e-02;DP=3402;ExcessHet=0.6776;FS=23.539;InbreedingCoeff=-0.1053;MLEAC=4,33,1;MLEAF=0.095,0.786,0.024;MQ=59.99;MQRankSum=0.00;QD=27.55;ReadPosRankSum=-1.170e-01;SOR=0.000	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,10,134,0:144:99:.:.:5773,5014,4778,430,148,0,5563,4935,422,5418	0	0	1	0
chr10	124989543	124989543	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.A1517G:p.N506S	.	.	430	785	300	7	0	314	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.42	B	0.406	B	0.041	N	0.547	N	-0.345	N	-1.58	D	-0.266	T	0.330	T	0.333	1.581	11.24	3.98	0.967	1.940	11.061	0.362	0.0412206901109	.	.	.	.	.	.	.	.	.	.	0.0011526	30	26028	rs75839774	4.107e-06	4.104e-06	5.449e-06	2.752e-06	4.497e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.61437	D	0.553	0.32461	T	0.017	0.35330	B	0.044	0.44683	B	0.040786	0.24019	N	0.433304	0.546531	0.31369	N	1.1	0.28011	L	-1.58	0.82806	D	-0.98	0.25986	N	0.097	0.39153	-0.2662	0.75916	T	0.330	0.69766	T	10	0.12751639	0.24250	T	0.041221	0.59806	D	0.362	0.68230	0.075	0.00517	0.760080849401	0.75790	0.26369227103169535	0.26282	1.68067603589	0.89969	0.448414385319	0.31727	T	0.157679	0.50038	T	0.0363132	0.56560	T	-0.185615	0.55999	T	0.436808287713247	0.30312	T	0.90311	0.67973	D	0.08655811	0.20123	0.08484771	0.19547	0.08655811	0.20122	0.08484771	0.19547	-2.304	0.04577	T	.	.	0.070	0.03588	B	.;.;.;.;.;.	.;.;.;.;.;.	2.477890	0.31950	18.89	0.9913628706847909	0.53410	0.86806	0.46168	D	AEFDGBCI	0.540087	0.55679	D	-0.275999058280499	0.30077	1.67381	-0.0903501737703044	0.35788	2.074695	0.999999280419097	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	3.98	0.45383	2.629000	0.46152	0.448000	0.18493	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.0:0.0728:0.0:0.9272	11.061	0.47165	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4762	25745.43	127	chr10	124989543	.	T	C	25745.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.935e+00;DP=2756;ExcessHet=43.6797;FS=18.332;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=49.30;MQRankSum=-8.794e+00;QD=9.77;ReadPosRankSum=0.699;SOR=0.186	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,32:118:99:0|1:124989533_G_A:921,0,3460:124989533	1	0	20	0
chr10	124989565	124989565	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon9:c.1495delC:p.Q499Sfs*36	.	.	440	850	230	2	0	234	0.120993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs146097043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	13474.39	125	chr10	124989564	.	TG	T	13474.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-3.297e+00;DP=2881;ExcessHet=43.6797;FS=16.961;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=51.38;MQRankSum=-8.258e+00;QD=5.07;ReadPosRankSum=-1.778e+00;SOR=0.329	GT:AD:DP:GQ:PL	0/1:95,20:115:99:265,0,3207	1	0	20	0
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H	.	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	2.48	M	-1.64	D	0.598	D	0.722	D	0.666	4.396	23.3	5.36	2.030	7.698	15.357	0.855	0.287995004976	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913075834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.53900	D	0.014	0.69154	D	1.0	0.90584	D	0.995	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.03	0.86425	M	-1.64	0.82533	D	-4.7	0.80510	D	0.955	0.96416	0.598	0.91868	D	0.722	0.90485	D	10	0.93609107	0.92939	D	0.287995	0.90464	D	0.855	0.95544	0.749	0.87988	0.908261012674	0.90733	0.9221523146368497	0.92192	2.0305426451	0.94091	0.826209723949	0.85982	D	0.743281	0.92907	D	0.230793	0.76796	D	0.0937411	0.76494	D	0.996190285808554	0.88852	D	0.970303	0.89317	D	0.91641486	0.92901	0.8315015	0.90282	0.91641486	0.92902	0.8315015	0.90283	-11.706	0.83405	D	.	.	0.818	0.83534	P	.;.;.;.;.;.	.;.;.;.;.;.	4.739043	0.76411	26.5	0.99694374199735813	0.80180	0.94484	0.61314	D	AEFDGBCI	0.936668	0.93334	D	0.798915340390827	0.86037	8.759083	0.761626191030682	0.87022	9.081087	0.999999999999979	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	7.674000	0.83146	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.357	0.74148	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7883.4	152	chr10	124994489	.	T	G	7883.4	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.91;DP=3256;ExcessHet=54.0936;FS=22.490;InbreedingCoeff=-0.9843;MLEAC=21;MLEAF=0.500;MQ=58.49;MQRankSum=-7.468e+00;QD=2.53;ReadPosRankSum=-3.768e+00;SOR=2.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,36:172:99:0|1:124994489_T_G:1102,0,5532:124994489	0	0	21	0
chr10	124994501	124994501	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C952T:p.H318Y	.	.	426	821	272	3	0	278	0.144792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.868	P	0.701	P	0.000	D	1.000	D	0.5	N	-1.36	T	-0.129	T	0.435	T	0.897	4.262	22.2	5.21	2.428	9.476	18.767	0.771	0.0948171006631	.	.	.	.	.	.	.	.	.	.	.	.	.	rs978705792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.42487	T	0.297	0.31125	T	0.868	0.47740	P	0.617	0.54186	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.11	0.08516	N	-1.36	0.80125	T	-5.44	0.85541	D	0.915	0.92084	-0.1289	0.79427	T	0.435	0.77536	T	10	0.7908057	0.78643	D	0.094817	0.76319	D	0.771	0.92294	0.486	0.56939	0.919217431084	0.91840	0.9252807218489828	0.92505	1.25117579951	0.81802	0.887714266777	0.94973	D	0.545829	0.84532	D	0.352326	0.86659	D	0.268315	0.86483	D	0.94890558719635	0.62996	D	0.972303	0.89961	D	0.826035	0.85629	0.7361207	0.84404	0.826035	0.85631	0.7361207	0.84405	-9.649	0.71784	D	.	.	0.781	0.76420	P	.;.;.;.;.;.	.;.;.;.;.;.	4.665783	0.74522	26.2	0.99760421591352766	0.85011	0.95027	0.63172	D	AEFDGBCI	0.931287	0.91988	D	0.465501566800638	0.65087	4.778689	0.565123419115292	0.72454	5.812716	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.771000	0.84203	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	11255.74	156	chr10	124994501	.	G	A	11255.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.168e+00;DP=3468;ExcessHet=54.0936;FS=34.605;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.01;MQRankSum=-6.676e+00;QD=3.46;ReadPosRankSum=-2.867e+00;SOR=3.343	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,37:173:99:0|1:124994489_T_G:1144,0,5587:124994489	0	0	21	0
chr10	124994505	124994505	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T948A:p.H316Q	.	.	423	816	278	5	0	288	0.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.682	P	0.383	B	0.000	D	1.000	D	-0.56	N	-1.26	T	-0.801	T	0.184	T	0.76	2.740	15.12	1.37	0.279	1.859	8.31	0.476	0.0731369313184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937366751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.46513	D	0.259	0.44702	T	0.682	0.41464	P	0.219	0.43945	B	0.000000	0.84330	D	0.000000	0.999904	0.50806	D	-0.715	0.01801	N	-1.26	0.79176	T	-6.79	0.93135	D	0.687	0.70000	-0.8006	0.55109	T	0.184	0.53255	T	10	0.5356107	0.63429	D	0.073137	0.71713	D	0.476	0.76816	0.447	0.50629	0.947376611969	0.94682	0.8013614072212495	0.80090	0.902566627065	0.70693	0.888023793697	0.95012	D	0.559992	0.85254	D	0.155552	0.69787	D	-0.0143363	0.69401	D	0.887895047664642	0.53844	D	0.743426	0.36288	T	0.90044665	0.91423	0.7164848	0.83265	0.90044665	0.91424	0.7164848	0.83266	-12.552	0.89160	D	.	.	0.886	0.85521	P	.;.;.;.;.;.	.;.;.;.;.;.	3.763339	0.54010	23.4	0.97895156658106663	0.36704	0.72838	0.35639	D	AEFDGBCI	0.464485	0.51296	N	-0.261912955812249	0.30631	1.70973	-0.146100228405978	0.33558	1.920874	0.999999244525417	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	1.37	0.21200	1.883000	0.39293	2.678000	0.33996	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.5559:0.0:0.4441:0.0	8.31	0.31226	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	11481.74	156	chr10	124994505	.	A	T	11481.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.11;DP=3557;ExcessHet=54.0936;FS=34.605;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=57.84;MQRankSum=-6.427e+00;QD=3.53;ReadPosRankSum=-2.195e+00;SOR=3.365	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,38:169:99:0|1:124994489_T_G:1191,0,5368:124994489	0	0	21	0
chr10	124994530	124994530	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C923T:p.S308F	.	.	421	688	403	10	0	423	0.235131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	2.82	M	-1.61	D	0.694	D	0.759	D	0.962	4.522	24.3	5.21	2.428	9.476	18.767	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	17751.74	151	chr10	124994530	.	G	A	17751.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.820e-01;DP=3935;ExcessHet=54.0936;FS=46.204;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=57.24;MQRankSum=-5.975e+00;QD=5.06;ReadPosRankSum=1.22;SOR=3.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,43:180:99:0|1:124994523_G_A:1355,0,5457:124994523	0	0	21	0
chr10	124994542	124994542	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G911A:p.S304N	.	.	418	797	293	14	0	321	0.167624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.979	D	0.000	D	1.000	D	3.655	H	-1.86	D	0.923	D	0.835	D	0.591	4.999	29.4	5.21	2.428	7.487	18.767	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	9863.05	143	chr10	124994542	.	C	T	9863.05	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-2.164e+00;DP=3993;ExcessHet=43.6797;FS=49.168;InbreedingCoeff=-0.9535;MLEAC=21;MLEAF=0.525;MQ=57.04;MQRankSum=-5.810e+00;QD=3.01;ReadPosRankSum=1.99;SOR=3.857	GT:AD:DP:GQ:PL	0/1:127,44:171:99:691,0,3574	0	0	20	1
chr10	124994563	124994563	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T890A:p.L297Q	.	.	408	769	327	18	0	363	0.190952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.835	M	-1.85	D	0.754	D	0.782	D	0.972	4.559	24.7	5.42	2.054	8.962	15.466	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	11569.05	148	chr10	124994563	.	A	T	11569.05	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-2.224e+00;DP=4131;ExcessHet=43.6797;FS=57.159;InbreedingCoeff=-0.9535;MLEAC=21;MLEAF=0.525;MQ=56.94;MQRankSum=-6.032e+00;QD=3.36;ReadPosRankSum=3.18;SOR=4.119	GT:AD:DP:GQ:PL	0/1:132,49:181:99:753,0,3683	0	0	20	1
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H	.	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.954	D	0.000	D	1.000	D	0.535	N	-1.71	D	0.130	D	0.526	D	0.874	4.527	24.4	4.51	1.255	3.829	13.270	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	27377.74	154	chr10	124994577	.	C	A	27377.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-4.280e+00;DP=4255;ExcessHet=54.0936;FS=61.004;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.96;MQRankSum=-6.569e+00;QD=7.23;ReadPosRankSum=2.73;SOR=4.019	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,51:190:99:0|1:124994577_C_A:1683,0,5612:124994577	0	0	21	0
chr10	125003368	125003368	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C387G:p.D129E	.	.	430	852	239	1	0	241	0.123907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.34	B	0.426	B	0.000	D	1.000	D	2.07	M	0.84	T	-0.808	T	0.168	T	0.718	2.749	15.15	-4.33	-0.867	-0.788	14.997	0.229	0.0278736828157	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.52492	D	0.035	0.76473	D	0.057	0.33445	B	0.084	0.45295	B	0.000001	0.84330	D	0.093937	0.998215	0.47795	D	1.255	0.31814	L	0.84	0.47477	T	-3.72	0.73151	D	0.731	0.74280	-0.8081	0.54665	T	0.168	0.50745	T	10	0.57244885	0.65394	D	0.027874	0.50634	D	0.229	0.52916	0.567	0.68901	0.742667268481	0.74035	0.9372575970872389	0.93705	0.839287628383	0.67962	0.822298943996	0.85381	D	0.532581	0.83851	D	-0.00859042	0.50463	T	-0.250116	0.49806	T	0.95814836025238	0.65193	D	0.816918	0.54045	T	0.61954224	0.73738	0.49464875	0.70773	0.61954224	0.73740	0.49464875	0.70773	-13.991	0.95421	D	.	.	0.998	0.97084	P	.;.;.;.;.;.	.;.;.;.;.;.	1.288935	0.16893	12.83	0.98899659867088185	0.48163	0.32479	0.24596	N	AEFDGBHCI	0.425946	0.49050	N	-0.575959099119209	0.19677	1.031687	-0.660887068078052	0.17942	0.9563054	0.999999886987385	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	-4.33	0.03423	-0.760000	0.04861	-7.833000	0.01078	0.662000	0.56354	0.017000	0.19353	0.000000	0.08366	0.996000	0.76049	0.7124:0.0:0.2876:0.0	14.997	0.71096	923	0.18507	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.125	355.62	71	chr10	125003368	.	G	C	355.62	.	AC=4;AF=0.125;AN=32;BaseQRankSum=0.397;DP=1891;ExcessHet=0.6776;FS=7.526;InbreedingCoeff=-0.1824;MLEAC=5;MLEAF=0.156;MQ=59.18;MQRankSum=-9.875e+00;QD=0.84;ReadPosRankSum=-2.533e+00;SOR=2.009	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,9:86:99:0|1:125003357_G_A:146,0,3200:125003357	12	0	4	5
chr10	125003382	125003382	C	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.373delG:p.V125Wfs*17	.	.	420	832	265	5	0	275	0.141826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1000.95	71	chr10	125003381	.	AC	A	1000.95	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-1.186e+00;DP=1911;ExcessHet=2.5830;FS=6.426;InbreedingCoeff=-0.2047;MLEAC=7;MLEAF=0.167;MQ=59.12;MQRankSum=-9.613e+00;QD=1.33;ReadPosRankSum=-1.280e+00;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,10:94:99:0|1:125003381_AC_A:167,0,3487:125003381	14	0	7	0
chr10	125003448	125003448	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C307G:p.L103V	.	.	415	822	281	4	0	289	0.149509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.997	D	0.971	D	0.000	D	1.000	D	1.955	M	0.56	T	-0.711	T	0.257	T	0.772	1.617	11.36	1.83	0.176	2.720	9.074	0.276	0.0482046556134	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs3198920	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.46129	T	0.06	0.70582	T	0.977	0.70673	D	0.695	0.72444	P	0.000204	0.47681	D	0.143597	0.999973	0.53665	D	1.24	0.30952	L	0.56	0.54540	T	-2.77	0.59545	D	0.749	0.74918	-0.7112	0.59893	T	0.257	0.62699	T	10	0.56829476	0.65175	D	0.048205	0.63269	D	0.276	0.59253	0.336	0.32491	0.772200913293	0.77011	0.9284518054969177	0.92823	1.54105169968	0.87712	0.653429269791	0.60473	T	0.450833	0.79179	T	0.0930372	0.63530	D	-0.104135	0.63075	T	0.921929836273193	0.58181	D	0.835916	0.50694	T	0.38344187	0.59564	0.2654763	0.52381	0.38344187	0.59565	0.2654763	0.52380	-11.24	0.86033	D	.	.	0.857	0.85926	P	.;.;.;.;.;.	.;.;.;.;.;.	4.413740	0.68303	25.2	0.95986553857963608	0.28374	0.93332	0.57934	D	AEFDBHCI	0.721280	0.67158	D	0.197166407657861	0.51063	3.290622	0.0912559216929815	0.44107	2.69894	0.999999466762818	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	1.83	0.24279	4.055000	0.57153	3.753000	0.39691	-0.154000	0.11915	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.3038:0.0:0.6962:0.0	9.074	0.35672	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.25	1450.32	72	chr10	125003448	.	G	C	1450.32	.	AC=8;AF=0.250;AN=32;BaseQRankSum=-9.980e-01;DP=1678;ExcessHet=3.5521;FS=10.491;InbreedingCoeff=-0.3485;MLEAC=10;MLEAF=0.313;MQ=59.04;MQRankSum=-7.966e+00;QD=2.01;ReadPosRankSum=1.23;SOR=1.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,10:91:99:0|1:125003425_G_C:176,0,3371:125003425	8	0	8	5
chr10	125003450	125003450	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C305T:p.P102L	.	.	415	825	279	3	0	285	0.147287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	N	1.000	D	1.955	M	0.4	T	-0.394	T	0.310	T	0.845	3.342	17.25	3.81	1.107	9.869	15.129	0.538	0.184870613505	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796256730	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.68238	D	0.003	0.83351	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	N	0.048585	1	0.81001	D	2.215	0.62545	M	0.4	0.57261	T	-9.29	0.98415	D	0.771	0.82559	-0.3944	0.72203	T	0.310	0.68003	T	10	0.77988756	0.77765	D	0.184871	0.85777	D	0.538	0.80664	0.515	0.61459	0.793810481979	0.79189	0.9928132138473921	0.99277	2.02998117833	0.94073	0.801052808762	0.82123	T	0.591617	0.86780	D	0.254993	0.79067	D	0.128504	0.78794	D	0.999326944351196	0.96966	D	0.948805	0.80311	D	0.80739933	0.84383	0.63186806	0.78521	0.80739933	0.84384	0.63186806	0.78522	-10.77	0.87601	D	.	.	0.981	0.91262	P	.;.;.;.;.;.	.;.;.;.;.;.	5.876492	0.93912	33	0.99537415390314665	0.70274	0.97949	0.78358	D	AEFDBHCI	0.949159	0.96151	D	0.396560092074224	0.61236	4.321908	0.310569273267847	0.56158	3.779008	0.999999999991253	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	3.81	0.43020	10.003000	0.99689	11.566000	0.93257	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1423:0.8577:0.0	15.129	0.72177	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2188	661.1	67	chr10	125003450	.	G	A	661.1	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-1.342e+00;DP=1603;ExcessHet=2.5830;FS=2.196;InbreedingCoeff=-0.2922;MLEAC=8;MLEAF=0.250;MQ=59.24;MQRankSum=-8.454e+00;QD=1.06;ReadPosRankSum=0.993;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,9:87:99:0|1:125003425_G_C:143,0,3248:125003425	9	0	7	5
chr10	125003454	125003454	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.301delC:p.R101Afs*19	.	.	418	851	251	2	0	255	0.130301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.007e-07	3.42e-06	0	1.411e-06	.	0	0	.	.	0	0	0	0	1.924e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	626.51	67	chr10	125003453	.	CG	C	626.51	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-1.108e+00;DP=1598;ExcessHet=2.5830;FS=2.198;InbreedingCoeff=-0.1999;MLEAC=7;MLEAF=0.167;MQ=59.25;MQRankSum=-8.630e+00;QD=0.99;ReadPosRankSum=0.814;SOR=0.914	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,9:86:99:0|1:125003425_G_C:146,0,3206:125003425	14	0	7	0
chr10	125003460	125003460	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C295A:p.H99N	.	.	415	860	246	1	0	248	0.126016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.926	P	0.711	P	0.000	D	1.000	D	1.24	L	-1.65	D	0.171	D	0.548	D	0.535	3.112	16.40	4.72	2.350	9.476	18.050	0.554	0.0669258259103	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs796388243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.56456	D	0.108	0.50514	T	0.168	0.51467	B	0.138	0.54536	B	0.000186	0.48115	D	0.218873	0.999987	0.54805	D	2.135	0.59519	M	-1.65	0.83737	D	-4.47	0.78388	D	0.766	0.79214	0.171	0.85422	D	0.548	0.83407	D	10	0.6328803	0.68617	D	0.066926	0.70016	D	0.554	0.81601	0.416	0.45544	0.767328355039	0.76520	0.9728822579583015	0.97277	2.0305426451	0.94091	0.756400108337	0.75394	T	0.434559	0.78160	T	0.131495	0.67506	D	-0.0488934	0.67098	D	0.986545503139496	0.77236	D	0.927207	0.73169	D	0.4496781	0.64020	0.3526759	0.60841	0.4496781	0.64021	0.3526759	0.60840	-9.806	0.74846	D	.	.	0.451	0.62246	A	.;.;.;.;.;.	.;.;.;.;.;.	5.089181	0.84970	28.5	0.977327532623396	0.35628	0.98388	0.82268	D	AEFDBHCI	0.954424	0.97151	D	0.316318154352101	0.56987	3.864403	0.376191892726831	0.60101	4.194	1.0	0.98316	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	7.744000	0.83944	8.399000	0.77102	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2188	661.11	63	chr10	125003460	.	G	T	661.11	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-1.362e+00;DP=1555;ExcessHet=2.5830;FS=3.478;InbreedingCoeff=-0.2923;MLEAC=8;MLEAF=0.250;MQ=59.26;MQRankSum=-8.513e+00;QD=1.08;ReadPosRankSum=0.369;SOR=0.956	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,9:84:99:0|1:125003425_G_C:152,0,3122:125003425	9	0	7	5
chr10	125003466	125003466	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C289A:p.P97T	.	.	410	877	234	1	0	236	0.118593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.987	D	0.766	P	0.000	D	1.000	D	1.67	L	-2.02	D	0.518	D	0.688	D	0.829	3.996	20.5	4.72	2.350	9.750	18.050	0.847	0.176108028638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.025	0.64786	D	0.948	0.61912	P	0.514	0.56676	P	0.000117	0.50451	D	0.214717	1	0.81001	D	2.215	0.62545	M	-2.13	0.86349	D	-6.05	0.89796	D	0.689	0.82559	0.518	0.90792	D	0.688	0.89243	D	10	0.8365156	0.82808	D	0.176108	0.85198	D	0.847	0.95249	0.689	0.82653	0.928801495259	0.92807	0.9831479306831125	0.98306	2.09264733632	0.94735	0.676425933838	0.63756	T	0.542494	0.84360	D	0.336779	0.85619	D	0.245983	0.85429	D	0.99172455072403	0.82061	D	0.955104	0.83186	D	0.7142099	0.78840	0.5802387	0.75671	0.7142099	0.78841	0.5802387	0.75672	-5.592	0.70616	T	.	.	0.756	0.75321	P	.;.;.;.;.;.	.;.;.;.;.;.	5.016100	0.83334	28.0	0.99771334295315606	0.85918	0.97924	0.78163	D	AEFDBHCI	0.917308	0.88472	D	0.627757786435649	0.74937	6.218313	0.643900769394684	0.78156	6.820169	0.999999999980549	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	9.883000	0.98528	11.568000	0.93268	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1944	704.07	63	chr10	125003466	.	G	T	704.07	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-1.194e+00;DP=1529;ExcessHet=2.5830;FS=5.480;InbreedingCoeff=-0.2613;MLEAC=8;MLEAF=0.222;MQ=59.27;MQRankSum=-8.513e+00;QD=1.19;ReadPosRankSum=0.161;SOR=1.028	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,9:79:99:0|1:125003425_G_C:167,0,2912:125003425	11	0	7	3
chr10	125003468	125003468	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.G287T:p.G96V	.	.	413	879	229	1	0	231	0.116139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.986	D	0.674	P	0.000	D	1.000	D	1.795	L	-2.03	D	0.404	D	0.665	D	0.926	3.651	18.56	4.72	2.350	5.914	18.050	0.808	0.205810925829	7.9e-05	.	9.126e-06	0	0	0	0	1.654e-05	0	0	6.5e-06	1	154602	rs368195398	7.039e-07	2.052e-06	0	1.418e-06	1.229e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.229e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	4.831e-05	2.19e-06	8.2e-07	8.01e-06	3e-06	4.831e-05	0	0	0	0	0	0	0	0	0	0.002	0.91255	D	0.003	0.83351	D	0.758	0.56768	P	0.345	0.52270	B	0.000015	0.62929	D	0.153474	1	0.81001	D	2.215	0.62545	M	-2.07	0.87116	D	-6.7	0.93786	D	0.885	0.91162	0.404	0.89161	D	0.665	0.88381	D	10	0.9020648	0.89569	D	0.205811	0.87005	D	0.808	0.93777	.	.	0.940972417782	0.94036	0.9830957384624965	0.98301	0.580823813372	0.53909	0.771838724613	0.77700	T	0.670241	0.90204	D	0.414705	0.90739	D	0.357919	0.90623	D	0.97039270401001	0.68933	D	0.830817	0.50504	T	0.82183003	0.85343	0.73988026	0.84624	0.82183003	0.85344	0.73988026	0.84625	-14.257	0.93861	D	.	.	0.903	0.82932	P	.;.;.;.;.;.	.;.;.;.;.;.	5.052849	0.84171	28.2	0.99572167466560413	0.72440	0.94853	0.62557	D	AEFDBHCI	0.865967	0.78524	D	0.502445831928042	0.67234	5.054572	0.519224250986091	0.69285	5.338541	0.999999999980549	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	4.865000	0.62695	5.821000	0.50083	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2059	682.08	63	chr10	125003468	.	C	A	682.08	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-9.480e-01;DP=1516;ExcessHet=2.5830;FS=5.480;InbreedingCoeff=-0.2727;MLEAC=8;MLEAF=0.235;MQ=59.27;MQRankSum=-8.454e+00;QD=1.16;ReadPosRankSum=-3.400e-02;SOR=0.988	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,9:74:99:0|1:125003425_G_C:182,0,2702:125003425	10	0	7	4
chr10	125003470	125003470	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C285A:p.N95K	.	.	414	877	230	1	0	232	0.116818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.936	P	0.548	P	0.000	N	1.000	D	1.795	L	-1.74	D	-0.145	T	0.509	D	0.535	2.434	14.10	2.83	0.513	1.589	5.756	0.443	0.196846434944	.	.	.	.	.	.	.	.	.	.	.	.	.	rs797010536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.53172	T	0.133	0.38160	T	0.024	0.52359	B	0.023	0.49136	B	0.000107	0.50451	N	0.228572	0.999907	0.50806	D	0.84	0.21119	L	-1.74	0.85173	D	-4.45	0.77717	D	0.707	0.80572	-0.1451	0.79039	T	0.509	0.81527	D	10	0.6498769	0.69541	D	0.196846	0.86503	D	0.443	0.74588	0.388	0.40951	0.817883718107	0.81616	0.9725668737270228	0.97245	0.555298206099	0.52229	0.665825009346	0.62241	T	0.506962	0.82492	D	0.0861848	0.62758	D	-0.113978	0.62294	T	0.98187917470932	0.74162	D	0.883312	0.60567	D	0.2881824	0.51823	0.250968	0.50698	0.2881824	0.51823	0.250968	0.50697	-15.247	0.96521	D	.	.	0.973	0.89808	P	.;.;.;.;.;.	.;.;.;.;.;.	4.647796	0.74053	26.1	0.9874692024541335	0.45587	0.88075	0.47847	D	AEFDBHCI	0.574998	0.57756	D	-0.046368544377228	0.39764	2.350313	0.00799731341758868	0.40086	2.38672	0.999998763134182	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	2.83	0.32150	1.613000	0.36512	7.263000	0.57966	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1598:0.0:0.6829:0.1573	5.756	0.17440	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2188	672.89	63	chr10	125003470	.	G	T	672.89	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-3.170e-01;DP=1506;ExcessHet=2.5830;FS=6.678;InbreedingCoeff=-0.2894;MLEAC=8;MLEAF=0.250;MQ=59.26;MQRankSum=-8.448e+00;QD=1.17;ReadPosRankSum=-2.280e-01;SOR=0.905	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,9:73:99:0|1:125003425_G_C:185,0,2660:125003425	9	0	7	5
chr10	125039033	125039033	T	A	exonic	CTBP2	.	stopgain	CTBP2:NM_001321013:exon2:c.A22T:p.K8X	.	.	432	1023	67	0	0	67	0.0317085	.	.	1330655	not_specified|Pulmonary_artery_atresia	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	A	.	.	.	.	.	.	.	.	.	6.130	37	5.28	2.217	5.606	13.948	.	.	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001537	4	26028	rs76555439	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.903	0.90363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47795	0.93627	D	0.448766	0.93547	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	9.829600	0.99355	43	0.99586803091769216	0.73336	0.87743	0.47386	D	AEFGBHCI	0.077324	0.15576	N	0.854919915911592	0.89387	9.950527	0.733718632913773	0.84935	8.434	0.999999999999905	0.74766	0.645754	0.44609	0	0.627178	0.54094	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.743000	0.68032	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	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	0.2857	1731.31	135	chr10	125039033	.	T	A	1731.31	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-2.532e+00;DP=2371;ExcessHet=9.6308;FS=3.604;InbreedingCoeff=-0.4064;MLEAC=12;MLEAF=0.286;MQ=58.76;MQRankSum=-1.194e+01;QD=0.98;ReadPosRankSum=0.141;SOR=0.366	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,10:140:29:0|1:125039033_T_A:29,0,5355:125039033	9	0	12	0
chr10	125039035	125039035	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001321013:exon2:c.A20G:p.H7R	.	.	434	1022	66	0	0	66	0.0312796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.0	B	0.001	B	.	.	1.000	N	1.61	L	-1.53	D	-0.716	T	0.384	T	0.78	2.124	13.06	5.28	2.217	5.606	13.948	0.314	0.0169483827955	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001921	5	26028	rs78849795	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.15509	T	0.911	0.02952	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.976171	0.25390	N	1.155	0.29575	L	-1.53	0.81559	D	-0.28	0.11547	N	0.556	0.58117	-0.7162	0.59649	T	0.384	0.73988	T	9	0.2395181	0.41094	T	0.016948	0.38442	T	0.314	0.63588	0.302	0.27003	0.989459454501	0.98934	.	.	.	.	.	.	.	0.157543	0.50018	T	0.164577	0.70624	D	-0.00137324	0.70247	D	0.378074373079758	0.28108	T	0.886111	0.61235	D	0.15569115	0.35175	0.15271002	0.35916	0.15569115	0.35174	0.15271002	0.35915	-2.736	0.07610	T	.	.	0.160	0.48978	B	.;.;.;.	.;.;.;.	3.581586	0.50496	23.0	0.96844956273467708	0.31320	0.86671	0.46001	D	AEFGBHCI	0.757168	0.69621	D	-0.0152146198236119	0.41167	2.457583	0.165997750048251	0.47996	3.021633	0.999999999999905	0.74766	0.645754	0.44609	0	0.60822	0.50512	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.749000	0.68113	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2857	1731.31	135	chr10	125039035	.	T	C	1731.31	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-2.484e+00;DP=2344;ExcessHet=9.6308;FS=3.604;InbreedingCoeff=-0.4064;MLEAC=12;MLEAF=0.286;MQ=58.74;MQRankSum=-1.194e+01;QD=0.98;ReadPosRankSum=0.412;SOR=0.366	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,10:140:29:0|1:125039033_T_A:29,0,5355:125039033	9	0	12	0
chr10	127737677	127737677	A	T	exonic	FOXI2	.	nonsynonymous SNV	FOXI2:NM_207426:exon1:c.A404T:p.N135I,	.	.	1	1503	18	0	0	18	0.00595238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.999	D	0.981	D	0.000	D	1.000	D	2.67	M	-3.75	D	0.927	D	0.907	D	0.514	3.926	19.98	1.98	0.603	4.800	11.449	0.730	0.396174944489	.	.	0.0008	0	0	0	0	7.91e-05	0	0.0035	0.0002587	40	154602	rs754235951	0.0002	0.0002	0.0001	0.0003	0.0026	0.0002	0.0002	0.0023	0.0022	3.025e-05	2.364e-05	0	0	0	0.0026	3.8e-05	0.0004	0.0025	9.857e-05	9.85e-05	5.139e-05	0.0001	0.0014	6.007e-05	4.88e-05	0.0007	0.0005	0	0	0	0	0	0	0	0.0001	0	0.0014	0.0	0.91255	D	0.002	0.79402	D	0.999	0.77913	D	0.981	0.75168	D	0.000003	0.62929	D	0.057532	0.999943	0.51968	D	2.195	0.61839	M	-3.75	0.95528	D	-7.81	0.95950	D	0.719	0.72120	0.927	0.96059	D	0.907	0.96902	D	10	0.18564528	0.33993	T	0.396175	0.93297	D	0.730	0.90545	0.525	0.62967	0.693484647507	0.69084	0.6979705874390043	0.69738	1.74758098799	0.90959	0.539196252823	0.44332	T	0.786532	0.94413	D	-0.123749	0.32511	T	0.0422031	0.73071	D	0.219594404101372	0.21444	T	0.933407	0.75038	D	0.9106991	0.92360	0.84817845	0.91382	0.9106991	0.92361	0.84817845	0.91383	-10.346	0.75957	D	.	.	0.624	0.69877	P	.	.	4.485907	0.70031	25.5	0.99201932497641809	0.55321	0.80378	0.40031	D	AEFDBCIJ	0.607264	0.59729	D	0.471953758831028	0.65458	4.825181	0.362298414807579	0.59251	4.101482	0.997197198505474	0.35363	0.59774	0.34471	0	0.59043	0.45803	0	0.666236	0.60216	0	0.63947	0.58350	0	.	.	4.67	1.98	0.25351	4.009000	0.56822	2.930000	0.35611	-0.054000	0.16847	1.000000	0.71638	1.000000	0.68203	0.842000	0.39752	0.7023:0.2977:0.0:0.0	11.449	0.49383	783	0.47268	Fork head domain|Fork head domain|Fork head domain|Fork head domain|Fork head domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1843.98	33	chr10	127737677	.	A	T	1843.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.009e+00;DP=860;ExcessHet=0.0000;FS=4.205;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.99;ReadPosRankSum=0.549;SOR=0.432	GT:AD:DP:GQ:PL	0/1:68,74:142:99:1858,0,1759	20	0	1	0
chr10	132168061	132168061	C	T	exonic	JAKMIP3	.	nonsynonymous SNV	JAKMIP3:NM_001323086:exon23:c.C2641T:p.P881S,	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0019	0	0	0	0	0	0	0.0030	0.0001617	25	154602	rs568352601	0.0002	0.0001	0.0001	0.0003	0.0022	0.0002	0.0002	0.0019	0.0018	8.192e-05	3.538e-05	0	0	0	0.0011	3.149e-05	0.0003	0.0022	7.879e-05	7.874e-05	8.994e-05	6.714e-05	0.0015	4.494e-05	3.51e-05	0.0007	0.0005	4.811e-05	0	0	0	0	0	0	4.41e-05	0	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.02381	2025.98	42	chr10	132168061	.	C	T	2025.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.553;DP=1621;ExcessHet=0.0000;FS=2.010;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.16;ReadPosRankSum=0.536;SOR=0.538	GT:AD:DP:GQ:PL	0/1:72,82:154:99:2040,0,1707	20	0	1	0
chr11	627073	627073	C	A	exonic	SCT	.	nonsynonymous SNV	SCT:NM_021920:exon1:c.G71T:p.R24M,	.	.	.	.	.	.	.	.	.	0.9992	0.978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998	D	0.926	D	.	.	1.000	N	1.935	M	0.6	T	-0.872	T	0.261	T	0.369	2.896	15.65	2.05	1.484	1.258	10.203	0.115	0.25570259963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.926	0.66095	D	.	.	.	.	0.99987	0.19925	N	2.16	0.60381	M	0.6	0.53731	T	-3.26	0.65397	D	0.4	0.44090	-0.8717	0.50401	T	0.261	0.63154	T	8	0.4095176	0.56127	T	0.255703	0.89301	D	0.115	0.32236	0.211	0.12923	0.732440012813	0.73005	0.26256778344155945	0.26169	0.280942309642	0.30564	0.927100658417	0.98815	D	0.245137	0.61438	T	-0.0599079	0.42922	T	-0.32383	0.42152	T	0.912391841411591	0.56828	D	.	.	.	0.24401537	0.47346	0.4099517	0.65270	0.24401537	0.47346	0.4099517	0.65270	-6.688	0.51720	T	.	.	0.899	0.82660	P	.	.	4.751867	0.76731	26.6	0.95755750262895922	0.27736	0.57350	0.30354	D	AEFDBI	0.172981	0.30004	N	0.116508848967698	0.47233	2.951892	-0.0765672972167919	0.36361	2.115121	0.998359227954309	0.36814	0.59774	0.34471	0	0.514364	0.08380	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	2.05	2.05	0.25860	1.507000	0.35365	3.712000	0.39559	0.415000	0.20742	0.997000	0.40164	1.000000	0.68203	0.687000	0.33748	0.0:1.0:0.0:0.0	10.203	0.42275	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.0625	36.96	2	chr11	627073	.	C	A	36.96	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-9.670e-01;DP=47;ExcessHet=0.0000;FS=0.000;MLEAC=3;MLEAF=0.188;MQ=60.00;MQRankSum=0.00;QD=12.32;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:31:40,0,31	7	0	1	13
chr11	637504	637504	C	T	exonic	DRD4	.	nonsynonymous SNV	DRD4:NM_000797:exon1:c.C200T:p.T67M,	Autonomic nervous system dysfunction (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	U	1.000	D	.	.	0.86	T	-0.448	T	0.279	T	0.62	3.662	18.61	2.45	1.374	3.601	12.027	0.404	0.622396136425	.	0.000399361	0.0006	0	0	0	0	0.0001	0	0.0014	0.0001358	21	154602	rs577139102	7.107e-05	7.798e-05	4.924e-05	9.335e-05	0.0009	5.935e-05	5.533e-05	0.0007	0.0007	3.074e-05	0	0	5.367e-05	0	0	1.835e-05	8.529e-05	0.0009	5.91e-05	5.905e-05	3.855e-05	8.057e-05	0.0012	3.075e-05	2.209e-05	0.0005	0.0004	0	0	0	0	0	0	0	4.411e-05	0	0.0012	0.0	0.91255	D	0.001	0.83351	D	.	.	.	.	.	.	0.000002	0.62929	U	0.000000	0.99998	0.54805	D	.	.	.	0.86	0.46777	T	-4.5	0.78135	D	0.616	0.63204	-0.4478	0.70473	T	0.279	0.65037	T	9	0.3634107	0.52911	T	0.622396	0.96734	D	0.404	0.71714	0.627	0.76254	0.827040936642	0.82540	0.7842004260592811	0.78371	0.294285333989	0.31851	0.901848077774	0.96643	D	.	.	.	-0.273621	0.11356	T	-0.234637	0.51322	T	0.347691759876977	0.26928	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456	0.62523	A	.	.	4.726689	0.76090	26.4	0.99536144091251444	0.70212	0.91151	0.52960	D	AEFDBI	0.520378	0.54526	D	0.385319726646393	0.60625	4.253595	0.287140255914604	0.54788	3.642811	0.999999999963185	0.74766	0.766844	0.99359	0	0.627178	0.54094	0	0.851219	0.99655	0	0.554799	0.18163	0	.	.	2.45	2.45	0.28953	3.873000	0.55806	7.323000	0.58172	0.503000	0.22915	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	12.027	0.52674	929	0.16858	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1032.98	35	chr11	637504	.	C	T	1032.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.03;DP=781;ExcessHet=0.0000;FS=3.881;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.11;ReadPosRankSum=0.559;SOR=0.660	GT:AD:DP:GQ:PL	0/1:50,43:93:99:1047,0,1112	20	0	1	0
chr11	1016991	1016991	T	0	exonic	MUC6	.	.	.	.	.	358	255	795	7	107	916	0.613343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	62335.98	527	chr11	1016991	.	T	*,G	62335.98	.	AC=2,17;AF=0.048,0.405;AN=42;BaseQRankSum=3.01;DP=12391;ExcessHet=36.0830;FS=1.214;InbreedingCoeff=-0.8261;MLEAC=2,17;MLEAF=0.048,0.405;MQ=54.84;MQRankSum=-1.661e+01;QD=5.45;ReadPosRankSum=-4.007e+00;SOR=0.802	GT:AD:DP:GQ:PL	0/1:384,69,0:453:99:1742,0,15694,2897,15901,18799	2	0	2	0
chr11	1017464	1017464	T	0	exonic	MUC6	.	.	.	.	.	358	217	98	1	848	948	0.187266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	62761.5	562	chr11	1017464	.	T	G,C,*	62761.5	.	AC=4,11,5;AF=0.100,0.275,0.125;AN=40;BaseQRankSum=3.67;DP=13460;ExcessHet=43.6797;FS=0.579;InbreedingCoeff=-0.9535;MLEAC=4,11,5;MLEAF=0.100,0.275,0.125;MQ=56.28;MQRankSum=-1.476e+01;QD=5.03;ReadPosRankSum=3.18;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:370,23,109,0:502:99:.:.:3463,3611,19078,0,14551,15184,4577,19139,15515,20101	0	0	4	1
chr11	1017466	1017466	T	0	exonic	MUC6	.	.	.	.	.	0	26	52	0	148	200	0.5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	54938.57	566	chr11	1017466	.	T	C,A,*	54938.57	.	AC=13,3,5;AF=0.310,0.071,0.119;AN=42;BaseQRankSum=2.07;DP=13458;ExcessHet=54.0936;FS=0.611;InbreedingCoeff=-1.0000;MLEAC=13,3,5;MLEAF=0.310,0.071,0.119;MQ=56.42;MQRankSum=-1.354e+01;QD=4.16;ReadPosRankSum=3.19;SOR=0.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:383,64,61,0:508:99:.:.:1538,0,15888,112,13524,16008,2682,16081,16194,18760	0	0	13	0
chr11	1017467	1017467	G	0	exonic	MUC6	.	.	.	.	.	336	797	216	0	173	389	0.119337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	2402.58	548	chr11	1017467	.	G	A,*	2402.58	.	AC=6,3;AF=0.200,0.100;AN=30;BaseQRankSum=2.71;DP=13253;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.4000;MLEAC=7,4;MLEAF=0.233,0.133;MQ=56.65;MQRankSum=-5.514e+00;QD=0.40;ReadPosRankSum=0.240;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:464,45,0:509:99:.:.:473,0,19348,1869,19483,21353	6	0	6	6
chr11	1017470	1017470	G	0	exonic	MUC6	.	.	.	.	.	0	29	117	0	80	197	0.668571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	88683.23	557	chr11	1017470	.	G	T,*	88683.23	.	AC=15,5;AF=0.375,0.125;AN=40;BaseQRankSum=0.038;DP=13562;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9535;MLEAC=15,5;MLEAF=0.375,0.125;MQ=56.60;MQRankSum=-1.458e+01;QD=7.02;ReadPosRankSum=3.68;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:390,119,0:509:99:0|1:1017440_C_T:3823,0,16018,4997,16376,21373:1017440	0	0	15	1
chr11	1017474	1017474	G	0	exonic	MUC6	.	.	.	.	.	342	447	564	2	167	735	0.388509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	11964.24	565	chr11	1017474	.	G	A,*	11964.24	.	AC=13,5;AF=0.342,0.132;AN=38;BaseQRankSum=-3.530e-01;DP=13558;ExcessHet=30.0624;FS=0.861;InbreedingCoeff=-0.8261;MLEAC=14,5;MLEAF=0.368,0.132;MQ=56.37;MQRankSum=-7.879e+00;QD=1.05;ReadPosRankSum=1.66;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:453,60,0:513:99:0|1:1017458_A_G:1156,0,18841,2519,19021,21541:1017458	1	0	13	2
chr11	1017483	1017483	T	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	81106.23	565	chr11	1017483	.	T	G,*	81106.23	.	AC=15,5;AF=0.375,0.125;AN=40;BaseQRankSum=6.32;DP=13450;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9535;MLEAC=15,5;MLEAF=0.375,0.125;MQ=56.60;MQRankSum=-1.502e+01;QD=6.50;ReadPosRankSum=3.20;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:411,105,0:516:99:0|1:1017440_C_T:3172,0,16942,4409,17258,21667:1017440	0	0	15	1
chr11	1017489	1017489	G	0	exonic	MUC6	.	.	.	.	.	344	749	262	0	167	429	0.148864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	7292.49	575	chr11	1017489	.	G	A,*	7292.49	.	AC=12,5;AF=0.300,0.125;AN=40;BaseQRankSum=5.22;DP=13481;ExcessHet=25.1139;FS=0.874;InbreedingCoeff=-0.6876;MLEAC=12,5;MLEAF=0.300,0.125;MQ=56.46;MQRankSum=-8.490e+00;QD=0.71;ReadPosRankSum=0.688;SOR=0.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:474,48,0:522:99:0|1:1017489_G_A:589,0,19759,2016,19903,21919:1017489	3	0	12	1
chr11	1017498	1017498	C	0	exonic	MUC6	.	.	.	.	.	7	56	24	0	139	163	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	21074.63	572	chr11	1017498	.	C	G,T,*	21074.63	.	AC=7,4,7;AF=0.194,0.111,0.194;AN=36;BaseQRankSum=-3.970e-01;DP=13422;ExcessHet=30.0624;FS=1.184;InbreedingCoeff=-0.8667;MLEAC=8,4,8;MLEAF=0.222,0.111,0.222;MQ=56.34;MQRankSum=-1.681e+01;QD=1.81;ReadPosRankSum=3.85;SOR=0.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:424,14,69,0:507:99:.:.:1564,2535,19851,0,17072,17919,2897,19971,18129,21028	0	0	7	3
chr11	1017504	1017504	G	0	exonic	MUC6	.	.	.	.	.	339	904	113	0	166	279	0.0588235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	2301.88	593	chr11	1017504	.	G	A,*	2301.88	.	AC=6,4;AF=0.176,0.118;AN=34;BaseQRankSum=3.07;DP=13147;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3958;MLEAC=7,5;MLEAF=0.206,0.147;MQ=56.93;MQRankSum=-1.066e+01;QD=0.38;ReadPosRankSum=-8.910e-01;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:499,36,0:535:10:0|1:1017489_G_A:10,0,20772,1512,20881,22392:1017489	7	0	6	4
chr11	1017514	1017514	A	0	exonic	MUC6	.	.	.	.	.	2	59	85	0	80	165	0.418719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	104987.83	590	chr11	1017514	.	A	G,*	104987.83	.	AC=15,4;AF=0.395,0.105;AN=38;BaseQRankSum=-1.403e+00;DP=13650;ExcessHet=36.0830;FS=1.234;InbreedingCoeff=-0.9091;MLEAC=16,4;MLEAF=0.421,0.105;MQ=56.57;MQRankSum=-1.729e+01;QD=8.60;ReadPosRankSum=3.73;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:463,73,0:536:99:.:.:1338,0,18300,2731,18519,21251	0	0	15	2
chr11	1017891	1017891	G	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4910A:p.A1637E,	.	.	342	893	161	0	126	287	0.0826913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.985	D	0.885	P	.	.	1.000	N	0.345	N	2.22	T	-1.093	T	0.035	T	0.087	0.677	7.621	-1.75	-0.596	-1.666	9.313	0.060	0.00160847877757	.	.	3.335e-05	0	0	0	0.0002	4.536e-05	0	0	.	.	.	.	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0007	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.014	0.53172	D	0.113	0.36901	T	0.985	0.61118	D	0.885	0.62825	P	.	.	.	.	1	0.08975	N	1.3	0.32576	L	2.22	0.18248	T	-0.18	0.09796	N	0.053	0.02462	-1.0932	0.05020	T	0.035	0.15074	T	9	0.102692544	0.18837	T	0.001608	0.02600	T	0.060	0.17295	.	.	0.281780670237	0.27795	0.09278683405377418	0.09210	0.103695909574	0.11733	0.165941432118	0.00020	T	0.020064	0.15863	T	-0.330459	0.06077	T	-0.712458	0.05169	T	0.0870277977061818	0.10862	T	.	.	.	0.080301575	0.18392	0.11164214	0.26933	0.080301575	0.18391	0.11164214	0.26932	-9.307	0.69651	D	.	.	0.118	0.23986	B	.	.	1.309505	0.17126	12.97	0.3105354391461434	0.01730	0.01241	0.04378	N	AEFDGBCI	0.027707	0.02312	N	-0.93578728676145	0.10013	0.4765682	-1.16165150961472	0.06561	0.3162101	0.999990071190048	0.74766	0.675202	0.55065	0	0.606735	0.50208	0	0.67197	0.60751	0	0.264475	0.05362	3	.	.	2.39	-1.75	0.07598	-0.994000	0.03827	-3.104000	0.03058	0.514000	0.23422	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.4593:0.5407	9.313	0.37079	825	0.40060	.	.	.	.	.	.	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	0.09524	7053.15	335	chr11	1017891	.	GCA	G,TCA	7053.15	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=-2.652e+00;DP=9393;ExcessHet=0.6776;FS=3.414;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=56.21;MQRankSum=-1.089e+01;QD=3.00;ReadPosRankSum=-1.562e+00;SOR=1.070	GT:AD:DP:GQ:PL	0/1:566,60,6:632:99:722,0,23402,2201,23375,26166	17	0	3	0
chr11	1017892	1017892	C	0	exonic	MUC6	.	.	.	.	.	354	873	156	4	135	299	0.0858639	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	3030.61	335	chr11	1017892	.	C	*,G	3030.61	.	AC=3,1;AF=0.079,0.026;AN=38;BaseQRankSum=-1.327e+00;DP=9322;ExcessHet=0.6776;FS=4.471;InbreedingCoeff=-0.1351;MLEAC=3,1;MLEAF=0.079,0.026;MQ=56.21;MQRankSum=-1.086e+01;QD=1.30;ReadPosRankSum=-1.667e+00;SOR=1.123	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:561,59,6:627:99:.:.:697,0,23238,2162,23201,25938	15	0	3	2
chr11	1018226	1018226	T	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	11874.25	178	chr11	1018226	.	T	G,*	11874.25	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=4.07;DP=3953;ExcessHet=20.9642;FS=12.534;InbreedingCoeff=-0.6154;MLEAC=15,1;MLEAF=0.357,0.024;MQ=57.35;MQRankSum=-8.912e+00;QD=3.83;ReadPosRankSum=0.169;SOR=1.148	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:124,30,11:165:99:.:.:886,0,5116,798,4745,5971	5	0	15	0
chr11	1018290	1018290	G	A	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4511T:p.P1504L,	.	.	414	746	107	2	253	364	0.0692452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.0	B	.	.	1.000	N	0	N	2.32	T	-1.013	T	0.014	T	0.033	-1.839	0.009	-4.82	-3.424	-4.810	0.642	0.004	0.00130114034182	.	.	0.0003	0.0006	0.0002	0.0001	0.0005	0.0003	0.0011	0	1.94e-05	3	154602	rs776891354	1.107e-05	3.01e-05	1.651e-05	5.562e-06	2.261e-05	6.55e-06	5.3e-06	8.17e-06	6.48e-06	0	2.261e-05	0	0	0	0	1.361e-05	0	0	0.0001	0.0098	0.0001	9.374e-05	0.0007	5.246e-05	3.934e-05	0.0001	5.226e-05	0.0001	0	0	0	0.0007	0	0	9.554e-05	0	0	0.087	0.32453	T	0.452	0.12884	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	2.32	0.16640	T	-0.07	0.08033	N	0.067	0.03956	-1.0134	0.25848	T	0.014	0.05465	T	9	0.022066832	0.00542	T	0.001301	0.01809	T	0.004	0.00165	.	.	0.141422826196	0.13715	0.17699347360380507	0.17618	0.090681263109	0.10232	0.182567775249	0.00120	T	0.011815	0.10487	T	-0.418061	0.01760	T	-0.838292	0.01125	T	0.0714186060218739	0.08849	T	.	.	.	0.023426026	0.01081	0.02954413	0.01305	0.023426026	0.01081	0.02954413	0.01304	-3.396	0.15003	T	.	.	0.071	0.04041	B	.	.	-1.051810	0.00700	0.020	0.59025517677381145	0.06128	0.00427	0.02100	N	AEFDGBI	0.028602	0.02550	N	-2.28884873487817	0.00048	0.002069904	-2.37477325509698	0.00045	0.001973028	0.999941380871367	0.47345	0.69289	0.55638	0	0.550933	0.16991	0	0.517114	0.09559	2	0.508809	0.08732	0	.	.	2.41	-4.82	0.02938	-5.543000	0.00137	-20.000000	0.00162	-5.324000	0.00012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3114:0.1979:0.3276:0.1631	0.642	0.00759	825	0.40060	.	.	.	.	.	.	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	0.3571	5589.96	253	chr11	1018290	.	G	A,C	5589.96	.	AC=10,5;AF=0.238,0.119;AN=42;BaseQRankSum=4.42;DP=5021;ExcessHet=17.4423;FS=18.255;InbreedingCoeff=-0.5555;MLEAC=10,5;MLEAF=0.238,0.119;MQ=55.33;MQRankSum=-6.736e+00;QD=1.48;ReadPosRankSum=0.802;SOR=2.085	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:234,23,22:279:42:.:.:261,0,9756,42,8902,9801	6	0	10	0
chr11	1095600	1095600	T	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	568	942	10	2	0	14	0.00737619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1222385839	0.0047	0.0034	0.0045	0.0050	0.0150	0.0046	0.0045	0.0118	0.0107	0.0008	0.0083	0.0210	3.364e-05	0.0004	0.0150	0.0040	0.0070	0.0070	0.0043	0.0042	0.0044	0.0042	0.0101	0.0040	0.0039	0.0088	0.0082	0.0011	0	0.0101	0.0201	0	0.0003	0.0368	0.0046	0.0070	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	4219.11	74	chr11	1095600	.	T	A	4219.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.51;DP=2620;ExcessHet=0.1072;FS=2.297;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.88;MQRankSum=0.912;QD=12.34;ReadPosRankSum=0.733;SOR=0.823	GT:AD:DP:GQ:PL	0/1:107,87:194:99:2239,0,2706	19	0	2	0
chr11	1095935	1095935	A	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	564	957	1	0	0	1	0.000522193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1306026835	0.0001	0.0005	0.0001	0.0001	0.0004	0.0001	0.0001	0.0002	0.0002	0.0003	0.0004	0.0001	0.0004	0.0002	0	0.0001	0.0002	5.871e-05	0.0003	0.0006	0.0002	0.0004	0.0006	0.0002	0.0002	0.0002	0.0002	0.0005	0	0.0004	0	0.0005	0	0	0.0002	0.0011	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1916.98	74	chr11	1095935	.	A	T	1916.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.06;DP=3181;ExcessHet=0.0000;FS=50.147;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.95;MQRankSum=-2.209e+00;QD=6.56;ReadPosRankSum=-4.392e+00;SOR=2.188	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:228,64:292:99:0|1:1095935_A_T:1931,0,8373:1095935	20	0	1	0
chr11	1095938	1096006	ACACCCATCACCACCACCACCATGGTGACCCCAACCCCAACACCCACTGGAACACAGACCCAAACCCCA	-	exonic	MUC2	.	unknown	UNKNOWN,	.	.	571	950	1	0	0	1	0.000526039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.219e-05	6.392e-05	1.509e-05	9.232e-06	0.0001	7.22e-06	5.84e-06	3.949e-05	2.351e-05	0	5.846e-05	0	0.0001	0	0	6.855e-06	3.669e-05	1.293e-05	2.826e-05	0.0001	0	5.98e-05	3.728e-05	7.51e-06	4.08e-06	6.18e-06	2.31e-06	0	0	0	0	0	0.0002	0	3.728e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1871.94	74	chr11	1095937	.	GACACCCATCACCACCACCACCATGGTGACCCCAACCCCAACACCCACTGGAACACAGACCCAAACCCCA	G	1871.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=3291;ExcessHet=0.0000;FS=29.906;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.32;MQRankSum=-4.233e+00;QD=4.75;ReadPosRankSum=-5.337e+00;SOR=1.504	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:322,72:394:99:0|1:1095935_A_T:1886,0,12157:1095935	20	0	1	0
chr11	1095948	1095948	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	143278.47	224	chr11	1095948	.	C	G,*	143278.47	.	AC=40,1;AF=0.952,0.024;AN=42;BaseQRankSum=1.49;DP=4120;ExcessHet=0.0000;FS=1.823;InbreedingCoeff=-0.0244;MLEAC=40,1;MLEAF=0.952,0.024;MQ=54.83;MQRankSum=1.39;QD=32.74;ReadPosRankSum=1.46;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:11,193,72:276:99:1|0:1095935_A_T:9516,2620,2222,6923,0,8105:1095935	0	19	1	0
chr11	1095999	1095999	A	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	158783.66	219	chr11	1095999	.	A	T,C,*	158783.66	.	AC=40,1,1;AF=0.952,0.024,0.024;AN=42;BaseQRankSum=0.638;DP=4365;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,1,1;MLEAF=0.952,0.024,0.024;MQ=58.57;MQRankSum=11.29;QD=24.86;ReadPosRankSum=-1.695e+00;SOR=0.380	GT:AD:DP:GQ:PGT:PID:PL:PS	1|3:0,193,0,72:265:99:1|0:1095935_A_T:9707,2826,2247,9885,2843,10455,7077,0,7786,8098:1095935	0	19	0	0
chr11	1096143	1096212	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	.	508	767	11	0	236	247	0.00711974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	37726.02	456	chr11	1096143	.	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	T,*	37726.02	.	AC=12,8;AF=0.286,0.190;AN=42;BaseQRankSum=2.69;DP=11682;ExcessHet=26.8223;FS=0.000;InbreedingCoeff=-0.7182;MLEAC=12,8;MLEAF=0.286,0.190;MQ=57.74;MQRankSum=-5.520e+00;QD=5.63;ReadPosRankSum=-1.130e+00;SOR=0.704	GT:AD:DP:GQ:PL	0/1:268,152,0:420:99:3563,0,10390,4373,10895,15268	2	0	12	0
chr11	1096155	1096155	C	0	exonic	MUC2	.	.	.	.	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	2478.81	456	chr11	1096155	.	C	*,G	2478.81	.	AC=17,2;AF=0.425,0.050;AN=40;BaseQRankSum=1.10;DP=11237;ExcessHet=40.9761;FS=0.000;InbreedingCoeff=-0.8455;MLEAC=18,2;MLEAF=0.450,0.050;MQ=56.37;MQRankSum=-1.489e+00;QD=0.42;ReadPosRankSum=-3.800e+00;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:268,152,0:420:99:.:.:3563,0,10390,4373,10895,15268	1	0	17	1
chr11	1096155	1096155	C	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1362776823	0.0019	0.0052	0.0019	0.0019	0.0094	0.0018	0.0018	0.0083	0.0079	0.0094	0.0017	0.0027	6.019e-05	0.0067	0.0025	0.0016	0.0033	0.0002	0.0022	0.0038	0.0019	0.0025	0.0061	0.0020	0.0019	0.0054	0.0051	0.0061	0	0.0010	0.0004	0	0.0006	0	0.0006	0.0032	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.475	2478.81	456	chr11	1096155	.	C	*,G	2478.81	.	AC=17,2;AF=0.425,0.050;AN=40;BaseQRankSum=1.10;DP=11237;ExcessHet=40.9761;FS=0.000;InbreedingCoeff=-0.8455;MLEAC=18,2;MLEAF=0.450,0.050;MQ=56.37;MQRankSum=-1.489e+00;QD=0.42;ReadPosRankSum=-3.800e+00;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:268,152,0:420:99:.:.:3563,0,10390,4373,10895,15268	1	0	17	1
chr11	1096170	1096212	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	.	1	116	21	0	88	109	0.083004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	5334.59	473	chr11	1096170	.	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*,T	5334.59	.	AC=10,4;AF=0.313,0.125;AN=32;BaseQRankSum=2.94;DP=10251;ExcessHet=15.6281;FS=0.000;InbreedingCoeff=-0.6141;MLEAC=12,5;MLEAF=0.375,0.156;MQ=57.71;MQRankSum=-5.342e+00;QD=1.04;ReadPosRankSum=-1.810e+00;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:268,152,0:420:99:.:.:3563,0,10390,4373,10895,15268	2	0	10	5
chr11	1096180	1096180	C	0	exonic	MUC2	.	.	.	.	.	532	749	62	4	175	245	0.0446429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5333	9964.82	473	chr11	1096180	.	C	A,*	9964.82	.	AC=3,13;AF=0.100,0.433;AN=30;BaseQRankSum=1.20;DP=9719;ExcessHet=11.8260;FS=0.000;InbreedingCoeff=-0.6114;MLEAC=4,16;MLEAF=0.133,0.533;MQ=55.18;MQRankSum=-5.213e+00;QD=2.11;ReadPosRankSum=-3.960e-01;SOR=0.683	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:236,0,152:389:99:0|1:1096178_ACC_A:5426,5734,16238,0,9955,9255:1096178	0	1	1	6
chr11	1096181	1096181	C	0	exonic	MUC2	.	.	.	.	.	514	824	9	0	175	184	0.0054315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4643	3441.94	473	chr11	1096181	.	C	*,G	3441.94	.	AC=11,2;AF=0.393,0.071;AN=28;BaseQRankSum=0.590;DP=9622;ExcessHet=13.8672;FS=0.000;InbreedingCoeff=-0.5837;MLEAC=14,3;MLEAF=0.500,0.107;MQ=56.12;MQRankSum=-2.654e+00;QD=0.82;ReadPosRankSum=0.675;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:236,152,0:388:99:.:.:3649,0,9299,4853,8536,14320	1	0	11	7
chr11	1096181	1096181	C	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	514	824	9	0	175	184	0.0054315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0051	0.0024	0.0025	0.0031	0.0023	0.0023	0.0022	0.0022	0.0004	0.0017	0.0035	0	0.0156	0.0031	0.0023	0.0036	0.0004	0.0006	0.0013	0.0007	0.0006	0.0010	0.0005	0.0005	0.0008	0.0007	5.841e-05	0	0.0007	0.0008	0	0.0011	0	0.0010	0.0012	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4643	3441.94	473	chr11	1096181	.	C	*,G	3441.94	.	AC=11,2;AF=0.393,0.071;AN=28;BaseQRankSum=0.590;DP=9622;ExcessHet=13.8672;FS=0.000;InbreedingCoeff=-0.5837;MLEAC=14,3;MLEAF=0.500,0.107;MQ=56.12;MQRankSum=-2.654e+00;QD=0.82;ReadPosRankSum=0.675;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:236,152,0:388:99:.:.:3649,0,9299,4853,8536,14320	1	0	11	7
chr11	1096211	1096211	A	0	exonic	MUC2	.	.	.	.	.	606	732	15	0	169	184	0.010142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3281.3	481	chr11	1096211	.	A	*,C	3281.3	.	AC=11,2;AF=0.423,0.077;AN=26;BaseQRankSum=0.723;DP=9206;ExcessHet=15.1749;FS=0.000;InbreedingCoeff=-0.6204;MLEAC=15,3;MLEAF=0.577,0.115;MQ=57.49;MQRankSum=-5.247e+00;QD=0.68;ReadPosRankSum=2.33;SOR=0.677	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:265,152,0:418:99:0|1:1096178_ACC_A:5416,0,10282,6242,11413,19790:1096178	0	0	11	8
chr11	1096212	1096212	C	0	exonic	MUC2	.	.	.	.	.	603	738	12	0	169	181	0.00806452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3283.99	481	chr11	1096212	.	C	*,T	3283.99	.	AC=8,2;AF=0.400,0.100;AN=20;BaseQRankSum=1.36;DP=8921;ExcessHet=7.5380;FS=0.539;InbreedingCoeff=-0.5140;MLEAC=12,3;MLEAF=0.600,0.150;MQ=56.42;MQRankSum=-3.744e+00;QD=0.91;ReadPosRankSum=4.45;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:265,152,0:418:99:0|1:1096178_ACC_A:5416,0,10282,6242,11413,19790:1096178	0	0	8	11
chr11	1096212	1096212	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	603	738	12	0	169	181	0.00806452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1400696229	0.0042	0.0094	0.0040	0.0044	0.0105	0.0040	0.0039	0.0063	0.0057	0.0078	0.0031	0.0092	0.0039	0.0418	0.0105	0.0037	0.0060	0.0014	0.0038	0.0063	0.0033	0.0042	0.0040	0.0032	0.0030	0.0032	0.0029	0.0039	0	0.0038	0.0018	0.0024	0.0035	0	0.0040	0.0049	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	3283.99	481	chr11	1096212	.	C	*,T	3283.99	.	AC=8,2;AF=0.400,0.100;AN=20;BaseQRankSum=1.36;DP=8921;ExcessHet=7.5380;FS=0.539;InbreedingCoeff=-0.5140;MLEAC=12,3;MLEAF=0.600,0.150;MQ=56.42;MQRankSum=-3.744e+00;QD=0.91;ReadPosRankSum=4.45;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:265,152,0:418:99:0|1:1096178_ACC_A:5416,0,10282,6242,11413,19790:1096178	0	0	8	11
chr11	1096664	1096664	T	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	61688.6	93	chr11	1096664	.	T	C,*	61688.6	.	AC=40,2;AF=0.952,0.048;AN=42;DP=2147;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,2;MLEAF=0.952,0.048;MQ=53.76;QD=30.39;SOR=1.458	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,193,0:193:99:.:.:4611,472,0,4835,483,5397	0	19	0	0
chr11	1097805	1097805	C	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	683	827	12	0	0	12	0.00720288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.083e-05	0.0006	4.152e-05	2.074e-05	9.699e-05	2.144e-05	1.822e-05	2.385e-05	1.288e-05	9.699e-05	9e-05	9.62e-05	6.337e-05	0	0	2.691e-05	0	1.488e-05	4.208e-05	0.0002	4.311e-05	4.11e-05	0.0002	6.98e-06	2.61e-06	3.316e-05	1.363e-05	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1389	610.1	129	chr11	1097805	.	C	A,T	610.1	.	AC=4,1;AF=0.111,0.028;AN=36;BaseQRankSum=-3.609e+00;DP=2223;ExcessHet=1.1607;FS=29.852;InbreedingCoeff=-0.1831;MLEAC=4,1;MLEAF=0.111,0.028;MQ=35.19;MQRankSum=-9.600e-02;QD=1.08;ReadPosRankSum=-6.300e-01;SOR=4.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,12,0:138:99:0|1:1097750_G_A:139,0,4330,498,4367,4865:1097750	13	0	4	3
chr11	1097805	1097805	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.542e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1389	610.1	129	chr11	1097805	.	C	A,T	610.1	.	AC=4,1;AF=0.111,0.028;AN=36;BaseQRankSum=-3.609e+00;DP=2223;ExcessHet=1.1607;FS=29.852;InbreedingCoeff=-0.1831;MLEAC=4,1;MLEAF=0.111,0.028;MQ=35.19;MQRankSum=-9.600e-02;QD=1.08;ReadPosRankSum=-6.300e-01;SOR=4.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,12,0:138:99:0|1:1097750_G_A:139,0,4330,498,4367,4865:1097750	13	0	4	3
chr11	1098224	1098224	C	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.386e-05	.	0	.	0	0	.	.	.	.	.	.	.	.	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	86.27	4	chr11	1098224	.	C	A	86.27	.	AC=2;AF=0.500;AN=4;DP=4;ExcessHet=0.0000;FS=0.000;MLEAC=5;MLEAF=1.00;MQ=31.95;QD=31.31;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:1098211_GA_G:81,6,0:1098211	1	1	0	19
chr11	1098518	1098518	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	658	861	3	0	0	3	0.00173913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1315730742	0.0008	0.0016	0.0008	0.0008	0.0040	0.0008	0.0007	0.0032	0.0030	0.0014	0.0004	0.0012	0.0040	0.0019	0.0003	0.0007	0.0011	0.0004	0.0007	0.0012	0.0006	0.0007	0.0050	0.0004	0.0003	0.0005	0.0004	0.0004	0	0	0	0	0	0	0.0012	0	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.125	2125.72	120	chr11	1098518	.	C	T	2125.72	.	AC=4;AF=0.125;AN=32;BaseQRankSum=-1.266e+00;DP=3397;ExcessHet=0.6776;FS=8.269;InbreedingCoeff=-0.1833;MLEAC=5;MLEAF=0.156;MQ=45.75;MQRankSum=1.12;QD=3.03;ReadPosRankSum=-3.120e+00;SOR=0.997	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,37:124:99:0|1:1098518_C_T:858,0,3319:1098518	12	0	4	5
chr11	1098538	1098538	T	C	exonic	MUC2	.	unknown	UNKNOWN,	.	.	674	844	4	0	0	4	0.00236407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169334096	0.0032	0.0055	0.0033	0.0031	0.0031	0.0031	0.0030	0.0030	0.0029	0.0010	0.0019	0.0052	0.0011	0.0223	0.0025	0.0031	0.0044	0.0012	0.0150	0.0054	0.0122	0.0179	0.0232	0.0120	0.0110	0.0178	0.0159	0.0027	0	0.0049	0.0104	0.0053	0.0249	0.1000	0.0232	0.0323	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2083	2025.55	120	chr11	1098538	.	T	C	2025.55	.	AC=5;AF=0.208;AN=24;BaseQRankSum=2.06;DP=3920;ExcessHet=1.1607;FS=0.000;InbreedingCoeff=-0.2947;MLEAC=7;MLEAF=0.292;MQ=45.13;MQRankSum=-5.024e+00;QD=2.34;ReadPosRankSum=-1.951e+00;SOR=0.571	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,21:114:99:0|1:1098518_C_T:541,0,3787:1098518	7	0	5	9
chr11	1098544	1098544	C	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	658	862	2	0	0	2	0.00115875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1448886114	7.358e-05	0.0003	6.518e-05	8.21e-05	0.0008	6.06e-05	5.573e-05	0.0005	0.0004	8.331e-05	9.522e-05	4.776e-05	0.0008	0.0002	0.0002	5.216e-05	0.0002	0	0	9.614e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	776.3	120	chr11	1098544	.	C	A	776.3	.	AC=4;AF=0.100;AN=40;BaseQRankSum=1.96;DP=3953;ExcessHet=0.6776;FS=10.427;InbreedingCoeff=-0.1200;MLEAC=4;MLEAF=0.100;MQ=45.11;MQRankSum=-4.687e+00;QD=1.17;ReadPosRankSum=-1.717e+00;SOR=1.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,14:109:99:0|1:1098518_C_T:302,0,3888:1098518	16	0	4	1
chr11	1098548	1098548	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	658	860	4	0	0	4	0.00232019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1371567749	0.0016	0.0017	0.0017	0.0015	0.0531	0.0015	0.0015	0.0504	0.0493	0.0531	0.0022	0.0001	0.0015	0.0006	0.0033	0.0002	0.0039	0.0001	0.0048	0.0059	0.0048	0.0048	0.0239	0.0040	0.0037	0.0198	0.0183	0.0239	0	0.0014	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1053	678.77	120	chr11	1098548	.	C	T	678.77	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.80;DP=3975;ExcessHet=0.6776;FS=8.640;InbreedingCoeff=-0.1351;MLEAC=4;MLEAF=0.105;MQ=44.89;MQRankSum=-4.819e+00;QD=1.05;ReadPosRankSum=-7.590e-01;SOR=1.554	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,14:110:99:0|1:1098518_C_T:299,0,3884:1098518	15	0	4	2
chr11	1099370	1099370	G	0	exonic	MUC2	.	.	.	.	.	923	13	249	324	13	910	0.971831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8571	99733.73	157	chr11	1099370	.	G	A,*	99733.73	.	AC=36,6;AF=0.857,0.143;AN=42;BaseQRankSum=2.61;DP=6688;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=36,6;MLEAF=0.857,0.143;MQ=54.00;MQRankSum=1.34;QD=23.82;ReadPosRankSum=0.267;SOR=0.336	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:2,224,0:226:99:.:.:6412,654,0,5368,665,5850	0	15	0	0
chr11	1630364	1630368	AGTCC	0	exonic	KRTAP5-5	.	.	.	.	.	439	687	51	4	341	400	0.0411724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	5209.38	39	chr11	1630364	.	AGTCC	*,A	5209.38	.	AC=9,2;AF=0.214,0.048;AN=42;BaseQRankSum=0.573;DP=3134;ExcessHet=2.2868;FS=0.532;InbreedingCoeff=-0.1085;MLEAC=9,2;MLEAF=0.214,0.048;MQ=57.01;MQRankSum=-2.192e+00;QD=2.91;ReadPosRankSum=-1.810e-01;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:141,75,0:216:99:.:.:1588,0,4850,2008,5074,7082	11	0	8	0
chr11	1630369	1630395	AGCTGCTGTAAGCCTTACTGCTGCCAG	0	exonic	KRTAP5-5	.	.	.	.	.	437	689	51	4	341	400	0.0410578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	5142.38	39	chr11	1630369	.	AGCTGCTGTAAGCCTTACTGCTGCCAG	*,A	5142.38	.	AC=9,2;AF=0.214,0.048;AN=42;BaseQRankSum=1.23;DP=3144;ExcessHet=2.2868;FS=0.532;InbreedingCoeff=-0.1085;MLEAC=9,2;MLEAF=0.214,0.048;MQ=57.16;MQRankSum=-2.192e+00;QD=2.88;ReadPosRankSum=-3.820e-01;SOR=0.802	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:141,75,0:216:99:.:.:1588,0,4850,2008,5074,7082	11	0	8	0
chr11	1630383	1630413	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	0	exonic	KRTAP5-5	.	.	.	.	.	532	195	381	185	229	980	0.658195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	48108.27	39	chr11	1630383	.	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	T,*	48108.27	.	AC=16,11;AF=0.381,0.262;AN=42;BaseQRankSum=-2.940e-01;DP=3975;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=16,11;MLEAF=0.381,0.262;MQ=58.70;MQRankSum=-5.308e+00;QD=15.77;ReadPosRankSum=0.914;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,106,75:181:99:.:.:6682,2095,2603,3595,0,4413	3	3	5	0
chr11	4488904	4488904	C	T	exonic	OR52K1	.	nonsynonymous SNV	OR52K1:NM_001005171:exon2:c.C4T:p.L2F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.052	B	0.033	B	0.833	N	1.000	N	0.915	L	1.16	T	-0.999	T	0.037	T	0.164	-0.591	1.351	-8.76	-1.815	-4.083	0.705	0.045	0.0148460034166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.266e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.773	0.03354	T	0.779	0.04344	T	0.052	0.22494	B	0.033	0.22329	B	0.833192	0.06954	N	1.116690	0.999999	0.08975	N	0.635	0.15989	N	1.16	0.38073	T	-0.76	0.21215	N	0.071	0.04426	-0.9991	0.30171	T	0.037	0.15899	T	10	0.047613025	0.04102	T	0.014846	0.35231	T	0.045	0.12272	0.215	0.13498	0.0611884634855	0.05136	0.14371815121218293	0.14294	.	.	0.283620834351	0.08002	T	0.001751	0.01176	T	-0.288412	0.09796	T	-0.652061	0.08811	T	0.0666449882505786	0.08172	T	0.332567	0.07018	T	0.040492512	0.05791	0.03574162	0.02884	0.040492512	0.05790	0.03574162	0.02883	-4.337	0.28692	T	.	.	0.059	0.01059	B	.;.	.;.	-1.592832	0.00244	0.004	0.20019671462553745	0.00702	0.00621	0.02743	N	AEFBI	0.023867	0.01392	N	-1.71552709541866	0.00788	0.03404736	-1.84543066948755	0.00624	0.02775362	0.999441884986545	0.39736	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.38	-8.76	0.00718	-4.492000	0.00259	.	.	-0.811000	0.03066	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4067:0.2121:0.1944:0.1868	0.705	0.00856	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2	605.95	69	chr11	4488904	.	C	G,T	605.95	.	AC=5,3;AF=0.125,0.075;AN=40;BaseQRankSum=-2.135e+00;DP=2224;ExcessHet=3.5521;FS=176.401;InbreedingCoeff=-0.2568;MLEAC=5,3;MLEAF=0.125,0.075;MQ=60.00;MQRankSum=0.00;QD=0.71;ReadPosRankSum=0.714;SOR=12.957	GT:AD:DP:GQ:PL	0/1:40,26,13:79:91:114,0,498,91,435,622	12	0	5	1
chr11	5351792	5351792	C	G	exonic	OR51B6	.	nonsynonymous SNV	OR51B6:NM_001004750:exon1:c.C285G:p.C95W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.72	H	6.65	T	-1.162	T	0.013	T	0.859	0.989	9.038	2.16	0.307	0.075	8.371	0.313	0.0559336047313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0093	0.0026	0.0022	0.0029	0.0023	0.0023	0.0028	0.0028	0.0027	6.717e-05	0.0009	0.0002	1.873e-05	0.0012	0.0029	0.0019	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000016	0.62929	D	0.000000	1	0.81001	D	4.81	0.99662	H	6.65	0.00510	T	-10.89	0.99244	D	0.807	0.80278	-1.1620	0.00709	T	0.013	0.05033	T	10	0.9621227	0.95635	D	0.055934	0.66418	D	0.313	0.63482	0.748	0.87905	0.527045900269	0.52351	0.471107557204946	0.47029	0.0116871865332	0.01096	0.339552879333	0.16371	T	0.119847	0.44167	T	0.113068	0.65668	D	-0.0753619	0.65240	T	0.99993371963501	0.99782	D	0.909809	0.68064	D	0.97552437	0.98751	0.92103964	0.96471	0.97552437	0.98751	0.92103964	0.96472	-8.765	0.66172	D	.	.	0.343	0.56118	A	.	.	2.116618	0.26937	17.29	0.98967027029080845	0.49442	0.39672	0.26265	N	AEFBI	0.767818	0.70356	D	0.108662788856825	0.46867	2.920579	-0.159160573312792	0.33057	1.887009	0.0102554648337644	0.11993	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.01	2.16	0.26663	-0.170000	0.09886	.	.	-1.712000	0.00741	0.001000	0.13787	0.000000	0.08366	0.014000	0.10232	0.0:0.6705:0.0:0.3295	8.371	0.31576	861	0.33516	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3438	1921.6	129	chr11	5351792	.	C	G	1921.6	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-4.528e+00;DP=3508;ExcessHet=7.7275;FS=256.706;InbreedingCoeff=-0.4658;MLEAC=13;MLEAF=0.406;MQ=60.00;MQRankSum=0.00;QD=1.01;ReadPosRankSum=0.281;SOR=11.086	GT:AD:DP:GQ:PL	0/1:139,32:171:99:363,0,4656	5	0	11	5
chr11	6200107	6200107	C	G	exonic	OR52W1	.	nonsynonymous SNV	OR52W1:NM_001005178:exon1:c.C884G:p.P295R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.977	D	0.689	P	0.034	N	0.570	D	4.255	H	-0.08	T	0.418	D	0.499	T	0.685	1.906	12.33	3.23	0.271	3.583	13.827	0.400	0.0539634185351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0021	0.0008	0.0006	0.0008	0.0006	0.0006	0.0008	0.0008	0.0007	2.238e-05	0.0002	0.0002	1.93e-05	0.0005	0.0008	0.0004	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.977	0.58535	D	0.689	0.53736	P	0.034271	0.24791	N	0.198413	0.569916	0.32285	D	5.07	0.99906	H	-0.08	0.63911	T	-8.12	0.96707	D	0.8	0.79599	0.418	0.89363	D	0.499	0.81057	T	10	0.9466181	0.93989	D	0.053963	0.65674	D	0.400	0.71401	0.737	0.86978	0.756562400578	0.75435	0.47455396514490583	0.47374	0.062343724922	0.06938	0.315678536892	0.12767	T	0.146888	0.48470	T	0.167539	0.70898	D	0.00288233	0.70523	D	0.995080590248108	0.86803	D	0.934707	0.75503	D	0.9610508	0.97386	0.9567188	0.98791	0.9610508	0.97386	0.9567188	0.98791	-12.124	0.85450	D	.	.	0.505	0.64808	A	.	.	2.707812	0.35383	19.88	0.97301537367121227	0.33280	0.95966	0.66930	D	AEFBI	0.511260	0.53997	D	0.208503100090119	0.51610	3.340933	0.082639564659092	0.43676	2.664457	0.99944430790802	0.39736	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.11	3.23	0.36150	4.053000	0.57139	3.151000	0.36525	-0.172000	0.11096	0.999000	0.42656	0.986000	0.30841	0.667000	0.33166	0.0:0.8582:0.0:0.1418	13.827	0.62847	665	0.61472	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	1980.01	154	chr11	6200107	.	C	G	1980.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-6.829e+00;DP=2478;ExcessHet=4.7172;FS=120.687;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.23;ReadPosRankSum=1.61;SOR=11.011	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:147,23:174:99:.:.:349,0,5576	12	0	9	0
chr11	6200109	6200109	C	G	exonic	OR52W1	.	nonsynonymous SNV	OR52W1:NM_001005178:exon1:c.C886G:p.L296V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.911	P	0.158	B	0.004	N	0.906	D	1.675	L	1.07	T	-0.977	T	0.081	T	0.099	1.942	12.45	5.11	2.518	-0.072	13.517	0.088	0.0114858743224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.13879	T	0.419	0.14158	T	0.911	0.50336	P	0.158	0.34617	B	0.003626	0.34687	N	0.000000	0.905535	0.36277	D	0.41	0.12415	N	1.07	0.39586	T	0.43	0.03297	N	0.052	0.02366	-0.9765	0.35794	T	0.081	0.32090	T	10	0.1060805	0.19639	T	0.011486	0.29167	T	0.088	0.25558	0.397	0.42426	0.207176502487	0.20327	0.04900367529630378	0.04843	0.0233216950399	0.02366	0.204009205103	0.00582	T	5.16E-4	0.00194	T	-0.253739	0.13642	T	-0.602255	0.12622	T	0.502938449382782	0.32737	D	0.70483	0.31518	T	0.12892555	0.30127	0.11809379	0.28508	0.12892555	0.30127	0.11809379	0.28508	-3.839	0.21388	T	.	.	0.096	0.15385	B	.	.	2.102681	0.26757	17.23	0.99468787433388461	0.66207	0.36052	0.25444	N	AEFBI	0.406343	0.47887	N	-0.0291148856449301	0.40540	2.409298	-0.00557001676917808	0.39462	2.340232	0.999715313907442	0.42101	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.11	5.11	0.69188	-0.358000	0.07692	0.729000	0.21072	0.599000	0.40250	0.000000	0.06391	0.185000	0.23452	0.633000	0.32236	0.1663:0.8337:0.0:0.0	13.517	0.61000	665	0.61472	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	2170.01	155	chr11	6200109	.	C	G	2170.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-6.569e+00;DP=2452;ExcessHet=4.7172;FS=131.986;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.32;ReadPosRankSum=1.54;SOR=11.175	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:147,30:180:99:.:.:361,0,5588	12	0	9	0
chr11	6390705	6390711	TGCTGGC	0	exonic	SMPD1	.	.	.	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	55208.52	52	chr11	6390705	.	TGCTGGC	CGCTGGC,T,*,TGGCGCTGGC,TGGCGCTGGCGCTGGC	55208.52	.	AC=23,14,2,2,1;AF=0.548,0.333,0.048,0.048,0.024;AN=42;BaseQRankSum=2.04;DP=2079;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=23,14,2,2,1;MLEAF=0.548,0.333,0.048,0.048,0.024;MQ=59.99;MQRankSum=0.00;QD=32.84;ReadPosRankSum=1.69;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,92,0,0,0,0:92:99:.:.:2786,274,0,2786,274,2786,2786,274,2786,2786,2786,274,2786,2786,2786,2786,274,2786,2786,2786,2786	0	5	0	0
chr11	6390705	6390705	-	GGC	exonic	SMPD1	.	nonframeshift insertion	SMPD1:NM_000543:exon1:c.107_108insGGC:p.V36_L37insA	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	66	5	343	388	720	1839	0.991143	.	.	526543	not_specified|not_provided|Niemann-Pick_disease,_type_B|Niemann-Pick_disease,_type_A	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011871,MedGen:C0268243,OMIM:607616,Orphanet:77293|MONDO:MONDO:0009756,MedGen:C0268242,OMIM:257200,Orphanet:77292	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0063	0.0019	0.0048	0.0047	0.0086	0.0021	0.0111	0.0252	0.0046895	725	154602	rs775568984	0.0048	0.0048	0.0041	0.0055	0.0294	0.0047	0.0046	0.0284	0.0280	0.0030	0.0070	0.0053	0.0069	0.0151	0.0054	0.0022	0.0059	0.0294	0.0053	0.0052	0.0042	0.0063	0.0345	0.0050	0.0048	0.0301	0.0284	0.0029	0	0.0061	0.0041	0.0086	0.0179	0.0221	0.0024	0.0015	0.0345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	55208.52	52	chr11	6390705	.	TGCTGGC	CGCTGGC,T,*,TGGCGCTGGC,TGGCGCTGGCGCTGGC	55208.52	.	AC=23,14,2,2,1;AF=0.548,0.333,0.048,0.048,0.024;AN=42;BaseQRankSum=2.04;DP=2079;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=23,14,2,2,1;MLEAF=0.548,0.333,0.048,0.048,0.024;MQ=59.99;MQRankSum=0.00;QD=32.84;ReadPosRankSum=1.69;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,92,0,0,0,0:92:99:.:.:2786,274,0,2786,274,2786,2786,274,2786,2786,2786,274,2786,2786,2786,2786,274,2786,2786,2786,2786	0	5	0	0
chr11	6564079	6564079	G	C	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon31:c.G10239C:p.K3413N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.922	P	0.583	P	.	.	1.000	N	0.895	L	-0.82	T	-0.736	T	0.305	T	0.179	1.460	10.83	4.27	2.202	2.147	12.045	0.246	0.037918526582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.17940	T	0.0	0.92824	D	0.922	0.51142	P	0.583	0.50264	P	.	.	.	.	0.966659	0.25884	N	2.015	0.55033	M	-0.82	0.74053	T	-1.07	0.27876	N	0.325	0.41162	-0.7361	0.58653	T	0.305	0.67547	T	9	0.36649692	0.53143	T	0.037919	0.57909	D	0.246	0.55340	0.518	0.61915	0.707650254962	0.70510	0.38322019556356207	0.38237	0.532401565123	0.50703	0.379581391811	0.22198	T	0.064	0.32320	T	-0.08036	0.39657	T	-0.353208	0.38837	T	0.574073241482542	0.35391	D	0.510949	0.16331	T	0.27499932	0.50564	0.25137228	0.50747	0.27499932	0.50564	0.25137228	0.50746	-4.843	0.35088	T	.	.	0.412	0.60243	A	.;.	.;.	2.357286	0.30230	18.37	0.98888292569358716	0.47948	0.86877	0.46256	D	AEFDBI	0.133163	0.25273	N	0.0924144595753655	0.46109	2.856479	0.0938492095698804	0.44239	2.709482	0.999997307219467	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.27	4.27	0.50009	2.194000	0.42301	0.078000	0.14353	0.618000	0.50648	0.991000	0.37257	0.003000	0.18671	0.944000	0.48669	0.0:0.0:1.0:0.0	12.045	0.52771	425	0.81160	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2941	723.45	41	chr11	6564079	.	G	C	723.45	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-2.656e+00;DP=1725;ExcessHet=6.1002;FS=193.467;InbreedingCoeff=-0.4201;MLEAC=12;MLEAF=0.353;MQ=60.00;MQRankSum=0.00;QD=0.93;ReadPosRankSum=1.74;SOR=11.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:65,28:108:99:.:.:123,0,1100	7	0	10	4
chr11	8640492	8640492	G	A	exonic	TRIM66	.	nonsynonymous SNV	TRIM66:NM_014818:exon9:c.C1448T:p.P483L,	.	.	442	1057	22	1	0	24	0.0112254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.067	B	0.018	B	0.001	D	0.996	D	2.075	M	2.4	T	-1.074	T	0.052	T	0.299	2.228	13.41	4.14	2.151	0.000	14.764	0.077	0.0122945728011	.	0.000599042	0.0021	0.0017	0.0030	0	0	0.0041	0.0044	0.0006	0.0005627	87	154602	rs200180407	0.0016	0.0015	0.0015	0.0016	0.0244	0.0015	0.0015	0.0209	0.0196	0.0010	0.0056	0.0130	2.846e-05	6.199e-05	0.0244	0.0010	0.0043	0.0013	0.0019	0.0019	0.0018	0.0019	0.0047	0.0017	0.0016	0.0038	0.0035	0.0005	0	0.0047	0.0150	0	0	0.0387	0.0016	0.0078	0.0007	0.0	0.91255	D	0.004	0.74150	D	0.067	0.23653	B	0.018	0.18489	B	0.000525	0.43581	D	0.000000	0.996231	0.43090	D	1.1	0.28011	L	2.4	0.15608	T	-1.61	0.38734	N	0.287	0.37197	-1.0743	0.08493	T	0.052	0.22192	T	10	0.007167518	0.00163	T	0.012295	0.30730	T	0.077	0.22490	.	.	0.40528724903	0.40140	0.19159180296249653	0.19077	.	.	0.625356137753	0.56486	T	0.005053	0.04483	T	-0.497353	0.00592	T	-0.485823	0.23831	T	0.0608751208973345	0.07305	T	0.59564	0.22695	T	0.17800525	0.38797	0.34425545	0.60125	0.17800525	0.38797	0.34425545	0.60125	-4.563	0.31703	T	.	.	0.101	0.25689	B	.;.;.	.;.;.	3.088275	0.41569	21.4	0.94994902572322137	0.25950	0.95810	0.66250	D	AEFDBI	0.154279	0.27928	N	-0.0227403274774952	0.40828	2.431368	0.0716012061328867	0.43128	2.621004	0.999993948386023	0.74766	0.608966	0.35542	0	0.653731	0.59785	0	0.769059	0.98459	0	0.727631	0.95156	0	.	.	4.14	4.14	0.47821	2.996000	0.49137	6.801000	0.56627	0.616000	0.49467	0.995000	0.38783	1.000000	0.68203	0.737000	0.35335	0.0:0.0:1.0:0.0	14.764	0.69247	363	0.84772	.;.;.	.	.	.	.	.	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	0.04762	1604.11	33	chr11	8640492	.	G	A	1604.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.41;DP=795;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.73;ReadPosRankSum=1.53;SOR=0.693	GT:AD:DP:GQ:PL	0/1:30,30:60:99:936,0,885	19	0	2	0
chr11	12294806	12294806	-	CTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTC:p.P470_T471insP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/5:0,0,0,0,0,50,0:76:42:.:.:2045,2065,2160,2065,2160,2160,2065,2160,2160,2160,2065,2160,2160,2160,2160,0,109,109,109,109,42,2065,2160,2160,2160,2160,109,2160	6	0	4	0
chr11	12294806	12294806	-	CTCCTCCTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTCCTCCTC:p.P470_T471insPPP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/5:0,0,0,0,0,50,0:76:42:.:.:2045,2065,2160,2065,2160,2160,2065,2160,2160,2160,2065,2160,2160,2160,2160,0,109,109,109,109,42,2065,2160,2160,2160,2160,109,2160	6	0	4	0
chr11	12294806	12294806	-	CTCCTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTCCTC:p.P470_T471insPP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/5:0,0,0,0,0,50,0:76:42:.:.:2045,2065,2160,2065,2160,2160,2065,2160,2160,2160,2065,2160,2160,2160,2160,0,109,109,109,109,42,2065,2160,2160,2160,2160,109,2160	6	0	4	0
chr11	12294806	12294806	-	CTCCTCCTCCTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTCCTCCTCCTC:p.P470_T471insPPPP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/5:0,0,0,0,0,50,0:76:42:.:.:2045,2065,2160,2065,2160,2160,2065,2160,2160,2160,2065,2160,2160,2160,2160,0,109,109,109,109,42,2065,2160,2160,2160,2160,109,2160	6	0	4	0
chr11	12294798	12294806	CTCCTCCTC	-	exonic	MICALCL	.	nonframeshift deletion	MICALCL:NM_032867:exon3:c.1367_1375del:p.P468_P470del,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0140	.	0.0027	0.0050	0.0026	0.0015	0.0007	0.0029	0.0042	0.0020	0.0005379	14	26028	rs761605598	0.0069	0.0073	0.0069	0.0069	0.0141	0.0068	0.0067	0.0130	0.0126	0.0141	0.0080	0.0114	0.0007	0.0005	0.0089	0.0070	0.0088	0.0060	0.0111	0.0096	0.0115	0.0106	0.0238	0.0106	0.0104	0.0222	0.0215	0.0238	0	0.0146	0.0137	0.0013	0.0009	0.0324	0.0073	0.0091	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/5:0,0,0,0,0,50,0:76:42:.:.:2045,2065,2160,2065,2160,2160,2065,2160,2160,2160,2065,2160,2160,2160,2160,0,109,109,109,109,42,2065,2160,2160,2160,2160,109,2160	6	0	4	0
chr11	12294801	12294806	CTCCTC	-	exonic	MICALCL	.	nonframeshift deletion	MICALCL:NM_032867:exon3:c.1370_1375del:p.P469_P470del,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/5:0,0,0,0,0,50,0:76:42:.:.:2045,2065,2160,2065,2160,2160,2065,2160,2160,2160,2065,2160,2160,2160,2160,0,109,109,109,109,42,2065,2160,2160,2160,2160,109,2160	6	0	4	0
chr11	20092320	20092320	A	G	exonic	NAV2	.	nonsynonymous SNV	NAV2:NM_001111019:exon18:c.A2959G:p.M987V	.	.	419	1091	11	1	0	13	0.00592255	.	.	3192262	NAV2-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0	B	0.001	B	0.712	N	1.000	N	1.01	L	3.39	T	-1.069	T	0.021	T	0.08	0.785	8.142	-12.3	-2.258	-0.282	8.329	0.055	.	0.0005	0.00259585	0.0021	0.0003	0.0018	0	0	0.0006	0.0011	0.0118	0.0018823	291	154602	rs140693573	0.0011	0.0011	0.0008	0.0014	0.0114	0.0011	0.0010	0.0109	0.0106	0.0002	0.0013	0.0020	0	0	0.0062	0.0003	0.0015	0.0114	0.0007	0.0007	0.0007	0.0008	0.0104	0.0006	0.0006	0.0081	0.0073	0.0001	0	0.0009	0.0009	0.0002	9.418e-05	0.0034	0.0005	0.0019	0.0104	0.292	0.18434	T	0.277	0.22561	T	0.0	0.02946	B	0.0	0.04355	B	0.711572	0.10009	N	0.878099	0.999999	0.08975	N	0.845	0.21182	L	1.77	0.25841	T	-0.63	0.24026	N	0.219	0.25130	-1.0693	0.09567	T	0.021	0.08732	T	9	0.0035722852	0.00065	T	.	.	.	0.055	0.15663	.	.	0.23524818089	0.23142	0.18010943180078337	0.17929	0.41494507042	0.42158	0.299527615309	0.10331	T	0.011155	0.36026	T	-0.671016	0.00054	T	-0.726257	0.04500	T	0.0108014514994385	0.00153	T	0.824517	0.48627	T	0.042037062	0.06301	0.06588853	0.13417	0.042037062	0.06301	0.06588853	0.13417	-4.548	0.31512	T	.	.	0.053	0.01491	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.009564	0.04347	1.111	0.59728580425167499	0.06293	0.07059	0.13085	N	AEFBI	0.072710	0.14519	N	-1.43625411616667	0.02327	0.1026254	-1.52721831279669	0.02137	0.09782311	0.999999999994081	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.17	-12.3	0.00001	-0.274000	0.08569	-1.440000	0.05434	-0.083000	0.16234	0.000000	0.06391	0.000000	0.08366	0.990000	0.65344	0.2238:0.5122:0.0534:0.2106	8.329	0.31336	875	0.30485	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	647.98	34	chr11	20092320	.	A	G	647.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.115;DP=754;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.29;ReadPosRankSum=-2.000e+00;SOR=0.760	GT:AD:DP:GQ:PL	0/1:34,29:63:99:662,0,812	20	0	1	0
chr11	22274729	22274729	G	A	exonic	ANO5	.	nonsynonymous SNV	ANO5:NM_001142649:exon20:c.G2393A:p.R798Q	Gnathodiaphyseal dysplasia, Autosomal dominant;Miyoshi muscular dystrophy 3, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2L, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	461086	Inborn_genetic_diseases|Gnathodiaphyseal_dysplasia|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2L	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008151,MedGen:C1833736,OMIM:166260,Orphanet:53697|MONDO:MONDO:0012652,MedGen:C1969785,OMIM:611307,Orphanet:206549	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.59	T	0.938	P	0.131	B	0.154	N	1.000	N	0.55	N	-0.5	T	-0.928	T	0.124	T	0.139	-0.774	0.748	0.182	0.135	0.033	1.552	0.131	0.0227656898248	.	.	8.264e-06	9.649e-05	0	0	0	0	0	0	1.94e-05	3	154602	rs747460085	4.106e-05	4.104e-05	3.268e-05	4.952e-05	0.0002	3.246e-05	2.921e-05	3.978e-05	3.575e-05	0	0	0	2.521e-05	0	0.0002	5.038e-05	3.313e-05	0	2.632e-05	2.627e-05	2.573e-05	2.694e-05	5.891e-05	8.15e-06	5.15e-06	1.975e-05	1.126e-05	0	0	0	0	0	0	0	5.891e-05	0	0	0.535	0.06913	T	0.59	0.08217	T	0.938	0.52538	P	0.131	0.32951	B	0.153610	0.02982	N	1.596500	1	0.08975	N	0.805	0.20218	L	-0.5	0.70480	T	-0.64	0.18670	N	0.267	0.30233	-0.9279	0.44444	T	0.124	0.42862	T	10	0.101085186	0.18447	T	0.022766	0.45688	T	0.131	0.35738	.	.	0.45882554386	0.45509	0.5963549917094241	0.59565	0.110288334965	0.12446	0.255113482475	0.04326	T	0.032613	0.22561	T	-0.303462	0.08337	T	-0.49215	0.23166	T	0.0395653803803227	0.03612	T	0.551245	0.19007	T	0.020014394	0.00547	0.018357502	0.00053	0.020014394	0.00546	0.018357502	0.00053	-2.893	0.09074	T	0.13896877285103246	0.15423	0.088	0.11893	B	.	.	1.643790	0.20977	15.00	0.67268871331594038	0.08304	0.06689	0.12709	N	AEFI	0.139022	0.26049	N	-1.08884514929533	0.06848	0.3164036	-1.15788344281133	0.06627	0.3196441	9.34487207682068E-5	0.04910	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.24	0.182	0.14361	0.200000	0.17055	1.784000	0.28742	-0.759000	0.03520	0.012000	0.18695	0.043000	0.21642	0.069000	0.16583	0.3537:0.1322:0.379:0.1351	1.552	0.02421	758	0.50837	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1118.98	44	chr11	22274729	.	G	A	1118.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.301;DP=937;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.56;ReadPosRankSum=-1.860e-01;SOR=0.748	GT:AD:DP:GQ:PL	0/1:69,48:117:99:1133,0,1834	20	0	1	0
chr11	31789914	31789915	TT	-	exonic	PAX6	.	frameshift deletion	PAX6:NM_001368929:exon9:c.729_730del:p.K244Gfs*7	Aniridia, Autosomal dominant;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy, Autosomal dominant;Foveal hypoplasia 1, Autosomal dominant;Keratitis, Autosomal dominant;Optic nerve hypoplasia, Autosomal dominant	.	5	30	45	6	140	197	0.487179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8623.07	44	chr11	31789912	.	CTTT	C,CT,CTT	8623.07	.	AC=4,9,18;AF=0.095,0.214,0.429;AN=42;BaseQRankSum=0.737;DP=1820;ExcessHet=7.7275;FS=2.324;InbreedingCoeff=-0.3548;MLEAC=4,9,18;MLEAF=0.095,0.214,0.429;MQ=59.99;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.919;SOR=0.976	GT:AD:DP:GQ:PL	0/2:14,8,14,14:50:26:458,172,773,0,333,334,106,136,26,241	0	0	0	0
chr11	31789915	31789915	T	-	exonic	PAX6	.	frameshift deletion	PAX6:NM_001368929:exon9:c.729delA:p.K244Rfs*29	Aniridia, Autosomal dominant;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy, Autosomal dominant;Foveal hypoplasia 1, Autosomal dominant;Keratitis, Autosomal dominant;Optic nerve hypoplasia, Autosomal dominant	.	5	30	45	6	140	197	0.487179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8623.07	44	chr11	31789912	.	CTTT	C,CT,CTT	8623.07	.	AC=4,9,18;AF=0.095,0.214,0.429;AN=42;BaseQRankSum=0.737;DP=1820;ExcessHet=7.7275;FS=2.324;InbreedingCoeff=-0.3548;MLEAC=4,9,18;MLEAF=0.095,0.214,0.429;MQ=59.99;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.919;SOR=0.976	GT:AD:DP:GQ:PL	0/2:14,8,14,14:50:26:458,172,773,0,333,334,106,136,26,241	0	0	0	0
chr11	35468075	35468075	G	A	exonic	PAMR1	.	nonsynonymous SNV	PAMR1:NM_001282676:exon4:c.C413T:p.T138M	.	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.395	M	-3.25	D	1.056	D	0.982	D	0.791	4.095	21.1	4.98	1.490	6.998	17.257	0.749	.	.	0.00119808	0.0010	0	0	0.0173	0	0.0003	0	0.0005	0.0003752	58	154602	rs138326425	0.0004	0.0004	0.0003	0.0004	0.0109	0.0004	0.0003	0.0100	0.0097	3.123e-05	2.765e-05	0	0.0109	4.033e-05	0	5.459e-05	0.0004	0.0006	0.0003	0.0003	0.0003	0.0004	0.0054	0.0003	0.0002	0.0038	0.0033	0.0001	0	0	0	0.0054	0	0	0.0001	0	0.0012	0.147	0.24955	T	0.006	0.76473	D	1.0	0.90584	D	0.963	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.86	0.83026	M	-5.91	0.99439	D	-1.22	0.41428	N	0.751	0.76573	1.056	0.98259	D	0.982	0.99434	D	10	0.02669552	0.00830	T	.	.	.	0.749	0.91371	.	.	0.71657031348	0.71408	0.6441289273991889	0.64347	.	.	0.463455617428	0.33784	T	0.261532	0.75198	T	0.0388993	0.56901	T	0.284053	0.87340	D	0.113289618287916	0.13762	T	0.787421	0.42665	T	0.49880695	0.67025	0.2804709	0.54022	0.49880695	0.67026	0.2804709	0.54021	-9.655	0.73461	D	.	.	0.194	0.41495	B	.;.;.;.;.;.	.;.;.;.;.;.	4.447400	0.69110	25.3	0.9992544510219632	0.99042	0.99409	0.95660	D	AEFBI	0.874419	0.79729	D	0.688372642644586	0.78871	6.959516	0.634183957766603	0.77438	6.67939	0.999995925535539	0.74766	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.9	4.98	0.65679	6.084000	0.70984	9.813000	0.81759	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.123000	0.19290	0.0:0.1255:0.8745:0.0	17.257	0.86945	750	0.51762	.;EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2917.98	37	chr11	35468075	.	G	A	2917.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.582;DP=939;ExcessHet=0.0000;FS=1.543;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.01;ReadPosRankSum=-7.480e-01;SOR=0.684	GT:AD:DP:GQ:PL	0/1:122,121:243:99:2932,0,2897	20	0	1	0
chr11	36592939	36592939	C	G	exonic	RAG2	.	nonsynonymous SNV	RAG2:NM_000536:exon2:c.G1230C:p.E410D	Combined cellular and humoral immune defects with granulomas, Autosomal recessive;Omenn syndrome, Autosomal recessive;Severe combined immunodeficiency, B cell-negative, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.989	D	0.977	D	0.000	D	1.000	D	2.725	M	-4.39	D	0.981	D	0.932	D	0.635	2.778	15.25	-0.634	0.034	0.389	10.518	0.724	0.184111845529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	0.989	0.62824	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	0.997921	0.44325	D	3.045	0.86684	M	-4.39	0.97394	D	-1.34	0.33401	N	0.61	0.62696	0.981	0.96875	D	0.932	0.97744	D	10	0.74751085	0.75395	D	0.184112	0.85729	D	0.724	0.90280	0.655	0.79276	0.949606292796	0.94907	0.5783541702396763	0.57764	0.416349650705	0.42283	0.691780388355	0.65962	T	0.535211	0.83987	D	0.262356	0.79746	D	0.13908	0.79483	D	0.982266187667847	0.74389	D	0.935806	0.75965	D	0.4970505	0.66921	0.42633614	0.66414	0.4970505	0.66922	0.42633614	0.66414	-3.527	0.16812	T	0.4996836790850691	0.57511	0.344	0.59611	A	.;.	.;.	2.759110	0.36189	20.2	0.99754016305850435	0.84460	0.84979	0.44077	D	AEFBI	0.598256	0.59172	D	0.347464662238875	0.58605	4.033851	0.215856993075376	0.50725	3.261712	0.99959847292894	0.40745	0.497415	0.19182	0	0.59043	0.45803	0	0.408882	0.06424	0	0.530356	0.10902	0	.	.	5.23	-0.634	0.10937	0.385000	0.20413	-0.476000	0.08948	0.599000	0.40250	0.997000	0.40164	0.036000	0.21445	1.000000	0.97212	0.0:0.5159:0.0:0.4841	10.518	0.44088	374	0.84073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.08333	296.49	93	chr11	36592939	.	C	G	296.49	.	AC=2;AF=0.083;AN=24;BaseQRankSum=-4.408e+00;DP=2340;ExcessHet=0.1072;FS=326.387;InbreedingCoeff=-0.2035;MLEAC=3;MLEAF=0.125;MQ=60.00;MQRankSum=0.00;QD=1.17;ReadPosRankSum=1.37;SOR=8.764	GT:AD:DP:GQ:PL	0/1:74,24:111:99:223,0,1690	10	0	2	9
chr11	45212535	45212535	C	T	exonic	PRDM11	.	nonsynonymous SNV	PRDM11:NM_001384649:exon7:c.C1043T:p.P348L	.	.	355	1165	2	0	0	2	0.000857633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0.0154	0	0	0	0	1.29e-05	2	154602	rs769359086	3.957e-05	2.545e-05	2.298e-05	5.211e-05	0.0007	2.208e-05	1.764e-05	0.0003	0.0002	0	7.353e-05	0	0.0007	0	0	1.26e-05	0	3.356e-05	6.572e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	652.98	38	chr11	45212535	.	C	T	652.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.925;DP=746;ExcessHet=0.0000;FS=1.268;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.55;ReadPosRankSum=1.58;SOR=0.480	GT:AD:DP:GQ:PL	0/1:17,25:42:99:667,0,388	20	0	1	0
chr11	56123007	56123007	T	C	exonic	OR8H3	.	nonsynonymous SNV	OR8H3:NM_001005201:exon1:c.T635C:p.I212T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.003	B	0.019	B	0.011	N	1.000	N	0.97	L	1.07	T	-1.036	T	0.068	T	0.056	-0.424	2.024	0.989	-0.035	-0.163	5.830	0.036	0.00108051163537	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.31235	T	0.106	0.37872	T	0.003	0.11197	B	0.019	0.18783	B	0.010984	0.29704	N	0.239986	1	0.08975	N	0.975	0.24501	L	1.07	0.39586	T	-2.84	0.59873	D	0.046	0.01825	-1.0360	0.18544	T	0.068	0.27947	T	10	0.09700182	0.17439	T	0.001081	0.01263	T	0.036	0.09122	0.61	0.74300	0.297718772494	0.29385	0.06401356579096566	0.06340	0.0417714676067	0.04490	0.233906298876	0.02269	T	0.015925	0.13262	T	-0.329562	0.06144	T	-0.711169	0.05235	T	0.163393467664719	0.18119	T	0.30177	0.05696	T	0.07866515	0.17928	0.089174464	0.20836	0.07866515	0.17928	0.089174464	0.20836	-4.781	0.34369	T	.	.	0.121	0.25100	B	.	.	0.967745	0.13443	9.955	0.8201356368128514	0.13974	0.03080	0.07997	N	AEFI	0.033067	0.03853	N	-0.8785813874454	0.11353	0.5474319	-0.87931558658662	0.12584	0.6481952	1.22526348213405E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.62	0.989	0.18920	-0.288000	0.08412	.	.	0.316000	0.19262	0.000000	0.06391	0.000000	0.08366	0.073000	0.16832	0.0:0.089:0.3181:0.5929	5.830	0.17830	156	0.93906	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	4640.98	39	chr11	56123007	.	T	C	4640.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.181;DP=2340;ExcessHet=0.0000;FS=2.829;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.81;MQRankSum=-1.055e+00;QD=12.86;ReadPosRankSum=-3.560e-01;SOR=0.553	GT:AD:DP:GQ:PL	0/1:185,176:361:99:4655,0,4931	20	0	1	0
chr11	56375950	56375950	A	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	653.59	237	chr11	56375950	.	A	G,*	653.59	.	AC=2,17;AF=0.048,0.405;AN=42;BaseQRankSum=5.82;DP=5436;ExcessHet=36.0830;FS=3.202;InbreedingCoeff=-0.8261;MLEAC=2,17;MLEAF=0.048,0.405;MQ=60.00;MQRankSum=0.00;QD=0.13;ReadPosRankSum=-1.131e+00;SOR=1.028	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:235,11,27:273:99:0|1:56375950_A_G:494,615,10401,0,9469,9934:56375950	2	0	2	0
chr11	56375951	56375951	T	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	440.62	237	chr11	56375951	.	T	G,*	440.62	.	AC=3,16;AF=0.075,0.400;AN=40;BaseQRankSum=3.55;DP=5427;ExcessHet=36.0830;FS=3.220;InbreedingCoeff=-0.8667;MLEAC=3,16;MLEAF=0.075,0.400;MQ=60.00;MQRankSum=0.00;QD=0.09;ReadPosRankSum=-1.200e+00;SOR=1.016	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:235,11,27:273:99:0|1:56375950_A_G:494,615,10401,0,9469,9934:56375950	1	0	3	1
chr11	56375953	56375953	A	0	exonic	OR8U1;OR8U8	.	.	.	.	.	429	642	47	0	404	451	0.0353118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	822.68	237	chr11	56375953	.	A	T,*	822.68	.	AC=3,16;AF=0.075,0.400;AN=40;BaseQRankSum=3.15;DP=5417;ExcessHet=36.0830;FS=3.217;InbreedingCoeff=-0.8667;MLEAC=3,16;MLEAF=0.075,0.400;MQ=60.00;MQRankSum=0.00;QD=0.16;ReadPosRankSum=-4.650e-01;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:233,11,30:274:99:0|1:56375950_A_G:615,735,10465,0,9397,9673:56375950	1	0	3	1
chr11	56412815	56412815	A	G	exonic	OR5AL1	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.848e-05	2.545e-05	2.475e-05	3.211e-05	0.0001	1.283e-05	8.6e-06	5.06e-06	2.4e-06	0.0001	0	0	0	0	0	1.902e-05	0.0002	0	6.573e-06	6.566e-06	1.286e-05	0	2.407e-05	0	0	.	.	2.407e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	330.15	47	chr11	56412815	.	A	G	330.15	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-3.272e+00;DP=1901;ExcessHet=0.6776;FS=88.232;InbreedingCoeff=-0.1093;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.58;ReadPosRankSum=1.46;SOR=10.239	GT:AD:DP:GQ:PL	0/1:133,30:163:91:91,0,3382	17	0	4	0
chr11	58215087	58215087	T	A	exonic	OR1S1	.	nonsynonymous SNV	OR1S1:NM_001004458:exon2:c.T343A:p.Y115N,	.	.	430	1088	4	0	0	4	0.00183486	.	.	3363317	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.000	D	0.923	D	3.21	M	7.11	T	-0.926	T	0.006	T	0.5	3.542	18.07	3.45	1.443	4.276	11.282	0.138	0.0019296207461	0.0007	0.000399361	0.0007	9.61e-05	0.0006	0	0	0.0008	0	0.0012	0.0006274	97	154602	rs146969930	0.0006	0.0006	0.0006	0.0007	0.0040	0.0006	0.0006	0.0027	0.0023	0.0003	0.0010	0	0	3.744e-05	0.0040	0.0006	0.0010	0.0011	0.0006	0.0006	0.0006	0.0007	0.0010	0.0005	0.0005	0.0007	0.0007	0.0001	0	0.0010	0	0	0	0.0136	0.0009	0.0024	0.0010	.	.	.	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.000440	0.44522	D	0.000000	0.922592	0.36722	D	3.925	0.96283	H	.	.	.	.	.	.	.	.	-0.9260	0.44716	T	0.006	0.01907	T	10	0.044725657	0.03463	T	0.00193	0.03430	T	.	.	.	.	.	.	0.1578217699288145	0.15703	.	.	0.231855243444	0.02108	T	0.013349	0.11560	T	-0.372036	0.03493	T	-0.357621	0.38328	T	0.212711844686586	0.21094	T	0.781422	0.45429	T	0.59721506	0.72541	0.6785944	0.81120	0.59721506	0.72542	0.6785944	0.81121	-7.24	0.55768	T	.	.	0.200	0.46631	B	.;.	.;.	3.583016	0.50527	23.0	0.99050031709217656	0.51230	0.95631	0.65497	D	AEFGI	0.388271	0.46795	N	0.585887707335826	0.72295	5.782984	0.445124694826626	0.64405	4.694867	0.689642540351515	0.22574	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.45	3.45	0.38602	4.547000	0.60422	-1.105000	0.06316	0.340000	0.19754	0.621000	0.27922	0.000000	0.08366	0.857000	0.40602	0.0:0.0:0.0:1.0	11.282	0.48431	360	0.84920	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	0	0	0	0	0	0	0	0	0	0	0	0.02381	2185.98	121	chr11	58215087	.	T	A	2185.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.86;DP=2925;ExcessHet=0.0000;FS=7.473;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.70;MQRankSum=-1.960e+00;QD=12.01;ReadPosRankSum=-4.860e-01;SOR=0.746	GT:AD:DP:GQ:PL	0/1:102,80:182:99:2200,0,2891	20	0	1	0
chr11	60179877	60179877	G	A	exonic	MS4A6A	.	nonsynonymous SNV	MS4A6A:NM_001330275:exon3:c.C320T:p.T107I	.	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.001	B	0.590	N	1.000	N	-1.065	N	3.79	T	-0.941	T	0.128	T	0.05	-0.728	0.884	-3.59	-0.744	-0.344	4.394	0.006	0.0168122089355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.614	0.06935	T	0.492	0.12316	T	0.0	0.02946	B	0.001	0.04355	B	0.590021	0.11059	N	0.800945	1	0.08975	N	-1.385	0.00624	N	3.78	0.80815	T	1.37	0.01051	N	0.121	0.11626	-0.9414	0.42394	T	0.128	0.43625	T	9	0.041385233	0.02790	T	0.016812	0.38239	T	0.006	0.00375	0.345	0.33950	0.487772906946	0.48408	0.1503286058014669	0.14954	0.0495021571329	0.05423	0.309618502855	0.11850	T	1.36E-4	0.00611	T	-0.251963	0.13860	T	-0.599704	0.12835	T	0.0221075182377133	0.00921	T	0.435856	0.11948	T	0.028259171	0.02137	0.03909373	0.03923	0.028259171	0.02136	0.03909373	0.03923	-3.196	0.18321	T	.	.	0.091	0.14201	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.197548	0.03103	0.491	0.17810886946528734	0.00534	0.00141	0.00861	N	AEFBI	0.285048	0.39776	N	-1.94458725454174	0.00277	0.0119035	-1.92017108795932	0.00446	0.01975492	0.999920731096788	0.46280	0.625279	0.40028	0	0.588066	0.40923	0	0.573888	0.23631	0	0.59522	0.37078	0	.	.	4.32	-3.59	0.04290	-0.266000	0.08660	1.384000	0.26059	-1.562000	0.00946	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.553:0.0:0.2712:0.1758	4.394	0.10784	781	0.47532	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1505.98	33	chr11	60179877	.	G	A	1505.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.470;DP=898;ExcessHet=0.0000;FS=1.670;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.06;ReadPosRankSum=-8.810e-01;SOR=0.920	GT:AD:DP:GQ:PL	0/1:43,57:100:99:1520,0,1063	20	0	1	0
chr11	61482774	61482774	G	A	exonic	PPP1R32	.	nonsynonymous SNV	PPP1R32:NM_001170753:exon4:c.G347A:p.R116Q	.	.	418	1053	47	4	0	55	0.0254512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.454	P	0.071	B	0.018	N	1.000	D	1.95	M	1.3	T	-0.988	T	0.085	T	0.438	3.483	17.82	4.15	1.125	0.334	10.523	0.098	.	0.0052	0.00319489	0.0082	0.0028	0.0042	0	0.0043	0.0102	0.0119	0.0114	0.0073673	1139	154602	rs140046775	0.0074	0.0074	0.0071	0.0078	0.0127	0.0073	0.0073	0.0119	0.0116	0.0033	0.0043	0.0025	0	0.0046	0.0127	0.0078	0.0071	0.0125	0.0063	0.0063	0.0064	0.0062	0.0114	0.0060	0.0058	0.0090	0.0081	0.0033	0.0164	0.0046	0.0035	0.0002	0.0048	0.0238	0.0087	0.0090	0.0114	0.041	0.42487	D	0.072	0.43344	T	0.454	0.36182	P	0.071	0.27960	B	0.018228	0.27531	N	0.249758	0.790906	0.34385	D	2.035	0.55589	M	0.8	0.48769	T	-2.27	0.50666	N	0.24	0.27077	-0.9881	0.33077	T	0.085	0.33185	T	10	0.0055578053	0.00123	T	.	.	.	0.098	0.28162	.	.	0.400756358115	0.39691	0.2824901324341105	0.28162	0.173007313036	0.19485	0.270249664783	0.06173	T	0.014843	0.12562	T	-0.447336	0.01171	T	-0.404956	0.32807	T	0.0144965262439168	0.00295	T	0.70443	0.31478	T	0.050360326	0.09085	0.0727772	0.15741	0.050360326	0.09084	0.0727772	0.15740	-3.792	0.20685	T	.	.	0.078	0.06756	B	.;.	.;.	1.455047	0.18768	13.91	0.9974269381755424	0.83629	0.19156	0.20550	N	AEFDGBHCI	0.132172	0.25138	N	-0.362726907490392	0.26808	1.465919	-0.395163743188018	0.25140	1.380801	0.99999999999439	0.74766	0.533608	0.22052	0	0.61073	0.52368	0	0.298653	0.05632	1	0.691587	0.68394	0	.	.	5.06	4.15	0.47978	0.448000	0.21443	-0.747000	0.07594	0.586000	0.30580	0.103000	0.22855	0.000000	0.08366	0.141000	0.19983	0.0919:0.0:0.9081:0.0	10.523	0.44121	721	0.55360	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	692.98	33	chr11	61482774	.	G	A	692.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=774;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.75;ReadPosRankSum=0.296;SOR=0.783	GT:AD:DP:GQ:PL	0/1:31,28:59:99:707,0,738	20	0	1	0
chr11	61740527	61740527	G	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.G1918C:p.V640L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.984	D	0.956	D	0.000	D	1.000	D	1.895	L	1.75	T	-0.929	T	0.147	T	0.816	4.674	25.8	4.41	2.173	9.720	17.371	0.359	0.0303838687175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.084	0.41239	T	0.984	0.60733	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.085	0.57729	M	1.75	0.26152	T	-1.66	0.39692	N	0.801	0.79696	-0.9294	0.44227	T	0.147	0.47183	T	10	0.85639554	0.84838	D	0.030384	0.52709	D	0.359	0.67962	0.717	0.85230	0.332276917938	0.32835	0.6045569509805981	0.60386	1.38609513779	0.84885	0.863340735435	0.91603	D	0.126602	0.45309	T	0.100887	0.64389	D	-0.0928586	0.63945	T	0.953071773052216	0.63941	D	0.949005	0.80370	D	0.34753636	0.56875	0.27692467	0.53642	0.34753636	0.56876	0.27692467	0.53641	-9.454	0.70572	D	.	.	0.932	0.85229	P	.	.	5.079334	0.84758	28.4	0.99721849654714378	0.82125	0.99768	0.99325	D	AEFBI	0.892349	0.82920	D	0.710803035018918	0.80340	7.272851	0.681479095580318	0.80974	7.419648	0.999999999989603	0.74766	0.651	0.46895	0	0.547309	0.14657	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	9.852000	0.98385	11.590000	0.93399	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.371	0.87267	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4	7460.77	117	chr11	61740527	.	G	C	7460.77	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-2.620e+00;DP=2290;ExcessHet=20.9642;FS=238.697;InbreedingCoeff=-0.6474;MLEAC=16;MLEAF=0.400;MQ=60.00;MQRankSum=0.00;QD=4.46;ReadPosRankSum=0.887;SOR=12.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,46:125:99:0|1:61740527_G_C:894,0,2116:61740527	4	0	16	1
chr11	61740531	61740531	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1922C:p.I641T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.948	P	0.588	P	0.000	D	1.000	D	1.5	L	1.82	T	-1.071	T	0.080	T	0.919	3.976	20.4	4.41	1.764	6.186	13.945	0.403	0.0197228382319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.015	0.61642	D	0.948	0.53620	P	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	1.82	0.25018	T	-2.3	0.51157	N	0.794	0.79022	-1.0707	0.09260	T	0.080	0.31675	T	10	0.8145296	0.80704	D	0.019723	0.42154	T	0.403	0.71636	0.74	0.87232	0.236619781664	0.23270	0.7000053541781993	0.69941	0.918852446908	0.71372	0.869591116905	0.92510	D	0.336126	0.70567	T	0.210662	0.74892	D	0.0648253	0.74565	D	0.952781975269318	0.63873	D	0.952105	0.81652	D	0.31849626	0.54512	0.2169086	0.46336	0.31849626	0.54512	0.2169086	0.46335	-9.563	0.71251	D	.	.	0.611	0.69337	P	.	.	4.584081	0.72443	25.8	0.99816410860115734	0.89973	0.98810	0.87149	D	AEFBI	0.685886	0.64774	D	0.421747977381816	0.62620	4.480836	0.433105891452527	0.63640	4.601745	0.999999987493739	0.74766	0.67177	0.52595	0	0.55458	0.17659	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	6.166000	0.71739	6.033000	0.52942	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.945	0.63586	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	11271.74	121	chr11	61740531	.	T	C	11271.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.350e+00;DP=2360;ExcessHet=54.0936;FS=275.616;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=4.98;ReadPosRankSum=0.649;SOR=13.232	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,46:123:99:0|1:61740527_G_C:900,0,2088:61740527	0	0	21	0
chr11	62529120	62529120	C	G	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.G5297C:p.G1766A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.97	D	0.747	P	.	.	1.000	D	2.9	M	2.26	T	-0.893	T	0.091	T	0.187	-0.077	3.624	3.58	1.700	1.421	15.132	0.137	0.00470689233249	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs76414066	3.352e-05	3.352e-05	3.267e-05	3.438e-05	0.0003	2.566e-05	2.312e-05	6.092e-05	2.589e-05	0	0	0	0	0	0.0003	3.867e-05	6.623e-05	0	5.918e-05	5.911e-05	0.0001	1.346e-05	9.662e-05	3.079e-05	2.211e-05	3.252e-05	1.916e-05	9.662e-05	0	6.544e-05	0	0	0	0	5.881e-05	0	0	0.144	0.25255	T	0.021	0.58089	D	0.97	0.56973	D	0.747	0.55931	P	.	.	.	.	0.987265	0.81001	D	2.78	0.81115	M	2.26	0.17596	T	-2.33	0.51646	N	0.321	0.36148	-0.8935	0.48623	T	0.091	0.34792	T	9	0.20265904	0.36393	T	0.004707	0.11722	T	0.137	0.36984	0.127	0.03251	0.139678290688	0.13603	0.18118799299098412	0.18037	0.180591923931	0.20310	0.307627499104	0.11549	T	0.643033	0.89076	D	-0.218333	0.18221	T	-0.53591	0.18701	T	0.146111023781262	0.16790	T	0.848415	0.52967	T	0.07757345	0.17616	0.11427742	0.27583	0.07757345	0.17616	0.11427742	0.27582	-9.095	0.68305	D	.	.	0.239	0.47305	B	.	.	0.714487	0.10832	7.513	0.72636426652376163	0.10042	0.71389	0.34992	D	AEFBI	.	.	.	-0.228172338764297	0.31982	1.798872	-0.446804778062224	0.23639	1.290219	0.999972990996052	0.50053	0.67177	0.52595	0	0.708844	0.79440	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	3.58	3.58	0.40133	1.924000	0.39695	.	.	0.434000	0.20985	0.107000	0.22934	0.922000	0.28345	0.013000	0.09966	0.0:1.0:0.0:0.0	15.132	0.72211	261	0.89765	.	.	.	.	.	.	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	0.02381	3460.98	46	chr11	62529120	.	C	G	3460.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.200;DP=1709;ExcessHet=0.0000;FS=3.570;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.30;ReadPosRankSum=1.36;SOR=0.938	GT:AD:DP:GQ:PL	0/1:117,125:242:99:3475,0,3214	20	0	1	0
chr11	62721306	62721306	T	C	exonic	HNRNPUL2	.	nonsynonymous SNV	HNRNPUL2:NM_001079559:exon9:c.A1600G:p.I534V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.98	D	0.833	P	0.000	D	1.000	D	2.36	M	0.85	T	-0.558	T	0.268	T	0.489	4.492	24.1	6.17	2.371	7.655	14.774	0.203	0.0101836284937	.	.	8.28e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs773085294	7.556e-06	8.209e-06	6.834e-06	8.285e-06	0.0003	4.06e-06	2.96e-06	6.103e-05	2.525e-05	0	0	0	0	0	0.0003	5.404e-06	3.325e-05	1.181e-05	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.003	0.76473	D	0.98	0.59353	D	0.833	0.59784	P	0.000000	0.84330	D	0.048793	0.999916	0.51042	D	2.835	0.82492	M	0.85	0.47130	T	-0.95	0.25332	N	0.624	0.63883	-0.5577	0.66492	T	0.268	0.63992	T	10	0.60425127	0.67084	D	0.010184	0.26412	T	0.203	0.48915	0.462	0.53079	0.523171964673	0.51961	0.6821099912903715	0.68149	1.15268127864	0.79260	0.776209652424	0.78356	T	0.132651	0.46286	T	-0.0706711	0.41220	T	-0.234005	0.51383	T	0.892781972885132	0.54392	D	0.936406	0.76145	D	0.46583533	0.65034	0.35085642	0.60689	0.46583533	0.65035	0.35085642	0.60688	-9.076	0.68184	D	.	.	0.367	0.57665	A	.	.	4.749756	0.76689	26.6	0.99861511039370998	0.94002	0.99452	0.96206	D	AEBI	0.871378	0.79274	D	0.795329924971335	0.85814	8.689479	0.806956742148253	0.90274	10.33277	0.999999999993575	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	6.17	6.17	0.99707	7.604000	0.82059	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.774	0.69335	469	0.78175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1675.98	33	chr11	62721306	.	T	C	1675.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.50;DP=790;ExcessHet=0.0000;FS=5.226;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.59;ReadPosRankSum=0.477;SOR=1.270	GT:AD:DP:GQ:PL	0/1:38,63:101:99:1690,0,820	20	0	1	0
chr11	65543442	65543442	G	A	exonic	LTBP3	.	nonsynonymous SNV	LTBP3:NM_001130144:exon17:c.C2461T:p.R821W	Dental anomalies and short stature, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.991	D	0.000	D	1.000	D	2.155	M	-2.28	D	0.629	D	0.747	D	0.58	2.527	14.41	4.39	1.974	2.038	12.463	0.184	0.563867688276	.	.	8.246e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs758861823	3.42e-06	3.42e-06	2.723e-06	4.125e-06	2.236e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	0	2.236e-05	0	0	0	0	3.597e-06	0	0	6.575e-06	6.567e-06	0	1.346e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.021	0.49613	D	0.015	0.63109	D	0.999	0.90584	D	0.951	0.72444	D	0.000009	0.62929	D	0.065178	0.962487	0.81001	D	1.825	0.47900	L	-2.28	0.87512	D	-2.69	0.59059	D	0.389	0.53884	0.629	0.92272	D	0.747	0.91376	D	10	0.7254261	0.73941	D	0.563868	0.96029	D	0.658	0.87184	0.578	0.70347	0.757294173142	0.75509	0.7656614325627071	0.76515	.	.	0.412799954414	0.26844	T	0.772558	0.93924	D	0.10485	0.64812	D	-0.0871669	0.64375	T	0.936863958835602	0.60620	D	0.763424	0.43036	T	0.13018239	0.30383	0.10537846	0.25331	0.13018239	0.30382	0.10537846	0.25331	-10.13	0.74686	D	.	.	0.153	0.50315	B	.;.;.;.	.;.;.;.	4.919238	0.81005	27.4	0.99879508438758957	0.95572	0.90658	0.52018	D	AEFDBI	0.831303	0.74987	D	0.42100348654529	0.62578	4.476017	0.316687682559156	0.56520	3.815444	0.99999998579512	0.74766	0.706548	0.73137	0	0.844039	0.99811	0	0.717052	0.78885	0	0.714379	0.83352	0	.	.	4.39	4.39	0.52211	1.849000	0.38958	5.710000	0.49419	0.662000	0.56354	0.039000	0.20931	1.000000	0.68203	0.922000	0.45779	0.0:0.0:1.0:0.0	12.463	0.55083	276	0.89131	.;Complement Clr-like EGF domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;Complement Clr-like EGF domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;Complement Clr-like EGF domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	809.98	33	chr11	65543442	.	G	A	809.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.97;DP=775;ExcessHet=0.0000;FS=5.106;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=0.239;SOR=1.359	GT:AD:DP:GQ:PL	0/1:37,29:66:99:824,0,832	20	0	1	0
chr11	65557857	65557857	-	CAGCAG	exonic	LTBP3	.	nonframeshift insertion	LTBP3:NM_001130144:exon1:c.102_103insCTGCTG:p.L35_G36insLL	Dental anomalies and short stature, Autosomal recessive	.	0	120	30	0	76	106	0.111111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	4305.49	23	chr11	65557854	.	CCAG	C,CCAGCAGCAG,CCAGCAG	4305.49	.	AC=4,6,1;AF=0.095,0.143,0.024;AN=42;BaseQRankSum=0.216;DP=999;ExcessHet=7.7275;FS=5.450;InbreedingCoeff=-0.3548;MLEAC=4,6,1;MLEAF=0.095,0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-5.530e-01;SOR=0.468	GT:AD:DP:GQ:PL	0/1:27,5,0,0:32:99:127,0,1037,208,1053,1261,208,1053,1261,1261	10	0	4	0
chr11	65557857	65557857	-	CAG	exonic	LTBP3	.	nonframeshift insertion	LTBP3:NM_001130144:exon1:c.102_103insCTG:p.L35_G36insL	Dental anomalies and short stature, Autosomal recessive	.	0	120	30	0	76	106	0.111111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	4305.49	23	chr11	65557854	.	CCAG	C,CCAGCAGCAG,CCAGCAG	4305.49	.	AC=4,6,1;AF=0.095,0.143,0.024;AN=42;BaseQRankSum=0.216;DP=999;ExcessHet=7.7275;FS=5.450;InbreedingCoeff=-0.3548;MLEAC=4,6,1;MLEAF=0.095,0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-5.530e-01;SOR=0.468	GT:AD:DP:GQ:PL	0/1:27,5,0,0:32:99:127,0,1037,208,1053,1261,208,1053,1261,1261	10	0	4	0
chr11	65779996	65779996	C	T	exonic	AP5B1	.	nonsynonymous SNV	AP5B1:NM_138368:exon2:c.G497A:p.G166E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.480881392194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.12e-06	2.052e-06	2.797e-06	1.428e-06	0.0002	5.6e-07	1.6e-07	3.1e-07	1.1e-07	0	0	0	0	0	0.0002	1.837e-06	0	0	6.568e-06	6.566e-06	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.067	0.35918	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	0.998107	0.22348	N	2.2	0.62015	M	.	.	.	-0.69	0.19720	N	0.331	0.37197	.	.	.	.	.	.	.	0.3334285	0.50533	T	0.480881	0.94839	D	.	.	.	.	0.504848970537	0.50123	0.46872080282486883	0.46791	0.252148003323	0.27782	0.668223083019	0.62584	T	0.008316	0.07645	T	-0.0545697	0.43751	T	-0.316162	0.42993	T	.	.	.	0.685431	0.29402	T	0.091935426	0.21556	0.20995475	0.45362	0.091935426	0.21556	0.20995475	0.45361	-4.106	0.25379	T	.	.	0.192	0.41094	B	.	.	2.046756	0.26021	16.97	0.99389218735514639	0.62247	0.07162	0.13187	N	ALL	.	.	.	.	.	.	.	.	.	1.0	0.98316	0.516213	0.21343	1	0.484254	0.07192	0	0.651303	0.49530	0	0.372554	0.06265	0	.	.	4.86	2.8	0.31881	1.205000	0.31914	2.024000	0.30222	-0.218000	0.08083	0.003000	0.16062	0.008000	0.19753	0.310000	0.24737	0.0:0.5143:0.4857:0.0	12.080	0.52966	281	0.88893	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	753.98	38	chr11	65779996	.	C	T	753.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.27;DP=793;ExcessHet=0.0000;FS=1.085;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=1.28;SOR=0.957	GT:AD:DP:GQ:PL	0/1:30,26:56:99:768,0,716	20	0	1	0
chr11	66863811	66863811	C	T	exonic	PC	.	nonsynonymous SNV	PC:NM_022172:exon10:c.G1331A:p.S444N	Pyruvate carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.001	B	0.006	B	0.000	D	1.000	D	0.6	N	-1.49	T	-0.718	T	0.281	T	0.218	1.574	11.22	5.54	2.603	6.822	12.661	0.340	0.0403761480499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.07746	T	0.513	0.10821	T	0.001	0.07471	B	0.006	0.12133	B	0.000002	0.62929	D	0.096468	0.999867	0.50061	D	0.27	0.09956	N	-1.49	0.81235	T	0.25	0.04456	N	0.597	0.61596	-0.7183	0.59546	T	0.281	0.65280	T	10	0.371042	0.53477	T	0.040376	0.59342	D	0.340	0.66202	0.353	0.35246	0.417919123248	0.41407	.	.	0.828852337507	0.67540	0.812464594841	0.83870	D	0.306455	0.67866	T	-0.0390994	0.46083	T	-0.29394	0.45361	T	0.607176721096039	0.36687	D	0.939506	0.77539	D	0.16597606	0.36904	0.18945736	0.42293	0.16597606	0.36904	0.18945736	0.42293	-5.616	0.42938	T	0.0686599878140657	0.02511	0.139	0.30370	B	.;.;.;.;.	.;.;.;.;.	2.999539	0.40076	21.1	0.94205998637530508	0.24445	0.96446	0.69180	D	AEFDGBI	0.747219	0.68934	D	-0.12521594567028	0.36297	2.09615	0.0861861627878325	0.43852	2.678501	0.999999992442072	0.74766	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	5.54	5.54	0.82907	5.305000	0.65541	7.502000	0.59501	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.8337:0.1663:0.0	12.661	0.56177	297	0.88113	Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3	1346.63	65	chr11	66863811	.	C	T	1346.63	.	AC=12;AF=0.300;AN=40;BaseQRankSum=-4.038e+00;DP=2406;ExcessHet=9.6308;FS=147.397;InbreedingCoeff=-0.4216;MLEAC=12;MLEAF=0.300;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=1.76;SOR=12.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:89,34:123:13:.:.:13,0,1245	8	0	12	1
chr11	67451824	67451824	C	G	exonic	GPR152	.	nonsynonymous SNV	GPR152:NM_206997:exon1:c.G901C:p.D301H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.676	P	0.122	B	0.010	N	0.518	N	1.04	L	1.07	T	-0.979	T	0.055	T	0.479	1.546	11.12	2.64	1.172	0.134	3.091	0.093	0.00937273252817	.	.	.	.	.	.	.	.	.	.	.	.	.	rs748077393	2.054e-06	2.052e-06	2.724e-06	1.376e-06	0.0002	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.007	0.69154	D	0.676	0.41315	P	0.122	0.32387	B	0.010234	0.30012	N	0.154565	0.517971	0.31593	N	2.67	0.78151	M	1.07	0.39586	T	-5.66	0.87063	D	0.414	0.45426	-0.9790	0.35231	T	0.055	0.23148	T	10	0.32466054	0.49786	T	0.009373	0.24577	T	0.093	0.26882	0.271	0.22052	0.642082960585	0.63912	0.40878749814814014	0.40794	1.01988730095	0.75077	0.495396584272	0.38187	T	0.103245	0.41173	T	-0.033459	0.46913	T	-0.285838	0.46203	T	0.972522974014282	0.69733	D	0.666133	0.27528	T	0.4476084	0.63890	0.5509616	0.74036	0.4476084	0.63891	0.5509616	0.74036	-3.759	0.20194	T	.	.	0.255	0.48998	B	.	.	2.781515	0.36536	20.3	0.99124806666205123	0.53089	0.44208	0.27268	N	AEFDGBCI	0.130160	0.24861	N	-0.266298272107347	0.30459	1.698524	-0.264045041216206	0.29291	1.639921	0.799921398882501	0.24168	0.421363	0.06395	0	0.550933	0.16991	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.67	2.64	0.30504	0.362000	0.20020	3.308000	0.37439	0.599000	0.40250	0.214000	0.24469	0.998000	0.33993	0.825000	0.38878	0.2144:0.5563:0.0:0.2292	3.091	0.05914	689	0.59000	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1131.98	33	chr11	67451824	.	C	G	1131.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.98;DP=790;ExcessHet=0.0000;FS=2.619;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=-2.950e-01;SOR=0.965	GT:AD:DP:GQ:PL	0/1:57,44:101:99:1146,0,1399	20	0	1	0
chr11	74749159	74749159	A	T	exonic	RNF169	.	nonsynonymous SNV	RNF169:NM_001098638:exon1:c.A279T:p.Q93H,	.	.	431	1089	2	0	0	2	0.000917431	.	.	2360609	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.09	T	0.971	D	0.69	P	0.873	U	1.000	N	0.415	N	-1.22	T	-0.645	T	0.280	T	0.228	1.613	11.35	-6.44	-1.125	-0.273	9.098	0.338	0.839004768283	.	.	0.0018	0	0	0	.	0.0093	0	0.0010	5.17e-05	8	154602	rs766525646	0.0001	0.0001	0.0001	0.0002	0.0011	0.0001	0.0001	0.0008	0.0007	0	0	0.0016	0	0	0.0003	0.0001	0.0002	0.0011	0.0001	0.0001	0.0001	9.589e-05	0.0010	6.624e-05	5.414e-05	0.0004	0.0003	0	0	0	0.0029	0	0	0	0	0.0005	0.0010	0.024	0.47745	D	0.026	0.55759	D	0.971	0.57185	D	0.69	0.53781	P	0.873379	0.08808	U	0.910342	1	0.08975	N	1.045	0.26769	L	-1.22	0.78752	T	-2.52	0.54702	D	0.191	0.20925	-0.6448	0.62940	T	0.280	0.65229	T	10	0.012994021	0.00277	T	0.839005	0.98755	D	0.338	0.66010	0.542	0.65446	0.76726031293	0.76513	0.36409549242919476	0.36323	0.547303286906	0.51699	0.905795574188	0.97058	D	0.185033	0.53787	T	-0.237499	0.15670	T	-0.236196	0.51169	T	0.522682905197144	0.33464	D	0.539146	0.18203	T	0.11964006	0.28167	0.117046975	0.28256	0.11964006	0.28167	0.117046975	0.28256	-3.807	0.20909	T	.	.	0.269	0.50352	B	.	.	0.548935	0.09173	5.958	0.88086535469275684	0.17706	0.04260	0.09791	N	AEFDBHCIJ	0.036775	0.04954	N	-0.813980441814273	0.12953	0.634804	-1.01204407560017	0.09519	0.4740892	0.999999999951446	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.166054	0.03999	2	0.56214	0.19341	0	.	.	3.63	-6.44	0.01749	-0.233000	0.09056	-3.381000	0.02830	-0.212000	0.08331	0.942000	0.32722	0.000000	0.08366	0.005000	0.06747	0.2106:0.1555:0.6339:0.0	9.098	0.35813	494	0.76445	Zinc finger, RING-type|Zinc finger, RING-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	0.02381	327.98	13	chr11	74749159	.	A	T	327.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.35;DP=460;ExcessHet=0.0000;FS=3.630;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=-1.097e+00;SOR=1.765	GT:AD:DP:GQ:PL	0/1:16,13:29:99:342,0,394	20	0	1	0
chr11	75006172	75006172	A	C	exonic	NEU3	.	nonsynonymous SNV	NEU3:NM_006656:exon3:c.A1066C:p.T356P	.	.	424	1058	38	2	0	42	0.0194625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.001	B	0.006	B	0.126	N	1.000	N	1.085	L	-1.76	D	-0.882	T	0.294	T	0.194	-0.310	2.524	-0.077	-0.170	-0.531	4.429	0.194	.	0.0013	0.00658946	0.0039	0.0004	0.0029	0	0.0002	0.0024	0.0078	0.0161	0.0036545	565	154602	rs143740329	0.0026	0.0026	0.0021	0.0031	0.0162	0.0026	0.0025	0.0155	0.0152	0.0004	0.0024	0.0044	2.519e-05	9.363e-05	0.0113	0.0017	0.0036	0.0162	0.0021	0.0021	0.0020	0.0023	0.0158	0.0019	0.0018	0.0129	0.0119	0.0006	0	0.0036	0.0052	0	0	0.0068	0.0020	0.0043	0.0158	0.389	0.10874	T	0.137	0.33894	T	.	.	.	.	.	.	0.126063	0.02768	N	1.748710	1	0.08975	N	.	.	.	-1.76	0.83578	D	-0.81	0.22294	N	0.059	0.04790	-0.8823	0.49577	T	0.294	0.66574	T	10	0.004731238	0.00100	T	.	.	.	0.194	0.47447	.	.	0.246215685461	0.24236	0.3099720632532257	0.30910	0.0512016197912	0.05634	0.269134581089	0.06028	T	.	.	.	-0.410974	0.01958	T	-0.350138	0.39189	T	0.00551444159673872	0.00060	T	0.167583	0.01563	T	.	.	.	.	.	.	.	.	-2.863	0.08778	T	.	.	0.065	0.02012	B	.;.	.;.	-0.372598	0.02317	0.246	0.78807510916451384	0.12461	0.11115	0.16418	N	AEFBCI	0.051137	0.09005	N	-0.977373718211172	0.09088	0.4287138	-0.994329827854061	0.09912	0.4959492	0.00239079858417211	0.09378	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.09	-0.0767	0.13055	0.053000	0.14067	-0.446000	0.09129	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5712:0.1622:0.2666:0.0	4.429	0.10945	807	0.43470	Sialidase;Sialidase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3485.98	35	chr11	75006172	.	A	C	3485.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.180e-01;DP=998;ExcessHet=0.0000;FS=0.441;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.86;ReadPosRankSum=0.143;SOR=0.724	GT:AD:DP:GQ:PL	0/1:131,140:271:99:3500,0,3229	20	0	1	0
chr11	75441767	75441767	G	A	exonic	GDPD5	.	nonsynonymous SNV	GDPD5:NM_001351167:exon9:c.C790T:p.R264W	.	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.959	D	0.001	N	0.999	D	2.085	M	2.51	T	-1.083	T	0.079	T	0.67	4.047	20.8	1.94	0.647	2.084	11.801	0.185	0.0448984704328	.	.	2.695e-05	0.0001	0	0	0	1.634e-05	0	6.437e-05	1.94e-05	3	154602	rs779432346	2.4e-05	2.599e-05	2.184e-05	2.618e-05	0.0007	1.743e-05	1.542e-05	0.0002	0.0001	0.0001	6.716e-05	0	0.0002	0	0.0007	9.894e-06	8.29e-05	1.161e-05	6.574e-06	6.568e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0.0032	0	0	0	0.001	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	0.959	0.70163	D	0.001000	0.40743	N	0.229280	0.994922	0.45151	D	2.12	0.58754	M	2.51	0.14284	T	-5.38	0.86222	D	0.609	0.68516	-1.0826	0.06852	T	0.079	0.31375	T	10	0.59246516	0.66457	D	0.044898	0.61715	D	0.185	0.45933	0.57	0.69299	0.45553875121	0.45177	0.7125847121742251	0.71200	0.96835728464	0.73271	0.326151520014	0.14352	T	0.398966	0.75694	T	-0.140347	0.29836	T	-0.257229	0.49101	T	0.605133473873138	0.36605	D	0.972503	0.90184	D	0.47252315	0.65446	0.4084128	0.65159	0.47252315	0.65446	0.4084128	0.65159	-8.888	0.67349	D	.	.	0.112	0.21840	B	.;.;.;.;.	.;.;.;.;.	4.992864	0.82791	27.9	0.99914102139734529	0.98238	0.54356	0.29596	D	AEFGBI	0.360101	0.45019	N	0.23365847811188	0.52835	3.455405	0.125249463432003	0.45844	2.840486	0.999937386509145	0.46732	0.646311	0.45356	0	0.670034	0.63936	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.14	1.94	0.25058	1.804000	0.38510	6.375000	0.55531	0.674000	0.70861	0.222000	0.24557	0.997000	0.33255	0.985000	0.61073	0.0:0.0:0.4097:0.5903	11.801	0.51400	724	0.55085	.;.;Glycerophosphodiester phosphodiesterase domain;Glycerophosphodiester phosphodiesterase domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	683.98	34	chr11	75441767	.	G	A	683.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.539e+00;DP=785;ExcessHet=0.0000;FS=2.263;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.36;ReadPosRankSum=0.504;SOR=0.412	GT:AD:DP:GQ:PL	0/1:37,29:66:99:698,0,1006	20	0	1	0
chr11	77211303	77211303	T	G	exonic	MYO7A	.	nonsynonymous SNV	MYO7A:NM_000260:exon45:c.T6203G:p.L2068R	Deafness, autosomal dominant 11, Autosomal dominant;Deafness, autosomal recessive 2, Autosomal recessive;Usher syndrome, type 1B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	361503	not_provided|Usher_syndrome_type_1|Autosomal_recessive_nonsyndromic_hearing_loss_2|Autosomal_dominant_nonsyndromic_hearing_loss_11	MedGen:C3661900|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060,Orphanet:90636|MONDO:MONDO:0011032,MedGen:C1832475,OMIM:601317,Orphanet:90635	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.949	P	0.847	P	0.000	D	1.000	D	2.705	M	-1.3	T	0.475	D	0.661	D	0.758	2.546	14.47	5.15	1.957	2.391	14.986	0.779	0.378130107512	.	.	0.0002	0.0003	0.0007	0	0	0.0001	0	0.0002	4.53e-05	7	154602	rs779090765	3.704e-05	3.967e-05	2.631e-05	4.797e-05	0.0004	2.889e-05	2.62e-05	0.0003	0.0002	0	2.494e-05	0	0	0	0	1.55e-05	8.434e-05	0.0004	1.971e-05	1.97e-05	0	4.035e-05	0.0004	5.24e-06	2.45e-06	7.285e-05	3.027e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.002	0.78490	D	0.006	0.72224	D	0.859	0.47319	P	0.786	0.57542	P	0.000004	0.62929	D	0.063005	0.999998	0.58761	D	2.98	0.85499	M	-1.3	0.79571	T	-5.12	0.83157	D	0.875	0.87265	0.475	0.90196	D	0.661	0.88216	D	10	0.91367644	0.90731	D	0.37813	0.92907	D	0.779	0.92623	0.866	0.96104	0.904170814146	0.90321	0.8902982180859788	0.88999	0.345316706052	0.36442	0.712979793549	0.69025	T	0.805484	0.95083	D	0.00555241	0.52417	T	0.0747468	0.75227	D	0.794468522071838	0.45983	D	0.951905	0.82243	D	0.9686224	0.98131	0.90827304	0.95566	0.9686224	0.98131	0.90827304	0.95566	-4.781	0.34369	T	0.42881635038653776	0.51630	0.314	0.54041	B	.;.;.;.	.;.;.;.	4.127817	0.61742	24.4	0.99598626743914231	0.74042	0.92795	0.56564	D	AEFDGI	0.635527	0.61501	D	0.535229669603304	0.69190	5.321692	0.488639817062882	0.67237	5.057011	0.997967467135757	0.36249	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.15	5.15	0.70287	2.371000	0.43902	7.867000	0.71756	0.665000	0.62972	0.994000	0.38300	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	14.986	0.71003	679	0.60090	FERM central domain|FERM domain|Band 4.1 domain|FERM central domain;.;.;FERM central domain|FERM domain|Band 4.1 domain|FERM central domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1052.98	35	chr11	77211303	.	T	G	1052.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.562e+00;DP=780;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=1.28;SOR=0.752	GT:AD:DP:GQ:PL	0/1:33,42:75:99:1067,0,852	20	0	1	0
chr11	78073127	78073127	G	A	exonic	NDUFC2;NDUFC2-KCTD14	.	nonsynonymous SNV	NDUFC2-KCTD14:NM_001203260:exon2:c.C181T:p.L61F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.981	D	0.91	D	0.002	N	1.000	D	1.87	L	0.52	T	-0.614	T	0.294	T	0.621	2.209	13.34	5.41	2.826	2.370	18.129	0.207	0.0152927396069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.056	0.49390	T	0.981	0.59675	D	0.91	0.64641	D	0.001730	0.38161	N	0.225304	0.997377	0.81001	D	1.24	0.30952	L	0.52	0.55266	T	-1.81	0.45222	N	0.298	0.39861	-0.6135	0.64258	T	0.294	0.66536	T	10	0.3948178	0.55150	T	0.015293	0.35936	T	0.207	0.49555	0.713	0.84872	0.422404719673	0.41854	0.39554031383581617	0.45522	1.60170403797	0.88696	0.471053600311	0.34825	T	0.012824	0.22643	T	0.0064378	0.52540	T	-0.228529	0.51914	T	0.894019484519958	0.54533	D	0.711729	0.32279	T	0.26298738	0.58596	0.3322656	0.59435	0.26298738	0.58596	0.3322656	0.59434	-4.531	0.31292	T	.	.	0.393	0.60035	A	.;.;.;.;.	.;.;.;.;.	2.988644	0.39896	21.1	0.99742894030052776	0.83629	0.83901	0.42992	D	AEFBI	0.434239	0.49537	N	0.535680113664548	0.69216	5.325468	0.504055823415607	0.68263	5.195942	0.99999788602083	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	5.41	5.41	0.78313	1.816000	0.38630	7.553000	0.60314	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.785000	0.37106	0.0:0.0:1.0:0.0	18.129	0.89525	601	0.67921	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1923	241.89	39	chr11	78073127	.	G	C,A	241.89	.	AC=3,2;AF=0.115,0.077;AN=26;BaseQRankSum=-6.900e-02;DP=670;ExcessHet=1.2264;FS=167.558;InbreedingCoeff=-0.2704;MLEAC=5,3;MLEAF=0.192,0.115;MQ=60.00;MQRankSum=0.00;QD=1.62;ReadPosRankSum=0.524;SOR=9.541	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,3,0:24:38:0|1:78073127_G_C:38,0,687,100,696,796:78073127	8	0	3	8
chr11	83169690	83169690	C	T	exonic	PCF11	.	nonsynonymous SNV	PCF11:NM_001346413:exon8:c.C3748T:p.H1250Y	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.981	D	0.954	D	0.000	D	1.000	D	1.39	L	1.8	T	-1.136	T	0.098	T	0.732	3.496	17.87	6.06	2.882	3.996	20.621	0.270	0.0111393070296	0.0039	0.000998403	0.0029	0.0011	0.0015	0	0.0011	0.0047	0	0	0.0031371	485	154602	rs17513642	0.0046	0.0046	0.0047	0.0045	0.0056	0.0045	0.0045	0.0055	0.0055	0.0007	0.0014	0.0023	2.519e-05	0.0015	0.0010	0.0056	0.0033	0.0001	0.0035	0.0035	0.0037	0.0032	0.0059	0.0032	0.0031	0.0054	0.0052	0.0010	0.0307	0.0020	0.0014	0	0.0017	0	0.0059	0.0014	0	0.247	0.17296	T	0.881	0.03214	T	0.981	0.59675	D	0.954	0.69447	D	0.000009	0.62929	D	0.000000	0.999518	0.47363	D	1.735	0.44892	L	1.8	0.25344	T	-1.15	0.29525	N	0.494	0.52740	-1.1363	0.01503	T	0.098	0.36754	T	9	0.009848684	0.00221	T	0.011139	0.28456	T	0.270	0.58507	.	.	0.49019323153	0.48651	0.4128032144238476	0.41196	0.449813838055	0.44759	0.547688126564	0.45532	T	0.025925	0.19289	T	-0.299473	0.08709	T	-0.197681	0.54865	T	0.0250292376543305	0.01277	T	0.79872	0.44372	T	0.09479777	0.22296	0.13963799	0.33310	0.09479777	0.22296	0.13963799	0.33309	-5.637	0.43129	T	.	.	0.134	0.28948	B	.	.	4.321820	0.66145	24.9	0.99722037100826133	0.82125	0.93705	0.58956	D	AEFGBHCI	0.504706	0.53616	D	0.648478285139463	0.76269	6.455631	0.6870485835556	0.81396	7.516592	0.999999999999978	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	6.06	6.06	0.98340	3.324000	0.51734	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.621	0.99492	366	0.84579	.	.	.	.	.	.	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	0.02381	3527.98	34	chr11	83169690	.	C	T	3527.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.210e-01;DP=996;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=-1.340e+00;SOR=0.710	GT:AD:DP:GQ:PL	0/1:147,132:279:99:3542,0,3901	20	0	1	0
chr11	83224944	83224944	A	G	exonic	ANKRD42	.	nonsynonymous SNV	ANKRD42:NM_001300972:exon6:c.A676G:p.N226D	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.962	D	0.000	D	1.000	D	0.83	L	2.52	T	-1.118	T	0.041	T	0.447	4.485	24.0	5.67	2.154	6.289	14.897	0.099	0.0118667640058	0.0045	0.000798722	0.0031	0.0011	0.0015	0	0.0012	0.0051	0	0.0002	0.0033311	515	154602	rs17515016	0.0051	0.0051	0.0052	0.0049	0.0062	0.0050	0.0049	0.0061	0.0060	0.0008	0.0014	0.0025	2.52e-05	0.0019	0.0007	0.0062	0.0039	0.0002	0.0036	0.0036	0.0040	0.0032	0.0061	0.0033	0.0032	0.0057	0.0055	0.0009	0.0307	0.0021	0.0017	0	0.0018	0	0.0061	0.0024	0.0002	0.087	0.91255	T	0.239	0.24477	T	0.984	0.90584	D	0.867	0.70672	P	0.000004	0.62929	D	0.000000	0.989834	0.41032	D	2.81	0.81869	M	2.52	0.14160	T	-3.37	0.68764	D	0.676	0.72120	-1.1176	0.02489	T	0.041	0.17742	T	9	0.010637909	0.00236	T	0.011867	0.29919	T	0.099	0.28413	.	.	0.632527967172	0.62951	0.4383039340567956	0.43747	0.636100026139	0.57402	0.607238888741	0.53925	T	0.079479	0.36137	T	-0.389856	0.02697	T	-0.327087	0.41791	T	0.0118619052542774	0.00185	T	0.869313	0.57326	D	0.53065664	0.68868	0.48457134	0.70164	0.53065664	0.68869	0.48457134	0.70164	-6.599	0.51045	T	.	.	0.548	0.76897	A	.;.;.;.	.;.;.;.	4.797909	0.77929	26.8	0.99809469920519844	0.89353	0.94858	0.62574	D	AEFI	0.620315	0.60542	D	0.462297344401442	0.64904	4.755791	0.535399049698497	0.70388	5.497943	0.520722880965749	0.21094	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.67	5.67	0.87673	6.733000	0.74600	10.976000	0.84567	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.897	0.70291	562	0.71143	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|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	0.02381	525.98	33	chr11	83224944	.	A	G	525.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.810e-01;DP=721;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.23;ReadPosRankSum=-6.650e-01;SOR=0.663	GT:AD:DP:GQ:PL	0/1:18,25:43:99:540,0,398	20	0	1	0
chr11	85720911	85720911	G	T	exonic	SYTL2	.	nonsynonymous SNV	SYTL2:NM_001162951:exon8:c.C1508A:p.A503D	.	.	432	1079	11	0	0	11	0.00507146	.	.	724778	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.798	P	0.429	B	0.124	N	1.000	N	1.7	L	1.72	T	-0.941	T	0.089	T	0.238	1.208	9.905	4.89	1.446	3.379	11.640	0.032	.	0.0088	0.00239617	0.0078	0.0014	0.0022	0	0.0147	0.0114	0.0144	0.0023	0.0078071	1207	154602	rs74547795	0.0094	0.0095	0.0097	0.0092	0.0106	0.0093	0.0093	0.0104	0.0103	0.0014	0.0032	0.0136	2.519e-05	0.0139	0.0047	0.0106	0.0087	0.0024	0.0077	0.0078	0.0078	0.0077	0.0116	0.0074	0.0072	0.0109	0.0107	0.0018	0.0033	0.0056	0.0144	0.0002	0.0138	0	0.0116	0.0071	0.0029	0.037	0.43708	D	0.345	0.57104	T	0.009	0.16609	B	0.035	0.22741	B	0.124102	0.18893	N	0.562585	0.661865	0.30494	N	2.075	0.57047	M	1.63	0.28391	T	-2.63	0.62343	D	0.29	0.44090	-0.9411	0.42442	T	0.089	0.34216	T	9	0.00502038	0.00108	T	.	.	.	0.032	0.07718	.	.	0.543995976431	0.54053	0.43247073042365514	0.43164	0.0172038814892	0.01670	0.440875887871	0.30696	T	0.065712	0.64664	T	-0.505865	0.00530	T	-0.487092	0.23696	T	0.0109972066816872	0.00158	T	0.822218	0.48193	T	0.34158683	0.56405	0.3544117	0.60986	0.28711665	0.51723	0.3544117	0.60986	-7.452	0.57272	T	.	.	0.156	0.46825	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.921845	0.57260	23.8	0.96169482988757549	0.28923	0.89773	0.50456	D	AEFBI	0.478656	0.52113	N	0.0193688179009402	0.42737	2.580632	0.130897799693002	0.46137	2.864721	0.999996728304613	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.81	4.89	0.63387	3.468000	0.52850	8.560000	0.77563	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.808000	0.38083	0.0:0.1342:0.7263:0.1395	11.640	0.50484	387	0.83408	.;.;.;.;.;.;.;.;.	.	.	.	.	rs74547795	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	0.02381	1148.98	35	chr11	85720911	.	G	T	1148.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.573e+00;DP=811;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.26;ReadPosRankSum=1.23;SOR=0.620	GT:AD:DP:GQ:PL	0/1:51,51:102:99:1163,0,1271	20	0	1	0
chr11	86031582	86031582	C	T	exonic	PICALM	.	nonsynonymous SNV	PICALM:NM_001008660:exon2:c.G160A:p.V54M	Leukemia, acute myeloid, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.999	D	0.000	D	1.000	D	1.785	L	1.51	T	-0.916	T	0.183	T	0.881	4.826	27.4	5.52	2.588	7.750	19.448	0.273	0.0213262870975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.47320	D	0.075	0.57587	T	0.943	0.53072	P	0.928	0.66279	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.17	0.29769	L	1.51	0.30937	T	-2.38	0.57599	N	0.478	0.54147	-0.9162	0.46063	T	0.183	0.53194	T	9	0.7586508	0.76175	D	0.021326	0.44082	T	0.273	0.58883	0.682	0.81982	0.680912834824	0.67819	0.40081948121042876	0.39996	0.939219290229	0.72156	0.883453011513	0.94421	D	0.474879	0.80615	T	0.194242	0.73355	D	0.0412385	0.73008	D	0.979914247989655	0.73080	D	0.962404	0.87188	D	0.5487056	0.69884	0.41596812	0.65695	0.5487056	0.69885	0.41596812	0.65695	-12.576	0.87543	D	.	.	0.587	0.77273	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.621486	0.73395	26.0	0.99846933833616425	0.92663	0.98304	0.81443	D	AEFGBI	0.913154	0.87475	D	0.679677169106741	0.78300	6.84399	0.709672495467543	0.83111	7.937366	1.0	0.98316	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.52	5.52	0.82153	6.144000	0.71525	5.922000	0.51181	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.448	0.94847	651	0.62880	AP180 N-terminal homology (ANTH) domain|ENTH  domain|ENTH  domain;.;AP180 N-terminal homology (ANTH) domain|ENTH  domain|ENTH  domain;AP180 N-terminal homology (ANTH) domain|ENTH  domain|ENTH  domain;.;.;AP180 N-terminal homology (ANTH) domain|ENTH  domain|ENTH  domain;AP180 N-terminal homology (ANTH) domain|ENTH  domain|ENTH  domain;AP180 N-terminal homology (ANTH) domain|ENTH  domain|ENTH  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	0.04762	93.44	25	chr11	86031582	.	C	T	93.44	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.100e+00;DP=939;ExcessHet=0.1072;FS=204.210;InbreedingCoeff=-0.0599;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.54;ReadPosRankSum=0.417;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,15:75:92:0|1:86031582_C_T:92,0,1902:86031582	19	0	2	0
chr11	94528131	94528131	G	A	exonic	C11orf97	.	nonsynonymous SNV	C11orf97:NM_001190462:exon3:c.G298A:p.G100S,	.	.	438	944	131	9	0	149	0.0731468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0107827	0.0327	0.0054	0.0106	0	0	0.0239	0.0379	0.0402	0.0043337	670	154602	rs12802057	0.0088	0.0084	0.0077	0.0099	0.0687	0.0087	0.0086	0.0631	0.0608	0.0066	0.0086	0.0279	0.0002	0.0008	0.0687	0.0062	0.0150	0.0377	0.0082	0.0082	0.0075	0.0090	0.0321	0.0079	0.0077	0.0280	0.0264	0.0056	0.0011	0.0098	0.0268	0.0002	0.0002	0.0442	0.0083	0.0194	0.0321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0038235784	0.00072	T	.	.	.	.	.	.	.	.	.	0.09051444811491477	0.08984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.520648	0.16939	T	0.046739276	0.07874	0.13153316	0.31583	0.046739276	0.07874	0.13153316	0.31582	-3.12	0.11527	T	.	.	0.066	0.02228	B	.	.	1.111347	0.14965	11.48	0.78473321330434909	0.12316	0.48366	0.28191	N	AEFBI	.	.	.	.	.	.	.	.	.	0.929341479701201	0.26965	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.340229	0.35942	5.56	0.771	0.17648	0.488000	0.22080	0.510000	0.19072	0.654000	0.53741	0.995000	0.38783	0.969000	0.29651	0.948000	0.49324	0.3869:0.0:0.6131:0.0	9.309	0.37057	859	0.33891	.	.	.	.	.	rs12802057	Uncertain significance	0	0	0	0	0	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	5153.68	46	chr11	94528131	.	G	A	5153.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.150e-01;DP=1256;ExcessHet=0.3300;FS=1.769;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.03;ReadPosRankSum=0.104;SOR=0.846	GT:AD:DP:GQ:PL	0/1:77,78:155:99:1855,0,1896	18	0	3	0
chr11	94998442	94998442	A	G	exonic	KDM4D	.	nonsynonymous SNV	KDM4D:NM_018039:exon3:c.A1070G:p.E357G,	.	.	426	1042	54	0	0	54	0.0252572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.986	D	0.717	P	0.000	U	1.000	N	1.59	L	1.46	T	-1.057	T	0.055	T	0.073	2.859	15.52	-1.5	-0.290	0.824	4.004	0.082	.	0.0037	0.00998403	0.0072	0.0097	0.0024	0.0002	0	0.0020	0.0188	0.0355	0.0063906	988	154602	rs76057256	0.0039	0.0039	0.0028	0.0050	0.0361	0.0038	0.0038	0.0351	0.0347	0.0100	0.0025	3.826e-05	0.0002	0.0001	0.0142	0.0016	0.0054	0.0361	0.0058	0.0058	0.0059	0.0056	0.0304	0.0054	0.0053	0.0264	0.0249	0.0111	0	0.0089	0.0003	0	9.411e-05	0.0102	0.0017	0.0066	0.0304	0.005	0.63226	D	0.075	0.42794	T	0.986	0.61523	D	0.717	0.54739	P	0.000006	0.62929	U	0.000000	1	0.08975	N	1.935	0.51832	L	1.46	0.32238	T	-5.57	0.86372	D	0.042	0.02559	-1.0566	0.12621	T	0.055	0.23224	T	10	0.004995674	0.00107	T	.	.	.	0.082	0.23913	.	.	0.372268306217	0.36840	0.7254151298995516	0.72485	0.691323969143	0.60588	0.365792542696	0.20226	T	0.341384	0.71029	T	-0.607426	0.00131	T	-0.618842	0.11275	T	0.0720550780844124	0.08936	T	0.242976	0.03512	T	0.41269726	0.61602	0.2966068	0.55694	0.41269726	0.61603	0.2966068	0.55693	-5.24	0.39346	T	.	.	0.061	0.01143	B	.;.;.	.;.;.	1.733267	0.22059	15.46	0.99500475937407351	0.67973	0.47774	0.28058	N	AEFDGBI	0.074009	0.14822	N	-0.296844974326509	0.29270	1.621704	-0.500331210384512	0.22145	1.201373	0.0135475313907863	0.12479	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	3.56	-1.5	0.08233	0.980000	0.29111	-1.299000	0.05779	0.658000	0.54486	0.756000	0.29198	0.000000	0.08366	0.140000	0.19946	0.5476:0.182:0.2704:0.0	4.004	0.09081	944	0.12746	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4503.11	34	chr11	94998442	.	A	G	4503.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.117;DP=1007;ExcessHet=0.1072;FS=1.303;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=0.376;SOR=0.610	GT:AD:DP:GQ:PL	0/1:74,80:154:99:2175,0,1889	19	0	2	0
chr11	95026213	95026213	A	G	exonic	KDM4E	.	nonsynonymous SNV	KDM4E:NM_001161630:exon1:c.A656G:p.H219R,	.	.	434	1083	5	0	0	5	0.00230309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	0.999	N	-2.88	N	-0.52	T	-0.917	T	0.042	T	0.093	-2.611	0	0.89	0.487	1.296	4.521	0.140	.	.	0.00479233	0.0041	0.0002	0.0003	0.0001	0	6.008e-05	0.0033	0.0290	0.0034734	537	154602	rs563454932	0.0018	0.0018	0.0010	0.0026	0.0280	0.0017	0.0017	0.0271	0.0267	0	0.0002	0	2.519e-05	0	0.0019	5.575e-05	0.0020	0.0280	0.0008	0.0008	0.0004	0.0013	0.0239	0.0007	0.0007	0.0204	0.0191	7.227e-05	0	0	0	0	0	0	8.829e-05	0.0009	0.0239	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999446	0.21182	N	-2.095	0.00157	N	-0.52	0.70717	T	4.56	0.00034	N	0.075	0.04913	-0.9170	0.45958	T	0.042	0.17952	T	9	0.0041848123	0.00083	T	.	.	.	0.140	0.37593	0.492	0.57890	0.043077524339	0.03247	0.47628530091073634	0.47548	0.431286790697	0.43342	0.722756564617	0.70449	T	0.004679	0.04092	T	-0.570353	0.00220	T	-0.570419	0.15411	T	0.020213558055547	0.00721	T	0.622038	0.23930	T	0.07239761	0.16100	0.041845765	0.04850	0.07239761	0.16100	0.041845765	0.04849	-1.189	0.01235	T	.	.	0.049	0.00107	B	.	.	-0.067603	0.03838	0.824	0.18754802748313712	0.00603	0.00161	0.00961	N	AEFGBI	0.014744	0.00248	N	-1.61909717250521	0.01172	0.05095243	-1.46445417317676	0.02642	0.1218672	0.598334702221061	0.21704	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.84	0.89	0.18352	0.710000	0.25421	1.776000	0.28675	-0.311000	0.06080	0.000000	0.06391	0.075000	0.22287	0.027000	0.12703	0.3259:0.0:0.6741:0.0	4.521	0.11363	944	0.12746	JmjC domain|JmjC domain|JmjC 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	0.02381	3120.98	39	chr11	95026213	.	A	G	3120.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.18;DP=1416;ExcessHet=0.0000;FS=3.002;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.66;MQRankSum=-2.521e+00;QD=14.00;ReadPosRankSum=-9.770e-01;SOR=0.928	GT:AD:DP:GQ:PL	0/1:102,121:223:99:3135,0,2472	20	0	1	0
chr11	96092091	96092093	TGT	-	exonic	MAML2	.	nonframeshift deletion	MAML2:NM_032427:exon2:c.1938_1940del:p.Q665del,	Mucoepidermoid salivary gland carcinoma (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0	0	0	0	0	0	0.0023	3.84e-05	1	26028	rs781413748	0.0001	0.0001	6.944e-05	0.0002	0.0024	0.0001	0.0001	0.0021	0.0020	0	2.803e-05	0	2.803e-05	0	0	1.861e-06	3.469e-05	0.0024	8.632e-05	9.236e-05	6.494e-05	0.0001	0.0027	5.007e-05	4.001e-05	0.0016	0.0013	0	0	0	0	0	0	0	0	0	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1937.94	37	chr11	96092090	.	CTGT	C	1937.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.745;DP=974;ExcessHet=0.0000;FS=10.342;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.50;ReadPosRankSum=1.16;SOR=0.476	GT:AD:DP:GQ:PL	0/1:71,54:125:99:1952,0,2544	20	0	1	0
chr11	96092217	96092219	TGC	-	exonic	MAML2	.	nonframeshift deletion	MAML2:NM_032427:exon2:c.1812_1814del:p.Q621del,	Mucoepidermoid salivary gland carcinoma (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	82727.93	103	chr11	96092210	.	TTGCTGCTGC	T,TTGCTGC	82727.93	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=-1.300e-01;DP=3240;ExcessHet=0.3300;FS=2.351;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=59.99;MQRankSum=0.00;QD=26.30;ReadPosRankSum=0.083;SOR=1.120	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:73,66,5:144:99:.:.:2378,0,2983,2413,2649,5213	0	17	3	0
chr11	102775202	102775202	A	G	exonic	MMP10	.	nonsynonymous SNV	MMP10:NM_002425:exon7:c.T1052C:p.V351A,	.	.	.	.	.	.	.	.	.	.	.	2370968	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	1.0	D	1.0	D	0.327	N	1.000	N	1.67	L	4.11	T	-1.048	T	0.024	T	0.267	2.321	13.72	3.1	0.772	1.798	8.024	0.053	0.00592495614423	.	.	8.564e-05	0	0	0	0	0.0002	0	0	7.12e-05	11	154602	rs201248623	7.286e-05	7.456e-05	7.446e-05	7.124e-05	0.0012	6.134e-05	5.675e-05	0.0006	0.0004	3.043e-05	0	0.0017	0	0	0.0012	3.899e-05	0.0002	0	8.545e-05	8.538e-05	0.0001	6.727e-05	7.352e-05	4.959e-05	3.964e-05	2.847e-05	1.859e-05	0	0	0	0.0023	0	0	0	7.352e-05	0	0	0.025	0.47320	D	0.027	0.55341	D	1.0	0.90584	D	1.0	0.97372	D	0.327313	0.14172	N	0.606658	1	0.08975	N	2.49	0.72568	M	4.11	0.02916	T	-3.37	0.66665	D	0.431	0.47022	-1.0483	0.14875	T	0.024	0.10284	T	10	0.09551877	0.17065	T	0.005925	0.15430	T	0.053	0.14996	.	.	0.311387274539	0.30754	0.7331489841672488	0.73259	0.0397582316544	0.04249	0.353751987219	0.18473	T	0.161217	0.50538	T	-0.303548	0.08329	T	-0.492891	0.23087	T	0.982672333717346	0.74634	D	0.669833	0.27843	T	0.13769291	0.31873	0.17728305	0.40320	0.13769291	0.31873	0.17728305	0.40319	-6.97	0.53814	T	.	.	0.251	0.48561	B	.	.	2.440107	0.31407	18.73	0.98986417993702669	0.49841	0.15222	0.18805	N	AEFI	0.096428	0.19467	N	-0.105063175976889	0.37172	2.158828	-0.31366329384255	0.27656	1.536214	1.1303491965864E-5	0.02871	0.706298	0.61202	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	4.23	3.1	0.34780	3.134000	0.50233	5.241000	0.48062	0.751000	0.87719	0.027000	0.20232	0.999000	0.35428	0.463000	0.28185	0.8309:0.0:0.1691:0.0	8.024	0.29586	768	0.49510	Hemopexin-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	554.98	34	chr11	102775202	.	A	G	554.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.072e+00;DP=743;ExcessHet=0.0000;FS=1.085;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=0.495;SOR=0.527	GT:AD:DP:GQ:PL	0/1:24,26:50:99:569,0,561	20	0	1	0
chr11	106010659	106010659	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259A:p.A87T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.002	B	0.003	B	0.000	D	0.991	D	1.5	L	.	.	-0.882	T	0.177	T	0.291	2.535	14.44	5.88	2.782	0.899	9.319	0.144	0.0031863420769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.25457	T	0.456	0.54934	T	0.002	0.09854	B	0.003	0.08700	B	0.000011	0.62929	D	0.111292	0.991109	0.41309	D	0.55	0.14455	N	.	.	.	-1.05	0.27463	N	0.139	0.13769	-0.8825	0.49561	T	0.177	0.52240	T	9	0.14178061	0.26937	T	0.003186	0.06966	T	0.144	0.38394	0.324	0.30549	0.333651784274	0.32972	0.3745214875372276	0.37366	0.306637953789	0.32968	0.538885176182	0.44288	T	0.040073	0.25406	T	-0.0969372	0.36933	T	-0.37702	0.36071	T	0.432566970586777	0.30156	T	0.762724	0.38847	T	0.054357305	0.10418	0.07319845	0.15878	0.054357305	0.10417	0.07319845	0.15878	-3.821	0.21119	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	3.124977	0.42209	21.5	0.99583064835214086	0.73099	0.90270	0.51314	D	AEFGBI	0.218300	0.34332	N	-0.0132163549372124	0.41258	2.464544	0.177121742542613	0.48595	3.073425	0.999902434550218	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.369000	0.33832	4.008000	0.41136	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.145:0.7831:0.0:0.0719	9.319	0.37114	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.375	5350.67	112	chr11	106010659	.	C	T,G	5350.67	.	AC=6,6;AF=0.188,0.188;AN=32;BaseQRankSum=-4.593e+00;DP=3242;ExcessHet=9.6308;FS=273.412;InbreedingCoeff=-0.5523;MLEAC=7,7;MLEAF=0.219,0.219;MQ=60.00;MQRankSum=0.00;QD=2.70;ReadPosRankSum=2.88;SOR=12.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:130,0,12:142:52:0|1:106010659_C_G:52,443,5902,0,5459,5423:106010659	4	0	6	5
chr11	106010659	106010659	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259C:p.A87P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.789	P	0.266	B	0.000	D	0.997	D	1.5	L	.	.	-0.909	T	0.128	T	0.715	2.775	15.24	5.88	2.782	0.899	9.319	0.141	0.00459803515366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.232	0.56192	T	0.789	0.44570	P	0.266	0.39732	B	0.000011	0.62929	D	0.111292	0.997442	0.43893	D	0.895	0.22405	L	.	.	.	-1.67	0.45404	N	0.439	0.47765	-0.9091	0.46965	T	0.128	0.43524	T	9	0.3502357	0.51900	T	0.004598	0.11377	T	0.141	0.37795	0.425	0.47021	0.354822389136	0.35094	0.7275256235572604	0.72696	0.716697243913	0.62006	0.596363663673	0.52391	T	0.064719	0.32505	T	0.133721	0.67721	D	-0.0456953	0.67316	D	0.881986200809479	0.53207	D	0.772023	0.40277	T	0.39838198	0.60620	0.35209376	0.60793	0.39838198	0.60621	0.35209376	0.60792	-6.644	0.51388	T	.	.	0.505	0.65603	A	.;.;.	.;.;.	3.825878	0.55270	23.6	0.996785884463948	0.79108	0.93283	0.57804	D	AEFGBI	0.427184	0.49123	N	0.316991759729759	0.57021	3.867974	0.412391093461756	0.62335	4.447326	0.999902434550218	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.369000	0.33832	4.008000	0.41136	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.145:0.7831:0.0:0.0719	9.319	0.37114	725	0.54935	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	5350.67	112	chr11	106010659	.	C	T,G	5350.67	.	AC=6,6;AF=0.188,0.188;AN=32;BaseQRankSum=-4.593e+00;DP=3242;ExcessHet=9.6308;FS=273.412;InbreedingCoeff=-0.5523;MLEAC=7,7;MLEAF=0.219,0.219;MQ=60.00;MQRankSum=0.00;QD=2.70;ReadPosRankSum=2.88;SOR=12.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:130,0,12:142:52:0|1:106010659_C_G:52,443,5902,0,5459,5423:106010659	4	0	6	5
chr11	106010660	106010660	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G258C:p.K86N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.001	B	0.002	B	0.001	D	0.672	N	0	N	.	.	-1.080	T	0.039	T	0.091	0.671	7.594	3.03	0.836	0.969	1.144	0.035	0.00140864098182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.794e-06	5.338e-05	6.814e-06	2.753e-06	1.16e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.502e-06	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.09572	T	0.455	0.12776	T	0.001	0.07471	B	0.002	0.06944	B	0.000777	0.41888	D	0.252245	0.672182	0.30354	N	1.1	0.28011	L	.	.	.	-0.42	0.25986	N	0.046	0.01825	-1.0800	0.07349	T	0.039	0.16935	T	9	0.07250753	0.10832	T	0.001409	0.02088	T	0.035	0.08770	0.333	0.32005	0.180583059064	0.17676	0.42697714804244885	0.42614	0.368530488454	0.38403	0.557739257812	0.46948	T	0.028728	0.20742	T	-0.209044	0.19513	T	-0.538054	0.18489	T	0.29334169626236	0.24729	T	0.788921	0.43637	T	0.06988713	0.15349	0.040901218	0.04526	0.06988713	0.15349	0.040901218	0.04526	-4.897	0.35701	T	.	.	0.261	0.51359	B	.;.;.	.;.;.	2.485158	0.32052	18.93	0.96605095872499003	0.30423	0.93307	0.57867	D	AEFGBI	0.282833	0.39607	N	-0.459278369652404	0.23427	1.257956	-0.24408778769958	0.29975	1.683831	0.956715357216671	0.28262	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	3.03	0.34070	0.769000	0.26267	2.724000	0.34335	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.2344:0.4203:0.1184:0.227	1.144	0.01662	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4333	6124.11	112	chr11	106010660	.	C	G	6124.11	.	AC=13;AF=0.433;AN=30;BaseQRankSum=-2.788e+00;DP=3216;ExcessHet=11.8493;FS=276.657;InbreedingCoeff=-0.6434;MLEAC=16;MLEAF=0.533;MQ=60.00;MQRankSum=0.00;QD=2.88;ReadPosRankSum=2.98;SOR=12.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,12:142:52:0|1:106010659_C_G:52,0,5423:106010659	2	0	13	6
chr11	106010663	106010663	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G255A:p.M85I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.002	B	0.004	B	0.000	D	0.902	D	0	N	.	.	-0.984	T	0.104	T	0.262	2.319	13.71	5.88	2.782	2.233	15.669	0.047	0.00279040284091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.465	0.47097	T	0.002	0.09854	B	0.004	0.10090	B	0.000001	0.84330	D	0.055431	0.902327	0.36202	D	-0.69	0.01958	N	.	.	.	-0.5	0.23156	N	0.133	0.12913	-0.9843	0.33998	T	0.104	0.38218	T	9	0.1143381	0.21509	T	0.00279	0.05810	T	0.047	0.12962	0.294	0.25720	0.256793551483	0.25290	0.12417175146048018	0.12343	0.345896987908	0.36490	0.592615962029	0.51864	T	0.021651	0.16823	T	-0.0923724	0.37684	T	-0.370463	0.36834	T	0.580747902393341	0.35647	D	0.831217	0.49813	T	0.22625625	0.45303	0.16779238	0.38690	0.22625625	0.45303	0.16779238	0.38689	-3.688	0.19141	T	.	.	0.249	0.48345	B	.;.;.	.;.;.	3.089872	0.41597	21.4	0.98105666193469465	0.38310	0.97626	0.75993	D	AEFGBI	0.400041	0.47508	N	-0.174858718993864	0.34183	1.948093	0.081881515894591	0.43638	2.661421	0.99999720305351	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.803000	0.38500	5.949000	0.51615	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8636:0.1364:0.0	15.669	0.77014	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1786	2573.14	115	chr11	106010663	.	C	T,G	2573.14	.	AC=2,3;AF=0.071,0.107;AN=28;BaseQRankSum=-4.138e+00;DP=2832;ExcessHet=1.1607;FS=230.122;InbreedingCoeff=-0.2534;MLEAC=3,4;MLEAF=0.107,0.143;MQ=60.00;MQRankSum=0.00;QD=2.96;ReadPosRankSum=2.64;SOR=10.505	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:137,0,11:148:15:0|1:106010659_C_G:15,427,6069,0,5642,5609:106010659	9	0	2	7
chr11	106010663	106010663	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G255C:p.M85I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.002	B	0.004	B	0.000	D	0.906	D	0	N	.	.	-0.988	T	0.104	T	0.262	2.196	13.30	5.88	2.782	2.233	15.669	0.043	0.0028274219259	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.465	0.47097	T	0.002	0.09854	B	0.004	0.10090	B	0.000001	0.84330	D	0.055431	0.905747	0.36282	D	-0.69	0.01958	N	.	.	.	-0.5	0.23156	N	0.133	0.12913	-0.9883	0.33027	T	0.104	0.38218	T	9	0.11421201	0.21482	T	0.002827	0.05927	T	0.043	0.11576	0.294	0.25720	0.256793551483	0.25290	0.12417172391841125	0.12343	0.345896987908	0.36490	0.592615962029	0.51864	T	0.021651	0.16823	T	-0.0923564	0.37687	T	-0.37044	0.36836	T	0.580747902393341	0.35647	D	0.831217	0.49813	T	0.22625625	0.45303	0.16779238	0.38690	0.22625625	0.45303	0.16779238	0.38689	-3.688	0.19141	T	.	.	0.249	0.48345	B	.;.;.	.;.;.	3.013320	0.40302	21.1	0.9790952007803857	0.36801	0.97322	0.74021	D	AEFGBI	0.400041	0.47508	N	-0.174858718993864	0.34183	1.948093	0.081881515894591	0.43638	2.661421	0.99999720305351	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.803000	0.38500	5.949000	0.51615	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8636:0.1364:0.0	15.669	0.77014	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1786	2573.14	115	chr11	106010663	.	C	T,G	2573.14	.	AC=2,3;AF=0.071,0.107;AN=28;BaseQRankSum=-4.138e+00;DP=2832;ExcessHet=1.1607;FS=230.122;InbreedingCoeff=-0.2534;MLEAC=3,4;MLEAF=0.107,0.143;MQ=60.00;MQRankSum=0.00;QD=2.96;ReadPosRankSum=2.64;SOR=10.505	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:137,0,11:148:15:0|1:106010659_C_G:15,427,6069,0,5642,5609:106010659	9	0	2	7
chr11	106010664	106010664	A	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.T254C:p.M85T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.007	B	0.034	B	0.000	D	0.974	D	0	N	.	.	-0.972	T	0.117	T	0.382	2.309	13.68	5.88	2.244	5.797	16.275	0.101	0.00433488665054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.369e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.019	0.69154	D	0.007	0.14184	B	0.034	0.22546	B	0.000001	0.84330	D	0.055431	0.974346	0.39097	D	0	0.06538	N	.	.	.	-0.98	0.25986	N	0.258	0.29197	-0.9720	0.36776	T	0.117	0.41209	T	9	0.18700442	0.34192	T	0.004335	0.10529	T	0.101	0.28911	0.307	0.27806	0.379881503574	0.37595	0.25955710480305316	0.25869	0.399169766946	0.40951	0.666570842266	0.62349	T	0.035133	0.23597	T	0.00410563	0.52221	T	-0.231879	0.51589	T	0.783289670944214	0.45256	D	0.79692	0.44048	T	0.42211768	0.62233	0.30941108	0.56956	0.42211768	0.62233	0.30941108	0.56955	-1.765	0.02407	T	.	.	0.407	0.59964	A	.;.;.	.;.;.	3.510524	0.49159	22.7	0.97899140483582825	0.36731	0.98220	0.80657	D	AEFGBI	0.640959	0.61847	D	-0.0622681486623968	0.39056	2.297149	0.183205801398182	0.48926	3.102239	0.999999972724126	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	6.214000	0.72143	11.169000	0.87908	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	16.275	0.82465	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2222	2371.93	115	chr11	106010664	.	A	G	2371.93	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-2.480e+00;DP=2731;ExcessHet=0.6776;FS=248.284;InbreedingCoeff=-0.3238;MLEAC=7;MLEAF=0.389;MQ=60.00;MQRankSum=0.00;QD=3.64;ReadPosRankSum=3.40;SOR=10.008	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,11:149:12:0|1:106010659_C_G:12,0,5625:106010659	5	0	4	12
chr11	108498339	108498339	G	T	exonic	POGLUT3	.	nonsynonymous SNV	POGLUT3:NM_001363502:exon1:c.C28A:p.L10M	.	.	426	1082	13	1	0	15	0.00688389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.984	D	0.69	P	0.207	U	1.000	D	1.59	L	2.05	T	-1.108	T	0.067	T	0.287	3.347	17.27	2.12	0.847	0.591	9.616	0.060	.	.	0.00539137	0.0325	0	0	0	.	0	0	0.0381	0.001009	156	154602	rs533719914	0.0014	0.0014	0.0009	0.0019	0.0237	0.0013	0.0013	0.0226	0.0221	4.222e-05	0.0013	0.0004	0	0	0.0065	0.0004	0.0016	0.0237	0.0011	0.0011	0.0006	0.0016	0.0186	0.0009	0.0009	0.0155	0.0144	0.0002	0	0.0014	0.0020	0.0002	0	0.0103	0.0004	0.0033	0.0186	0.071	0.35165	T	0.101	0.38596	T	0.984	0.60733	D	0.69	0.53781	P	0.207057	0.16457	U	0.343629	0.58492	0.32406	D	.	.	.	2.05	0.20664	T	-0.33	0.12472	N	0.379	0.42050	-1.1077	0.03274	T	0.067	0.27606	T	10	0.003556937	0.00064	T	.	.	.	0.060	0.17295	0.378	0.39319	0.29132392195	0.28731	0.34091647280951937	0.34004	0.171698961565	0.19340	0.827331900597	0.86154	D	0.003259	0.02667	T	-0.442827	0.01245	T	-0.379591	0.35771	T	0.0734342214961868	0.09124	T	0.285971	0.05105	T	0.073757276	0.16503	0.10466809	0.25145	0.073757276	0.16502	0.10466809	0.25144	-9.87	0.73130	D	.	.	0.187	0.40424	B	.	.	3.068732	0.41238	21.3	0.95307938972839013	0.26636	0.39234	0.26167	N	ALL	0.054998	0.10047	N	-0.139619871753622	0.35679	2.052368	-0.290475841672583	0.28410	1.583962	0.999999999992173	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.47417	0.07244	0	0.372554	0.06265	0	.	.	3.03	2.12	0.26372	0.641000	0.24411	5.822000	0.50091	0.500000	0.22704	0.223000	0.24568	1.000000	0.68203	0.820000	0.38637	0.1127:0.0:0.8873:0.0	9.616	0.38854	794	0.45591	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	356.98	34	chr11	108498339	.	G	T	356.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.071;DP=545;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.23;ReadPosRankSum=0.869;SOR=0.724	GT:AD:DP:GQ:PL	0/1:9,13:22:99:371,0,239	20	0	1	0
chr11	108678355	108678355	-	ACTC	exonic	DDX10	.	frameshift insertion	DDX10:NM_004398:exon5:c.578_579insACTC:p.V195Tfs*14,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1193.94	35	chr11	108678355	.	T	TACTC	1193.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.202;DP=750;ExcessHet=0.0000;FS=11.282;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.26;ReadPosRankSum=0.113;SOR=0.991	GT:AD:DP:GQ:PL	0/1:31,31:62:99:1208,0,1209	20	0	1	0
chr11	111723767	111723767	G	A	exonic	SIK2	.	nonsynonymous SNV	SIK2:NM_015191:exon15:c.G2419A:p.G807S,	.	.	430	1081	11	0	0	11	0.00506213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.94	T	0.0	B	0.001	B	0.613	N	1.000	N	1.1	L	1.97	T	-0.990	T	0.035	T	0.13	-0.848	0.554	0.955	0.153	-0.302	7.931	0.024	0.0092603941078	0.0002	0.00179712	0.0005	9.716e-05	8.663e-05	0	0	0.0001	0	0.0032	0.0005175	80	154602	rs145172527	0.0002	0.0002	0.0002	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	8.961e-05	0	0	0	1.878e-05	0.0005	6.655e-05	0.0004	0.0027	0.0002	0.0002	0.0002	0.0001	0.0025	0.0001	8.716e-05	0.0014	0.0011	9.628e-05	0	0	0	0	0	0.0034	8.82e-05	0	0.0025	0.697	0.04213	T	0.552	0.09361	T	0.0	0.02946	B	0.001	0.04355	B	0.613003	0.05711	N	1.235210	1	0.08975	N	0	0.06538	N	1.97	0.22067	T	0.1	0.05810	N	0.057	0.02861	-0.9898	0.32652	T	0.035	0.15291	T	10	0.00350219	0.00063	T	0.00926	0.24319	T	0.024	0.04979	.	.	0.138757226776	0.13463	0.1688466948677255	0.16804	0.269153642095	0.29430	0.443144619465	0.31007	T	0.099592	0.40455	T	-0.670592	0.00055	T	-0.7394	0.03916	T	0.00788493444768202	0.00093	T	0.483452	0.14697	T	0.025775414	0.01554	0.036470063	0.03101	0.025775414	0.01554	0.036470063	0.03101	-1.485	0.01734	T	.	.	0.068	0.02702	B	.	.	-0.024680	0.04115	0.974	0.58464042281808426	0.05999	0.05760	0.11690	N	AEFDBI	0.125721	0.24235	N	-1.25494775481599	0.04234	0.1907243	-1.25604041831453	0.05042	0.2393266	0.97265570304009	0.29389	0.562547	0.31514	0	0.577304	0.33150	0	0.651303	0.49530	0	0.635551	0.53088	0	.	.	4.98	0.955	0.18725	-0.019000	0.12487	1.974000	0.30001	-0.864000	0.02607	0.000000	0.06391	0.834000	0.27239	0.011000	0.09372	0.3456:0.0:0.6544:0.0	7.931	0.29061	98	0.95963	.	.	.	.	.	.	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	0.02381	1058.98	33	chr11	111723767	.	G	A	1058.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.06;DP=831;ExcessHet=0.0000;FS=2.435;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.54;ReadPosRankSum=0.154;SOR=0.969	GT:AD:DP:GQ:PL	0/1:80,44:124:99:1073,0,2066	20	0	1	0
chr11	117918602	117918604	TGG	0	exonic	TMPRSS13	.	.	.	.	.	455	112	9	0	946	955	0.0386266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	2892.83	147	chr11	117918602	.	TGG	T,*	2892.83	.	AC=1,33;AF=0.024,0.786;AN=42;DP=4072;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=1,33;MLEAF=0.024,0.786;MQ=60.00;QD=1.03;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,138:138:99:.:.:6080,6080,6080,425,425,0	1	0	0	0
chr11	117918605	117918618	AGATGCCTGGGCTG	0	exonic	TMPRSS13	.	.	.	.	.	453	114	9	0	946	955	0.0379747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	2883.83	147	chr11	117918605	.	AGATGCCTGGGCTG	A,*	2883.83	.	AC=1,33;AF=0.024,0.786;AN=42;DP=4040;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=1,33;MLEAF=0.024,0.786;MQ=59.94;QD=1.03;SOR=0.656	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,138:138:99:.:.:6080,6080,6080,425,425,0	1	0	0	0
chr11	119027660	119027660	T	A	exonic	SLC37A4	.	nonsynonymous SNV	SLC37A4:NM_001164280:exon4:c.A593T:p.N198I	Glycogen storage disease Ib, Autosomal recessive;Glycogen storage disease Ic, Autosomal recessive	YES	0	1520	2	0	0	2	0.000657462	.	.	142891	not_specified|Glucose-6-phosphate_transport_defect|not_provided	MedGen:CN169374|MONDO:MONDO:0009288,MedGen:C0268146,OMIM:232220,Orphanet:364,Orphanet:79259|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0552142501722	0.0045	0.00239617	0.0036	0.0015	0.0042	0	0.0014	0.0054	0.0056	0.0002	0.0036934	571	154602	rs34203644	0.0050	0.0050	0.0051	0.0049	0.0059	0.0049	0.0049	0.0058	0.0058	0.0009	0.0052	0.0033	0	0.0012	0.0007	0.0059	0.0049	0.0003	0.0039	0.0039	0.0040	0.0037	0.0080	0.0036	0.0035	0.0068	0.0064	0.0011	0	0.0080	0.0037	0.0002	0.0008	0	0.0057	0.0047	0.0002	.	.	.	0.012	0.64786	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	0.80767	.	.	.	.	.	.	.	0.015274823	0.00321	T	0.055214	0.66150	D	.	.	.	.	0.579463755994	0.57616	0.7255319220428349	0.72497	0.0879410634102	0.09929	0.548644661903	0.45666	T	0.39812	0.75713	T	-0.0442598	0.45316	T	0.167373	0.81253	D	.	.	.	0.90351	0.66162	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.35951	B	.;.;.;.	.;.;.;.	3.467044	0.48348	22.6	0.85434280017370734	0.15890	0.94848	0.62539	D	AEFDBCI	0.789781	0.71887	D	.	.	.	.	.	.	0.99999999469522	0.74766	0.256867	0.04430	0	0.271743	0.05004	0	0.320204	0.05785	0	0.375513	0.06772	0	.	.	5.17	5.17	0.70848	3.772000	0.55034	6.210000	0.55001	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.910000	0.44547	0.0:0.0:0.0:1.0	15.173	0.72571	248	0.90287	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1015.98	36	chr11	119027660	.	T	A	1015.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.296;DP=881;ExcessHet=0.0000;FS=0.783;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.69;ReadPosRankSum=0.243;SOR=0.553	GT:AD:DP:GQ:PL	0/1:52,43:95:99:1030,0,1311	20	0	1	0
chr11	123943013	123943013	C	T	exonic	OR6T1	.	nonsynonymous SNV	OR6T1:NM_001005187:exon1:c.G826A:p.V276I,	.	.	433	1016	68	5	0	78	0.0369668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.747	P	0.179	B	.	.	1.000	N	1.13	L	8.44	T	-1.073	T	0.000	T	0.038	0.122	4.658	1.72	0.201	-0.420	1.932	0.060	.	0.0065	0.0081869	0.0100	0.0008	0.0065	0	0.0012	0.0097	0.0209	0.0280	0.009269	1433	154602	rs139333041	0.0087	0.0087	0.0079	0.0094	0.0477	0.0085	0.0085	0.0430	0.0412	0.0022	0.0061	0.0136	2.519e-05	0.0012	0.0477	0.0077	0.0107	0.0283	0.0068	0.0068	0.0070	0.0066	0.0274	0.0065	0.0063	0.0236	0.0222	0.0011	0.0011	0.0103	0.0138	0.0006	0.0014	0.0408	0.0088	0.0114	0.0274	0.203	0.20154	T	0.203	0.27325	T	0.747	0.43174	P	0.179	0.35808	B	.	.	.	.	1	0.08975	N	0.84	0.21119	L	8.44	0.00229	T	-0.55	0.16799	N	0.035	0.01004	-1.0733	0.08702	T	0.000	0.00075	T	9	0.010153651	0.00227	T	.	.	.	0.060	0.17295	.	.	.	.	0.0191124744557639	0.01865	0.0491267032822	0.05371	0.189285472035	0.00213	T	0.004397	0.03807	T	-0.759818	0.00015	T	-0.843253	0.01051	T	0.00305530430589814	0.00032	T	0.328667	0.06851	T	0.04899516	0.08630	0.032111116	0.01896	0.04899516	0.08629	0.032111116	0.01896	-4.387	0.29381	T	.	.	0.080	0.07937	B	.	.	-0.036252	0.04038	0.931	0.96464211205943551	0.29911	0.10409	0.15924	N	AEFI	0.064385	0.12500	N	-0.838860823313599	0.12325	0.6000964	-0.963892808539815	0.10602	0.5350243	2.32834928764527E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.7	1.72	0.23498	-1.643000	0.02106	-4.186000	0.02293	-0.231000	0.07715	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.2019:0.4776:0.1968:0.1236	1.932	0.03128	883	0.28872	GPCR, rhodopsin-like, 7TM	.	.	HEPACAM	Adipose_Subcutaneous	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	3534.98	34	chr11	123943013	.	C	T	3534.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.841;DP=999;ExcessHet=0.0000;FS=3.364;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=-8.560e-01;SOR=0.909	GT:AD:DP:GQ:PL	0/1:127,142:269:99:3549,0,2987	20	0	1	0
chr11	130428225	130428225	-	GCA	exonic	ADAMTS8	.	nonframeshift insertion	ADAMTS8:NM_007037:exon1:c.61_62insTGC:p.L21_P22insL,	.	.	0	41	77	64	44	249	0.714286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	8760.77	19	chr11	130428222	.	GGCA	G,GGCAGCA	8760.77	.	AC=21,6;AF=0.500,0.143;AN=42;BaseQRankSum=0.204;DP=554;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=21,6;MLEAF=0.500,0.143;MQ=60.00;MQRankSum=0.00;QD=28.54;ReadPosRankSum=0.132;SOR=0.702	GT:AD:DP:GQ:PL	1/1:0,10,0:10:30:450,30,0,450,30,450	3	7	5	0
chr12	2888137	2888137	T	G	exonic	RHNO1	.	nonsynonymous SNV	RHNO1:NM_001252499:exon3:c.T395G:p.L132R	.	.	428	1083	11	0	0	11	0.00505282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.997	D	0.925	D	0.310	N	1.000	D	.	.	.	.	-0.783	T	0.261	T	0.401	3.738	18.98	5.21	2.088	1.524	8.825	0.113	0.0112099977237	0.0005	0.000399361	0.0003	0	0.0003	0.0001	0	0.0005	0	0.0004	0.0003169	49	154602	rs139680365	0.0003	0.0003	0.0003	0.0003	0.0066	0.0003	0.0003	0.0049	0.0044	8.962e-05	0.0003	3.827e-05	0	1.872e-05	0.0066	0.0003	0.0005	0.0005	0.0003	0.0003	0.0004	0.0003	0.0010	0.0003	0.0002	0.0005	0.0004	2.406e-05	0	0.0001	0	0	0	0	0.0006	0.0009	0.0010	0.433	0.09927	T	0.046	0.49120	D	0.997	0.70673	D	0.925	0.65999	D	0.309933	0.14451	N	0.675752	0.995376	0.81001	N	1.895	0.50365	L	.	.	.	-1.78	0.42001	N	0.376	0.41754	-0.7830	0.56132	T	0.261	0.63186	T	8	0.06414983	0.08464	T	0.01121	0.28600	T	0.113	0.31778	.	.	0.390687800842	0.38684	0.20644503416910384	0.20561	0.524498172244	0.50131	0.382500052452	0.22611	T	0.018686	0.15018	T	-0.271487	0.11591	T	-0.285018	0.46288	T	0.0611506254065852	0.07349	T	0.711029	0.32195	T	0.057298496	0.11385	0.098517016	0.23490	0.057298496	0.11385	0.098517016	0.23489	-4.611	0.32310	T	.	.	0.234	0.46779	B	.;.;.	.;.;.	3.607112	0.50976	23.0	0.99697389010517978	0.80385	0.67197	0.33346	D	AEFBCI	0.202921	0.32948	N	0.405450104065174	0.61721	4.377134	0.413607627013187	0.62410	4.456111	0.867216748348565	0.25342	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.21	5.21	0.72005	1.554000	0.35873	4.957000	0.46318	0.665000	0.62972	0.917000	0.31872	1.000000	0.68203	0.998000	0.85391	0.1672:0.0:0.0:0.8328	8.825	0.34206	851	0.35303	.;.;.	.	.	.	.	.	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	0.02381	2561.98	38	chr12	2888137	.	T	G	2561.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.487e+00;DP=1078;ExcessHet=0.0000;FS=0.503;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.81;ReadPosRankSum=1.20;SOR=0.763	GT:AD:DP:GQ:PL	0/1:104,113:217:99:2576,0,2633	20	0	1	0
chr12	4591261	4591261	G	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.G81C:p.K27N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.418	B	0.122	B	0.121	N	1.000	N	1.7	L	-0.07	T	-0.998	T	0.134	T	0.063	0.770	8.072	-2.7	-0.238	-0.480	5.450	0.029	0.0114393036777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.479e-06	0.0002	5.452e-06	5.506e-06	1.16e-05	2.36e-06	1.7e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.303e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.13834	T	0.401	0.14961	T	0.346	0.33564	B	0.084	0.29270	B	0.121393	0.18998	N	0.456574	1	0.08975	N	1.725	0.44537	L	-0.08	0.63911	T	0.73	0.02068	N	0.144	0.14480	-0.9982	0.30423	T	0.134	0.44720	T	10	0.07988778	0.12903	T	0.011439	0.29067	T	0.029	0.06676	0.269	0.21735	0.558735321446	0.55534	0.18653166389102285	0.18571	0.09495456672	0.10722	0.417934507132	0.27553	T	9.22E-4	0.00478	T	-0.259265	0.12987	T	-0.610193	0.11969	T	0.123014807701111	0.14722	T	0.59544	0.22079	T	0.04078166	0.05886	0.040100157	0.04256	0.04078166	0.05886	0.040100157	0.04256	-4.202	0.26780	T	.	.	0.104	0.18869	B	.;.;.	.;.;.	0.165782	0.05554	2.014	0.79475724993608643	0.12759	0.01358	0.04650	N	AEFDBI	0.066344	0.12987	N	-1.06848562840135	0.07230	0.3352268	-1.19599880480459	0.05976	0.2863112	2.00585938924982E-4	0.05898	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-2.7	0.05651	-0.445000	0.06918	0.067000	0.14209	-0.678000	0.04252	0.001000	0.13787	0.000000	0.08366	0.446000	0.27806	0.499:0.1481:0.3529:0.0	5.450	0.15851	834	0.38640	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4286	4735.5	83	chr12	4591261	.	G	C	4735.5	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-2.041e+00;DP=1832;ExcessHet=30.0624;FS=292.214;InbreedingCoeff=-0.7498;MLEAC=18;MLEAF=0.429;MQ=60.00;MQRankSum=0.00;QD=3.39;ReadPosRankSum=0.900;SOR=12.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:54,44:103:99:.:.:603,0,712	3	0	18	0
chr12	4591262	4591262	T	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.T82C:p.S28P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.0	B	0.0	B	0.236	N	1.000	N	-0.805	N	-0.1	T	-1.084	T	0.068	T	0.059	0.995	9.062	-3.92	-0.512	-0.125	0.780	0.089	0.00440886597753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.577e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374	0.11406	T	0.313	0.19539	T	0.0	0.02946	B	0.0	0.01387	B	0.235795	0.03549	N	1.561320	1	0.08975	N	-0.805	0.01590	N	-0.1	0.64264	T	-0.27	0.11366	N	0.079	0.05414	-1.0842	0.06553	T	0.068	0.27743	T	10	0.039215803	0.02395	T	0.004409	0.10781	T	0.089	0.25827	0.325	0.30711	0.42526943336	0.42144	0.11389244541155054	0.11317	0.101335283325	0.11470	0.327304363251	0.14527	T	7.42E-4	0.00347	T	-0.283232	0.10329	T	-0.644619	0.09335	T	0.190787822008133	0.19891	T	0.451055	0.13062	T	0.044260852	0.07044	0.05666178	0.10162	0.044260852	0.07043	0.05666178	0.10161	-3.8	0.20805	T	.	.	0.055	0.00397	B	.;.;.	.;.;.	0.139343	0.05334	1.822	0.72541810839383536	0.10010	0.00255	0.01401	N	AEFDBI	0.036495	0.04872	N	-1.57976836352683	0.01369	0.0596469	-1.57847201873377	0.01787	0.08134935	5.90958891872362E-4	0.07390	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-3.92	0.03880	-0.110000	0.10794	-0.393000	0.09462	-0.181000	0.10308	0.001000	0.13787	0.000000	0.08366	0.483000	0.28633	0.3313:0.3776:0.1218:0.1694	0.780	0.00973	834	0.38640	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	304.11	40	chr12	4591262	.	T	C	304.11	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-3.075e+00;DP=1456;ExcessHet=1.7912;FS=131.276;InbreedingCoeff=-0.1677;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=0.62;ReadPosRankSum=1.08;SOR=10.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:76,27:103:96:.:.:96,0,1875	15	0	6	0
chr12	5744308	5744308	C	T	exonic	ANO2	.	nonsynonymous SNV	ANO2:NM_001278596:exon12:c.G1203A:p.M401I	.	.	431	1087	3	1	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.285	B	0.155	B	0.000	D	1.000	D	-0.475	N	0.19	T	-1.020	T	0.023	T	0.241	0.610	7.285	5.25	2.619	5.152	18.203	0.130	.	0.0002	0.0145767	0.0059	0.0004	0.0410	0.0243	0	0.0002	0.0067	0.0005	0.0061383	949	154602	rs17788563	0.0024	0.0024	0.0025	0.0023	0.0417	0.0023	0.0023	0.0401	0.0395	0.0004	0.0417	0.0009	0.0302	0	0.0007	0.0001	0.0033	0.0009	0.0050	0.0050	0.0043	0.0057	0.0361	0.0047	0.0046	0.0336	0.0326	0.0004	0	0.0361	0.0009	0.0282	0	0	0.0003	0.0052	0.0019	0.973	0.02039	T	1.0	0.01155	T	.	.	.	.	.	.	0.000000	0.84330	D	0.075144	0.999998	0.58761	D	.	.	.	0.19	0.60236	T	-1.48	0.36189	N	0.218	0.25745	-1.0197	0.23812	T	0.023	0.09696	T	10	0.009018868	0.00204	T	.	.	.	0.130	0.35528	.	.	0.261217442401	0.25729	0.4313143766597711	0.43048	0.383352055737	0.39662	0.57566100359	0.49474	T	0.095288	0.39589	T	-0.463724	0.00931	T	-0.409607	0.32270	T	0.0496943336848909	0.05446	T	0.938506	0.76886	D	.	.	.	.	.	.	.	.	-5.517	0.42027	T	.	.	0.678	0.72066	P	.;.;.	.;.;.	3.845110	0.55667	23.6	0.82424548087909266	0.14185	0.93431	0.58198	D	AEFBI	0.725708	0.67461	D	-0.19560152087579	0.33316	1.88882	0.0435887377717469	0.41763	2.514507	0.999999758803633	0.74766	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.636168	0.56350	0	.	.	5.25	5.25	0.73169	4.247000	0.58542	7.550000	0.60255	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	18.203	0.89779	913	0.21160	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1366.98	34	chr12	5744308	.	C	T	1366.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.690e-01;DP=833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.94;ReadPosRankSum=0.045;SOR=0.708	GT:AD:DP:GQ:PL	0/1:66,59:125:99:1381,0,1610	20	0	1	0
chr12	6667913	6667918	TGCTGC	-	exonic	ZNF384	.	nonframeshift deletion	ZNF384:NM_001039920:exon9:c.1182_1187del:p.Q399_Q400del	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	0/2:23,0,29,0,0:52:99:964,1033,1909,0,876,787,1033,1909,876,1909,1033,1909,876,1909,1909	0	0	0	0
chr12	6667916	6667918	TGC	-	exonic	ZNF384	.	nonframeshift deletion	ZNF384:NM_001039920:exon9:c.1182_1184del:p.Q400del	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	0/2:23,0,29,0,0:52:99:964,1033,1909,0,876,787,1033,1909,876,1909,1033,1909,876,1909,1909	0	0	0	0
chr12	6667918	6667918	-	TGC	exonic	ZNF384	.	nonframeshift insertion	ZNF384:NM_001039920:exon9:c.1181_1182insGCA:p.Q400_P401insQ	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	0/2:23,0,29,0,0:52:99:964,1033,1909,0,876,787,1033,1909,876,1909,1033,1909,876,1909,1909	0	0	0	0
chr12	6667904	6667918	TGCTGCTGCTGCTGC	-	exonic	ZNF384	.	nonframeshift deletion	ZNF384:NM_001039920:exon9:c.1182_1196del:p.Q396_Q400del	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169898408	0.0003	0.0004	0.0003	0.0004	0.0008	0.0003	0.0003	0.0006	0.0006	0.0004	0.0003	3.944e-05	0.0002	0	0.0004	0.0003	0.0004	0.0008	0.0002	0.0002	0.0002	0.0002	0.0013	0.0002	0.0001	0.0006	0.0004	0.0002	0	0	0	0	0	0.0035	0.0003	0	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	0/2:23,0,29,0,0:52:99:964,1033,1909,0,876,787,1033,1909,876,1909,1033,1909,876,1909,1909	0	0	0	0
chr12	6936749	6936749	-	CAG	exonic	ATN1	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1482_1483insCAG:p.Q502_H503insQ	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	5/5:0,0,0,0,0,26,0:52:99:.:.:1504,1362,1329,1362,1329,1329,1362,1329,1329,1329,1362,1329,1329,1329,1329,113,112,112,112,112,0,1362,1329,1329,1329,1329,112,1329	1	0	2	0
chr12	6936749	6936749	-	CAGCAG	exonic	ATN1	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1482_1483insCAGCAG:p.Q502_H503insQQ	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	5/5:0,0,0,0,0,26,0:52:99:.:.:1504,1362,1329,1362,1329,1329,1362,1329,1329,1329,1362,1329,1329,1329,1329,113,112,112,112,112,0,1362,1329,1329,1329,1329,112,1329	1	0	2	0
chr12	6936747	6936749	CAG	-	exonic	ATN1	.	nonframeshift deletion	ATN1:NM_001007026:exon5:c.1480_1482del:p.Q502del	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	5/5:0,0,0,0,0,26,0:52:99:.:.:1504,1362,1329,1362,1329,1329,1362,1329,1329,1329,1362,1329,1329,1329,1329,113,112,112,112,112,0,1362,1329,1329,1329,1329,112,1329	1	0	2	0
chr12	6936749	6936749	-	CAGCAGCAG	exonic	ATN1	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1482_1483insCAGCAGCAG:p.Q502_H503insQQQ	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	5/5:0,0,0,0,0,26,0:52:99:.:.:1504,1362,1329,1362,1329,1329,1362,1329,1329,1329,1362,1329,1329,1329,1329,113,112,112,112,112,0,1362,1329,1329,1329,1329,112,1329	1	0	2	0
chr12	6936741	6936749	CAGCAGCAG	-	exonic	ATN1	.	nonframeshift deletion	ATN1:NM_001007026:exon5:c.1474_1482del:p.Q500_Q502del	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	5/5:0,0,0,0,0,26,0:52:99:.:.:1504,1362,1329,1362,1329,1329,1362,1329,1329,1329,1362,1329,1329,1329,1329,113,112,112,112,112,0,1362,1329,1329,1329,1329,112,1329	1	0	2	0
chr12	9202332	9202332	G	C	exonic	PZP	.	nonsynonymous SNV	PZP:NM_002864:exon4:c.C467G:p.P156R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	U	1.000	N	3.945	H	-0.79	T	-0.319	T	0.607	D	0.568	2.205	13.33	0.437	0.115	1.748	2.818	0.359	0.00617761848461	.	.	8.253e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs754952632	6.157e-06	6.156e-06	9.53e-06	2.75e-06	0.0002	2.9e-06	2.1e-06	9.89e-06	3.7e-06	5.974e-05	0	0	0	0	0.0002	4.497e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.002	0.79402	D	1.0	0.90584	D	0.997	0.86255	D	0.000070	0.52346	U	0.000000	1	0.08975	N	4.34	0.98424	H	-0.79	0.73739	T	-7.4	0.94758	D	0.476	0.51137	-0.3185	0.74464	T	0.607	0.86059	D	10	0.95252395	0.94595	D	0.006178	0.16200	T	0.359	0.67962	0.853	0.95376	0.802757436706	0.80091	0.6144067797777206	0.61372	0.473242482484	0.46558	0.366369247437	0.20310	T	0.606277	0.87455	D	0.0417684	0.57277	T	-0.162293	0.58145	T	0.97683048248291	0.71561	D	0.867113	0.56785	D	0.44625232	0.63803	0.32674918	0.58579	0.44625232	0.63804	0.32674918	0.58578	-9.199	0.68968	D	.	.	0.545	0.66583	A	.	.	2.713378	0.35474	19.91	0.99593800267610244	0.73748	0.40342	0.26415	N	AEFGI	0.063425	0.12255	N	0.161326964486996	0.49351	3.136344	-0.154984337170435	0.33217	1.897808	7.16102092360667E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.44	0.437	0.15767	1.831000	0.38781	3.309000	0.37448	0.509000	0.23192	0.837000	0.30238	1.000000	0.68203	0.557000	0.30341	0.1627:0.0:0.5628:0.2745	2.818	0.05128	661	0.61838	Alpha-2-macroglobulin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1162.98	37	chr12	9202332	.	G	C	1162.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.727e+00;DP=820;ExcessHet=0.0000;FS=0.681;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.86;ReadPosRankSum=1.33;SOR=0.776	GT:AD:DP:GQ:PL	0/1:65,53:118:99:1177,0,1766	20	0	1	0
chr12	11030966	11030966	T	C	exonic	TAS2R31	.	nonsynonymous SNV	TAS2R31:NM_176885:exon1:c.A370G:p.R124G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.988	D	0.93	D	.	.	1.000	N	3.8	H	5.15	T	-1.083	T	0.026	T	0.478	2.418	14.04	2.45	1.132	1.336	6.718	0.056	0.00119046517766	.	.	0.0001	0	8.642e-05	0	0	0.0001	0.0011	0.0001	0.0001035	16	154602	rs753392571	1.095e-05	0.0001	5.446e-06	1.651e-05	0.0003	6.48e-06	5.25e-06	6.098e-05	2.523e-05	0	4.474e-05	0	0	0	0.0003	8.995e-06	0	2.321e-05	6.565e-05	0.0002	0.0001	2.685e-05	0.0002	3.514e-05	2.614e-05	5.843e-05	4.24e-05	0	0	0	0	0	0	0	0.0001	0.0005	0.0002	0.001	0.78490	D	0.002	0.79402	D	0.988	0.62325	D	0.93	0.66466	D	.	.	.	.	1	0.08975	N	3.735	0.94896	H	5.15	0.01198	T	-5.06	0.82764	D	0.366	0.40765	-1.0827	0.06833	T	0.026	0.11176	T	9	0.45544392	0.58960	T	0.00119	0.01533	T	0.056	0.15993	.	.	0.286081765059	0.28222	0.25282699369531747	0.25196	0.086034435978	0.09718	0.272564709187	0.06477	T	0.076572	0.35450	T	-0.0944853	0.37336	T	-0.373498	0.36481	T	0.860414803028107	0.51089	D	.	.	.	0.5174096	0.68111	0.5337118	0.73056	0.5174096	0.68112	0.5337118	0.73057	-8.51	0.64495	D	.	.	0.165	0.36455	B	.	.	3.271496	0.44781	22.0	0.97077317732305402	0.32264	0.03887	0.09259	N	AEFBI	0.058880	0.11081	N	0.0153905718956789	0.42555	2.566264	-0.301177396634361	0.28061	1.56165	4.5286316145239E-4	0.07036	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.645665	0.59343	0	.	.	2.45	2.45	0.28953	2.421000	0.44343	-0.140000	0.11527	0.502000	0.22824	0.020000	0.19661	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	6.718	0.22504	946	0.12043	.	.	.	.	.	.	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	0.02381	647.98	345	chr12	11030966	.	T	C	647.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.167e+00;DP=6288;ExcessHet=0.0000;FS=5.656;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.71;MQRankSum=-1.144e+01;QD=2.62;ReadPosRankSum=0.654;SOR=0.471	GT:AD:DP:GQ:PL	0/1:212,35:247:99:662,0,5929	20	0	1	0
chr12	11092054	11092054	A	C	exonic	TAS2R43	.	nonsynonymous SNV	TAS2R43:NM_176884:exon1:c.T176G:p.L59R,	.	.	438	1059	25	0	0	25	0.0116659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	N	3.845	H	5.52	T	-1.068	T	0.020	T	0.672	1.856	12.17	1.97	0.902	1.323	5.865	0.097	0.000676087455412	0.0011	.	0.0026	0.0025	0.0019	0	0.0002	0.0035	0	0.0024	0.0024385	377	154602	rs199546416	0.0014	0.0063	0.0013	0.0016	0.0027	0.0014	0.0014	0.0017	0.0016	0.0006	0.0019	0.0014	0	0.0004	0.0027	0.0015	0.0012	0.0020	0.0041	0.0088	0.0040	0.0041	0.0051	0.0038	0.0037	0.0044	0.0042	0.0034	0.0138	0.0051	0.0059	0	0.0010	0.0037	0.0049	0.0028	0.0041	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.08975	N	3.78	0.95251	H	5.52	0.00903	T	-5.86	0.88561	D	0.751	0.75009	-1.0677	0.09926	T	0.020	0.08313	T	9	0.07676786	0.12033	T	6.76E-4	0.00383	T	0.097	0.27909	.	.	0.392239652056	0.38839	0.44651251719554647	0.44569	0.638325900956	0.57558	0.372237861156	0.21153	T	0.089147	0.38311	T	-0.00860295	0.50460	T	-0.250134	0.49803	T	0.225228488445282	0.21722	T	0.949205	0.80472	D	0.75837773	0.81358	0.6548802	0.79795	0.75837773	0.81359	0.6548802	0.79796	-9.046	0.67993	D	.	.	0.321	0.54609	B	.	.	2.448962	0.31530	18.77	0.99561732332247965	0.71831	0.02054	0.06135	N	AEFI	0.046242	0.07655	N	0.0533148695102071	0.44294	2.706165	-0.269043779314605	0.29123	1.629217	3.01214840759549E-5	0.03498	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.97	1.97	0.25278	1.889000	0.39352	1.309000	0.25526	0.399000	0.20540	0.021000	0.19753	0.000000	0.08366	0.007000	0.07825	1.0:0.0:0.0:0.0	5.865	0.18019	946	0.12043	.	.	.	.	.	.	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	0.02381	349.98	123	chr12	11092054	.	A	C	349.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.490e-01;DP=1831;ExcessHet=0.0000;FS=7.166;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.60;MQRankSum=-1.136e+01;QD=2.67;ReadPosRankSum=1.65;SOR=1.683	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,17:131:99:0|1:11092047_T_C:364,0,4533:11092047	20	0	1	0
chr12	11092088	11092088	G	0	exonic	TAS2R43	.	.	.	.	.	456	371	599	79	17	774	0.505003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	5986.12	144	chr12	11092088	.	G	C,*	5986.12	.	AC=17,3;AF=0.405,0.071;AN=42;BaseQRankSum=-1.327e+00;DP=2170;ExcessHet=8.0185;FS=6.574;InbreedingCoeff=-0.3364;MLEAC=17,3;MLEAF=0.405,0.071;MQ=56.75;MQRankSum=-8.550e+00;QD=3.41;ReadPosRankSum=1.78;SOR=1.189	GT:AD:DP:GQ:PL	0/2:59,19,64:142:99:2421,2045,3832,0,1368,2526	4	3	11	0
chr12	11133887	11133887	G	A	exonic	TAS2R30	.	nonsynonymous SNV	TAS2R30:NM_001097643:exon1:c.C358T:p.R120C,	.	.	420	1087	15	0	0	15	0.00685244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.064	B	0.022	B	.	.	1.000	N	0.915	L	5.77	T	-0.945	T	0.002	T	0.34	0.773	8.084	-2.89	-0.638	-0.575	7.842	0.038	.	0.0012	0.00279553	0.0026	0.0002	0.0006	0.0001	0	0.0016	0.0077	0.0114	0.0021474	332	154602	rs111498087	0.0013	0.0013	0.0009	0.0016	0.0102	0.0012	0.0012	0.0096	0.0094	8.961e-05	0.0008	0.0089	2.519e-05	3.744e-05	0.0099	0.0005	0.0018	0.0102	0.0011	0.0011	0.0010	0.0013	0.0116	0.0010	0.0009	0.0092	0.0083	9.63e-05	0	0.0012	0.0109	0	0	0.0034	0.0008	0.0005	0.0116	0.006	0.61437	D	0.063	0.45110	T	0.064	0.23455	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	5.77	0.00687	T	-2.74	0.58248	D	0.303	0.34228	-0.9446	0.41879	T	0.002	0.00769	T	9	0.0069731474	0.00159	T	.	.	.	0.038	0.09825	.	.	0.0401082797425	0.02173	0.12845158240615942	0.12770	0.0043736921062	0.00387	0.204710185528	0.00607	T	0.025155	0.18867	T	-0.243614	0.14890	T	-0.587711	0.13865	T	0.0145310332832924	0.00297	T	0.578742	0.20864	T	0.15769173	0.35517	0.16547804	0.38280	0.15769173	0.35517	0.16547804	0.38279	-2.912	0.09264	T	.	.	0.09	0.12607	B	.	.	1.222423	0.16164	12.36	0.87613906473598391	0.17354	0.00549	0.02518	N	AEFDBIJ	0.032021	0.03537	N	-1.1646577408448	0.05543	0.2529605	-1.29192008954591	0.04539	0.2143312	0.985699364611607	0.30932	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.7	-2.89	0.05326	-0.895000	0.04226	-11.767000	0.00577	-0.317000	0.05909	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.7074:0.0:0.2926:0.0	7.842	0.28563	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	6862.11	329	chr12	11133887	.	G	A	6862.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.77;DP=3638;ExcessHet=0.1072;FS=0.528;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.89;MQRankSum=1.24;QD=11.40;ReadPosRankSum=-3.600e-02;SOR=0.730	GT:AD:DP:GQ:PL	0/1:150,123:273:99:3281,0,3836	19	0	2	0
chr12	11353413	11353413	G	0	exonic	PRB1	.	.	.	.	.	776	281	207	230	28	695	0.542718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6944	47416.68	201	chr12	11353413	.	G	A,*	47416.68	.	AC=22,3;AF=0.611,0.083;AN=36;BaseQRankSum=1.23;DP=4494;ExcessHet=0.6840;FS=7.239;InbreedingCoeff=0.1429;MLEAC=25,3;MLEAF=0.694,0.083;MQ=49.32;MQRankSum=0.484;QD=21.62;ReadPosRankSum=0.236;SOR=1.326	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,72,0:87:99:0|1:11353413_G_A:2381,0,102,2489,175,2816:11353413	2	8	6	3
chr12	11353469	11353469	A	0	exonic	PRB1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8214	21751.81	201	chr12	11353469	.	A	G,*	21751.81	.	AC=20,3;AF=0.714,0.107;AN=28;BaseQRankSum=1.20;DP=4073;ExcessHet=0.2102;FS=5.613;InbreedingCoeff=0.1459;MLEAC=26,4;MLEAF=0.929,0.143;MQ=51.75;MQRankSum=-5.705e+00;QD=18.93;ReadPosRankSum=-1.910e+00;SOR=1.241	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,29,0:44:99:0|1:11353413_G_A:1122,0,230,1162,174,1306:11353413	0	8	4	7
chr12	12949548	12949564	GGCATTGCCTTGTAAAG	-	exonic	GPRC5D	.	frameshift deletion	GPRC5D:NM_018654:exon1:c.821_837del:p.P274Lfs*24,	.	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0038	0.00119808	0.0035	0.0012	0.0005	0	0.0014	0.0053	0.0011	0.0021	0.000461	12	26028	rs576323196	0.0052	0.0052	0.0053	0.0051	0.0062	0.0051	0.0050	0.0061	0.0061	0.0007	0.0009	0.0010	0	0.0018	0.0040	0.0062	0.0040	0.0020	0.0030	0.0031	0.0033	0.0028	0.0055	0.0028	0.0027	0.0050	0.0049	0.0008	0	0.0009	0.0012	0	0.0017	0.0068	0.0055	0.0047	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3485.94	40	chr12	12949547	.	AGGCATTGCCTTGTAAAG	A	3485.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.600e-02;DP=908;ExcessHet=0.0000;FS=2.537;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.74;ReadPosRankSum=2.06;SOR=0.631	GT:AD:DP:GQ:PL	0/1:93,93:186:99:3500,0,3592	20	0	1	0
chr12	21805301	21805301	G	C	exonic	ABCC9	.	nonsynonymous SNV	ABCC9:NM_005691:exon40:c.C4523G:p.S1508C,	Atrial fibrillation, familial, 12, Autosomal dominant;Cardiomyopathy, dilated, 1O;Hypertrichotic osteochondrodysplasia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.78	P	0.541	P	.	.	1.000	D	2.91	M	-1.63	D	0.499	D	0.642	D	0.726	4.371	23.1	5.06	1.517	9.233	15.023	0.746	0.107305408838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0035	0.0004	0.0004	0.0005	0.0004	0.0004	0.0005	0.0004	0.0004	0	0.0001	5.056e-05	0	0	0.0005	0.0003	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.037	0.51737	D	0.78	0.44271	P	0.541	0.48869	P	.	.	.	.	0.942115	0.81001	D	3.565	0.93411	H	-1.63	0.82440	D	-2.82	0.59545	D	0.861	0.85766	0.499	0.90534	D	0.642	0.87509	D	9	0.86013865	0.85229	D	0.107305	0.78332	D	0.746	0.91242	0.654	0.79172	0.938725009223	0.93809	.	.	.	.	.	.	.	0.837545	0.96181	D	0.236237	0.77305	D	0.101562	0.77011	D	0.965997040271759	0.67442	D	0.819018	0.47665	T	0.19674279	0.41513	0.22112092	0.46911	0.19674279	0.41513	0.22112092	0.46911	-8.375	0.63599	D	0.10600428853165336	0.08469	0.131	0.28319	B	.;.	.;.	3.249126	0.44386	21.9	0.99414692704072116	0.63453	0.99285	0.93953	D	AEFI	0.920507	0.89258	D	0.684879813253823	0.78641	6.912787	0.691786436055985	0.81756	7.601414	0.91949839964056	0.26603	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.95	5.06	0.67838	9.363000	0.96541	10.001000	0.83042	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.8578:0.1422	15.023	0.71308	709	0.56835	ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1818	287.35	50	chr12	21805301	.	G	C	287.35	.	AC=4;AF=0.182;AN=22;BaseQRankSum=-9.290e-01;DP=837;ExcessHet=0.6776;FS=112.828;InbreedingCoeff=-0.2768;MLEAC=6;MLEAF=0.273;MQ=60.00;MQRankSum=0.00;QD=1.56;ReadPosRankSum=1.14;SOR=9.000	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,7:32:20:0|1:21805301_G_C:20,0,644:21805301	7	0	4	10
chr12	40482890	40482890	T	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	33722.39	1039	chr12	40482890	.	T	A,*	33722.39	.	AC=5,6;AF=0.208,0.250;AN=24;BaseQRankSum=0.827;DP=22349;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.5849;MLEAC=7,8;MLEAF=0.292,0.333;MQ=57.60;MQRankSum=-2.364e+01;QD=2.90;ReadPosRankSum=3.73;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:619,0,330:949:99:.:.:11452,13314,37529,0,24215,23164	1	0	5	9
chr12	40483015	40483015	A	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	481509.55	1118	chr12	40483015	.	A	G,*	481509.55	.	AC=32,2;AF=0.762,0.048;AN=42;BaseQRankSum=-3.082e+00;DP=19979;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=32,2;MLEAF=0.762,0.048;MQ=59.68;MQRankSum=0.00;QD=26.76;ReadPosRankSum=0.264;SOR=0.666	GT:AD:DP:GQ:PL	1/1:0,900,0:900:99:29986,2702,0,29986,2702,29986	1	12	6	0
chr12	40483068	40483068	G	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	356058.34	934	chr12	40483068	.	G	A,*	356058.34	.	AC=26,1;AF=0.619,0.024;AN=42;BaseQRankSum=2.01;DP=18690;ExcessHet=0.1361;FS=0.637;InbreedingCoeff=0.2741;MLEAC=26,1;MLEAF=0.619,0.024;MQ=59.71;MQRankSum=0.00;QD=24.52;ReadPosRankSum=0.509;SOR=0.620	GT:AD:DP:GQ:PL	0/1:430,464,0:894:99:13061,0,11593,14351,12986,27337	4	9	7	0
chr12	40483220	40483220	T	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	543	941	36	2	0	40	0.0208117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0603377376754	.	0.00439297	.	.	.	.	.	.	.	.	0.0026894	70	26028	rs144440388	0.0013	0.0008	0.0013	0.0014	0.0111	0.0013	0.0013	0.0098	0.0093	0.0003	0.0020	0.0002	0.0066	0	0.0105	0.0011	0.0033	0.0111	0.0021	0.0021	0.0016	0.0025	0.0142	0.0019	0.0018	0.0115	0.0105	0.0003	0	0.0030	0	0.0097	0	0.0068	0.0018	0.0033	0.0142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.09524	46855.92	623	chr12	40483220	.	T	A	46855.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=4.39;DP=15070;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=59.99;MQRankSum=0.991;QD=14.59;ReadPosRankSum=0.343;SOR=0.743	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:418,406:824:99:0|1:40483220_T_A:14260,0,14691:40483220	17	0	4	0
chr12	40485896	40485896	C	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs926758752	4.8e-06	4.652e-05	4.46e-06	5.197e-06	5.249e-06	1.12e-06	7.6e-07	1.23e-06	8.3e-07	0	0	0	0	0	0	5.249e-06	0	0	0.0003	0.0085	0.0002	0.0003	0.0019	0.0002	0.0002	0.0012	0.0010	5.788e-05	0.0014	0.0019	0	0.0013	0.0001	0	3.66e-05	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2281.11	510	chr12	40485896	.	C	T	2281.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.596e+00;DP=18940;ExcessHet=0.1072;FS=2.086;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.45;MQRankSum=-3.304e+01;QD=1.03;ReadPosRankSum=-4.379e+00;SOR=1.110	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1042,86:1128:99:0|1:40485830_A_G:475,0,43495:40485830	19	0	2	0
chr12	40487346	40487346	A	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	540	947	31	0	4	35	0.0161039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1326292392	0	1.325e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0031	0.0003	0.0003	0.0007	0.0002	0.0002	0.0002	0.0001	0.0001	0	0.0003	0.0004	0	0.0005	0	0.0003	0.0015	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.125	5047.17	783	chr12	40487346	.	A	T	5047.17	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-1.800e-01;DP=23076;ExcessHet=1.1607;FS=22.206;InbreedingCoeff=-0.1507;MLEAC=5;MLEAF=0.125;MQ=56.88;MQRankSum=-2.407e+01;QD=0.77;ReadPosRankSum=2.86;SOR=3.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1495,167:1666:99:.:.:2401,0,63638	15	0	5	1
chr12	40487347	40487347	G	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	538	950	30	0	4	34	0.015544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1206361857	0	1.395e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0025	0.0002	0.0002	0.0005	0.0001	0.0001	0.0001	8.09e-05	0.0001	0	0.0002	0.0003	0	0.0003	0	0.0002	0.0011	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	3734.3	783	chr12	40487347	.	G	C	3734.3	.	AC=4;AF=0.100;AN=40;BaseQRankSum=1.57;DP=22988;ExcessHet=0.6776;FS=25.637;InbreedingCoeff=-0.1200;MLEAC=4;MLEAF=0.100;MQ=56.93;MQRankSum=-2.135e+01;QD=0.76;ReadPosRankSum=3.46;SOR=3.802	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1532,169:1703:99:0|1:40487326_C_A:2485,0,63752:40487326	16	0	4	1
chr12	40487354	40487354	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	544	938	36	0	4	40	0.0188285	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1265246174	0	6.857e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0041	0.0004	0.0004	0.0009	0.0003	0.0003	0.0002	0.0002	0.0003	0	0.0005	0.0005	0	0.0007	0	0.0004	0.0027	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1579	6434.31	783	chr12	40487354	.	G	A	6434.31	.	AC=6;AF=0.158;AN=38;BaseQRankSum=6.93;DP=23251;ExcessHet=1.7912;FS=22.206;InbreedingCoeff=-0.2000;MLEAC=6;MLEAF=0.158;MQ=56.97;MQRankSum=-2.438e+01;QD=0.84;ReadPosRankSum=5.99;SOR=3.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1557,180:1737:99:0|1:40487326_C_A:2871,0,64836:40487326	13	0	6	2
chr12	40487370	40487370	C	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	530	937	55	0	0	55	0.0285122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1434790702	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0028	0.0002	0.0002	0.0003	0.0001	0.0001	9.092e-05	6.022e-05	0.0001	0	0.0003	0.0003	0	0.0002	0	0.0001	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07895	6137.83	783	chr12	40487370	.	C	G	6137.83	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.891e+00;DP=22823;ExcessHet=0.3300;FS=24.447;InbreedingCoeff=-0.1053;MLEAC=3;MLEAF=0.079;MQ=57.01;MQRankSum=-2.595e+01;QD=1.57;ReadPosRankSum=5.16;SOR=3.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1545,209:1754:99:0|1:40487326_C_A:4125,0,64245:40487326	16	0	3	2
chr12	40487373	40487373	A	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	536	929	57	0	0	57	0.029765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1199349600	0	5.474e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0029	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	8.547e-05	0.0001	0	0.0003	0.0003	0.0002	0.0002	0	0.0002	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07895	6585.83	783	chr12	40487373	.	A	G	6585.83	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.50;DP=22766;ExcessHet=0.3300;FS=24.447;InbreedingCoeff=-0.1053;MLEAC=3;MLEAF=0.079;MQ=56.97;MQRankSum=-2.636e+01;QD=1.69;ReadPosRankSum=4.60;SOR=3.313	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1536,214:1750:99:0|1:40487326_C_A:4362,0,63852:40487326	16	0	3	2
chr12	40487375	40487375	G	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	533	933	56	0	0	56	0.0291363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1362941780	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0029	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	7.934e-05	0.0001	0	0.0003	0.0003	0.0002	0.0002	0	0.0002	0.0019	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07895	7211.83	783	chr12	40487375	.	G	C	7211.83	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.357e+00;DP=22744;ExcessHet=0.3300;FS=24.462;InbreedingCoeff=-0.1053;MLEAC=3;MLEAF=0.079;MQ=56.88;MQRankSum=-2.661e+01;QD=1.86;ReadPosRankSum=4.55;SOR=3.093	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1529,223:1752:99:0|1:40487326_C_A:4761,0,63531:40487326	16	0	3	2
chr12	40487377	40487377	C	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	537	927	58	0	0	58	0.0303347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1471742152	0	3.832e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0031	0.0002	0.0002	0.0005	0.0002	0.0001	0.0002	0.0001	0.0001	0	0.0004	0.0003	0.0002	0.0002	0	0.0002	0.0020	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07895	7556.83	783	chr12	40487377	.	C	G	7556.83	.	AC=3;AF=0.079;AN=38;BaseQRankSum=4.58;DP=22964;ExcessHet=0.3300;FS=22.540;InbreedingCoeff=-0.1053;MLEAC=3;MLEAF=0.079;MQ=56.82;MQRankSum=-2.697e+01;QD=1.95;ReadPosRankSum=3.94;SOR=2.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1524,227:1751:99:0|1:40487326_C_A:4944,0,63309:40487326	16	0	3	2
chr12	40487388	40487388	C	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	532	936	54	0	0	54	0.0280374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs552463164	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0030	0.0003	0.0002	0.0004	0.0002	0.0002	0.0002	0.0001	0.0001	0	0.0003	0.0003	0.0002	0.0002	0	0.0003	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.08333	7873.97	783	chr12	40487388	.	C	G	7873.97	.	AC=3;AF=0.083;AN=36;BaseQRankSum=1.57;DP=22906;ExcessHet=0.3300;FS=22.540;InbreedingCoeff=-0.1200;MLEAC=3;MLEAF=0.083;MQ=56.89;MQRankSum=-2.874e+01;QD=2.03;ReadPosRankSum=3.90;SOR=2.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1515,233:1748:99:0|1:40487326_C_A:5223,0,62913:40487326	15	0	3	3
chr12	40487403	40487403	G	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	531	933	58	0	0	58	0.0301455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1387815853	0	4.789e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0030	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0002	0.0001	0	0.0005	0.0003	0	0.0002	0	0.0003	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09375	11261.55	783	chr12	40487403	.	G	T	11261.55	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-7.600e+00;DP=23102;ExcessHet=0.3300;FS=12.822;InbreedingCoeff=-0.1507;MLEAC=4;MLEAF=0.125;MQ=56.51;MQRankSum=-2.985e+01;QD=2.89;ReadPosRankSum=0.192;SOR=1.942	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1494,280:1774:99:0|1:40487326_C_A:7260,0,61890:40487326	13	0	3	5
chr12	40487418	40487418	G	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	527	933	62	0	0	62	0.0321577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796103026	0	1.916e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0005	0.0031	0.0005	0.0004	0.0009	0.0004	0.0004	0.0005	0.0004	0.0002	0	0.0009	0.0003	0	0.0004	0	0.0006	0.0020	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	14109.93	783	chr12	40487418	.	G	C	14109.93	.	AC=3;AF=0.100;AN=30;BaseQRankSum=-6.242e+00;DP=23264;ExcessHet=0.3300;FS=6.289;InbreedingCoeff=-0.1667;MLEAC=4;MLEAF=0.133;MQ=55.98;MQRankSum=-3.106e+01;QD=3.60;ReadPosRankSum=-4.119e+00;SOR=1.329	GT:AD:DP:GQ:PL	0/1:1460,341:1806:99:9224,0,61111	12	0	3	6
chr12	40487421	40487421	-	CCCATCAGCTGAAGTGACAGGGCTACCTGGAGTGTCAGCTGGGGTGACAGGGAC	exonic	MUC19	.	unknown	UNKNOWN,	.	.	528	938	56	0	0	56	0.0289855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0030	0.0004	0.0004	0.0007	0.0003	0.0003	0.0004	0.0003	0.0002	0	0.0007	0.0006	0	0.0003	0	0.0005	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	14575.68	783	chr12	40487421	.	G	GCCCATCAGCTGAAGTGACAGGGCTACCTGGAGTGTCAGCTGGGGTGACAGGGAC	14575.68	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-6.431e+00;DP=23203;ExcessHet=0.3300;FS=3.683;InbreedingCoeff=-0.0909;MLEAC=3;MLEAF=0.075;MQ=55.74;MQRankSum=-3.119e+01;QD=3.66;ReadPosRankSum=-5.397e+00;SOR=1.166	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1490,352:1842:99:0|1:40487326_C_A:9503,0,61507:40487326	17	0	3	1
chr12	40488212	40488217	GGGGTG	-	exonic	MUC19	.	unknown	UNKNOWN,	.	.	573	874	75	0	0	75	0.041141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1328022944	0	4.385e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0005	0.0045	0.0004	0.0005	0.0005	0.0004	0.0003	0.0003	0.0003	0.0005	0	0.0005	0.0013	0	0.0004	0	0.0004	0.0010	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1014.64	821	chr12	40488211	.	TGGGGTG	T	1014.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.168e+00;DP=14312;ExcessHet=0.3300;FS=3.578;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=58.19;MQRankSum=-2.361e+01;QD=0.32;ReadPosRankSum=-5.647e+00;SOR=1.303	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1344,128:1472:99:0|1:40488211_TGGGGTG_T:500,0,53757:40488211	18	0	3	0
chr12	40488214	40488214	G	0	exonic	MUC19	.	.	.	.	.	648	669	143	9	53	214	0.107405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	6754.42	821	chr12	40488214	.	G	T,*	6754.42	.	AC=4,2;AF=0.125,0.063;AN=32;BaseQRankSum=4.72;DP=14240;ExcessHet=1.8958;FS=4.372;InbreedingCoeff=-0.1785;MLEAC=5,2;MLEAF=0.156,0.063;MQ=58.50;MQRankSum=-1.232e+01;QD=1.41;ReadPosRankSum=-7.774e+00;SOR=1.191	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:1344,0,128:1472:99:0|1:40488211_TGGGGTG_T:500,4543,58692,0,54149,53757:40488211	10	0	4	5
chr12	40488219	40488242	CAGAGACAACTGGACAATCAGCTG	-	exonic	MUC19	.	unknown	UNKNOWN,	.	.	562	903	55	1	1	58	0.0305958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1486154631	0	3.663e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0040	0.0004	0.0005	0.0005	0.0003	0.0003	0.0003	0.0003	0.0005	0	0.0004	0.0013	0	0.0005	0	0.0004	0.0010	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	412.64	821	chr12	40488218	.	ACAGAGACAACTGGACAATCAGCTG	A	412.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.217e+00;DP=14189;ExcessHet=0.3300;FS=5.392;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=58.32;MQRankSum=-2.477e+01;QD=0.12;ReadPosRankSum=-6.200e+00;SOR=1.303	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1406,128:1534:99:0|1:40488211_TGGGGTG_T:307,0,56751:40488211	18	0	3	0
chr12	40488222	40488222	A	0	exonic	MUC19	.	.	.	.	.	668	663	143	10	38	201	0.109469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	32216.33	821	chr12	40488222	.	A	G,*	32216.33	.	AC=6,2;AF=0.188,0.063;AN=32;BaseQRankSum=0.891;DP=14011;ExcessHet=3.7745;FS=5.226;InbreedingCoeff=-0.2727;MLEAC=7,2;MLEAF=0.219,0.063;MQ=58.53;MQRankSum=-1.512e+01;QD=4.86;ReadPosRankSum=-8.904e+00;SOR=1.107	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1046,182,128:1356:99:0|1:40488222_A_*:3808,0,43091,2630,38947,47332:40488222	8	0	6	5
chr12	40488224	40488224	A	0	exonic	MUC19	.	.	.	.	.	25	95	24	1	81	107	0.12037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	211896.28	821	chr12	40488224	.	A	G,T,*	211896.28	.	AC=18,2,2;AF=0.500,0.056,0.056;AN=36;BaseQRankSum=0.772;DP=14066;ExcessHet=0.3330;FS=0.000;InbreedingCoeff=0.0926;MLEAC=20,2,2;MLEAF=0.556,0.056,0.056;MQ=59.12;MQRankSum=0.00;QD=20.60;ReadPosRankSum=1.34;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:697,521,0,128:1346:99:.:.:13240,0,20743,16341,23265,44781,12025,18821,42057,46737	3	6	5	3
chr12	40488231	40488231	G	0	exonic	MUC19	.	.	.	.	.	640	765	79	12	26	129	0.0630741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	25357.79	821	chr12	40488231	.	G	*,T	25357.79	.	AC=2,6;AF=0.056,0.167;AN=36;BaseQRankSum=0.517;DP=13285;ExcessHet=3.7745;FS=5.683;InbreedingCoeff=-0.2250;MLEAC=2,7;MLEAF=0.056,0.194;MQ=58.57;MQRankSum=-1.600e+01;QD=3.94;ReadPosRankSum=-8.076e+00;SOR=1.218	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:1056,128,148:1332:99:0|1:40488222_A_*:2847,1520,45519,0,39438,43789:40488222	10	0	2	3
chr12	40488234	40488234	A	0	exonic	MUC19	.	.	.	.	.	655	769	59	13	26	111	0.0523722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	21813.94	821	chr12	40488234	.	A	T,*	21813.94	.	AC=5,2;AF=0.139,0.056;AN=36;BaseQRankSum=3.22;DP=13121;ExcessHet=2.7391;FS=7.380;InbreedingCoeff=-0.1784;MLEAC=6,2;MLEAF=0.167,0.056;MQ=58.57;MQRankSum=-1.943e+01;QD=3.85;ReadPosRankSum=-8.512e+00;SOR=1.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1036,132,128:1296:99:0|1:40488222_A_*:2368,0,43017,974,38632,44204:40488222	11	0	5	3
chr12	40488244	40488244	G	0	exonic	MUC19	.	.	.	.	.	0	221	4	0	1	5	0.00896861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	13676.28	821	chr12	40488244	.	G	A,*	13676.28	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=9.41;DP=12099;ExcessHet=1.1607;FS=4.938;InbreedingCoeff=-0.1351;MLEAC=4,1;MLEAF=0.095,0.024;MQ=58.35;MQRankSum=-1.233e+01;QD=3.77;ReadPosRankSum=-8.872e+00;SOR=1.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1156,101,0:1257:99:.:.:664,0,39976,4138,40280,44418	16	0	4	0
chr12	40489602	40489602	G	0	exonic	MUC19	.	.	.	.	.	586	533	254	148	1	551	0.340347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	89288.66	720	chr12	40489602	.	G	A,*	89288.66	.	AC=6,1;AF=0.150,0.025;AN=40;BaseQRankSum=4.13;DP=11489;ExcessHet=2.5830;FS=0.517;InbreedingCoeff=-0.2174;MLEAC=6,1;MLEAF=0.150,0.025;MQ=58.87;MQRankSum=1.10;QD=18.58;ReadPosRankSum=3.71;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:581,462,0:1043:99:0|1:40489602_G_A:16707,0,20856,18455,22246,40701:40489602	13	0	6	1
chr12	40490978	40490978	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	551	935	33	1	2	37	0.0183727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00419329	.	.	.	.	.	.	.	.	0.0025742	67	26028	rs144654701	0.0014	0.0008	0.0014	0.0014	0.0116	0.0013	0.0013	0.0103	0.0097	0.0003	0.0021	0.0002	0.0067	0	0.0107	0.0011	0.0034	0.0116	0.0020	0.0020	0.0016	0.0025	0.0139	0.0018	0.0018	0.0112	0.0102	0.0003	0	0.0030	0	0.0094	0	0.0068	0.0018	0.0033	0.0139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	33680.3	582	chr12	40490978	.	G	A	33680.3	.	AC=4;AF=0.100;AN=40;BaseQRankSum=2.26;DP=13328;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1200;MLEAC=4;MLEAF=0.100;MQ=59.56;MQRankSum=-3.345e+00;QD=12.86;ReadPosRankSum=0.453;SOR=0.714	GT:AD:DP:GQ:PL	0/1:469,360:829:99:8760,0,16574	16	0	4	1
chr12	42119164	42119164	-	TCTACACCTGTCCCACCCGCCGGAATGCGCCACAGGGCCCGCGCTGCCAGCGCCTCTC	exonic	GXYLT1	.	stopgain	GXYLT1:NM_001099650:exon2:c.228_229insGAGAGGCGCTGGCAGCGCGGGCCCTGTGGCGCATTCCGGCGGGTGGGACAGGTGTAGA:p.L77Efs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0003	8.664e-05	0.0002	0	0.0002	0	0.0006	.	.	.	.	0.0031	0.0089	0.0017	0.0045	0.0063	0.0030	0.0030	0.0058	0.0057	0.0019	0.0024	0.0017	0.0037	0.0019	0.0011	0.0030	0.0031	0.0063	4.643e-05	0.0019	2.593e-05	6.791e-05	7.298e-05	2.127e-05	1.538e-05	1.935e-05	1.036e-05	7.298e-05	0	0	0	0	9.527e-05	0	4.454e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	376.92	74	chr12	42119164	.	G	GTCTACACCTGTCCCACCCGCCGGAATGCGCCACAGGGCCCGCGCTGCCAGCGCCTCTC	376.92	.	AC=3;AF=0.075;AN=40;BaseQRankSum=0.510;DP=1495;ExcessHet=0.3476;FS=54.228;InbreedingCoeff=-0.0699;MLEAC=2;MLEAF=0.050;MQ=57.56;MQRankSum=-7.410e+00;QD=1.58;ReadPosRankSum=-1.690e+00;SOR=5.900	GT:AD:DP:GQ:PL	0/1:69,5:74:2:2,0,2824	17	0	3	1
chr12	51706661	51706661	G	C	exonic	SCN8A	.	nonsynonymous SNV	SCN8A:NM_001177984:exon11:c.G1581C:p.K527N	Epileptic encephalopathy, early infantile, 13, Autosomal dominant;Seizures, benign familial infantile, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.928	P	0.503	P	0.000	D	0.817	N	1.76	L	-2.82	D	0.033	D	0.626	D	0.12	2.608	14.68	2.46	0.518	0.299	7.062	0.252	0.0719142025239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	3.968e-05	1.38e-06	1.404e-06	3.092e-05	2.3e-07	9e-08	.	.	3.092e-05	0	0	0	0	0	9.097e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.223	0.33109	T	0.431	0.35606	B	0.315	0.41566	B	0.000179	0.48594	D	0.184301	0.816986	0.28930	N	2.195	0.61839	M	-2.82	0.91192	D	-2.89	0.62747	D	0.442	0.53445	0.033	0.82901	D	0.626	0.86854	D	10	0.24059924	0.41222	T	0.071914	0.71394	D	0.252	0.56159	0.33	0.31519	0.902646408154	0.90167	0.5674523308067984	0.56673	1.41807407564	0.85568	0.605724453926	0.53712	T	0.703665	0.91489	D	-0.0247068	0.48179	T	-0.273266	0.47488	T	0.927446901798248	0.59031	D	0.789921	0.45664	T	0.2993846	0.52850	0.29699904	0.55732	0.2993846	0.52850	0.29699904	0.55732	-3.007	0.12177	T	.	.	0.476	0.68156	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.650273	0.34508	19.65	0.9983572789978995	0.91714	0.18883	0.20441	N	AEFBI	0.095722	0.19336	N	-0.290515847983622	0.29512	1.637351	-0.293922467393298	0.28298	1.576831	0.186781275037378	0.17948	0.706548	0.73137	0	0.59043	0.45803	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.41	2.46	0.29032	0.104000	0.15148	1.189000	0.24752	0.676000	0.76740	0.600000	0.27747	1.000000	0.68203	0.996000	0.76049	0.4379:0.0:0.5621:0.0	7.062	0.24310	579	0.69780	Voltage-gated Na+ ion channel, cytoplasmic domain;Voltage-gated Na+ ion channel, cytoplasmic domain;.;.;.;.;Voltage-gated Na+ ion channel, cytoplasmic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2647	805.0	65	chr12	51706661	.	G	C	805.0	.	AC=9;AF=0.265;AN=34;BaseQRankSum=-2.321e+00;DP=1362;ExcessHet=4.7172;FS=136.953;InbreedingCoeff=-0.3697;MLEAC=10;MLEAF=0.294;MQ=60.00;MQRankSum=0.00;QD=1.42;ReadPosRankSum=1.14;SOR=11.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:45,19:68:99:.:.:163,0,844	8	0	9	4
chr12	51822178	51822178	G	C	exonic	FIGNL2	.	nonsynonymous SNV	FIGNL2:NM_001013690:exon2:c.C236G:p.A79G	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.038e-05	0	0	0	0	1.844e-05	0	0	6.5e-06	1	154602	rs140112751	1.987e-05	1.984e-05	1.636e-05	2.342e-05	2.332e-05	1.394e-05	1.205e-05	1.461e-05	1.228e-05	0	0	0	0	0	0	2.16e-05	4.979e-05	2.332e-05	3.942e-05	3.94e-05	1.285e-05	6.724e-05	7.349e-05	1.715e-05	1.129e-05	2.846e-05	1.858e-05	0	0	0	0	0	0	0.0032	7.349e-05	0	0	.	.	.	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	.	.	.	0.61	0.15665	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06336582	0.08245	T	.	.	.	.	.	.	.	.	.	0.14752070564543282	0.14674	.	.	0.343425214291	0.16951	T	0.003299	0.02708	T	.	.	.	.	.	.	.	.	.	0.649735	0.26051	T	0.055611514	0.10830	0.24660365	0.50173	0.055611514	0.10830	0.24660365	0.50172	-3.413	0.15232	T	.	.	0.067	0.02458	B	.;.	.;.	2.067146	0.26289	17.06	0.84251241404110522	0.15183	0.50320	0.28635	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999984969679	0.74766	0.255962	0.04286	0	0.085267	0.02369	0	0.217501	0.04623	0	0.092715	0.02821	0	0.771439	0.45670	4.78	3.87	0.43823	0.295000	0.18821	6.153000	0.54225	0.672000	0.70159	0.000000	0.06391	1.000000	0.68203	0.920000	0.45560	0.0:0.1515:0.8485:0.0	14.701	0.68771	473	0.77910	.;.	.	.	.	.	.	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	0.02381	2140.98	34	chr12	51822178	.	G	C	2140.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.600e-01;DP=874;ExcessHet=0.0000;FS=2.779;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=0.493;SOR=0.870	GT:AD:DP:GQ:PL	0/1:73,86:159:99:2155,0,1772	20	0	1	0
chr12	52396963	52396963	G	A	exonic	KRT82	.	nonsynonymous SNV	KRT82:NM_033033:exon6:c.C988T:p.R330C,	.	.	424	1081	17	0	0	17	0.00780174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.127	B	0.063	B	0.000	D	0.983	D	3.26	M	-2.63	D	0.394	D	0.722	D	0.365	3.077	16.27	4.25	1.323	1.288	7.722	0.460	0.141688595386	0.0011	0.000599042	0.0010	0.0017	0.0002	0	0.0002	0.0011	0.0022	0.0012	0.000925	143	154602	rs139209735	0.0006	0.0006	0.0006	0.0007	0.0042	0.0006	0.0006	0.0029	0.0024	0.0011	0.0004	0.0008	0	0.0001	0.0042	0.0006	0.0008	0.0012	0.0008	0.0008	0.0007	0.0009	0.0012	0.0007	0.0006	0.0007	0.0006	0.0009	0.0022	0.0003	0.0003	0	0.0006	0.0068	0.0008	0.0033	0.0012	0.017	0.51248	D	0.022	0.57587	D	0.127	0.26966	B	0.063	0.27082	B	0.000076	0.52346	D	0.000000	0.983455	0.40016	D	2.705	0.79137	M	-2.63	0.90083	D	-7.02	0.93786	D	0.297	0.33578	0.394	0.89000	D	0.722	0.90459	D	10	0.031328857	0.01267	T	0.141689	0.82410	D	0.460	0.75755	.	.	0.767735741357	0.76561	0.41788241260701847	0.41704	0.0826830038412	0.09327	0.361032187939	0.19536	T	0.555079	0.85004	D	-0.22638	0.17130	T	-0.138489	0.60249	T	0.0746199953984784	0.09285	T	0.913709	0.69301	D	0.3118815	0.53948	0.3581836	0.61299	0.3118815	0.53948	0.3581836	0.61299	-6.398	0.49494	T	.	.	0.123	0.25850	B	.	.	3.993923	0.58801	24.0	0.99823176131405977	0.90590	0.38310	0.25959	N	AEFBI	0.217225	0.34238	N	-0.0392781722324125	0.40083	2.374399	-0.0199253544056693	0.38817	2.292352	0.275181053958315	0.18933	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.14	4.25	0.49658	1.335000	0.33444	.	.	0.676000	0.76740	0.012000	0.18695	1.000000	0.68203	0.993000	0.69303	0.0836:0.0:0.7549:0.1616	7.722	0.27901	778	0.48011	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	804.98	35	chr12	52396963	.	G	A	804.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.71;DP=772;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.88;ReadPosRankSum=-7.780e-01;SOR=0.773	GT:AD:DP:GQ:PL	0/1:41,33:74:99:819,0,966	20	0	1	0
chr12	52695804	52695804	C	-	exonic	KRT77	.	frameshift deletion	KRT77:NM_175078:exon4:c.883delG:p.E295Rfs*5,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0001	0	8.678e-05	0	0	0.0002	0	0	0.00011	17	154602	rs767528845	9.374e-05	9.371e-05	8.987e-05	9.765e-05	0.0001	8.094e-05	7.586e-05	9.933e-05	9.336e-05	0	6.708e-05	0	0	0	0	0.0001	8.28e-05	0	8.543e-05	8.537e-05	6.423e-05	0.0001	0.0002	4.958e-05	3.963e-05	9.048e-05	7.012e-05	0	0	0.0001	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	881.94	35	chr12	52695803	.	TC	T	881.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.069;DP=758;ExcessHet=0.0000;FS=6.456;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.97;ReadPosRankSum=-1.039e+00;SOR=1.473	GT:AD:DP:GQ:PL	0/1:36,32:68:99:896,0,1005	20	0	1	0
chr12	52949315	52949315	G	C	exonic	KRT18	.	nonsynonymous SNV	KRT18:NM_000224:exon1:c.G142C:p.V48L	Cirrhosis, cryptogenic, Autosomal recessive	.	400	768	347	0	7	354	0.18428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.65	P	0.223	B	0.138	N	1.000	N	2.865	M	-1.57	D	-0.406	T	0.471	T	0.427	2.081	12.91	0.954	0.219	-0.441	7.665	0.446	0.210614070419	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1359140246	6.957e-07	0.0003	0	1.399e-06	3.037e-05	0	0	.	.	3.037e-05	0	0	0	0	0	0	0	0	0.0011	0.0092	0.0010	0.0012	0.0024	0.0010	0.0009	0.0013	0.0012	0.0003	0.0024	0.0008	0.0021	0	0.0016	0	0.0015	0.0016	0.0024	0.187	0.21385	T	0.404	0.14818	T	0.519	0.40644	P	0.111	0.37929	B	0.138376	0.18380	N	0.416972	1	0.81001	D	2.265	0.64440	M	-1.57	0.82347	D	-1.0	0.26422	N	0.082	0.05799	-0.4056	0.71850	T	0.471	0.79663	T	10	0.083414674	0.13874	T	0.210614	0.87261	D	0.446	0.74797	0.415	0.45380	0.860313002099	0.85896	0.7160274570190178	0.71545	0.531599379089	0.50652	0.573910236359	0.49230	T	0.147259	0.48525	T	0.0174853	0.54042	T	-0.21266	0.53441	T	0.265387445688248	0.23549	T	0.0516948	0.00385	T	0.047216356	0.08035	0.043877922	0.05557	0.047216356	0.08035	0.043877922	0.05557	-4.986	0.36687	T	0.2609872102591527	0.35238	0.319	0.56786	B	.;.;.	.;.;.	0.909457	0.12836	9.352	0.95101178256288821	0.26176	0.54699	0.29680	D	AEFDBHCI	0.804658	0.72946	D	-0.508296202011104	0.21811	1.160241	-0.604811601927955	0.19369	1.038886	0.999992841170832	0.74766	0.733237	0.96898	0	0.609123	0.50646	0	0.600757	0.32118	0	0.638787	0.57140	0	.	.	3.79	0.954	0.18719	-0.106000	0.10860	.	.	-0.227000	0.07798	0.000000	0.06391	0.005000	0.19230	0.311000	0.24761	0.3008:0.0:0.6992:0.0	7.665	0.27595	769	0.49307	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	15089.32	89	chr12	52949315	.	G	A,C	15089.32	.	AC=20,1;AF=0.476,0.024;AN=42;BaseQRankSum=1.47;DP=1835;ExcessHet=54.0936;FS=3.984;InbreedingCoeff=-1.0000;MLEAC=20,1;MLEAF=0.476,0.024;MQ=56.35;MQRankSum=-9.015e+00;QD=8.31;ReadPosRankSum=-4.930e-01;SOR=1.108	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,23,0:85:99:0|1:52949249_G_A:779,0,2534,966,2603,3569:52949249	0	0	20	0
chr12	52951595	52951595	G	A	exonic	KRT18	.	nonsynonymous SNV	KRT18:NM_000224:exon4:c.G772A:p.E258K	Cirrhosis, cryptogenic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3272969	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.52	T	0.027	B	0.013	B	0.194	N	0.875	N	0.39	N	-2.49	D	-0.600	T	0.439	T	0.173	0.755	8.001	3.59	2.311	0.857	13.487	0.211	0.0406890940888	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1347876514	9.577e-06	9.577e-06	4.084e-06	1.513e-05	2.987e-05	5.56e-06	4.35e-06	4.55e-06	3.32e-06	2.987e-05	2.236e-05	0	0	0	0	8.993e-06	3.312e-05	0	6.577e-06	6.569e-06	0	1.347e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	0.94	0.03030	T	0.007	0.19556	B	0.013	0.16460	B	0.193793	0.16776	N	0.513353	0.874503	0.28153	N	0.38	0.12130	N	-2.49	0.89145	D	0.69	0.02195	N	0.193	0.23506	-0.5999	0.64822	T	0.439	0.77765	T	10	0.09586775	0.17154	T	0.040689	0.59514	D	0.211	0.50185	.	.	0.564807590308	0.56144	0.33711777426591916	0.33624	0.609901705907	0.55697	0.367310762405	0.20445	T	0.321506	0.69260	T	-0.0969311	0.36933	T	-0.294146	0.45341	T	0.285273253917694	0.24392	T	0.725627	0.33984	T	0.15977314	0.35872	0.13554487	0.32450	0.15977314	0.35872	0.13554487	0.32449	-8.963	0.67458	D	0.10965201983919194	0.09178	0.206	0.43227	B	.;.;.	.;.;.	2.327061	0.29806	18.24	0.90549147926805984	0.19804	0.30971	0.24219	N	AEFBHCI	0.812927	0.73553	D	-0.592304290303385	0.19177	1.00163	-0.478043993983517	0.22760	1.237794	0.999999999490694	0.74766	0.722319	0.85440	0	0.588764	0.42986	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	3.59	3.59	0.40253	0.872000	0.27688	.	.	0.596000	0.33519	0.024000	0.20007	0.999000	0.35428	0.971000	0.54645	0.0:0.0:1.0:0.0	13.487	0.60826	764	0.49969	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	145.98	43	chr12	52951595	.	G	A	145.98	.	AC=4;AF=0.250;AN=16;BaseQRankSum=-1.195e+00;DP=797;ExcessHet=0.7148;FS=135.113;InbreedingCoeff=-0.3042;MLEAC=5;MLEAF=0.313;MQ=60.00;MQRankSum=0.00;QD=0.81;ReadPosRankSum=0.495;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:39,14:53:82:.:.:82,0,744	4	0	4	13
chr12	54363394	54363394	G	A	exonic	GPR84	.	nonsynonymous SNV	GPR84:NM_020370:exon2:c.C458T:p.A153V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	1.0	D	0.991	D	0.000	D	1.000	D	0.89	L	-0.52	T	-0.552	T	0.368	T	0.759	4.080	21.0	5.02	2.496	2.102	16.201	0.403	0.0237397125168	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1345501624	2.755e-06	2.742e-06	1.372e-06	4.151e-06	3.627e-06	6.5e-07	4.4e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.627e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.011	0.64786	D	1.0	0.90584	D	0.991	0.79672	D	0.000478	0.44119	D	0.088981	0.999998	0.58761	D	1.465	0.36909	L	-0.52	0.70717	T	0.23	0.04613	N	0.196	0.21580	-0.5516	0.66726	T	0.368	0.72788	T	10	0.3502603	0.51901	T	0.02374	0.46713	T	0.403	0.71636	0.571	0.69431	0.809007091605	0.80721	0.2760080514280935	0.27513	0.162976829088	0.18394	0.490764260292	0.37544	T	0.005184	0.04625	T	0.118655	0.66237	D	-0.0673364	0.65815	T	0.74129194021225	0.42806	D	0.725127	0.33902	T	0.11525833	0.27201	0.15893412	0.37092	0.11525833	0.27201	0.15893412	0.37091	-4.201	0.26766	T	.	.	0.081	0.08224	B	.;.	.;.	3.791423	0.54572	23.5	0.99915949351705269	0.98379	0.88390	0.48296	D	AEFBI	0.518746	0.54431	D	0.36141034936137	0.59345	4.113099	0.384589246084373	0.60614	4.250998	0.999999998215978	0.74766	0.497415	0.19182	0	0.541556	0.11502	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.02	5.02	0.66742	1.850000	0.38968	5.121000	0.47587	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.822000	0.38733	0.0:0.0:1.0:0.0	16.201	0.81895	686	0.59327	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3125	972.57	59	chr12	54363394	.	G	A	972.57	.	AC=10;AF=0.313;AN=32;BaseQRankSum=-3.390e+00;DP=1918;ExcessHet=6.1002;FS=237.561;InbreedingCoeff=-0.4326;MLEAC=12;MLEAF=0.375;MQ=60.00;MQRankSum=0.00;QD=0.94;ReadPosRankSum=0.851;SOR=11.822	GT:AD:DP:GQ:PL	0/1:71,28:99:99:102,0,1549	6	0	10	5
chr12	55957344	55957344	G	T	exonic	PMEL	.	nonsynonymous SNV	PMEL:NM_001200053:exon4:c.C701A:p.P234H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.926	D	0.173	N	0.999	N	1.15	L	3.02	T	-1.060	T	0.095	T	0.28	1.965	12.53	2.92	0.902	2.284	8.822	0.118	.	.	0.00399361	0.0027	0	0	0.0361	0	0	0	0.0002	0.0023415	362	154602	rs2071024	0.0009	0.0009	0.0010	0.0009	0.0318	0.0009	0.0009	0.0303	0.0297	0	0	0	0.0318	0	0.0002	7.256e-06	0.0011	9.531e-05	0.0012	0.0012	0.0010	0.0014	0.0351	0.0011	0.0010	0.0310	0.0294	0	0	6.536e-05	0	0.0351	0	0	4.41e-05	0.0005	0.0002	0.001	0.91255	D	0.008	0.74150	D	0.999	0.77913	D	0.926	0.66095	D	0.173493	0.17306	N	0.560093	0.999946	0.21555	N	2.215	0.62545	M	2.93	0.35219	T	-2.12	0.79060	N	0.3	0.33904	-1.0605	0.11632	T	0.095	0.35765	T	10	0.003482461	0.00062	T	.	.	.	0.118	0.32913	.	.	0.347879110917	0.34393	0.40577016809998806	0.40493	0.536416863823	0.50972	0.333448261023	0.15454	T	0.475532	0.80654	T	-0.47304	0.00814	T	-0.42013	0.31060	T	0.128894018528771	0.15279	T	0.759724	0.43505	T	0.11893563	0.28014	0.13421431	0.32165	0.11893563	0.28014	0.13421431	0.32164	-6.473	0.51160	T	.	.	0.105	0.32153	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.222462	0.28365	17.77	0.99047496663776746	0.51162	0.60907	0.31330	D	AEFDBCI	0.359562	0.44984	N	-0.0850162230394928	0.38050	2.222648	-0.1813636049679	0.32221	1.831067	0.960060252772709	0.28465	0.67177	0.52595	0	0.550933	0.16991	0	0.702456	0.68683	0	0.645665	0.59343	0	.	.	5.73	2.92	0.32998	1.099000	0.30625	.	.	-0.113000	0.14837	0.020000	0.19661	0.332000	0.24378	0.525000	0.29590	0.238:0.0:0.762:0.0	8.822	0.34191	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	0.02381	1450.98	39	chr12	55957344	.	G	T	1450.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.421;DP=830;ExcessHet=0.0000;FS=2.357;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=0.772;SOR=0.970	GT:AD:DP:GQ:PL	0/1:63,56:119:99:1465,0,1585	20	0	1	0
chr12	57191498	57191498	A	G	exonic	LRP1	.	nonsynonymous SNV	LRP1:NM_002332:exon44:c.A7415G:p.N2472S,	.	.	1	1497	22	2	0	26	0.00860927	.	.	725209	not_provided|LRP1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.84	T	0.39	B	0.079	B	0.012	N	1.000	D	1.13	L	-2.2	D	-0.379	T	0.415	T	0.082	3.267	16.96	4.61	1.964	7.285	13.226	0.296	0.0145036396415	0.0004	0.000798722	0.0011	9.934e-05	0.0004	0	0	0.0009	0.0012	0.0047	0.0009896	153	154602	rs148875245	0.0009	0.0009	0.0007	0.0011	0.0051	0.0009	0.0008	0.0047	0.0045	3.014e-05	0.0009	0.0078	0	5.794e-05	0.0032	0.0005	0.0013	0.0051	0.0006	0.0006	0.0006	0.0007	0.0043	0.0005	0.0005	0.0029	0.0024	4.827e-05	0	0.0003	0.0066	0	0	0	0.0006	0.0019	0.0043	0.064	0.36509	T	0.024	0.56640	D	0.39	0.34593	B	0.079	0.28749	B	0.011613	0.29466	N	0.296074	0.575951	0.32334	D	1.14	0.29013	L	-2.2	0.86888	D	-2.97	0.61865	D	0.35	0.39153	-0.3790	0.72682	T	0.415	0.76225	T	10	0.00943622	0.00213	T	0.014504	0.34657	T	0.296	0.61616	.	.	0.603881636218	0.60071	0.8255709546629177	0.82515	.	.	0.574706077576	0.49341	T	0.375927	0.73943	T	-0.370062	0.03590	T	-0.304489	0.44249	T	0.109408480028388	0.13362	T	0.854615	0.54143	D	0.14265086	0.32819	0.14545806	0.34496	0.14265086	0.32819	0.14545806	0.34495	-11.797	0.83848	D	.	.	0.099	0.16756	B	.	.	3.165364	0.42900	21.6	0.99599567704825898	0.74101	0.98319	0.81588	D	AEFDGBCI	0.903463	0.85257	D	-0.0507444552238111	0.39568	2.335548	0.0979207483431564	0.44445	2.72607	0.999999999083161	0.74766	0.722319	0.85440	0	0.593476	0.48661	0	0.698795	0.65105	0	0.622129	0.49086	0	.	.	4.61	4.61	0.56724	7.462000	0.79890	11.260000	0.91045	0.734000	0.85920	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	1.0:0.0:0.0:0.0	13.226	0.59339	345	0.85689	.	.	.	.	.	.	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	0.02381	2297.98	39	chr12	57191498	.	A	G	2297.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.781;DP=1076;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.99;ReadPosRankSum=-9.120e-01;SOR=0.684	GT:AD:DP:GQ:PL	0/1:132,98:230:99:2312,0,3316	20	0	1	0
chr12	64094951	64094951	C	T	exonic	SRGAP1	.	nonsynonymous SNV	SRGAP1:NM_001346201:exon13:c.C1490T:p.P497L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	1.0	D	0.004	U	1.000	D	4.66	H	-1.67	D	1.041	D	0.862	D	0.965	4.754	26.6	5.05	2.506	7.731	18.778	0.871	0.477149508009	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1321506999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.576e-06	6.569e-06	0	1.346e-05	2.416e-05	0	0	.	.	2.416e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.003518	0.34847	U	0.000000	1	0.81001	D	5.245	0.99966	H	-1.67	0.82806	D	-8.91	0.97942	D	0.994	0.99899	1.041	0.97931	D	0.862	0.95394	D	9	0.9766516	0.97462	D	0.47715	0.94780	D	0.871	0.96133	0.818	0.93195	0.917048781376	0.91621	0.9220230046232393	0.92179	0.853553387311	0.68658	0.808189690113	0.83214	D	0.658826	0.89736	D	0.445754	0.92290	D	0.402518	0.92194	D	0.999464809894562	0.97510	D	0.983302	0.94339	D	0.581759	0.71704	0.55074006	0.74023	0.581759	0.71705	0.55074006	0.74024	-10.144	0.74769	D	.	.	0.971	0.89526	P	.;.;.	.;.;.	5.271034	0.88506	29.6	0.99810721164317762	0.89442	0.99127	0.91622	D	AEFBI	0.884659	0.81453	D	0.985702751092392	0.95289	13.47936	0.859280216376727	0.93545	12.11502	1.0	0.98316	0.615465	0.37627	0	0.573888	0.26702	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.05	5.05	0.67566	7.842000	0.85116	7.707000	0.66598	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:1.0:0.0:0.0	18.778	0.91883	917	0.20147	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	122.14	41	chr12	64094951	.	C	T	122.14	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-2.450e+00;DP=926;ExcessHet=1.7912;FS=99.434;InbreedingCoeff=-0.1390;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.47;ReadPosRankSum=-6.800e-02;SOR=9.736	GT:AD:DP:GQ:PL	0/1:34,8:42:11:11,0,595	15	0	6	0
chr12	66310195	66310195	G	A	exonic	HELB	.	nonsynonymous SNV	HELB:NM_001370285:exon4:c.G1267A:p.D423N	.	.	429	1092	1	0	0	1	0.000457666	.	.	3263085	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.675	P	0.13	B	0.002	N	1.000	N	1.04	L	2.63	T	-0.998	T	0.021	T	0.049	2.934	15.78	5.11	2.941	1.648	8.832	0.085	0.00366952090135	0.0004	0.000199681	0.0003	9.628e-05	0	0	0.0003	0.0004	0	0.0002	0.0002264	35	154602	rs145110411	0.0002	0.0002	0.0002	0.0002	0.0021	0.0002	0.0002	0.0012	0.0009	5.974e-05	0.0001	0	0	5.618e-05	0.0021	0.0002	0.0001	0.0001	0.0002	0.0002	0.0002	9.397e-05	0.0003	0.0001	0.0001	0.0002	0.0002	9.624e-05	0	6.533e-05	0	0.0002	0	0	0.0003	0.0005	0	0.094	0.31383	T	0.031	0.53788	D	0.675	0.41275	P	0.13	0.32896	B	0.001726	0.38161	N	0.282482	1	0.08975	N	2.08	0.57402	M	2.63	0.12884	T	-1.29	0.32387	N	0.13	0.12484	-0.9979	0.30507	T	0.021	0.09056	T	9	0.046358913	0.03816	T	0.00367	0.08464	T	0.085	0.24743	.	.	0.432154444652	0.42834	0.2966372676196461	0.29576	0.166873589523	0.18820	0.302598297596	0.10789	T	0.004082	0.03492	T	-0.562687	0.00245	T	-0.727965	0.04420	T	0.0397815071046352	0.03651	T	.	.	.	0.05672085	0.11197	0.054973558	0.09558	0.05672085	0.11197	0.054973558	0.09557	-3.198	0.12456	T	.	.	0.076	0.06159	B	.	.	1.444081	0.18638	13.85	0.99571758021693024	0.72440	0.12413	0.17253	N	AEFGBI	0.050214	0.08755	N	-0.218038726750909	0.32394	1.826395	-0.20656136507292	0.31300	1.770074	0.93719001561287	0.27286	0.562547	0.31514	0	0.653731	0.59785	0	0.463624	0.06942	0	0.567892	0.33627	0	.	.	6.17	5.11	0.69188	1.541000	0.35732	2.845000	0.35104	0.676000	0.76740	0.042000	0.21073	0.996000	0.32793	0.035000	0.13729	0.1192:0.1569:0.7239:0.0	8.832	0.34248	819	0.41190	.	.	.	.	.	.	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	0.02381	2531.98	34	chr12	66310195	.	G	A	2531.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.391;DP=941;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.82;ReadPosRankSum=-1.100e-02;SOR=0.675	GT:AD:DP:GQ:PL	0/1:133,101:234:99:2546,0,3619	20	0	1	0
chr12	68746654	68746654	C	T	exonic	SLC35E3	.	nonsynonymous SNV	SLC35E3:NM_001354997:exon1:c.C277T:p.L93F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.945	D	0.000	D	1.000	D	2.055	M	0.22	T	-0.540	T	0.305	T	0.892	3.310	17.13	4.07	1.185	4.562	9.363	0.360	0.0732958468284	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1190175388	5.472e-06	5.472e-06	1.361e-06	9.625e-06	7.194e-06	2.35e-06	1.7e-06	3.09e-06	2.24e-06	0	0	0	0	0	0	7.194e-06	0	0	6.569e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.007	0.69154	D	0.999	0.77913	D	0.945	0.68163	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.83	0.82355	M	0.22	0.59851	T	-3.65	0.69950	D	0.832	0.82761	-0.5400	0.67163	T	0.305	0.67593	T	9	0.8296764	0.82134	D	0.073296	0.71752	D	0.360	0.68052	0.584	0.71118	0.761306548851	0.75913	0.7042637436232192	0.70368	0.496345723792	0.48149	0.790430426598	0.80508	T	0.267558	0.63960	T	0.290612	0.82205	D	0.179668	0.81976	D	0.991108179092407	0.81360	D	0.952505	0.81867	D	0.65004015	0.75366	0.55745494	0.74401	0.65004015	0.75367	0.55745494	0.74401	-7.448	0.57243	T	.	.	0.428	0.61077	A	.	.	3.921193	0.57248	23.8	0.99826610915505298	0.90852	0.92086	0.54913	D	ALL	0.445973	0.50222	N	0.379900800053829	0.60332	4.221152	0.291294471494866	0.55029	3.666553	0.99999999999858	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.98	4.07	0.46726	4.625000	0.60962	5.871000	0.50535	0.333000	0.19617	1.000000	0.71638	1.000000	0.68203	0.702000	0.34203	0.0:0.8316:0.0:0.1684	9.363	0.37371	883	0.28872	Sugar phosphate transporter 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	0.02381	2169.98	33	chr12	68746654	.	C	T	2169.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.523;DP=866;ExcessHet=0.0000;FS=1.207;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.92;ReadPosRankSum=-1.580e+00;SOR=0.563	GT:AD:DP:GQ:PL	0/1:84,84:168:99:2184,0,2196	20	0	1	0
chr12	69390302	69390302	G	A	exonic	YEATS4	.	nonsynonymous SNV	YEATS4:NM_001300950:exon5:c.G508A:p.A170T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.011	N	1.000	N	0	N	.	.	-1.023	T	0.037	T	0.023	-0.104	3.490	3.25	0.483	1.917	5.740	0.125	0.00318664363409	.	.	8.474e-06	0	0	0	0	1.53e-05	0	0	6.5e-06	1	154602	rs747470925	1.955e-05	2.052e-05	1.25e-05	2.668e-05	7.647e-05	1.356e-05	1.167e-05	2.027e-05	1.159e-05	0	0	0	7.647e-05	0	0	2.083e-05	1.693e-05	1.25e-05	1.315e-05	1.313e-05	0	2.691e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.471e-05	0	0.0002	0.744	0.05899	T	0.606	0.08245	T	0.0	0.02946	B	0.0	0.01387	B	0.011053	0.29681	N	0.407307	1.000	0.19694	N	0.205	0.09354	N	.	.	.	0.17	0.07444	N	0.022	0.00407	-1.0228	0.22802	T	0.037	0.16116	T	8	0.036257118	0.01915	T	0.003187	0.06996	T	0.125	0.34456	0.083	0.00760	0.0482279557977	0.04254	0.23945469953489432	0.23859	1.03848036312	0.75702	0.346135854721	0.17351	T	0.019478	0.15513	T	-0.316002	0.07230	T	-0.691691	0.06292	T	0.166448906064034	0.18335	T	0.70443	0.31478	T	0.026774859	0.01778	0.033521004	0.02260	0.026774859	0.01777	0.033521004	0.02260	-3.505	0.16501	T	.	.	0.058	0.00614	B	.;.	.;.	1.443749	0.18638	13.84	0.32174688923971356	0.01851	0.36310	0.25504	N	AEFBI	0.049994	0.08695	N	-0.616361404389212	0.18452	0.9581195	-0.410252859117624	0.24697	1.353843	0.999594022117322	0.40745	0.75658	0.98901	0	0.743671	0.97443	0	0.709663	0.75317	0	0.656636	0.63459	0	.	.	5.64	3.25	0.36363	1.904000	0.39498	6.141000	0.54053	-0.116000	0.14526	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.606:0.0:0.0768:0.3172	5.740	0.17357	928	0.17405	.;.	.	.	.	.	.	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	0.02381	78.99	42	chr12	69390302	.	G	A	78.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.890e-01;DP=902;ExcessHet=0.0000;FS=29.734;InbreedingCoeff=-0.0252;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.84;ReadPosRankSum=1.22;SOR=5.134	GT:AD:DP:GQ:PL	0/1:31,12:43:93:93,0,618	20	0	1	0
chr12	70353915	70353915	A	-	exonic	CNOT2	.	nonframeshift deletion	CNOT2:NM_001199303:exon16:c.1623delA:p.X541X	.	.	869	502	37	12	102	163	0.057277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	2294.56	31	chr12	70353913	.	TAA	T,TA,TAAA	2294.56	.	AC=9,8,4;AF=0.214,0.190,0.095;AN=42;BaseQRankSum=0.709;DP=1081;ExcessHet=11.2363;FS=0.442;InbreedingCoeff=-0.4297;MLEAC=8,8,3;MLEAF=0.190,0.190,0.071;MQ=60.00;MQRankSum=0.00;QD=8.40;ReadPosRankSum=-2.490e-01;SOR=0.744	GT:AD:DP:GQ:PL	0/2:6,4,6,1:17:24:104,24,212,0,67,95,135,153,98,317	3	0	8	0
chr12	70353915	70353915	-	A	exonic	CNOT2	.	nonframeshift insertion	CNOT2:NM_001199303:exon16:c.1623dupA:p.X541delinsX	.	.	869	502	37	12	102	163	0.057277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	2294.56	31	chr12	70353913	.	TAA	T,TA,TAAA	2294.56	.	AC=9,8,4;AF=0.214,0.190,0.095;AN=42;BaseQRankSum=0.709;DP=1081;ExcessHet=11.2363;FS=0.442;InbreedingCoeff=-0.4297;MLEAC=8,8,3;MLEAF=0.190,0.190,0.071;MQ=60.00;MQRankSum=0.00;QD=8.40;ReadPosRankSum=-2.490e-01;SOR=0.744	GT:AD:DP:GQ:PL	0/2:6,4,6,1:17:24:104,24,212,0,67,95,135,153,98,317	3	0	8	0
chr12	76059802	76059802	A	G	exonic	NAP1L1	.	nonsynonymous SNV	NAP1L1:NM_001330232:exon4:c.T236C:p.I79T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.741	P	0.287	B	0.000	D	1.000	D	0.505	N	1.0	T	-1.072	T	0.067	T	0.312	2.059	12.84	5.49	2.213	9.009	12.985	0.154	0.0140890462673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.298e-05	0.0001	1.007e-05	1.59e-05	3.167e-05	8.11e-06	6.69e-06	6.9e-06	5.32e-06	3.167e-05	0	0	0	0	0	1.237e-05	3.459e-05	2.454e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.58626	T	0.515	0.10643	T	0.741	0.42992	P	0.232	0.40572	B	0.000212	0.47681	D	0.219991	0.940363	0.81001	D	1.35	0.33515	L	1.0	0.41392	T	-1.96	0.50666	N	0.224	0.26111	-1.0717	0.09043	T	0.067	0.27708	T	10	0.21725681	0.38332	T	0.014089	0.33970	T	0.154	0.40340	0.451	0.51285	0.265735104816	0.26182	0.28783724609276506	0.28696	0.828852337507	0.67540	0.57043671608	0.48739	T	0.091695	0.38850	T	-0.0750447	0.40518	T	-0.345573	0.39712	T	0.783953189849854	0.45299	D	0.659534	0.37862	T	0.10568608	0.24989	0.1311999	0.31509	0.10568608	0.24989	0.1311999	0.31508	-8.678	0.65603	D	.	.	0.270	0.65692	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.388031	0.67691	25.1	0.9712404844935334	0.32469	0.99811	0.99622	D	AEFBI	0.923144	0.89919	D	0.0872240292922002	0.45869	2.836197	0.26620784129639	0.53577	3.525932	0.999999917027058	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.49	5.49	0.81022	9.263000	0.94779	11.266000	0.91241	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.8656:0.1344:0.0:0.0	12.985	0.57988	934	0.15400	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	575.92	35	chr12	76059802	.	A	G	575.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.663e+00;DP=1238;ExcessHet=0.6776;FS=149.322;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=1.36;ReadPosRankSum=-1.420e-01;SOR=9.129	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,32:103:99:0|1:76059802_A_G:345,0,1775:76059802	17	0	4	0
chr12	85055800	85055800	G	T	exonic	LRRIQ1	.	nonsynonymous SNV	LRRIQ1:NM_001079910:exon8:c.G1007T:p.R336L,	.	.	463	1058	1	0	0	1	0.000472367	.	.	3288149	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.25	T	0.037	B	0.012	B	0.178	N	1.000	N	1.04	L	0.39	T	-1.056	T	0.089	T	0.108	0.396	6.150	-8.68	-1.375	-2.114	5.873	0.044	0.0283662280693	.	.	1.241e-05	0	0	0	0	2.446e-05	0	0	1.29e-05	2	154602	rs756097902	9.69e-06	9.577e-06	1.238e-05	6.969e-06	0.0007	5.62e-06	4.4e-06	0.0002	0.0001	0	0	0	0	0	0.0007	4.538e-06	5.03e-05	2.361e-05	2.671e-05	2.643e-05	3.908e-05	1.371e-05	4.459e-05	8.24e-06	5.21e-06	1.184e-05	6.28e-06	0	0	0	0	0	0	0.0032	4.459e-05	0	0	0.081	0.33418	T	0.087	0.40747	T	0.005	0.12996	B	0.007	0.12992	B	0.178422	0.03164	N	1.932060	1	0.08975	N	1.2	0.30300	L	0.39	0.57419	T	-3.08	0.63323	D	0.115	0.10340	-1.0556	0.12882	T	0.089	0.34408	T	10	0.041407973	0.02793	T	0.028366	0.51054	D	0.044	0.11924	0.167	0.07186	0.0482279557977	0.04254	0.22710745232474755	0.22625	0.0107628809615	0.00996	0.232092648745	0.02126	T	0.003114	0.02515	T	-0.33746	0.05566	T	-0.619571	0.11219	T	0.0377143139089912	0.03281	T	0.643636	0.25529	T	0.08992107	0.21024	0.12903471	0.31033	0.08992107	0.21024	0.12903471	0.31033	-5.446	0.41359	T	.	.	0.224	0.45544	B	.	.	0.028323	0.04481	1.194	0.86048635500747916	0.16280	0.01183	0.04239	N	AEFBI	0.027661	0.02299	N	-1.55082200307477	0.01530	0.06680698	-1.66171268121826	0.01316	0.05939927	0.95936331584003	0.28421	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.27	-8.68	0.00744	-2.858000	0.00796	-3.813000	0.02520	-0.161000	0.11593	0.000000	0.06391	0.000000	0.08366	0.971000	0.54645	0.6334:0.0827:0.1329:0.151	5.873	0.18060	928	0.17405	.	.	.	.	.	.	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	0.02381	845.98	40	chr12	85055800	.	G	T	845.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.914;DP=777;ExcessHet=0.0000;FS=3.757;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.11;ReadPosRankSum=1.96;SOR=1.060	GT:AD:DP:GQ:PL	0/1:26,30:56:99:860,0,660	20	0	1	0
chr12	85056019	85056019	A	G	exonic	LRRIQ1	.	nonsynonymous SNV	LRRIQ1:NM_001079910:exon8:c.A1226G:p.H409R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.139	B	0.025	B	0.397	N	1.000	N	1.04	L	0.77	T	-1.047	T	0.089	T	0.093	0.798	8.198	0.722	-0.057	0.541	5.021	0.020	0.00648457057696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.20835	T	0.224	0.25591	T	0.139	0.27501	B	0.025	0.20508	B	0.396808	0.04510	N	1.340400	1	0.08975	N	1.735	0.44892	L	0.77	0.49642	T	-1.53	0.37178	N	0.089	0.06720	-1.0470	0.15246	T	0.089	0.34381	T	10	0.045061618	0.03533	T	0.006485	0.17072	T	0.020	0.03691	0.174	0.08014	0.225902525712	0.22197	0.061584795984740925	0.06098	0.0104516395209	0.00965	0.331916958094	0.15223	T	0.001784	0.01205	T	-0.287917	0.09846	T	-0.65135	0.08859	T	0.0565411038696766	0.06613	T	0.368163	0.08622	T	0.038733363	0.05218	0.05348246	0.09018	0.038733363	0.05218	0.05348246	0.09018	-3.574	0.17482	T	.	.	0.108	0.20274	B	.	.	0.587909	0.09566	6.339	0.54786492251064089	0.05208	0.15143	0.18765	N	AEFBI	0.071215	0.14168	N	-0.998943989542942	0.08626	0.4052027	-1.03600314289624	0.09001	0.4454498	1.43920586967869E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	4.65	0.722	0.17379	0.238000	0.17782	0.170000	0.15507	-0.174000	0.10959	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.5158:0.0:0.0774:0.4068	5.021	0.13705	928	0.17405	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1507.98	40	chr12	85056019	.	A	G	1507.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.554e+00;DP=899;ExcessHet=0.0000;FS=0.624;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.69;ReadPosRankSum=1.03;SOR=0.787	GT:AD:DP:GQ:PL	0/1:72,69:141:99:1522,0,1780	20	0	1	0
chr12	95266379	95266379	T	G	exonic	VEZT	.	nonsynonymous SNV	VEZT:NM_001352101:exon3:c.T13G:p.F5V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.064	B	0.038	B	0.000	D	0.964	D	1.7	L	1.21	T	-1.046	T	0.089	T	0.431	1.312	10.30	2.95	0.303	1.371	3.026	0.093	0.0151389653344	.	.	8.282e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs762412270	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	6.57e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.086	0.37118	T	0.221	0.31026	T	0.007	0.14184	B	0.008	0.13708	B	0.000160	0.49130	D	0.217597	0.96442	0.38406	D	1.39	0.34934	L	1.21	0.48142	T	-1.31	0.64939	N	0.328	0.36884	-1.0461	0.15505	T	0.089	0.34408	T	10	0.16465306	0.30798	T	0.015139	0.35698	T	0.093	0.26882	0.375	0.38830	0.521601224155	0.51804	0.4364331803380585	0.43560	0.16307591956	0.18400	0.440813243389	0.30688	T	0.099394	0.44709	T	-0.0871518	0.38544	T	-0.362964	0.37710	T	0.297953156225759	0.24919	T	0.744526	0.38228	T	0.059242506	0.12017	0.057038173	0.10300	0.059242506	0.12017	0.057038173	0.10299	-2.842	0.08576	T	.	.	0.094	0.21653	B	.;.;.;.;.;.	.;.;.;.;.;.	3.427803	0.47621	22.5	0.9436610201740695	0.24728	0.90962	0.52592	D	AEFBIJ	0.449204	0.50411	N	-0.370630692613941	0.26521	1.448033	-0.244434980640901	0.29964	1.683056	0.179756062416112	0.17854	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.39	2.95	0.33285	1.555000	0.35884	2.796000	0.34824	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.892000	0.42986	0.2361:0.0687:0.1223:0.5729	3.026	0.05721	848	0.35897	Myosin-binding domain;.;.;.;.;Myosin-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	802.98	34	chr12	95266379	.	T	G	802.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.384e+00;DP=776;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.47;ReadPosRankSum=-1.152e+00;SOR=0.780	GT:AD:DP:GQ:PL	0/1:34,36:70:99:817,0,871	20	0	1	0
chr12	103979899	103979899	C	A	exonic	TDG	.	nonsynonymous SNV	TDG:NM_003211:exon3:c.C235A:p.P79T,	.	.	436	1070	16	0	0	16	0.00742115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.923	P	0.56	P	0.000	D	1.000	D	1.79	L	2.21	T	-0.998	T	0.121	T	0.275	2.091	12.95	2.27	0.581	2.609	8.449	0.044	.	.	.	0.0052	0.0004	0.0023	0	0.0008	0.0031	0.0056	0.0231	0.0041849	647	154602	rs758388260	0.0022	0.0041	0.0016	0.0028	0.0160	0.0021	0.0021	0.0153	0.0150	0.0002	0.0011	0.0055	2.52e-05	0.0005	0.0044	0.0013	0.0027	0.0160	0.0010	0.0030	0.0008	0.0011	0.0086	0.0009	0.0008	0.0065	0.0058	0.0002	0	0.0008	0.0029	0	0.0002	0.0035	0.0011	0.0009	0.0086	0.023	0.48186	D	0.018	0.59732	D	0.004	0.12183	B	0.002	0.06944	B	0.000280	0.46590	D	0.226724	0.999435	0.81001	D	1.87	0.49600	L	2.21	0.46028	T	-1.65	0.50337	N	0.178	0.20129	-0.9981	0.30451	T	0.121	0.42208	T	10	0.004401505	0.00090	T	.	.	.	0.044	0.11924	.	.	0.71034540647	0.70781	0.47358462202903356	0.47277	0.609113261058	0.55654	0.382329493761	0.22587	T	0.148085	0.48647	T	-0.141711	0.29619	T	-0.441334	0.28658	T	0.0495586411044562	0.05423	T	0.729627	0.35417	T	0.07418007	0.16629	0.06795538	0.14129	0.07418007	0.16629	0.06795538	0.14129	-5.529	0.42139	T	.	.	0.053	0.01692	B	.;.;.;.	.;.;.;.	2.252065	0.28770	17.91	0.97314621209408192	0.33346	0.95896	0.66622	D	AEFGBI	0.270118	0.38625	N	-0.216092292811573	0.32472	1.831733	-0.212287760807896	0.31094	1.756544	0.997830341347561	0.36087	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.19	2.27	0.27501	2.670000	0.46499	1.350000	0.25801	0.599000	0.40250	0.940000	0.32642	0.004000	0.18990	0.951000	0.49849	0.0:0.7321:0.1267:0.1411	8.449	0.32019	879	0.29470	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	247.98	58	chr12	103979899	.	C	A	247.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.628;DP=983;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.89;MQRankSum=-4.816e+00;QD=4.96;ReadPosRankSum=-5.110e-01;SOR=0.495	GT:AD:DP:GQ:PL	0/1:38,12:50:99:262,0,1198	20	0	1	0
chr12	103984920	103984920	-	AGGATGCAAAGAAGATGGCT	exonic	TDG	.	frameshift insertion	TDG:NM_001363612:exon7:c.535_536insAGGATGCAAAGAAGATGGCT:p.V186Rfs*42	.	.	438	888	106	0	90	196	0.0563231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0029	0.0007	0.0010	0.0017	0.0008	0.0008	0.0015	0.0014	0.0009	0.0017	0.0024	0.0014	0.0011	0.0011	0.0007	0.0012	0.0017	3.977e-05	0.0003	3.886e-05	4.074e-05	0.0002	1.728e-05	1.138e-05	8.08e-06	3.02e-06	4.875e-05	0	0	0	0.0002	0.0002	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	2855.73	35	chr12	103984920	.	G	GA,GAGGATGCAAAGAAGATGGCT,GAGGATGCAAAGAAGATGGCTGTTAA,GAGGATGCAAAGAAGAT	2855.73	.	AC=6,1,3,1;AF=0.143,0.024,0.071,0.024;AN=42;BaseQRankSum=2.28;DP=2265;ExcessHet=7.7275;FS=9.950;InbreedingCoeff=-0.3548;MLEAC=6,1,3,1;MLEAF=0.143,0.024,0.071,0.024;MQ=58.63;MQRankSum=-9.857e+00;QD=1.88;ReadPosRankSum=-4.625e+00;SOR=2.064	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,16,0,0,0:133:99:0|1:103984920_G_GA:270,0,4866,624,4914,5538,624,4914,5538,5538,624,4914,5538,5538,5538:103984920	10	0	6	0
chr12	103984920	103984920	-	AGGATGCAAAGAAGATGGCTGTTAA	exonic	TDG	.	frameshift insertion	TDG:NM_001363612:exon7:c.535_536insAGGATGCAAAGAAGATGGCTGTTAA:p.E188Gfs*8	.	.	438	888	106	0	90	196	0.0563231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0003	9.285e-05	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	0.0004	0.0003	7.88e-05	0.0004	0.0002	0.0002	0.0001	0.0002	0.0001	6.627e-06	7.246e-05	0	1.357e-05	1.481e-05	0	0	.	.	0	0	0	0	0	0	0	1.481e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	2855.73	35	chr12	103984920	.	G	GA,GAGGATGCAAAGAAGATGGCT,GAGGATGCAAAGAAGATGGCTGTTAA,GAGGATGCAAAGAAGAT	2855.73	.	AC=6,1,3,1;AF=0.143,0.024,0.071,0.024;AN=42;BaseQRankSum=2.28;DP=2265;ExcessHet=7.7275;FS=9.950;InbreedingCoeff=-0.3548;MLEAC=6,1,3,1;MLEAF=0.143,0.024,0.071,0.024;MQ=58.63;MQRankSum=-9.857e+00;QD=1.88;ReadPosRankSum=-4.625e+00;SOR=2.064	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,16,0,0,0:133:99:0|1:103984920_G_GA:270,0,4866,624,4914,5538,624,4914,5538,5538,624,4914,5538,5538,5538:103984920	10	0	6	0
chr12	103984920	103984920	-	AGGATGCAAAGAAGAT	exonic	TDG	.	frameshift insertion	TDG:NM_001363612:exon7:c.535_536insAGGATGCAAAGAAGAT:p.M184Ifs*9	.	.	438	888	106	0	90	196	0.0563231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022	0.0098	0.0020	0.0024	0.0047	0.0021	0.0021	0.0044	0.0042	0.0028	0.0029	0.0047	0.0013	0.0014	0.0016	0.0020	0.0022	0.0047	1.988e-05	0.0002	0	4.073e-05	4.875e-05	5.29e-06	2.47e-06	8.08e-06	3.02e-06	4.875e-05	0	0	0	0	9.546e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	2855.73	35	chr12	103984920	.	G	GA,GAGGATGCAAAGAAGATGGCT,GAGGATGCAAAGAAGATGGCTGTTAA,GAGGATGCAAAGAAGAT	2855.73	.	AC=6,1,3,1;AF=0.143,0.024,0.071,0.024;AN=42;BaseQRankSum=2.28;DP=2265;ExcessHet=7.7275;FS=9.950;InbreedingCoeff=-0.3548;MLEAC=6,1,3,1;MLEAF=0.143,0.024,0.071,0.024;MQ=58.63;MQRankSum=-9.857e+00;QD=1.88;ReadPosRankSum=-4.625e+00;SOR=2.064	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,16,0,0,0:133:99:0|1:103984920_G_GA:270,0,4866,624,4914,5538,624,4914,5538,5538,624,4914,5538,5538,5538:103984920	10	0	6	0
chr12	103984922	103984922	-	TAAGGA	splicing	TDG	NM_001363612:exon7:c.535+2->TAAGGA;NM_003211:exon8:c.964+2->TAAGGA	.	.	.	.	444	951	105	0	22	127	0.0523169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.532e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.505e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	1501.77	35	chr12	103984922	.	T	G,TTAAGGA	1501.77	.	AC=6,1;AF=0.167,0.028;AN=36;BaseQRankSum=4.51;DP=2009;ExcessHet=2.5830;FS=10.970;InbreedingCoeff=-0.2537;MLEAC=7,1;MLEAF=0.194,0.028;MQ=58.73;MQRankSum=-1.024e+01;QD=1.56;ReadPosRankSum=-4.344e+00;SOR=2.106	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,16,0:134:99:0|1:103984920_G_GA:268,0,4908,624,4956,5580:103984920	11	0	6	3
chr12	103985730	103985730	-	GG	splicing	TDG	NM_001363612:exon8:c.661+2->GG;NM_003211:exon9:c.1090+2->GG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0014	0.0003	0.0006	0.0002	0.0008	0.0033	0.0030	3.84e-05	1	26028	rs749286024	0.0004	0.0057	0.0003	0.0004	0.0020	0.0004	0.0003	0.0017	0.0016	0.0007	0.0020	0.0004	0.0006	0.0007	0.0004	0.0002	0.0004	0.0014	4.013e-05	0.0061	5.227e-05	2.741e-05	9.835e-05	1.741e-05	1.146e-05	3.292e-05	1.943e-05	9.835e-05	0	0	0	0	9.669e-05	0	1.492e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	4718.56	63	chr12	103985730	.	T	TGGAGTTAAGAGGAG,TGGAGTTAAGAGGAGA,TGG	4718.56	.	AC=2,7,1;AF=0.048,0.167,0.024;AN=42;BaseQRankSum=3.76;DP=1742;ExcessHet=6.1002;FS=6.604;InbreedingCoeff=-0.3125;MLEAC=2,7,1;MLEAF=0.048,0.167,0.024;MQ=56.83;MQRankSum=-7.850e+00;QD=5.90;ReadPosRankSum=-3.934e+00;SOR=1.308	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:91,0,11,0:102:99:0|1:103985728_A_ATTGAGAGC:162,438,4215,0,3777,3744,438,4215,3777,4215:103985728	11	0	2	0
chr12	111598993	111598993	C	0	exonic	ATXN2	.	.	.	Spinocerebellar ataxia 2, Autosomal dominant	.	265	331	379	543	4	1469	0.688764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	29227.06	33	chr12	111598993	.	C	*,T	29227.06	.	AC=3,29;AF=0.071,0.690;AN=42;BaseQRankSum=-2.220e-01;DP=1084;ExcessHet=0.2067;FS=0.000;InbreedingCoeff=0.2125;MLEAC=3,29;MLEAF=0.071,0.690;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=-7.290e-01;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,4,46:50:22:1|0:111598949_GGCT_G:2125,1688,1915,178,0,22:111598949	2	0	0	0
chr12	112022598	112022598	C	G	exonic	ERP29	.	nonsynonymous SNV	ERP29:NM_006817:exon3:c.C732G:p.S244R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.01	B	0.006	B	0.000	D	1.000	N	-0.235	N	.	.	-0.985	T	0.035	T	0.222	-0.617	1.258	1.91	0.367	0.034	5.918	0.024	0.00251450127318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.14284	T	0.01	0.15535	B	0.006	0.12133	B	0.000074	0.52346	D	0.174068	1	0.81001	D	-0.315	0.03579	N	.	.	.	2.81	0.00170	N	0.19	0.22614	-0.9845	0.33951	T	0.035	0.15160	T	9	0.036563873	0.01961	T	0.002515	0.05009	T	0.024	0.04979	0.388	0.40951	0.278968121808	0.27521	0.2770171790625302	0.27614	0.222575520605	0.24794	0.736786007881	0.72500	T	0.09587	0.39710	T	-0.187	0.22699	T	-0.506389	0.21688	T	0.0392646235391162	0.03557	T	0.758424	0.38228	T	0.25631148	0.48669	0.123685546	0.29823	0.25631148	0.48669	0.123685546	0.29822	4.136	0.00007	T	.	.	0.768	0.75841	P	.;.	.;.	1.036915	0.14174	10.75	0.73783142045630035	0.10454	0.59777	0.31009	D	AEFDBHCI	0.405123	0.47813	N	-0.885709356935407	0.11182	0.5382435	-0.661028896847405	0.17938	0.9560947	0.999998771353767	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.75	1.91	0.24841	0.053000	0.14067	-0.208000	0.10880	-0.206000	0.08541	0.903000	0.31499	0.017000	0.20586	0.980000	0.58198	0.0:0.5146:0.2208:0.2647	5.918	0.18306	131	0.94738	Endoplasmic reticulum resident protein 29, C-terminal|Endoplasmic reticulum resident protein 29, C-terminal;Endoplasmic reticulum resident protein 29, C-terminal|Endoplasmic reticulum resident protein 29, C-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	1	0	0	0	0.02381	1166.98	35	chr12	112022598	.	C	G	1166.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.599e+00;DP=818;ExcessHet=0.0000;FS=0.765;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=-2.910e-01;SOR=0.829	GT:AD:DP:GQ:PL	0/1:50,49:99:99:1181,0,1286	20	0	1	0
chr12	121240525	121240525	-	TT	exonic	CAMKK2	.	frameshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAA:p.G539Kfs*6,	.	.	10	63	26	1	126	154	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/3:30,0,4,9,4,0:49:99:342,447,1724,113,1384,1349,0,1283,1200,1258,334,1111,766,658,1012,447,1724,1384,1283,1111,1724	4	0	0	0
chr12	121240525	121240525	-	TTT	exonic	CAMKK2	.	nonframeshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAAA:p.K538_G539insK,	.	.	10	63	26	1	126	154	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/3:30,0,4,9,4,0:49:99:342,447,1724,113,1384,1349,0,1283,1200,1258,334,1111,766,658,1012,447,1724,1384,1283,1111,1724	4	0	0	0
chr12	121240525	121240525	-	TTTT	exonic	CAMKK2	.	frameshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAAAA:p.G539Kfs*4,	.	.	10	63	26	1	126	154	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/3:30,0,4,9,4,0:49:99:342,447,1724,113,1384,1349,0,1283,1200,1258,334,1111,766,658,1012,447,1724,1384,1283,1111,1724	4	0	0	0
chr12	121240525	121240525	-	TTTTT	exonic	CAMKK2	.	frameshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAAAAA:p.G539Kfs*7,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/3:30,0,4,9,4,0:49:99:342,447,1724,113,1384,1349,0,1283,1200,1258,334,1111,766,658,1012,447,1724,1384,1283,1111,1724	4	0	0	0
chr12	121308554	121308554	G	A	exonic	ANAPC5	.	nonsynonymous SNV	ANAPC5:NM_001137559:exon17:c.C1858T:p.R620W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.994	D	0.502	P	0.008	N	1.000	D	1.24	L	-1.08	T	-0.331	T	0.339	T	0.443	4.177	21.6	4.65	2.646	2.014	10.866	0.401	0.0504457257343	0.0002	.	4.119e-05	9.617e-05	0	0	0	5.995e-05	0	0	5.17e-05	8	154602	rs373562790	7.388e-05	7.388e-05	7.351e-05	7.425e-05	8.453e-05	6.248e-05	5.807e-05	7.047e-05	6.54e-05	2.987e-05	0	0.0002	0	0	0	8.453e-05	0.0001	0	6.573e-05	6.567e-05	7.71e-05	5.382e-05	0.0001	3.518e-05	2.617e-05	5.843e-05	4.24e-05	2.413e-05	0	0	0.0003	0	0	0	0.0001	0	0	0.002	0.78490	D	0.003	0.76473	D	0.99	0.66517	D	0.402	0.47702	B	0.008164	0.30981	N	0.331999	0.970681	0.39432	D	0.805	0.20218	L	-1.08	0.77078	T	-3.36	0.74269	D	0.415	0.48780	-0.3308	0.74110	T	0.339	0.70494	T	10	0.32427078	0.49753	T	0.050446	0.64245	D	0.401	0.71479	.	.	0.708386449469	0.70584	0.5974652951340628	0.59677	1.22096986485	0.81087	0.389760792255	0.23636	T	0.131902	0.61869	T	-0.0826364	0.39285	T	-0.17495	0.56989	T	0.451890176566704	0.30866	T	0.963204	0.86318	D	0.19829056	0.41726	0.14876825	0.35154	0.19829056	0.41726	0.14876825	0.35153	-9.882	0.73202	D	.	.	0.151	0.33481	B	.;.;.;.	.;.;.;.	4.398631	0.67945	25.2	0.99919341340007395	0.98654	0.89187	0.49502	D	AEFBI	0.680447	0.64413	D	0.365792222596632	0.59578	4.138385	0.428072934613765	0.63319	4.563445	0.0214177847666011	0.13346	0.732398	0.92422	0	0.723133	0.82719	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.61	4.65	0.57626	2.035000	0.40776	4.069000	0.41649	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.6352:0.3648	10.866	0.46063	549	0.72275	.;.;.;.	.	.	.	.	.	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	0.02381	1933.98	42	chr12	121308554	.	G	A	1933.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.200e-01;DP=896;ExcessHet=0.0000;FS=2.487;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.92;ReadPosRankSum=0.465;SOR=0.517	GT:AD:DP:GQ:PL	0/1:107,88:195:99:1948,0,2469	20	0	1	0
chr12	122861718	122861718	-	T	exonic	HIP1R	.	frameshift insertion	HIP1R:NM_003959:exon32:c.3172_3173insT:p.D1058Vfs*23,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0003	2.3e-07	9e-08	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	0	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1766.94	34	chr12	122861718	.	G	GT	1766.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.280e-01;DP=821;ExcessHet=0.0000;FS=2.566;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.99;ReadPosRankSum=-4.810e-01;SOR=1.038	GT:AD:DP:GQ:PL	0/1:52,52:104:99:1781,0,1799	20	0	1	0
chr12	123203287	123203287	T	G	exonic	MPHOSPH9	.	nonsynonymous SNV	MPHOSPH9:NM_022782:exon9:c.A1283C:p.N428T,	.	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.023	B	0.011	B	0.465	N	1.000	N	0.895	L	1.54	T	-1.017	T	0.048	T	0.098	1.311	10.29	2.57	0.534	-0.096	6.793	0.028	0.00438294644411	.	.	.	.	.	.	.	.	.	.	.	.	.	rs376569615	4.79e-06	4.788e-06	5.447e-06	4.127e-06	0.0003	1.99e-06	1.28e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	3.312e-05	3.481e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.334	0.12961	T	0.548	0.10000	T	.	.	.	.	.	.	0.464856	0.12348	N	0.785491	0.982268	0.24977	N	2.045	0.56016	M	1.37	0.34253	T	-1.47	0.35991	N	0.191	0.20925	-1.0168	0.24755	T	0.048	0.20395	T	10	0.10810974	0.20111	T	0.004383	0.10687	T	0.028	0.06331	.	.	0.451310735921	0.44754	0.03588438258104054	0.03535	.	.	0.249590069056	0.03724	T	0.017476	0.14250	T	-0.34435	0.05093	T	-0.631781	0.10280	T	0.0410098377174784	0.03874	T	0.620138	0.24270	T	0.048737165	0.08542	0.07211557	0.15522	0.048737165	0.08542	0.07211557	0.15521	-3.251	0.13114	T	.	.	0.109	0.20741	B	.;.	.;.	1.381623	0.17928	13.45	0.93653087073858921	0.23538	0.79247	0.39233	D	AEFBI	0.098374	0.19825	N	-0.427843594066871	0.24497	1.323153	-0.263682580615281	0.29304	1.641	1.31549517206188E-4	0.05486	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	6.16	2.57	0.29928	-0.093000	0.11077	-0.550000	0.08534	0.665000	0.62972	0.840000	0.30285	0.017000	0.20586	0.997000	0.79791	0.0:0.1502:0.2929:0.5569	6.793	0.22894	538	0.73119	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	790.98	34	chr12	123203287	.	T	G	790.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.580e-01;DP=762;ExcessHet=0.0000;FS=0.978;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=-6.960e-01;SOR=0.512	GT:AD:DP:GQ:PL	0/1:32,33:65:99:805,0,839	20	0	1	0
chr12	124402521	124402521	-	GCTGCT	exonic	NCOR2	.	nonframeshift insertion	NCOR2:NM_001077261:exon16:c.1519_1520insAGCAGC:p.Q509_P510insQQ	.	.	0	15	9	3	199	214	0.333333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	2/2:2,0,55,0,0:57:86:2135,2142,2221,86,165,0,2142,2221,165,2221,2142,2221,165,2221,2221	0	1	2	0
chr12	124402521	124402521	-	GCT	exonic	NCOR2	.	nonframeshift insertion	NCOR2:NM_001077261:exon16:c.1519_1520insAGC:p.Q509_P510insQ	.	.	0	15	9	3	199	214	0.333333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	2/2:2,0,55,0,0:57:86:2135,2142,2221,86,165,0,2142,2221,165,2221,2142,2221,165,2221,2221	0	1	2	0
chr12	124402521	124402521	-	GCTGCTGCTGCT	exonic	NCOR2	.	nonframeshift insertion	NCOR2:NM_001077261:exon16:c.1519_1520insAGCAGCAGCAGC:p.Q509_P510insQQQQ	.	.	0	15	9	3	199	214	0.333333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	2/2:2,0,55,0,0:57:86:2135,2142,2221,86,165,0,2142,2221,165,2221,2142,2221,165,2221,2221	0	1	2	0
chr12	124402513	124402521	GCTGCTGCT	-	exonic	NCOR2	.	nonframeshift deletion	NCOR2:NM_001077261:exon16:c.1520_1528del:p.Q507_Q509del	.	.	0	15	9	3	199	214	0.333333	.	.	3196719	NCOR2-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0221645	0.0099	0.0012	0.0160	0.0761	0	0.0011	0.0117	0.0168	0.0047283	731	154602	rs559681337	0.0048	0.0047	0.0044	0.0052	0.0945	0.0047	0.0047	0.0918	0.0908	0.0009	0.0120	0.0002	0.0945	0.0004	0.0020	0.0006	0.0064	0.0186	0.0046	0.0047	0.0039	0.0054	0.0687	0.0044	0.0042	0.0627	0.0604	0.0012	0	0.0060	0	0.0687	0.0008	0	0.0010	0.0048	0.0268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	2/2:2,0,55,0,0:57:86:2135,2142,2221,86,165,0,2142,2221,165,2221,2142,2221,165,2221,2221	0	1	2	0
chr12	124430757	124430757	G	A	exonic	NCOR2	.	nonsynonymous SNV	NCOR2:NM_001077261:exon11:c.C913T:p.L305F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.998	D	0.003	N	1.000	D	1.845	L	0.62	T	-0.650	T	0.234	T	0.718	2.255	13.50	3.75	2.104	7.850	9.914	0.364	0.0244630492453	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.032	0.57587	D	0.998	0.73220	D	0.996	0.84481	D	0.002978	0.35639	N	0.187977	0.999996	0.81001	D	1.975	0.53506	M	0.62	0.53302	T	-3.42	0.72820	D	0.682	0.70263	-0.6498	0.62723	T	0.234	0.60026	T	10	0.60138535	0.66932	D	0.024463	0.47448	T	0.364	0.68407	0.364	0.37036	0.655744367491	0.65287	0.9560031147876591	0.95585	1.04679910713	0.75980	0.89358997345	0.95700	D	0.850955	0.96608	D	0.11494	0.65860	D	-0.0726728	0.65435	T	0.904618203639984	0.55813	D	0.991087	0.97264	D	0.2484968	0.47836	0.31409073	0.57402	0.2484968	0.47836	0.31409073	0.57401	-9.934	0.73516	D	.	.	0.988	0.92981	P	.;.;.;.;.;.	.;.;.;.;.;.	4.735021	0.76299	26.5	0.98097851791454838	0.38245	0.98799	0.87003	D	AEFBI	0.907928	0.86258	D	0.660444076156538	0.77046	6.599967	0.601750265313068	0.75068	6.245378	0.999999731709585	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.75	3.75	0.42236	8.178000	0.89637	8.176000	0.76768	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0952:0.0:0.9048:0.0	9.914	0.40594	474	0.77851	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	108.83	104	chr12	124430757	.	G	A	108.83	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-3.957e+00;DP=2018;ExcessHet=0.1072;FS=180.413;InbreedingCoeff=-0.0643;MLEAC=2;MLEAF=0.050;MQ=60.00;MQRankSum=0.00;QD=0.30;ReadPosRankSum=1.49;SOR=10.713	GT:AD:DP:GQ:PL	0/1:132,48:180:54:54,0,1880	18	0	2	1
chr12	125653605	125653605	C	T	exonic	TMEM132B	.	nonsynonymous SNV	TMEM132B:NM_001286219:exon5:c.C668T:p.S223L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.854	P	0.242	B	0.020	N	1.000	D	2.285	M	2.49	T	-1.087	T	0.050	T	0.761	2.914	15.71	5.55	2.612	5.789	19.501	0.251	0.0155138196393	.	.	3.339e-05	0	0	0.0001	0	1.512e-05	0	0.0001	2.59e-05	4	154602	rs760140118	5.411e-05	5.404e-05	5.176e-05	5.648e-05	0.0016	4.416e-05	4.087e-05	0.0013	0.0011	5.98e-05	0	0	0.0016	0	0	7.204e-06	1.658e-05	6.962e-05	4.6e-05	4.597e-05	7.71e-05	1.345e-05	0.0002	2.109e-05	1.527e-05	1.92e-05	1.032e-05	7.24e-05	0	6.543e-05	0	0.0002	0	0	2.94e-05	0	0	0.002	0.72154	D	0.011	0.64786	D	0.854	0.47077	P	0.242	0.38699	B	0.020004	0.27133	N	0.321128	0.999988	0.54805	D	3.105	0.87672	M	2.49	0.14531	T	-4.4	0.77308	D	0.623	0.68342	-1.0873	0.05995	T	0.050	0.21378	T	10	0.35027677	0.51903	T	0.015514	0.36282	T	0.251	0.56024	0.407	0.44066	0.128392430309	0.12331	0.5182048806584251	0.51743	0.573191580982	0.53386	0.597856462002	0.52601	T	0.202577	0.56079	T	-0.134741	0.30732	T	-0.130998	0.60888	T	0.699916243553162	0.40715	D	0.925008	0.76795	D	0.35189694	0.57214	0.44796294	0.67857	0.35189694	0.57214	0.44796294	0.67858	-6.32	0.48880	T	.	.	0.122	0.29088	B	.;.	.;.	3.465692	0.48328	22.6	0.99700445952281014	0.80591	0.95532	0.65096	D	AEFI	0.545069	0.55973	D	0.395343004220153	0.61168	4.314463	0.400333502277198	0.61584	4.360788	0.99956237555468	0.40425	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.564101	0.26826	0	.	.	5.55	5.55	0.83298	5.903000	0.69616	3.885000	0.40262	0.599000	0.40250	0.998000	0.41325	0.913000	0.28170	0.998000	0.85391	0.0:1.0:0.0:0.0	19.501	0.95085	938	0.14419	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	0	0	0	0	0	0	0	0	0	0	0	0.02381	1416.98	37	chr12	125653605	.	C	T	1416.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=798;ExcessHet=0.0000;FS=0.753;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=1.02;SOR=0.840	GT:AD:DP:GQ:PL	0/1:52,57:109:99:1431,0,1235	20	0	1	0
chr12	130437119	130437119	G	C	exonic	RIMBP2	.	nonsynonymous SNV	RIMBP2:NM_015347:exon11:c.C1778G:p.P593R	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.999	D	0.000	D	0.987	D	2.62	M	0.75	T	-0.526	T	0.225	T	0.349	1.672	11.55	2.64	0.332	3.914	10.555	0.183	0.143294494242	.	0.00119808	0.0007	0	0	0.0093	0	0	0.0019	0.0003	0.0004916	76	154602	rs2292664	0.0004	0.0004	0.0004	0.0004	0.0131	0.0004	0.0003	0.0121	0.0118	0	0	0	0.0131	0	0	9.128e-07	0.0002	0.0002	0.0002	0.0003	0.0002	0.0003	0.0071	0.0002	0.0002	0.0052	0.0046	0	0	0	0	0.0071	0	0	0	0	0.0002	0.001	0.78490	D	0.187	0.28764	T	1.0	0.90584	D	0.999	0.92359	D	0.000242	0.46924	D	0.142059	0.922021	0.40594	D	2.39	0.68882	M	0.75	0.50192	T	-3.02	0.62630	D	0.351	0.39254	-0.5262	0.67685	T	0.225	0.58881	T	10	0.0077821612	0.00177	T	0.143294	0.82562	D	0.183	0.45592	.	.	0.672161520982	0.66939	0.3965969653101858	0.39574	0.691092489446	0.60568	0.383977532387	0.22819	T	0.192949	0.54826	T	-0.398709	0.02361	T	-0.342326	0.40081	T	0.127147957180914	0.15116	T	0.845715	0.52486	T	0.22045465	0.44602	0.2046007	0.44591	0.22045465	0.44602	0.2046007	0.44590	-5.325	0.40190	T	.	.	0.107	0.22680	B	.;.;.	.;.;.	1.850008	0.23505	16.04	0.9973330801613971	0.82904	0.92541	0.55954	D	AEFDBCI	0.447456	0.50309	N	0.246863156066675	0.53482	3.517037	0.0592561765938687	0.42521	2.573328	3.85930225983454E-4	0.06781	0.638212	0.43195	0	0.670034	0.63936	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.49	2.64	0.30504	2.278000	0.43085	0.821000	0.21853	0.575000	0.29119	0.994000	0.38300	0.232000	0.23790	0.036000	0.13842	0.1601:0.0:0.8399:0.0	10.555	0.44301	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	0.02381	1855.98	34	chr12	130437119	.	G	C	1855.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.554e+00;DP=854;ExcessHet=0.0000;FS=0.604;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=-1.066e+00;SOR=0.636	GT:AD:DP:GQ:PL	0/1:66,83:149:99:1870,0,1545	20	0	1	0
chr12	131941301	131941301	G	A	exonic	PUS1	.	nonsynonymous SNV	PUS1:NM_001002019:exon5:c.G470A:p.R157Q	Myopathy, lactic acidosis, and sideroblastic anemia 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	1.0	D	0.998	D	0.000	D	1.000	D	2.25	M	0.51	T	-0.399	T	0.356	T	0.829	4.101	21.1	5.22	2.443	9.869	18.786	0.445	0.0242911245497	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs779185827	4.789e-06	4.788e-06	2.723e-06	6.876e-06	4.637e-05	1.99e-06	1.28e-06	1.583e-05	9.3e-06	2.987e-05	0	0	0	1.874e-05	0	0	1.656e-05	4.637e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	9.429e-05	0	0	0	0.0002	0.003	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.09	0.57893	M	0.48	0.55945	T	-3.76	0.73267	D	0.877	0.88577	-0.3992	0.72052	T	0.356	0.71912	T	10	0.69302225	0.71972	D	0.024291	0.47276	T	0.445	0.74727	0.44	0.49484	0.838460652392	0.83691	0.7683680329892292	0.76785	1.05796501594	0.76374	0.784415483475	0.79595	T	0.398313	0.75645	T	0.22369	0.76126	D	0.083539	0.75815	D	0.969949245452881	0.68771	D	0.987776	0.96221	D	0.8872151	0.90269	0.6786368	0.81122	0.8872151	0.90270	0.6786368	0.81123	-9.305	0.69940	D	0.5592651021166432	0.62715	0.402	0.63618	A	.;.;.;.;.	.;.;.;.;.	5.321022	0.89314	29.9	0.99942459232708292	0.99824	0.98545	0.83931	D	AEFBHCI	0.900565	0.84625	D	0.710564779672804	0.80326	7.269418	0.642392387708136	0.78046	6.797908	0.999999999999625	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.22	5.22	0.72285	9.889000	0.98569	11.681000	0.94222	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.343000	0.25501	0.0:0.0:1.0:0.0	18.786	0.91919	976	0.04745	.;.;.;.;.	.	.	.	.	.	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	0.02381	1572.98	40	chr12	131941301	.	G	A	1572.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.163;DP=854;ExcessHet=0.0000;FS=2.044;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.63;ReadPosRankSum=1.21;SOR=0.823	GT:AD:DP:GQ:PL	0/1:79,69:148:99:1587,0,1864	20	0	1	0
chr12	132013127	132013127	G	A	exonic	EP400	.	nonsynonymous SNV	EP400:NM_015409:exon17:c.G3560A:p.R1187H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.969	D	0.503	P	0.001	N	1.000	N	-0.36	N	-3.46	D	0.027	D	0.552	D	0.385	1.686	11.60	2.02	0.598	3.831	5.428	0.420	0.0639271140282	.	.	1.661e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs773523648	2.052e-05	2.052e-05	1.77e-05	2.338e-05	0.0007	1.456e-05	1.264e-05	0.0002	0.0001	2.987e-05	0	0	5.038e-05	0	0.0007	1.349e-05	0	9.276e-05	6.569e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.188	0.21304	T	0.104	0.38160	T	0.969	0.56768	D	0.503	0.47728	P	0.001054	0.40475	N	0.224051	0.650541	0.30537	N	.	.	.	-3.46	0.94508	D	-1.05	0.27463	N	0.361	0.40264	0.027	0.82784	D	0.552	0.83621	D	10	0.2563907	0.43043	T	0.063927	0.69118	D	0.420	0.72930	.	.	0.539212287204	0.53574	0.5438531293835784	0.54311	0.559664911382	0.52503	0.325194478035	0.14208	T	.	.	.	-0.0651159	0.42104	T	-0.0716318	0.65509	T	0.186971468117646	0.19664	T	0.924308	0.72323	D	.	.	.	.	.	.	.	.	-5.696	0.43658	T	.	.	0.079	0.07083	B	.;.	.;.	4.021135	0.59398	24.1	0.98407782016542467	0.41137	0.86179	0.45410	D	AEFDBI	0.116627	0.22882	N	-0.108986824586703	0.37001	2.146529	-0.0821319839208135	0.36128	2.098663	0.870393810048939	0.25404	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.27	2.02	0.25641	3.760000	0.54947	6.450000	0.55671	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.5675:0.0:0.4325:0.0	5.428	0.15734	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1660.98	37	chr12	132013127	.	G	A	1660.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.03;DP=839;ExcessHet=0.0000;FS=2.489;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.10;ReadPosRankSum=-3.890e-01;SOR=0.466	GT:AD:DP:GQ:PL	0/1:48,62:110:99:1675,0,1017	20	0	1	0
chr12	132148891	132149110	CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	-	exonic	NOC4L	.	frameshift deletion	NOC4L:NM_024078:exon9:c.897_901del:p.D299Efs*25,	.	.	422	945	57	36	62	191	0.063893	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0040	0.0042	0.0039	0.0041	0.0054	0.0037	0.0036	0.0045	0.0041	0.0042	0.0068	0.0054	0.0069	0.0014	0.0029	0.0072	0.0037	0.0095	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	21208.18	31	chr12	132148890	.	ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	ACCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC,ACCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC,A,ACCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	21208.18	.	AC=13,7,1,1;AF=0.310,0.167,0.024,0.024;AN=42;BaseQRankSum=0.920;DP=1350;ExcessHet=3.4384;FS=1.805;InbreedingCoeff=-0.1455;MLEAC=13,7,1,1;MLEAF=0.310,0.167,0.024,0.024;MQ=59.50;MQRankSum=-2.060e-01;QD=21.38;ReadPosRankSum=-1.910e-01;SOR=0.840	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:51,0,22,0,0:73:99:0|1:132148890_ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC_A:773,926,2796,0,1870,1802,926,2796,1870,2796,926,2796,1870,2796,2796:132148890	4	2	6	0
chr13	21155813	21155813	-	GGAG	splicing	SKA3	NM_145061:exon8:c.1120-2->CTCC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.943e-05	4.936e-05	2.111e-05	1.784e-05	.	1.242e-05	1.001e-05	.	.	0	0	0	0	0.0004	0	0	0	0	0.0005	0.0005	0.0003	0.0006	0.0022	0.0004	0.0003	0.0012	0.0009	0.0002	0	0.0007	0.0003	0.0006	0.0010	0	0.0004	0.0015	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	23464.59	54	chr13	21155813	.	T	TA,TAA,TGGAG	23464.59	.	AC=16,16,1;AF=0.381,0.381,0.024;AN=42;BaseQRankSum=-6.120e-01;DP=1495;ExcessHet=0.9430;FS=0.000;InbreedingCoeff=0.0104;MLEAC=16,16,1;MLEAF=0.381,0.381,0.024;MQ=60.00;MQRankSum=0.00;QD=23.19;ReadPosRankSum=0.381;SOR=0.664	GT:AD:DP:GQ:PL	0/1:22,22,0,0:44:99:442,0,435,508,501,1009,508,501,1009,1009	1	1	4	0
chr13	23660461	23660461	A	G	exonic	TNFRSF19	.	nonsynonymous SNV	TNFRSF19:NM_001204459:exon5:c.A311G:p.Q104R	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.198	B	0.082	B	0.001	N	0.635	D	1.355	L	1.88	T	-1.018	T	0.054	T	0.134	2.264	13.53	4.14	0.960	5.686	11.398	0.030	0.00845749091632	.	0.000199681	3.321e-05	0	0	0	0	6.04e-05	0	0	3.23e-05	5	154602	rs115547743	4.106e-06	4.104e-06	2.724e-06	5.502e-06	0.0002	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0.0002	4.496e-06	0	0	1.313e-05	1.312e-05	0	2.686e-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	0.037	0.43393	D	0.104	0.38305	T	0.117	0.29589	B	0.082	0.29098	B	0.001078	0.40389	N	0.297708	0.562995	0.32824	D	1.59	0.40313	L	1.88	0.23884	T	-1.52	0.53096	N	0.326	0.42541	-1.0180	0.24366	T	0.054	0.22770	T	10	0.21254066	0.37717	T	0.008457	0.22382	T	0.030	0.07022	.	.	0.165133752707	0.16062	0.7470538180014026	0.74651	0.108227509967	0.12199	0.38241070509	0.22598	T	0.299074	0.67161	T	-0.327932	0.06269	T	-0.552462	0.17091	T	0.213538408279419	0.21137	T	0.684832	0.29327	T	0.08130496	0.18674	0.112811536	0.27222	0.08130496	0.18673	0.112811536	0.27221	-3.33	0.14404	T	.	.	0.086	0.10594	B	.;.;.;.	.;.;.;.	1.886503	0.23959	16.22	0.98993239578810077	0.49983	0.98775	0.86692	D	AEFDBIJ	0.756352	0.69564	D	-0.178193249900644	0.34043	1.938459	-0.0789206574198096	0.36262	2.108134	0.99999999094427	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.622129	0.49086	0	.	.	5.33	4.14	0.47821	5.651000	0.67625	2.176000	0.31092	0.756000	0.94297	1.000000	0.71638	0.787000	0.26830	0.312000	0.24784	0.9286:0.0:0.0714:0.0	11.398	0.49092	970	0.06235	.;.;.;.	.	.	.	.	.	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	0.02381	1107.98	38	chr13	23660461	.	A	G	1107.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.451e+00;DP=853;ExcessHet=0.0000;FS=4.329;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.51;ReadPosRankSum=0.887;SOR=1.238	GT:AD:DP:GQ:PL	0/1:39,43:82:99:1122,0,1076	20	0	1	0
chr13	23891902	23891902	A	C	exonic	C1QTNF9B;PCOTH	.	nonsynonymous SNV	C1QTNF9B:NM_001007537:exon3:c.T389G:p.V130G	.	.	406	1101	15	0	0	15	0.0067659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.976	D	0.559	P	0.000	D	1.000	D	0.395	N	-1.83	D	-0.441	T	0.377	T	0.501	1.704	11.66	3.04	0.499	6.653	4.953	0.441	.	0.0011	.	0.0053	0.0010	0.0023	0	0.0055	0.0081	0.0139	0.0008	5.82e-05	9	154602	rs140408648	0.0038	0.0072	0.0040	0.0037	0.0080	0.0038	0.0037	0.0062	0.0055	0.0008	0.0015	0.0010	0	0.0019	0.0080	0.0046	0.0027	0.0004	0.0020	0.0045	0.0022	0.0018	0.0030	0.0018	0.0018	0.0027	0.0025	0.0009	0	0.0030	0	0	0.0013	0	0.0030	0.0024	0	0.173	0.22573	T	0.374	0.16280	T	0.976	0.58310	D	0.559	0.49531	P	0.000215	0.47681	D	0.140344	0.999999	0.81001	D	.	.	.	-1.83	0.84122	D	-2.26	0.50502	N	0.292	0.33030	-0.4410	0.70697	T	0.377	0.73445	T	10	0.01510039	0.00317	T	.	.	.	0.441	0.74447	.	.	0.866495554984	0.86519	0.40713664030771324	0.40629	1.31428007276	0.83300	0.441312164068	0.30756	T	0.008088	0.07445	T	0.0907628	0.63276	D	-0.107402	0.62818	T	0.0726806938428825	0.09022	T	0.551745	0.19033	T	0.1286578	0.30073	0.11022895	0.26577	0.1286578	0.30073	0.11022895	0.26576	-5.986	0.46163	T	.	.	0.137	0.29833	B	.;.	.;.	3.064739	0.41174	21.3	0.99018279218994965	0.50527	0.96645	0.70187	D	AEFDI	0.725150	0.67423	D	0.00559510834449038	0.42109	2.531043	-0.025503857379337	0.38567	2.274031	0.95648498402232	0.28250	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.26	3.04	0.34171	6.703000	0.74456	7.907000	0.73837	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.022000	0.11911	0.75:0.0:0.0871:0.1629	4.953	0.13375	340	0.86005	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	668.98	75	chr13	23891902	.	A	C	668.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.650e-01;DP=1705;ExcessHet=0.0000;FS=5.362;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=46.24;MQRankSum=-6.278e+00;QD=3.52;ReadPosRankSum=0.186;SOR=0.545	GT:AD:DP:GQ:PL	0/1:148,42:190:99:683,0,4078	20	0	1	0
chr13	24320996	24320996	G	C	exonic	C1QTNF9	.	nonsynonymous SNV	C1QTNF9:NM_001303138:exon4:c.G230C:p.G77A	.	.	445	1070	7	0	0	7	0.00326036	0.9962	0.964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.777	P	0.396	B	0.000	D	1.000	D	3.11	M	-6.27	D	0.377	D	0.903	D	0.751	2.743	15.13	4.1	2.250	8.441	13.947	0.846	.	0.0005	0.00658946	0.0078	0.0012	0.0651	0.0134	0	0.0002	0.0048	0.0001	0.0063324	979	154602	rs3751353	0.0025	0.0026	0.0028	0.0022	0.0577	0.0024	0.0024	0.0557	0.0549	0.0004	0.0577	0.0003	0.0287	9.486e-05	0.0002	0.0001	0.0014	0.0002	0.0028	0.0028	0.0026	0.0029	0.0198	0.0025	0.0025	0.0180	0.0172	0.0006	0	0.0198	0.0009	0.0143	0	0	0.0002	0.0035	0	0.006	0.61437	D	0.0	0.92824	D	0.777	0.44168	P	0.396	0.44364	B	0.000000	0.84330	D	0.000000	1	0.81001	D	3.215	0.89331	M	-6.27	0.99601	D	-4.88	0.81350	D	0.625	0.64393	0.377	0.88756	D	0.903	0.96789	D	9	0.0077015758	0.00175	T	.	.	.	0.846	0.95212	.	.	0.922458119316	0.92167	0.888045676207781	0.88773	.	.	0.575275659561	0.49421	T	0.732585	0.92528	D	0.0216165	0.54599	T	0.303836	0.88373	D	0.0857151762868732	0.10701	T	0.888611	0.61875	D	0.8907298	0.90570	0.78652304	0.87430	0.8907298	0.90571	0.78652304	0.87431	-10.505	0.76876	D	.	.	0.246	0.48050	B	.;.	.;.	6.804468	0.95758	35	0.99345736662123851	0.60371	0.99502	0.96805	D	AEFDI	0.926513	0.90773	D	0.590895057074402	0.72606	5.832239	0.558737376037225	0.72008	5.742537	0.999998576473596	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.1	4.1	0.47196	8.699000	0.91047	11.583000	0.93355	0.491000	0.22372	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0:1.0:0.0	13.947	0.63601	851	0.35303	.;.	.	.	.	.	.	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	0.02381	1712.98	34	chr13	24320996	.	G	C	1712.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.12;DP=779;ExcessHet=0.0000;FS=13.637;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=48.21;MQRankSum=0.769;QD=18.22;ReadPosRankSum=-2.916e+00;SOR=1.626	GT:AD:DP:GQ:PL	0/1:31,63:94:99:1727,0,531	20	0	1	0
chr13	26682861	26682861	C	T	exonic	WASF3	.	nonsynonymous SNV	WASF3:NM_001291965:exon9:c.C1229T:p.S410F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.998	D	0.991	D	0.000	D	1.000	D	0	N	0.29	T	-0.661	T	0.221	T	0.446	3.215	16.77	5.61	2.630	5.329	19.219	0.157	0.138822489009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.42487	D	0.058	0.46182	T	0.879	0.48338	P	0.526	0.48415	P	0.000491	0.43931	D	0.267954	0.999959	0.52396	D	1.265	0.31966	L	0.29	0.58897	T	-1.29	0.38734	N	0.583	0.60410	-0.6609	0.62236	T	0.221	0.58370	T	10	0.48717344	0.60777	T	0.138822	0.82131	D	0.157	0.40909	0.233	0.16155	0.128874641272	0.12493	0.24594197222090403	0.24508	0.884775936026	0.69930	0.719616174698	0.69991	T	0.104599	0.41430	T	-0.0136808	0.49750	T	-0.257428	0.49080	T	0.829827606678009	0.48517	D	0.770923	0.40135	T	0.11558683	0.27274	0.12924117	0.31079	0.11558683	0.27274	0.12924117	0.31078	-5.042	0.39665	T	.	.	0.136	0.29560	B	.;.	.;.	3.921280	0.57248	23.8	0.99708125997458008	0.81143	0.97821	0.77381	D	AEFDBI	0.507658	0.53787	D	0.167436796195141	0.49640	3.162181	0.192261991095381	0.49422	3.145583	0.999999998931887	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.61	5.61	0.85347	5.257000	0.65294	7.443000	0.58891	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.169000	0.20946	0.0:1.0:0.0:0.0	19.219	0.93776	928	0.17405	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	469.98	33	chr13	26682861	.	C	T	469.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.102e+00;DP=802;ExcessHet=0.0000;FS=0.939;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.53;ReadPosRankSum=-7.510e-01;SOR=0.892	GT:AD:DP:GQ:PL	0/1:47,25:72:99:484,0,1196	20	0	1	0
chr13	27567731	27567731	G	A	exonic	LNX2	.	nonsynonymous SNV	LNX2:NM_153371:exon4:c.C764T:p.T255I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.695	M	1.68	T	-0.647	T	0.215	T	0.742	4.332	22.8	5.62	2.650	9.476	19.652	0.542	0.109732186564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.715	0.79425	M	1.68	0.27184	T	-5.37	0.84882	D	0.887	0.88577	-0.6468	0.62853	T	0.215	0.57639	T	10	0.77334887	0.77259	D	0.109732	0.78683	D	0.542	0.80901	0.492	0.57890	0.691868247055	0.68922	0.7253653476099667	0.72480	0.275911508279	0.30067	0.854667246342	0.90317	D	0.168481	0.51550	T	0.117948	0.66165	D	-0.0683529	0.65744	T	0.998137950897217	0.93322	D	0.984002	0.94559	D	0.65862346	0.75826	0.58575594	0.75977	0.65862346	0.75827	0.58575594	0.75978	-12.701	0.88094	D	.	.	0.989	0.93326	P	.;.	.;.	5.190076	0.87047	29.1	0.99909993108014361	0.97949	0.99176	0.92349	D	AEFBI	0.875556	0.79904	D	0.856571637812008	0.89480	9.988767	0.790863805535736	0.89151	9.85857	0.99999999999868	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	9.602000	0.97623	11.818000	0.97148	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.708000	0.34389	0.0:0.0:1.0:0.0	19.652	0.95818	964	0.07719	PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ 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	0.02381	1746.98	33	chr13	27567731	.	G	A	1746.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.269;DP=836;ExcessHet=0.0000;FS=1.297;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.88;ReadPosRankSum=0.444;SOR=0.570	GT:AD:DP:GQ:PL	0/1:74,73:147:99:1761,0,1729	20	0	1	0
chr13	28322931	28322931	T	C	exonic	FLT1	.	nonsynonymous SNV	FLT1:NM_002019:exon21:c.A2812G:p.M938V,	.	.	430	1077	14	1	0	16	0.00737327	.	.	702653	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.59	T	0.0	B	0.002	B	0.949	N	1.000	N	0.625	N	-0.8	T	-0.978	T	0.140	T	0.048	-0.722	0.903	-9.27	-1.556	-3.196	8.255	0.071	.	0.0028	0.00359425	0.0032	0.0009	0.0010	0	0.0002	0.0032	0.0033	0.0093	0.0030465	471	154602	rs35549791	0.0026	0.0026	0.0023	0.0029	0.0087	0.0026	0.0025	0.0082	0.0080	0.0005	0.0016	0.0005	0	0.0002	0.0069	0.0025	0.0027	0.0087	0.0024	0.0024	0.0024	0.0024	0.0094	0.0022	0.0021	0.0072	0.0064	0.0007	0.0011	0.0043	0.0009	0.0002	0	0.0034	0.0030	0.0038	0.0094	0.554	0.06502	T	0.508	0.10893	T	0.0	0.02946	B	0.002	0.06944	B	0.948503	0.07640	N	1.021770	1	0.08975	N	0.615	0.15706	N	-0.8	0.73845	T	0.07	0.06138	N	0.111	0.09772	-0.9777	0.35526	T	0.140	0.45866	T	10	0.0031074882	0.00052	T	.	.	.	0.071	0.20720	.	.	0.228066490088	0.22430	0.3764998894323643	0.37563	0.286092782875	0.31015	0.251135587692	0.03888	T	0.331921	0.70194	T	-0.581191	0.00189	T	-0.601644	0.12674	T	0.00402470849751331	0.00043	T	0.278972	0.07508	T	0.01784996	0.00309	0.035179887	0.02721	0.01784996	0.00309	0.035179887	0.02721	-3.524	0.16769	T	.	.	0.053	0.00248	B	.;.	.;.	-1.978851	0.00106	0.002	0.32694068452336811	0.01908	0.01224	0.04337	N	AEFGBCI	0.063911	0.12380	N	-1.76704238412251	0.00631	0.02720725	-1.82360273110645	0.00686	0.03055535	0.99999999998648	0.74766	0.730579	0.87903	0	0.315538	0.05683	2	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.75	-9.27	0.00560	-2.987000	0.00723	-6.572000	0.01362	-1.475000	0.01066	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.089:0.5638:0.2136:0.1337	8.255	0.30908	922	0.19044	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	517.11	30	chr13	28322931	.	T	C	517.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-7.780e-01;DP=681;ExcessHet=0.1072;FS=2.090;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=7.28;ReadPosRankSum=-4.870e-01;SOR=0.419	GT:AD:DP:GQ:PL	0/1:22,15:37:99:283,0,600	19	0	2	0
chr13	38859428	38859428	G	C	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon14:c.G7357C:p.V2453L,	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.951	P	0.409	B	0.000	N	1.000	D	2.865	M	1.88	T	-0.981	T	0.091	T	0.248	3.297	17.08	4.14	0.938	4.903	8.428	0.156	0.0142809241756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.426e-06	0.0001	5.454e-06	1.377e-06	4.505e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.505e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.016	0.60972	D	.	.	.	.	.	.	0.000203	0.47681	N	0.139815	0.999998	0.58761	D	.	.	.	1.88	0.23884	T	-1.95	0.45222	N	0.416	0.45615	-0.9811	0.34748	T	0.091	0.34847	T	10	0.29562914	0.47131	T	0.014281	0.34290	T	0.156	0.40720	0.299	0.26522	0.426670027402	0.42282	0.510707213402808	0.50992	0.115962092506	0.13078	0.591294765472	0.51677	T	.	.	.	-0.139472	0.29976	T	-0.438119	0.29019	T	0.881288886070251	0.53134	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.57361	A	.	.	2.487454	0.32091	18.94	0.98227814918200052	0.39360	0.97595	0.75784	D	AEFBI	0.688535	0.64950	D	0.180157683667661	0.50246	3.21658	0.185006421886382	0.49024	3.110789	0.791277744604143	0.24019	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.86	4.14	0.47821	5.015000	0.63798	5.657000	0.49204	-0.816000	0.03012	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.063:0.1148:0.7031:0.1191	8.428	0.31901	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	1573.08	134	chr13	38859428	.	G	C	1573.08	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-4.318e+00;DP=3120;ExcessHet=17.4423;FS=268.600;InbreedingCoeff=-0.5351;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=0.70;ReadPosRankSum=0.855;SOR=13.744	GT:AD:DP:GQ:PL	0/1:94,49:143:99:124,0,1665	6	0	15	0
chr13	41614982	41614982	C	T	exonic	VWA8	.	nonsynonymous SNV	VWA8:NM_015058:exon38:c.G4714A:p.G1572R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.989	D	0.000	D	1.000	D	2.82	M	1.68	T	-0.669	T	0.216	T	0.966	5.450	35	6.08	2.894	7.408	18.436	0.560	0.0851744721853	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs756577838	1.095e-05	1.094e-05	1.226e-05	9.632e-06	5.979e-05	6.48e-06	5.25e-06	9.9e-06	3.7e-06	5.979e-05	2.236e-05	0	2.52e-05	0	0	8.994e-06	1.658e-05	1.16e-05	1.314e-05	1.313e-05	2.57e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.053135	1	0.81001	D	2.465	0.71551	M	1.68	0.27184	T	-7.22	0.94274	D	0.914	0.91621	-0.6690	0.61874	T	0.216	0.57836	T	10	0.85666496	0.84866	D	0.085174	0.74477	D	0.560	0.81946	0.49	0.57573	0.325533332567	0.32158	0.9426834397499202	0.94249	0.387741669221	0.40048	0.88566750288	0.94710	D	0.47063	0.80367	T	0.210379	0.74866	D	0.147283	0.80013	D	0.998420238494873	0.94111	D	0.90061	0.65471	D	0.7825639	0.82811	0.845212	0.91184	0.7825639	0.82813	0.845212	0.91184	-11.911	0.84414	D	.	.	0.974	0.90004	P	.	.	5.389913	0.90296	31	0.99944863188721167	0.99886	0.94287	0.60687	D	AEFDBCIJ	0.896857	0.83839	D	0.962850816716227	0.94480	12.79204	0.937440025844632	0.97007	15.45318	1.0	0.98316	0.693126	0.56070	0	0.653731	0.59785	0	0.659464	0.59346	0	0.654926	0.60358	0	.	.	6.08	6.08	0.98982	7.574000	0.81754	7.692000	0.65839	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:1.0:0.0:0.0	18.436	0.90595	674	0.60593	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1070.98	42	chr13	41614982	.	C	T	1070.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=797;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.45;ReadPosRankSum=0.881;SOR=0.793	GT:AD:DP:GQ:PL	0/1:43,43:86:99:1085,0,995	20	0	1	0
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.0	B	0.0	B	0.384	N	1.000	N	-1.1	N	1.03	T	-1.049	T	0.025	T	0.042	-1.565	0.015	-6.75	-1.034	0.234	0.459	0.040	0.00348779331928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0058	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0001	2.239e-05	0.0002	0.0001	0	0.0004	0.0002	0.0001	5.842e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732	0.03787	T	0.652	0.06690	T	0.0	0.02946	B	0.0	0.01387	B	0.384222	0.04439	N	1.329080	1	0.08975	N	-0.695	0.01866	N	1.03	0.40469	T	0.12	0.05604	N	0.01	0.00095	-1.0487	0.14761	T	0.025	0.10553	T	10	0.03053692	0.01181	T	0.003488	0.07908	T	0.040	0.10527	0.282	0.23801	0.174091166621	0.17034	0.08873411500846382	0.08806	0.0437477432083	0.04714	0.247362196445	0.03495	T	0.00156	0.01004	T	-0.357409	0.04279	T	-0.75117	0.03440	T	0.0190869918422606	0.00616	T	0.254375	0.03921	T	0.018132178	0.00335	0.025108913	0.00546	0.018132178	0.00334	0.025108913	0.00545	-2.626	0.06703	T	.	.	0.106	0.19839	B	.	.	-0.851205	0.01010	0.042	0.27875280092314592	0.01405	0.12762	0.17464	N	AEFBCI	0.031390	0.03350	N	-1.67084211627419	0.00950	0.04116467	-1.65714055191059	0.01339	0.06045885	0.999931029354219	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-6.75	0.01575	0.231000	0.17651	-0.238000	0.10617	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2747:0.1624:0.2842:0.2787	0.459	0.00478	675	0.60470	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	7061.0	123	chr13	42303097	.	G	C	7061.0	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-4.570e+00;DP=3154;ExcessHet=43.6797;FS=339.584;InbreedingCoeff=-0.9521;MLEAC=21;MLEAF=0.525;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=0.878;SOR=13.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:103,54:157:99:.:.:493,0,2416	0	0	20	1
chr13	48459808	48459808	T	C	exonic	RB1	.	nonsynonymous SNV	RB1:NM_000321:exon20:c.T2081C:p.L694P,	Bladder cancer, somatic;Osteosarcoma, somatic;Retinoblastoma, Autosomal dominant, Somatic mutation;Retinoblastoma, trilateral, Autosomal dominant, Somatic mutation;Small cell cancer of the lung, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.42	M	-3.77	D	1.097	D	0.943	D	0.995	4.463	23.8	5.48	2.086	7.698	15.564	0.976	0.602785562062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	5.093e-05	2.774e-06	0	1.836e-06	2.3e-07	9e-08	3.1e-07	1.1e-07	0	0	0	0	0	0	1.836e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	1	0.81001	D	3.345	0.91022	M	-3.77	0.95595	D	-6.07	0.89871	D	0.984	0.99337	1.097	0.99525	D	0.943	0.98136	D	10	0.9566928	0.95037	D	0.602786	0.96508	D	0.976	0.99783	0.78	0.90465	0.995699770876	0.99565	0.980477162488264	0.98038	1.68776258327	0.90085	0.897795319557	0.96192	D	0.975174	0.99754	D	0.560843	0.96253	D	0.567835	0.96194	D	0.999335587024689	0.97004	D	0.909909	0.68110	D	0.9948388	0.99958	0.97334516	0.99602	0.9948388	0.99958	0.97334516	0.99602	-13.406	0.90966	D	0.9398642061341252	0.97687	0.998	0.97486	P	.;.	.;.	5.226627	0.87722	29.3	0.99926600234762908	0.99103	0.97876	0.77794	D	AEFBI	0.964519	0.98666	D	0.915122981473785	0.92480	11.44748	0.844938188139194	0.92718	11.58983	0.999996381698106	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.674000	0.83146	7.932000	0.75071	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.564	0.76018	726	0.54788	Retinoblastoma-associated protein, B-box|Cyclin-like|Cyclin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.2619	1269.87	115	chr13	48459808	.	T	C	1269.87	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-3.482e+00;DP=2175;ExcessHet=7.7275;FS=135.304;InbreedingCoeff=-0.3657;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=0.91;ReadPosRankSum=0.896;SOR=12.258	GT:AD:DP:GQ:PL	0/1:80,37:117:99:132,0,1253	10	0	11	0
chr13	69882456	69882456	G	A	exonic	KLHL1	.	nonsynonymous SNV	KLHL1:NM_001286725:exon4:c.C871T:p.L291F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.995	D	0.000	D	0.987	D	3.165	M	-0.39	T	0.346	D	0.580	D	0.608	3.858	19.60	5.08	2.520	4.058	18.834	0.426	0.0648284192983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.021	0.63109	D	0.998	0.73220	D	0.992	0.80445	D	0.000036	0.55875	D	0.000000	0.986518	0.40444	D	2.89	0.83701	M	-0.39	0.69158	T	-2.91	0.60982	D	0.547	0.58629	0.346	0.88281	D	0.580	0.84898	D	10	0.5550405	0.64469	D	0.064828	0.69397	D	0.426	0.73372	0.457	0.52265	0.77630264569	0.77424	0.20463235290269857	0.20380	0.210258746393	0.23511	0.712280154228	0.68924	T	0.595999	0.86982	D	0.0531689	0.58749	T	-0.161403	0.58226	T	0.988282024860382	0.78636	D	0.964204	0.86724	D	0.46265322	0.64836	0.37256262	0.62462	0.46265322	0.64837	0.37256262	0.62462	-10.752	0.78280	D	.	.	0.481	0.63722	A	.;.	.;.	5.474448	0.91308	32	0.99901283922638506	0.97275	0.94895	0.62702	D	AEFI	0.697597	0.65555	D	0.812871305168358	0.86905	9.037639	0.740323524884371	0.85433	8.578981	0.985978107960792	0.30982	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	3.554000	0.53466	11.664000	0.94021	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.834	0.92121	907	0.22727	BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.375	1218.29	151	chr13	69882456	.	G	A	1218.29	.	AC=15;AF=0.375;AN=40;BaseQRankSum=-2.253e+00;DP=2755;ExcessHet=17.4423;FS=173.681;InbreedingCoeff=-0.5810;MLEAC=15;MLEAF=0.375;MQ=60.00;MQRankSum=0.00;QD=0.68;ReadPosRankSum=0.201;SOR=13.428	GT:AD:DP:GQ:PL	0/1:73,34:131:88:88,0,926	5	0	15	1
chr13	78602198	78602199	CG	-	exonic	POU4F1	.	frameshift deletion	POU4F1:NM_006237:exon2:c.476_477del:p.P159Rfs*189,	.	.	1459	28	0	12	23	47	0.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1431309808	0.0006	0.0017	0.0007	0.0006	0.0035	0.0005	0.0005	0.0005	0.0005	0.0003	0.0035	0	0.0011	0	0	0.0006	0.0007	0.0002	0	8.318e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	39.59	36	chr13	78602197	.	CCG	C,*	39.59	.	AC=1,1;AF=0.125,0.125;AN=8;BaseQRankSum=-6.740e-01;DP=36;ExcessHet=0.6695;FS=3.979;MLEAC=3,3;MLEAF=0.375,0.375;MQ=60.00;MQRankSum=0.00;QD=7.92;ReadPosRankSum=-6.740e-01;SOR=1.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,1,0:2:18:0|1:78602197_CCG_C:39,0,18,42,21,63:78602197	2	0	1	17
chr13	78602197	78602199	CCG	0	exonic	POU4F1	.	.	.	.	.	1459	28	0	12	23	47	0.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	39.59	36	chr13	78602197	.	CCG	C,*	39.59	.	AC=1,1;AF=0.125,0.125;AN=8;BaseQRankSum=-6.740e-01;DP=36;ExcessHet=0.6695;FS=3.979;MLEAC=3,3;MLEAF=0.375,0.375;MQ=60.00;MQRankSum=0.00;QD=7.92;ReadPosRankSum=-6.740e-01;SOR=1.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,1,0:2:18:0|1:78602197_CCG_C:39,0,18,42,21,63:78602197	2	0	1	17
chr13	78602201	78602201	G	0	exonic	POU4F1	.	.	.	.	.	1471	16	0	12	23	47	0.428571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	41.11	33	chr13	78602201	.	G	C,*	41.11	.	AC=1,1;AF=0.167,0.167;AN=6;BaseQRankSum=-6.740e-01;DP=33;ExcessHet=0.9691;FS=3.979;MLEAC=3,3;MLEAF=0.500,0.500;MQ=60.00;MQRankSum=0.00;QD=8.22;ReadPosRankSum=-6.740e-01;SOR=1.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,1,0:2:18:0|1:78602197_CCG_C:39,0,18,42,21,63:78602197	1	0	1	18
chr13	102736808	102736808	A	T	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.T13889A:p.M4630K,	.	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.615	P	0.241	B	0.366	N	1.000	N	.	.	3.78	T	-0.970	T	0.002	T	0.48	1.026	9.190	-1.42	-0.246	-0.495	7.263	0.091	.	.	0.00978435	0.0024	0	0.0024	0.0482	0	0.0005	0	0.0016	0.0008797	136	154602	rs117984168	0.0020	0.0020	0.0020	0.0020	0.0573	0.0020	0.0019	0.0553	0.0544	0	0.0006	0.0006	0.0573	0.0071	0.0007	0.0002	0.0018	0.0015	0.0024	0.0024	0.0018	0.0031	0.0460	0.0022	0.0021	0.0412	0.0393	0	0	0.0006	0.0012	0.0460	0.0075	0	0.0004	0.0009	0.0017	.	.	.	0.057	0.46406	T	.	.	.	.	.	.	0.365894	0.13600	N	0.608106	0.999634	0.20820	N	.	.	.	.	.	.	.	.	.	0.442	0.48042	-0.9696	0.37283	T	0.002	0.00526	T	9	0.002716124	0.00042	T	.	.	.	0.091	0.26358	.	.	0.0138822411134	0.00435	0.051300353339956466	0.05072	.	.	0.312669038773	0.12310	T	.	.	.	-0.450466	0.01122	T	-0.380363	0.35679	T	0.0162458400719084	0.00397	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.26762	B	.	.	-0.515909	0.01816	0.143	0.77338607226265654	0.11834	0.05805	0.11742	N	AEFBI	0.010470	0.00075	N	-0.912488897186837	0.10549	0.5046269	-1.08442591907269	0.08007	0.3918232	0.937550014474001	0.27302	0.516011	0.20929	0	0.610034	0.51514	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	3.77	-1.42	0.08446	-0.615000	0.05693	-0.229000	0.10694	-0.070000	0.16343	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5555:0.0:0.4445:0.0	7.263	0.25390	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1785.98	63	chr13	102736808	.	A	T	1785.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.69;DP=2032;ExcessHet=0.0000;FS=3.441;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.25;ReadPosRankSum=0.912;SOR=0.861	GT:AD:DP:GQ:PL	0/1:124,69:193:99:1800,0,3508	20	0	1	0
chr13	102737670	102737670	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G13027C:p.V4343L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.296e-05	0.0009	1.28e-05	1.313e-05	3.19e-05	8.1e-06	6.68e-06	9.68e-06	7.91e-06	3.19e-05	0	0	0	0	0	1.589e-05	0	0	6.741e-06	1.989e-05	0	1.384e-05	1.492e-05	0	0	.	.	0	0	0	0	0	0	0	1.492e-05	0	0	.	.	.	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.16028	.	.	.	.	.	.	.	0.08621222	0.14631	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.08298472189106709	0.08233	.	.	0.344727694988	0.17142	T	.	.	.	-0.118802	0.33320	T	-0.408427	0.32407	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.43882	B	.	.	-0.018962	0.04151	0.996	0.36670154075650313	0.02372	0.03259	0.08291	N	AEFBI	.	.	.	.	.	.	.	.	.	0.929394545130418	0.26967	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0516762	0.10602	2.37	-0.837	0.10221	0.258000	0.18156	-2.744000	0.03406	0.581000	0.30040	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4159:0.0:0.5841	5.246	0.14815	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3125	1289.7	107	chr13	102737670	.	C	G	1289.7	.	AC=10;AF=0.313;AN=32;BaseQRankSum=-5.420e+00;DP=3587;ExcessHet=6.1002;FS=265.418;InbreedingCoeff=-0.4269;MLEAC=12;MLEAF=0.375;MQ=60.00;MQRankSum=0.00;QD=0.67;ReadPosRankSum=1.50;SOR=12.784	GT:AD:DP:GQ:PL	0/1:161,53:214:99:215,0,3677	6	0	10	5
chr13	102747739	102747739	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G2958C:p.K986N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.50809	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.03841	.	.	.	.	.	.	.	0.071324736	0.10499	T	.	.	.	.	.	.	.	0.0716867268079	0.06686	0.029755569922110755	0.02924	.	.	0.339609414339	0.16379	T	.	.	.	-0.183105	0.23276	T	-0.500794	0.22266	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.484	0.63867	A	.	.	2.482158	0.32012	18.91	0.76786657609047815	0.11609	0.06593	0.12608	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.974835266602416	0.29578	0.07523	0.01759	0	0.085267	0.02369	0	0.063197	0.01477	0	0.091162	0.02695	0	0.166294	0.28576	4.21	2.49	0.29274	0.370000	0.20166	-0.592000	0.08316	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.974000	0.55675	0.0:0.7826:0.0:0.2174	6.417	0.20924	939	0.14249	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2727	319.73	161	chr13	102747739	.	C	G,T	319.73	.	AC=3,3;AF=0.136,0.136;AN=22;BaseQRankSum=-5.526e+00;DP=4353;ExcessHet=1.7912;FS=296.348;InbreedingCoeff=-0.3527;MLEAC=4,4;MLEAF=0.182,0.182;MQ=60.00;MQRankSum=0.00;QD=0.21;ReadPosRankSum=1.04;SOR=13.436	GT:AD:DP:GQ:PL	0/1:147,62,37:246:91:91,0,3286,211,3146,3557	5	0	3	10
chr13	110456942	110456942	-	ATCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCG	exonic	COL4A2-AS2	.	nonframeshift insertion	COL4A2-AS2:NM_001267044:exon5:c.782_783insCGGCATCAGCCCCACGGACGCCTGGGGTCCCACGCAGAT:p.Q261delinsHGISPTDAWGPTQM,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.675e-05	1.751e-05	4.763e-05	4.61e-05	6.815e-05	2.14e-05	1.547e-05	2.59e-05	1.645e-05	0	6.655e-05	0	0	0	0	6.815e-05	0	3.383e-05	0.0016	0.0016	0.0018	0.0013	0.0021	0.0013	0.0012	0.0016	0.0015	0.0012	0	0.0008	0.0017	0.0005	0.0012	0	0.0021	0.0015	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	4291.37	62	chr13	110456942	.	C	G,CATCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCG	4291.37	.	AC=8,1;AF=0.444,0.056;AN=18;BaseQRankSum=2.30;DP=1158;ExcessHet=7.4688;FS=8.528;InbreedingCoeff=-0.4044;MLEAC=13,2;MLEAF=0.722,0.111;MQ=48.92;MQRankSum=2.86;QD=7.68;ReadPosRankSum=-4.184e+00;SOR=1.261	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,15,0:59:99:0|1:110456942_C_G:318,0,1563,449,1607,2057:110456942	0	0	8	12
chr13	112547532	112547547	ACGTGCATGGGAAAGT	0	exonic	TUBGCP3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	22922.08	213	chr13	112547532	.	ACGTGCATGGGAAAGT	A,*	22922.08	.	AC=6,1;AF=0.143,0.024;AN=42;BaseQRankSum=0.389;DP=2588;ExcessHet=2.5830;FS=1.106;InbreedingCoeff=-0.2000;MLEAC=6,1;MLEAF=0.143,0.024;MQ=59.97;MQRankSum=0.00;QD=14.52;ReadPosRankSum=0.139;SOR=0.783	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,101,0:212:99:0|1:112547505_C_T:3840,0,4258,4174,4562,8736:112547505	14	0	6	0
chr13	112547554	112547568	TGGGAAAGTCGCGCG	-	exonic	TUBGCP3	.	nonframeshift deletion	TUBGCP3:NM_001286279:exon10:c.1220_1234del:p.T412_P416del,	.	.	0	82	50	8	86	152	0.286957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22322.88	182	chr13	112547538	.	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	ATGGGAAAGTCGCGCG,GTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG,A,*,ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	22322.88	.	AC=7,1,1,7,1;AF=0.167,0.024,0.024,0.167,0.024;AN=42;BaseQRankSum=0.234;DP=3259;ExcessHet=2.4516;FS=0.000;InbreedingCoeff=-0.0871;MLEAC=7,1,1,7,1;MLEAF=0.167,0.024,0.024,0.167,0.024;MQ=59.98;MQRankSum=0.00;QD=9.16;ReadPosRankSum=0.134;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0|4:111,0,0,0,101,0:212:99:0|1:112547505_C_T:3840,4174,8736,4174,8736,8736,4174,8736,8736,8736,0,4562,4562,4562,4258,4174,8736,8736,8736,4562,8736:112547505	7	0	5	0
chr13	112547538	112547568	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	0	exonic	TUBGCP3	.	.	.	.	.	0	82	50	8	86	152	0.286957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22322.88	182	chr13	112547538	.	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	ATGGGAAAGTCGCGCG,GTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG,A,*,ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	22322.88	.	AC=7,1,1,7,1;AF=0.167,0.024,0.024,0.167,0.024;AN=42;BaseQRankSum=0.234;DP=3259;ExcessHet=2.4516;FS=0.000;InbreedingCoeff=-0.0871;MLEAC=7,1,1,7,1;MLEAF=0.167,0.024,0.024,0.167,0.024;MQ=59.98;MQRankSum=0.00;QD=9.16;ReadPosRankSum=0.134;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0|4:111,0,0,0,101,0:212:99:0|1:112547505_C_T:3840,4174,8736,4174,8736,8736,4174,8736,8736,8736,0,4562,4562,4562,4258,4174,8736,8736,8736,4562,8736:112547505	7	0	5	0
chr13	112547568	112547568	-	TGGGAAAGTCGCGCG	exonic	TUBGCP3	.	nonframeshift insertion	TUBGCP3:NM_001286279:exon10:c.1219_1220insCGCGCGACTTTCCCA:p.P416_M417insTRDFP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22322.88	182	chr13	112547538	.	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	ATGGGAAAGTCGCGCG,GTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG,A,*,ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	22322.88	.	AC=7,1,1,7,1;AF=0.167,0.024,0.024,0.167,0.024;AN=42;BaseQRankSum=0.234;DP=3259;ExcessHet=2.4516;FS=0.000;InbreedingCoeff=-0.0871;MLEAC=7,1,1,7,1;MLEAF=0.167,0.024,0.024,0.167,0.024;MQ=59.98;MQRankSum=0.00;QD=9.16;ReadPosRankSum=0.134;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0|4:111,0,0,0,101,0:212:99:0|1:112547505_C_T:3840,4174,8736,4174,8736,8736,4174,8736,8736,8736,0,4562,4562,4562,4258,4174,8736,8736,8736,4562,8736:112547505	7	0	5	0
chr13	112547565	112547565	C	0	exonic	TUBGCP3	.	.	.	.	.	443	851	116	13	99	241	0.0770065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	24873.61	185	chr13	112547565	.	C	T,*	24873.61	.	AC=7,1;AF=0.167,0.024;AN=42;BaseQRankSum=0.983;DP=2360;ExcessHet=3.5521;FS=1.103;InbreedingCoeff=-0.2353;MLEAC=7,1;MLEAF=0.167,0.024;MQ=59.97;MQRankSum=0.00;QD=16.56;ReadPosRankSum=-7.970e-01;SOR=0.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,93,0:179:99:0|1:112547505_C_T:3562,0,3166,3821,3447,7267:112547505	13	0	7	0
chr13	113064409	113064409	T	G	exonic	MCF2L	.	nonsynonymous SNV	MCF2L:NM_001366645:exon4:c.T481G:p.C161G	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.108	B	0.062	B	0.000	D	1.000	D	1.1	L	2.61	T	-1.030	T	0.025	T	0.515	1.970	12.54	3.84	0.767	3.650	6.538	0.133	0.0136684368666	0.0005	0.000599042	0.0008	0	0.0003	0	0.0002	0.0008	0.0023	0.0019	0.0007374	114	154602	rs201672761	0.0008	0.0008	0.0007	0.0009	0.0016	0.0007	0.0007	0.0014	0.0013	2.987e-05	0.0004	7.656e-05	2.519e-05	0.0001	0.0009	0.0008	0.0006	0.0016	0.0005	0.0005	0.0006	0.0004	0.0012	0.0004	0.0004	0.0008	0.0008	7.214e-05	0	6.535e-05	0.0003	0	0	0	0.0010	0.0009	0.0012	0.328	0.13219	T	0.34	0.18846	T	0.066	0.23586	B	0.019	0.26930	B	0.000013	0.62929	D	0.118224	0.581767	0.33391	D	2.08	0.57402	M	2.61	0.13095	T	-1.58	0.48687	N	0.538	0.56919	-1.0302	0.20390	T	0.025	0.10553	T	10	0.017061472	0.00362	T	0.013668	0.33248	T	0.133	0.36157	.	.	0.686437061672	0.68375	0.34150924698799245	0.34063	0.46112784952	0.45662	0.42618778348	0.28687	T	0.051583	0.28921	T	-0.44994	0.01130	T	-0.426348	0.30350	T	0.0318019585729775	0.02274	T	0.936606	0.76191	D	0.26149604	0.49208	0.13839795	0.33053	0.26149604	0.49208	0.13839795	0.33053	-11.571	0.82997	D	.	.	0.075	0.19316	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.919684	0.38759	20.8	0.88242816941992264	0.17825	0.71176	0.34901	D	AEFDGBCI	0.826229	0.74576	D	-0.250534243171865	0.31081	1.739358	-0.0983262092720492	0.35459	2.051781	0.999999992461113	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.02	3.84	0.43422	1.844000	0.38910	3.332000	0.37635	0.665000	0.62972	0.997000	0.40164	1.000000	0.68203	0.986000	0.61781	0.1378:0.076:0.0:0.7862	6.538	0.21562	994	0.00715	.;.;.;.;.;.;.	.	.	.	.	.	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	0.02381	1463.98	34	chr13	113064409	.	T	G	1463.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.636e+00;DP=797;ExcessHet=0.0000;FS=6.850;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.64;ReadPosRankSum=-1.860e+00;SOR=0.266	GT:AD:DP:GQ:PL	0/1:43,57:100:99:1478,0,1111	20	0	1	0
chr13	113404037	113404180	GAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGCTCCTGAGCCCCTTTCTGGGCCTGTTCCC	-	exonic	LOC101928841	.	nonframeshift deletion	LOC101928841:NM_001304433:exon2:c.4010_4153del:p.R1337_A1384del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.328e-05	5.978e-05	7.075e-05	7.6e-05	0.0011	5.635e-05	5.085e-05	0.0002	8.021e-05	7.456e-05	0	0.0001	4.061e-05	0	0.0011	7.967e-05	3.474e-05	0	0.0002	0.0003	0.0002	0.0002	0.0003	0.0001	0.0001	8.59e-05	4.619e-05	0.0001	0	0.0003	0.0026	0	0.0005	0	0.0001	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	54.94	37	chr13	113404036	.	TGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGCTCCTGAGCCCCTTTCTGGGCCTGTTCCC	T	54.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.370e-01;DP=3243;ExcessHet=0.0000;FS=0.562;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.89;MQRankSum=4.47;QD=0.12;ReadPosRankSum=1.66;SOR=0.631	GT:AD:DP:GQ:PL	0/1:147,315:462:69:69,0,5434	20	0	1	0
chr13	113404039	113404049	GCCCGTTCCTG	-	exonic	LOC101928841	.	frameshift deletion	LOC101928841:NM_001304433:exon2:c.4141_4151del:p.Q1381Sfs*75	.	.	1	219	1	0	5	6	0.0022779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.909e-05	3.923e-05	2.142e-05	3.737e-05	2.663e-05	2.093e-05	1.847e-05	1.852e-05	1.573e-05	0	0	6.216e-05	0	0.0002	0	2.663e-05	2.094e-05	0	8.21e-05	0.0001	0.0001	4.207e-05	0.0001	4.669e-05	3.648e-05	7.043e-05	5.188e-05	0	0	0	0.0003	0	0.0002	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	855.03	37	chr13	113404038	.	AGCCCGTTCCTG	A,*	855.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-1.527e+00;DP=3411;ExcessHet=0.1072;FS=0.523;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=58.29;MQRankSum=1.52;QD=0.97;ReadPosRankSum=-3.340e+00;SOR=0.640	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:147,0,315:462:69:.:.:69,505,6308,0,5803,5434	19	0	1	0
chr13	113404038	113404049	AGCCCGTTCCTG	0	exonic	LOC101928841	.	.	.	.	.	1	219	1	0	5	6	0.0022779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	855.03	37	chr13	113404038	.	AGCCCGTTCCTG	A,*	855.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-1.527e+00;DP=3411;ExcessHet=0.1072;FS=0.523;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=58.29;MQRankSum=1.52;QD=0.97;ReadPosRankSum=-3.340e+00;SOR=0.640	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:147,0,315:462:69:.:.:69,505,6308,0,5803,5434	19	0	1	0
chr13	113404039	113404039	G	0	exonic	LOC101928841	.	.	.	.	.	897	593	26	2	4	34	0.0246711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	3720.46	37	chr13	113404039	.	G	A,*	3720.46	.	AC=2,2;AF=0.048,0.048;AN=42;BaseQRankSum=-2.469e+00;DP=3657;ExcessHet=0.6776;FS=0.537;InbreedingCoeff=-0.1053;MLEAC=2,2;MLEAF=0.048,0.048;MQ=58.82;MQRankSum=-5.980e-01;QD=2.30;ReadPosRankSum=1.26;SOR=0.677	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:147,0,315:462:69:.:.:69,505,6308,0,5803,5434	17	0	2	0
chr13	113404050	113404219	AGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGCTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAG	0	exonic	LOC101928841	.	.	.	.	.	1	193	1	0	31	32	0.00258398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	593.03	37	chr13	113404050	.	AGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGCTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAG	*,A	593.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-7.140e-01;DP=3098;ExcessHet=0.1072;FS=1.113;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=57.79;MQRankSum=4.04;QD=0.61;ReadPosRankSum=-3.346e+00;SOR=0.637	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,315,0:477:99:0|1:113404045_TCCTG_*:117,0,5418,1475,6445,11250:113404045	19	0	1	0
chr13	113404051	113404219	GCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGCTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAG	-	exonic	LOC101928841	.	frameshift deletion	LOC101928841:NM_001304433:exon2:c.3971_4139del:p.A1324Vfs*15	.	.	1	193	1	0	31	32	0.00258398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.738e-06	5.525e-06	0	3.621e-06	1.037e-06	2.9e-07	1.1e-07	.	.	0	0	0	0	0	0	1.037e-06	2.147e-05	0	7.344e-06	7.168e-06	0	1.508e-05	1.599e-05	0	0	.	.	0	0	0	0	0	0	0	1.599e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	593.03	37	chr13	113404050	.	AGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGCTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAG	*,A	593.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-7.140e-01;DP=3098;ExcessHet=0.1072;FS=1.113;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=57.79;MQRankSum=4.04;QD=0.61;ReadPosRankSum=-3.346e+00;SOR=0.637	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,315,0:477:99:0|1:113404045_TCCTG_*:117,0,5418,1475,6445,11250:113404045	19	0	1	0
chr13	113404072	113404072	C	T	exonic	LOC101928841	.	nonsynonymous SNV	LOC101928841:NM_001304433:exon2:c.G4118A:p.R1373Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs1175940521	0.0002	0.0006	0.0002	0.0002	0.0024	0.0002	0.0002	0.0012	0.0009	6.948e-05	0.0024	0.0015	6.119e-05	0.0011	0.0011	0.0001	0.0003	0.0010	0.0011	0.0036	0.0012	0.0009	0.0021	0.0008	0.0007	0.0008	0.0006	0.0010	0	0.0016	0.0075	0.0021	0.0010	0	0.0004	0.0068	0	.	.	.	0.392	0.15406	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.01658	.	.	.	.	.	.	.	0.06473833	0.08630	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00652	0.05951	T	.	.	.	.	.	.	.	.	.	0.494351	0.15306	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.10014	B	.	.	0.023703	0.04450	1.173	0.56905517594466126	0.05653	0.00019	0.00214	N	AEFBI	.	.	.	.	.	.	.	.	.	0.9873297687184	0.31238	0.056701	0.00814	0	0.085267	0.02369	0	0.074216	0.02223	0	0.079188	0.02158	0	0.0518733	0.10782	2.74	-0.191	0.12601	-2.302000	0.01217	.	.	-1.856000	0.00566	0.000000	0.06391	.	.	0.000000	0.00833	0.1706:0.1117:0.176:0.5417	1.443	0.02216	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	379.15	37	chr13	113404072	.	C	T,*	379.15	.	AC=2,2;AF=0.048,0.048;AN=42;DP=2873;ExcessHet=0.0082;FS=0.000;InbreedingCoeff=0.4474;MLEAC=2,2;MLEAF=0.048,0.048;MQ=42.22;QD=0.38;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:161,0,315:477:99:0|1:113404045_TCCTG_*:117,1475,11250,0,6445,5418:113404045	18	1	0	0
chr13	113404072	113404072	C	0	exonic	LOC101928841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	379.15	37	chr13	113404072	.	C	T,*	379.15	.	AC=2,2;AF=0.048,0.048;AN=42;DP=2873;ExcessHet=0.0082;FS=0.000;InbreedingCoeff=0.4474;MLEAC=2,2;MLEAF=0.048,0.048;MQ=42.22;QD=0.38;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:161,0,315:477:99:0|1:113404045_TCCTG_*:117,1475,11250,0,6445,5418:113404045	18	1	0	0
chr13	113404117	113404152	TCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGC	-	exonic	LOC101928841	.	nonframeshift deletion	LOC101928841:NM_001304433:exon2:c.4038_4073del:p.R1373_A1384del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0005	0.0002	0.0002	0.0012	0.0002	0.0002	0.0006	0.0004	0.0010	0.0007	0.0008	0.0002	0.0005	0.0012	0.0002	0.0005	0.0001	0.0009	0.0030	0.0009	0.0008	0.0011	0.0007	0.0006	0.0008	0.0007	0.0011	0	0.0008	0.0010	0	0.0006	0	0.0010	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	155.38	37	chr13	113404116	.	TTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGC	T,*	155.38	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=1.58;DP=2182;ExcessHet=0.1128;FS=1.118;InbreedingCoeff=0.1624;MLEAC=1,1;MLEAF=0.025,0.025;MQ=57.79;MQRankSum=-7.640e-01;QD=0.29;ReadPosRankSum=0.729;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:161,0,315:477:99:0|1:113404045_TCCTG_*:117,1475,11250,0,6445,5418:113404045	18	0	1	1
chr13	113404116	113404152	TTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGC	0	exonic	LOC101928841	.	.	.	.	.	11	175	1	0	39	40	0.002849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	155.38	37	chr13	113404116	.	TTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGC	T,*	155.38	.	AC=1,1;AF=0.025,0.025;AN=40;BaseQRankSum=1.58;DP=2182;ExcessHet=0.1128;FS=1.118;InbreedingCoeff=0.1624;MLEAC=1,1;MLEAF=0.025,0.025;MQ=57.79;MQRankSum=-7.640e-01;QD=0.29;ReadPosRankSum=0.729;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:161,0,315:477:99:0|1:113404045_TCCTG_*:117,1475,11250,0,6445,5418:113404045	18	0	1	1
chr13	113404152	113404152	C	0	exonic	LOC101928841	.	.	.	.	.	74	109	6	10	27	53	0.106557	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5278	13067.7	97	chr13	113404152	.	C	T,*	13067.7	.	AC=18,3;AF=0.500,0.083;AN=36;BaseQRankSum=1.82;DP=1904;ExcessHet=0.0725;FS=0.000;InbreedingCoeff=0.1863;MLEAC=20,3;MLEAF=0.556,0.083;MQ=55.13;MQRankSum=-6.490e-01;QD=9.73;ReadPosRankSum=-4.236e+00;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,64,361:425:99:.:.:2449,564,374,2027,0,2433	4	5	6	3
chr13	113795181	113795181	G	C	exonic	TMEM255B	.	nonsynonymous SNV	TMEM255B:NM_001348663:exon4:c.G286C:p.V96L	.	.	436	1000	81	4	1	90	0.0426041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.975	D	0.584	P	.	.	1.000	D	2.35	M	0.43	T	-0.537	T	0.182	T	0.745	3.323	17.18	4.06	1.806	5.129	15.030	0.324	.	0.0037	0.00898562	0.0094	0.0010	0.0027	0.0001	0.0009	0.0067	0.0167	0.0377	0.0083569	1292	154602	rs150323609	0.0062	0.0062	0.0050	0.0073	0.0363	0.0060	0.0060	0.0352	0.0348	0.0009	0.0025	0.0069	0.0001	0.0007	0.0278	0.0044	0.0073	0.0363	0.0049	0.0049	0.0043	0.0056	0.0354	0.0046	0.0045	0.0311	0.0294	0.0009	0.0208	0.0030	0.0066	0.0002	0.0018	0.0170	0.0061	0.0066	0.0354	0.006	0.61437	D	0.017	0.65728	D	0.975	0.58077	D	0.584	0.50293	P	.	.	.	.	0.999994	0.58761	D	2.87	0.83286	M	0.43	0.56772	T	-2.34	0.51811	N	0.502	0.53532	-0.5375	0.67258	T	0.182	0.52934	T	9	0.0077860355	0.00177	T	.	.	.	0.324	0.64624	0.553	0.66995	0.385578977469	0.38175	0.7663973015602885	0.76588	0.250000845388	0.27578	0.656492352486	0.60908	T	0.237301	0.60496	T	-0.212264	0.19062	T	-0.0512197	0.66939	D	0.0395209149209923	0.03604	T	0.838216	0.51127	T	0.31684133	0.54372	0.35385677	0.60940	0.31684133	0.54372	0.35385677	0.60939	-9.994	0.73876	D	.	.	0.384	0.61725	A	.;.	.;.	2.309652	0.29567	18.16	0.99604973238387107	0.74456	0.92132	0.55016	D	AEFGBI	0.571454	0.57543	D	0.357397953511674	0.59132	4.090088	0.278757387613594	0.54302	3.595487	0.999999996836986	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.06	4.06	0.46572	5.500000	0.66660	5.156000	0.47774	0.647000	0.52776	1.000000	0.71638	1.000000	0.68203	0.026000	0.12556	0.0:0.0:1.0:0.0	15.030	0.71357	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1648.98	34	chr13	113795181	.	G	C	1648.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.340e-01;DP=927;ExcessHet=0.0000;FS=1.226;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.31;ReadPosRankSum=-4.030e-01;SOR=0.802	GT:AD:DP:GQ:PL	0/1:83,77:160:99:1663,0,1816	20	0	1	0
chr14	19713189	19713189	A	G	exonic	OR11H2	.	nonsynonymous SNV	OR11H2:NM_001197287:exon2:c.T728C:p.M243T,	.	.	489	1017	14	0	2	16	0.00683594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	0.0033	0.0103	0	0.0015	0.0006	0.0028	0.0011	3.84e-05	1	26028	rs1590546	0.0004	0.0011	0.0004	0.0005	0.0029	0.0004	0.0004	0.0019	0.0017	0.0023	0.0021	3.833e-05	0.0006	7.526e-05	0.0029	0.0002	0.0007	0.0014	0.0010	0.0017	0.0009	0.0011	0.0026	0.0009	0.0008	0.0022	0.0020	0.0026	0	0.0008	0	0.0006	0.0004	0	0.0003	0	0.0018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.595	0.40691	L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012151003	0.00262	T	.	.	.	.	.	.	.	0.166414681773	0.16258	0.09044129637984567	0.08977	.	.	0.24798822403	0.03559	T	0.011333	0.10128	T	0.0643397	0.60154	T	-0.145357	0.59653	T	.	.	.	0.40306	0.10319	T	0.25926927	0.48979	0.3451211	0.60199	0.25926927	0.48979	0.3451211	0.60199	-6.908	0.53358	T	.	.	0.275	0.50880	B	.;.	.;.	1.734153	0.22072	15.47	0.4422263449447929	0.03384	0.03438	0.08576	N	AEFI	.	.	.	.	.	.	.	.	.	4.60436804700089E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0443002	0.02987	1.26	1.26	0.20534	0.639000	0.24378	6.816000	0.56659	0.519000	0.23678	0.000000	0.06391	0.835000	0.27248	0.001000	0.02609	1.0:0.0:0.0:0.0	6.762	0.22733	994	0.00715	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2381.82	33	chr14	19713189	.	A	G	2381.82	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-2.683e+00;DP=1582;ExcessHet=0.1128;FS=1.318;InbreedingCoeff=-0.0526;MLEAC=2;MLEAF=0.050;MQ=36.54;MQRankSum=1.46;QD=6.12;ReadPosRankSum=-1.570e-01;SOR=0.616	GT:AD:DP:GQ:PL	0/1:180,40:220:99:486,0,5036	18	0	2	1
chr14	20372843	20372843	A	C	exonic	TEP1	.	nonsynonymous SNV	TEP1:NM_001319035:exon47:c.T6642G:p.I2214M	.	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.95	P	0.63	P	0.002	N	1.000	D	2.7	M	1.91	T	-1.065	T	0.044	T	0.163	1.419	10.68	4.08	0.823	2.986	9.137	0.171	.	0.0048	0.00459265	0.0014	0.0147	0.0004	0	0	0.0001	0	0	0.0013519	209	154602	rs34811735	0.0005	0.0005	0.0005	0.0005	0.0160	0.0005	0.0005	0.0149	0.0144	0.0160	0.0008	0	0	0	0.0033	4.676e-05	0.0013	4.638e-05	0.0045	0.0045	0.0045	0.0045	0.0149	0.0042	0.0041	0.0139	0.0135	0.0149	0	0.0032	0	0	0	0	0.0001	0.0038	0.0002	0.013	0.54683	D	0.01	0.65728	D	0.917	0.53885	P	0.426	0.51761	B	0.002365	0.36688	N	0.253292	0.999991	0.58761	D	2.25	0.63811	M	1.91	0.23283	T	-1.23	0.31170	N	0.484	0.51851	-1.0650	0.10549	T	0.044	0.18865	T	10	0.00884971	0.00200	T	.	.	.	0.171	0.43483	.	.	0.413891365518	0.41003	0.17959836116978106	0.17878	0.353559346183	0.37155	0.35633072257	0.18850	T	0.164302	0.50971	T	-0.533996	0.00364	T	-0.527501	0.19537	T	0.0291605978352433	0.01862	T	0.759724	0.38410	T	0.08757332	0.20399	0.09744952	0.23196	0.08757332	0.20398	0.09744952	0.23195	-6.969	0.53807	T	.	.	0.180	0.42592	B	.;.	.;.	2.909191	0.38583	20.8	0.98310036128819522	0.40135	0.68037	0.33652	D	AEFBI	0.162540	0.28873	N	-0.0825601580338298	0.38156	2.230562	-0.157122830920498	0.33136	1.892295	0.573021731403523	0.21508	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.91	4.08	0.46880	3.050000	0.49568	3.989000	0.40972	-0.562000	0.04833	0.996000	0.39380	1.000000	0.68203	0.100000	0.18284	0.1529:0.0:0.8471:0.0	9.137	0.36045	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	5006.11	34	chr14	20372843	.	A	C	5006.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.81;DP=1062;ExcessHet=0.1072;FS=1.202;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=1.36;SOR=0.620	GT:AD:DP:GQ:PL	0/1:96,100:196:99:2420,0,2304	19	0	2	0
chr14	31374957	31374957	C	T	exonic	HEATR5A	.	nonsynonymous SNV	HEATR5A:NM_015473:exon12:c.G1720A:p.V574I,	.	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.214	B	0.299	B	0.001	D	1.000	D	1.845	L	3.06	T	-1.115	T	0.038	T	0.123	3.007	16.03	4.65	2.695	4.712	15.604	0.061	.	0.0003	0.000199681	0.0024	0	0	0.0040	0.0104	0.0023	0.0119	0.0004	0.0012742	197	154602	rs200751288	0.0007	0.0007	0.0007	0.0006	0.0028	0.0006	0.0006	0.0024	0.0022	0	0	3.854e-05	0.0028	0.0095	0.0003	0.0002	0.0014	0.0002	0.0011	0.0011	0.0007	0.0015	0.0025	0.0010	0.0009	0.0015	0.0012	0	0	6.533e-05	0	0.0025	0.0102	0	0.0006	0.0009	0.0006	0.069	0.35537	T	0.105	0.38016	T	.	.	.	.	.	.	0.000809	0.41658	D	0.202905	0.99987	0.50225	D	.	.	.	3.06	0.08634	T	-0.86	0.23372	N	0.193	0.21188	-1.1146	0.02703	T	0.038	0.16203	T	10	0.0045880675	0.00095	T	.	.	.	0.061	0.17616	.	.	0.0482279557977	0.04254	0.2990949290561749	0.29822	.	.	0.418223798275	0.27594	T	0.048925	0.28159	T	-0.577759	0.00199	T	-0.60416	0.12463	T	0.0345963782863164	0.02739	T	0.888511	0.61827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11366	B	.	.	3.081787	0.41459	21.4	0.9935481818947649	0.60738	0.95774	0.66097	D	AEFBI	0.350338	0.44382	N	0.185817751735728	0.50519	3.241047	0.332131300867042	0.57437	3.909429	0.999986163406432	0.51787	0.615465	0.37627	0	0.601575	0.49859	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.72	4.65	0.57626	4.779000	0.62068	2.104000	0.30620	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9232:0.0:0.0768	15.604	0.76396	455	0.79073	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	953.98	33	chr14	31374957	.	C	T	953.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.455e+00;DP=756;ExcessHet=0.0000;FS=2.108;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.25;ReadPosRankSum=0.074;SOR=0.446	GT:AD:DP:GQ:PL	0/1:32,40:72:99:968,0,919	20	0	1	0
chr14	32600736	32600736	G	A	exonic	AKAP6	.	nonsynonymous SNV	AKAP6:NM_004274:exon7:c.G2674A:p.E892K,	.	.	424	1065	32	1	0	34	0.0157116	.	.	702857	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.986	D	0.000	D	0.578	D	0.345	N	3.4	T	-0.990	T	0.047	T	0.287	2.933	15.78	3.3	0.656	3.625	10.690	0.131	.	0.0091	0.00299521	0.0071	0.0012	0.0052	0.0001	0.0015	0.0111	0.0055	0.0018	0.0070698	1093	154602	rs34572259	0.0085	0.0085	0.0085	0.0084	0.0133	0.0084	0.0083	0.0109	0.0100	0.0017	0.0058	0.0191	5.04e-05	0.0016	0.0133	0.0096	0.0097	0.0023	0.0062	0.0062	0.0068	0.0056	0.0099	0.0059	0.0057	0.0093	0.0090	0.0013	0.0011	0.0070	0.0187	0.0002	0.0012	0.0238	0.0099	0.0052	0.0019	0.005	0.63226	D	0.027	0.58089	D	1.0	0.90584	D	0.986	0.76916	D	0.000038	0.55875	D	0.074651	0.577939	0.32350	D	0.695	0.17993	N	3.4	0.19450	T	-0.91	0.29323	N	0.725	0.76203	-0.9896	0.32702	T	0.047	0.20077	T	10	0.009763002	0.00219	T	.	.	.	0.131	0.35738	.	.	0.459974577466	0.45620	0.4104450211692473	0.40960	0.0771311899759	0.08663	0.735888004303	0.72368	T	0.17017	0.51782	T	-0.506004	0.00529	T	-0.490221	0.23368	T	0.0347308637286346	0.02762	T	0.835416	0.51562	T	0.22084916	0.44649	0.22094502	0.46887	0.22084916	0.44649	0.22094502	0.46886	-9.329	0.72742	D	.	.	0.100	0.17232	B	.;.;.	.;.;.	4.541604	0.71388	25.7	0.99883674826507607	0.95892	0.83575	0.42683	D	AEFDBI	0.220216	0.34500	N	0.272256118490707	0.54747	3.639588	0.265175929667817	0.53517	3.520271	0.999994986649258	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.48864	0.07692	0	0.530356	0.10902	0	.	.	5.18	3.3	0.36912	3.694000	0.54474	7.501000	0.59489	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0722:0.1326:0.7952:0.0	10.690	0.45058	607	0.67291	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1191.98	33	chr14	32600736	.	G	A	1191.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=805;ExcessHet=0.0000;FS=2.272;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.31;ReadPosRankSum=2.39;SOR=0.908	GT:AD:DP:GQ:PL	0/1:76,52:128:99:1206,0,1779	20	0	1	0
chr14	32773885	32773885	A	G	exonic	AKAP6	.	nonsynonymous SNV	AKAP6:NM_004274:exon12:c.A3580G:p.K1194E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.546	P	0.073	B	0.038	N	1.000	N	0.69	N	3.48	T	-1.081	T	0.013	T	0.357	2.879	15.59	5.1	2.052	4.640	9.678	0.066	0.00552198244849	.	0.00199681	0.0006	0	0	0.0081	0	3.085e-05	0	0	0.0005433	84	154602	rs148588675	0.0002	0.0002	0.0002	0.0002	0.0074	0.0002	0.0002	0.0067	0.0065	0	0	0	0.0074	0	0	4.497e-06	0.0001	2.319e-05	0.0003	0.0003	0.0002	0.0004	0.0096	0.0003	0.0002	0.0075	0.0068	0	0	0	0	0.0096	0	0	0	0.0005	0	0.096	0.31088	T	0.66	0.10893	T	0.546	0.38028	P	0.073	0.28123	B	0.038080	0.24327	N	0.460397	0.700642	0.30106	N	2.095	0.58118	M	3.48	0.17761	T	-1.07	0.27876	N	0.525	0.55453	-1.0805	0.07252	T	0.013	0.04890	T	10	0.008966535	0.00203	T	0.005522	0.14227	T	0.066	0.19193	.	.	0.376790727695	0.37294	0.22287909750589213	0.22202	0.110045376786	0.12417	0.403886348009	0.25609	T	0.056632	0.30342	T	-0.482522	0.00715	T	-0.455498	0.27092	T	0.0408262199487819	0.03840	T	0.656934	0.26653	T	0.14468001	0.33198	0.14616124	0.34638	0.14468001	0.33198	0.14616124	0.34637	-3.135	0.11703	T	.	.	0.082	0.12084	B	.;.	.;.	2.497225	0.32232	18.98	0.99799693933076783	0.88461	0.87434	0.46973	D	AEFGBI	0.315435	0.42000	N	0.0715167157436047	0.45138	2.775376	0.204562413869289	0.50100	3.205651	0.12833378655187	0.17038	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.1	5.1	0.68917	4.325000	0.59022	4.055000	0.41540	0.691000	0.84096	1.000000	0.71638	0.934000	0.28616	0.754000	0.35928	0.9217:0.0:0.0783:0.0	9.678	0.39214	813	0.42397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1989.98	40	chr14	32773885	.	A	G	1989.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.789e+00;DP=970;ExcessHet=0.0000;FS=1.928;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.92;ReadPosRankSum=-1.323e+00;SOR=0.851	GT:AD:DP:GQ:PL	0/1:87,80:167:99:2004,0,2305	20	0	1	0
chr14	38255754	38255754	A	T	exonic	CLEC14A	.	nonsynonymous SNV	CLEC14A:NM_175060:exon1:c.T269A:p.L90Q,	.	.	406	1114	2	0	0	2	0.000896861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.999	D	0.938	D	0.168	N	0.838	D	0.895	L	0.56	T	-0.784	T	0.187	T	0.716	3.044	16.16	3.91	2.007	0.991	9.431	0.272	0.294191016738	.	.	5.172e-05	0.0005	0	0	0	0	0	0	3.84e-05	1	26028	.	2.148e-06	2.052e-06	1.415e-06	2.897e-06	2.493e-05	5.7e-07	1.6e-07	4.14e-06	1.55e-06	0	0	0	0	0	0	0	1.719e-05	2.493e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.34800	T	0.0	0.92824	D	0.999	0.77913	D	0.938	0.67350	D	0.167529	0.17474	N	0.462954	0.837672	0.35016	D	2.045	0.56016	M	0.56	0.54540	T	-0.55	0.16799	N	0.608	0.62526	-0.7841	0.56070	T	0.187	0.53767	T	10	0.67759585	0.71084	D	0.294191	0.90666	D	0.272	0.58758	0.749	0.87988	0.688694716643	0.68602	0.45410845455309373	0.45328	1.62602313597	0.89152	0.750069737434	0.74456	T	0.021807	0.16921	T	0.0549741	0.58980	T	-0.15881	0.58459	T	0.810814380645752	0.47105	D	0.551745	0.19033	T	0.29421136	0.52381	0.36178195	0.61596	0.29421136	0.52381	0.36178195	0.61595	-2.974	0.09903	T	.	.	0.197	0.41918	B	.	.	3.730150	0.53359	23.4	0.99046212070934536	0.51140	0.08033	0.14010	N	AEFDBHCI	0.278721	0.39294	N	0.0590230146689155	0.44559	2.727707	-0.0156878489965112	0.39005	2.306298	0.999999988147735	0.74766	0.443343	0.08805	1	0.573888	0.26702	0	0.666236	0.60216	0	0.56214	0.19341	0	.	.	3.91	3.91	0.44383	0.874000	0.27715	8.196000	0.76798	0.691000	0.84096	0.011000	0.18532	1.000000	0.68203	0.963000	0.52385	1.0:0.0:0.0:0.0	9.431	0.37776	805	0.43675	C-type lectin-like|C-type lectin-like	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1130.98	34	chr14	38255754	.	A	T	1130.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.824;DP=778;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.96;ReadPosRankSum=0.979;SOR=0.658	GT:AD:DP:GQ:PL	0/1:42,39:81:99:1145,0,1166	20	0	1	0
chr14	44962572	44962572	C	T	exonic	TOGARAM1	.	nonsynonymous SNV	TOGARAM1:NM_001308120:exon1:c.C151T:p.R51C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.007	N	1.000	D	0.695	N	0.38	T	-0.679	T	0.212	T	0.787	3.380	17.40	4.88	2.526	3.252	13.404	0.249	0.0221902037615	.	.	4.985e-05	0	0	0	0	1.51e-05	0	0.0003	3.88e-05	6	154602	rs764620129	2.805e-05	2.805e-05	9.53e-06	4.676e-05	0.0002	2.087e-05	1.878e-05	0.0002	0.0001	0	0	0	0	0	0.0002	1.529e-05	3.312e-05	0.0002	2.628e-05	2.627e-05	2.569e-05	2.69e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0	0	9.422e-05	0	2.939e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	0.006701	0.31850	N	0.146541	0.998806	0.45475	D	.	.	.	0.38	0.57575	T	-1.74	0.41239	N	0.547	0.67477	-0.6787	0.61432	T	0.212	0.57267	T	10	0.37061948	0.53446	T	0.02219	0.45053	T	0.249	0.55752	0.449	0.50957	0.582828786496	0.57955	0.5031628761113948	0.50238	0.725041109475	0.62425	0.618584513664	0.55529	T	0.012453	0.11750	T	0.0233948	0.54838	T	0.0920208	0.76379	D	0.39528900384903	0.28765	T	0.886311	0.61284	D	0.2883503	0.51839	0.31176355	0.57181	0.2883503	0.51839	0.31176355	0.57180	-4.3	0.28177	T	.	.	0.161	0.35519	B	.;.	.;.	4.999898	0.82956	27.9	0.99917617915804768	0.98518	0.49811	0.28519	N	AEFDGBHCI	0.502214	0.53473	D	0.518198644659557	0.68168	5.179997	0.527698874366196	0.69863	5.421099	0.999999999997987	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	4.88	4.88	0.63131	3.287000	0.51438	5.916000	0.51093	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:1.0:0.0:0.0	13.404	0.60347	801	0.44448	.;.	.	.	.	.	.	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	0.02381	1186.98	41	chr14	44962572	.	C	T	1186.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.64;DP=812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.60;ReadPosRankSum=1.65;SOR=0.650	GT:AD:DP:GQ:PL	0/1:67,45:112:99:1201,0,1706	20	0	1	0
chr14	49768601	49768601	T	G	exonic	KLHDC2	.	nonsynonymous SNV	KLHDC2:NM_014315:exon1:c.T133G:p.F45V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.438	B	0.287	B	0.006	N	0.992	D	1.155	L	-0.28	T	-0.796	T	0.202	T	0.486	3.737	18.98	3.23	1.710	5.035	10.666	0.291	0.582130542064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.018	0.66756	D	0.192	0.35858	B	0.063	0.40572	B	0.006060	0.32309	N	0.329445	0.992379	0.41628	D	1.335	0.33326	L	-0.28	0.67543	T	-2.61	0.58248	D	0.489	0.53708	-0.7961	0.55374	T	0.202	0.55863	T	10	0.37115398	0.53485	T	0.582131	0.96259	D	0.291	0.61040	0.562	0.68229	0.708705863831	0.70616	0.7823465693998305	0.78185	0.567351061519	0.53003	0.918841600418	0.98234	D	0.310482	0.68244	T	0.0240885	0.54930	T	-0.203175	0.54345	T	0.946172118186951	0.62415	D	0.911709	0.70480	D	0.83709514	0.86401	0.58722585	0.76058	0.83709514	0.86402	0.58722585	0.76059	-10.935	0.79300	D	.	.	0.418	0.70678	A	.;.;.	.;.;.	4.104697	0.61238	24.3	0.97646768009865392	0.35114	0.86578	0.45888	D	ALL	0.775016	0.70856	D	-0.0580268916284365	0.39243	2.311177	0.0661768390241153	0.42860	2.599972	0.999999999999813	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.63	3.23	0.36150	4.880000	0.62799	4.588000	0.43946	0.558000	0.28311	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0915:0.0:0.9085	10.666	0.44929	859	0.33891	.;.;.	.	.	.	.	.	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	0.02381	691.98	40	chr14	49768601	.	T	G	691.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.260e-01;DP=810;ExcessHet=0.0000;FS=3.026;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.23;ReadPosRankSum=-7.000e-03;SOR=1.141	GT:AD:DP:GQ:PL	0/1:80,31:111:99:706,0,2259	20	0	1	0
chr14	50665189	50665189	C	A	exonic	SAV1	.	nonsynonymous SNV	SAV1:NM_021818:exon2:c.G525T:p.R175S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.791	P	0.19	B	0.000	D	1.000	D	1.04	L	0.84	T	-1.085	T	0.082	T	0.911	3.230	16.82	4.41	1.224	0.711	13.145	0.196	0.0214400189605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.91255	D	0.12	0.92824	T	0.791	0.44643	P	0.19	0.36341	B	0.000000	0.84330	D	0.000000	0.999992	0.58761	D	1.955	0.52871	M	0.84	0.48460	T	-0.41	0.54382	N	0.884	0.88246	-1.0853	0.06353	T	0.082	0.32324	T	10	0.2658546	0.44085	T	0.02144	0.44208	T	0.196	0.47777	0.446	0.50466	0.559365716769	0.55597	0.6479211810986603	0.64727	0.992791541148	0.74142	0.510502696037	0.40293	T	0.046076	0.75668	T	0.225492	0.76295	D	0.0861267	0.75987	D	0.815493166446686	0.47441	D	0.815518	0.47040	T	0.35506094	0.57458	0.22660713	0.47643	0.35506094	0.57458	0.22660713	0.47642	-2.774	0.07946	T	.	.	0.415	0.67831	A	.;.;.	.;.;.	2.861448	0.37813	20.6	0.99622893711877625	0.75533	0.94880	0.62650	D	AEFDGBI	0.416942	0.48519	N	-0.0279176716409118	0.40594	2.413402	0.0662916439542567	0.42866	2.600413	0.999996947619327	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.29	4.41	0.52588	0.754000	0.26056	1.104000	0.24096	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9226:0.0:0.0774	13.145	0.58873	424	0.81215	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	506.98	34	chr14	50665189	.	C	A	506.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.748e+00;DP=717;ExcessHet=0.0000;FS=2.963;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=41.50;MQRankSum=-2.269e+00;QD=12.37;ReadPosRankSum=1.71;SOR=0.293	GT:AD:DP:GQ:PL	0/1:20,21:41:99:521,0,559	20	0	1	0
chr14	52860346	52860346	A	C	exonic	FERMT2	.	nonsynonymous SNV	FERMT2:NM_006832:exon13:c.T1722G:p.I574M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.25	B	0.361	B	0.000	N	1.000	D	1.71	L	-1.08	T	-0.531	T	0.387	T	0.311	2.186	13.26	3.63	0.482	-0.144	6.979	0.257	0.0372308340027	0.0005	.	0.0006	0	0	0	0	0.0011	0	0	0.0005369	83	154602	rs138631913	0.0005	0.0005	0.0004	0.0005	0.0006	0.0004	0.0004	0.0005	0.0005	5.977e-05	0	0	0	0.0003	0.0005	0.0006	0.0004	3.48e-05	0.0004	0.0004	0.0005	0.0004	0.0009	0.0004	0.0003	0.0007	0.0006	0.0001	0	0	0	0	0.0002	0	0.0009	0.0010	0	0.147	0.25664	T	0.147	0.39645	T	0.25	0.31189	B	0.361	0.43233	B	0.000007	0.62929	N	0.111145	0.99996	0.52935	D	1.995	0.54099	M	-1.08	0.77078	T	-1.48	0.38151	N	0.282	0.32481	-0.5311	0.67500	T	0.387	0.74194	T	10	0.06109178	0.07607	T	0.037231	0.57485	D	0.257	0.56827	.	.	0.620908578521	0.61783	0.4577229104266093	0.45690	0.408847854012	0.41716	0.56936109066	0.48586	T	0.417272	0.76997	T	-0.332066	0.05956	T	-0.290299	0.45743	T	0.0706432352304257	0.08741	T	0.79582	0.43907	T	0.14194173	0.32684	0.11197109	0.27013	0.14194173	0.32684	0.11197109	0.27013	-6.703	0.52930	T	.	.	0.069	0.06069	B	.;.;.;.;.;.	.;.;.;.;.;.	2.050203	0.26063	16.99	0.98182868294055392	0.38958	0.46290	0.27727	N	AEFBI	0.341683	0.43808	N	-0.260438569820373	0.30689	1.713526	-0.185259571106616	0.32076	1.821427	0.997092481518992	0.35269	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.645665	0.59343	0	.	.	6.07	3.63	0.40741	-0.273000	0.08580	0.102000	0.14662	0.727000	0.85467	0.114000	0.23067	0.117000	0.22861	0.999000	0.91618	0.7325:0.1267:0.1408:0.0	6.979	0.23870	781	0.47532	.;.;.;.;.;.	.	.	.	.	.	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	0.02381	931.98	36	chr14	52860346	.	A	C	931.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.79;DP=767;ExcessHet=0.0000;FS=6.244;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=-2.058e+00;SOR=1.508	GT:AD:DP:GQ:PL	0/1:47,33:80:99:946,0,1133	20	0	1	0
chr14	58213644	58213644	T	C	exonic	ACTR10	.	nonsynonymous SNV	ACTR10:NM_018477:exon6:c.T464C:p.I155T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.0	B	0.001	B	0.000	D	1.000	D	0.805	L	-3.44	D	0.114	D	0.666	D	0.186	0.389	6.113	5.8	2.219	4.529	9.930	0.324	0.0362747916202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0026	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0002	0	8.123e-05	7.948e-05	1.955e-05	0	0.0003	0.0002	7.24e-05	6.639e-06	2.641e-05	0	1.359e-05	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-05	0	0	0.35	0.12305	T	0.45	0.12957	T	0.0	0.02946	B	0.001	0.04355	B	0.000051	0.53742	D	0.197305	0.974077	0.39075	D	0.06	0.08197	N	-3.44	0.94428	D	-1.31	0.32791	N	0.456	0.49328	0.114	0.84424	D	0.666	0.88403	D	10	0.36079857	0.52715	T	0.036275	0.56887	D	0.324	0.64624	0.434	0.48500	0.993195394259	0.99311	0.5930593215126997	0.59235	0.374889918543	0.38946	0.782578408718	0.79317	T	0.399172	0.75708	T	0.0213512	0.54564	T	-0.207107	0.53971	T	0.59854531288147	0.36343	D	0.833317	0.50212	T	0.060931925	0.12560	0.09373129	0.22154	0.060931925	0.12560	0.09373129	0.22154	-5.421	0.41121	T	.	.	0.486	0.63951	A	.	.	3.186553	0.43278	21.7	0.8580340382623457	0.16122	0.91508	0.53678	D	AEFBI	0.213280	0.33888	N	-0.111420387238393	0.36894	2.138883	0.0755270437198708	0.43321	2.636326	0.9557581108309	0.28208	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.8	5.8	0.92081	4.582000	0.60668	7.707000	0.66598	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.500000	0.29017	0.0:0.0786:0.0:0.9214	9.930	0.40688	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	2608.12	67	chr14	58213644	.	T	C	2608.12	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.303e+00;DP=1500;ExcessHet=54.0936;FS=246.126;InbreedingCoeff=-0.9696;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=1.77;ReadPosRankSum=0.737;SOR=12.205	GT:AD:DP:GQ:PL	0/1:47,22:69:99:156,0,985	0	0	21	0
chr14	59563774	59563774	A	G	exonic	CCDC175	.	nonsynonymous SNV	CCDC175:NM_001164399:exon6:c.T806C:p.M269T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.830	N	1.000	N	0.695	N	.	.	-0.994	T	0.082	T	0.32	2.114	13.02	3.66	0.939	0.995	7.862	0.048	0.0210071168386	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1161907568	7.771e-07	3.421e-06	0	1.575e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.862e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.55530	D	0.062	0.45318	T	.	.	.	.	.	.	0.829578	0.06933	N	1.084810	1	0.08975	N	1.59	0.40313	L	1.95	0.22474	T	-1.5	0.37178	N	0.23	0.26717	-0.9942	0.31512	T	0.082	0.32266	T	6	0.08922386	0.15435	T	0.021007	0.43710	T	.	.	.	.	0.0401082797425	0.02173	0.07904080778905133	0.07839	.	.	0.49979954958	0.38800	T	0.005005	0.15323	T	-0.184886	0.23011	T	-0.503353	0.22000	T	0.105510729938476	0.12952	T	0.344066	0.07525	T	0.202784	0.42334	0.16416252	0.38044	0.202784	0.42334	0.16416252	0.38043	-3.066	0.10909	T	.	.	0.429	0.61140	A	.;.	.;.	0.574707	0.09432	6.211	0.81271641111397308	0.13603	0.10123	0.15715	N	AEFBI	0.078179	0.15769	N	-0.463290935519129	0.23292	1.249729	-0.517549088878051	0.21677	1.173761	0.608131181398646	0.21782	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.82	3.66	0.41111	0.976000	0.29059	1.901000	0.29582	0.691000	0.84096	0.001000	0.13787	0.000000	0.08366	0.662000	0.33024	0.8161:0.0:0.0:0.1839	7.862	0.28680	759	0.50631	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	304.98	34	chr14	59563774	.	A	G	304.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.110e-01;DP=724;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.10;ReadPosRankSum=-3.100e-02;SOR=0.850	GT:AD:DP:GQ:PL	0/1:33,17:50:99:319,0,811	20	0	1	0
chr14	63599753	63599753	G	A	exonic	WDR89	.	stopgain	WDR89:NM_001258272:exon3:c.C190T:p.R64X	.	.	430	1077	15	0	0	15	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	4.496	24.1	4.69	2.826	2.723	16.526	.	.	.	.	1.655e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs200681506	8.895e-06	3.831e-05	1.225e-05	5.502e-06	2.319e-05	4.96e-06	3.83e-06	3.85e-06	1.44e-06	0	0	0	0	0	0	5.396e-06	8.281e-05	2.319e-05	0.0002	0.0074	0.0002	0.0003	0.0004	0.0002	0.0001	0.0002	0.0001	0.0003	0	0.0004	0	0	0.0003	0	0.0001	0.0015	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.000463	0.44119	D	0.194702	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.144	0.27435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.481121	0.93742	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;Recessive;.	High;.;High;.	7.339368	0.96413	36	0.99756467363359924	0.84694	0.94639	0.61825	D	AEFGBI	0.098617	0.19868	N	0.909272293390907	0.92206	11.29225	0.757728745137247	0.86734	8.984897	0.999972014400061	0.50053	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.63	4.69	0.58546	2.909000	0.48456	5.651000	0.49183	-0.680000	0.04236	1.000000	0.71638	0.992000	0.31684	0.036000	0.13842	0.0:0.0:0.8692:0.1308	16.526	0.84179	854	0.34840	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	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	536.85	53	chr14	63599753	.	G	A	536.85	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.700e-02;DP=1783;ExcessHet=0.3300;FS=7.440;InbreedingCoeff=-0.0767;MLEAC=3;MLEAF=0.071;MQ=59.03;MQRankSum=-1.129e+01;QD=0.85;ReadPosRankSum=-1.960e+00;SOR=1.886	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:205,15:220:13:0|1:63599753_G_A:13,0,8520:63599753	18	0	3	0
chr14	64158707	64158707	T	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.T15875C:p.M5292T	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.021	B	0.012	B	0.041	N	1.000	D	1.7	L	1.39	T	-1.084	T	0.073	T	0.364	1.006	9.108	3.35	0.508	0.640	7.200	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.35	4406.61	113	chr14	64158707	.	T	C	4406.61	.	AC=14;AF=0.350;AN=40;BaseQRankSum=-3.043e+00;DP=2681;ExcessHet=14.4320;FS=209.673;InbreedingCoeff=-0.5275;MLEAC=14;MLEAF=0.350;MQ=60.00;MQRankSum=0.00;QD=2.47;ReadPosRankSum=1.08;SOR=12.830	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:83,47:130:99:.:.:751,0,1618	6	0	14	1
chr14	64487350	64487350	C	T	exonic	ZBTB25	.	nonsynonymous SNV	ZBTB25:NM_001354683:exon3:c.G881A:p.C294Y	.	.	424	1097	1	0	0	1	0.000455581	.	.	2356791	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.042	B	0.037	B	0.008	N	1.000	D	0.55	N	1.61	T	-1.091	T	0.067	T	0.618	2.700	14.99	6.17	2.941	3.476	20.490	0.185	0.0056944585061	7.7e-05	.	0.0001	0	8.657e-05	0	0	0.0002	0	0.0001	9.7e-05	15	154602	rs374600794	6.567e-05	6.567e-05	6.262e-05	6.876e-05	0.0005	5.495e-05	5.107e-05	0.0001	7.541e-05	0	0.0002	0	0	0	0.0005	6.385e-05	8.279e-05	0.0001	0.0001	0.0001	0.0001	0.0001	0.0007	7.573e-05	6.279e-05	0.0004	0.0003	0	0	0.0007	0	0	0	0.0034	8.82e-05	0.0005	0	0.095	0.31235	T	0.167	0.30729	T	0.042	0.21471	B	0.037	0.23121	B	0.007562	0.31319	N	0.374639	0.994	0.81001	D	0.695	0.17993	N	1.61	0.28391	T	-1.25	0.31576	N	0.35	0.55886	-1.0908	0.05400	T	0.067	0.27468	T	10	0.078775644	0.12596	T	0.005694	0.14742	T	0.185	0.45933	.	.	0.357724736475	0.35387	0.40884105370116797	0.40800	0.269474927048	0.29467	0.486367613077	0.36935	T	0.149096	0.48795	T	-0.244178	0.14820	T	-0.333476	0.41082	T	0.0393709194902363	0.03577	T	0.733627	0.34942	T	0.11307704	0.26709	0.13780625	0.32929	0.11307704	0.26709	0.13780625	0.32928	-3.595	0.17785	T	.	.	0.073	0.04517	B	.;.	.;.	2.910845	0.38609	20.8	0.96735409789671212	0.30902	0.93131	0.57407	D	AEFGBI	.	.	.	-0.121541141850825	0.36456	2.107444	0.0560985653186133	0.42367	2.561358	0.999999999958445	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	3.587000	0.53705	5.999000	0.52457	0.599000	0.40250	0.346000	0.25726	1.000000	0.68203	0.941000	0.48210	0.0:1.0:0.0:0.0	20.490	0.99205	372	0.84213	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1902.98	34	chr14	64487350	.	C	T	1902.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.722e+00;DP=861;ExcessHet=0.0000;FS=1.277;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.44;ReadPosRankSum=0.681;SOR=0.575	GT:AD:DP:GQ:PL	0/1:77,76:153:99:1917,0,1997	20	0	1	0
chr14	64786960	64786960	C	T	exonic	SPTB	.	nonsynonymous SNV	SPTB:NM_001024858:exon15:c.G3005A:p.R1002H	Anemia, neonatal hemolytic, fatal and near-fatal (3);Elliptocytosis-3 (3);Spherocytosis, type 2, Autosomal dominant	.	0	1519	3	0	0	3	0.000986518	.	.	2359472	Hereditary_spherocytosis_type_2|Inborn_genetic_diseases	MONDO:MONDO:0000913,MedGen:C2674219,OMIM:616649,Orphanet:822|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.694	P	0.347	B	0.000	N	1.000	D	2.755	M	0.71	T	-0.660	T	0.191	T	0.505	3.694	18.77	4.0	1.203	6.081	12.443	0.255	0.063785773078	.	.	8.244e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs780815297	1.916e-05	1.984e-05	1.225e-05	2.613e-05	0.0003	1.328e-05	1.144e-05	6.092e-05	2.521e-05	0	0	3.826e-05	0	0	0.0003	1.259e-05	8.279e-05	6.956e-05	2.628e-05	3.283e-05	3.853e-05	1.345e-05	0.0001	8.14e-06	5.14e-06	2.26e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0.0010	0	0.008	0.59928	D	0.021	0.58089	D	0.466	0.36465	P	0.347	0.42698	B	0.000001	0.62929	N	0.055862	0.999958	0.52396	D	2.51	0.73131	M	0.71	0.51228	T	-3.84	0.74193	D	0.492	0.52563	-0.6599	0.62280	T	0.191	0.54301	T	10	0.52769387	0.63004	D	0.063786	0.69075	D	0.255	0.56562	0.441	0.49648	0.63568515825	0.63269	0.5151196180972656	0.51434	0.346443160718	0.36549	0.529669880867	0.42988	T	0.631572	0.88588	D	-0.14952	0.28387	T	-0.271024	0.47716	T	0.825243532657623	0.48165	D	0.939106	0.77081	D	0.3277793	0.55289	0.24986507	0.50567	0.3277793	0.55289	0.24986507	0.50566	-6.334	0.48991	T	0.7692014804704723	0.85034	0.191	0.41047	B	.;.;.;.;.	.;.;.;.;.	4.258599	0.64698	24.7	0.99883087972797924	0.95892	0.98802	0.87042	D	AEFDGBI	0.819815	0.74075	D	0.33431430606589	0.57917	3.961171	0.337305038824625	0.57746	3.94157	0.999999772358059	0.74766	0.615755	0.39536	0	0.59043	0.45803	0	0.602189	0.34648	0	0.526803	0.08958	0	.	.	4.89	4.0	0.45673	6.163000	0.71702	4.928000	0.46104	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.386000	0.26469	0.0:0.9161:0.0:0.0839	12.443	0.54975	464	0.78488	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2842.98	36	chr14	64786960	.	C	T	2842.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.49;DP=942;ExcessHet=0.0000;FS=7.797;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.80;ReadPosRankSum=0.878;SOR=0.671	GT:AD:DP:GQ:PL	0/1:98,108:206:99:2857,0,2322	20	0	1	0
chr14	66681128	66681128	A	G	exonic	GPHN	.	nonsynonymous SNV	GPHN:NM_001024218:exon2:c.A86G:p.N29S	Molybdenum cofactor deficiency C	.	21	1498	2	1	0	4	0.00133333	.	.	528323	Sulfite_oxidase_deficiency_due_to_molybdenum_cofactor_deficiency_type_C|Inborn_genetic_diseases	MONDO:MONDO:0014212,MedGen:C1854990,OMIM:615501,Orphanet:308400,Orphanet:833|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.27	T	0.943	P	0.902	P	0.000	D	1.000	D	0.07	N	-1.02	T	-0.367	T	0.367	T	0.139	2.827	15.42	5.11	1.922	8.195	12.835	0.353	0.0526138235332	7.7e-05	.	9.139e-05	0	0.0003	0	0	0.0001	0	6.078e-05	7.12e-05	11	154602	rs144247888	6.097e-05	6.362e-05	6.077e-05	6.116e-05	0.0006	5.024e-05	4.685e-05	0.0002	8.479e-05	3.045e-05	8.952e-05	0	2.533e-05	0	0.0006	6.109e-05	0.0002	3.496e-05	6.574e-05	6.568e-05	7.711e-05	5.383e-05	0.0001	3.518e-05	2.617e-05	6.807e-05	5.089e-05	2.414e-05	0	0	0	0	0	0	0.0001	0	0	0.184	0.43085	T	0.465	0.36365	T	0.248	0.53072	B	0.438	0.64047	B	0.000000	0.84330	D	0.000000	0.999273	0.81001	D	0.4	0.12274	N	-1.02	0.76300	T	-1.35	0.39119	N	0.793	0.80180	-0.3669	0.73056	T	0.367	0.72712	T	10	0.61218137	0.67506	D	0.052614	0.65141	D	0.353	0.67418	.	.	0.72538121087	0.72295	0.49290651260588103	0.49211	1.38065135197	0.84769	0.775062918663	0.78184	T	0.490282	0.81514	T	-0.206582	0.19863	T	-0.308815	0.43785	T	0.316590964794159	0.25683	T	0.932107	0.76420	D	0.32512578	0.55069	0.23285916	0.48458	0.32512578	0.55069	0.23285916	0.48457	-7.077	0.54595	T	0.15152657662892952	0.17883	0.166	0.54146	B	.;.;.;.	.;.;.;.	4.774765	0.77330	26.7	0.99138770012916644	0.53464	0.96558	0.69741	D	AEFBI	0.894378	0.83329	D	0.237224559343401	0.53010	3.472004	0.365614382876398	0.59453	4.123351	0.95762640559479	0.28315	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.11	5.11	0.69188	8.587000	0.90596	11.061000	0.85440	0.677000	0.82338	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	12.835	0.57152	510	0.75209	MoaB/Mog domain|MoaB/Mog domain|MoaB/Mog domain|MoaB/Mog domain;.;MoaB/Mog domain|MoaB/Mog domain;MoaB/Mog domain|MoaB/Mog domain|MoaB/Mog domain|MoaB/Mog domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	357.98	33	chr14	66681128	.	A	G	357.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.351;DP=700;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=0.00;SOR=0.569	GT:AD:DP:GQ:PL	0/1:13,18:31:99:372,0,246	20	0	1	0
chr14	69573090	69573092	GCG	-	exonic	CCDC177	.	nonframeshift deletion	CCDC177:NM_001271507:exon2:c.531_533del:p.A180del,	.	.	481	42	22	831	146	1830	0.952489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	15285.35	10	chr14	69573086	.	CGCGGCG	C,CGCG	15285.35	.	AC=40,2;AF=0.952,0.048;AN=42;DP=467;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,2;MLEAF=0.952,0.048;MQ=60.00;QD=30.04;SOR=1.246	GT:AD:DP:GQ:PL	1/1:0,16,0:16:48:707,48,0,707,48,707	0	19	0	0
chr14	74356998	74356998	G	A	exonic	VRTN	.	nonsynonymous SNV	VRTN:NM_018228:exon2:c.G215A:p.R72Q,	.	.	426	1077	19	0	0	19	0.00874367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.033	B	0.003	B	0.223	N	1.000	N	0.345	N	0.95	T	-1.049	T	0.042	T	0.193	1.363	10.48	1.82	0.647	0.423	9.583	0.018	0.00777356287819	0.0015	0.00139776	0.0022	0.0004	0.0029	0	0.0015	0.0022	0.0022	0.0043	0.0021216	328	154602	rs45593432	0.0024	0.0024	0.0023	0.0024	0.0110	0.0023	0.0023	0.0088	0.0080	0.0004	0.0023	0.0017	0	0.0011	0.0110	0.0025	0.0022	0.0037	0.0020	0.0020	0.0018	0.0022	0.0037	0.0018	0.0018	0.0024	0.0023	0.0006	0	0.0031	0.0026	0	0.0010	0.0034	0.0027	0.0038	0.0037	0.139	0.25768	T	0.171	0.30339	T	0.033	0.20350	B	0.003	0.08700	B	0.222855	0.16098	N	0.565703	1	0.08975	N	0.345	0.11182	N	0.93	0.44065	T	-1.66	0.39692	N	0.081	0.05670	-1.0490	0.14677	T	0.042	0.17910	T	10	0.006282538	0.00142	T	0.007774	0.20616	T	0.018	0.03083	.	.	0.043077524339	0.03247	0.4145049700076509	0.41366	0.508805914632	0.49028	0.281761646271	0.07739	T	0.030668	0.21687	T	-0.558419	0.00259	T	-0.57464	0.15027	T	0.00794116350985431	0.00094	T	0.778122	0.45098	T	0.07385919	0.16535	0.04743518	0.06833	0.07385919	0.16535	0.04743518	0.06833	-4.319	0.28442	T	.	.	0.068	0.02639	B	.;.	.;.	1.297111	0.16988	12.89	0.99395072349976021	0.62519	0.17632	0.19921	N	AEFDBCI	0.119875	0.23378	N	-0.649216657548677	0.17483	0.9000355	-0.551358041754906	0.20770	1.120566	0.974554831129864	0.29553	0.645754	0.44609	0	0.59043	0.45803	0	0.696144	0.63334	0	0.542086	0.14980	0	.	.	4.91	1.82	0.24209	0.452000	0.21508	0.449000	0.18503	0.676000	0.76740	0.115000	0.23085	0.005000	0.19230	0.511000	0.29267	0.2597:0.0:0.7403:0.0	9.583	0.38662	269	0.89438	.;.	.	.	.	.	.	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	0.04762	2564.11	90	chr14	74356998	.	G	A	2564.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.78;DP=1015;ExcessHet=0.1072;FS=2.435;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.71;ReadPosRankSum=2.08;SOR=0.534	GT:AD:DP:GQ:PL	0/1:75,54:129:99:1426,0,1854	19	0	2	0
chr14	77027445	77027445	C	0	exonic	IRF2BPL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6562	12393.38	37	chr14	77027445	.	C	T,*	12393.38	.	AC=20,1;AF=0.625,0.031;AN=32;BaseQRankSum=0.947;DP=915;ExcessHet=1.6165;FS=2.187;InbreedingCoeff=-0.1019;MLEAC=23,1;MLEAF=0.719,0.031;MQ=59.99;MQRankSum=0.00;QD=28.23;ReadPosRankSum=-4.090e-01;SOR=0.961	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,30,0:30:90:1|1:77027445_C_T:1320,90,0,1320,90,1321:77027445	1	6	8	5
chr14	77027448	77027451	CTGT	0	exonic	IRF2BPL	.	.	.	.	.	513	390	392	223	4	842	0.517923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	12349.48	37	chr14	77027448	.	CTGT	C,*	12349.48	.	AC=20,1;AF=0.476,0.024;AN=42;BaseQRankSum=1.24;DP=882;ExcessHet=0.5132;FS=2.187;InbreedingCoeff=0.1429;MLEAC=20,1;MLEAF=0.476,0.024;MQ=59.99;MQRankSum=0.00;QD=28.00;ReadPosRankSum=-4.090e-01;SOR=0.961	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,30,0:30:90:1|1:77027445_C_T:1320,90,0,1320,90,1321:77027445	6	6	8	0
chr14	77378751	77378751	A	C	exonic	SAMD15	.	nonsynonymous SNV	SAMD15:NM_001010860:exon1:c.A1333C:p.K445Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.005	B	0.003	B	.	.	1.000	N	-0.405	N	2.31	T	-0.958	T	0.012	T	0.029	-0.261	2.746	-5.18	-0.728	-0.135	1.322	0.003	0.00129422080529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.74e-06	2.736e-06	1.363e-06	4.131e-06	3.599e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.599e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.397	0.10588	T	0.622	0.07394	T	0.005	0.12996	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	-1.195	0.00846	N	2.31	0.16794	T	0.18	0.05035	N	0.03	0.00717	-0.9578	0.39589	T	0.012	0.04700	T	9	0.039794892	0.02496	T	0.001294	0.01784	T	0.003	0.00094	0.225	0.14960	0.0401082797425	0.02173	0.037046065735261834	0.03651	0.0786034928776	0.08843	0.269540280104	0.06081	T	8.89E-4	0.00449	T	-0.427716	0.01530	T	-0.852161	0.00933	T	0.0553427934646606	0.06414	T	0.392161	0.09760	T	0.046514843	0.07797	0.02912814	0.01218	0.046514843	0.07797	0.02912814	0.01218	-3.803	0.20849	T	.	.	0.113	0.22318	B	.	.	-0.319214	0.02533	0.303	0.37705487616312933	0.02500	0.00105	0.00673	N	AEFBI	0.018382	0.00553	N	-1.76050032756043	0.00649	0.02800778	-1.77651243004606	0.00837	0.03740407	0.99998959501685	0.51787	0.553676	0.25195	0	0.588015	0.36545	0	0.59043	0.30614	0	0.567892	0.33627	0	.	.	4.49	-5.18	0.02624	0.085000	0.14759	-0.289000	0.10208	-1.174000	0.01395	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2629:0.1816:0.3652:0.1903	1.322	0.01990	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2020.98	104	chr14	77378751	.	A	C	2020.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.540e-01;DP=1896;ExcessHet=0.0000;FS=2.656;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.89;ReadPosRankSum=0.178;SOR=0.901	GT:AD:DP:GQ:PL	0/1:87,83:170:99:2035,0,2208	20	0	1	0
chr14	89991922	89991922	G	A	exonic	TDP1	.	nonsynonymous SNV	TDP1:NM_001008744:exon12:c.G1372A:p.G458S	Spinocerebellar ataxia, autosomal recessive with axonal neuropathy	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.953	P	0.843	P	0.000	D	1.000	D	1.415	L	0.77	T	-0.810	T	0.196	T	0.725	4.225	22.0	5.05	1.512	8.246	13.812	0.315	0.0346427729364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.871e-07	1.368e-06	0	1.382e-06	2.996e-05	0	0	.	.	2.996e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.39820	T	0.185	0.30339	T	0.92	0.54283	P	0.843	0.60313	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.095	0.58118	M	0.77	0.49642	T	-2.74	0.58248	D	0.94	0.95021	-0.8101	0.54544	T	0.196	0.55013	T	10	0.80729115	0.80054	D	0.034643	0.55817	D	0.315	0.63694	.	.	0.579495267905	0.57620	0.8718334780072311	0.87149	0.439420418319	0.43970	0.671778559685	0.63091	T	0.262394	0.63396	T	0.103675	0.64687	D	-0.0888541	0.64248	T	0.977716147899628	0.71976	D	0.968503	0.91916	D	0.5965228	0.72504	0.29834586	0.55868	0.5965228	0.72505	0.29834586	0.55868	-12.371	0.86611	D	0.3423462270655001	0.44003	0.396	0.59375	A	.;.;.;.	.;.;.;.	5.124072	0.85718	28.7	0.99802381438561971	0.88728	0.97905	0.78016	D	AEFBI	0.877559	0.80228	D	0.540102928425762	0.69482	5.363079	0.587682634097533	0.74054	6.072536	0.999996737355721	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.94	5.05	0.67566	8.477000	0.90268	11.746000	0.95299	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0743:0.0:0.9257:0.0	13.812	0.62760	969	0.06854	.;.;.;.	.	.	.	.	.	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	0.02381	512.98	33	chr14	89991922	.	G	A	512.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.82;DP=726;ExcessHet=0.0000;FS=1.279;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.50;ReadPosRankSum=-4.240e-01;SOR=0.976	GT:AD:DP:GQ:PL	0/1:20,18:38:99:527,0,432	20	0	1	0
chr14	91672938	91672938	T	A	exonic	CATSPERB	.	nonsynonymous SNV	CATSPERB:NM_024764:exon13:c.A1057T:p.I353F,	.	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.019	B	0.015	B	0.000	N	1.000	N	0	N	0.85	T	-1.069	T	0.056	T	0.115	0.232	5.255	-5.23	-0.933	-0.309	0.631	0.068	0.00596742551019	.	.	8.265e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs764188524	5.031e-05	4.994e-05	4.524e-05	5.543e-05	0.0018	4.089e-05	3.761e-05	0.0010	0.0007	6.115e-05	2.418e-05	0	0	0	0.0018	4.596e-05	0.0001	2.404e-05	5.919e-05	5.912e-05	7.713e-05	4.04e-05	0.0001	3.08e-05	2.212e-05	2.847e-05	1.858e-05	4.832e-05	0	0.0001	0	0	0	0	7.351e-05	0	0	0.682	0.04404	T	0.094	0.39645	T	0.019	0.17989	B	0.015	0.17295	B	0.000000	0.00162	N	15.000100	1	0.08975	N	1.1	0.28011	L	0.85	0.47130	T	-0.65	0.18877	N	0.092	0.07125	-1.0685	0.09746	T	0.056	0.23450	T	10	0.038360417	0.02250	T	0.005967	0.15579	T	0.068	0.19811	.	.	0.119812018005	0.11559	0.05423139408616145	0.05365	0.327067737592	0.34847	0.325008451939	0.14179	T	0.041018	0.25718	T	-0.401843	0.02252	T	-0.681834	0.06872	T	0.0496167838573456	0.05432	T	.	.	.	0.07903811	0.18033	0.057139	0.10335	0.07903811	0.18033	0.057139	0.10334	-4.205	0.26824	T	.	.	0.093	0.14155	B	.	.	-0.712902	0.01291	0.069	0.2522673902084035	0.01153	0.01650	0.05300	N	AEBI	0.052796	0.09458	N	-1.25480286907915	0.04237	0.1908112	-1.31283162004342	0.04263	0.2007219	3.36624261503037E-4	0.06583	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.43	-5.23	0.02584	-0.307000	0.08206	-2.802000	0.03346	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.4082:0.1592:0.1333:0.2993	0.631	0.00744	883	0.28872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	656.98	33	chr14	91672938	.	T	A	656.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.792;DP=795;ExcessHet=0.0000;FS=1.819;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.64;ReadPosRankSum=-1.282e+00;SOR=0.864	GT:AD:DP:GQ:PL	0/1:55,31:86:99:671,0,1311	20	0	1	0
chr14	92071010	92071010	-	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	exonic	ATXN3	.	frameshift insertion	ATXN3:NM_001164782:exon2:c.67_68insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G23Afs*74	Machado-Joseph disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0005	0.0004	0.0004	0.0066	0.0004	0.0003	0.0059	0.0057	0.0039	0.0002	0	0.0066	4.089e-05	0.0008	8.033e-05	0.0005	0.0003	0.0029	0.0030	0.0029	0.0030	0.0095	0.0027	0.0026	0.0087	0.0084	0.0095	0	0.0009	0	0.0069	0	0	0.0004	0.0010	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	36259.03	42	chr14	92071010	.	C	CCTGCTGCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	36259.03	.	AC=18,2,2,6,3,2;AF=0.429,0.048,0.048,0.143,0.071,0.048;AN=42;BaseQRankSum=0.860;DP=1771;ExcessHet=0.9430;FS=3.265;InbreedingCoeff=0.0101;MLEAC=18,2,2,6,3,2;MLEAF=0.429,0.048,0.048,0.143,0.071,0.048;MQ=59.43;MQRankSum=0.00;QD=25.62;ReadPosRankSum=1.57;SOR=1.013	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,43,0,0,0,0,0:45:99:.:.:1931,133,0,1779,178,1915,1779,178,1915,1915,1779,178,1915,1915,1915,1779,178,1915,1915,1915,1915,1779,178,1915,1915,1915,1915,1915	1	5	3	0
chr14	94497802	94497802	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G596A:p.G199D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.011	B	0.017	B	0.252	N	1.000	N	0.05	N	-2.05	D	-0.896	T	0.266	T	0.154	-1.272	0.044	2.69	0.689	0.019	3.621	0.133	0.0188046605053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455963195	6.871e-07	2.052e-06	0	1.382e-06	2.524e-05	0	0	.	.	0	0	0	2.524e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.08660	T	0.657	0.06576	T	0.011	0.15914	B	0.017	0.18140	B	0.251813	0.15493	N	0.613802	1	0.08975	N	0.66	0.16226	N	-2.05	0.85799	D	-1.46	0.35792	N	0.148	0.15046	-0.8956	0.48427	T	0.266	0.63727	T	10	0.040331542	0.02593	T	0.018805	0.40992	T	0.133	0.36157	0.432	0.48171	0.216624796971	0.21254	0.6112549893490689	0.61057	0.100516046514	0.11355	0.37503361702	0.21551	T	0.03395	0.23124	T	-0.223248	0.17552	T	-0.389328	0.34630	T	0.0576949219063508	0.06800	T	0.584142	0.21248	T	0.26295173	0.49358	0.10561278	0.25391	0.26295173	0.49358	0.10561278	0.25390	-1.722	0.02287	T	.	.	0.224	0.49509	B	.;.	.;.	2.009921	0.25536	16.80	0.080949235166052638	0.00057	0.07238	0.13262	N	AEFCI	0.065923	0.12884	N	-0.924847551878464	0.10263	0.4896058	-0.843139383567271	0.13453	0.6979405	0.0132140536699464	0.12433	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.69	0.30923	-0.172000	0.09858	0.548000	0.19395	0.599000	0.40250	0.000000	0.06391	0.008000	0.19753	0.813000	0.38311	0.1769:0.4335:0.0:0.3895	3.621	0.07640	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	13250.74	134	chr14	94497802	.	C	T	13250.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-9.980e-01;DP=3035;ExcessHet=54.0936;FS=263.453;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=4.70;ReadPosRankSum=-4.390e-01;SOR=12.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:63,56:119:99:.:.:725,0,909	0	0	21	0
chr14	96264526	96264526	C	T	exonic	BDKRB1	.	stopgain	BDKRB1:NM_000710:exon3:c.C844T:p.R282X,	.	.	428	1085	3	2	4	11	0.00321543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.428	N	1.000	N	.	.	.	.	.	.	.	.	.	5.897	36	-2.47	-0.499	0.235	9.988	.	.	0.0028	0.00139776	0.0028	0.0015	0.0007	0	0.0014	0.0038	0.0011	0.0033	0.0027749	429	154602	rs145322761	0.0028	0.0028	0.0027	0.0029	0.0038	0.0027	0.0027	0.0035	0.0034	0.0009	0.0011	0.0114	7.557e-05	0.0020	0.0024	0.0028	0.0029	0.0038	0.0020	0.0020	0.0020	0.0021	0.0037	0.0018	0.0018	0.0024	0.0021	0.0015	0	0.0007	0.0101	0.0002	0.0009	0	0.0025	0.0019	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	0.428342	0.12780	N	0.708972	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.086	0.06587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0792143	0.39841	T	0.114391	0.77862	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	6.282361	0.94940	34	0.9336485367524372	0.23106	0.11002	0.16340	N	AEFDBI	.	.	.	-0.490236798326602	0.22401	1.19582	-0.851290835087319	0.13257	0.6866986	0.999857602433696	0.44174	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.72	-2.47	0.06070	-0.565000	0.06020	-0.375000	0.09580	-0.873000	0.02525	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.5053:0.2102:0.2845:0.0	9.988	0.41021	976	0.04745	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	0.02381	1116.98	38	chr14	96264526	.	C	T	1116.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.77;DP=1018;ExcessHet=0.0000;FS=1.653;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=-2.240e-01;SOR=0.522	GT:AD:DP:GQ:PL	0/1:51,44:95:99:1131,0,1211	20	0	1	0
chr14	99659598	99659598	C	A	exonic	HHIPL1	.	nonsynonymous SNV	HHIPL1:NM_001127258:exon4:c.C1217A:p.P406H	.	.	435	1086	1	0	0	1	0.000460193	.	.	2732260	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	3.645	H	4.64	T	-0.331	T	0.230	T	0.461	2.992	15.98	4.88	2.276	4.691	18.067	0.208	0.365589107315	.	0.000199681	0.0002	0.0018	0	0	0	0.0002	0	0	5.82e-05	9	154602	rs572979321	6.792e-05	7.593e-05	5.793e-05	7.815e-05	0.0007	5.673e-05	5.269e-05	0.0004	0.0004	0.0006	0.0002	0	0	0	0.0007	5.261e-05	0.0001	2.528e-05	0.0001	0.0001	0.0001	0.0002	0.0004	9.738e-05	8.253e-05	0.0002	0.0002	0.0004	0	0.0002	0	0	0	0.0034	2.941e-05	0	0	0.009	0.57480	D	0.005	0.72224	D	1.0	0.90584	D	0.996	0.84481	D	0.000012	0.62929	D	0.067877	0.999933	0.51612	D	3.625	0.93960	H	4.64	0.18875	T	-7.3	0.94484	D	0.513	0.55799	-0.3310	0.74104	T	0.230	0.59620	T	10	0.31580877	0.49008	T	0.365589	0.92620	D	0.208	0.49714	.	.	0.513337797588	0.50974	0.729191064923184	0.72864	1.34284182334	0.83896	0.616675496101	0.55259	T	0.186551	0.53987	T	-0.328098	0.06256	T	-0.350486	0.39149	T	0.739514887332916	0.42711	D	0.813919	0.47523	T	0.444529	0.63693	0.5210325	0.72327	0.444529	0.63694	0.5210325	0.72328	-11.829	0.84008	D	.	.	0.203	0.42749	B	.;.	.;.	3.571419	0.50303	22.9	0.9957481467178414	0.72621	0.96672	0.70327	D	AEFDBCI	0.631823	0.61266	D	0.645575458967968	0.76081	6.421466	0.481542429018715	0.66767	4.995215	0.999999998638777	0.74766	0.59774	0.34471	0	0.615948	0.52940	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.88	4.88	0.63131	4.767000	0.61983	2.030000	0.30249	-0.259000	0.06933	0.999000	0.42656	0.964000	0.29435	0.041000	0.14368	0.0:1.0:0.0:0.0	18.067	0.89321	931	0.16308	Glucose/Sorbosone dehydrogenase;.	.	.	.	.	.	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	0.02381	1770.98	47	chr14	99659598	.	C	A	1770.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.904e+00;DP=951;ExcessHet=0.0000;FS=5.140;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.83;ReadPosRankSum=0.731;SOR=0.444	GT:AD:DP:GQ:PL	0/1:63,75:138:99:1785,0,1670	20	0	1	0
chr14	103915144	103915144	A	G	exonic	ATP5MPL	.	nonsynonymous SNV	ATP5MPL:NM_004894:exon2:c.T46C:p.Y16H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.006	N	0.780	D	.	.	0.18	T	0.035	D	0.378	T	0.758	2.746	15.14	5.4	2.033	4.451	11.811	0.411	0.173064998967	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1447179383	2.737e-06	2.736e-06	1.361e-06	4.126e-06	4.472e-05	6.4e-07	4.3e-07	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.003	0.92824	D	0.999	0.77913	D	0.997	0.86255	D	0.005505	0.32736	N	0.140719	0.613033	0.34257	D	.	.	.	0.18	0.60361	T	-4.09	0.74821	D	0.707	0.77039	0.035	0.82952	D	0.378	0.73564	T	9	0.8936007	0.88708	D	0.173065	0.84986	D	0.411	0.72252	0.741	0.87317	0.647862070789	0.64494	0.2760981139934835	0.27522	1.30530319398	0.83111	.	.	.	0.320737	0.69190	T	0.102113	0.64520	D	-0.00823248	0.69799	D	0.936492303817754	0.60554	D	0.705929	0.32863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.724	0.77702	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.082140	0.60735	24.3	0.99763718229683851	0.85254	0.92585	0.56058	D	AEFBI	0.585340	0.58380	D	0.491678501613403	0.66601	4.971467	0.441472656403274	0.64172	4.666257	0.9999959230358	0.74766	0.744818	0.98587	0	0.732433	0.95613	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.4	5.4	0.77957	4.390000	0.59409	10.899000	0.84130	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.315000	0.24854	1.0:0.0:0.0:0.0	11.811	0.51456	451	0.79296	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	611.98	36	chr14	103915144	.	A	G	611.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=765;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.00;ReadPosRankSum=0.555;SOR=0.693	GT:AD:DP:GQ:PL	0/1:40,28:68:99:626,0,915	20	0	1	0
chr14	104946204	104946204	C	0	exonic	AHNAK2	.	.	.	.	.	438	157	442	479	6	1406	0.816803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	106384.42	204	chr14	104946204	.	C	T,*	106384.42	.	AC=27,1;AF=0.643,0.024;AN=42;BaseQRankSum=-9.490e-01;DP=5401;ExcessHet=6.1794;FS=4.082;InbreedingCoeff=-0.2857;MLEAC=27,1;MLEAF=0.643,0.024;MQ=52.30;MQRankSum=-1.434e+01;QD=21.17;ReadPosRankSum=-1.256e+00;SOR=0.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,97,0:236:99:0|1:104946204_C_T:3637,0,5537,4056,5829,9885:104946204	1	7	12	0
chr14	104952357	104952357	G	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C2794G:p.L932V	.	.	429	1078	10	1	4	16	0.00553506	.	.	2350204	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-2.25	N	6.42	T	-0.958	T	0.000	T	0.066	-2.120	0.005	0.558	-0.661	-3.097	5.329	0.030	0.00742272511557	0.0002	0.00179712	0.0010	0.0010	0.0010	0	0.0005	0.0008	0.0034	0.0025	0.0010737	166	154602	rs140208061	0.0005	0.0016	0.0005	0.0005	0.0015	0.0005	0.0004	0.0013	0.0012	0.0006	0.0012	0.0006	0.0001	0.0010	0.0007	0.0004	0.0006	0.0015	0.0014	0.0083	0.0013	0.0016	0.0030	0.0013	0.0012	0.0023	0.0020	0.0011	0.0534	0.0030	0.0003	0.0016	0.0021	0.0041	0.0006	0.0026	0.0005	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.645	0.00038	N	6.42	0.00539	T	1.36	0.00878	N	0.013	0.00142	-0.9577	0.39608	T	0.000	0.00152	T	9	0.0063566864	0.00144	T	0.007423	0.19685	T	0.030	0.07022	.	.	0.0138822411134	0.00435	0.0023694028766534227	0.00219	.	.	0.226893186569	0.01746	T	0.016691	0.13750	T	-0.401434	0.02266	T	-0.814408	0.01569	T	0.00738041416499461	0.00085	T	0.312169	0.06100	T	0.016698884	0.00216	0.025168544	0.00553	0.016698884	0.00216	0.025168544	0.00553	0.75	0.00168	T	.	.	0.047	0.00073	B	.	.	-1.191806	0.00539	0.013	0.087555029349664651	0.00075	0.00044	0.00357	N	AEFBI	.	.	.	-2.17828449687301	0.00086	0.003667588	-2.06383039725873	0.00223	0.009842606	0.00296458788405106	0.09834	0.706548	0.73137	0	0.573888	0.26702	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.5	0.558	0.16454	-0.645000	0.05506	-5.224000	0.01800	-2.978000	0.00146	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4351:0.2925:0.2724	5.329	0.15229	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	10912.98	72	chr14	104952357	.	G	C	10912.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.007e+00;DP=3549;ExcessHet=0.0000;FS=1.114;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.98;MQRankSum=-1.639e+00;QD=20.28;ReadPosRankSum=0.394;SOR=0.823	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:254,284:538:99:0|1:104952357_G_C:10927,0,9580:104952357	20	0	1	0
chr14	105464692	105464692	G	C	exonic	MTA1	.	nonsynonymous SNV	MTA1:NM_004689:exon15:c.G1363C:p.A455P,	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.77	P	0.167	B	0.001	D	1.000	D	0.895	L	1.49	T	-1.106	T	0.043	T	0.588	3.195	16.69	3.16	1.123	1.921	8.361	0.162	0.0563242042316	.	.	9.083e-06	0	9.139e-05	0	0	0	0	0	6.5e-06	1	154602	rs782560865	1.583e-05	1.573e-05	9.57e-06	2.219e-05	2.079e-05	1.054e-05	8.81e-06	1.385e-05	1.156e-05	0	0	0	0	0	0	2.079e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.288	0.20683	T	0.317	0.22016	T	0.0	0.02946	B	0.001	0.04355	B	0.000674	0.42516	D	0.247182	0.949321	0.81001	D	0.55	0.14455	N	1.47	0.31987	T	-1.76	0.41618	N	0.368	0.44857	-1.1059	0.03447	T	0.043	0.18326	T	10	0.1855964	0.33987	T	0.056324	0.66563	D	0.162	0.41843	0.262	0.20631	0.46560685065	0.46186	0.7131976196050837	0.71261	0.788002502454	0.65629	0.576582491398	0.49604	T	0.159081	0.50237	T	-0.0786051	0.39941	T	-0.330416	0.41422	T	0.34137162566185	0.26678	T	0.907309	0.71352	D	0.24042809	0.46946	0.19325294	0.42883	0.24042809	0.46946	0.19325294	0.42882	-2.594	0.06458	T	.	.	0.102	0.18037	B	.;.;.;.	.;.;.;.	3.966948	0.58223	24.0	0.99301549626455365	0.58650	0.87591	0.47181	D	AEFBI	0.500186	0.53355	D	-0.141337559902093	0.35604	2.047203	-0.0223074147522009	0.38710	2.28452	0.99630235622063	0.34656	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	5.03	3.16	0.35406	2.066000	0.41078	6.552000	0.55914	0.676000	0.76740	0.995000	0.38783	1.000000	0.68203	0.991000	0.66497	0.2533:0.0:0.7467:0.0	8.361	0.31518	940	0.13648	.;.;.;.	.	.	.	.	.	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	0.02381	2238.98	40	chr14	105464692	.	G	C	2238.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.290e-01;DP=1107;ExcessHet=0.0000;FS=1.304;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.23;ReadPosRankSum=-2.010e-01;SOR=0.712	GT:AD:DP:GQ:PL	0/1:64,83:147:99:2253,0,1636	20	0	1	0
chr15	20534613	20534613	C	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	679.27	87	chr15	20534613	.	C	*,T	679.27	.	AC=7,3;AF=0.175,0.075;AN=40;BaseQRankSum=-3.180e-01;DP=2018;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3332;MLEAC=7,3;MLEAF=0.175,0.075;MQ=54.83;MQRankSum=0.894;QD=0.62;ReadPosRankSum=2.91;SOR=0.709	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:50,14,0:81:99:.:.:432,0,2029,651,2114,3003	10	0	7	1
chr15	20534634	20534718	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	0	exonic	GOLGA6L6	.	.	.	.	.	495	631	268	4	124	400	0.179454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	2232.49	67	chr15	20534634	.	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	C,*	2232.49	.	AC=9,5;AF=0.237,0.132;AN=38;BaseQRankSum=1.18;DP=1927;ExcessHet=14.4320;FS=1.229;InbreedingCoeff=-0.5556;MLEAC=10,5;MLEAF=0.263,0.132;MQ=51.48;MQRankSum=1.62;QD=2.28;ReadPosRankSum=-1.960e-01;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:50,0,14:81:99:.:.:432,651,3003,0,2114,2029	5	0	9	2
chr15	20534647	20534647	C	0	exonic	GOLGA6L6	.	.	.	.	.	647	584	57	3	231	294	0.0511779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	649.96	67	chr15	20534647	.	C	*,T	649.96	.	AC=14,2;AF=0.333,0.048;AN=42;BaseQRankSum=0.996;DP=1957;ExcessHet=20.9642;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=14,2;MLEAF=0.333,0.048;MQ=52.26;MQRankSum=0.013;QD=0.62;ReadPosRankSum=0.174;SOR=0.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:50,14,0:81:99:.:.:432,0,2029,651,2114,3003	5	0	14	0
chr15	20534663	20534663	G	0	exonic	GOLGA6L6	.	.	.	.	.	528	730	36	1	227	265	0.0253672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	276.43	67	chr15	20534663	.	G	GC,*	276.43	.	AC=1,12;AF=0.025,0.300;AN=40;BaseQRankSum=1.27;DP=1702;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4737;MLEAC=1,12;MLEAF=0.025,0.300;MQ=50.51;MQRankSum=-1.904e+00;QD=0.35;ReadPosRankSum=0.00;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:33,6,17:56:99:0|1:20534663_G_*:480,329,1697,0,1134,1461:20534663	7	0	1	1
chr15	20534667	20534667	C	0	exonic	GOLGA6L6	.	.	.	.	.	584	671	32	1	234	268	0.0247093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	276.54	67	chr15	20534667	.	C	*,CA	276.54	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=2.81;DP=1654;ExcessHet=14.4320;FS=0.598;InbreedingCoeff=-0.5273;MLEAC=13,1;MLEAF=0.325,0.025;MQ=49.17;MQRankSum=-1.904e+00;QD=0.32;ReadPosRankSum=0.453;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,17,6:58:99:0|1:20534663_G_*:483,0,1419,338,1218,1790:20534663	6	0	13	1
chr15	20534668	20534670	CTT	0	exonic	GOLGA6L6	.	.	.	.	.	594	661	33	1	233	268	0.0257922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	240.54	67	chr15	20534668	.	CTT	*,C	240.54	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=1.75;DP=1651;ExcessHet=14.4320;FS=0.595;InbreedingCoeff=-0.5273;MLEAC=13,1;MLEAF=0.325,0.025;MQ=49.12;MQRankSum=-1.948e+00;QD=0.28;ReadPosRankSum=1.06;SOR=0.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,17,6:58:99:0|1:20534663_G_*:483,0,1419,338,1218,1790:20534663	6	0	13	1
chr15	20534672	20534672	T	0	exonic	GOLGA6L6	.	.	.	.	.	554	704	31	1	232	265	0.0229008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	204.03	67	chr15	20534672	.	T	*,C	204.03	.	AC=13,1;AF=0.342,0.026;AN=38;BaseQRankSum=1.01;DP=1514;ExcessHet=15.6281;FS=0.000;InbreedingCoeff=-0.5167;MLEAC=14,1;MLEAF=0.368,0.026;MQ=49.17;MQRankSum=-1.240e+00;QD=0.24;ReadPosRankSum=0.861;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,17,4:55:99:0|1:20534663_G_*:486,0,1377,422,1260,1838:20534663	5	0	13	2
chr15	20845872	20845872	T	C	exonic	POTEB;POTEB2	.	nonsynonymous SNV	POTEB2:NM_001277303:exon9:c.A1259G:p.N420S	.	.	436	962	122	2	0	126	0.0614634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1023	0.1962	0.1486	0.1165	0.0769	0.0872	0.0804	0.0657	0.0592295	9157	154602	rs79335648	8.749e-05	6.598e-05	5.516e-05	0.0001	0.0007	4.714e-05	3.515e-05	0.0001	4.787e-05	0	0.0007	0	0.0004	0	0	8.064e-05	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.305	0.14256	T	0.839	0.03621	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	2.32	0.16640	T	-0.63	0.18459	N	0.008	0.00068	.	.	.	.	.	.	.	0.0018360615	0.00025	T	.	.	.	.	.	.	.	.	.	0.006055757321101937	0.00574	1.56174073802	0.88049	0.741252064705	0.73158	T	0.003477	0.02879	T	-0.366787	0.03760	T	-0.76464	0.02949	T	.	.	.	0.39826	0.10085	T	0.023043897	0.01012	0.036473703	0.03101	0.023043897	0.01012	0.036473703	0.03101	-3.291	0.13621	T	.	.	0.079	0.07412	B	.	.	-0.426343	0.02115	0.200	0.31482124279507218	0.01776	0.00335	0.01744	N	AEFI	0.024797	0.01593	N	.	.	.	.	.	.	1.07113283285327E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.4	-2.79	0.05494	-0.085000	0.11215	-10.088000	0.00741	-0.694000	0.04098	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.2288:0.3611:0.0:0.4101	2.473	0.04291	1000	0.00083	.	.	.	.	.	.	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	0.04762	1949.11	33	chr15	20845872	.	T	C	1949.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.838;DP=1793;ExcessHet=0.1072;FS=0.702;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=38.76;MQRankSum=-4.150e-01;QD=1.73;ReadPosRankSum=1.15;SOR=0.596	GT:AD:DP:GQ:PL	0/1:457,86:543:99:733,0,13098	19	0	2	0
chr15	21652117	21652117	A	C	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.A234C:p.L78F,	.	.	465	768	265	24	0	313	0.169281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.738e-06	0.0002	4.777e-06	8.48e-06	8.749e-05	1.79e-06	5e-07	.	.	8.749e-05	0	7.657e-05	0	0	0	3.89e-06	0	0	8.705e-06	0.0001	0	1.8e-05	3.488e-05	0	0	.	.	3.488e-05	0	0	0	0	0	0	0	0	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	0.000108	0.50451	N	0.000000	0.99988	0.19925	P	.	.	.	.	.	.	.	.	.	0.182	0.19728	-1.0434	0.16294	T	0.000	0.00011	T	9	0.0018065572	0.00024	T	.	.	.	.	.	0.381	0.39807	.	.	0.040043207446890695	0.03950	.	.	0.311506986618	0.12134	T	.	.	.	-0.674746	0.00051	T	-0.598182	0.12964	T	0.00326191471079691	0.00034	T	0.287271	0.05164	T	.	.	.	.	.	.	.	.	-0.124	0.00396	T	.	.	0.073	0.04599	B	.;.	.;.	0.850845	0.12232	8.774	0.66924304402247636	0.08201	0.00687	0.02939	N	AEI	.	.	.	-1.62473285776486	0.01146	0.04979641	-1.44264627457213	0.02837	0.1312614	5.3174549639366E-4	0.07248	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.24	2.28	0.27583	-1.083000	0.03507	-0.079000	0.12201	-0.781000	0.03322	0.002000	0.15269	0.160000	0.23254	0.175000	0.21139	0.3717:0.6283:0.0:0.0	9.685	0.39261	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	7981.03	35	chr15	21652117	.	A	C	7981.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=1.67;DP=1245;ExcessHet=1.7912;FS=1.131;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=28.20;MQRankSum=-5.080e-01;QD=11.27;ReadPosRankSum=0.254;SOR=0.597	GT:AD:DP:GQ:PL	0/1:34,48:82:99:1165,0,768	15	0	6	0
chr15	21652190	21652190	C	T	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.C307T:p.L103F,	.	.	442	748	311	21	0	353	0.190914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.129e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.389e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.283	0.21478	T	.	.	.	.	.	.	0.261126	0.15312	N	0.485335	0.999366	0.21303	P	.	.	.	.	.	.	.	.	.	0.103	0.08646	-0.9711	0.36967	T	0.000	0.00011	T	9	0.0015220642	0.00017	T	.	.	.	.	.	.	.	.	.	0.030007910357616414	0.02949	.	.	0.290178626776	0.08949	T	.	.	.	-0.66378	0.00060	T	-0.582431	0.14328	T	0.000522953042824942	0.00004	T	0.540346	0.18307	T	.	.	.	.	.	.	.	.	-5.352	0.40455	T	.	.	0.093	0.14062	B	.;.	.;.	1.025571	0.14055	10.62	0.93500601886041435	0.23307	0.07624	0.13632	N	AEFCI	.	.	.	-0.844437362999696	0.12186	0.5925257	-0.887036193530605	0.12400	0.6376486	3.35547801273524E-4	0.06583	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	0.085	0.13749	-0.579000	0.05927	-1.581000	0.05125	0.268000	0.18485	0.000000	0.06391	0.000000	0.08366	0.409000	0.26983	0.0:0.3722:0.2141:0.4137	3.269	0.06470	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	13026.03	35	chr15	21652190	.	C	T	13026.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=4.04;DP=1982;ExcessHet=1.7912;FS=3.181;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=32.24;MQRankSum=-2.000e-03;QD=11.47;ReadPosRankSum=0.342;SOR=0.777	GT:AD:DP:GQ:PL	0/1:58,68:126:99:1663,0,1339	15	0	6	0
chr15	21652283	21652283	G	C	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.G400C:p.V134L,	.	.	444	742	317	19	0	355	0.19304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1277263862	0.0001	0.0001	8.806e-05	0.0001	0.0006	8.456e-05	7.79e-05	0.0003	0.0002	0.0006	0.0002	0	0	0	0	9.504e-05	0.0002	9.725e-05	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0005	0.0004	0.0008	0	0.0003	0	0	0	0	6.04e-05	0.0020	0	.	.	.	0.136	0.34009	T	.	.	.	.	.	.	0.000469	0.44119	D	0.000000	1	0.08975	P	.	.	.	.	.	.	.	.	.	0.218	0.24385	-0.8916	0.48793	T	0.000	0.00011	T	9	0.001629144	0.00019	T	.	.	.	.	.	0.312	0.28612	.	.	0.07580462846120836	0.07516	.	.	0.250244468451	0.03793	T	.	.	.	-0.532543	0.00371	T	-0.393918	0.34092	T	0.031530545555236	0.02231	T	0.857714	0.54741	D	.	.	.	.	.	.	.	.	-5.754	0.44172	T	.	.	0.162	0.35767	B	.;.	.;.	2.487917	0.32091	18.94	0.99194466592430841	0.55083	0.14978	0.18683	N	AEFHCI	.	.	.	-0.187369143140256	0.33660	1.91217	-0.318033235840288	0.27516	1.527408	0.00464552456930878	0.10654	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	2.26	0.27418	2.575000	0.45689	1.571000	0.27417	0.299000	0.18918	0.133000	0.23395	0.004000	0.18990	0.984000	0.60418	0.2721:0.0:0.7279:0.0	5.367	0.15423	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	18653.03	35	chr15	21652283	.	G	C	18653.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=0.441;DP=1829;ExcessHet=1.7912;FS=3.282;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=32.90;MQRankSum=-5.490e-01;QD=18.62;ReadPosRankSum=0.182;SOR=0.487	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,69:117:99:0|1:21652283_G_C:2672,0,1788:21652283	15	0	6	0
chr15	21652290	21652290	C	A	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.C407A:p.A136D,	.	.	445	758	303	16	0	335	0.180983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325108497	7.359e-05	0.0001	5.407e-05	9.171e-05	0.0002	5.914e-05	5.388e-05	9.719e-05	7.073e-05	4.42e-05	0.0002	0	0	0	0	7.582e-05	0.0001	6.801e-05	8.658e-05	0.0002	7.449e-05	9.95e-05	0.0003	4.464e-05	3.34e-05	7.618e-05	4.051e-05	7.641e-05	0	0.0003	0	0	0	0	2.089e-05	0.0021	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.000167	0.48594	D	0.000000	0.0199557	0.39625	P	.	.	.	.	.	.	.	.	.	0.631	0.64478	-0.9692	0.37366	T	0.000	0.00114	T	9	0.002110511	0.00030	T	.	.	.	.	.	.	.	.	.	0.4398908667552438	0.43906	.	.	0.395352125168	0.24421	T	.	.	.	-0.179371	0.23830	T	0.113389	0.77796	D	0.0805372903841944	0.10055	T	0.976052	0.91638	D	.	.	.	.	.	.	.	.	-13.572	0.91582	D	.	.	0.411	0.60193	A	.;.	.;.	4.705929	0.75548	26.4	0.99729135027837246	0.82619	0.93345	0.57969	D	AEFHCI	.	.	.	0.668177313905204	0.77549	6.696248	0.481736136598001	0.66782	4.996887	0.99991764154766	0.45857	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	3.2	0.35826	4.696000	0.61460	5.281000	0.48180	0.268000	0.18485	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	12.276	0.54051	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	18491.03	35	chr15	21652290	.	C	A	18491.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-6.300e-01;DP=1815;ExcessHet=1.7912;FS=3.262;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=32.87;MQRankSum=-4.920e-01;QD=18.57;ReadPosRankSum=0.519;SOR=0.502	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,67:114:99:0|1:21652283_G_C:2626,0,1772:21652283	15	0	6	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.001	N	1.000	P	-3.045	N	8.91	T	-0.972	T	0.000	T	0.111	-2.796	0	0.487	-0.314	-1.168	6.210	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	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.875	49876.32	41	chr15	22081297	.	T	C	49876.32	.	AC=35;AF=0.875;AN=40;BaseQRankSum=9.54;DP=2745;ExcessHet=0.0454;FS=83.218;InbreedingCoeff=0.3143;MLEAC=36;MLEAF=0.900;MQ=39.56;MQRankSum=-1.124e+01;QD=20.13;ReadPosRankSum=0.928;SOR=4.411	GT:AD:DP:GQ:PL	1/1:0,96:96:99:3088,289,0	1	16	3	1
chr15	22768275	22768275	C	0	exonic	GOLGA6L7	.	.	.	.	.	1270	216	4	27	5	63	0.118367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5455	544.05	2	chr15	22768275	.	C	G,*	544.05	.	AC=8,4;AF=0.364,0.182;AN=22;BaseQRankSum=1.14;DP=74;ExcessHet=0.1935;FS=1.619;InbreedingCoeff=0.2348;MLEAC=12,6;MLEAF=0.545,0.273;MQ=53.08;MQRankSum=-9.670e-01;QD=15.11;ReadPosRankSum=-9.900e-02;SOR=0.465	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2,0:2:6:1|1:22768275_C_G:52,6,0,57,6,71:22768275	3	3	2	10
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	47381.92	167	chr15	23440492	.	C	*,T	47381.92	.	AC=19,19;AF=0.452,0.452;AN=42;BaseQRankSum=1.77;DP=3542;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=19,19;MLEAF=0.452,0.452;MQ=58.25;MQRankSum=-4.110e-01;QD=13.88;ReadPosRankSum=0.477;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,92,105:197:99:1|0:23440436_T_C:7037,3463,4271,3763,0,3444:23440436	0	0	2	0
chr15	25681005	25681005	T	C	exonic	ATP10A	.	nonsynonymous SNV	ATP10A:NM_024490:exon18:c.A3562G:p.I1188V,	.	.	417	1101	4	0	0	4	0.00181324	.	.	714346	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.67	T	0.002	B	0.002	B	0.000	N	0.997	D	0.46	N	0.98	T	-1.083	T	0.037	T	0.169	0.659	7.535	2.75	0.271	2.567	7.786	0.073	0.00945249379053	0.0052	0.00239617	0.0036	0.0018	0.0033	0	0.0023	0.0054	0.0011	6.056e-05	0.0038486	595	154602	rs2076745	0.0052	0.0052	0.0053	0.0050	0.0060	0.0051	0.0050	0.0059	0.0058	0.0015	0.0038	0.0101	0	0.0024	0.0012	0.0060	0.0047	0.0001	0.0041	0.0041	0.0047	0.0036	0.0058	0.0039	0.0038	0.0054	0.0052	0.0023	0.0011	0.0039	0.0112	0	0.0019	0.0068	0.0058	0.0071	0.0002	0.503	0.07670	T	0.663	0.06448	T	0.002	0.09854	B	0.002	0.06944	B	0.000001	0.62929	N	0.096626	0.996751	0.43396	D	1.49	0.37298	L	0.98	0.42122	T	-0.17	0.09627	N	0.247	0.27910	-1.0832	0.06739	T	0.037	0.16160	T	10	0.0073272884	0.00167	T	0.009452	0.24763	T	0.073	0.21317	.	.	0.15499578495	0.15088	0.4834675839350748	0.48266	0.133997890471	0.15095	0.523544967175	0.42126	T	0.00858	0.07868	T	-0.529111	0.00389	T	-0.528663	0.19419	T	0.00906692067822099	0.00114	T	0.717028	0.32946	T	0.07975324	0.18237	0.08240758	0.18804	0.07975324	0.18236	0.08240758	0.18803	-6.501	0.50294	T	.	.	0.107	0.19919	B	.	.	2.169134	0.27642	17.53	0.84396623647367541	0.15267	0.92641	0.56191	D	AEFDBI	0.557581	0.56715	D	-0.555498440577391	0.20311	1.069814	-0.389345295164469	0.25313	1.391317	0.981951731497745	0.30332	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.11	2.75	0.31439	2.556000	0.45524	1.791000	0.28799	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:0.0729:0.1393:0.7878	7.786	0.28255	625	0.65529	P-type ATPase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3237.11	35	chr15	25681005	.	T	C	3237.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.698e+00;DP=1224;ExcessHet=0.1072;FS=8.401;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.44;ReadPosRankSum=0.634;SOR=0.388	GT:AD:DP:GQ:PL	0/1:65,81:146:99:1913,0,1588	19	0	2	0
chr15	31229304	31229304	G	-	exonic	LOC283710	.	frameshift deletion	LOC283710:NM_001243538:exon2:c.75delC:p.R26Gfs*101,	.	.	454	9	11	367	681	1426	0.976409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	53256.77	60	chr15	31229302	.	CGG	C,CG	53256.77	.	AC=29,13;AF=0.690,0.310;AN=42;BaseQRankSum=1.54;DP=1738;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=30,12;MLEAF=0.714,0.286;MQ=60.00;MQRankSum=0.00;QD=28.91;ReadPosRankSum=-3.970e-01;SOR=0.473	GT:AD:DP:GQ:PL	2/2:1,5,50:56:17:1446,1260,1287,138,17,0	0	10	0	0
chr15	33066576	33066576	A	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.T1309C:p.S437P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.974	D	0.014	N	0.997	N	.	.	0.86	T	-0.312	T	0.279	T	0.74	2.736	15.11	5.96	2.285	2.823	11.519	0.118	0.0439174776103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.269e-06	0.0003	8.328e-06	4.195e-06	3.048e-05	2.95e-06	2.14e-06	3.16e-06	2.28e-06	3.048e-05	0	0	0	0	0	7.335e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.149	0.63918	T	0.999	0.90584	D	0.961	0.73157	D	0.013889	0.28700	N	0.367334	.	.	.	.	.	.	0.86	0.52416	T	-1.05	0.30140	N	0.667	0.67564	-0.3122	0.74643	T	0.279	0.65058	T	8	0.56316704	0.64902	D	0.043917	0.61227	D	0.118	0.32913	0.237	0.16760	0.692833615445	0.69019	.	.	0.0243119155432	0.02469	.	.	.	.	.	.	0.065645	0.60314	T	-0.143482	0.59815	T	0.97686767578125	0.71575	D	.	.	.	.	.	.	.	.	.	.	.	-11.775	0.83737	D	.	.	0.768	0.82694	P	.;.	.;.	1.889637	0.24000	16.23	0.99337903151617613	0.60051	0.70445	0.34593	D	AEFBCI	0.339556	0.43666	N	0.607978743589503	0.73679	6.005621	0.621611519535191	0.76513	6.504682	0.999997974355125	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	2.674000	0.46532	7.052000	0.57375	0.756000	0.94297	0.994000	0.38300	1.000000	0.68203	0.859000	0.40722	0.8664:0.0:0.0:0.1336	11.519	0.49792	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	2973.31	80	chr15	33066576	.	A	G	2973.31	.	AC=8;AF=0.333;AN=24;BaseQRankSum=-3.410e-01;DP=1903;ExcessHet=3.5521;FS=152.585;InbreedingCoeff=-0.4238;MLEAC=11;MLEAF=0.458;MQ=60.00;MQRankSum=0.00;QD=3.75;ReadPosRankSum=0.714;SOR=10.260	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,16:81:99:0|1:33066574_C_T:341,0,2214:33066574	4	0	8	9
chr15	33066577	33066577	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1308C:p.E436D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.986	D	0.799	P	0.001	D	.	.	.	.	0.34	T	-0.655	T	0.195	T	0.183	2.701	14.99	3.06	0.846	0.241	5.341	0.121	0.0297600126912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.862e-07	0.0001	0	1.379e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.31834	T	0.298	0.32355	T	0.859	0.61523	P	0.569	0.58136	P	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.34	0.59717	T	-1.06	0.27669	N	0.523	0.55280	-0.6555	0.62473	T	0.195	0.54913	T	8	0.3596483	0.52628	T	0.02976	0.52206	D	0.121	0.33580	0.179	0.08626	0.723881056707	0.72144	.	.	0.0215900956345	0.02143	.	.	.	.	.	.	-0.156676	0.27274	T	-0.46283	0.26291	T	0.960661649703979	0.65867	D	.	.	.	.	.	.	.	.	.	.	.	-8.241	0.62700	D	.	.	0.231	0.54353	B	.;.	.;.	0.926501	0.13016	9.521	0.9948329941711106	0.67014	0.72494	0.35481	D	AEFBCI	0.313711	0.41879	N	0.240855582260182	0.53189	3.48888	0.245955025105221	0.52420	3.416909	0.999871332870031	0.44625	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	3.06	0.34374	0.207000	0.17194	0.009000	0.13411	0.599000	0.40250	0.983000	0.35670	0.800000	0.26941	0.903000	0.43903	0.1331:0.5968:0.0:0.2702	5.341	0.15286	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.375	3066.26	80	chr15	33066577	.	C	G	3066.26	.	AC=9;AF=0.375;AN=24;BaseQRankSum=-6.420e-01;DP=1917;ExcessHet=4.7172;FS=160.684;InbreedingCoeff=-0.4737;MLEAC=12;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=3.55;ReadPosRankSum=0.903;SOR=10.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,16:81:99:0|1:33066574_C_T:341,0,2214:33066574	3	0	9	9
chr15	33066583	33066583	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1302C:p.E434D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.989	D	0.803	P	0.000	D	1.000	N	.	.	1.03	T	-0.682	T	0.170	T	0.554	2.292	13.62	4.1	0.872	0.096	10.665	0.205	0.0174432321193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.18061	T	0.252	0.29056	T	0.724	0.62824	P	0.292	0.58300	B	0.000000	0.84330	D	0.049723	.	.	.	.	.	.	1.03	0.48142	T	-0.87	0.23590	N	0.263	0.29774	-0.6821	0.61275	T	0.170	0.51052	T	8	0.18176183	0.33423	T	0.017443	0.39139	T	0.205	0.49236	0.196	0.10839	0.633120732306	0.63011	.	.	0.0215900956345	0.02143	.	.	.	.	.	.	-0.101551	0.36169	T	-0.383648	0.35295	T	0.987011551856995	0.77596	D	.	.	.	.	.	.	.	.	.	.	.	-7.933	0.60613	D	.	.	0.457	0.69267	A	.;.	.;.	1.631232	0.20829	14.93	0.99234608538238822	0.56342	0.62108	0.31682	D	AEFBCI	0.207444	0.33361	N	0.193011064254835	0.50863	3.272384	0.226642513300989	0.51332	3.316546	0.999944989826091	0.47345	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	4.1	0.47196	0.147000	0.16021	1.800000	0.28874	0.599000	0.40250	0.988000	0.36536	1.000000	0.68203	0.964000	0.52637	0.0:0.7464:0.0:0.2536	10.665	0.44923	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1538	573.81	76	chr15	33066583	.	C	G,T	573.81	.	AC=2,2;AF=0.077,0.077;AN=26;BaseQRankSum=-1.984e+00;DP=1824;ExcessHet=0.6776;FS=218.128;InbreedingCoeff=-0.2205;MLEAC=2,3;MLEAF=0.077,0.115;MQ=60.00;MQRankSum=0.00;QD=1.65;ReadPosRankSum=0.751;SOR=7.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,6,0:84:1:0|1:33066574_C_T:1,0,3165,236,3183,3419:33066574	9	0	2	8
chr15	34152845	34152845	G	A	exonic	KATNBL1	.	nonsynonymous SNV	KATNBL1:NM_024713:exon4:c.C383T:p.S128F,	.	.	442	1079	1	0	0	1	0.000463177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.265	B	0.271	B	0.000	D	1.000	D	0.895	L	.	.	-0.711	T	0.223	T	0.293	3.559	18.15	5.47	2.572	7.918	19.325	0.266	0.0046465524112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.021	0.66756	D	0.265	0.31634	B	0.271	0.39904	B	0.000177	0.48594	D	0.217778	0.999985	0.54805	D	2.075	0.57047	M	.	.	.	-0.81	0.69714	N	0.408	0.44857	-0.7113	0.59888	T	0.223	0.58627	T	9	0.2953087	0.47099	T	0.004647	0.11534	T	0.266	0.57999	0.291	0.25241	0.283761946502	0.27984	0.4217510404636234	0.42092	0.297920051926	0.32171	0.504614889622	0.39470	T	0.036903	0.40587	T	0.0110764	0.53172	T	-0.221866	0.52557	T	0.946054637432098	0.62390	D	0.90061	0.65471	D	0.19317473	0.41017	0.20456618	0.44586	0.19317473	0.41017	0.20456618	0.44585	-5.771	0.44321	T	.	.	0.118	0.29968	B	.;.;.;.;.;.	.;.;.;.;.;.	4.381673	0.67552	25.1	0.99700000715295589	0.80591	0.98537	0.83843	D	AEFGBI	0.893637	0.83179	D	0.286627128841953	0.55468	3.711045	0.444757048240444	0.64381	4.691954	0.999999999951493	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.47	5.47	0.80345	8.386000	0.90052	9.829000	0.81850	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.325	0.94246	659	0.61982	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1593.98	34	chr15	34152845	.	G	A	1593.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.857;DP=812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=-1.113e+00;SOR=0.750	GT:AD:DP:GQ:PL	0/1:62,64:126:99:1608,0,1481	20	0	1	0
chr15	40808308	40808308	G	A	exonic	ZFYVE19	.	nonsynonymous SNV	ZFYVE19:NM_032850:exon2:c.G179A:p.R60Q,	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	.	.	.	.	.	.	1.000	N	.	.	1.7	T	-1.015	T	0.042	T	0.04	1.400	10.62	2.79	0.870	0.031	6.144	0.030	0.00140092744854	0.0003	.	0.0001	0.0002	0	0	0	0.0001	0	0.0002	9.7e-05	15	154602	rs374167712	8.784e-05	8.824e-05	7.849e-05	9.728e-05	7.198e-05	7.503e-05	7.047e-05	5.887e-05	5.453e-05	2.988e-05	0	0.0011	0	2.628e-05	0	7.198e-05	0.0002	6.957e-05	7.899e-05	7.883e-05	7.719e-05	8.088e-05	8.825e-05	4.504e-05	3.518e-05	3.763e-05	2.576e-05	0	0	0	0.0017	0	0	0	8.825e-05	0	0	0.377	0.11298	T	0.391	0.15456	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.7	0.26885	T	0.11	0.05706	N	0.157	0.16308	-1.0146	0.25464	T	0.042	0.17869	T	6	0.025811285	0.00764	T	0.001401	0.02062	T	0.030	0.07022	.	.	0.0482279557977	0.04254	.	.	.	.	0.171017423272	0.00036	T	.	.	.	-0.542705	0.00323	T	-0.780666	0.02433	T	0.00724485510015628	0.00083	T	0.374863	0.08927	T	.	.	.	.	.	.	.	.	-3.865	0.21779	T	.	.	0.080	0.07602	B	.	.	0.309442	0.06847	3.375	0.58364373786188428	0.05976	0.00437	0.02136	N	AEFDGBCI	0.016790	0.00399	N	-0.722948422585148	0.15378	0.774454	-0.848888677245303	0.13314	0.6900164	0.999996697530111	0.74766	0.608746	0.35421	0	0.516746	0.08562	0	0.731467	0.93227	0	0.627883	0.49187	0	.	.	4.0	2.79	0.31792	0.025000	0.13469	-0.705000	0.07776	-0.719000	0.03822	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	0.8845:0.0:0.1155:0.0	6.144	0.19493	233	0.90919	.	.	.	.	.	.	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	0.02381	1169.98	45	chr15	40808308	.	G	A	1169.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.060e-01;DP=930;ExcessHet=0.0000;FS=0.658;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.00;ReadPosRankSum=0.535;SOR=0.603	GT:AD:DP:GQ:PL	0/1:75,55:130:99:1184,0,1729	20	0	1	0
chr15	41096253	41096253	G	C	exonic	INO80	.	nonsynonymous SNV	INO80:NM_017553:exon2:c.C58G:p.L20V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.993	D	0.967	D	0.000	D	1.000	D	1.7	L	-3.11	D	0.770	D	0.844	D	0.554	4.377	23.1	5.9	2.793	9.434	20.272	0.499	0.230949694038	.	.	8.341e-06	0	0	0	0	1.513e-05	0	0	6.5e-06	1	154602	rs766496543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.07	0.43721	T	0.993	0.65571	D	0.967	0.71530	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.755	0.45626	L	-3.11	0.92721	D	-0.97	0.25770	N	0.658	0.68255	0.770	0.94036	D	0.844	0.94774	D	10	0.575322	0.65547	D	0.23095	0.88253	D	0.499	0.78288	0.236	0.16608	0.661633646292	0.65880	0.5260119555163638	0.52525	0.310035681446	0.33317	0.780231118202	0.78962	T	0.05765	0.30625	T	0.170503	0.71171	D	0.00713946	0.70798	D	0.634292668284165	0.37796	D	0.927907	0.73422	D	0.27592942	0.50656	0.27308488	0.53225	0.27592942	0.50655	0.27308488	0.53224	-4.238	0.27298	T	.	.	0.140	0.33846	B	.;.;.	.;.;.	4.624555	0.73463	26.0	0.99802759949871023	0.88728	0.98127	0.79829	D	AEFDBCI	0.868620	0.78881	D	0.846005111031047	0.88879	9.747598	0.867441971670391	0.93991	12.42632	0.999999999923393	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.9	5.9	0.94952	9.602000	0.97623	11.835000	0.97647	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.272	0.98481	295	0.88218	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	252.56	57	chr15	41096253	.	G	C	252.56	.	AC=4;AF=0.100;AN=40;BaseQRankSum=-3.708e+00;DP=1328;ExcessHet=0.6776;FS=161.759;InbreedingCoeff=-0.1234;MLEAC=4;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=0.70;ReadPosRankSum=0.522;SOR=9.149	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,22:86:99:0|1:41096253_G_C:153,0,1754:41096253	16	0	4	1
chr15	42178529	42178529	C	G	exonic	VPS39	.	nonsynonymous SNV	VPS39:NM_015289:exon9:c.G760C:p.V254L	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.93	T	0.019	B	0.04	B	0.000	D	1.000	D	1.12	L	3.27	T	-1.057	T	0.021	T	0.581	2.460	14.18	5.18	2.687	5.841	18.886	0.161	0.0173728213133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.722e-06	1.375e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	0	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.479	0.08609	T	0.693	0.05863	T	0.009	0.17989	B	0.023	0.23831	B	0.000034	0.55875	D	0.120436	1	0.81001	D	1.2	0.30300	L	3.27	0.06602	T	-0.68	0.19509	N	0.533	0.56662	-1.0573	0.12439	T	0.021	0.08824	T	10	0.3075563	0.48257	T	0.017373	0.39041	T	0.161	0.41658	0.585	0.71245	0.330589388543	0.32661	0.5452908116105134	0.54455	0.4042939334	0.41333	0.752054810524	0.74750	T	0.044377	0.26796	T	-0.109314	0.34882	T	-0.394798	0.33991	T	0.724299728870392	0.41917	D	0.961404	0.85511	D	0.08250094	0.19009	0.08650428	0.20045	0.08250094	0.19009	0.08650428	0.20045	-2.764	0.08313	T	.	.	0.394	0.59228	A	.;.	.;.	3.245252	0.44319	21.9	0.98900777438370058	0.48181	0.98040	0.79094	D	AEFBI	0.737051	0.68237	D	-0.120506145603728	0.36501	2.110663	0.0902864824352416	0.44057	2.695004	0.999999826766514	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.18	5.18	0.71140	5.911000	0.69675	7.601000	0.61564	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	18.886	0.92347	351	0.85421	Citron homology (CNH) domain|Citron homology (CNH) domain|Citron homology (CNH) domain;Citron homology (CNH) domain|Citron homology (CNH) domain|Citron homology (CNH) 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	0.02381	526.98	34	chr15	42178529	.	C	G	526.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.516e+00;DP=756;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.17;ReadPosRankSum=-1.407e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/1:20,20:40:99:541,0,554	20	0	1	0
chr15	45263950	45263950	G	T	exonic	SLC28A2	.	nonsynonymous SNV	SLC28A2:NM_004212:exon6:c.G516T:p.E172D,	.	.	413	1089	20	0	0	20	0.00909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.165	B	0.115	B	0.000	D	1.000	D	1.87	L	4.66	T	-0.886	T	0.006	T	0.145	4.287	22.4	4.04	0.841	2.689	7.920	0.112	0.00895856816849	0.0042	0.00199681	0.0030	0.0009	0.0010	0	0.0017	0.0039	0	0.0043	0.0030724	475	154602	rs113624548	0.0037	0.0037	0.0037	0.0037	0.0047	0.0037	0.0036	0.0041	0.0041	0.0008	0.0009	3.827e-05	0	0.0016	0.0047	0.0042	0.0035	0.0041	0.0026	0.0026	0.0026	0.0025	0.0044	0.0023	0.0023	0.0039	0.0038	0.0008	0.0121	0.0009	0	0.0004	0.0012	0	0.0044	0.0024	0.0033	0.096	0.58626	T	0.109	0.57104	T	0.165	0.28508	B	0.115	0.31843	B	0.000025	0.55875	D	0.184484	0.999979	0.53665	D	2.53	0.73802	M	4.66	0.58029	T	-2.12	0.49018	N	0.349	0.39052	-0.8862	0.49257	T	0.006	0.01981	T	10	0.009833723	0.00221	T	0.008959	0.23607	T	0.112	0.31546	0.158	0.06178	0.68937278472	0.68670	0.4067162243965829	0.40587	0.0860025168769	0.09718	0.30266046524	0.10798	T	0.033661	0.23005	T	-0.452273	0.01095	T	-0.421619	0.30890	T	0.0228466091390399	0.01005	T	0.89491	0.63503	D	0.17332315	0.38074	0.15508768	0.36369	0.17332315	0.38074	0.15508768	0.36368	-8.327	0.63277	D	.	.	0.175	0.55631	B	.;.	.;.	2.861872	0.37813	20.6	0.99861045185208053	0.93911	0.90850	0.52379	D	AEFGBI	0.535409	0.55404	D	-0.00782973758745723	0.41500	2.483424	0.110874095308859	0.45104	2.779562	0.999976340995865	0.50053	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.9	4.04	0.46262	2.857000	0.48048	2.404000	0.32608	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.2466:0.0:0.7534:0.0	7.920	0.29000	607	0.67291	.;.	.	.	.	.	.	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	0.04762	1717.11	35	chr15	45263950	.	G	T	1717.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.04;DP=869;ExcessHet=0.1072;FS=4.184;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.26;ReadPosRankSum=0.153;SOR=1.012	GT:AD:DP:GQ:PL	0/1:75,33:108:99:761,0,1893	19	0	2	0
chr15	50182846	50182846	C	T	exonic	SLC27A2	.	nonsynonymous SNV	SLC27A2:NM_001159629:exon1:c.C419T:p.A140V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.709	P	0.244	B	0.223	N	1.000	N	2.455	M	0.88	T	-0.959	T	0.127	T	0.126	2.765	15.21	1.31	0.176	0.665	13.601	0.176	0.0108942457147	.	.	2.49e-05	0	0	0	0	4.531e-05	0	0	1.94e-05	3	154602	rs776085924	8.898e-06	8.893e-06	8.173e-06	9.631e-06	1.169e-05	4.97e-06	3.83e-06	6.52e-06	5.03e-06	0	0	0	0	0	0	1.169e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.46513	T	0.089	0.41074	T	0.709	0.42056	P	0.244	0.38795	B	0.222750	0.16100	N	0.608600	1	0.08975	N	2.365	0.68172	M	0.88	0.46028	T	-2.34	0.53736	N	0.192	0.34981	-0.9594	0.39293	T	0.127	0.43442	T	10	0.24740142	0.42020	T	0.010894	0.27936	T	0.176	0.44373	0.673	0.81101	0.433600339574	0.42977	0.36735760261493217	0.36649	0.118740960914	0.13371	0.492585897446	0.37797	T	0.237886	0.60567	T	-0.295328	0.09107	T	-0.554337	0.16912	T	0.533129096031189	0.33849	D	0.90391	0.66280	D	0.089587525	0.20936	0.14138456	0.33671	0.089587525	0.20935	0.14138456	0.33670	-8.508	0.64482	D	.	.	0.186	0.61664	B	.;.	.;.	2.887314	0.38231	20.7	0.99769805422934466	0.85834	0.24986	0.22562	N	ALL	0.708529	0.66291	D	-0.323225131226334	0.28268	1.557775	-0.441221734056379	0.23799	1.299745	0.999999999999651	0.74766	0.72623	0.87236	0	0.609123	0.50646	0	0.594344	0.31042	0	0.554799	0.18163	0	.	.	4.42	1.31	0.20837	0.954000	0.28772	0.660000	0.20495	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.970000	0.54328	0.0:0.5274:0.4726:0.0	13.601	0.61488	723	0.55174	AMP-dependent synthetase/ligase;.	.	.	.	.	.	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	0.02381	763.98	45	chr15	50182846	.	C	T	763.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.05;DP=863;ExcessHet=0.0000;FS=11.496;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.78;ReadPosRankSum=-2.580e+00;SOR=1.829	GT:AD:DP:GQ:PL	0/1:58,29:87:99:778,0,1457	20	0	1	0
chr15	50301220	50301220	C	A	splicing	GABPB1	NM_005254:exon5:c.619+1G>T;NM_001320915:exon6:c.619+1G>T;NM_001320910:exon6:c.619+1G>T;NM_002041:exon5:c.619+1G>T	.	.	.	.	425	1055	39	3	0	45	0.0208817	1.0000	0.938	2817570	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.212	16.76	5.17	2.583	1.885	11.681	.	.	0.0035	0.00219649	0.0038	0.0016	0.0020	0	0	0.0044	0.0079	0.0072	0.0035058	542	154602	rs80042819	0.0035	0.0035	0.0033	0.0036	0.0115	0.0034	0.0033	0.0093	0.0084	0.0021	0.0030	0.0122	2.521e-05	0.0002	0.0115	0.0033	0.0038	0.0070	0.0029	0.0030	0.0031	0.0028	0.0046	0.0027	0.0026	0.0032	0.0030	0.0023	0.0022	0.0029	0.0072	0.0002	9.418e-05	0.0136	0.0036	0.0047	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0724187	0.61142	D	0.334834	0.89709	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.696742	0.75312	26.3	0.99276755404042938	0.57765	0.98054	0.79209	D	AEFBI	.	.	.	1.01461228058669	0.96177	14.38738	0.855504721223187	0.93334	11.97405	0.99392507945788	0.33413	0.156188	0.03335	0	0.156173	0.03658	0	0.121303	0.03266	0	0.126568	0.03934	0	0.976	0.78573	5.17	5.17	0.70848	1.906000	0.39518	4.004000	0.41101	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.9179:0.0:0.0821	11.681	0.50721	725	0.54935	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	966.98	34	chr15	50301220	.	C	A	966.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.640e-01;DP=791;ExcessHet=0.0000;FS=0.808;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.18;ReadPosRankSum=0.838;SOR=0.543	GT:AD:DP:GQ:PL	0/1:54,41:95:99:981,0,1495	20	0	1	0
chr15	50739814	50739814	G	A	exonic	SPPL2A	.	nonsynonymous SNV	SPPL2A:NM_032802:exon6:c.C599T:p.A200V,	.	.	513	1003	5	1	0	7	0.0034774	.	.	2817577	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.28	T	0.079	B	0.069	B	0.047	N	1.000	N	0	N	2.67	T	-0.984	T	0.019	T	0.137	0.282	5.526	3.58	0.663	1.876	11.182	0.022	0.00625992861723	0.0022	0.000599042	0.0032	0.0006	0.0015	0.0001	0.0038	0.0040	0.0044	0.0041	0.0028784	445	154602	rs61752332	0.0024	0.0024	0.0023	0.0024	0.0087	0.0023	0.0023	0.0068	0.0061	0.0005	0.0024	0.0045	0	0.0026	0.0087	0.0023	0.0028	0.0038	0.0024	0.0024	0.0023	0.0025	0.0032	0.0022	0.0022	0.0028	0.0027	0.0005	0.0208	0.0029	0.0035	0	0.0034	0.0102	0.0032	0.0033	0.0027	0.218	0.19090	T	0.218	0.26066	T	0.079	0.24468	B	0.069	0.27757	B	0.047456	0.23343	N	0.483083	0.999979	0.18612	N	2.135	0.59519	M	2.67	0.12473	T	-1.77	0.41809	N	0.082	0.05799	-0.9839	0.34093	T	0.019	0.07986	T	10	0.004019171	0.00078	T	0.00626	0.16435	T	0.022	0.04323	.	.	0.0297737177859	0.01360	0.309217162686016	0.30834	0.130285069413	0.14699	0.301409065723	0.10611	T	0.02323	0.17768	T	-0.584338	0.00181	T	-0.612419	0.11790	T	0.00851367935394009	0.00104	T	0.815218	0.46991	T	0.031580362	0.03023	0.0617537	0.11975	0.031580362	0.03022	0.0617537	0.11975	-4.429	0.29948	T	.	.	0.078	0.06896	B	.	.	0.689678	0.10580	7.289	0.78287100374067686	0.12235	0.41557	0.26683	N	AEFBI	0.136458	0.25713	N	-0.98155481508831	0.08998	0.4240715	-0.922587235431134	0.11562	0.5897562	0.00815038754853368	0.11619	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.46	3.58	0.40133	2.035000	0.40776	3.361000	0.37860	-0.157000	0.11712	0.253000	0.24879	0.478000	0.25088	0.236000	0.22896	0.0696:0.1286:0.8019:0.0	11.182	0.47860	330	0.86467	.	.	.	.	.	.	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	0.02381	1619.98	33	chr15	50739814	.	G	A	1619.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.303e+00;DP=770;ExcessHet=0.0000;FS=0.877;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.52;ReadPosRankSum=-1.855e+00;SOR=0.539	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,42:83:99:0|1:50739814_G_A:1634,0,1595:50739814	20	0	1	0
chr15	50739815	50739815	C	A	exonic	SPPL2A	.	nonsynonymous SNV	SPPL2A:NM_032802:exon6:c.G598T:p.A200S,	.	.	513	1003	5	1	0	7	0.0034774	.	.	2817578	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.72	T	0.002	B	0.004	B	0.047	N	1.000	N	0	N	2.76	T	-0.933	T	0.011	T	0.183	-1.108	0.135	2.53	0.256	0.710	4.312	0.004	0.00613918467546	0.0022	0.000599042	0.0032	0.0006	0.0015	0.0001	0.0038	0.0040	0.0044	0.0041	0.0028784	445	154602	rs61752331	0.0024	0.0024	0.0023	0.0024	0.0087	0.0023	0.0023	0.0068	0.0061	0.0005	0.0024	0.0046	0	0.0026	0.0087	0.0023	0.0028	0.0037	0.0024	0.0024	0.0023	0.0025	0.0032	0.0022	0.0021	0.0028	0.0027	0.0005	0.0208	0.0029	0.0035	0	0.0034	0.0102	0.0032	0.0033	0.0027	0.669	0.04575	T	0.509	0.10857	T	0.002	0.09854	B	0.004	0.10090	B	0.047456	0.23343	N	0.483083	0.999997	0.08975	N	1.1	0.28011	L	2.76	0.11515	T	-0.54	0.16598	N	0.069	0.04188	-0.9328	0.43725	T	0.011	0.04134	T	10	0.004056424	0.00079	T	0.006139	0.16082	T	0.004	0.00165	.	.	0.0401082797425	0.02173	0.18714342832602088	0.18632	0.119519482716	0.13456	0.284596323967	0.08142	T	0.012012	0.10632	T	-0.589397	0.00169	T	-0.619925	0.11191	T	0.00105230382339885	0.00010	T	0.625537	0.24174	T	0.02130124	0.00725	0.028114734	0.01019	0.02130124	0.00725	0.028114734	0.01019	-3.293	0.13647	T	.	.	0.084	0.09481	B	.	.	0.161734	0.05522	1.984	0.4393191621576073	0.03342	0.21112	0.21285	N	AEFBI	0.090943	0.18425	N	-1.05432012885473	0.07503	0.3487571	-0.995200304964114	0.09892	0.4948651	1.56637699708528E-4	0.05650	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.46	2.53	0.29594	0.782000	0.26449	0.104000	0.14688	0.578000	0.29377	0.211000	0.24435	0.012000	0.20211	0.250000	0.23263	0.1315:0.617:0.1274:0.1241	4.312	0.10416	330	0.86467	.	.	.	.	.	.	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	0.02381	1619.98	33	chr15	50739815	.	C	A	1619.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.598e+00;DP=770;ExcessHet=0.0000;FS=0.877;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.52;ReadPosRankSum=-2.036e+00;SOR=0.539	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,42:83:99:0|1:50739814_G_A:1634,0,1595:50739814	20	0	1	0
chr15	50958700	50958700	T	C	exonic	AP4E1	.	nonsynonymous SNV	AP4E1:NM_001252127:exon14:c.T1532C:p.M511T	Spastic paraplegia 51, autosomal recessive, Autosomal recessive;Stuttering, familial persistent, 1, Autosomal dominant	.	0	1519	2	1	0	4	0.00131492	.	.	842550	Spastic_paraplegia|not_provided	Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	0.101	B	0.113	B	0.079	N	0.581	N	0.55	N	2.69	T	-1.078	T	0.027	T	0.537	2.274	13.56	4.29	1.937	4.108	13.095	0.179	0.0067695119177	7.7e-05	.	0.0002	0	8.652e-05	0	0	0.0001	0.0011	0.0009	0.0001876	29	154602	rs139022614	9.988e-05	9.987e-05	8.304e-05	0.0001	0.0023	8.646e-05	8.134e-05	0.0013	0.0011	5.974e-05	4.472e-05	0.0002	0	0	0.0023	5.306e-05	0.0001	0.0006	7.226e-05	7.223e-05	7.707e-05	6.723e-05	0.0002	3.97e-05	3.127e-05	5.842e-05	4.239e-05	2.412e-05	0	6.543e-05	0	0	0	0	0.0001	0	0.0002	0.003	0.68238	D	0.018	0.59732	D	0.101	0.25775	B	0.113	0.31689	B	0.079164	0.21000	N	0.556217	0.581134	0.31098	N	0.345	0.11182	N	2.69	0.12268	T	-2.39	0.52612	N	0.477	0.52651	-1.0776	0.07821	T	0.027	0.11618	T	10	0.14933053	0.28264	T	0.00677	0.17897	T	0.179	0.44899	.	.	0.165150595986	0.16160	0.4837861768173834	0.48298	0.121364562412	0.13666	0.484153449535	0.36629	T	0.117259	0.43721	T	-0.368358	0.03678	T	-0.399304	0.33465	T	0.0766603564924927	0.09555	T	0.660434	0.26965	T	0.41818228	0.61970	0.41249058	0.65451	0.5239562	0.68487	0.3743204	0.62600	-6.567	0.51297	T	.	.	0.204	0.42906	B	.;.	.;.	3.458791	0.48198	22.6	0.97808166456287515	0.36110	0.97594	0.75777	D	AEFBI	0.289263	0.40095	N	-0.104402513134786	0.37201	2.160927	0.053900221750831	0.42262	2.553071	0.999998889386394	0.74766	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	4.29	4.29	0.50359	3.745000	0.54838	7.839000	0.70444	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	13.095	0.58601	256	0.89942	Clathrin/coatomer adaptor, adaptin-like, 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	0.02381	1897.98	33	chr15	50958700	.	T	C	1897.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.258e+00;DP=865;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=0.286;SOR=0.683	GT:AD:DP:GQ:PL	0/1:64,80:144:99:1912,0,1543	20	0	1	0
chr15	51480616	51480616	G	C	exonic	DMXL2	.	nonsynonymous SNV	DMXL2:NM_001378460:exon21:c.C4471G:p.L1491V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	1.995	M	-2.06	D	0.483	D	0.707	D	0.844	3.820	19.40	5.77	2.729	6.766	13.230	0.704	0.117777155765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.094e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.405	0.69568	M	-2.06	0.85875	D	-2.88	0.60507	D	0.74	0.79406	0.483	0.90301	D	0.707	0.89914	D	10	0.7455675	0.75263	D	0.117777	0.79764	D	0.704	0.89376	0.462	0.53079	0.79628066686	0.79438	0.5831259576205228	0.58241	0.790969623184	0.65777	0.804797291756	0.82694	D	0.413358	0.76724	T	0.355009	0.86863	D	0.27217	0.86691	D	0.983855545520782	0.75369	D	0.938406	0.78595	D	0.71831286	0.79067	0.66708344	0.80475	0.71831286	0.79069	0.66708344	0.80476	-6.497	0.50739	T	.	.	0.783	0.76515	P	.;.;.	.;.;.	4.493995	0.70227	25.5	0.99814742571298831	0.89797	0.98484	0.83265	D	AEFBI	0.820937	0.74161	D	0.826416697591381	0.87726	9.319382	0.824365288908583	0.91435	10.88461	0.9999938428267	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	6.935000	0.75699	11.904000	0.99435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0725:0.0:0.9275:0.0	13.230	0.59363	505	0.75648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3824	1772.96	148	chr15	51480616	.	G	C	1772.96	.	AC=13;AF=0.382;AN=34;BaseQRankSum=-4.061e+00;DP=2481;ExcessHet=11.8493;FS=476.218;InbreedingCoeff=-0.5815;MLEAC=15;MLEAF=0.441;MQ=60.00;MQRankSum=0.00;QD=1.03;ReadPosRankSum=0.533;SOR=13.073	GT:AD:DP:GQ:PL	0/1:82,44:126:99:130,0,1605	4	0	13	4
chr15	59058487	59058487	T	A	exonic	RNF111	.	nonsynonymous SNV	RNF111:NM_001270528:exon5:c.T1303A:p.S435T	.	.	444	1054	22	2	0	26	0.0121837	.	.	714511	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.08	T	0.152	B	0.107	B	0.001	D	0.687	D	0.695	N	2.41	T	-1.053	T	0.021	T	0.394	3.046	16.17	3.79	1.112	0.848	9.281	0.041	0.00771183391032	0.0015	0.00199681	0.0020	0.0007	0.0041	0	0	0.0025	0.0022	0.0013	0.0018823	291	154602	rs142293140	0.0016	0.0016	0.0016	0.0016	0.0241	0.0015	0.0015	0.0209	0.0196	0.0012	0.0038	0.0049	0	0	0.0241	0.0013	0.0032	0.0017	0.0016	0.0017	0.0015	0.0018	0.0044	0.0015	0.0014	0.0036	0.0033	0.0007	0.0033	0.0044	0.0040	0	0	0.0137	0.0016	0.0061	0.0017	0.004	0.68238	D	0.192	0.28860	T	0.152	0.28062	B	0.107	0.31211	B	0.000812	0.41658	D	0.285166	0.686965	0.33289	D	1.355	0.33814	L	2.41	0.15492	T	-0.35	0.29114	N	0.52	0.56317	-1.0527	0.13655	T	0.021	0.09009	T	10	0.0036854148	0.00068	T	0.007712	0.20457	T	0.041	0.10877	.	.	0.305926609036	0.30200	0.13337447934817176	0.13261	0.031808605618	0.03299	0.409914076328	0.26444	T	0.102497	0.41028	T	-0.461876	0.00957	T	-0.437703	0.29065	T	0.0246301174928638	0.01225	T	0.825917	0.49049	T	0.09783147	0.23067	0.14426728	0.34257	0.09783147	0.23067	0.14426728	0.34256	-3.812	0.21059	T	.	.	0.073	0.07272	B	.;.;.;.;.	.;.;.;.;.	2.225688	0.28409	17.79	0.98288512908733516	0.39926	0.78277	0.38595	D	AEFDBI	0.076830	0.15464	N	-0.210799409194394	0.32690	1.846336	-0.0386504913373798	0.37985	2.231625	0.996372299237139	0.34702	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.07	3.79	0.42757	1.203000	0.31890	3.459000	0.38500	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.2023:0.0:0.7977	9.281	0.36888	525	0.74024	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	872.98	34	chr15	59058487	.	T	A	872.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.250e-01;DP=752;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.47;ReadPosRankSum=0.882;SOR=0.788	GT:AD:DP:GQ:PL	0/1:34,36:70:99:887,0,826	20	0	1	0
chr15	62771123	62771123	G	A	exonic	TLN2	.	nonsynonymous SNV	TLN2:NM_015059:exon39:c.G5356A:p.G1786R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	2.52	M	2.56	T	-0.984	T	0.123	T	0.883	4.843	27.6	5.39	2.804	9.601	19.356	0.546	0.0570610229441	.	.	2.48e-05	0	0	0	0	4.506e-05	0	0	1.94e-05	3	154602	rs759518913	1.578e-05	1.847e-05	1.773e-05	1.381e-05	2.995e-05	1.051e-05	8.78e-06	1.298e-05	1.109e-05	2.995e-05	0	0	0	0	0	1.983e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.046	0.61642	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.094954	1	0.81001	D	2.545	0.74286	M	2.56	0.13673	T	-7.66	0.95842	D	0.853	0.84922	-0.9841	0.34045	T	0.123	0.42547	T	10	0.80184096	0.79575	D	0.057061	0.66831	D	.	.	0.363	0.36874	0.423328145879	0.41948	0.8706335251482362	0.87029	0.863917638796	0.69099	0.827391803265	0.86163	D	0.836261	0.96139	D	0.177413	0.71805	D	0.0807105	0.75625	D	0.999083399772644	0.96125	D	0.997023	0.98856	D	0.86893195	0.88777	0.8483145	0.91392	0.86893195	0.88778	0.8483145	0.91392	-10.807	0.78589	D	.	.	0.998	0.97573	P	.;.;.;.	.;.;.;.	5.288045	0.88783	29.7	0.99922678319917835	0.98852	0.95750	0.65995	D	ALL	0.945622	0.95413	D	0.890002161201587	0.91260	10.79495	0.835519687340598	0.92143	11.25936	1.0	0.98316	0.675385	0.55134	0	0.573888	0.26702	0	0.693117	0.63056	0	0.567892	0.33627	0	.	.	5.39	5.39	0.77615	10.003000	0.99689	11.748000	0.95342	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.625000	0.32026	0.0:0.0:1.0:0.0	19.356	0.94403	920	0.19381	Talin-1/2, rod-segment;Talin-1/2, rod-segment;Talin-1/2, rod-segment;Talin-1/2, rod-segment	.	.	.	.	.	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	0.02381	1664.98	43	chr15	62771123	.	G	A	1664.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.74;DP=911;ExcessHet=0.0000;FS=0.831;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.73;ReadPosRankSum=2.60;SOR=0.868	GT:AD:DP:GQ:PL	0/1:59,54:113:99:1679,0,1701	20	0	1	0
chr15	65624503	65624503	G	C	exonic	SLC24A1	.	nonsynonymous SNV	SLC24A1:NM_001301031:exon1:c.G423C:p.K141N	Night blindness, congenital stationary (complete), 1D, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.961	D	0.036	N	1.000	N	1.495	L	1.95	T	-0.665	T	0.376	T	0.064	2.879	15.59	2.88	0.719	0.773	6.818	0.071	0.0437088708563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0098	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0002	0.0002	0	7.768e-05	0	0	0	0.0002	8.519e-05	4.757e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.961	0.70482	D	0.036487	0.24515	N	0.289027	1	0.08975	N	1.83	0.48079	L	-0.39	0.72125	T	-1.89	0.44094	N	0.193	0.26957	-0.6646	0.62072	T	0.376	0.73370	T	10	0.14750645	0.27949	T	0.043709	0.61120	D	0.071	0.20720	0.248	0.18447	0.814655732074	0.81291	0.06411332316461787	0.06350	0.277029944497	0.30173	0.317594438791	0.13056	T	0.022452	0.58404	T	-0.167159	0.25664	T	-0.477889	0.24671	T	0.523743510246277	0.33503	D	0.830817	0.50934	T	0.14003113	0.32323	0.15122224	0.35631	0.14003113	0.32323	0.15122224	0.35630	-5.061	0.37611	T	.	.	0.386	0.58803	A	.;.;.;.;.;.	.;.;.;.;.;.	1.694742	0.21594	15.27	0.99300094975893183	0.58577	0.11248	0.16507	N	AEFBI	0.045447	0.07435	N	-0.329018778326971	0.28049	1.543991	-0.502545089104272	0.22083	1.197762	0.0106939354388256	0.12067	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.78	2.88	0.32617	1.145000	0.31189	2.573000	0.33375	-0.106000	0.15538	0.012000	0.18695	0.972000	0.29809	0.129000	0.19529	0.2157:0.0:0.7843:0.0	6.818	0.23027	605	0.67457	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	954.92	37	chr15	65624503	.	G	C	954.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-5.957e+00;DP=1530;ExcessHet=0.6776;FS=181.776;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=1.31;ReadPosRankSum=1.77;SOR=9.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:143,38:197:99:.:.:423,0,4751	17	0	4	0
chr15	73443250	73443250	C	T	exonic	REC114	.	nonsynonymous SNV	REC114:NM_001042367:exon1:c.C65T:p.P22L	.	.	.	.	.	.	.	.	.	.	.	3465203	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.979	D	0.728	P	0.030	N	0.987	D	1.7	L	0.96	T	-0.853	T	0.149	T	0.53	2.575	14.57	3.45	2.220	2.886	10.680	0.185	0.0199276144209	0.0002	0.000199681	7.637e-05	0	0	0	0	0.0002	0	0	7.12e-05	11	154602	rs371048409	9.218e-05	9.303e-05	8.915e-05	9.528e-05	0.0001	7.909e-05	7.44e-05	9.368e-05	8.766e-05	0	0.0001	0	0	0	0	0.0001	0.0001	0	5.252e-05	5.249e-05	6.423e-05	4.028e-05	8.821e-05	2.555e-05	1.829e-05	3.762e-05	2.575e-05	0	0	6.531e-05	0	0	0	0	8.821e-05	0.0005	0	0.01	0.63226	D	0.009	0.67890	D	0.979	0.59044	D	0.728	0.55195	P	0.030381	0.25314	N	0.402465	0.986563	0.40452	D	2.045	0.56016	M	0.96	0.42888	T	-5.85	0.88495	D	0.617	0.66529	-0.8530	0.51760	T	0.149	0.47593	T	10	0.488358	0.60843	T	0.019928	0.42414	T	0.185	0.45933	.	.	0.53819168318	0.53471	0.4620418235680954	0.46122	0.527645820895	0.50370	.	.	.	0.158748	0.50190	T	-0.248271	0.14311	T	-0.357732	0.38315	T	0.506255567073822	0.32859	D	0.818618	0.47570	T	0.17683075	0.38617	0.25478056	0.51149	0.17683075	0.38617	0.25478056	0.51148	-2.604	0.06534	T	.	.	0.21	0.52760	B	.;.	.;.	3.391174	0.46957	22.4	0.99853481665171173	0.93279	0.69984	0.34405	D	AEFBCI	0.173820	0.30092	N	0.301502126634863	0.56226	3.786956	0.216388840287933	0.50755	3.264366	0.00120948267392127	0.08334	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	3.45	3.45	0.38602	2.897000	0.48363	2.685000	0.34045	0.599000	0.40250	0.996000	0.39380	0.993000	0.31925	0.491000	0.28814	0.0:1.0:0.0:0.0	10.680	0.45002	593	0.68665	.;.	.	.	.	.	.	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	0.02381	972.98	38	chr15	73443250	.	C	T	972.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.66;DP=760;ExcessHet=0.0000;FS=0.958;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.52;ReadPosRankSum=-1.722e+00;SOR=0.896	GT:AD:DP:GQ:PL	0/1:29,38:67:99:987,0,530	20	0	1	0
chr15	76775051	76775051	G	A	exonic	SCAPER	.	nonsynonymous SNV	SCAPER:NM_001145923:exon9:c.C101T:p.A34V	.	.	10	1499	12	1	0	14	0.00464807	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.008	B	0.02	B	0.000	N	0.983	D	1.32	L	1.87	T	-1.096	T	0.054	T	0.192	2.434	14.10	4.84	1.429	4.250	10.985	0.032	0.00942726121963	0.0006	0.000599042	0.0004	0	0.0003	0	0	0.0006	0	0.0007	0.0004269	66	154602	rs200719909	0.0003	0.0003	0.0003	0.0003	0.0026	0.0003	0.0003	0.0016	0.0013	8.964e-05	0.0007	0.0006	0	0	0.0026	0.0003	0.0005	0.0006	0.0005	0.0005	0.0004	0.0006	0.0020	0.0004	0.0004	0.0015	0.0013	2.407e-05	0	0.0020	0.0003	0	0	0.0068	0.0006	0.0005	0.0010	0.087	0.40573	T	0.273	0.22154	T	.	.	.	.	.	.	0.000005	0.62929	N	0.106321	0.983304	0.39998	D	1.375	0.34280	L	1.87	0.26152	T	-0.7	0.51646	N	0.145	0.14622	-1.0963	0.04569	T	0.054	0.22997	T	10	0.022257	0.00551	T	0.009427	0.24716	T	0.032	0.07718	.	.	0.277317399466	0.27352	0.2372709990579786	0.23642	0.274027578364	0.29904	0.364029288292	0.19971	T	0.011786	0.15706	T	-0.461147	0.00967	T	-0.513169	0.20990	T	0.0198226465984839	0.00684	T	0.816918	0.47330	T	0.06967035	0.15284	0.078833655	0.17694	0.06967035	0.15283	0.078833655	0.17694	-3.811	0.25157	T	.	.	0.071	0.32128	B	.;.;.;.;.;.	.;.;.;.;.;.	2.448883	0.31530	18.77	0.99543358538378068	0.70648	0.95082	0.63372	D	AEFBI	0.514377	0.54178	D	-0.140527327545632	0.35639	2.049624	0.00896810147865833	0.40131	2.390098	0.980839523138988	0.30182	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	5.76	4.84	0.62125	4.365000	0.59259	5.001000	0.46597	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.750000	0.35786	0.1489:0.0:0.8511:0.0	10.985	0.46731	262	0.89730	.;.;.;.;.;.	.	.	.	.	.	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	0.02381	1187.98	34	chr15	76775051	.	G	A	1187.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.163;DP=844;ExcessHet=0.0000;FS=1.507;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.00;ReadPosRankSum=0.369;SOR=0.891	GT:AD:DP:GQ:PL	0/1:81,51:132:99:1202,0,2008	20	0	1	0
chr15	77470925	77470925	G	C	exonic	HMG20A	.	nonsynonymous SNV	HMG20A:NM_001304504:exon5:c.G466C:p.A156P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	4.01	H	-3.87	D	1.083	D	0.959	D	0.978	5.239	33	5.88	2.780	9.476	20.219	0.926	0.36457501465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.0063	0.0018	0.0016	0.0020	0.0016	0.0016	0.0019	0.0019	0.0015	7.544e-05	0.0004	0.0003	1.886e-05	0.0013	0.0020	0.0012	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.49	0.98946	H	-3.87	0.95922	D	-4.76	0.80340	D	0.951	0.95956	1.083	0.98998	D	0.959	0.98660	D	10	0.8971046	0.90150	D	0.364575	0.92596	D	0.926	0.98192	0.642	0.77903	0.968703745723	0.96836	0.8872671032323289	0.88695	1.50727079688	0.87154	0.880620002747	0.94044	D	0.900783	0.98052	D	0.576488	0.96944	D	0.590309	0.96894	D	0.999476850032806	0.97549	D	0.962604	0.86052	D	0.9461271	0.95872	0.9591841	0.98928	0.9461271	0.95872	0.9591841	0.98928	-15.627	0.97148	D	.	.	1.000	0.99585	P	.;.;.;.	.;.;.;.	6.308495	0.94988	34	0.99786623120083784	0.87308	0.99689	0.98687	D	AEFGBI	0.951203	0.96554	D	1.13537706431312	0.98738	19.20727	1.06046795470621	0.99493	23.16804	0.9999999999968	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	9.602000	0.97623	11.852000	0.98107	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.219	0.98314	0	0.99858	High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	176.52	30	chr15	77470925	.	G	C	176.52	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.775e+00;DP=955;ExcessHet=0.6776;FS=359.107;InbreedingCoeff=-0.1149;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.80;ReadPosRankSum=0.794;SOR=10.021	GT:AD:DP:GQ:PL	0/1:42,17:59:39:39,0,848	17	0	4	0
chr15	78098004	78098004	G	C	exonic	SH2D7	.	nonsynonymous SNV	SH2D7:NM_001101404:exon3:c.G342C:p.Q114H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.001	B	0.002	B	.	.	1.000	N	0.125	N	-2.43	D	-0.783	T	0.378	T	0.054	-0.697	0.982	-3.14	-1.121	-1.144	8.434	0.194	0.0445091307339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.22486	T	0.575	0.08654	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.755	0.19153	N	-2.43	0.88689	D	-0.64	0.18670	N	0.059	0.03069	-0.7834	0.56110	T	0.378	0.73557	T	9	0.0676226	0.09447	T	0.044509	0.61522	D	0.194	0.47447	0.531	0.63855	0.245660935333	0.24156	0.41108724713247813	0.41024	0.037337482246	0.03956	0.292185693979	0.09241	T	0.143363	0.47943	T	-0.197108	0.21222	T	-0.520909	0.20202	T	0.0831974883731889	0.10391	T	0.488951	0.15001	T	0.08098027	0.18584	0.054468587	0.09372	0.08098027	0.18584	0.054468587	0.09372	-3.764	0.20268	T	.	.	0.150	0.33249	B	.	.	-0.211262	0.03035	0.465	0.73002486227663199	0.10172	0.00955	0.03671	N	AEFDBI	0.044554	0.07182	N	-1.59287649773502	0.01300	0.05662846	-1.62995832367569	0.01483	0.06711233	0.99781490025954	0.36062	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.51	-3.14	0.04928	-1.327000	0.02789	-0.305000	0.10084	-0.859000	0.02647	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1105:0.2024:0.6081:0.079	8.434	0.31936	793	0.45818	SH2 domain|SH2 domain|SH2 domain|SH2D7, SH2 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	1	0	0	0	0.02381	3334.98	34	chr15	78098004	.	G	C	3334.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.410e-01;DP=1198;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.45;ReadPosRankSum=-1.313e+00;SOR=0.672	GT:AD:DP:GQ:PL	0/1:173,146:319:99:3349,0,4249	20	0	1	0
chr15	82344935	82344935	G	0	exonic	GOLGA6L10	.	.	.	.	.	531	861	98	1	31	131	0.0548847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	326.23	37	chr15	82344935	.	G	A,*	326.23	.	AC=1,5;AF=0.025,0.125;AN=40;DP=1617;ExcessHet=1.8958;FS=22.164;InbreedingCoeff=-0.0857;MLEAC=1,5;MLEAF=0.025,0.125;MQ=34.00;QD=0.61;SOR=1.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:73,0,38:111:99:0|1:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:808,1027,3710,0,2683,2556:82344920	14	0	1	1
chr15	82344942	82344942	T	0	exonic	GOLGA6L10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	976.39	35	chr15	82344942	.	T	C,*	976.39	.	AC=2,5;AF=0.125,0.313;AN=16;BaseQRankSum=2.59;DP=1794;ExcessHet=0.5718;FS=29.828;InbreedingCoeff=-0.0755;MLEAC=4,9;MLEAF=0.250,0.563;MQ=47.54;MQRankSum=-4.628e+00;QD=1.84;ReadPosRankSum=1.21;SOR=1.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:73,0,38:111:99:0|1:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:808,1027,3710,0,2683,2556:82344920	2	1	0	13
chr15	82344983	82344983	A	0	exonic	GOLGA6L10	.	.	.	.	.	756	655	109	0	2	111	0.0768147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	49.01	27	chr15	82344983	.	A	*,G	49.01	.	AC=5,1;AF=0.167,0.033;AN=30;BaseQRankSum=-9.670e-01;DP=1596;ExcessHet=0.1504;FS=28.441;InbreedingCoeff=0.0481;MLEAC=6,1;MLEAF=0.200,0.033;MQ=38.57;MQRankSum=0.118;QD=0.10;ReadPosRankSum=-5.820e-01;SOR=1.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,38,0:111:99:0|1:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:808,0,2556,1027,2683,3710:82344920	10	0	4	6
chr15	82344984	82344984	C	0	exonic	GOLGA6L10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	48.58	9	chr15	82344984	.	C	*,T	48.58	.	AC=6,1;AF=0.188,0.031;AN=32;BaseQRankSum=-9.670e-01;DP=1652;ExcessHet=0.3087;FS=24.087;InbreedingCoeff=-0.0422;MLEAC=7,1;MLEAF=0.219,0.031;MQ=46.42;MQRankSum=0.118;QD=0.08;ReadPosRankSum=-4.680e-01;SOR=1.473	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,38,0:111:99:0|1:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:808,0,2556,1027,2683,3710:82344920	10	0	5	5
chr15	82345004	82345046	ATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG	0	exonic	GOLGA6L10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	718.55	4	chr15	82345004	.	ATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG	*,A,GTAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG	718.55	.	AC=4,1,1;AF=0.200,0.050,0.050;AN=20;BaseQRankSum=1.91;DP=1733;ExcessHet=2.6804;FS=27.756;InbreedingCoeff=-0.1646;MLEAC=7,2,2;MLEAF=0.350,0.100,0.100;MQ=47.51;MQRankSum=-6.640e+00;QD=1.18;ReadPosRankSum=-1.278e+00;SOR=1.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,38,0,0:111:99:0|1:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:808,0,2556,1027,2683,3710,1027,2683,3710,3710:82344920	4	0	4	11
chr15	82345005	82345005	T	0	exonic	GOLGA6L10	.	.	.	.	.	50	129	12	1	34	48	0.0514706	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2308	40.9	8	chr15	82345005	.	T	C,*	40.9	.	AC=1,5;AF=0.038,0.192;AN=26;BaseQRankSum=0.967;DP=1706;ExcessHet=2.4752;FS=28.441;InbreedingCoeff=-0.0786;MLEAC=1,7;MLEAF=0.038,0.269;MQ=32.71;MQRankSum=0.00;QD=0.07;ReadPosRankSum=-9.670e-01;SOR=1.557	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:73,0,38:111:99:0|1:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:808,1027,3710,0,2683,2556:82344920	7	0	1	8
chr15	82345025	82345025	G	0	exonic	GOLGA6L10	.	.	.	.	.	642	820	47	0	13	60	0.0278601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	307.4	24	chr15	82345025	.	G	A,*	307.4	.	AC=1,5;AF=0.026,0.132;AN=38;DP=1749;ExcessHet=2.0135;FS=30.096;InbreedingCoeff=-0.1941;MLEAC=1,5;MLEAF=0.026,0.132;MQ=37.25;QD=0.49;SOR=1.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:73,0,38:111:99:0|1:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:808,1027,3710,0,2683,2556:82344920	13	0	1	2
chr15	82345026	82345110	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	0	exonic	GOLGA6L10	.	.	.	.	.	637	825	3	0	57	60	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	1003.57	118	chr15	82345026	.	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	*,T	1003.57	.	AC=6,3;AF=0.158,0.079;AN=38;BaseQRankSum=1.42;DP=2239;ExcessHet=1.1637;FS=1.330;InbreedingCoeff=-0.0364;MLEAC=6,3;MLEAF=0.158,0.079;MQ=40.84;MQRankSum=0.975;QD=1.08;ReadPosRankSum=-1.194e+00;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,49,10:178:99:1|0:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:1033,0,3564,1367,3683,9072:82344920	11	0	5	2
chr15	82345027	82345110	AGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	-	exonic	GOLGA6L10	.	nonframeshift deletion	GOLGA6L10:NM_001164465:exon6:c.750_833del:p.R286_L313del	.	.	637	825	3	0	57	60	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0017	0.0007	0.0007	0.0028	0.0007	0.0006	0.0020	0.0017	0.0007	0.0010	0.0026	0.0028	0.0016	0.0008	0.0006	0.0014	0.0005	0.0006	0.0016	0.0005	0.0007	0.0028	0.0004	0.0004	0.0011	0.0007	0.0005	0	0.0003	0.0005	0	0.0017	0	0.0004	0.0010	0.0028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	1003.57	118	chr15	82345026	.	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	*,T	1003.57	.	AC=6,3;AF=0.158,0.079;AN=38;BaseQRankSum=1.42;DP=2239;ExcessHet=1.1637;FS=1.330;InbreedingCoeff=-0.0364;MLEAC=6,3;MLEAF=0.158,0.079;MQ=40.84;MQRankSum=0.975;QD=1.08;ReadPosRankSum=-1.194e+00;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,49,10:178:99:1|0:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:1033,0,3564,1367,3683,9072:82344920	11	0	5	2
chr15	82345087	82345087	C	0	exonic	GOLGA6L10	.	.	.	.	.	748	741	8	0	25	33	0.00536913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	1995.03	118	chr15	82345087	.	C	T,*	1995.03	.	AC=3,4;AF=0.083,0.111;AN=36;BaseQRankSum=0.682;DP=2432;ExcessHet=2.7391;FS=0.630;InbreedingCoeff=-0.2500;MLEAC=3,4;MLEAF=0.083,0.111;MQ=38.42;MQRankSum=-1.259e+00;QD=2.52;ReadPosRankSum=-2.066e+00;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,41,10:170:99:0|1:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:753,0,3619,977,3595,7129:82344920	11	0	3	3
chr15	84239998	84239998	-	ACGTGAACAGGAGGAGAGGCA	exonic	GOLGA6L4	.	nonframeshift insertion	GOLGA6L4:NM_001267536:exon6:c.644_645insACGTGAACAGGAGGAGAGGCA:p.E219_D220insERQREQE,	.	.	985	495	13	25	4	67	0.0598291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	.	0	1.29e-05	2	154602	rs779561802	0.0105	0.0058	0.0101	0.0109	0.2682	0.0102	0.0101	0.2596	0.2561	0.0231	0.0037	0.0223	0.2682	0.0079	0.0042	0.0006	0.0141	0.0199	0.0008	0.0050	0.0003	0.0013	0.0208	0.0004	0.0003	0.0027	0.0017	0.0068	0	0	0	0	0	0	0.0001	0.0143	0.0208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	3522.01	6	chr15	84239998	.	T	A,TACGTGAACAGGAGGAGAGGCA	3522.01	.	AC=6,3;AF=0.250,0.125;AN=24;BaseQRankSum=-1.282e+00;DP=208;ExcessHet=0.0000;FS=1.808;InbreedingCoeff=0.6093;MLEAC=9,5;MLEAF=0.375,0.208;MQ=41.82;MQRankSum=2.07;QD=30.81;ReadPosRankSum=0.425;SOR=0.357	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,44,0:44:99:.:.:1264,131,0,1264,131,1264	7	2	1	9
chr15	84240189	84240189	C	T	exonic	GOLGA6L4	.	nonsynonymous SNV	GOLGA6L4:NM_001267536:exon6:c.C835T:p.R279C,	.	.	753	753	16	0	0	16	0.0105125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	.	.	.	.	.	.	0.994	N	.	.	2.4	T	-1.009	T	0.036	T	0.204	0.413	6.242	0.762	0.748	-0.343	4.972	0.024	0.000722496831276	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1171360296	0.0010	0.0077	0.0011	0.0009	0.0021	0.0009	0.0009	0.0012	0.0011	0.0002	0.0003	0.0006	0.0003	0.0008	0.0021	0.0013	0.0014	0.0002	0.0002	0.0006	0.0002	0.0003	0.0004	0.0002	0.0001	0.0001	0.0001	0.0001	0	0.0004	0.0004	0	0.0007	0	0.0002	0.0006	0	0.1	0.30515	T	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.23639	N	.	.	.	2.4	0.15608	T	-2.26	0.50502	N	0.099	0.08088	-1.0086	0.27354	T	0.036	0.15334	T	6	0.15234295	0.28778	T	7.22E-4	0.00472	T	0.024	0.04979	0.426	0.47185	0.0716867268079	0.06686	0.02407774487081985	0.02358	2.36362769044	0.96864	.	.	.	0.079796	0.36213	T	-0.314989	0.07317	T	-0.690236	0.06375	T	0.0766820126804913	0.09557	T	0.456254	0.13085	T	0.057518452	0.11456	0.05492262	0.09536	0.057518452	0.11456	0.05492262	0.09536	-3.926	0.22693	T	.	.	0.170	0.37445	B	.	.	1.326514	0.17311	13.09	0.57909294928781596	0.05873	0.00472	0.02260	N	AEFI	0.035008	0.04434	N	-0.663721429905769	0.17061	0.8747681	-0.894485716978703	0.12224	0.6275393	6.87443934965625E-6	0.01202	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	0.762	0.762	0.17600	-6.096000	0.00099	-10.050000	0.00745	-1.170000	0.01400	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	4.972	0.13469	778	0.48011	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.125	792.36	32	chr15	84240189	.	C	T	792.36	.	AC=5;AF=0.125;AN=40;BaseQRankSum=0.769;DP=806;ExcessHet=1.1607;FS=14.484;InbreedingCoeff=-0.1535;MLEAC=5;MLEAF=0.125;MQ=35.38;MQRankSum=-2.890e-01;QD=4.48;ReadPosRankSum=0.367;SOR=1.471	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,6:48:99:0|1:84240169_A_G:118,0,1665:84240169	15	0	5	1
chr15	84512452	84512452	C	0	exonic	GOLGA6L4	.	.	.	.	.	671	744	60	0	47	107	0.0387597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	4524.06	139	chr15	84512452	.	C	T,*	4524.06	.	AC=5,8;AF=0.119,0.190;AN=42;BaseQRankSum=-4.670e-01;DP=3555;ExcessHet=11.8493;FS=1.281;InbreedingCoeff=-0.4584;MLEAC=5,8;MLEAF=0.119,0.190;MQ=45.57;MQRankSum=1.25;QD=1.92;ReadPosRankSum=0.576;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:198,120,0:318:99:0|1:84512452_C_T:1503,0,5734,2093,6024,8117:84512452	8	0	5	0
chr15	85580602	85580602	T	G	exonic	AKAP13	.	nonsynonymous SNV	AKAP13:NM_006738:exon7:c.T2534G:p.V845G	.	.	432	110	446	510	24	1490	0.869514	.	.	2814437	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.45	T	0.0	B	0.002	B	.	.	1.000	P	0.345	N	2.55	T	-0.957	T	0.017	T	0.404	1.720	11.71	0.070	-0.113	-1.248	6.569	0.179	0.00506693407359	.	0.000599042	0.0032	0.0007	0.0032	0	0.0002	0.0039	0.0088	0.0048	0.0001153	3	26028	rs4075256	0.0025	0.0025	0.0024	0.0027	0.0151	0.0025	0.0024	0.0125	0.0116	0.0004	0.0025	0.0292	2.519e-05	0.0001	0.0151	0.0018	0.0045	0.0047	0.0023	0.0023	0.0022	0.0024	0.0048	0.0021	0.0020	0.0033	0.0028	0.0003	0	0.0016	0.0297	0	9.45e-05	0.0171	0.0025	0.0038	0.0048	0.423	0.10659	T	0.027	0.63918	D	0.0	0.02946	B	0.001	0.06944	B	.	.	.	.	1	0.08975	P	1.245	0.31408	L	2.55	0.13795	T	-1.02	0.26843	N	0.078	0.06720	-0.9574	0.39662	T	0.017	0.06998	T	8	0.0039428473	0.00076	T	0.005067	0.12846	T	0.179	0.44899	.	.	0.422182357427	0.41838	0.1432355315383818	0.14246	0.0440664064185	0.04745	0.228416800499	0.01853	T	0.010925	0.27888	T	-0.552168	0.00283	T	-0.564974	0.15912	T	0.00203509816072437	0.00021	T	0.324768	0.06643	T	0.1311308	0.30576	0.06462619	0.12981	0.1311308	0.30576	0.06462619	0.12981	-3.647	0.18539	T	.	.	0.065	0.06069	B	.;.;.	.;.;.	0.426331	0.07970	4.681	0.95987591324156307	0.28377	0.04720	0.10414	N	AEFDBHCI	.	.	.	-1.3770577569871	0.02854	0.1266311	-1.35682337870166	0.03726	0.1743996	0.999998904741782	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.65145	0.50148	0	0.678554	0.66404	0	.	.	5.68	0.070	0.13688	-1.139000	0.03324	-0.569000	0.08436	-0.832000	0.02862	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4775:0.1299:0.3926	6.569	0.21723	714	0.56256	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.7619	59865.85	115	chr15	85580602	.	T	C,G	59865.85	.	AC=32,1;AF=0.762,0.024;AN=42;BaseQRankSum=1.83;DP=2553;ExcessHet=4.7172;FS=0.631;InbreedingCoeff=-0.2727;MLEAC=32,1;MLEAF=0.762,0.024;MQ=60.00;MQRankSum=0.00;QD=23.83;ReadPosRankSum=0.419;SOR=0.578	GT:AD:DP:GQ:PL	0/1:46,84,0:130:99:2255,0,1160,2393,1412,3805	0	11	9	0
chr15	86262867	86262867	G	A	exonic	AGBL1	.	nonsynonymous SNV	AGBL1:NM_152336:exon10:c.G1059A:p.M353I,	Corneal dystrophy, Fuchs endothelial, 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.617	P	0.242	B	0.000	D	0.642	N	2.135	M	2.92	T	-0.748	T	0.127	T	0.34	1.463	10.84	5.5	2.578	2.277	13.378	0.096	0.0201173805675	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866857305	6.876e-07	2.053e-06	1.367e-06	0	2.999e-05	0	0	.	.	2.999e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.483	0.36807	P	0.057	0.26280	B	0.000431	0.44522	D	0.244651	0.641972	0.30608	N	2.34	0.67151	M	.	.	.	.	.	.	.	.	-0.7477	0.58055	T	0.127	0.43462	T	10	0.3451473	0.51494	T	0.020117	0.42647	T	0.096	0.27654	0.336	0.32491	0.345859378078	0.34197	0.1783097779329804	0.17749	0.010741408872	0.00990	0.362168550491	0.19702	T	0.029575	0.21161	T	-0.135658	0.30584	T	-0.43264	0.29636	T	0.74590927362442	0.43058	D	0.844715	0.52235	T	0.30360717	0.53226	0.42711985	0.66467	0.30360717	0.53227	0.42711985	0.66467	.	.	.	.	.	0.54	0.74232	A	.;.	.;.	2.826069	0.37245	20.4	0.99212663506296006	0.55655	0.91102	0.52864	D	AEFI	0.434504	0.49552	N	0.112744732671943	0.47055	2.936776	0.169067475961984	0.48160	3.035824	0.728346301735861	0.23014	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.5	5.5	0.81386	2.324000	0.43491	6.634000	0.56161	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.053000	0.15439	0.0:0.0:0.8429:0.1571	13.378	0.60194	509	0.75304	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	224.91	90	chr15	86262867	.	G	A	224.91	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-3.793e+00;DP=1376;ExcessHet=0.6776;FS=121.756;InbreedingCoeff=-0.1052;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.46;ReadPosRankSum=0.486;SOR=9.308	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:115,28:143:54:.:.:54,0,2388	17	0	4	0
chr15	89333605	89333605	-	TGC	exonic	POLG	.	nonframeshift insertion	POLG:NM_001126131:exon2:c.149_150insGCA:p.Q55_P56insQ	Mitochondrial DNA depletion syndrome 4A (Alpers type), Autosomal recessive;Mitochondrial DNA depletion syndrome 4B (MNGIE type), Autosomal recessive;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), Autosomal recessive;Progressive external ophthalmoplegia, autosomal dominant 1, Autosomal dominant;Progressive external ophthalmoplegia, autosomal recessive 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	16448.55	79	chr15	89333596	.	TTGCTGCTGC	TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC	16448.55	.	AC=11,1,2;AF=0.262,0.024,0.048;AN=42;BaseQRankSum=0.208;DP=1777;ExcessHet=6.1794;FS=1.163;InbreedingCoeff=-0.2857;MLEAC=11,1,2;MLEAF=0.262,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=18.34;ReadPosRankSum=0.585;SOR=0.826	GT:AD:DP:GQ:PL	0/1:32,42,0,0:76:99:1454,0,1041,1617,1209,3013,1617,1209,3013,3013	8	0	10	0
chr15	89333597	89333605	TGCTGCTGC	-	exonic	POLG	.	nonframeshift deletion	POLG:NM_001126131:exon2:c.150_158del:p.Q53_Q55del	Mitochondrial DNA depletion syndrome 4A (Alpers type), Autosomal recessive;Mitochondrial DNA depletion syndrome 4B (MNGIE type), Autosomal recessive;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), Autosomal recessive;Progressive external ophthalmoplegia, autosomal dominant 1, Autosomal dominant;Progressive external ophthalmoplegia, autosomal recessive 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	203057	Inborn_genetic_diseases|not_specified|Hereditary_spastic_paraplegia|POLG-related_disorder|Progressive_sclerosing_poliodystrophy|not_provided|Mitochondrial_DNA_depletion_syndrome_4b|Sensory_ataxic_neuropathy,_dysarthria,_and_ophthalmoparesis|Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_dominant_1|Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_1|Mitochondrial_DNA_depletion_syndrome_1	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MedGen:CN180166|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:726|MedGen:C3661900|MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662,Orphanet:298|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459,Orphanet:70595|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450,Orphanet:254886|MONDO:MONDO:0011283,MedGen:C4551995,OMIM:603041,Orphanet:298	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0022	0.0012	0.0025	0.0006	0.0027	0.0018	0.0033	0.0014683	227	154602	rs756833779	0.0024	0.0024	0.0024	0.0024	0.0035	0.0024	0.0023	0.0026	0.0025	0.0014	0.0014	7.735e-05	0.0020	0.0003	0.0035	0.0026	0.0027	0.0024	0.0021	0.0021	0.0021	0.0021	0.0031	0.0019	0.0019	0.0024	0.0023	0.0015	0	0.0022	0.0003	0.0031	0.0002	0.0034	0.0027	0.0024	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	16448.55	79	chr15	89333596	.	TTGCTGCTGC	TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC	16448.55	.	AC=11,1,2;AF=0.262,0.024,0.048;AN=42;BaseQRankSum=0.208;DP=1777;ExcessHet=6.1794;FS=1.163;InbreedingCoeff=-0.2857;MLEAC=11,1,2;MLEAF=0.262,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=18.34;ReadPosRankSum=0.585;SOR=0.826	GT:AD:DP:GQ:PL	0/1:32,42,0,0:76:99:1454,0,1041,1617,1209,3013,1617,1209,3013,3013	8	0	10	0
chr15	89333605	89333605	-	TGCTGC	exonic	POLG	.	nonframeshift insertion	POLG:NM_001126131:exon2:c.149_150insGCAGCA:p.Q55_P56insQQ	Mitochondrial DNA depletion syndrome 4A (Alpers type), Autosomal recessive;Mitochondrial DNA depletion syndrome 4B (MNGIE type), Autosomal recessive;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), Autosomal recessive;Progressive external ophthalmoplegia, autosomal dominant 1, Autosomal dominant;Progressive external ophthalmoplegia, autosomal recessive 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	16448.55	79	chr15	89333596	.	TTGCTGCTGC	TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC	16448.55	.	AC=11,1,2;AF=0.262,0.024,0.048;AN=42;BaseQRankSum=0.208;DP=1777;ExcessHet=6.1794;FS=1.163;InbreedingCoeff=-0.2857;MLEAC=11,1,2;MLEAF=0.262,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=18.34;ReadPosRankSum=0.585;SOR=0.826	GT:AD:DP:GQ:PL	0/1:32,42,0,0:76:99:1454,0,1041,1617,1209,3013,1617,1209,3013,3013	8	0	10	0
chr15	89776903	89776915	AGGGCAGGGGCAG	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	.	68	42	561	596	255	2008	0.954273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	31349.59	49	chr15	89776903	.	AGGGCAGGGGCAG	*,A	31349.59	.	AC=14,28;AF=0.333,0.667;AN=42;BaseQRankSum=0.794;DP=1383;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=14,28;MLEAF=0.333,0.667;MQ=60.00;MQRankSum=0.00;QD=27.92;ReadPosRankSum=0.595;SOR=0.828	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,63:63:99:1|1:89776888_G_A:2722,2722,2722,190,190,0:89776888	0	0	0	0
chr15	92630239	92630239	A	G	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.T451C:p.S151P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.984	D	0.000	D	1.000	D	1.995	M	0.84	T	-0.695	T	0.243	T	0.568	4.099	21.1	2.88	0.285	3.312	11.273	0.189	0.0370127425349	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.232e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.01	0.65728	D	0.999	0.77913	D	0.984	0.76113	D	0.000002	0.62929	D	0.000000	0.971522	0.81001	D	2.25	0.63811	M	0.84	0.47477	T	-3.52	0.68412	D	0.836	0.83167	-0.6952	0.60666	T	0.243	0.61142	T	10	0.6516975	0.69640	D	0.037013	0.57355	D	0.189	0.46613	0.326	0.30873	0.203808441222	0.19973	0.4683697378432957	0.46755	1.28596125054	0.82662	0.607195258141	0.53919	T	0.103651	0.41249	T	-0.0193351	0.48948	T	-0.26555	0.48267	T	0.985782146453857	0.76677	D	0.772023	0.40277	T	0.5808712	0.71656	0.694429	0.82011	0.5808712	0.71657	0.694429	0.82012	-11.545	0.82564	D	.	.	0.913	0.83689	P	.	.	3.664272	0.52068	23.2	0.99805816475953246	0.88995	0.70514	0.34622	D	AEFGBHCI	0.303491	0.41145	N	0.415262786789674	0.62260	4.439111	0.350009233512953	0.58506	4.021693	0.9999999986463	0.74766	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.38	2.88	0.32617	3.565000	0.53543	0.612000	0.20040	0.691000	0.84096	1.000000	0.71638	0.004000	0.18990	0.976000	0.56436	0.5445:0.4555:0.0:0.0	11.273	0.48384	957	0.09725	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.03846	122.96	89	chr15	92630239	.	A	G	122.96	.	AC=1;AF=0.038;AN=26;BaseQRankSum=-2.761e+00;DP=1920;ExcessHet=0.0000;FS=301.224;InbreedingCoeff=-0.1484;MLEAC=2;MLEAF=0.077;MQ=60.00;MQRankSum=0.00;QD=1.12;ReadPosRankSum=-1.802e+00;SOR=7.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,18:110:99:0|1:92630239_A_G:133,0,3313:92630239	12	0	1	8
chr15	92630242	92630242	C	G	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.G448C:p.D150H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.966	D	0.000	D	1.000	D	2.305	M	-0.29	T	-0.147	T	0.392	T	0.666	2.912	15.70	5.31	2.489	6.837	17.723	0.311	0.073062026662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0016	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0	3.865e-05	0	0	0.0002	0.0002	8.467e-05	9.359e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	0.999	0.77913	D	0.966	0.71341	D	0.000026	0.55875	D	0.067157	0.873479	0.54805	D	2.415	0.69758	M	-0.29	0.67712	T	-6.37	0.91058	D	0.842	0.83781	-0.1468	0.78995	T	0.392	0.74554	T	10	0.8345976	0.82617	D	0.073062	0.71693	D	0.547	0.81193	0.638	0.77470	0.411401001288	0.40751	0.7881159167461645	0.78763	1.26599244295	0.82158	0.709424495697	0.68509	T	0.284843	0.65763	T	0.152206	0.69474	D	-0.0191427	0.69085	D	0.991113245487213	0.81371	D	0.873813	0.58316	D	0.7585243	0.81366	0.70495456	0.82608	0.7585243	0.81367	0.70495456	0.82609	-14.968	0.95777	D	.	.	0.987	0.92764	P	.	.	5.202349	0.87272	29.2	0.94001699280494422	0.24097	0.88850	0.48980	D	AEFGBHCI	0.899320	0.84358	D	0.493323972852971	0.66696	4.983993	0.544622876438528	0.71025	5.592279	1.0	0.98316	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.31	5.31	0.75063	7.180000	0.77215	7.433000	0.58809	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:1.0:0.0:0.0	17.723	0.88265	957	0.09725	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2	169.72	89	chr15	92630242	.	C	G	169.72	.	AC=2;AF=0.200;AN=10;BaseQRankSum=-1.250e+00;DP=1430;ExcessHet=0.1072;FS=150.388;InbreedingCoeff=-0.3155;MLEAC=5;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=0.79;ReadPosRankSum=-1.849e+00;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,18:112:99:0|1:92630239_A_G:128,0,3351:92630239	3	0	2	16
chr15	92630243	92630243	C	G	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.G447C:p.E149D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.905	P	0.642	P	0.000	D	0.878	N	1.175	L	1.32	T	-0.949	T	0.094	T	0.151	1.600	11.31	-3.77	-0.468	0.094	12.886	0.082	0.00647740870007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.931e-06	0.0002	2.735e-06	1.518e-05	1.085e-05	4.98e-06	3.84e-06	5.78e-06	4.57e-06	0	0	0	0	0	0	1.085e-05	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.14064	T	0.202	0.27414	T	0.905	0.49920	P	0.642	0.52168	P	0.000043	0.53742	D	0.070627	0.877532	0.28105	N	1.29	0.32370	L	1.32	0.35219	T	-1.78	0.42001	N	0.393	0.43417	-0.9486	0.41211	T	0.094	0.35631	T	10	0.22394639	0.39186	T	0.006477	0.17072	T	0.082	0.23913	0.268	0.21576	0.0138822411134	0.00435	0.271622458937736	0.27075	1.10128899491	0.77738	0.574964404106	0.49377	T	0.036879	0.24268	T	-0.214669	0.18726	T	-0.546133	0.17699	T	0.845151245594025	0.49752	D	0.824917	0.48720	T	0.10445555	0.24694	0.09527147	0.22589	0.10445555	0.24694	0.09527147	0.22588	-7.313	0.56288	T	.	.	0.225	0.45665	B	.	.	2.210674	0.28203	17.72	0.74021373359626774	0.10541	0.42009	0.26783	N	AEFGBHCI	0.099426	0.20014	N	-0.41939284014467	0.24789	1.341029	-0.432723637638818	0.24043	1.31443	0.999999998690202	0.74766	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.38	-3.77	0.04062	0.178000	0.16634	-0.583000	0.08366	-0.257000	0.07002	0.993000	0.37899	0.025000	0.21018	0.980000	0.58198	0.0:0.31:0.0:0.69	12.886	0.57433	957	0.09725	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2	169.65	89	chr15	92630243	.	C	G	169.65	.	AC=2;AF=0.200;AN=10;BaseQRankSum=-1.021e+00;DP=1432;ExcessHet=0.1072;FS=158.605;InbreedingCoeff=-0.3155;MLEAC=5;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=0.79;ReadPosRankSum=-1.258e+00;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,18:112:99:0|1:92630239_A_G:128,0,3351:92630239	3	0	2	16
chr15	99712514	99712519	CAGCAG	-	exonic	MEF2A	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1033_1038del:p.Q351_Q352del	.	.	0	60	66	37	63	203	0.538462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	25897.93	76	chr15	99712504	.	CCAGCAGCAGCAGCAG	CCAGCAGCAG,C,CCAGCAGCAGCAG	25897.93	.	AC=12,1,3;AF=0.286,0.024,0.071;AN=42;BaseQRankSum=-6.810e-01;DP=1837;ExcessHet=1.5101;FS=3.269;InbreedingCoeff=-0.0096;MLEAC=12,1,3;MLEAF=0.286,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=22.78;ReadPosRankSum=0.134;SOR=0.795	GT:AD:DP:GQ:PL	0/1:47,50,0,0:97:99:1932,0,1819,2073,1971,4045,2073,1971,4045,4045	8	2	8	0
chr15	99712505	99712519	CAGCAGCAGCAGCAG	-	exonic	MEF2A	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1024_1038del:p.Q348_Q352del	.	.	0	60	66	37	63	203	0.538462	.	.	3207195	MEF2A-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0051	.	0.0163	0.0020	0.0084	0	0.0006	0.0040	0.0093	0.0378	0.0001537	4	26028	rs748617871	0.0057	0.0054	0.0048	0.0066	0.0328	0.0056	0.0056	0.0318	0.0313	0.0011	0.0209	0.0009	0.0019	0.0015	0.0269	0.0036	0.0059	0.0328	0.0056	0.0056	0.0050	0.0061	0.0227	0.0052	0.0051	0.0192	0.0179	0.0014	0	0.0195	0.0003	0.0010	0.0019	0.0510	0.0048	0.0072	0.0227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	25897.93	76	chr15	99712504	.	CCAGCAGCAGCAGCAG	CCAGCAGCAG,C,CCAGCAGCAGCAG	25897.93	.	AC=12,1,3;AF=0.286,0.024,0.071;AN=42;BaseQRankSum=-6.810e-01;DP=1837;ExcessHet=1.5101;FS=3.269;InbreedingCoeff=-0.0096;MLEAC=12,1,3;MLEAF=0.286,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=22.78;ReadPosRankSum=0.134;SOR=0.795	GT:AD:DP:GQ:PL	0/1:47,50,0,0:97:99:1932,0,1819,2073,1971,4045,2073,1971,4045,4045	8	2	8	0
chr15	99712517	99712519	CAG	-	exonic	MEF2A	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1036_1038del:p.Q352del	.	.	0	60	66	37	63	203	0.538462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	25897.93	76	chr15	99712504	.	CCAGCAGCAGCAGCAG	CCAGCAGCAG,C,CCAGCAGCAGCAG	25897.93	.	AC=12,1,3;AF=0.286,0.024,0.071;AN=42;BaseQRankSum=-6.810e-01;DP=1837;ExcessHet=1.5101;FS=3.269;InbreedingCoeff=-0.0096;MLEAC=12,1,3;MLEAF=0.286,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=22.78;ReadPosRankSum=0.134;SOR=0.795	GT:AD:DP:GQ:PL	0/1:47,50,0,0:97:99:1932,0,1819,2073,1971,4045,2073,1971,4045,4045	8	2	8	0
chr16	286854	286854	C	G	exonic	PDIA2	.	nonsynonymous SNV	PDIA2:NM_006849:exon10:c.C1442G:p.T481S,	.	.	421	1072	29	0	0	29	0.0133456	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.001	B	0.012	B	0.645	N	0.998	N	-0.62	N	4.01	T	-0.941	T	0.004	T	0.191	1.702	11.65	4.07	2.124	0.633	9.243	0.077	.	0.0037	0.00259585	0.0049	0.0014	0.0019	0	0.0012	0.0050	0.0041	0.0117	0.0039909	617	154602	rs138762531	0.0045	0.0045	0.0042	0.0048	0.0119	0.0044	0.0044	0.0113	0.0110	0.0005	0.0021	0.0328	5.047e-05	0.0005	0.0098	0.0037	0.0066	0.0119	0.0034	0.0034	0.0034	0.0033	0.0104	0.0031	0.0030	0.0081	0.0073	0.0010	0	0.0029	0.0317	0	0.0004	0.0034	0.0039	0.0009	0.0104	0.065	0.36709	T	0.277	0.21880	T	0.001	0.07471	B	0.012	0.16012	B	0.645418	0.10561	N	0.833225	0.997602	0.22589	N	-0.43	0.02865	N	4.01	0.03208	T	0.46	0.03579	N	0.089	0.07262	-0.9412	0.42426	T	0.004	0.01435	T	10	0.012854755	0.00275	T	.	.	.	0.077	0.22490	0.392	0.41606	0.383089235449	0.37922	0.30959217549652085	0.30872	.	.	0.267616271973	0.05832	T	0.004476	0.03877	T	-0.612764	0.00122	T	-0.643575	0.09410	T	0.00817482855713373	0.00098	T	0.393561	0.10202	T	0.063889235	0.13500	0.052219626	0.08561	0.063889235	0.13500	0.052219626	0.08560	-4.246	0.27412	T	.	.	0.076	0.15430	B	.;.;.	.;.;.	1.229472	0.16240	12.41	0.97714210444784844	0.35513	0.50369	0.28647	D	AEFDBCI	0.463876	0.51261	N	-0.661108224377643	0.17138	0.8792915	-0.520260123846162	0.21604	1.169461	0.48884570900195	0.20846	0.646311	0.45356	0	0.514364	0.08380	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.07	4.07	0.46726	0.598000	0.23774	0.416000	0.18166	-0.188000	0.09543	0.000000	0.06391	0.000000	0.08366	0.218000	0.22407	0.3435:0.6565:0.0:0.0	9.243	0.36672	763	0.50172	Thioredoxin domain|Thioredoxin domain;.;Thioredoxin domain|Thioredoxin 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	0.02381	821.98	40	chr16	286854	.	C	G	821.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.917;DP=914;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=0.884;SOR=0.830	GT:AD:DP:GQ:PL	0/1:35,29:64:99:836,0,1019	20	0	1	0
chr16	633822	633822	A	G	exonic	WFIKKN1	.	nonsynonymous SNV	WFIKKN1:NM_053284:exon2:c.A1412G:p.K471R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.001	B	0.003	B	0.045	N	0.951	N	0.44	N	1.66	T	-1.033	T	0.037	T	0.069	1.434	10.73	0.662	0.089	2.699	8.137	0.038	0.00258849113691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	0.10838	T	0.576	0.08624	T	0.001	0.07471	B	0.003	0.08700	B	0.044853	0.23596	N	0.433172	0.951009	0.26486	N	0.065	0.08236	N	1.66	0.27486	T	-0.41	0.14000	N	0.076	0.05037	-1.0334	0.19363	T	0.037	0.16160	T	10	0.09118718	0.15952	T	0.002588	0.05235	T	0.038	0.09825	0.444	0.50139	0.348324211639	0.34438	0.522384623725625	0.52161	0.0984549818556	0.11127	0.401542574167	0.25283	T	0.030082	0.21407	T	-0.302841	0.08394	T	-0.672787	0.07431	T	0.104878008365631	0.12885	T	0.827217	0.49094	T	0.03558321	0.04215	0.036836553	0.03211	0.03558321	0.04214	0.036836553	0.03211	-1.897	0.02815	T	.	.	0.066	0.02145	B	.	.	1.810692	0.23013	15.85	0.95401864797051139	0.26855	0.68863	0.33964	D	AEFBCI	0.121195	0.23574	N	-0.496845670284444	0.22184	1.182746	-0.344541282164574	0.26679	1.475157	0.999993831980048	0.74766	0.634777	0.41761	0	0.379588	0.06130	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.31	0.662	0.17049	2.242000	0.42756	3.705000	0.39538	0.738000	0.86027	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.6805:0.0:0.3195:0.0	8.137	0.30219	649	0.63102	Netrin 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	1	0	0	0	0.02381	1305.98	39	chr16	633822	.	A	G	1305.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.043e+00;DP=886;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=-2.586e+00;SOR=0.709	GT:AD:DP:GQ:PL	0/1:70,54:124:99:1320,0,1880	20	0	1	0
chr16	1432705	1432707	GAG	-	exonic	PERCC1	.	nonframeshift deletion	PERCC1:NM_001365310:exon2:c.112_114del:p.E47del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	3063.65	15	chr16	1432701	.	AGAGGAG	AGAG,A,AGAGGAGGAG	3063.65	.	AC=9,1,1;AF=0.214,0.024,0.024;AN=42;BaseQRankSum=-1.580e-01;DP=320;ExcessHet=0.4237;FS=0.000;InbreedingCoeff=0.1368;MLEAC=9,1,1;MLEAF=0.214,0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=24.51;ReadPosRankSum=-6.010e-01;SOR=0.734	GT:AD:DP:GQ:PL	0/1:2,3,0,0:5:73:115,0,73,121,82,203,121,82,203,203	12	1	6	0
chr16	1432707	1432707	-	GAG	exonic	PERCC1	.	nonframeshift insertion	PERCC1:NM_001365310:exon2:c.114_115insGAG:p.E47_G48insE,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	3063.65	15	chr16	1432701	.	AGAGGAG	AGAG,A,AGAGGAGGAG	3063.65	.	AC=9,1,1;AF=0.214,0.024,0.024;AN=42;BaseQRankSum=-1.580e-01;DP=320;ExcessHet=0.4237;FS=0.000;InbreedingCoeff=0.1368;MLEAC=9,1,1;MLEAF=0.214,0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=24.51;ReadPosRankSum=-6.010e-01;SOR=0.734	GT:AD:DP:GQ:PL	0/1:2,3,0,0:5:73:115,0,73,121,82,203,121,82,203,203	12	1	6	0
chr16	1992881	1992881	G	A	exonic	SYNGR3	.	nonsynonymous SNV	SYNGR3:NM_004209:exon4:c.G499A:p.A167T,	.	.	.	.	.	.	.	.	.	.	.	2674540	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.993	D	0.78	P	0.000	N	1.000	D	1.965	M	2.54	T	-1.150	T	0.057	T	0.495	3.307	17.11	1.78	0.286	7.691	8.666	0.277	0.0411093624748	7.7e-05	.	9.587e-05	0	0	0	0	0.0001	0	0.0002	3.88e-05	6	154602	rs374198453	2.296e-05	2.326e-05	2.07e-05	2.526e-05	0.0018	1.638e-05	1.441e-05	0.0010	0.0007	0	0	0.0007	0	0	0.0018	1.82e-06	3.379e-05	1.202e-05	2.628e-05	2.627e-05	2.569e-05	2.69e-05	.	8.14e-06	5.14e-06	.	.	0	0	0	0.0012	0	0	0	0	0	0	0.019	0.50132	D	0.005	0.72224	D	0.993	0.65571	D	0.78	0.57283	P	0.000185	0.48115	N	0.179351	0.999999	0.81001	D	2.985	0.85602	M	2.54	0.13916	T	-2.96	0.61722	D	0.499	0.53181	-1.1501	0.01022	T	0.057	0.23866	T	10	0.29317945	0.46893	T	0.041109	0.59746	D	0.277	0.59375	.	.	0.307648195649	0.30373	0.8514070402981506	0.85102	1.35464816004	0.84160	0.783896684647	0.79516	T	0.343507	0.71215	T	-0.139864	0.29914	T	-0.310902	0.43562	T	0.487748324871063	0.32181	T	0.851715	0.53598	D	0.18522877	0.39875	0.19735353	0.43512	0.18522877	0.39875	0.19735353	0.43511	-9.988	0.73840	D	.	.	0.573	0.67765	P	.	.	5.599932	0.92448	32	0.99659159364651728	0.77820	0.89663	0.50272	D	AEFDBCI	0.884845	0.81487	D	0.360822304773131	0.59313	4.10971	0.278260565449906	0.54274	3.592727	0.999999995768812	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.52208	0.10781	0	0.562822	0.20929	0	.	.	3.79	1.78	0.23918	7.845000	0.85166	11.663000	0.94010	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.1904:0.0:0.8096:0.0	8.666	0.33285	774	0.48577	Marvel domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1238.98	39	chr16	1992881	.	G	A	1238.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.786;DP=821;ExcessHet=0.0000;FS=0.710;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.06;ReadPosRankSum=0.943;SOR=0.596	GT:AD:DP:GQ:PL	0/1:60,52:112:99:1253,0,1420	20	0	1	0
chr16	2181850	2181850	A	G	exonic	CASKIN1	.	nonsynonymous SNV	CASKIN1:NM_020764:exon17:c.T1709C:p.I570T,	.	.	418	1102	1	1	0	3	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.995	D	.	.	1.000	D	2.22	M	0.73	T	-0.495	T	0.273	T	0.539	3.704	18.82	4.37	1.845	9.000	12.520	0.423	0.190853773312	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1180223456	5.474e-06	5.472e-06	4.085e-06	6.877e-06	0.0007	2.36e-06	1.7e-06	0.0002	0.0001	0	0	0	0	0	0.0007	8.993e-07	4.968e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	0.999	0.77913	D	0.995	0.83170	D	.	.	.	.	1	0.81001	D	2.455	0.71248	M	0.73	0.50721	T	-4.06	0.74582	D	0.795	0.79118	-0.4950	0.68829	T	0.273	0.64443	T	9	0.8851812	0.87844	D	0.190854	0.86149	D	0.423	0.73152	0.644	0.78117	0.588407502108	0.58516	0.8290150215270188	0.82859	1.08794106341	0.77349	0.762580931187	0.76314	T	0.41186	0.76619	T	0.0382918	0.56822	T	-0.182773	0.56267	T	0.992641985416412	0.83178	D	0.924208	0.72277	D	0.69940186	0.78024	0.6333436	0.78602	0.69940186	0.78025	0.6333436	0.78603	-12.845	0.88714	D	.	.	0.363	0.57430	A	.	.	4.585353	0.72484	25.8	0.99757330882894979	0.84772	0.99137	0.91770	D	AEFGBI	0.867434	0.78720	D	0.633031174269061	0.75273	6.277234	0.539446383157934	0.70665	5.538921	0.999985937866404	0.51787	0.741868	0.97996	0	0.694456	0.67091	0	0.774882	0.98623	0	0.567892	0.33627	0	.	.	4.37	4.37	0.51830	9.187000	0.94037	11.043000	0.85201	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.819000	0.38590	1.0:0.0:0.0:0.0	12.520	0.55394	650	0.62973	Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|Caskin1/2, SAM repeat 2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1933.98	34	chr16	2181850	.	A	G	1933.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.300e-01;DP=906;ExcessHet=0.0000;FS=4.027;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.30;ReadPosRankSum=1.29;SOR=0.979	GT:AD:DP:GQ:PL	0/1:121,87:208:99:1948,0,3058	20	0	1	0
chr16	2766730	2766730	T	G	exonic	SRRM2	.	nonsynonymous SNV	SRRM2:NM_016333:exon11:c.T6202G:p.L2068V,	.	.	429	1092	1	0	0	1	0.000457666	.	.	2363335	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.49	T	0.993	D	0.987	D	0.001	D	0.964	N	0.55	N	1.7	T	-1.054	T	0.066	T	0.656	0.811	8.260	1.87	0.383	-0.197	7.051	0.183	0.00520973355703	0.0002	.	0.0001	0	8.661e-05	0	0	0.0002	0	0	0.0001164	18	154602	rs147957204	0.0002	0.0002	0.0002	0.0001	0.0024	0.0001	0.0001	0.0015	0.0012	2.987e-05	4.472e-05	0	0	5.617e-05	0.0024	0.0002	0.0003	0	0.0001	0.0001	0.0001	0.0001	0.0002	8.163e-05	6.72e-05	0.0001	9.897e-05	2.405e-05	0	0.0001	0	0.0002	0	0	0.0002	0.0005	0	.	.	.	0.181	0.29346	T	0.993	0.65571	D	0.987	0.77487	D	0.000611	0.42945	D	0.000000	0.964362	0.25985	N	0.345	0.11182	N	1.7	0.26885	T	-0.57	0.17210	N	0.514	0.54496	-1.0536	0.13413	T	0.066	0.27260	T	10	0.2286863	0.39779	T	0.00521	0.13279	T	0.183	0.45592	.	.	0.353336612579	0.34937	0.43236199433553285	0.43153	.	.	0.609583199024	0.54256	T	0.162105	0.50663	T	-0.273712	0.11346	T	-0.326397	0.41867	T	0.0528638457814048	0.05996	T	0.625537	0.24174	T	0.23351838	0.46157	0.14845252	0.35092	0.23351838	0.46157	0.14845252	0.35091	-3.95	0.23053	T	.	.	0.105	0.19194	B	.	.	1.578062	0.20196	14.63	0.84761640368567437	0.15482	0.49247	0.28390	N	AEFDGBHCI	.	.	.	-0.11766872002089	0.36622	2.119422	-0.165519993422771	0.32814	1.870723	0.999999716727974	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.741806	0.99463	0	.	.	5.47	1.87	0.24559	-0.194000	0.09559	0.116000	0.14850	0.665000	0.62972	0.017000	0.19353	0.013000	0.20296	0.983000	0.59808	0.0:0.3472:0.0:0.6528	7.051	0.24250	779	0.47767	.	.	.	.	.	.	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	0.02381	3723.98	63	chr16	2766730	.	T	G	3723.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.360e+00;DP=1728;ExcessHet=0.0000;FS=2.445;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=1.94;SOR=0.571	GT:AD:DP:GQ:PL	0/1:152,154:306:99:3738,0,3905	20	0	1	0
chr16	3383622	3383622	A	G	exonic	ZSCAN32	.	nonsynonymous SNV	ZSCAN32:NM_001284529:exon3:c.T457C:p.S153P	.	.	435	1081	6	0	0	6	0.00276753	.	.	2340881	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.013	B	0.004	B	0.462	U	1.000	N	1.545	L	3.11	T	-1.002	T	0.015	T	0.197	2.486	14.27	1.91	0.492	0.595	6.288	0.005	0.00145467599887	.	0.000599042	0.0004	9.653e-05	0.0005	0	0	0.0004	0	0.0011	0.000401	62	154602	rs182222831	0.0003	0.0003	0.0002	0.0003	0.0015	0.0003	0.0003	0.0013	0.0012	2.987e-05	0.0004	0.0026	0	0	0.0012	0.0001	0.0006	0.0015	0.0004	0.0004	0.0003	0.0005	0.0019	0.0003	0.0003	0.0010	0.0007	2.413e-05	0	0.0007	0.0029	0	0	0	0.0003	0.0005	0.0019	0.026	0.51248	D	0.05	0.55759	T	.	.	.	.	.	.	0.462347	0.12376	U	0.588655	1	0.08975	N	0.855	0.21307	L	3.11	0.08721	T	-1.27	0.34198	N	0.231	0.27077	-1.0017	0.29430	T	0.015	0.05897	T	10	0.006957531	0.00158	T	0.001455	0.02189	T	0.005	0.00259	.	.	0.225902525712	0.22197	0.07864355475788827	0.07799	0.0612328423319	0.06815	0.259156167507	0.04791	T	0.013701	0.11803	T	-0.561471	0.00249	T	-0.629732	0.10435	T	0.0226711883491411	0.00985	T	0.345765	0.07588	T	0.19129437	0.40751	0.22318006	0.47187	0.19129437	0.40750	0.22318006	0.47186	-2.568	0.12395	T	.	.	0.457	0.63557	A	.;.;.;.;.	.;.;.;.;.	1.521698	0.19533	14.31	0.9907796126617413	0.51882	0.00025	0.00253	N	AEFDBHCI	0.105403	0.21061	N	-0.775081197281657	0.13962	0.6917037	-0.817552655113372	0.14070	0.7332935	0.0185153650591184	0.13067	0.566229	0.32551	0	0.653731	0.59785	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	4.16	1.91	0.24841	1.310000	0.33156	.	.	0.756000	0.94297	0.001000	0.13787	0.000000	0.08366	0.122000	0.19250	0.7807:0.0:0.2193:0.0	6.288	0.20251	809	0.43032	.;.;.;.;.	.	.	.	.	.	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	0.02381	765.98	33	chr16	3383622	.	A	G	765.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.056e+00;DP=739;ExcessHet=0.0000;FS=0.979;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.35;ReadPosRankSum=1.14;SOR=0.536	GT:AD:DP:GQ:PL	0/1:29,33:62:99:780,0,748	20	0	1	0
chr16	3484831	3484831	C	G	exonic	NAA60	.	nonsynonymous SNV	NAA60:NM_001317096:exon5:c.C478G:p.H160D	.	.	415	1056	47	4	0	55	0.0253807	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	D	.	.	.	.	-0.703	T	0.178	T	.	3.905	19.86	3.79	1.482	2.935	5.546	0.232	.	0.0061	0.00519169	0.0140	0.0024	0.0087	0	0.0227	0.0175	0.0087	0.0133	0.0058537	905	154602	rs17793994	0.0087	0.0087	0.0085	0.0090	0.0111	0.0086	0.0086	0.0105	0.0103	0.0014	0.0038	0.0118	5.464e-05	0.0095	0.0103	0.0091	0.0083	0.0111	0.0072	0.0072	0.0067	0.0077	0.0135	0.0068	0.0067	0.0108	0.0099	0.0017	0.0143	0.0035	0.0084	0.0006	0.0119	0	0.0106	0.0071	0.0135	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	-2.4	0.52776	N	0.441	0.47949	-0.7027	0.60309	T	0.178	0.52381	T	5	0.0051259995	0.00111	T	.	.	.	0.232	0.53354	.	.	0.082315109003	0.07666	.	.	.	.	.	.	.	.	.	.	-0.481957	0.00720	T	-0.454687	0.27180	T	0.0682118217340819	0.08399	T	0.30127	0.05674	T	.	.	.	.	.	.	.	.	-3.817	0.21059	T	.	.	0.156	0.34602	B	.	.	1.187958	0.15789	12.10	0.99286555919033248	0.58113	0.91750	0.54184	D	AEFBCI	0.375027	0.45971	N	0.254229443074431	0.53848	3.552079	0.312216166203192	0.56258	3.78877	0.866369319914896	0.25327	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.84	3.79	0.42757	3.250000	0.51146	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.1447:0.6403:0.1399:0.0751	5.546	0.16353	630	0.65016	.	DNASE1	Brain_Cerebellum	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	2904.11	42	chr16	3484831	.	C	G	2904.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-7.180e-01;DP=909;ExcessHet=0.1072;FS=1.018;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.79;ReadPosRankSum=-2.180e-01;SOR=0.772	GT:AD:DP:GQ:PL	0/1:54,61:115:99:1547,0,1399	19	0	2	0
chr16	3781229	3781229	G	T	exonic	CREBBP	.	nonsynonymous SNV	CREBBP:NM_001079846:exon6:c.C1537A:p.L513I	Rubinstein-Taybi syndrome 1, Autosomal dominant	YES	1	1445	71	5	0	81	0.0272635	.	.	100926	Inborn_genetic_diseases|not_specified|Rubinstein-Taybi_syndrome|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.17	T	0.604	P	0.369	B	0.000	D	1.000	D	1.28	L	-1.75	D	-0.226	T	0.400	T	0.54	2.237	13.44	5.49	2.578	5.707	19.361	0.382	.	0.0087	0.00638978	0.0100	0.0019	0.0047	0.0178	0.0021	0.0117	0.0188	0.0106	0.009366	1448	154602	rs61753381	0.0099	0.0100	0.0097	0.0102	0.0370	0.0098	0.0098	0.0329	0.0313	0.0019	0.0055	0.0583	0.0236	0.0019	0.0370	0.0087	0.0137	0.0113	0.0076	0.0076	0.0077	0.0076	0.0129	0.0073	0.0071	0.0104	0.0095	0.0017	0	0.0086	0.0617	0.0129	0.0012	0.0340	0.0084	0.0128	0.0114	0.052	0.39575	T	0.302	0.21144	T	0.604	0.39417	P	0.369	0.43514	B	0.000003	0.62929	D	0.000000	0.99998	0.54805	D	1.225	0.30651	L	-1.75	0.83578	D	-1.15	0.30140	N	0.233	0.26233	-0.2255	0.77006	T	0.400	0.75166	T	10	0.007070422	0.00161	T	.	.	.	0.382	0.69946	.	.	.	.	0.19137380748694238	0.19055	1.331011174	0.83652	0.601731181145	0.53148	T	0.473339	0.80524	T	-0.233667	0.16167	T	-0.0947976	0.63798	T	0.0174632381218672	0.00482	T	0.791621	0.43272	T	0.20917833	0.43177	0.17703225	0.40277	0.20866819	0.43111	0.17703225	0.40276	-4.376	0.29230	T	0.2561851620090893	0.34633	0.087	0.15206	B	.;.;.	.;.;.	4.105940	0.61261	24.3	0.93890401688013392	0.23914	0.96778	0.70889	D	AEFBI	0.617639	0.60374	D	0.271685724131068	0.54720	3.636797	0.373597985528741	0.59941	4.176549	0.999998223959344	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.49	5.49	0.81022	5.816000	0.68900	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.876000	0.41813	0.0:0.0:1.0:0.0	19.361	0.94429	580	0.69689	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.119	9875.44	33	chr16	3781229	.	G	T	9875.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-6.200e-01;DP=1574;ExcessHet=1.1607;FS=1.168;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=10.10;ReadPosRankSum=0.238;SOR=0.839	GT:AD:DP:GQ:PL	0/1:126,66:192:99:1529,0,3361	16	0	5	0
chr16	4461925	4461925	G	A	exonic	NMRAL1	.	nonsynonymous SNV	NMRAL1:NM_001305141:exon6:c.C755T:p.P252L	.	.	413	1094	15	0	0	15	0.0068089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.165	B	0.058	B	0.000	D	0.000	P	2.71	M	1.49	T	-1.087	T	0.000	T	0.703	2.840	15.46	4.72	1.367	1.642	13.089	0.152	.	0.0005	0.0349441	0.0126	0.0009	0.0008	0.1616	0.0015	0.0005	0.0144	0.0030	0.0117657	1819	154602	rs3747582	0.0062	0.0062	0.0063	0.0061	0.1984	0.0061	0.0061	0.1947	0.1932	0.0003	0.0002	0.0008	0.1984	0.0016	0.0035	0.0003	0.0077	0.0034	0.0067	0.0068	0.0058	0.0076	0.1622	0.0063	0.0062	0.1531	0.1494	0.0007	0	0.0026	0.0012	0.1622	0.0014	0	0.0005	0.0090	0.0083	0.131	0.26629	T	0.187	0.43913	T	0.165	0.28508	B	0.058	0.26451	B	0.000020	0.62929	D	0.074949	1.04741e-05	0.54805	P	2.97	0.85306	M	1.49	0.31470	T	-8.08	0.96650	D	0.095	0.07949	-1.0868	0.06084	T	0.000	0.00039	T	9	0.0018475354	0.00025	T	.	.	.	0.152	0.39956	.	.	.	.	0.639394101474842	0.63874	0.0715321236469	0.08007	0.35464450717	0.18603	T	0.214388	0.58713	T	-0.406855	0.02086	T	-0.213376	0.53372	T	0.112764709232975	0.13708	T	0.777622	0.41734	T	0.67576015	0.76741	0.32064545	0.58018	0.67576015	0.76742	0.32064545	0.58017	-8.923	0.67200	D	.	.	0.154	0.35393	B	.;.;.;.;.;.	.;.;.;.;.;.	2.875611	0.38040	20.6	0.9972835410268226	0.82549	0.90127	0.51063	D	AEFDBHCI	0.290177	0.40163	N	-0.0567985129338145	0.39299	2.315253	0.0111904636168977	0.40232	2.397884	0.999999999998401	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	5.7	4.72	0.59248	1.700000	0.37434	3.296000	0.37344	0.676000	0.76740	0.974000	0.34632	1.000000	0.68203	0.202000	0.21954	0.0:0.0:0.8342:0.1658	13.089	0.58570	515	0.74782	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1500.98	35	chr16	4461925	.	G	A	1500.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.410e-01;DP=834;ExcessHet=0.0000;FS=0.775;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.43;ReadPosRankSum=-2.440e-01;SOR=0.824	GT:AD:DP:GQ:PL	0/1:43,61:104:99:1515,0,1077	20	0	1	0
chr16	5089226	5089226	G	A	exonic	EEF2KMT	.	nonsynonymous SNV	EEF2KMT:NM_001289029:exon5:c.C590T:p.S197L	.	.	400	1120	2	0	0	2	0.000892061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.997	D	0.934	D	0.001	U	0.956	N	1.465	L	2.24	T	-1.076	T	0.068	T	0.492	2.896	15.65	4.05	2.256	4.913	13.436	0.218	0.0214554435698	.	0.000399361	0.0001	0	0	0	0	0.0001	0.0012	0.0003	9.7e-05	15	154602	rs556531174	8.729e-05	8.756e-05	7.524e-05	9.945e-05	0.0005	7.455e-05	7.002e-05	0.0002	0.0002	0	8.946e-05	0	0	0	0.0005	7.465e-05	0.0002	0.0003	5.251e-05	5.249e-05	1.284e-05	9.395e-05	0.0004	2.555e-05	1.828e-05	6.825e-05	2.856e-05	0	0	0	0	0.0004	0	0	5.879e-05	0.0005	0.0002	0.139	0.27544	T	0.064	0.49120	T	0.997	0.70673	D	0.934	0.66904	D	0.000576	0.43250	U	0.202236	0.955907	0.26317	N	.	.	.	2.24	0.17923	T	-3.72	0.70793	D	0.535	0.56317	-1.0760	0.08144	T	0.068	0.28047	T	10	0.4194938	0.56767	T	0.021455	0.44231	T	0.218	0.51265	.	.	0.110078149338	0.10416	0.6081712829148036	0.60749	0.044020040872	0.04739	0.536679267883	0.43976	T	0.033918	0.23112	T	-0.119838	0.33151	T	-0.409915	0.32235	T	0.180194169639814	0.19247	T	0.759724	0.39491	T	0.3316721	0.55608	0.3650646	0.61862	0.3316721	0.55608	0.3650646	0.61862	-8.952	0.67387	D	.	.	0.142	0.40131	B	.;.;.	.;.;.	4.397090	0.67907	25.2	0.99882048826993919	0.95813	0.66460	0.33086	D	AEFDBCI	0.459648	0.51017	N	0.199320258355378	0.51166	3.300123	0.159446751294821	0.47645	2.991595	0.00995112631403229	0.11941	0.67177	0.52595	0	0.577304	0.33150	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.05	4.05	0.46415	4.348000	0.59158	9.754000	0.81484	0.674000	0.70861	0.999000	0.42656	1.000000	0.68203	0.045000	0.14751	0.0:0.0:1.0:0.0	13.436	0.60532	884	0.28482	.;.;.	.	.	.	.	.	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	0.025	403.34	33	chr16	5089226	.	G	A	403.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.26;DP=646;ExcessHet=0.0000;FS=1.510;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=14.94;ReadPosRankSum=0.659;SOR=1.061	GT:AD:DP:GQ:PL	0/1:12,15:27:99:417,0,296	19	0	1	1
chr16	11915680	11915682	CCG	-	exonic	GSPT1	.	nonframeshift deletion	GSPT1:NM_001130006:exon1:c.39_41del:p.G16del	.	.	8	113	9	2	94	107	0.0543933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	4985.65	21	chr16	11915673	.	CCCGCCGCCG	CCCGCCG,CCCGCCGCCGCCG,C,CCCGCCGCCGCCGCCGCCGCCG	4985.65	.	AC=1,12,2,1;AF=0.024,0.286,0.048,0.024;AN=42;BaseQRankSum=0.336;DP=705;ExcessHet=4.5793;FS=0.826;InbreedingCoeff=-0.2115;MLEAC=1,12,2,1;MLEAF=0.024,0.286,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=0.494;SOR=0.743	GT:AD:DP:GQ:PL	0/2:11,0,9,0,0:20:99:333,367,819,0,452,425,367,819,452,819,367,819,452,819,819	7	0	1	0
chr16	11915682	11915682	-	CCG	exonic	GSPT1	.	nonframeshift insertion	GSPT1:NM_001130006:exon1:c.38_39insCGG:p.G16_S17insG	.	.	296	676	315	99	136	649	0.275067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	4985.65	21	chr16	11915673	.	CCCGCCGCCG	CCCGCCG,CCCGCCGCCGCCG,C,CCCGCCGCCGCCGCCGCCGCCG	4985.65	.	AC=1,12,2,1;AF=0.024,0.286,0.048,0.024;AN=42;BaseQRankSum=0.336;DP=705;ExcessHet=4.5793;FS=0.826;InbreedingCoeff=-0.2115;MLEAC=1,12,2,1;MLEAF=0.024,0.286,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=0.494;SOR=0.743	GT:AD:DP:GQ:PL	0/2:11,0,9,0,0:20:99:333,367,819,0,452,425,367,819,452,819,367,819,452,819,819	7	0	1	0
chr16	11915682	11915682	-	CCGCCGCCGCCG	exonic	GSPT1	.	nonframeshift insertion	GSPT1:NM_001130006:exon1:c.38_39insCGGCGGCGGCGG:p.G16_S17insGGGG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	4985.65	21	chr16	11915673	.	CCCGCCGCCG	CCCGCCG,CCCGCCGCCGCCG,C,CCCGCCGCCGCCGCCGCCGCCG	4985.65	.	AC=1,12,2,1;AF=0.024,0.286,0.048,0.024;AN=42;BaseQRankSum=0.336;DP=705;ExcessHet=4.5793;FS=0.826;InbreedingCoeff=-0.2115;MLEAC=1,12,2,1;MLEAF=0.024,0.286,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=0.494;SOR=0.743	GT:AD:DP:GQ:PL	0/2:11,0,9,0,0:20:99:333,367,819,0,452,425,367,819,452,819,367,819,452,819,819	7	0	1	0
chr16	11927475	11927475	G	0	exonic	NPIPB2	.	.	.	.	.	1	10	87	120	8	335	0.942363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	95489.43	192	chr16	11927475	.	G	A,*	95489.43	.	AC=30,4;AF=0.714,0.095;AN=42;BaseQRankSum=1.26;DP=4093;ExcessHet=0.0303;FS=0.000;InbreedingCoeff=0.3824;MLEAC=30,4;MLEAF=0.714,0.095;MQ=59.99;MQRankSum=0.00;QD=24.53;ReadPosRankSum=0.415;SOR=0.684	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:116,110,0:226:99:.:.:2562,0,2584,2909,2912,5822	2	11	4	0
chr16	11927632	11927688	GCTGAGGGTGGAAGGGGAGTGAGCAGACACTCGGGAGGTGTCTTGAGATTATCATCC	-	exonic	NPIPB2	.	nonframeshift deletion	NPIPB2:NM_001355514:exon9:c.357_413del:p.D120_A138del,	.	.	431	1073	18	0	0	18	0.00831793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0035	0.0007	0	0.0002	0.0002	0.0023	0.0051	3.84e-05	1	26028	.	0.0008	0.0013	0.0005	0.0010	0.0076	0.0007	0.0007	0.0071	0.0069	0.0039	0.0007	0.0002	0	0.0002	0.0026	0.0002	0.0011	0.0076	0.0033	0.0045	0.0030	0.0035	0.0145	0.0030	0.0029	0.0118	0.0108	0.0089	0	0.0015	0.0003	0	9.495e-05	0.0068	0.0005	0.0010	0.0145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	990.94	41	chr16	11927631	.	AGCTGAGGGTGGAAGGGGAGTGAGCAGACACTCGGGAGGTGTCTTGAGATTATCATCC	A	990.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.99;DP=2375;ExcessHet=0.0000;FS=15.095;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.51;MQRankSum=0.123;QD=4.15;ReadPosRankSum=3.93;SOR=1.779	GT:AD:DP:GQ:PL	0/1:202,37:239:99:1005,0,8276	20	0	1	0
chr16	11927758	11927758	G	C	exonic	NPIPB2	.	nonsynonymous SNV	NPIPB2:NM_001355514:exon9:c.C287G:p.S96C,	.	.	438	1051	33	0	0	33	0.0154567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	.	.	.	.	0.45	T	-0.349	T	0.240	T	0.122	-0.255	2.776	.	.	0.075	.	0.131	0.0582618907125	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1450556377	0.0002	0.0064	9.523e-05	0.0003	0.0011	0.0002	0.0002	0.0008	0.0007	9.191e-05	9.478e-05	3.863e-05	0.0011	0.0011	0	0.0001	0.0002	0.0006	0.0008	0.0037	0.0006	0.0010	0.0027	0.0007	0.0007	0.0015	0.0012	0.0012	0	0.0013	0.0006	0.0027	0.0013	0	0.0002	0.0005	0.0023	0.05	0.39575	D	0.038	0.51421	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	0.56446	T	-2.5	0.54382	D	0.112	0.09914	-0.3494	0.73571	T	0.240	0.60797	T	2	0.18315023	0.33628	T	0.058262	0.67257	D	0.131	0.35738	.	.	0.295974979623	0.29207	0.01663448697236729	0.01618	0.340954684151	0.36029	.	.	.	.	.	.	-0.205534	0.20012	T	-0.533012	0.18987	T	0.00590541775693905	0.00065	T	0.514049	0.16524	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.20508	B	.;.	.;.	0.934291	0.13095	9.599	0.73341217250257651	0.10293	0.00423	0.02085	N	AEFI	0.039253	0.05677	N	-0.34700600144769	0.27382	1.501888	-0.507165962015108	0.21957	1.190372	1.09648973830877E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	0.075000	0.14547	0.823000	0.21872	0.086000	0.17587	0.291000	0.25242	0.000000	0.08366	0.360000	0.25886	.	.	.	758	0.50837	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	59.98	41	chr16	11927758	.	G	C	59.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.637e+00;DP=1237;ExcessHet=0.0000;FS=1.029;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=48.17;MQRankSum=-5.750e-01;QD=0.41;ReadPosRankSum=0.480;SOR=0.499	GT:AD:DP:GQ:PL	0/1:127,19:146:74:74,0,3796	20	0	1	0
chr16	14582206	14582206	G	C	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon16:c.C1029G:p.C343W	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.275	M	1.91	T	-0.639	T	0.257	T	0.982	2.967	15.89	0.019	-0.196	0.232	11.520	0.641	0.443768951762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0022	0.0008	0.0006	0.0009	0.0007	0.0007	0.0008	0.0008	0.0005	4.476e-05	0.0001	0.0003	0	0.0002	0.0009	0.0006	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	1.91	0.47477	T	-9.08	0.98168	D	0.906	0.93370	-0.6388	0.63197	T	0.257	0.62766	T	10	0.95576084	0.94937	D	0.443769	0.94214	D	0.641	0.86333	0.808	0.92512	0.389283895039	0.38539	0.7594861977466015	0.75896	0.721414007513	0.62234	0.886558771133	0.94825	D	0.366013	0.73134	T	0.23211	0.76920	D	0.0956334	0.76619	D	0.997612833976746	0.91988	D	0.970303	0.89317	D	0.96886563	0.98153	0.88045895	0.93594	0.96886563	0.98153	0.88045895	0.93594	-17.118	0.99008	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.616746	0.51161	23.1	0.9928480025877614	0.58043	0.87022	0.46439	D	AEFBI	0.686411	0.64809	D	0.0378907468480801	0.43587	2.648657	-0.0492109747885764	0.37524	2.19827	0.0661472356186695	0.15384	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	0.019	0.13441	0.292000	0.18766	1.715000	0.28221	-0.681000	0.04224	0.982000	0.35529	1.000000	0.68203	0.977000	0.56843	0.4191:0.0:0.5809:0.0	11.520	0.49794	731	0.54177	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	4257.38	166	chr16	14582206	.	G	C	4257.38	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.582e+00;DP=3785;ExcessHet=43.6797;FS=424.104;InbreedingCoeff=-0.9074;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=1.35;ReadPosRankSum=1.10;SOR=14.488	GT:AD:DP:GQ:PL	0/1:105,61:187:99:230,0,1716	1	0	20	0
chr16	14726010	14726010	T	C	exonic	NPIPA2;NPIPA3	.	nonsynonymous SNV	NPIPA3:NM_001277323:exon8:c.T770C:p.I257T	.	.	680	838	3	1	0	5	0.00297442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	-1.79	N	1.03	T	-1.013	T	0.022	T	0.014	-3.204	0.001	.	-1.852	-1.823	.	0.053	0.00314180491617	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs202008061	0.0002	0.0006	0.0002	0.0003	0.0015	0.0002	0.0002	0.0012	0.0011	0.0006	9.87e-05	0.0001	6.174e-05	0.0001	0.0004	7.162e-05	0.0003	0.0015	0.0001	0.0010	0.0001	0.0001	0.0016	5.736e-05	3.907e-05	0.0003	0.0001	0.0002	0	0	0	0	0	0	6.16e-05	0	0.0016	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.955	0.00212	N	1.03	0.40469	T	1.69	0.00584	N	0.033	0.00882	-1.0130	0.25975	T	0.022	0.09330	T	7	0.0345245	0.01664	T	0.003142	0.06845	T	0.053	0.14996	0.512	0.61000	0.0401082797425	0.02173	0.004018539337772436	0.00376	.	.	.	.	.	0.00255	0.01944	T	-0.399187	0.02344	T	-0.811181	0.01639	T	0.0275903080771918	0.01629	T	0.350665	0.07816	T	0.039952904	0.05612	0.124210164	0.29942	0.039952904	0.05611	0.124210164	0.29942	-2.875	0.08896	T	.	.	0.047	0.00067	B	.;.	.;.	-0.716000	0.01284	0.068	0.13017413792314503	0.00244	0.00023	0.00238	N	AEFI	0.015917	0.00327	N	-2.03967317633838	0.00174	0.007436822	-2.06477550391602	0.00222	0.009794188	1.34638258547086E-5	0.02871	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	-1.595000	0.02196	-0.707000	0.07768	-1.119000	0.01475	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	670	0.60992	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.03125	304.08	5	chr16	14726010	.	T	C	304.08	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-3.441e+00;DP=298;ExcessHet=0.0000;FS=20.895;InbreedingCoeff=-0.0832;MLEAC=1;MLEAF=0.031;MQ=33.81;MQRankSum=1.84;QD=11.26;ReadPosRankSum=0.659;SOR=0.007	GT:AD:DP:GQ:PL	0/1:12,15:27:99:316,0,271	15	0	1	5
chr16	14726076	14726076	T	C	exonic	NPIPA2;NPIPA3	.	nonsynonymous SNV	NPIPA3:NM_001277323:exon8:c.T836C:p.L279P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	0.805	L	1.21	T	-1.029	T	0.045	T	0.047	-2.284	0.004	.	-1.852	-2.199	.	0.058	0.00397844653719	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1406462698	0.0001	0.0002	7.276e-05	0.0002	0.0008	9.658e-05	8.852e-05	0.0006	0.0005	0.0003	8.346e-05	0	0	7.619e-05	0	3.95e-05	7.609e-05	0.0008	0	3.443e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.14	0.25664	T	0.129	0.34837	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.9	0.00240	N	1.21	0.37230	T	2.24	0.00310	N	0.06	0.04307	-1.0287	0.20876	T	0.045	0.19437	T	7	0.044898003	0.03499	T	0.003978	0.09431	T	0.058	0.16647	0.505	0.59924	0.24896430686	0.24499	0.0029226128731134407	0.00272	.	.	.	.	.	0.003583	0.02990	T	-0.360451	0.04105	T	-0.75554	0.03275	T	0.0405458349060842	0.03789	T	0.250275	0.03772	T	0.08533533	0.19789	0.1863864	0.41808	0.08533533	0.19789	0.1863864	0.41807	0.926	0.00142	T	.	.	0.044	0.00042	B	.;.	.;.	0.240374	0.06208	2.657	0.23876675828134272	0.01030	0.00009	0.00143	N	AEFI	0.012237	0.00128	N	-1.75679205571942	0.00660	0.02846103	-1.87808912404042	0.00540	0.02397257	1.34638258547086E-5	0.02871	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	-2.187000	0.01335	-2.697000	0.03456	-0.787000	0.03278	0.006000	0.17386	0.000000	0.08366	0.002000	0.04165	.	.	.	670	0.60992	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02632	317.96	8	chr16	14726076	.	T	C	317.96	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.355;DP=263;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0518;MLEAC=1;MLEAF=0.026;MQ=40.98;MQRankSum=1.36;QD=26.50;ReadPosRankSum=0.441;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,9:12:82:0|1:14726076_T_*:331,0,82:14726076	18	0	1	2
chr16	14726108	14726126	GCGGAGTGTCTGCTCTATC	-	exonic	NPIPA2;NPIPA3	.	frameshift deletion	NPIPA3:NM_001277323:exon8:c.868_886del:p.A290Pfs*50	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.202e-06	1.291e-05	0	1.749e-05	8.642e-05	2.15e-06	1.45e-06	2.914e-05	1.757e-05	0	0	0	0	0	0	0	0	8.642e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	294.47	8	chr16	14726107	.	TGCGGAGTGTCTGCTCTATC	T	294.47	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.78;DP=246;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0358;MLEAC=1;MLEAF=0.025;MQ=41.07;MQRankSum=1.18;QD=26.77;ReadPosRankSum=-3.740e-01;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,8:11:99:0|1:14726076_T_*:308,0,102:14726076	19	0	1	1
chr16	14726132	14726139	CCACCCTC	-	exonic	NPIPA2;NPIPA3	.	frameshift deletion	NPIPA3:NM_001277323:exon8:c.892_899del:p.P298Sfs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.778e-05	1.33e-05	0	5.255e-05	0.0002	1.504e-05	1.123e-05	0.0001	8.084e-05	0	5.77e-05	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	274.32	6	chr16	14726131	.	TCCACCCTC	T	274.32	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-3.500e-02;DP=238;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0277;MLEAC=1;MLEAF=0.025;MQ=42.60;MQRankSum=1.03;QD=30.48;ReadPosRankSum=-3.500e-02;SOR=2.093	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,7:9:63:0|1:14726076_T_*:288,0,63:14726076	19	0	1	1
chr16	14726143	14726148	GGATGA	-	exonic	NPIPA2;NPIPA3	.	nonframeshift deletion	NPIPA3:NM_001277323:exon8:c.903_908del:p.D302_D303del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.125e-05	1.375e-05	0	5.889e-05	0.0002	1.679e-05	1.251e-05	0.0001	8.414e-05	0	6.346e-05	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	274.4	8	chr16	14726142	.	CGGATGA	C	274.4	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.53;DP=226;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0330;MLEAC=1;MLEAF=0.025;MQ=42.60;MQRankSum=1.03;QD=30.49;ReadPosRankSum=-1.534e+00;SOR=2.093	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,7:9:63:0|1:14726076_T_*:288,0,63:14726076	19	0	1	1
chr16	14726151	14726152	AT	-	exonic	NPIPA2;NPIPA3	.	frameshift deletion	NPIPA3:NM_001277323:exon8:c.911_912del:p.N304Tfs*22	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.258e-05	1.381e-05	0	4.25e-05	0.0001	1.038e-05	7.03e-06	6.277e-05	4.296e-05	0	6.555e-05	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	277.53	8	chr16	14726150	.	AAT	A	277.53	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.53;DP=209;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0305;MLEAC=1;MLEAF=0.025;MQ=44.31;MQRankSum=0.489;QD=34.69;ReadPosRankSum=-1.534e+00;SOR=2.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,7:8:21:0|1:14726076_T_*:291,0,21:14726076	19	0	1	1
chr16	14726157	14726157	A	G	exonic	NPIPA2;NPIPA3	.	nonsynonymous SNV	NPIPA3:NM_001277323:exon8:c.A917G:p.K306R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.002	B	0.001	B	.	.	1.000	N	1.735	L	1.91	T	-0.939	T	0.125	T	0.085	-0.173	3.159	.	0.077	0.127	.	0.028	0.00504998270267	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.722e-06	7.278e-06	0	1.26e-05	2.389e-05	1.12e-06	4.2e-07	.	.	0	0	0	0	0	0	5.886e-06	0	2.389e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.069	0.43913	T	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.055	0.26876	L	1.91	0.53731	T	-2.03	0.46673	N	0.04	0.01347	-0.9390	0.42774	T	0.125	0.43028	T	7	0.08550596	0.14441	T	0.00505	0.12784	T	0.028	0.06331	0.406	0.43902	0.0666544352282	0.05500	0.005942036118503938	0.00563	.	.	.	.	.	0.048673	0.28085	T	-0.291125	0.09524	T	-0.655957	0.08541	T	0.0813775770482383	0.10163	T	0.962204	0.85735	D	0.16372555	0.36533	0.09664404	0.22970	0.16372555	0.36533	0.09664404	0.22969	-8.793	0.66355	D	.	.	0.135	0.29228	B	.;.	.;.	0.598900	0.09674	6.445	0.57695375609920907	0.05826	0.00560	0.02552	N	AEFI	0.028063	0.02405	N	-1.05101169838483	0.07568	0.3519923	-1.21255902861993	0.05707	0.2727028	1.09608764381542E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	-0.747000	0.04929	-0.528000	0.08651	-0.663000	0.04345	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	670	0.60992	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	277.53	8	chr16	14726157	.	A	G	277.53	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.53;DP=201;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0254;MLEAC=1;MLEAF=0.025;MQ=44.31;MQRankSum=0.489;QD=34.69;ReadPosRankSum=-1.534e+00;SOR=2.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,7:8:21:0|1:14726076_T_*:291,0,21:14726076	19	0	1	1
chr16	14726160	14726171	CACCTCCCGAGT	-	exonic	NPIPA2;NPIPA3	.	nonframeshift deletion	NPIPA3:NM_001277323:exon8:c.920_931del:p.T307_C311delinsS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.497e-06	3.654e-06	0	6.545e-06	2.403e-05	0	0	.	.	0	0	0	0	0	0	0	0	2.403e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	277.5	8	chr16	14726159	.	ACACCTCCCGAGT	A	277.5	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.53;DP=196;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0279;MLEAC=1;MLEAF=0.025;MQ=44.31;MQRankSum=0.489;QD=34.69;ReadPosRankSum=-1.534e+00;SOR=2.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,7:8:21:0|1:14726076_T_*:291,0,21:14726076	19	0	1	1
chr16	14726165	14726165	C	-	exonic	NPIPA2;NPIPA3	.	frameshift deletion	NPIPA3:NM_001277323:exon8:c.925delC:p.E310Sfs*36	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.55e-05	4.21e-05	4.278e-05	6.649e-05	0.0001	3.317e-05	2.615e-05	5.062e-05	3.268e-05	0	7.842e-05	0	0	0	0	4.889e-05	7.419e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	441.48	8	chr16	14726164	.	TC	T,*	441.48	.	AC=2,1;AF=0.050,0.025;AN=40;BaseQRankSum=-2.155e+00;DP=181;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.4819;MLEAC=1,1;MLEAF=0.025,0.025;MQ=36.48;MQRankSum=1.76;QD=19.19;ReadPosRankSum=1.74;SOR=0.330	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:1,0,7:8:21:0|1:14726076_T_*:291,294,336,0,42,21:14726076	18	1	0	1
chr16	14726164	14726165	TC	0	exonic	NPIPA2;NPIPA3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	441.48	8	chr16	14726164	.	TC	T,*	441.48	.	AC=2,1;AF=0.050,0.025;AN=40;BaseQRankSum=-2.155e+00;DP=181;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.4819;MLEAC=1,1;MLEAF=0.025,0.025;MQ=36.48;MQRankSum=1.76;QD=19.19;ReadPosRankSum=1.74;SOR=0.330	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:1,0,7:8:21:0|1:14726076_T_*:291,294,336,0,42,21:14726076	18	1	0	1
chr16	14726173	14726173	T	G	exonic	NPIPA2;NPIPA3	.	nonsynonymous SNV	NPIPA3:NM_001277323:exon8:c.T933G:p.C311W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.927	P	0.827	P	.	.	1.000	N	1.445	L	2.07	T	-0.947	T	0.169	T	0.249	-0.186	3.097	.	0.077	0.115	.	0.044	0.00488465431786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.369e-06	3.843e-06	0	1.733e-05	8.854e-05	1.56e-06	5.8e-07	.	.	0	8.854e-05	0	0	0	0	0	0	2.875e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.014	0.62352	D	0.927	0.51527	P	0.827	0.59428	P	.	.	.	.	1	0.08975	N	2.465	0.71551	M	2.07	0.49919	T	-7.72	0.95696	D	0.266	0.30118	-0.9469	0.41498	T	0.169	0.50923	T	7	0.33282888	0.50482	T	0.004885	0.12255	T	0.044	0.11924	0.663	0.80098	0.412715890961	0.40891	0.009508678960362914	0.00913	.	.	.	.	.	0.182553	0.53460	T	-0.134764	0.30729	T	-0.431356	0.29781	T	0.897474527359009	0.54939	D	0.939306	0.78262	D	0.3606391	0.57884	0.56766	0.74972	0.3606391	0.57885	0.56766	0.74972	-9.219	0.69095	D	.	.	0.492	0.64206	A	.;.	.;.	1.736773	0.22105	15.48	0.85134886668401888	0.15706	0.00386	0.01946	N	AEFI	0.102194	0.20507	N	-0.583096038000359	0.19458	1.018541	-0.889720245470905	0.12337	0.6339994	1.09608764381542E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	0.252000	0.18046	-0.232000	0.10668	0.283000	0.18654	0.001000	0.13787	0.002000	0.18203	0.001000	0.02609	.	.	.	670	0.60992	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02632	278.35	7	chr16	14726173	.	T	G	278.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.53;DP=166;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0662;MLEAC=1;MLEAF=0.026;MQ=44.31;MQRankSum=0.489;QD=34.79;ReadPosRankSum=-1.534e+00;SOR=2.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,7:8:21:0|1:14726076_T_*:291,0,21:14726076	18	0	1	2
chr16	14726177	14726196	CTCACTCCCCTTCCACCCTC	-	exonic	NPIPA2;NPIPA3	.	frameshift deletion	NPIPA3:NM_001277323:exon8:c.937_956del:p.L313Sfs*7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	236.24	6	chr16	14726176	.	GCTCACTCCCCTTCCACCCTC	G	236.24	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.00;DP=152;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0667;MLEAC=1;MLEAF=0.026;MQ=41.58;MQRankSum=0.366;QD=33.75;ReadPosRankSum=-9.670e-01;SOR=2.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,6:7:24:0|1:14726076_T_*:249,0,24:14726076	18	0	1	2
chr16	14726177	14726177	C	0	exonic	NPIPA2;NPIPA3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	723.05	7	chr16	14726177	.	C	T,*	723.05	.	AC=11,1;AF=0.306,0.028;AN=36;BaseQRankSum=-2.530e-01;DP=150;ExcessHet=1.2501;FS=3.780;InbreedingCoeff=-0.0715;MLEAC=12,1;MLEAF=0.333,0.028;MQ=24.72;MQRankSum=-5.240e-01;QD=10.96;ReadPosRankSum=0.036;SOR=1.239	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:1,0,6:7:24:0|1:14726076_T_*:249,252,294,0,42,24:14726076	8	2	7	3
chr16	14726199	14726238	CTCCACCCTCAGTGGATGATAATCTCAAGACACCTCCCAA	-	exonic	NPIPA2;NPIPA3	.	frameshift deletion	NPIPA3:NM_001277323:exon8:c.959_998del:p.A320Gfs*13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	68.27	4	chr16	14726198	.	GCTCCACCCTCAGTGGATGATAATCTCAAGACACCTCCCAA	G	68.27	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-9.670e-01;DP=116;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0610;MLEAC=1;MLEAF=0.026;MQ=23.04;MQRankSum=-9.670e-01;QD=22.76;ReadPosRankSum=-9.670e-01;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,2:3:36:0|1:14726076_T_*:81,0,36:14726076	18	0	1	2
chr16	20341254	20341254	A	G	exonic	UMOD	.	nonsynonymous SNV	UMOD:NM_001008389:exon7:c.T1414C:p.Y472H	Glomerulocystic kidney disease with hyperuricemia and isosthenuria;Hyperuricemic nephropathy, familial juvenile 1, Autosomal dominant;Medullary cystic kidney disease 2	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.179	B	0.33	B	0.038	N	0.946	N	2.36	M	-1.72	D	-0.151	T	0.571	D	0.27	2.644	14.80	4.22	0.916	4.897	9.917	0.424	0.0476934600087	.	.	8.241e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs770836612	6.156e-06	6.156e-06	1.361e-06	1.1e-05	3.478e-05	2.9e-06	2.1e-06	9.24e-06	4.56e-06	0	2.236e-05	0	0	0	0	2.698e-06	3.311e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.44358	D	0.041	0.52389	D	0.179	0.28995	B	0.33	0.42079	B	0.038447	0.24284	N	0.298098	0.945839	0.26649	N	1.855	0.49169	L	-1.72	0.83241	D	-4.46	0.77798	D	0.328	0.37509	-0.1515	0.78879	T	0.571	0.84485	D	10	0.33434564	0.50610	T	0.047693	0.63038	D	0.424	0.73226	0.622	0.75690	0.654990179022	0.65211	0.7808967824336024	0.78040	0.20091022214	0.22489	0.45893651247	0.33164	T	.	.	.	-0.151333	0.28104	T	-0.273628	0.47451	T	0.760076880455017	0.43855	D	0.727427	0.34191	T	0.58817655	0.72052	0.38898283	0.63729	0.58817655	0.72053	0.38898283	0.63729	-9.194	0.68937	D	0.6420018679419429	0.71286	0.288	0.60166	B	.;.;.;.	.;.;.;.	3.394880	0.47017	22.4	0.99396951959911706	0.62610	0.91752	0.54188	D	AEFDBI	0.675921	0.64114	D	0.077402454620751	0.45409	2.798004	0.158699517667587	0.47605	2.988222	0.00888125254026803	0.11759	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.34	4.22	0.49153	3.246000	0.51115	7.881000	0.72509	0.756000	0.94297	0.988000	0.36536	1.000000	0.68203	0.971000	0.54645	0.9172:0.0:0.0828:0.0	9.917	0.40608	845	0.36510	.;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain	.	.	.	.	.	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	0.02381	1836.98	51	chr16	20341254	.	A	G	1836.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.72;DP=1051;ExcessHet=0.0000;FS=3.583;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.50;ReadPosRankSum=-1.360e+00;SOR=1.006	GT:AD:DP:GQ:PL	0/1:106,69:175:99:1851,0,2889	20	0	1	0
chr16	20359422	20359422	G	A	exonic	PDILT	.	nonsynonymous SNV	PDILT:NM_174924:exon12:c.C1652T:p.P551L,	.	.	414	1106	2	0	0	2	0.000903342	.	.	3371913	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.0	B	0.001	B	0.014	N	1.000	N	0.55	N	4.07	T	-0.986	T	0.012	T	0.106	1.659	11.51	3.45	1.184	0.296	8.797	0.038	0.00413998775637	.	0.000199681	0.0002	0	0	0	0	1.498e-05	0	0.0013	0.0001488	23	154602	rs535617333	8.14e-05	8.14e-05	3.539e-05	0.0001	0.0012	6.934e-05	6.486e-05	0.0010	0.0010	0	2.236e-05	0	0	0	0.0003	8.093e-06	3.311e-05	0.0012	4.599e-05	4.594e-05	3.856e-05	5.377e-05	0.0006	2.109e-05	1.527e-05	0.0002	9e-05	7.225e-05	0	0	0	0	0	0	1.47e-05	0	0.0006	0.125	0.27310	T	0.0	0.92824	D	0.0	0.02946	B	0.001	0.04355	B	0.014018	0.01379	N	2.860490	1	0.08975	N	1.195	0.30194	L	4.07	0.03033	T	-0.89	0.24026	N	0.125	0.11769	-0.9858	0.33639	T	0.012	0.04416	T	10	0.012921512	0.00276	T	0.00414	0.09931	T	0.038	0.09825	0.331	0.31681	0.253726318573	0.24972	0.14966853257757162	0.14888	0.120603467503	0.13580	0.277751207352	0.07181	T	8.72E-4	0.00441	T	-0.642949	0.00080	T	-0.736861	0.04024	T	0.0411544616252675	0.03900	T	0.442956	0.12306	T	0.043231282	0.06699	0.04274188	0.05158	0.043231282	0.06698	0.04274188	0.05158	-2.883	0.08974	T	.	.	0.074	0.05017	B	.	.	0.536635	0.09050	5.835	0.76480555946785378	0.11485	0.03097	0.08025	N	AEFBI	0.034620	0.04320	N	-0.836655253997028	0.12381	0.6031417	-0.82753679472843	0.13829	0.7194963	1.57280517104515E-4	0.05650	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.42	3.45	0.38602	0.305000	0.19006	1.250000	0.25164	0.601000	0.45875	0.000000	0.06391	0.001000	0.17328	0.003000	0.05239	0.1055:0.0:0.8945:0.0	8.797	0.34047	758	0.50837	.	.	.	.	.	.	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	0.02381	2185.98	33	chr16	20359422	.	G	A	2185.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.91;DP=858;ExcessHet=0.0000;FS=3.511;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=-1.246e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/1:89,83:172:99:2200,0,2152	20	0	1	0
chr16	21127750	21127750	G	A	exonic	DNAH3	.	nonsynonymous SNV	DNAH3:NM_017539:exon8:c.C1145T:p.P382L	.	.	426	1081	14	1	0	16	0.00734619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	1.0	D	0.995	D	0.005	N	1.000	D	1.7	L	2.4	T	-1.097	T	0.060	T	0.649	1.830	12.08	5.57	2.618	6.690	16.467	0.185	.	0.0063	0.00698882	0.0097	0.0021	0.0571	0	0.0005	0.0063	0.0022	0.0044	0.0093401	1444	154602	rs72780871	0.0074	0.0074	0.0076	0.0072	0.0471	0.0073	0.0072	0.0454	0.0447	0.0016	0.0471	0.0029	0	0.0012	0.0073	0.0069	0.0062	0.0049	0.0062	0.0062	0.0066	0.0058	0.0204	0.0059	0.0057	0.0185	0.0178	0.0020	0	0.0204	0.0035	0	0.0013	0.0068	0.0073	0.0057	0.0031	0.587	0.05862	T	.	.	.	0.028	0.19712	B	0.024	0.20255	B	0.004762	0.33407	N	0.246151	1	0.81001	D	1.915	0.51223	L	2.22	0.18248	T	-2.6	0.55983	D	0.625	0.63968	-1.0968	0.04501	T	0.060	0.25200	T	10	0.003222406	0.00055	T	.	.	.	0.185	0.45933	.	.	.	.	0.6975583790644141	0.69696	0.0997444713574	0.11265	0.548133075237	0.45594	T	0.018129	0.14670	T	-0.383538	0.02959	T	-0.286458	0.46138	T	0.0431534046224785	0.04265	T	0.836316	0.50742	T	0.11362422	0.26833	0.15789765	0.36900	0.11362422	0.26833	0.15789765	0.36899	-0.898	0.00893	T	.	.	0.332	0.55383	B	.	.	3.345607	0.46121	22.2	0.80180594998579779	0.13082	0.95032	0.63190	D	AEFBI	0.624976	0.60834	D	0.240198845700306	0.53157	3.485798	0.352905067146418	0.58683	4.040291	0.999649486939512	0.41316	0.553676	0.25195	0	0.573888	0.26702	0	0.608075	0.38828	0	0.620846	0.47308	0	.	.	5.57	5.57	0.84021	7.272000	0.77907	11.541000	0.93133	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.870000	0.41412	0.0:0.0:1.0:0.0	16.467	0.83926	462	0.78611	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	719.98	33	chr16	21127750	.	G	A	719.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.440e-01;DP=752;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.23;ReadPosRankSum=-1.433e+00;SOR=0.678	GT:AD:DP:GQ:PL	0/1:46,32:78:99:734,0,1196	20	0	1	0
chr16	22008408	22008408	-	AGCACTCACTGTGGGCCTCGTGCGACAGTGTCAAACAATCCATGGACGAGACCGGACGTGCA	splicing	MOSMO	NM_001164579:exon1:c.106+1->AGCACTCACTGTGGGCCTCGTGCGACAGTGTCAAACAATCCATGGACGAGACCGGACGTGCA	.	.	.	.	412	1061	20	0	29	49	0.00933707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.392e-05	0.0007	0	0	0	0	0	0	3.84e-05	1	26028	.	0.0002	0.0002	0.0001	0.0002	0.0005	0.0001	0.0001	0.0002	0.0002	0.0002	0.0003	0	0.0004	0.0003	0.0005	0.0001	0.0002	0.0002	0.0002	0.0007	0.0002	0.0002	0.0006	0.0001	0.0001	0.0002	9.952e-05	0.0002	0	0.0003	0	0.0006	9.461e-05	0	0.0001	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	495.94	34	chr16	22008408	.	G	GAGCACTCACTGTGGGCCTCGTGCGACAGTGTCAAACAATCCATGGACGAGACCGGACGTGCA	495.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=6.20;DP=1139;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.91;MQRankSum=-7.317e+00;QD=4.39;ReadPosRankSum=-2.012e+00;SOR=0.705	GT:AD:DP:GQ:PL	0/1:94,19:113:99:510,0,3895	20	0	1	0
chr16	22075699	22075699	-	TGATCCTTTTCTGTATGGCTGCCCTAATATTTCCAATAG	exonic	MOSMO	.	nonframeshift insertion	MOSMO:NM_001164579:exon2:c.319_320insTGATCCTTTTCTGTATGGCTGCCCTAATATTTCCAATAG:p.I119_G120insVILFCMAALIFPI,	.	.	428	1079	9	0	6	15	0.00415321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0030	0.0012	0.012	0.0033	0.0033	0.0010	0	0.0050	6.5e-06	1	154602	rs777064731	0.0011	0.0021	0.0010	0.0012	0.0064	0.0010	0.0010	0.0057	0.0055	0.0018	0.0020	0.0024	0.0064	0.0043	0.0016	0.0007	0.0014	0.0011	0.0010	0.0034	0.0009	0.0011	0.0015	0.0009	0.0008	0.0012	0.0011	0.0015	0.0022	0.0014	0.0012	0.0014	0.0012	0	0.0005	0.0005	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1066.07	35	chr16	22075699	.	A	ATGATCCTTTTCTGTATGGCTGCCCTAATATTTCCAATAG	1066.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.311;DP=1158;ExcessHet=0.1072;FS=3.997;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.39;MQRankSum=-2.603e+00;QD=5.92;ReadPosRankSum=-3.003e+00;SOR=1.157	GT:AD:DP:GQ:PL	0/1:75,17:92:99:457,0,3098	19	0	2	0
chr16	22534423	22534434	TCCACCCTCAGC	-	exonic	NPIPB5	.	nonframeshift deletion	NPIPB5:NM_001135865:exon7:c.1440_1451del:p.P485_A488del,	.	.	650	831	35	1	5	42	0.0217775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0069	.	0.0082	0.0129	0.0036	0.0043	0.0034	0.0074	0.0133	0.0154	3.84e-05	1	26028	rs772371465	0.0006	0.0030	0.0005	0.0007	0.0014	0.0006	0.0005	0.0011	0.0011	9.841e-05	0.0001	0.0002	0.0005	0.0019	0.0004	0.0005	0.0006	0.0014	0.0022	0.0031	0.0028	0.0017	0.0124	0.0017	0.0016	0.0034	0.0018	0.0019	0.0135	0.0031	0.0028	0.0081	0.0015	0	0.0019	0	0.0124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	599.94	47	chr16	22534422	.	TTCCACCCTCAGC	T	599.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.51;DP=1296;ExcessHet=0.0000;FS=11.485;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=40.62;MQRankSum=0.484;QD=1.95;ReadPosRankSum=1.63;SOR=2.969	GT:AD:DP:GQ:PL	0/1:271,36:307:99:614,0,6815	20	0	1	0
chr16	23757554	23757554	C	T	exonic	CHP2	.	stopgain	CHP2:NM_022097:exon7:c.C562T:p.Q188X,	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	8.003	40	4.57	2.536	4.888	15.233	.	.	0.0034	0.00299521	0.0077	0.0003	0.0013	0	0.0532	0.0073	0.0187	0.0041	0.0066299	1025	154602	rs61731149	0.0056	0.0056	0.0054	0.0057	0.0043	0.0055	0.0054	0.0042	0.0042	0.0004	0.0014	0.0019	7.557e-05	0.0485	0.0005	0.0043	0.0042	0.0040	0.0070	0.0070	0.0052	0.0089	0.0064	0.0067	0.0065	0.0059	0.0057	0.0005	0	0.0003	0.0014	0	0.0549	0	0.0064	0.0019	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	0.000104	0.50451	D	0.076065	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.746	0.74553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279421	0.81266	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.206949	0.98615	40	0.99738847248574836	0.83337	0.96290	0.68418	D	AEFBI	0.062977	0.12139	N	0.947099820626235	0.93869	12.334	0.786206962780859	0.88817	9.727287	0.999993131620413	0.74766	0.648238	0.45900	0	0.59043	0.45803	0	0.693144	0.63139	0	0.564101	0.26826	0	.	.	4.57	4.57	0.55860	5.371000	0.65903	6.806000	0.56638	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	15.233	0.73096	872	0.31118	.	.	.	.	.	rs61731149	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	0.02381	1057.98	36	chr16	23757554	.	C	T	1057.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.730e-01;DP=898;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.53;ReadPosRankSum=1.54;SOR=0.665	GT:AD:DP:GQ:PL	0/1:67,44:111:99:1072,0,1695	20	0	1	0
chr16	25692439	25692444	CCTCCG	-	exonic	HS3ST4	.	nonframeshift deletion	HS3ST4:NM_006040:exon1:c.22_27del:p.P15_P16del,	.	.	0	221	3	1	1	6	0.0111857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0481	0	0	0	.	0	0	0.0610	7.68e-05	2	26028	rs779793937	0.0005	0.0005	0.0004	0.0006	0.0083	0.0005	0.0005	0.0075	0.0072	9.488e-05	0.0002	0.0021	0.0001	0	0.0028	0.0002	0.0006	0.0083	0.0006	0.0006	0.0004	0.0008	0.0070	0.0005	0.0005	0.0051	0.0045	0.0002	0.0115	0.0003	0.0018	0.0002	0	0	0.0004	0	0.0070	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1161.94	33	chr16	25692438	.	TCCTCCG	T	1161.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=817;ExcessHet=0.0000;FS=4.087;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.03;ReadPosRankSum=-2.450e+00;SOR=1.390	GT:AD:DP:GQ:PL	0/1:28,30:58:99:1176,0,1024	20	0	1	0
chr16	30369938	30369938	-	GGGGCT	exonic	TBC1D10B	.	nonframeshift insertion	TBC1D10B:NM_015527:exon1:c.245_246insAGCCCC:p.A83_V84insPA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1281544370	1.597e-05	1.73e-05	1.975e-05	1.182e-05	0.0013	9.73e-06	7.95e-06	0.0005	0.0003	0	0	6.538e-05	0	0	0.0013	9.023e-06	4.522e-05	3.011e-05	2.076e-05	2.073e-05	1.352e-05	2.836e-05	0.0002	5.52e-06	2.53e-06	.	.	0	0	6.688e-05	0	0	0	0	1.574e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	213.03	31	chr16	30369938	.	C	CGGGGCT,*	213.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=1.53;DP=542;ExcessHet=0.1072;FS=1.550;InbreedingCoeff=-0.0503;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=7.35;ReadPosRankSum=2.10;SOR=1.215	GT:AD:DP:GQ:PL	0/1:8,6,0:14:99:227,0,246,252,264,516	19	0	1	0
chr16	30369938	30369938	C	0	exonic	TBC1D10B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	213.03	31	chr16	30369938	.	C	CGGGGCT,*	213.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=1.53;DP=542;ExcessHet=0.1072;FS=1.550;InbreedingCoeff=-0.0503;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=7.35;ReadPosRankSum=2.10;SOR=1.215	GT:AD:DP:GQ:PL	0/1:8,6,0:14:99:227,0,246,252,264,516	19	0	1	0
chr16	31080387	31080387	C	T	exonic	ZNF646	.	nonsynonymous SNV	ZNF646:NM_014699:exon2:c.C4063T:p.R1355W,	.	.	418	1095	8	1	0	10	0.00454545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.517	P	0.063	B	.	.	1.000	N	0.805	L	2.98	T	-0.993	T	0.017	T	0.314	2.530	14.42	4.3	1.426	.	4.795	0.046	0.0110771603612	7.7e-05	.	0.0003	0	0.0021	0	0	7.677e-05	0	0.0001	0.0002329	36	154602	rs200795473	0.0003	0.0003	0.0003	0.0003	0.0016	0.0003	0.0002	0.0013	0.0012	0	0.0016	0	0	1.901e-05	0.0010	0.0003	0.0003	0.0002	7.875e-05	7.873e-05	7.707e-05	8.052e-05	0.0002	4.492e-05	3.508e-05	2.846e-05	1.858e-05	7.213e-05	0	0.0001	0	0	0	0	7.349e-05	0.0005	0.0002	0.002	0.72154	D	0.008	0.67890	D	0.517	0.37451	P	0.063	0.27082	B	.	.	.	.	1	0.08975	N	2.095	0.58118	M	2.95	0.09635	T	-1.94	0.45042	N	0.259	0.29313	-0.9926	0.31933	T	0.017	0.06807	T	9	0.019007504	0.00419	T	0.011077	0.28332	T	0.046	0.12618	.	.	0.514587094315	0.51101	0.36539140185632996	0.36453	0.766464379829	0.64535	0.510289311409	0.40263	T	0.091859	0.38883	T	-0.509863	0.00503	T	-0.51839	0.20458	T	0.092089266843435	0.11463	T	0.883212	0.60517	D	0.0581779	0.11674	0.06427366	0.12857	0.0581779	0.11673	0.06427366	0.12857	-7.089	0.54681	T	.	.	0.194	0.47005	B	.;.	.;.	2.938689	0.39066	20.9	0.99873842004282454	0.95076	0.45825	0.27624	N	AEFDBHCI	0.130391	0.24893	N	-0.171405448836957	0.34328	1.958102	-0.0909539969250169	0.35763	2.072948	0.999996706874999	0.74766	0.712529	0.81865	0	0.577304	0.33150	0	0.635938	0.45252	0	0.636168	0.56350	0	.	.	5.26	4.3	0.50540	-0.063000	0.11612	.	.	0.599000	0.40250	0.002000	0.15269	0.991000	0.31484	0.502000	0.29062	0.1833:0.6582:0.0:0.1585	4.795	0.12634	41	0.97903	.;.	.	.	.	.	.	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	0.04762	2410.11	58	chr16	31080387	.	C	T	2410.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.87;DP=1245;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.93;ReadPosRankSum=-2.480e-01;SOR=0.698	GT:AD:DP:GQ:PL	0/1:55,47:102:99:1119,0,1220	19	0	2	0
chr16	31473847	31473847	G	T	exonic	TGFB1I1	.	nonsynonymous SNV	TGFB1I1:NM_001042454:exon4:c.G195T:p.K65N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.773	P	0.399	B	0.000	D	0.998	D	2.015	M	0.06	T	-0.821	T	0.211	T	0.281	3.323	17.18	2.89	0.598	0.960	6.568	0.102	0.0342292202489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.051	0.54934	T	0.773	0.44016	P	0.399	0.44455	B	0.000035	0.55875	D	0.120508	0.99753	0.43968	D	2.475	0.71894	M	0.06	0.61798	T	-1.85	0.59710	N	0.451	0.49237	-0.8205	0.53902	T	0.211	0.57134	T	10	0.27658564	0.45221	T	0.034229	0.55532	D	0.102	0.29158	0.315	0.29096	0.53911333632	0.53562	0.6288289913766608	0.62815	0.337990986276	0.35776	0.821242451668	0.85219	D	0.174099	0.52320	T	-0.0310294	0.47268	T	-0.282348	0.46564	T	0.979388773441315	0.72804	D	0.938506	0.76932	D	0.36904564	0.58514	0.3128299	0.57283	0.36904564	0.58514	0.3128299	0.57282	-11.277	0.84097	D	.	.	0.990	0.93663	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.093639	0.41662	21.4	0.99690652180754058	0.79909	0.92372	0.55559	D	AEFBI	0.355437	0.44717	N	0.122593237643475	0.47518	2.976419	0.125060324468897	0.45836	2.839655	0.999858308447154	0.44174	0.722319	0.85440	0	0.588066	0.40923	0	0.493711	0.08198	1	0.735409	0.98432	0	.	.	4.91	2.89	0.32713	1.158000	0.31347	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2306:0.0:0.7694:0.0	6.568	0.21719	334	0.86273	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	35.98	33	chr16	31473847	.	G	T	35.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.408e+00;DP=807;ExcessHet=0.0000;FS=56.331;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.34;ReadPosRankSum=0.918;SOR=6.184	GT:AD:DP:GQ:PL	0/1:84,21:105:50:50,0,2037	20	0	1	0
chr16	50669118	50669118	A	G	exonic	SNX20	.	nonsynonymous SNV	SNX20:NM_153337:exon4:c.T313C:p.Y105H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	.	.	0.68	T	-1.008	T	0.075	T	0.027	-0.551	1.503	-2.28	-0.568	-0.033	2.621	0.056	0.00300890923964	.	.	5.021e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs775853805	4.49e-06	8.904e-06	1.484e-06	7.546e-06	6.413e-05	1.62e-06	1.06e-06	2.473e-05	1.56e-05	0	0	0	0	0	0	9.788e-07	0	6.413e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.68	0.51952	T	0.26	0.04380	N	0.105	0.08925	-1.0079	0.27572	T	0.075	0.30303	T	8	0.046744525	0.03904	T	0.003009	0.06457	T	0.056	0.15993	0.142	0.04556	0.17258766438	0.16869	.	.	.	.	.	.	.	.	.	.	-0.461988	0.00955	T	-0.705088	0.05552	T	0.0242726447613716	0.01180	T	.	.	.	.	.	.	.	.	.	.	.	-1.936	0.02949	T	.	.	.	.	.	.	.	0.168040	0.05572	2.031	0.21305222156409784	0.00806	0.00181	0.01060	N	AEFBHCI	0.018182	0.00532	N	-1.44978341585961	0.02218	0.09771435	-1.5702585569571	0.01840	0.08383224	0.999813033384949	0.43459	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.38	-2.28	0.06438	-0.030000	0.12257	0.108000	0.14741	-2.084000	0.00402	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.435:0.0:0.3459:0.2191	2.621	0.04619	763	0.50172	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	1574.94	129	chr16	50669118	.	A	G	1574.94	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-4.087e+00;DP=2354;ExcessHet=1.7912;FS=129.128;InbreedingCoeff=-0.1838;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=1.69;ReadPosRankSum=0.663;SOR=9.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,32:194:99:0|1:50669118_A_G:325,0,5747:50669118	15	0	6	0
chr16	54285864	54285864	C	G	exonic	IRX3	.	nonsynonymous SNV	IRX3:NM_024336:exon1:c.G187C:p.A63P,	.	.	364	1157	1	0	0	1	0.000431965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.993	D	0.737	P	0.000	U	0.999	D	2.085	M	0.34	T	-0.601	T	0.240	T	0.615	2.879	15.59	3.53	1.795	1.796	14.873	0.271	0.952401635061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.637e-06	8.209e-06	4.267e-06	1.311e-05	0.0002	4.61e-06	3.64e-06	3.93e-06	2.85e-06	0	0	0	0	0	0.0002	8.351e-06	3.472e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.41364	D	0.164	0.31026	T	0.993	0.65571	D	0.737	0.55577	P	0.000012	0.62929	U	0.065207	0.998849	0.45546	D	2.07	0.56829	M	0.34	0.58176	T	-0.82	0.22508	N	0.616	0.63204	-0.6011	0.64772	T	0.240	0.60845	T	10	0.8635091	0.85582	D	0.952402	0.99676	D	0.271	0.58633	0.593	0.72247	0.620183206235	0.61710	0.6813302064638868	0.68072	.	.	0.930662274361	0.99025	D	0.164069	0.50939	T	-0.0053769	0.50911	T	-0.2455	0.50261	T	0.897873759269714	0.54986	D	0.787421	0.42665	T	0.61657625	0.73580	0.6238059	0.78076	0.61657625	0.73581	0.6238059	0.78077	-10.824	0.78684	D	.	.	0.570	0.67631	P	.	.	4.170570	0.62707	24.5	0.99202050818521392	0.55321	0.81339	0.40763	D	AEFDGBHCI	0.574964	0.57754	D	0.292512804967393	0.55769	3.740963	0.222484353968641	0.51096	3.295291	0.999999999999796	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	3.53	3.53	0.39533	2.173000	0.42099	5.569000	0.48938	0.461000	0.21595	0.955000	0.33325	1.000000	0.68203	0.851000	0.40252	0.0:1.0:0.0:0.0	14.873	0.70108	942	0.12992	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	951.98	34	chr16	54285864	.	C	G	951.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.953;DP=801;ExcessHet=0.0000;FS=6.381;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.60;ReadPosRankSum=-2.518e+00;SOR=0.842	GT:AD:DP:GQ:PL	0/1:32,38:70:99:966,0,703	20	0	1	0
chr16	66823281	66823281	T	C	exonic	NAE1	.	nonsynonymous SNV	NAE1:NM_001018160:exon5:c.A80G:p.D27G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.647	P	0.378	B	0.000	D	1.000	D	1.84	L	0.84	T	-0.901	T	0.154	T	0.731	3.314	17.14	4.78	1.896	7.581	14.602	0.231	0.0208761258462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.33753	T	0.075	0.42976	T	0.407	0.34981	B	0.378	0.43788	B	0.000001	0.84330	D	0.052997	1	0.81001	D	1.795	0.47270	L	0.84	0.47477	T	-2.77	0.58733	D	0.615	0.63798	-0.9008	0.47910	T	0.154	0.48430	T	10	0.5293914	0.63096	D	0.020876	0.43558	T	0.231	0.53208	0.523	0.62668	0.687836408464	0.68516	0.7237786903322078	0.72321	0.420935812295	0.42609	0.684337496758	0.64891	T	0.20038	0.55794	T	0.0804998	0.62098	D	-0.122144	0.61627	T	0.97700434923172	0.71640	D	0.972403	0.92553	D	0.57748663	0.71471	0.34648156	0.60315	0.57748663	0.71472	0.34648156	0.60315	-8.91	0.68874	D	.	.	0.597	0.68735	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.683808	0.74978	26.3	0.99334894869779522	0.59934	0.96941	0.71780	D	AEFBHCI	0.906918	0.86030	D	0.230208873191102	0.52667	3.439522	0.324970129236951	0.57011	3.865569	0.999999919631432	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.78	4.78	0.60666	7.642000	0.82531	6.210000	0.55001	0.605000	0.46263	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	14.602	0.68045	67	0.97183	.;THIF-type NAD/FAD binding fold;.;.;.;THIF-type NAD/FAD binding fold;THIF-type NAD/FAD binding fold	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.175	350.22	138	chr16	66823281	.	T	C	350.22	.	AC=7;AF=0.175;AN=40;BaseQRankSum=-3.935e+00;DP=1576;ExcessHet=2.5830;FS=217.219;InbreedingCoeff=-0.2105;MLEAC=7;MLEAF=0.175;MQ=60.00;MQRankSum=0.00;QD=0.43;ReadPosRankSum=0.615;SOR=11.035	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,33:111:99:.:.:100,0,1350	13	0	7	1
chr16	67228398	67228398	C	G	exonic	TMEM208	.	nonsynonymous SNV	TMEM208:NM_014187:exon3:c.C146G:p.A49G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.679	P	0.136	B	0.000	D	1.000	D	1.39	L	1.52	T	-1.096	T	0.060	T	0.366	2.071	12.88	5.39	2.528	4.514	15.888	0.079	0.0137786039362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	1.437e-05	0	1.375e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	0.12632	T	0.342	0.17910	T	0.679	0.41373	P	0.136	0.33270	B	0.000340	0.45700	D	0.193031	0.994158	0.81001	D	1.7	0.43825	L	1.52	0.30669	T	-1.76	0.42191	N	0.539	0.58287	-1.0958	0.04639	T	0.060	0.25237	T	10	0.29794908	0.47354	T	0.013779	0.33440	T	0.079	0.23065	0.457	0.52265	0.0762999501168	0.06990	0.5849071720731794	0.58420	0.288640209993	0.31269	0.727495908737	0.71140	T	0.060991	0.31535	T	-0.105032	0.35590	T	-0.388647	0.34711	T	0.644348740577698	0.38221	D	0.905209	0.66592	D	0.18404564	0.39701	0.18685585	0.41883	0.18404564	0.39700	0.18685585	0.41883	-4.656	0.32867	T	.	.	0.144	0.35951	B	.;.	.;.	3.123735	0.42181	21.5	0.97918489311336776	0.36864	0.96631	0.70114	D	AEFGBHCI	0.849400	0.76622	D	0.248460247980296	0.53561	3.524604	0.366247796533668	0.59493	4.127561	0.99999999987856	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.606735	0.37207	0	0.735409	0.98432	0	.	.	5.39	5.39	0.77615	4.879000	0.62792	5.972000	0.52016	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.888	0.79052	25	0.98345	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1765	123.4	57	chr16	67228398	.	C	G	123.4	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-2.360e+00;DP=1501;ExcessHet=1.7912;FS=113.169;InbreedingCoeff=-0.2184;MLEAC=6;MLEAF=0.176;MQ=60.00;MQRankSum=0.00;QD=0.22;ReadPosRankSum=0.968;SOR=10.087	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,15:89:3:0|1:67228398_C_G:3,0,2315:67228398	11	0	6	4
chr16	68074037	68074037	G	A	exonic	DUS2	.	nonsynonymous SNV	DUS2:NM_001271763:exon11:c.G709A:p.V237M	.	.	.	.	.	.	.	.	.	.	.	3241176	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.277	B	0.297	B	0.000	D	1.000	D	1.42	L	1.55	T	-1.048	T	0.087	T	0.502	4.197	21.8	4.55	1.328	5.469	13.907	0.105	0.0142052659216	.	.	1.648e-05	0	0	0.0002	0	0	0	0	1.94e-05	3	154602	rs766723286	4.105e-06	4.104e-06	2.723e-06	5.501e-06	0.0001	1.48e-06	9.7e-07	3.348e-05	1.981e-05	0	0	0	0.0001	0	0	0	3.312e-05	0	6.571e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.004	0.72154	D	0.01	0.66756	D	0.146	0.31978	B	0.297	0.40924	B	0.000267	0.46590	D	0.148012	1	0.81001	D	1.465	0.36909	L	1.55	0.29866	T	-2.39	0.52612	N	0.593	0.61256	-1.0481	0.14932	T	0.087	0.33718	T	10	0.28375262	0.45956	T	0.014205	0.34172	T	0.105	0.29889	0.501	0.59304	0.534046140783	0.53055	0.5953682557770247	0.59466	0.367406353895	0.38303	0.592374622822	0.51829	T	0.268077	0.68828	T	-0.237503	0.15670	T	-0.314505	0.43174	T	0.550842513857724	0.34509	D	0.956404	0.83469	D	0.29476598	0.52432	0.2138049	0.45906	0.29476598	0.52432	0.2138049	0.45905	-8.843	0.66681	D	.	.	0.229	0.48938	B	.;.;.	.;.;.	3.903350	0.56875	23.8	0.99831768275324062	0.91370	0.96344	0.68680	D	AEFDBI	0.417233	0.48536	N	0.0783392100410284	0.45453	2.801615	0.196292630820106	0.49643	3.165079	0.999999899137406	0.74766	0.732398	0.92422	0	0.698795	0.70079	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.51	4.55	0.55429	5.637000	0.67528	6.741000	0.56484	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0742:0.0:0.9258:0.0	13.907	0.63347	12	0.98946	.;.;.	.	.	.	.	.	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	0.02381	1276.98	38	chr16	68074037	.	G	A	1276.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.256;DP=802;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=0.365;SOR=0.693	GT:AD:DP:GQ:PL	0/1:50,50:100:99:1291,0,1275	20	0	1	0
chr16	68828281	68828281	G	C	exonic	CDH1	.	nonsynonymous SNV	CDH1:NM_001317184:exon13:c.G2089C:p.E697Q	Endometrial carcinoma, somatic;Gastric cancer, familial diffuse, with or without cleft lip and/or palate, Autosomal dominant;Ovarian carcinoma, somatic	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	1.0	D	0.000	D	1.000	D	2.63	M	-1.59	D	0.600	D	0.727	D	0.374	4.496	24.1	4.37	1.333	7.712	15.754	0.716	0.089440474657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.113e-06	0.0001	2.729e-06	5.511e-06	5.41e-06	1.48e-06	9.7e-07	1.95e-06	1.28e-06	0	0	0	0	0	0	5.41e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.51248	D	0.062	0.49390	T	1.0	0.90584	D	1.0	0.97372	D	0.000363	0.45194	D	0.000000	0.999999	0.58761	D	2.535	0.73915	M	-1.59	0.82076	D	-2.77	0.58733	D	0.553	0.57860	0.600	0.91895	D	0.727	0.90658	D	10	0.50837284	0.61952	D	0.08944	0.75327	D	0.716	0.89922	0.667	0.80502	0.955453839657	0.95498	0.8589841526515866	0.85861	0.901354855463	0.70653	0.710164666176	0.68617	T	0.596272	0.86994	D	0.110966	0.65452	D	-0.0783812	0.65023	T	0.980278690940645	0.73272	D	0.941806	0.85685	D	0.69648063	0.77865	0.47090107	0.69321	0.69648063	0.77866	0.47090107	0.69321	-9.267	0.72188	D	0.4347497002971249	0.52129	0.957	0.87731	P	.;.;.	.;.;.	5.187613	0.86995	29.1	0.99831881498280306	0.91370	0.95925	0.66748	D	AEFBCI	0.959031	0.97914	D	0.770012994540675	0.84199	8.222184	0.709284939559444	0.83082	7.929737	0.999387407795527	0.39415	0.67177	0.52595	0	0.670034	0.63936	0	0.702456	0.68683	0	0.530356	0.10902	0	.	.	5.35	4.37	0.51830	7.887000	0.85804	11.722000	0.94835	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1371:0.8629:0.0	15.754	0.77777	356	0.85138	Cadherin, cytoplasmic domain;Cadherin, cytoplasmic domain;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1818	186.47	102	chr16	68828281	.	G	C	186.47	.	AC=4;AF=0.182;AN=22;BaseQRankSum=-1.109e+00;DP=2532;ExcessHet=0.6776;FS=194.204;InbreedingCoeff=-0.2767;MLEAC=6;MLEAF=0.273;MQ=60.00;MQRankSum=0.00;QD=0.35;ReadPosRankSum=-3.430e-01;SOR=10.494	GT:AD:DP:GQ:PL	0/1:99,27:126:43:43,0,1846	7	0	4	10
chr16	70128846	70128846	C	T	exonic	PDPR	.	nonsynonymous SNV	PDPR:NM_001322118:exon3:c.C124T:p.R42C	.	.	434	1078	10	0	0	10	0.00461681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	3.455	M	-1.71	D	0.772	D	0.773	D	0.788	3.705	18.82	4.37	1.971	5.371	14.045	0.897	0.118915447535	0.0030	.	0.0052	0.0012	0.0022	0	0.0039	0.0082	0	0.0007	0.0003074	8	26028	rs199978223	0.0029	0.0088	0.0029	0.0029	0.0035	0.0028	0.0028	0.0034	0.0034	0.0006	0.0010	0.0012	5.039e-05	0.0015	0.0026	0.0035	0.0025	0.0003	0.0025	0.0055	0.0028	0.0023	0.0040	0.0023	0.0022	0.0036	0.0034	0.0009	0	0.0021	0.0020	0	0.0024	0.0034	0.0040	0.0038	0.0008	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.425	0.91960	M	-1.71	0.83157	D	-6.77	0.92782	D	0.907	0.94904	0.772	0.94060	D	0.773	0.92279	D	10	0.13158509	0.25043	T	0.118915	0.79908	D	0.897	0.97097	.	.	0.953785314089	0.95329	0.881366352675146	0.88104	1.52708143552	0.87520	0.732797145844	0.71915	T	0.449152	0.84137	T	0.292995	0.82400	D	0.183091	0.82174	D	0.10227920114994	0.12607	T	0.957504	0.83996	D	0.94084775	0.95333	0.7894737	0.87613	0.94084775	0.95334	0.7894737	0.87614	-9.945	0.73582	D	.	.	0.846	0.80063	P	.;.;.	.;.;.	5.834438	0.93752	33	0.99934935317314788	0.99579	0.95877	0.66538	D	AEFGBI	0.656569	0.62851	D	0.754384090607961	0.83190	7.952887	0.638423896273874	0.77752	6.740092	0.241499713014263	0.18576	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.37	4.37	0.51830	5.314000	0.65589	7.544000	0.60141	0.514000	0.23422	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	14.045	0.64223	209	0.91859	FAD dependent oxidoreductase;FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	2048.68	39	chr16	70128846	.	C	T	2048.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.125;DP=1349;ExcessHet=0.3300;FS=0.679;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=35.90;MQRankSum=0.886;QD=3.16;ReadPosRankSum=-2.550e-01;SOR=0.747	GT:AD:DP:GQ:PL	0/1:188,36:224:99:493,0,4922	18	0	3	0
chr16	71977263	71977263	G	C	exonic	PKD1L3	.	nonsynonymous SNV	PKD1L3:NM_181536:exon11:c.C1732G:p.L578V,	.	.	432	1078	12	0	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0055	0.00179712	0.0028	0.0014	0	0	0.0037	0.0045	0.0165	0.0011	0.0010931	169	154602	rs139831076	0.0047	0.0047	0.0048	0.0046	0.0054	0.0046	0.0046	0.0053	0.0052	0.0005	0.0041	0.0027	5.608e-05	0.0033	0.0034	0.0054	0.0043	0.0011	0.0037	0.0037	0.0038	0.0035	0.0061	0.0034	0.0033	0.0056	0.0054	0.0010	0	0.0036	0.0017	0	0.0029	0	0.0061	0.0024	0.0012	.	.	.	0.0	0.92824	D	0.999	0.77913	D	0.991	0.79672	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.307	0.34659	.	.	.	.	.	.	.	0.01028201	0.00229	T	.	.	.	.	.	.	.	0.144782658237	0.14088	0.38083282148693404	0.37998	.	.	0.379869073629	0.22239	T	0.085117	0.37429	T	-0.239699	0.15387	T	-0.11378	0.62309	T	.	.	.	0.510849	0.16306	T	0.10807859	0.25556	0.28520867	0.54523	0.10807859	0.25556	0.28520867	0.54522	-8.603	0.65109	D	.	.	0.208	0.43558	B	.	.	2.638330	0.34320	19.59	0.75063295232350136	0.10931	0.88356	0.48246	D	AEFDI	.	.	.	.	.	.	.	.	.	0.0338628262973798	0.14126	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.058706	0.01089	0	0.623454	0.41225	5.1	4.15	0.47978	2.721000	0.46930	3.660000	0.39404	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.367000	0.26044	0.0895:0.0:0.9105:0.0	11.300	0.48536	91	0.96221	.	.	.	.	.	.	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	0.02381	1638.98	34	chr16	71977263	.	G	C	1638.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.120e+00;DP=886;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.14;ReadPosRankSum=-5.160e-01;SOR=0.652	GT:AD:DP:GQ:PL	0/1:72,63:135:99:1653,0,2010	20	0	1	0
chr16	72058355	72058355	G	A	exonic	HP	.	nonsynonymous SNV	HP:NM_001126102:exon3:c.G190A:p.G64R	.	.	.	.	.	.	.	.	.	0.9996	0.93	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.991	D	0.002	N	1.000	D	1.79	L	0.81	T	-0.701	T	0.220	T	0.476	0.811	8.259	2.52	1.411	4.262	8.595	0.290	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.799e-06	1.045e-05	3.782e-06	0	9.109e-05	0	0	.	.	9.109e-05	0	0	0	0	0	0	0	0	0	2.587e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	0.001888	0.37740	N	0.174046	0.814036	0.81001	D	2.98	0.85499	M	0.81	0.75553	T	-5.23	0.94096	D	0.596	0.81658	-0.7012	0.60381	T	0.220	0.58345	T	10	0.67646116	0.71020	D	0.142111	0.82450	D	0.290	0.60924	0.578	0.70347	0.821408252841	0.81972	0.7772704559283794	0.77677	0.946889859092	0.72443	0.666904628277	0.62397	T	0.837616	0.96183	D	0.077429	0.61738	D	-0.126555	0.61260	T	0.972004175186157	0.69532	D	0.859214	0.55036	D	0.62041813	0.73785	0.30561212	0.56587	0.62041813	0.73787	0.30561212	0.56586	-7.189	0.66661	T	.	.	0.668	0.86545	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.675451	0.92963	33	0.69442887803910702	0.08974	0.90420	0.51581	D	AEFGI	0.571565	0.57550	D	0.25544686910396	0.53908	3.557914	0.0947002964056155	0.44280	2.712969	0.0165400707588921	0.12842	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.52	2.52	0.29514	3.924000	0.56191	10.890000	0.84090	0.479000	0.22080	0.999000	0.42656	1.000000	0.68203	0.013000	0.09966	0.0:0.0:1.0:0.0	8.595	0.32869	173	0.93306	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Serine proteases, trypsin domain|Sushi/SCR/CCP domain;.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1667	48.32	11	chr16	72058355	.	G	A	48.32	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.524;DP=176;ExcessHet=0.2996;FS=0.000;InbreedingCoeff=-0.0497;MLEAC=3;MLEAF=0.250;MQ=39.39;MQRankSum=0.00;QD=2.68;ReadPosRankSum=0.524;SOR=0.255	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:9,4:13:3:.:.:3,0,144	4	0	2	15
chr16	72788017	72788017	T	C	exonic	ZFHX3	.	nonsynonymous SNV	ZFHX3:NM_001164766:exon9:c.A7517G:p.K2506R	.	.	417	1099	6	0	0	6	0.00272232	.	.	797383	not_provided|ZFHX3-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.001	B	0.001	B	0.000	D	1.000	D	1.15	L	-2.25	D	-0.430	T	0.376	T	0.126	1.604	11.32	3.18	0.606	4.102	9.791	0.322	.	0.0046	0.00319489	0.0043	0.0008	0.0019	0	0.0045	0.0068	0.0079	0.0002	0.0044437	687	154602	rs117523752	0.0059	0.0059	0.0061	0.0057	0.0070	0.0058	0.0057	0.0068	0.0068	0.0008	0.0033	0.0025	2.52e-05	0.0046	0.0024	0.0070	0.0050	0.0003	0.0042	0.0042	0.0043	0.0041	0.0071	0.0039	0.0038	0.0066	0.0064	0.0010	0	0.0039	0.0017	0	0.0037	0	0.0071	0.0043	0.0004	0.005	0.63226	D	0.187	0.28764	T	0.001	0.07471	B	0.001	0.04355	B	0.000102	0.50451	D	0.000000	0.999919	0.51042	D	1.87	0.49600	L	-2.25	0.87272	D	-1.15	0.31778	N	0.125	0.11769	-0.4299	0.71070	T	0.376	0.73408	T	10	0.007080674	0.00161	T	.	.	.	0.322	0.64420	.	.	0.128874641272	0.12493	0.07071591449322331	0.07008	0.0763688091822	0.08569	0.541627585888	0.44676	T	0.102888	0.41104	T	-0.393312	0.02561	T	-0.333317	0.41098	T	0.0323492388846104	0.02364	T	0.739826	0.35853	T	0.11991955	0.28228	0.18092273	0.40922	0.11682754	0.27551	0.15798837	0.36915	-5.078	0.37674	T	.	.	0.093	0.14108	B	.;.;.	.;.;.	3.682670	0.52423	23.2	0.89794482354043625	0.19107	0.89509	0.50019	D	AEFDGBCI	.	.	.	-0.224417341581947	0.32133	1.809018	-0.0942826417267529	0.35627	2.063385	0.999999800353153	0.74766	0.493124	0.18060	0	0.587265	0.34161	0	0.503968	0.08637	0	0.627883	0.49187	0	.	.	4.3	3.18	0.35615	4.985000	0.63570	4.953000	0.46294	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0852:0.0:0.9148	9.791	0.39875	191	0.92559	.;.;.	.	.	.	.	rs117523752	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	0.02381	2472.98	41	chr16	72788017	.	T	C	2472.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.920e-01;DP=1055;ExcessHet=0.0000;FS=2.171;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.85;ReadPosRankSum=0.935;SOR=0.864	GT:AD:DP:GQ:PL	0/1:146,105:251:99:2487,0,3831	20	0	1	0
chr16	77825412	77825412	A	C	exonic	VAT1L	.	nonsynonymous SNV	VAT1L:NM_020927:exon3:c.A530C:p.N177T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.915	P	0.23	B	0.000	D	1.000	D	1.99	M	0.9	T	-0.944	T	0.112	T	0.4	4.021	20.6	6.03	2.308	7.515	16.220	0.214	0.0174168549514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.858e-07	6.84e-07	1.364e-06	0	9.007e-07	0	0	.	.	0	0	0	0	0	0	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.009	0.66756	D	0.915	0.50599	P	0.23	0.38212	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.705	0.44259	L	0.9	0.45248	T	-5.05	0.82700	D	0.771	0.76853	-0.9442	0.41944	T	0.112	0.40052	T	10	0.7215656	0.73697	D	0.017417	0.39111	T	0.214	0.50650	0.381	0.39807	0.513958542087	0.51037	0.630029550161172	0.62936	0.198744863821	0.22255	0.627249658108	0.56755	T	0.267394	0.63942	T	-0.0532574	0.43951	T	-0.314277	0.43199	T	0.979408025741577	0.72814	D	0.935306	0.75759	D	0.83954215	0.86576	0.77986926	0.87021	0.83954215	0.86577	0.77986926	0.87022	-8.593	0.65043	D	.	.	0.445	0.61973	A	.	.	4.436697	0.68853	25.3	0.99266519894344651	0.57390	0.98352	0.81910	D	AEFBI	0.928268	0.91221	D	0.532301399299342	0.69012	5.296904	0.613026102636486	0.75885	6.390386	0.999999972685169	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.586402	0.36253	0	.	.	6.03	6.03	0.97798	7.501000	0.80435	9.285000	0.79745	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.220	0.82072	932	0.16191	Polyketide synthase, enoylreductase 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	0.02381	1588.98	34	chr16	77825412	.	A	C	1588.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.000e-03;DP=860;ExcessHet=0.0000;FS=1.391;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=0.640;SOR=0.569	GT:AD:DP:GQ:PL	0/1:72,66:138:99:1603,0,1838	20	0	1	0
chr16	81194982	81194982	G	T	exonic	PKD1L2	.	nonsynonymous SNV	PKD1L2:NM_001076780:exon8:c.C1587A:p.N529K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.775	P	0.436	B	0.067	N	0.803	N	.	.	5.06	T	-1.033	T	0.045	T	0.226	2.161	13.18	1.91	0.503	1.925	5.237	0.018	0.01520188816	.	0.000798722	0.0001	0	0	0.0014	0	0	0	6.059e-05	0.00011	17	154602	rs144732321	4.173e-05	4.173e-05	4.628e-05	3.713e-05	0.0011	3.31e-05	3.001e-05	0.0008	0.0007	0	0	0	0.0011	0	0	1.799e-06	4.967e-05	0.0002	9.2e-05	9.187e-05	5.143e-05	0.0001	0.0023	5.528e-05	4.365e-05	0.0013	0.0010	0	0	0	0	0.0023	0	0	0	0.0005	0.0002	.	.	.	.	.	.	0.775	0.44108	P	0.436	0.45556	B	0.067290	0.21751	N	0.501983	0.999975	0.18612	N	.	.	.	5.06	0.01260	T	-2.31	0.51319	N	0.609	0.62611	-1.0332	0.19427	T	0.045	0.19316	T	9	0.029540092	0.01080	T	0.015202	0.35793	T	0.049	0.13647	0.262	0.20631	0.30921473904	0.30521	.	.	.	.	0.393960654736	0.24226	T	.	.	.	-0.545447	0.00311	T	-0.622394	0.10998	T	0.129012767310662	0.15290	T	0.673433	0.28201	T	.	.	.	.	.	.	.	.	-6.56	0.50747	T	.	.	0.272	0.50609	B	.	.	2.606860	0.33848	19.46	0.99611584845771795	0.74873	0.80670	0.40248	D	AEFDBI	0.147258	0.27089	N	-0.110998358141838	0.36913	2.140224	-0.136540460900127	0.33931	1.946	2.22554692798315E-5	0.03498	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.09	1.91	0.24841	1.620000	0.36586	3.602000	0.39225	0.660000	0.55035	0.978000	0.35038	0.991000	0.31484	0.134000	0.19723	0.1305:0.1142:0.6378:0.1175	5.237	0.14773	952	0.10565	.	.	.	.	.	.	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	0.02381	1444.98	37	chr16	81194982	.	G	T	1444.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.775;DP=870;ExcessHet=0.0000;FS=1.527;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=0.233;SOR=0.524	GT:AD:DP:GQ:PL	0/1:54,57:111:99:1459,0,1311	20	0	1	0
chr16	84031871	84031871	G	C	exonic	SLC38A8	.	nonsynonymous SNV	SLC38A8:NM_001080442:exon5:c.C628G:p.L210V,	Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	703852	not_specified|Inborn_genetic_diseases|not_provided	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.72	T	0.267	B	0.079	B	0.962	N	1.000	N	0.755	N	4.46	T	-0.915	T	0.004	T	0.304	0.266	5.438	1.95	0.622	0.076	5.626	0.010	0.0115007150176	0.0032	0.00259585	0.0007	0.0080	0.0004	0	0	0	0	6.075e-05	0.0007438	115	154602	rs150844985	0.0003	0.0003	0.0003	0.0003	0.0101	0.0003	0.0003	0.0092	0.0088	0.0101	0.0007	0	0	0	0	1.979e-05	0.0006	1.159e-05	0.0030	0.0030	0.0032	0.0027	0.0101	0.0027	0.0026	0.0093	0.0090	0.0101	0	0.0015	0	0	0	0	1.47e-05	0.0024	0	0.298	0.14595	T	0.455	0.13290	T	0.267	0.31683	B	0.079	0.28749	B	0.961848	0.07723	N	1.018260	1	0.08975	N	0.715	0.18665	N	4.46	0.02102	T	-0.3	0.11913	N	0.106	0.09066	-0.9149	0.46233	T	0.004	0.01261	T	10	0.0037952065	0.00071	T	0.011501	0.29187	T	0.010	0.01040	.	.	0.0297737177859	0.01360	0.4746061573655218	0.47379	.	.	0.24438226223	0.03199	T	0.012531	0.11001	T	-0.588497	0.00171	T	-0.608717	0.12089	T	0.00232634529090743	0.00024	T	0.283372	0.04986	T	0.040815856	0.05896	0.03209017	0.01891	0.031682845	0.03053	0.032478876	0.01990	-2.068	0.03449	T	0.0990893563002328	0.07159	0.065	0.01834	B	.;.	.;.	0.058806	0.04704	1.342	0.54843475667351527	0.05219	0.12339	0.17208	N	AEFDBI	0.154318	0.27932	N	-1.08579302513278	0.06905	0.3191828	-1.0920565506793	0.07855	0.3838342	0.0281021541431992	0.13812	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	5.09	1.95	0.25130	0.101000	0.15088	1.133000	0.24342	-0.814000	0.03034	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.2454:0.146:0.6086:0.0	5.626	0.16759	946	0.12043	Amino acid transporter, transmembrane domain;Amino acid transporter, transmembrane domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1006.98	34	chr16	84031871	.	G	C	1006.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.030e-01;DP=811;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.91;ReadPosRankSum=-1.580e-01;SOR=0.676	GT:AD:DP:GQ:PL	0/1:68,45:113:99:1021,0,1711	20	0	1	0
chr16	84063416	84063416	C	G	exonic	MBTPS1	.	nonsynonymous SNV	MBTPS1:NM_003791:exon19:c.G2461C:p.V821L,	.	.	.	.	.	.	.	.	.	.	.	1567957	MBTPS1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.35	T	0.0	B	0.001	B	0.002	N	0.983	D	0.425	N	1.54	T	-1.062	T	0.026	T	0.074	1.403	10.63	2.36	0.335	0.019	4.550	0.034	0.00773975078223	0.0031	0.00299521	0.0008	0.0085	0.0005	0	0	4.504e-05	0	6.07e-05	0.000815	126	154602	rs35417190	0.0004	0.0004	0.0004	0.0003	0.0109	0.0003	0.0003	0.0100	0.0096	0.0109	0.0007	0	0	0	0.0002	7.644e-05	0.0009	1.159e-05	0.0033	0.0033	0.0035	0.0030	0.0109	0.0030	0.0029	0.0101	0.0098	0.0109	0	0.0023	0	0	0	0.0136	2.94e-05	0.0019	0	0.35	0.12305	T	0.372	0.16376	T	0.0	0.02946	B	0.001	0.04355	B	0.002176	0.37095	N	0.294067	0.983105	0.39973	D	0.665	0.16292	N	1.54	0.30133	T	-0.94	0.25118	N	0.307	0.34659	-1.0617	0.11336	T	0.026	0.10954	T	10	0.005384207	0.00118	T	0.00774	0.20536	T	0.034	0.08419	.	.	0.270447802918	0.26645	0.6253496982064026	0.62467	0.0420367595804	0.04521	0.369697272778	0.20788	T	0.249448	0.61941	T	-0.660474	0.00062	T	-0.712106	0.05188	T	0.00303780445370033	0.00032	T	0.839116	0.51273	T	0.048470594	0.08453	0.045169502	0.06017	0.048470594	0.08452	0.045169502	0.06017	-4.942	0.36204	T	.	.	0.084	0.09627	B	.	.	0.822295	0.11937	8.497	0.93265887461013086	0.22962	0.44572	0.27347	N	AEFDGBCI	0.303825	0.41169	N	-0.832087676222166	0.12495	0.6094146	-0.75716434591174	0.15546	0.8181539	0.999883753233449	0.44867	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.723	0.93126	0	.	.	5.44	2.36	0.28258	0.031000	0.13598	-0.097000	0.11987	0.549000	0.26987	0.002000	0.15269	0.000000	0.08366	0.994000	0.71098	0.2657:0.5222:0.0:0.2121	4.550	0.11509	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	0.02381	741.98	34	chr16	84063416	.	C	G	741.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.110e-01;DP=776;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.31;ReadPosRankSum=-8.840e-01;SOR=0.797	GT:AD:DP:GQ:PL	0/1:43,29:72:99:756,0,1210	20	0	1	0
chr16	88681183	88681183	C	T	exonic	SNAI3	.	nonsynonymous SNV	SNAI3:NM_178310:exon2:c.G608A:p.R203H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.855	M	0.33	T	0.031	D	0.443	T	0.556	5.136	32	4.64	2.289	5.438	16.621	0.447	0.177825772802	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1398855399	1.779e-05	1.779e-05	1.906e-05	1.65e-05	0.0003	1.238e-05	1.052e-05	6.099e-05	2.524e-05	0	0	0	2.519e-05	0	0.0003	1.799e-05	4.968e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.275	0.64647	M	0.33	0.58323	T	-4.99	0.82221	D	0.827	0.82257	0.031	0.82868	D	0.443	0.78026	T	10	0.8402941	0.83184	D	0.177826	0.85315	D	0.447	0.74866	0.662	0.79996	0.839593816689	0.83806	.	.	0.479342070191	0.46975	0.740215361118	0.73005	T	0.145651	0.48287	T	-0.0561097	0.43513	T	-0.149246	0.59311	T	0.995508313179016	0.87546	D	0.967253	0.88140	D	0.79160273	0.83373	0.7229096	0.83636	0.79160273	0.83375	0.7229096	0.83637	-10.713	0.78061	D	.	.	0.826	0.78546	P	.	.	5.760958	0.93429	33	0.99942227357740743	0.99824	0.89119	0.49395	D	ALL	0.683013	0.64584	D	0.76215350838089	0.83694	8.084933	0.687189150241627	0.81405	7.519073	1.0	0.98316	0.77792	0.99625	0	0.093493	0.02558	3	0.854111	0.99894	0	0.296957	0.05502	2	.	.	4.64	4.64	0.57399	7.342000	0.78550	7.648000	0.63548	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	16.621	0.84783	824	0.40336	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	687.98	36	chr16	88681183	.	C	T	687.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.910e-01;DP=794;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.82;ReadPosRankSum=-8.680e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:56,32:88:99:702,0,1431	20	0	1	0
chr16	88892449	88892449	T	C	exonic	CBFA2T3	.	nonsynonymous SNV	CBFA2T3:NM_175931:exon3:c.A158G:p.N53S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.081	B	0.17	B	0.008	N	1.000	N	0.895	L	1.42	T	-0.984	T	0.094	T	0.13	-0.273	2.691	-2.16	-0.987	3.001	11.211	0.085	0.0724786828793	.	.	3.356e-05	0	0	0.0001	0	3.065e-05	0	6.098e-05	2.59e-05	4	154602	rs753789675	2.601e-05	2.599e-05	2.996e-05	2.202e-05	0.0003	1.934e-05	1.693e-05	6.094e-05	3.165e-05	2.987e-05	0	0	0.0001	0	0.0003	2.338e-05	1.656e-05	3.478e-05	2.629e-05	2.627e-05	1.285e-05	4.036e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.413e-05	0	0	0	0	0	0	4.41e-05	0	0	0.054	0.38633	T	0.119	0.54541	T	0.081	0.24602	B	0.17	0.35299	B	0.007808	0.31183	N	0.379516	1	0.08975	N	1.245	0.31408	L	1.42	0.53088	T	-2.19	0.72820	N	0.279	0.31590	-0.9843	0.33998	T	0.094	0.35738	T	10	0.078451455	0.12504	T	0.072479	0.71543	D	0.085	0.24743	0.358	0.36060	0.36036328697	0.35645	0.2308127832546865	0.22996	0.0544781243693	0.06022	0.333983361721	0.15534	T	0.518588	0.83122	D	-0.412963	0.01900	T	-0.538821	0.18412	T	0.0426199110744776	0.04169	T	0.876612	0.59457	D	0.05609393	0.10991	0.063465044	0.12575	0.05609393	0.10990	0.063465044	0.12575	-6.335	0.48999	T	.	.	0.057	0.00670	B	.;.;.;.;.;.	.;.;.;.;.;.	0.458500	0.08281	5.028	0.34410047866379428	0.02103	0.78179	0.38533	D	AEFBI	0.314227	0.41915	N	-1.31226269208201	0.03533	0.1580213	-1.32230661833321	0.04143	0.1947952	0.82963020008315	0.24670	0.67177	0.52595	0	0.702456	0.74545	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.27	-2.16	0.06684	2.632000	0.46177	-1.074000	0.06411	-1.490000	0.01045	0.993000	0.37899	0.000000	0.08366	0.000000	0.00833	0.0:0.3484:0.0:0.6516	11.211	0.48028	830	0.39242	.;.;.;.;.;.	.	.	.	.	.	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	0.02381	588.98	37	chr16	88892449	.	T	C	588.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.640e-01;DP=844;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.75;ReadPosRankSum=0.754;SOR=0.693	GT:AD:DP:GQ:PL	0/1:48,28:76:99:603,0,1197	20	0	1	0
chr16	89196011	89196011	G	C	exonic	SLC22A31	.	nonsynonymous SNV	SLC22A31:NM_001384770:exon9:c.C923G:p.P308R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.358e-07	6.84e-07	0	1.497e-06	9.374e-07	0	0	.	.	0	0	0	0	0	0	9.374e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	670.98	33	chr16	89196011	.	G	C	670.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.500e-01;DP=785;ExcessHet=0.0000;FS=2.683;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.91;ReadPosRankSum=-1.860e-01;SOR=1.302	GT:AD:DP:GQ:PL	0/1:18,27:45:99:685,0,423	20	0	1	0
chr16	89284161	89284161	A	G	exonic	ANKRD11	.	nonsynonymous SNV	ANKRD11:NM_001256183:exon9:c.T2381C:p.I794T	KBG syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.0	B	0.001	B	0.473	N	1.000	N	-0.69	N	1.34	T	-1.005	T	0.024	T	0.026	-1.923	0.008	-1.61	-0.189	0.562	1.593	0.018	0.00727015055541	.	.	8.591e-06	0	8.868e-05	0	0	0	0	0	6.5e-06	1	154602	rs759272573	1.377e-06	3.42e-06	1.369e-06	1.386e-06	4.661e-05	2.3e-07	9e-08	7.73e-06	2.89e-06	0	4.661e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.52	0.10465	T	0.0	0.02946	B	0.0	0.01387	B	0.473085	0.12254	N	0.748708	1	0.08975	N	-1.085	0.01025	N	1.34	0.34841	T	1.27	0.00985	N	0.046	0.02088	-1.0048	0.28517	T	0.024	0.10194	T	10	0.016104728	0.00339	T	0.00727	0.19280	T	0.018	0.03083	0.218	0.13932	0.102598925029	0.09809	3.480766670945786E-4	0.00031	0.108005847181	0.12179	0.323267638683	0.13916	T	0.061263	0.31607	T	-0.50949	0.00505	T	-0.78994	0.02166	T	0.0337778290875112	0.02601	T	0.126787	0.01303	T	0.020807045	0.00653	0.037021473	0.03266	0.020807045	0.00653	0.037021473	0.03266	-3.569	0.17410	T	0.0408067304843778	0.00374	0.07	0.06024	B	.;.;.;.	.;.;.;.	-0.089938	0.03702	0.755	0.29245769297825269	0.01541	0.12818	0.17497	N	AEDBI	0.048489	0.08280	N	-1.30269010940199	0.03644	0.1631694	-1.23211650683061	0.05401	0.257258	0.785011936865866	0.23914	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.43	-1.61	0.07951	0.642000	0.24426	0.839000	0.22025	-0.752000	0.03574	0.196000	0.24261	0.001000	0.17328	0.524000	0.29567	0.2653:0.2317:0.3836:0.1193	1.593	0.02498	819	0.41190	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.3529	1077.74	147	chr16	89284161	.	A	G	1077.74	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-2.922e+00;DP=2410;ExcessHet=9.6308;FS=135.155;InbreedingCoeff=-0.4981;MLEAC=14;MLEAF=0.412;MQ=60.00;MQRankSum=0.00;QD=0.73;ReadPosRankSum=0.835;SOR=11.622	GT:AD:DP:GQ:PL	0/1:75,29:104:99:172,0,1758	5	0	12	4
chr16	89771706	89771706	G	A	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon23:c.C2123T:p.T708M	Fanconi anemia, complementation group A, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	1189357	Fanconi_anemia|Fanconi_anemia_complementation_group_A	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.744	P	0.153	B	0.571	N	1.000	N	0	N	-1.85	D	-0.711	T	0.307	T	0.322	2.103	12.99	2.43	0.421	0.777	7.669	0.253	0.16509569533	.	.	4.118e-05	0	0.0002	0	0	0	0	0.0002	3.23e-05	5	154602	rs775960094	2.052e-05	2.052e-05	1.633e-05	2.475e-05	0.0001	1.456e-05	1.264e-05	6.246e-05	4.757e-05	5.974e-05	6.708e-05	0	2.519e-05	0	0	9.892e-06	4.968e-05	0.0001	1.314e-05	1.313e-05	2.57e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.094	0.32453	T	0.051	0.48594	T	0.744	0.43069	P	0.153	0.34292	B	0.571086	0.05480	N	1.281360	1	0.08975	N	0.895	0.22405	L	-1.85	0.84267	D	-1.31	0.32791	N	0.201	0.22228	-0.7110	0.59903	T	0.307	0.67749	T	10	0.210343	0.37426	T	0.165096	0.84405	D	0.253	0.56294	.	.	0.926381392349	0.92563	0.22444683338229854	0.22359	.	.	0.29754036665	0.10035	T	0.178804	0.52958	T	-0.188533	0.22474	T	-0.271923	0.47624	T	0.0506548143746955	0.05614	T	0.735226	0.39759	T	0.025960354	0.01593	0.032917783	0.02102	0.025960354	0.01593	0.032917783	0.02102	-4.136	0.26330	T	0.2483999870984128	0.33633	0.083	0.10449	B	.;.	.;.	1.674894	0.21352	15.16	0.99355197651465954	0.60779	0.13894	0.18111	N	AEFDBI	0.046059	0.07605	N	-0.713118589336418	0.15652	0.7907001	-0.780720900229227	0.14967	0.7848607	0.0290724974712475	0.13867	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.45	2.43	0.28797	0.723000	0.25609	3.037000	0.36065	0.676000	0.76740	0.000000	0.06391	0.286000	0.24137	0.000000	0.00833	0.2056:0.0:0.7944:0.0	7.669	0.27616	671	0.60868	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1674.98	38	chr16	89771706	.	G	A	1674.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.152;DP=890;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.32;ReadPosRankSum=1.37;SOR=0.691	GT:AD:DP:GQ:PL	0/1:65,71:136:99:1689,0,1480	20	0	1	0
chr17	1726031	1726031	A	G	exonic	WDR81	.	nonsynonymous SNV	WDR81:NM_001163809:exon1:c.A1072G:p.S358G,	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, Autosomal recessive	.	0	1519	2	1	0	4	0.00131492	.	.	1018243	Cerebellar_ataxia,_intellectual_disability,_and_dysequilibrium_syndrome_2	MONDO:MONDO:0012430,MedGen:C2750234,OMIM:610185,Orphanet:1766	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	D	.	.	-2.43	D	0.744	D	0.793	D	0.857	4.649	25.5	5.79	2.201	7.240	16.119	0.900	0.723109568991	.	.	0.0005	0	0	0	0	0.0006	0.005	0.0004	0.0001035	16	154602	rs780969097	0.0002	0.0002	0.0002	0.0002	0.0042	0.0002	0.0002	0.0029	0.0025	3.178e-05	0.0001	0.0027	0	0	0.0042	0.0001	0.0005	0.0001	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0002	0.0002	2.405e-05	0	0.0005	0.0029	0	0	0.0034	0.0001	0.0014	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.999992	0.81001	D	3.09	0.87444	M	-2.43	0.88689	D	-3.42	0.67241	D	0.762	0.76019	0.744	0.93724	D	0.793	0.92987	D	6	0.5618299	0.64831	D	0.72311	0.97763	D	0.900	0.97210	.	.	0.854557960048	0.85316	0.8819782548204886	0.88165	1.02735196432	0.75316	0.673586845398	0.63349	T	0.718474	0.92025	D	0.202356	0.74113	D	0.350454	0.90334	D	0.257165381797425	0.23190	T	0.947205	0.79675	D	0.6306216	0.74331	0.7431053	0.84815	0.6306216	0.74333	0.7431053	0.84816	-7.438	0.57172	T	.	.	0.177	0.38587	B	.	.	4.363512	0.67123	25.1	0.99683470767945648	0.79440	0.99194	0.92619	D	AEFDBI	0.944094	0.95075	D	0.459216035549547	0.64729	4.733965	0.547924908352809	0.71251	5.626741	0.999999999999999	0.74766	0.695654	0.57023	0	0.685571	0.66316	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	5.79	5.79	0.91751	7.227000	0.77548	11.281000	0.91737	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	16.119	0.81139	661	0.61838	BEACH domain|BEACH domain|BEACH domain|BEACH 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	0.02381	1082.98	33	chr17	1726031	.	A	G	1082.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.908e+00;DP=849;ExcessHet=0.0000;FS=0.726;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.12;ReadPosRankSum=0.609;SOR=0.791	GT:AD:DP:GQ:PL	0/1:60,47:107:99:1097,0,1639	20	0	1	0
chr17	1727213	1727213	C	T	exonic	WDR81	.	nonsynonymous SNV	WDR81:NM_001163809:exon1:c.C2254T:p.P752S,	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, Autosomal recessive	.	0	1511	9	2	0	13	0.00428336	.	.	727020	Cerebellar_ataxia,_intellectual_disability,_and_dysequilibrium_syndrome_2|not_provided	MONDO:MONDO:0012430,MedGen:C2750234,OMIM:610185,Orphanet:1766|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.67	T	.	.	.	.	.	.	1.000	N	.	.	0.8	T	-1.034	T	0.076	T	0.215	-1.213	0.066	4.61	1.311	1.125	10.161	0.027	0.0124618513485	.	0.000998403	0.0019	0	0	0	0	0.0014	0.0056	0.0031	0.0004916	76	154602	rs200781463	0.0015	0.0014	0.0014	0.0015	0.0054	0.0014	0.0014	0.0039	0.0034	0.0002	0.0010	0.0035	0	0.0008	0.0054	0.0015	0.0014	0.0021	0.0012	0.0012	0.0010	0.0013	0.0029	0.0010	0.0010	0.0018	0.0014	0.0002	0	0.0010	0.0043	0	0.0008	0.0034	0.0016	0.0019	0.0029	0.403	0.10378	T	0.227	0.25362	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.695	0.17993	N	0.8	0.48769	T	-0.34	0.12661	N	0.075	0.04913	-1.0340	0.19173	T	0.076	0.30492	T	6	0.005992919	0.00134	T	0.012462	0.31052	T	0.027	0.05988	.	.	0.446010312102	0.44222	0.1618985332002978	0.16110	0.462113211876	0.45742	0.283152282238	0.07936	T	0.012492	0.10973	T	-0.532944	0.00369	T	-0.54479	0.17829	T	0.0131296711042523	0.00231	T	0.672833	0.28129	T	0.061643362	0.12789	0.0661384	0.13507	0.061643362	0.12789	0.0661384	0.13506	-5.004	0.36883	T	.	.	0.104	0.18828	B	.	.	1.260675	0.16584	12.63	0.70272724247983298	0.09241	0.20108	0.20918	N	AEFBI	0.158121	0.28373	N	-0.346179257426131	0.27413	1.503801	-0.389701120661279	0.25303	1.390671	0.972692414297421	0.29392	0.631515	0.41029	0	0.697927	0.68747	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	5.62	4.61	0.56724	1.170000	0.31493	1.801000	0.28882	0.599000	0.40250	0.001000	0.13787	0.041000	0.21590	0.317000	0.24900	0.1451:0.4879:0.367:0.0	10.161	0.42024	665	0.61472	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	725.98	33	chr17	1727213	.	C	T	725.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.248;DP=1073;ExcessHet=0.0000;FS=2.009;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.23;ReadPosRankSum=0.239;SOR=0.418	GT:AD:DP:GQ:PL	0/1:41,30:71:99:740,0,1021	20	0	1	0
chr17	1786906	1786906	G	C	exonic	SMYD4	.	nonsynonymous SNV	SMYD4:NM_052928:exon7:c.C1788G:p.D596E,	.	.	424	1097	0	1	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.003	B	0.004	B	0.000	D	0.934	N	1.655	L	-1.29	T	-0.885	T	0.295	T	0.097	0.156	4.841	2.82	0.390	1.178	4.696	0.203	0.0109601081874	.	.	1.651e-05	0	0	0	0	3.002e-05	0	0	1.29e-05	2	154602	rs746019087	1.026e-05	1.026e-05	6.806e-06	1.375e-05	0.0003	6.16e-06	4.89e-06	6.109e-05	2.528e-05	0	0	0	0	0	0.0003	1.079e-05	1.656e-05	0	6.568e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.004	0.10090	B	0.000152	0.49130	D	0.213339	0.933882	0.26984	N	1.585	0.39878	L	-1.29	0.79475	T	-0.3	0.11913	N	0.143	0.14338	-0.8850	0.49357	T	0.295	0.66697	T	10	0.20033246	0.36076	T	0.01096	0.28083	T	0.203	0.48915	0.341	0.33302	0.793109212194	0.79118	0.3809480712743575	0.38009	0.0728183001178	0.08157	0.404150485992	0.25646	T	0.003175	0.02576	T	-0.167355	0.25636	T	-0.414524	0.31706	T	0.0525913871824741	0.05949	T	0.645735	0.25721	T	0.024497436	0.01287	0.028638419	0.01119	0.024497436	0.01287	0.028638419	0.01119	-2.26	0.04341	T	.	.	0.168	0.39029	B	.;.	.;.	1.650798	0.21061	15.03	0.61781651251085146	0.06795	0.73313	0.35863	D	AEFBI	0.102966	0.20641	N	-0.337134477748815	0.27747	1.524896	-0.18510607971015	0.32082	1.821814	0.993042843145193	0.33063	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.692231	0.68500	0	.	.	5.93	2.82	0.32061	1.534000	0.35656	4.588000	0.43946	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0712:0.1242:0.4513:0.3533	4.696	0.12184	632	0.64850	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1596.98	34	chr17	1786906	.	G	C	1596.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.612;DP=866;ExcessHet=0.0000;FS=1.975;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.86;ReadPosRankSum=-7.660e-01;SOR=0.638	GT:AD:DP:GQ:PL	0/1:92,70:162:99:1611,0,2195	20	0	1	0
chr17	4933907	4933923	ACCACCCCAGAGCCCAC	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	.	625	661	31	11	194	247	0.0385455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	36673.09	217	chr17	4933907	.	ACCACCCCAGAGCCCAC	A,*	36673.09	.	AC=11,22;AF=0.262,0.524;AN=42;BaseQRankSum=-2.218e+00;DP=3857;ExcessHet=0.9430;FS=0.000;InbreedingCoeff=0.0101;MLEAC=11,22;MLEAF=0.262,0.524;MQ=59.64;MQRankSum=0.207;QD=13.33;ReadPosRankSum=0.579;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:2,0,134:136:99:.:.:4665,4884,5796,377,479,0	1	2	3	0
chr17	4933915	4933915	A	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	.	1045	137	36	84	220	424	0.426778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	3830.01	217	chr17	4933915	.	A	*,G	3830.01	.	AC=30,4;AF=0.750,0.100;AN=40;BaseQRankSum=1.91;DP=3710;ExcessHet=0.5418;FS=1.062;InbreedingCoeff=-0.0551;MLEAC=31,4;MLEAF=0.775,0.100;MQ=59.65;MQRankSum=0.00;QD=1.56;ReadPosRankSum=0.309;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:2,134,0:136:99:.:.:4665,377,0,4884,479,5796	0	10	6	1
chr17	5003999	5003999	A	C	exonic	KIF1C	.	nonsynonymous SNV	KIF1C:NM_006612:exon11:c.A866C:p.Q289P,	Spastic ataxia 2, autosomal recessive, Autosomal recessive	.	419	1095	8	0	0	8	0.00363967	0.8663	0.626	413453	Spastic_ataxia_2|not_provided|Hereditary_spastic_paraplegia	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302,Orphanet:397946|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.968	D	0.954	D	.	.	1.000	D	1.33	L	-2.4	D	0.594	D	0.736	D	0.689	3.441	17.64	5.66	2.292	6.978	14.148	0.742	0.252099349353	0.0017	0.000599042	0.0012	9.612e-05	0.0003	0	0.0014	0.0019	0.0011	0.0008	0.0010931	169	154602	rs146872023	0.0014	0.0014	0.0014	0.0015	0.0038	0.0014	0.0014	0.0026	0.0022	8.963e-05	0.0003	0.0004	0	0.0006	0.0038	0.0017	0.0012	0.0008	0.0010	0.0011	0.0012	0.0009	0.0020	0.0009	0.0009	0.0017	0.0016	0.0001	0	0.0005	0	0	0.0006	0	0.0020	0.0009	0.0004	0.008	0.58626	D	0.027	0.55341	D	0.968	0.56581	D	0.954	0.69447	D	.	.	.	.	0.999976	0.53665	D	1.935	0.51832	L	-2.4	0.88455	D	-1.96	0.45404	N	0.309	0.34874	0.594	0.91816	D	0.736	0.90966	D	9	0.05489394	0.05915	T	0.252099	0.89158	D	0.742	0.91069	.	.	0.906485554669	0.90554	0.6530642631107064	0.65242	1.02858067895	0.75351	0.691312730312	0.65895	T	0.352681	0.72009	T	-0.120594	0.33026	T	0.0493828	0.73543	D	0.0683233118103087	0.08414	T	0.941606	0.78180	D	0.47949785	0.65870	0.5041443	0.71338	0.47949785	0.65870	0.5041443	0.71338	-3.778	0.20476	T	.	.	0.069	0.02960	B	.	.	4.560608	0.71867	25.7	0.99251680997989944	0.56891	0.99788	0.99470	D	AEFBI	0.958106	0.97769	D	0.673353446299839	0.77888	6.762032	0.692715948714318	0.81826	7.618182	0.999837813979633	0.43792	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	4.026000	0.56942	11.181000	0.88313	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.849000	0.40138	1.0:0.0:0.0:0.0	14.148	0.64899	576	0.70006	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1611.98	34	chr17	5003999	.	A	C	1611.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.730e-01;DP=874;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=-1.788e+00;SOR=0.696	GT:AD:DP:GQ:PL	0/1:70,66:136:99:1626,0,1822	20	0	1	0
chr17	5183242	5183242	G	A	exonic	ZNF594	.	nonsynonymous SNV	ZNF594:NM_032530:exon2:c.C1015T:p.L339F,	.	.	412	1097	13	0	0	13	0.00589035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.93	P	0.353	B	.	.	1.000	N	1.37	L	2.38	T	-1.055	T	0.025	T	0.261	-0.184	3.106	2.5	1.409	-1.026	7.294	0.030	0.00243117537039	0.0060	0.00219649	0.0053	0.0013	0.0025	0.0003	0.0015	0.0081	0	0.0025	0.0051552	797	154602	rs61750938	0.0073	0.0073	0.0075	0.0072	0.0088	0.0072	0.0072	0.0087	0.0086	0.0015	0.0034	0.0031	5.038e-05	0.0010	0.0085	0.0088	0.0058	0.0022	0.0054	0.0054	0.0057	0.0051	0.0095	0.0051	0.0050	0.0089	0.0086	0.0013	0	0.0051	0.0037	0	0.0006	0	0.0095	0.0057	0.0027	0.309	0.14064	T	0.247	0.23914	T	0.93	0.51791	P	0.353	0.42910	B	.	.	.	.	1	0.08975	N	1.46	0.36832	L	2.38	0.15843	T	-0.99	0.26200	N	0.151	0.15469	-1.0554	0.12934	T	0.025	0.10598	T	9	0.0057618916	0.00128	T	0.002431	0.04785	T	0.030	0.07022	.	.	0.218845423259	0.21516	0.006891149584749604	0.00656	0.081165264027	0.09130	0.304148554802	0.11023	T	0.004572	0.03978	T	-0.609498	0.00128	T	-0.636601	0.09919	T	0.00434465226521206	0.00046	T	0.0162984	0.00091	T	0.041578457	0.06149	0.045703884	0.06207	0.041578457	0.06148	0.045703884	0.06207	-7.403	0.56926	T	.	.	0.135	0.31583	B	.;.	.;.	1.363813	0.17728	13.34	0.98181404821705798	0.38950	0.00002	0.00064	N	AEFDBHCI	0.057530	0.10724	N	-0.488097212630782	0.22471	1.200061	-0.672584434552808	0.17648	0.9393181	0.00387237941805737	0.10318	0.660377	0.49826	0	0.694456	0.67091	0	0.696353	0.63694	0	0.655142	0.61905	0	.	.	2.5	2.5	0.29355	-2.846000	0.00803	-0.918000	0.06929	-0.126000	0.13398	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2769:0.7231:0.0	7.294	0.25557	523	0.74147	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2310.98	90	chr17	5183242	.	G	A	2310.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.21;DP=1355;ExcessHet=0.0000;FS=4.349;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=0.628;SOR=1.031	GT:AD:DP:GQ:PL	0/1:95,87:182:99:2325,0,2491	20	0	1	0
chr17	5541870	5541870	G	C	exonic	NLRP1	.	nonsynonymous SNV	NLRP1:NM_001033053:exon6:c.C2686G:p.L896V	Autoinflammation with arthritis and dyskeratosis, Autosomal recessive, Autosomal dominant;Palmoplantar carcinoma, multiple self-healing	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.879	P	0.36	B	0.360	N	1.000	N	2.51	M	-1.08	T	-0.571	T	0.370	T	0.34	0.852	8.446	1.02	0.433	1.392	4.227	0.291	0.00742752607342	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs774057957	1.368e-06	1.368e-06	1.361e-06	1.375e-06	8.993e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.46513	D	0.01	0.69154	D	0.802	0.45105	P	0.273	0.40007	B	0.359967	0.13685	N	0.466272	1	0.08975	N	.	.	.	-1.08	0.77078	T	-1.69	0.52776	N	0.128	0.26957	-0.5710	0.65975	T	0.370	0.72932	T	10	0.14983436	0.28350	T	0.007428	0.19712	T	0.291	0.61040	0.334	0.32167	0.77106490448	0.76897	0.19906805625952317	0.19823	0.592960253697	0.54662	0.349057018757	0.17784	T	0.03398	0.23137	T	-0.0103817	0.50212	T	-0.252689	0.49552	T	0.465694636106491	0.31374	T	0.80472	0.55722	T	0.22760718	0.45465	0.095892705	0.22761	0.22760718	0.45465	0.095892705	0.22760	-6.372	0.49291	T	0.6857463462889624	0.76277	0.204	0.53119	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.437240	0.47799	22.5	0.98617583347695204	0.43731	0.19384	0.20640	N	ALL	0.039998	0.05887	N	-0.426612934831294	0.24539	1.325765	-0.635833613058023	0.18574	0.9928822	0.999999619383746	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.658952	0.52864	0	0.714379	0.83352	0	.	.	2.01	1.02	0.19102	0.524000	0.22648	0.840000	0.22034	0.672000	0.70159	0.015000	0.19116	0.063000	0.22074	0.006000	0.07323	0.2096:0.0:0.7904:0.0	4.227	0.10041	689	0.59000	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	912.98	35	chr17	5541870	.	G	C	912.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.541;DP=777;ExcessHet=0.0000;FS=1.876;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=0.515;SOR=0.984	GT:AD:DP:GQ:PL	0/1:40,37:77:99:927,0,954	20	0	1	0
chr17	6800774	6800774	A	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.T1022C:p.V341A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.897	P	0.896	P	0.001	D	0.599	N	2.7	M	3.44	T	-1.048	T	0.058	T	0.541	4.460	23.8	4.74	2.367	4.854	10.663	0.211	0.0136532063299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.302e-05	0.0002	1.364e-05	1.24e-05	1.712e-05	8.33e-06	6.71e-06	1.095e-05	8.82e-06	0	0	0	0	0	0	1.712e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	0.897	0.49385	P	0.896	0.63555	P	0.000902	0.41128	D	0.246339	0.598701	0.30959	N	3.065	0.87014	M	3.44	0.05375	T	-3.88	0.72710	D	0.469	0.50508	-1.0481	0.14932	T	0.058	0.24317	T	10	0.85543704	0.84738	D	0.013653	0.33213	T	0.211	0.50185	0.815	0.92992	0.302793454619	0.29890	0.5381300802551101	0.53738	0.48517630844	0.47408	0.480688631535	0.36152	T	0.058801	0.30942	T	-0.0754763	0.40446	T	-0.346193	0.39641	T	0.990202784538269	0.80421	D	0.738526	0.35642	T	0.46101037	0.64733	0.5876386	0.76081	0.46101037	0.64734	0.5876386	0.76082	-6.018	0.46431	T	.	.	0.254	0.48918	B	.	.	4.284510	0.65289	24.8	0.99846874401452357	0.92663	0.88134	0.47929	D	AEFDBHCI	0.414490	0.48374	N	0.641969214612071	0.75852	6.379411	0.598680606811418	0.74844	6.206881	0.999992332852905	0.74766	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	4.74	0.59717	4.977000	0.63509	6.831000	0.56692	0.756000	0.94297	1.000000	0.71638	0.896000	0.27899	0.988000	0.63387	0.9208:0.0:0.0792:0.0	10.663	0.44909	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	76.33	121	chr17	6800774	.	A	G	76.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-3.173e+00;DP=1972;ExcessHet=0.0000;FS=131.242;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=0.48;ReadPosRankSum=1.70;SOR=7.701	GT:AD:DP:GQ:PL	0/1:131,29:160:90:90,0,4243	19	0	1	1
chr17	6800775	6800775	C	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1021C:p.V341L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.554	P	0.802	P	0.001	D	0.604	N	2.585	M	3.56	T	-1.117	T	0.046	T	0.639	4.235	22.0	2.75	0.471	1.653	10.030	0.254	0.0148905317491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.74e-06	0.0001	2.726e-06	2.755e-06	3.602e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.01	0.65728	D	0.554	0.38213	P	0.802	0.58266	P	0.000902	0.41128	D	0.246339	0.603536	0.30920	N	3.065	0.87014	M	3.56	0.04696	T	-2.86	0.60188	D	0.591	0.61087	-1.1171	0.02524	T	0.046	0.19879	T	10	0.87548256	0.86836	D	0.014891	0.35296	T	0.254	0.56428	0.784	0.90768	0.246773566709	0.24272	0.5436249433425214	0.54288	0.388407156696	0.40106	0.465720266104	0.34094	T	0.063408	0.32168	T	-0.0577574	0.43257	T	-0.320741	0.42493	T	0.98490309715271	0.76061	D	0.841416	0.51702	T	0.3524521	0.57257	0.4248366	0.66311	0.3524521	0.57257	0.4248366	0.66311	-7.213	0.55575	T	.	.	0.280	0.51350	B	.	.	3.041864	0.40780	21.2	0.99569122627841022	0.72258	0.87246	0.46727	D	AEFDBHCI	0.189729	0.31698	N	0.250775222256954	0.53677	3.535585	0.210393057645656	0.50423	3.234527	0.999881703001044	0.44867	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.75	0.31439	1.756000	0.38018	-0.111000	0.11829	0.599000	0.40250	1.000000	0.71638	0.151000	0.23179	0.983000	0.59808	0.0:0.7763:0.0:0.2237	10.030	0.41269	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3235	3330.64	69	chr17	6800775	.	C	G,T	3330.64	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=-2.445e+00;DP=2964;ExcessHet=7.7275;FS=201.373;InbreedingCoeff=-0.4528;MLEAC=11,1;MLEAF=0.324,0.029;MQ=60.00;MQRankSum=0.00;QD=2.01;ReadPosRankSum=1.28;SOR=12.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:107,15,12:148:99:.:.:267,0,4087,346,2822,3121	6	0	10	4
chr17	6800775	6800775	C	T	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1021A:p.V341I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.112	B	0.341	B	0.001	N	0.837	N	1.89	L	3.53	T	-1.084	T	0.031	T	0.091	3.174	16.62	2.75	0.471	1.653	10.030	0.067	0.00715835594955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.081	0.41742	T	0.112	0.26290	B	0.341	0.42432	B	0.000902	0.41128	N	0.246339	0.836835	0.28685	N	2.085	0.57729	M	3.53	0.04852	T	-0.93	0.24898	N	0.185	0.20129	-1.0839	0.06609	T	0.031	0.13199	T	10	0.22078857	0.38785	T	0.007158	0.18979	T	0.067	0.19503	0.712	0.84781	0.148003135375	0.14442	0.3112784524375874	0.31040	0.154972287805	0.17502	0.400090247393	0.25082	T	0.025988	0.19322	T	-0.29632	0.09012	T	-0.663419	0.08038	T	0.66377192735672	0.39061	D	0.726327	0.34071	T	0.10866317	0.25691	0.13250326	0.31794	0.10866317	0.25691	0.13250326	0.31794	-5.762	0.44242	T	.	.	0.090	0.12512	B	.	.	2.315459	0.29642	18.19	0.99362639271959785	0.61071	0.80189	0.39893	D	AEFDBHCI	0.113020	0.22317	N	-0.0799309812297689	0.38272	2.239086	-0.0159644293184332	0.38992	2.305383	0.999881703001044	0.44867	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.75	0.31439	1.756000	0.38018	-0.111000	0.11829	0.599000	0.40250	1.000000	0.71638	0.151000	0.23179	0.983000	0.59808	0.0:0.7763:0.0:0.2237	10.030	0.41269	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3235	3330.64	69	chr17	6800775	.	C	G,T	3330.64	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=-2.445e+00;DP=2964;ExcessHet=7.7275;FS=201.373;InbreedingCoeff=-0.4528;MLEAC=11,1;MLEAF=0.324,0.029;MQ=60.00;MQRankSum=0.00;QD=2.01;ReadPosRankSum=1.28;SOR=12.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:107,15,12:148:99:.:.:267,0,4087,346,2822,3121	6	0	10	4
chr17	6800776	6800776	C	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1020C:p.E340D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	0.994	D	3.515	H	2.96	T	-0.982	T	0.107	T	0.857	4.089	21.0	2.8	0.492	1.521	8.074	0.326	0.028278372682	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	D	0.098481	0.983136	0.42247	D	3.525	0.93020	H	2.96	0.09542	T	-2.88	0.60507	D	0.808	0.80375	-0.9824	0.34445	T	0.107	0.39051	T	10	0.95349437	0.94696	D	0.028278	0.50978	D	0.326	0.64826	0.877	0.96683	0.497481867153	0.49385	0.6113345721572323	0.61065	0.419681481569	0.42513	0.529784560204	0.43004	T	0.202368	0.56052	T	0.124774	0.66848	D	-0.0585471	0.66434	T	0.995554625988007	0.87638	D	0.840516	0.51562	T	0.7195699	0.79137	0.5731973	0.75279	0.7195699	0.79139	0.5731973	0.75280	-8.963	0.67458	D	.	.	0.829	0.78671	P	.	.	3.572194	0.50313	22.9	0.9983085278040047	0.91284	0.84486	0.43568	D	AEFDBHCI	0.220516	0.34526	N	0.55574673951639	0.70432	5.500766	0.423949101341838	0.63059	4.532556	0.999819604160299	0.43459	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.8	0.31881	1.605000	0.36426	0.787000	0.21533	0.599000	0.40250	1.000000	0.71638	0.338000	0.24408	0.976000	0.56436	0.0:0.6876:0.0:0.3124	8.074	0.29869	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1944	1543.06	69	chr17	6800776	.	C	G,T	1543.06	.	AC=4,3;AF=0.111,0.083;AN=36;BaseQRankSum=-3.449e+00;DP=2429;ExcessHet=2.5830;FS=177.172;InbreedingCoeff=-0.2591;MLEAC=4,3;MLEAF=0.111,0.083;MQ=60.00;MQRankSum=0.00;QD=1.70;ReadPosRankSum=0.492;SOR=11.197	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:107,33,0:154:99:.:.:443,0,2665,681,3005,4558	11	0	4	3
chr17	7107899	7107899	C	T	exonic	ASGR2	.	nonsynonymous SNV	ASGR2:NM_080914:exon4:c.G304A:p.V102M	.	.	414	1104	4	0	0	4	0.00180832	.	.	2680172	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.18	T	0.994	D	0.669	P	0.069	N	1.000	N	0.695	N	1.96	T	-1.055	T	0.047	T	0.251	0.727	7.866	-2.43	-0.444	-1.707	4.122	0.024	0.00450255090449	7.7e-05	.	0.0002	0	8.741e-05	0	0	0.0003	0	0.0002	0.000194	30	154602	rs377144273	0.0002	0.0002	0.0001	0.0002	0.0014	0.0001	0.0001	0.0007	0.0005	2.987e-05	0	0	0	5.619e-05	0.0014	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	0.0002	9.749e-05	8.262e-05	0.0001	0.0001	2.414e-05	0	6.545e-05	0	0	9.414e-05	0	0.0002	0.0010	0.0002	0.144	0.25255	T	0.252	0.26549	T	0.386	0.66517	B	0.163	0.53077	B	0.069015	0.02228	N	2.226240	1	0.08975	N	1.27	0.32069	L	1.96	0.22270	T	-0.08	0.08187	N	0.185	0.26111	-1.0553	0.12961	T	0.047	0.20077	T	10	0.048068672	0.04208	T	0.004503	0.11063	T	0.024	0.04979	.	.	0.128392430309	0.12331	0.17925149635371926	0.17844	.	.	0.316328406334	0.12864	T	0.030579	0.21645	T	-0.477742	0.00763	T	-0.61164	0.11852	T	0.0146981694260332	0.00306	T	0.586341	0.23205	T	0.030297419	0.02669	0.0405138	0.04396	0.030297419	0.02668	0.0405138	0.04395	-4.154	0.26082	T	.	.	0.083	0.09191	B	.;.;.;.	.;.;.;.	0.164952	0.05550	2.008	0.91468011108736069	0.20739	0.02131	0.06287	N	AEFDBHCI	0.106676	0.21277	N	-1.10803160412234	0.06500	0.2993621	-1.25308368317263	0.05086	0.2414784	0.924664808962414	0.26787	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.46	-2.43	0.06145	-1.233000	0.03043	-4.372000	0.02191	-0.187000	0.09635	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3332:0.1853:0.4815	4.122	0.09582	349	0.85513	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1086.98	34	chr17	7107899	.	C	T	1086.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.85;DP=904;ExcessHet=0.0000;FS=0.845;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.76;ReadPosRankSum=0.290;SOR=0.836	GT:AD:DP:GQ:PL	0/1:36,43:79:99:1101,0,776	20	0	1	0
chr17	7224811	7224811	C	T	exonic	ACADVL	.	nonsynonymous SNV	ACADVL:NM_001033859:exon18:c.C1688T:p.A563V	VLCAD deficiency, Autosomal recessive	.	1	1517	4	0	0	4	0.00131666	.	.	271751	Inborn_genetic_diseases|not_provided|Very_long_chain_acyl-CoA_dehydrogenase_deficiency	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475,Orphanet:26793	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.825	P	0.000	D	1.000	D	2.945	M	-2.65	D	0.868	D	0.847	D	0.837	2.656	14.84	5.84	2.769	4.771	17.637	0.741	0.486986550879	0.0002	.	0.0001	0	0	0	0	0.0002	0	0.0002	0.0001035	16	154602	rs374729641	5.473e-05	5.472e-05	4.356e-05	6.601e-05	0.0009	4.477e-05	4.147e-05	0.0003	0.0002	0	0	0	0	0	0.0009	5.665e-05	0.0001	5.797e-05	4.601e-05	4.597e-05	5.14e-05	4.036e-05	7.35e-05	2.11e-05	1.527e-05	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.35e-05	0.0010	0	0.031	0.72154	D	0.051	0.47828	T	0.999	0.77913	D	0.786	0.59331	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.195	0.89043	M	-2.65	0.90210	D	-3.36	0.66549	D	0.812	0.88687	0.868	0.95255	D	0.847	0.94881	D	10	0.86269426	0.85497	D	0.486987	0.94936	D	0.741	0.91026	.	.	0.959718224107	0.95929	0.837374548974522	0.83697	0.720505066772	0.62184	0.627425074577	0.56780	T	0.671795	0.90267	D	0.200081	0.73898	D	0.297935	0.88102	D	0.517556488513947	0.33275	D	0.949755	0.82399	D	0.7697326	0.82032	0.55277026	0.74138	0.7697326	0.82033	0.55277026	0.74139	-8.35	0.63431	D	0.2828809246285287	0.37845	0.298	0.54257	B	.;.;.	.;.;.	5.210183	0.87424	29.2	0.98081697043574811	0.38110	0.89648	0.50247	D	AEFDBHCI	0.834673	0.75270	D	0.792555584886604	0.85637	8.635958	0.763813559880839	0.87188	9.135868	0.999999999999999	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.84	5.84	0.93373	6.508000	0.73632	7.618000	0.62188	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:1.0:0.0:0.0	17.637	0.88028	367	0.84523	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	629.98	39	chr17	7224811	.	C	T	629.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.351e+00;DP=838;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=2.28;SOR=0.562	GT:AD:DP:GQ:PL	0/1:28,28:56:99:644,0,753	20	0	1	0
chr17	7846865	7846865	-	ACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACC:p.P264_L265insPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,67,0,0,0,0:67:99:2996,200,0,2997,202,2999,2997,202,2999,2999,2997,202,2999,2999,2999,2997,202,2999,2999,2999,2999	0	14	0	0
chr17	7846865	7846865	-	ACCACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACCACC:p.P264_L265insPPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,67,0,0,0,0:67:99:2996,200,0,2997,202,2999,2997,202,2999,2999,2997,202,2999,2999,2999,2997,202,2999,2999,2999,2999	0	14	0	0
chr17	7846865	7846865	-	ACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACC:p.P264_L265insP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,67,0,0,0,0:67:99:2996,200,0,2997,202,2999,2997,202,2999,2999,2997,202,2999,2999,2999,2997,202,2999,2999,2999,2999	0	14	0	0
chr17	7846865	7846865	-	ACCACCACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACCACCACC:p.P264_L265insPPPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/1:0,67,0,0,0,0:67:99:2996,200,0,2997,202,2999,2997,202,2999,2999,2997,202,2999,2999,2999,2997,202,2999,2999,2999,2999	0	14	0	0
chr17	8741656	8741656	G	A	exonic	CCDC42	.	nonsynonymous SNV	CCDC42:NM_001158261:exon4:c.C310T:p.R104W	.	.	423	1091	7	1	0	9	0.00410771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	0.885	N	2.305	M	1.98	T	-0.953	T	0.119	T	0.863	3.483	17.82	2.94	1.170	1.714	8.812	0.229	.	0.0007	0.00299521	0.0019	0.0005	0.0011	0	0.0007	0.0014	0.0035	0.0061	0.0016106	249	154602	rs146567497	0.0015	0.0015	0.0013	0.0017	0.0076	0.0015	0.0014	0.0057	0.0050	0.0002	0.0008	3.826e-05	0.0004	0.0001	0.0076	0.0014	0.0018	0.0053	0.0011	0.0011	0.0010	0.0011	0.0048	0.0009	0.0009	0.0033	0.0028	0.0003	0	0.0015	0	0.0004	0.0006	0.0034	0.0013	0.0009	0.0048	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000047	0.53742	D	0.000000	0.885097	0.35831	D	2.74	0.80084	M	1.98	0.21865	T	-6.75	0.94702	D	0.742	0.77601	-0.9527	0.40503	T	0.119	0.41669	T	10	0.019927323	0.00451	T	.	.	.	0.229	0.52916	.	.	0.388334884743	0.38444	0.7451929518854102	0.74465	0.955501152494	0.72796	0.664970397949	0.62120	T	0.184985	0.53782	T	-0.112991	0.34275	T	0.0665618	0.74681	D	0.0784824301286375	0.09792	T	0.862614	0.55818	D	0.95875853	0.97155	0.95788467	0.98856	0.95875853	0.97155	0.95788467	0.98857	-8.582	0.64970	D	.	.	0.139	0.32493	B	.;.	.;.	4.850917	0.79284	27.1	0.99896187294927907	0.96895	0.82067	0.41353	D	AEFDBI	0.237619	0.35988	N	0.475146617279002	0.65644	4.848335	0.39844940776916	0.61470	4.34742	3.20119509031347E-5	0.03775	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.16	2.94	0.33188	1.039000	0.29876	4.076000	0.41702	0.618000	0.50648	0.820000	0.29989	1.000000	0.68203	0.961000	0.51904	0.0867:0.0:0.6901:0.2232	8.812	0.34128	793	0.45818	Domain of unknown function DUF4200;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1263.98	38	chr17	8741656	.	G	A	1263.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.939;DP=820;ExcessHet=0.0000;FS=0.743;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.04;ReadPosRankSum=1.32;SOR=0.822	GT:AD:DP:GQ:PL	0/1:53,52:105:99:1278,0,1242	20	0	1	0
chr17	8797460	8797460	G	A	exonic	MFSD6L	.	nonsynonymous SNV	MFSD6L:NM_152599:exon1:c.C1661T:p.S554L,	.	.	423	1078	19	2	0	23	0.0105553	.	.	1222401	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.99	D	0.000	D	0.000	P	2.045	M	-3.67	D	-0.400	T	0.210	T	0.598	3.468	17.76	5.03	2.614	8.692	17.306	0.776	.	0.0027	0.0353435	0.0166	0.0013	0.0014	0.0853	0.0003	0.0030	0.0167	0.0643	0.0151874	2348	154602	rs74899363	0.0093	0.0093	0.0076	0.0110	0.0960	0.0092	0.0091	0.0935	0.0925	0.0008	0.0013	0.0119	0.0960	0.0001	0.0055	0.0028	0.0120	0.0642	0.0074	0.0074	0.0062	0.0086	0.0910	0.0070	0.0069	0.0842	0.0816	0.0010	0	0.0024	0.0133	0.0910	0	0.0034	0.0027	0.0057	0.0684	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.99	0.78936	D	0.000005	0.62929	D	0.000000	8.77062e-07	0.58761	P	2.865	0.83145	M	-3.67	0.95247	D	-3.46	0.67705	D	0.206	0.22870	-0.4002	0.72020	T	0.210	0.56973	T	9	0.008387089	0.00190	T	.	.	.	0.776	0.92501	.	.	.	.	0.33468370261142605	0.33381	0.433029098723	0.43471	0.449397563934	0.31862	T	0.193194	0.54858	T	-0.114371	0.34047	T	0.14979	0.80171	D	0.0235531200911232	0.01090	T	0.69643	0.30590	T	0.6479231	0.75253	0.55815005	0.74439	0.6479231	0.75254	0.55815005	0.74440	-8.647	0.65398	D	.	.	0.176	0.38516	B	.	.	4.447680	0.69110	25.3	0.99906706232731657	0.97726	0.96231	0.68139	D	AEFDBCI	0.896745	0.83813	D	0.680308490086659	0.78343	6.852232	0.612556857862348	0.75850	6.384225	0.999994391301051	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.49644	0.08281	0	0.542086	0.14980	0	.	.	5.03	5.03	0.67015	8.876000	0.92010	6.301000	0.55413	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.615000	0.31768	0.0:0.0:1.0:0.0	17.306	0.87082	803	0.44167	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	7131.68	34	chr17	8797460	.	G	A	7131.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.978;DP=1155;ExcessHet=0.3300;FS=1.731;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=-4.510e-01;SOR=0.644	GT:AD:DP:GQ:PL	0/1:80,86:166:99:2145,0,1930	18	0	3	0
chr17	9182936	9182936	A	C	exonic	NTN1	.	nonsynonymous SNV	NTN1:NM_004822:exon5:c.A1378C:p.T460P,	.	.	433	1084	5	0	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.001	B	0.003	B	0.000	D	1.000	D	1.175	L	2.81	T	-1.091	T	0.075	T	0.408	1.051	9.291	5.83	2.227	4.332	13.246	0.102	0.0207379173832	.	0.000798722	0.0004	9.612e-05	0.0002	0	0	0.0001	0	0.0022	0.0003687	57	154602	rs541757843	0.0002	0.0002	0.0001	0.0003	0.0020	0.0002	0.0002	0.0017	0.0017	0.0002	0.0001	0	0.0001	3.745e-05	0.0014	8.094e-05	0.0002	0.0020	0.0001	0.0001	0.0001	0.0002	0.0031	9.753e-05	8.266e-05	0.0019	0.0016	7.232e-05	0	6.544e-05	0	0	0	0	2.942e-05	0.0005	0.0031	0.229	0.41637	T	0.154	0.32040	T	0.001	0.07471	B	0.003	0.08700	B	0.000004	0.62929	D	0.103387	0.999823	0.49512	D	1.15	0.29295	L	1.31	0.35405	T	-0.77	0.40660	N	0.354	0.39558	-1.0915	0.05286	T	0.075	0.30117	T	10	0.0116015375	0.00253	T	0.020738	0.43393	T	0.102	0.29158	.	.	0.365317461125	0.36143	0.2862276875846936	0.28535	.	.	0.602860093117	0.53308	T	0.221387	0.58495	T	-0.427735	0.01530	T	-0.393664	0.34122	T	0.0189972519224841	0.00608	T	0.69713	0.30670	T	0.2310756	0.45873	0.15219982	0.35819	0.263958	0.49461	0.236558	0.48930	-6.712	0.51901	T	0.17924317183689714	0.23013	0.074	0.14568	B	.;.	.;.	2.350749	0.30139	18.34	0.89162335636740009	0.18563	0.96569	0.69797	D	AEFBI	0.663945	0.63329	D	-0.197382824331063	0.33243	1.88379	-0.0530265507784232	0.37360	2.186413	0.00228488324631602	0.09294	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.83	5.83	0.93059	4.323000	0.59010	7.836000	0.70319	0.745000	0.86679	0.999000	0.42656	1.000000	0.68203	0.015000	0.10482	0.8681:0.1319:0.0:0.0	13.246	0.59453	958	0.09170	.;.	.	.	.	.	.	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	0.02381	1133.98	82	chr17	9182936	.	A	C	1133.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.416;DP=1432;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.70;ReadPosRankSum=-2.450e+00;SOR=0.709	GT:AD:DP:GQ:PL	0/1:57,49:106:99:1148,0,1387	20	0	1	0
chr17	9608191	9608191	T	C	exonic	CFAP52	.	nonsynonymous SNV	CFAP52:NM_001080556:exon6:c.T622C:p.C208R	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.896	P	0.474	P	0.000	D	1.000	D	2.015	M	5.06	T	0.430	D	0.667	D	0.938	3.784	19.21	5.42	2.184	5.545	14.734	0.427	0.27158512124	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs779089512	6.852e-07	6.84e-07	0	1.377e-06	9.004e-07	0	0	.	.	0	0	0	0	0	0	9.004e-07	0	0	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.089	0.32141	T	0.062	0.45318	T	0.895	0.49247	P	0.474	0.46883	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-2.58	0.89757	D	-3.7	0.71276	D	0.9	0.90025	0.430	0.89541	D	0.667	0.88460	D	10	0.95042	0.94377	D	0.271585	0.89899	D	0.427	0.73445	0.788	0.91068	0.728798078922	0.72639	0.8626854486684278	0.86232	0.349758134559	0.36824	0.72649949789	0.70995	T	0.226127	0.59106	T	0.391603	0.89423	D	0.324734	0.89290	D	0.986552178859711	0.77243	D	0.692831	0.30243	T	0.7803619	0.82676	0.73778266	0.84502	0.7803619	0.82677	0.73778266	0.84503	-11.076	0.80073	D	.	.	0.795	0.81070	P	.;.	.;.	3.991804	0.58755	24.0	0.9947476764866775	0.66525	0.92524	0.55913	D	AEFI	0.735291	0.68115	D	0.46251674620387	0.64917	4.757327	0.511963535612072	0.68792	5.269485	0.818497642452698	0.24481	0.500041	0.20204	0	0.573888	0.26702	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	5.682000	0.67845	7.743000	0.68032	0.659000	0.54702	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	14.734	0.69020	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1609.98	35	chr17	9608191	.	T	C	1609.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.597e+00;DP=855;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.59;ReadPosRankSum=4.000e-03;SOR=0.642	GT:AD:DP:GQ:PL	0/1:76,76:152:99:1624,0,1794	20	0	1	0
chr17	10395407	10395407	C	T	exonic	MYH8	.	nonsynonymous SNV	MYH8:NM_002472:exon34:c.G4688A:p.R1563H,	Carney complex variant;Trismus-pseudocamptodactyly syndrome, Autosomal dominant	.	20	1495	7	0	0	7	0.00233567	.	.	327085	Hecht_syndrome	MONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300,Orphanet:3377	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.03	D	0.13	B	0.064	B	0.015	N	0.960	D	3.395	M	-1.88	D	0.338	D	0.649	D	0.457	3.224	16.80	3.89	1.285	4.717	13.501	0.512	0.0112357876322	.	0.000199681	0.0004	9.634e-05	0.0011	0	0	0.0003	0	0.0012	0.0003752	58	154602	rs544591533	0.0002	0.0002	0.0001	0.0003	0.0014	0.0002	0.0002	0.0011	0.0011	8.961e-05	0.0005	0.0012	0.0002	3.744e-05	0.0014	6.475e-05	0.0004	0.0013	0.0001	0.0001	8.997e-05	0.0001	0.0008	7.575e-05	6.28e-05	0.0003	0.0002	0	0	0.0002	0.0020	0	0	0	5.883e-05	0	0.0008	0.034	0.44029	D	0.025	0.56192	D	0.13	0.27095	B	0.064	0.27215	B	0.015126	0.28333	N	0.165679	0.959991	0.38156	D	3.61	0.93830	H	-1.88	0.84487	D	-3.38	0.66780	D	0.327	0.36779	0.338	0.88154	D	0.649	0.87754	D	10	0.049608737	0.04574	T	0.011236	0.28661	T	0.512	0.79094	.	.	0.801505490569	0.79965	0.26332399225704306	0.26245	0.252307128411	0.27798	0.618071198463	0.55457	T	0.643014	0.89075	D	-0.213328	0.18914	T	-0.124759	0.61409	T	0.13078168191902	0.15454	T	0.829517	0.49484	T	0.110277876	0.26068	0.13361154	0.32034	0.110277876	0.26068	0.13361154	0.32033	-11.689	0.83303	D	0.5093695489091267	0.58335	0.117	0.23605	B	.	.	3.933766	0.57511	23.9	0.99457749312671673	0.65633	0.95464	0.64825	D	AEFBI	0.703325	0.65940	D	0.0475727841921327	0.44032	2.684646	0.103389680070243	0.44721	2.748457	0.990881869966933	0.32301	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.85	3.89	0.44098	4.937000	0.63213	4.851000	0.45376	-0.173000	0.11020	0.983000	0.35670	1.000000	0.68203	0.944000	0.48669	0.0:0.9248:0.0:0.0752	13.501	0.60911	62	0.97349	Myosin tail	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1778.98	35	chr17	10395407	.	C	T	1778.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.14;DP=861;ExcessHet=0.0000;FS=5.168;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.53;ReadPosRankSum=0.153;SOR=1.106	GT:AD:DP:GQ:PL	0/1:75,67:142:99:1793,0,1785	20	0	1	0
chr17	11636700	11636700	C	G	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon9:c.C1702G:p.L568V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.004	B	0.014	B	0.359	N	1.000	D	0.115	N	0.47	T	-1.089	T	0.076	T	0.185	0.137	4.738	3.42	0.645	0.534	6.536	0.081	0.00739906968523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.292	0.14894	T	.	.	.	0.004	0.12183	B	0.014	0.16862	B	0.359117	0.13697	N	0.672061	0.999745	0.20516	N	1.535	0.38868	L	0.47	0.56114	T	-0.09	0.08340	N	0.187	0.20395	-1.0886	0.05770	T	0.076	0.30397	T	10	0.2372615	0.40824	T	0.007399	0.19630	T	0.081	0.23632	0.821	0.93395	0.444807159249	0.44105	0.11620045701656653	0.11548	0.0881976249193	0.09965	0.298568248749	0.10189	T	0.006251	0.05685	T	-0.20129	0.20618	T	-0.526916	0.19595	T	0.136977881193161	0.16012	T	0.632737	0.24712	T	0.113806054	0.26873	0.072571434	0.15673	0.113806054	0.26873	0.072571434	0.15672	-3.876	0.21943	T	.	.	0.068	0.02797	B	.;.	.;.	0.935825	0.13111	9.615	0.80351950028833286	0.13162	0.26373	0.22974	N	AEFDBI	0.103961	0.20815	N	-0.832576980995318	0.12483	0.6087483	-0.762854654976455	0.15408	0.8101475	3.66095514442984E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.7	3.42	0.38259	0.147000	0.16021	0.329000	0.17264	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.420000	0.27228	0.1672:0.72:0.0:0.1128	6.536	0.21552	788	0.46569	Dynein heavy chain, domain-1;Dynein heavy chain, domain-1	.	.	.	.	.	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	0.02381	1743.98	34	chr17	11636700	.	C	G	1743.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.186e+00;DP=838;ExcessHet=0.0000;FS=0.651;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.11;ReadPosRankSum=0.256;SOR=0.784	GT:AD:DP:GQ:PL	0/1:58,75:133:99:1758,0,1452	20	0	1	0
chr17	12990085	12990085	C	T	exonic	ARHGAP44	.	nonsynonymous SNV	ARHGAP44:NM_001321166:exon20:c.C2353T:p.R785C	.	.	424	1083	15	0	0	15	0.00687758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.978	D	0.353	B	0.002	N	1.000	D	0	N	2.24	T	-1.085	T	0.024	T	0.393	3.377	17.39	5.73	2.701	3.925	12.344	0.102	0.0278971398683	.	0.00139776	0.0013	0.0001	8.678e-05	0	0	0	0.0034	0.0089	0.0010737	166	154602	rs373321971	0.0006	0.0006	0.0003	0.0009	0.0093	0.0006	0.0006	0.0088	0.0086	2.988e-05	2.236e-05	0	2.537e-05	0	0.0019	2.79e-05	0.0005	0.0093	0.0003	0.0003	0.0001	0.0004	0.0073	0.0002	0.0002	0.0054	0.0047	7.218e-05	0	0	0	0	0	0	2.94e-05	0	0.0073	0.002	0.72154	D	0.054	0.47097	T	0.978	0.58756	D	0.353	0.42910	B	0.001524	0.38731	N	0.174839	0.997547	0.81001	D	1.39	0.34934	L	2.24	0.17923	T	-1.69	0.40274	N	0.285	0.33904	-1.0855	0.06316	T	0.024	0.10374	T	10	0.0062056184	0.00140	T	0.027897	0.50651	D	0.102	0.29158	0.258	0.20002	0.082315109003	0.07666	0.23863675517191169	0.23777	0.348927015905	0.36754	0.406373888254	0.25955	T	0.032893	0.22682	T	-0.443578	0.01232	T	-0.403407	0.32988	T	0.0893905220065975	0.11145	T	0.835916	0.50694	T	0.1282618	0.29991	0.066219054	0.13534	0.1282618	0.29991	0.066219054	0.13534	-4.23	0.27484	T	.	.	0.072	0.14385	B	.;.	.;.	4.228033	0.63999	24.6	0.9986507322271504	0.94366	0.83385	0.42506	D	AEFDBHCI	0.607972	0.59773	D	0.301683228877574	0.56234	3.787913	0.416338083985265	0.62583	4.476105	0.999989882946165	0.51787	0.67177	0.52595	0	0.702456	0.74545	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	5.73	5.73	0.89730	3.199000	0.50745	4.880000	0.45656	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.660000	0.32968	0.1687:0.8313:0.0:0.0	12.344	0.54433	945	0.12563	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2441.98	35	chr17	12990085	.	C	T	2441.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.790e-01;DP=941;ExcessHet=0.0000;FS=2.274;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.85;ReadPosRankSum=-5.030e-01;SOR=0.880	GT:AD:DP:GQ:PL	0/1:117,108:225:99:2456,0,2803	20	0	1	0
chr17	16353372	16353372	G	C	exonic	CENPV	.	nonsynonymous SNV	CENPV:NM_181716:exon1:c.C65G:p.A22G,	.	.	493	451	356	217	5	795	0.466903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.0	B	0.002	B	0.018	N	0.995	P	.	.	.	.	-1.045	T	0.000	T	0.13	-0.711	0.937	-5.31	-0.962	-0.654	7.385	0.005	0.0196258658988	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs149829221	7.149e-05	0.0003	7.417e-05	6.858e-05	0.0004	5.819e-05	5.381e-05	9.822e-05	5.577e-05	0	0.0004	0	0.0002	0	0	7.546e-05	2.353e-05	0	0.0001	0.0002	0.0002	0.0001	0.0004	9.954e-05	8.437e-05	0.0001	9.132e-05	7.305e-05	0	6.661e-05	0	0.0004	0.0001	0.0034	0.0002	0	0.0002	0.561	0.06361	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.018135	0.01481	N	4.295950	1	0.23375	P	.	.	.	.	.	.	0.16	0.05217	N	0.077	0.05162	-1.0452	0.15767	T	0.000	0.00011	T	7	0.019916922	0.00451	T	0.019626	0.42042	T	0.005	0.00259	.	.	0.0884992946249	0.08302	0.0786799102888714	0.07802	1.08031386052	0.77120	0.761266052723	0.76117	T	.	.	.	-0.513494	0.00480	T	-0.57513	0.14982	T	0.0382244026170994	0.03372	T	0.321768	0.06536	T	.	.	.	.	.	.	.	.	-4.474	0.30547	T	.	.	0.062	0.01367	B	.	.	0.600789	0.09695	6.463	0.46967313541535144	0.03803	0.01035	0.03875	N	AEFDGBHCI	0.040505	0.06034	N	-1.72508104807624	0.00756	0.03267343	-1.84943526281674	0.00613	0.02726113	0.99999999998593	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	2.66	-5.31	0.02519	0.072000	0.14482	-2.522000	0.03652	0.272000	0.18543	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.3102:0.4876:0.2022	7.385	0.26048	688	0.59122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	6610.61	16	chr17	16353372	.	G	GCGGAGGCCC,C	6610.61	.	AC=23,1;AF=0.548,0.024;AN=42;BaseQRankSum=0.00;DP=327;ExcessHet=0.2438;FS=3.230;InbreedingCoeff=0.2106;MLEAC=23,1;MLEAF=0.548,0.024;MQ=60.00;MQRankSum=0.00;QD=28.25;ReadPosRankSum=0.231;SOR=0.929	GT:AD:DP:GQ:PL	1/1:0,9,0:9:27:405,27,0,405,27,405	5	7	8	0
chr17	17793782	17793782	-	CAG	exonic	RAI1	.	nonframeshift insertion	RAI1:NM_030665:exon3:c.834_835insCAG:p.Q291_A292insQ,	Smith-Magenis syndrome, Autosomal dominant, Isolated cases	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	8476.07	194	chr17	17793779	.	CCAG	C,CCAGCAG	8476.07	.	AC=7,2;AF=0.167,0.048;AN=42;BaseQRankSum=0.190;DP=4672;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.3035;MLEAC=7,2;MLEAF=0.167,0.048;MQ=60.00;MQRankSum=0.00;QD=4.69;ReadPosRankSum=0.870;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:202,19,0:221:40:0|1:17793779_CCAG_C:40,0,6529,647,6587,7233:17793779	12	0	7	0
chr17	27647035	27647035	G	T	exonic	LGALS9	.	nonsynonymous SNV	LGALS9:NM_001330163:exon8:c.G579T:p.M193I	.	.	434	1034	53	1	0	55	0.0259067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.001	B	0.006	B	0.706	N	1.000	N	0.55	N	3.85	T	-0.938	T	0.014	T	0.246	0.040	4.220	-2.32	-0.205	-0.270	3.724	0.025	.	0.0028	0.00858626	0.0070	0.0003	0.0029	0.0001	0.0024	0.0043	0.0077	0.0308	0.00641	991	154602	rs61736863	0.0047	0.0047	0.0036	0.0057	0.0307	0.0046	0.0045	0.0298	0.0294	0.0006	0.0030	0.0015	5.038e-05	0.0026	0.0243	0.0030	0.0052	0.0307	0.0037	0.0037	0.0032	0.0042	0.0338	0.0035	0.0034	0.0296	0.0280	0.0006	0	0.0033	0.0014	0	0.0028	0.0204	0.0041	0.0057	0.0338	1.0	0.03787	T	0.515	0.10643	T	0.0	0.02946	B	0.0	0.01387	B	0.705616	0.10057	N	0.874683	1	0.08975	N	0.805	0.20218	L	2.88	0.10291	T	-0.92	0.30555	N	0.087	0.10198	-0.9379	0.42947	T	0.014	0.05561	T	10	0.007870913	0.00179	T	.	.	.	0.025	0.05312	0.396	0.42262	0.117506650769	0.11410	0.21356275858387824	0.21272	0.428623133953	0.43178	0.377718806267	0.21933	T	0.057428	0.30565	T	-0.608484	0.00129	T	-0.623824	0.10888	T	0.00143451320405818	0.00014	T	0.717128	0.38135	T	0.24168785	0.47088	0.09407839	0.22253	0.24168785	0.47088	0.09407839	0.22252	-3.734	0.19821	T	.	.	0.213	0.49903	B	.;.;.;.;.	.;.;.;.;.	0.027789	0.04477	1.192	0.7052755038938161	0.09325	0.04884	0.10627	N	AEFDBI	0.042672	0.06650	N	-1.07995783123573	0.07013	0.324544	-1.1025804986439	0.07651	0.3729923	0.189229202955983	0.17978	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.31	-2.32	0.06360	-0.410000	0.07214	-2.454000	0.03734	0.612000	0.49041	0.191000	0.24200	0.000000	0.08366	0.026000	0.12556	0.5182:0.0:0.299:0.1828	3.724	0.07996	253	0.90069	Galectin, carbohydrate recognition domain;Galectin, carbohydrate recognition 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	11075.68	35	chr17	27647035	.	G	T	11075.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.540e-01;DP=1598;ExcessHet=0.3300;FS=0.524;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=59.99;MQRankSum=0.00;QD=11.71;ReadPosRankSum=0.147;SOR=0.745	GT:AD:DP:GQ:PL	0/1:169,163:332:99:4005,0,4182	18	0	3	0
chr17	28592094	28592094	C	T	exonic	SPAG5	.	nonsynonymous SNV	SPAG5:NM_006461:exon3:c.G1150A:p.V384M,	.	.	426	1076	20	0	0	20	0.0092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.003	N	0.696	N	1.04	L	0.93	T	-0.814	T	0.124	T	0.449	2.766	15.21	4.37	1.389	1.878	11.131	0.179	.	0.0008	0.00219649	0.0012	0	0.0010	0	0	0.0005	0.0110	0.0055	0.0011255	174	154602	rs143027546	0.0006	0.0006	0.0004	0.0008	0.0081	0.0006	0.0006	0.0063	0.0056	2.987e-05	0.0005	0.0003	2.519e-05	1.872e-05	0.0081	0.0003	0.0010	0.0045	0.0006	0.0006	0.0006	0.0006	0.0041	0.0005	0.0005	0.0027	0.0023	9.634e-05	0	0.0017	0.0003	0	0	0.0204	0.0005	0.0005	0.0041	0.005	0.63226	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.002647	0.36173	N	0.122959	0.696155	0.30146	N	1.625	0.41611	L	0.93	0.44065	T	-1.06	0.27669	N	0.263	0.29774	-0.8139	0.54312	T	0.124	0.42799	T	10	0.010965079	0.00242	T	.	.	.	0.179	0.44899	.	.	0.616854986462	0.61376	0.22841272605531776	0.22756	0.400445151667	0.41042	0.426760196686	0.28765	T	0.248194	0.61795	T	-0.428417	0.01515	T	-0.386801	0.34926	T	0.0485543331539462	0.05243	T	0.859414	0.55137	D	0.0940571	0.22106	0.081144206	0.18418	0.0940571	0.22106	0.081144206	0.18417	-4.254	0.27527	T	.	.	0.148	0.32756	B	.	.	2.964414	0.39493	21.0	0.99883002757144201	0.95892	0.73354	0.35883	D	AEFBHCI	0.092057	0.18640	N	0.261943215208145	0.54233	3.589319	0.193538647594971	0.49491	3.151726	0.327593033170424	0.19451	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.34	4.37	0.51830	1.398000	0.34163	4.914000	0.45980	0.599000	0.40250	0.819000	0.29975	1.000000	0.68203	0.819000	0.38590	0.0:0.9137:0.0:0.0863	11.131	0.47568	232	0.90957	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1835.98	33	chr17	28592094	.	C	T	1835.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.300e+00;DP=888;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.19;ReadPosRankSum=0.351;SOR=0.707	GT:AD:DP:GQ:PL	0/1:88,76:164:99:1850,0,2360	20	0	1	0
chr17	34626316	34626316	A	C	exonic	TMEM132E	.	nonsynonymous SNV	TMEM132E:NM_001304438:exon2:c.A257C:p.E86A,	.	.	421	1083	17	1	0	19	0.00869565	.	.	1246008	not_specified|not_provided|Hearing_loss,_autosomal_recessive_99	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0032776,MedGen:C4760579,OMIM:618481	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.74	T	0.939	P	0.4	B	0.000	D	0.801	D	0.68	N	2.72	T	-1.035	T	0.024	T	0.358	2.819	15.39	4.91	1.830	4.343	13.729	0.105	0.0156382407016	0.0008	0.000399361	0.0015	0.0001	0.0002	0	0	0.0012	0.0031	0.0051	0.0010026	155	154602	rs147874855	0.0008	0.0008	0.0006	0.0009	0.0052	0.0007	0.0007	0.0048	0.0046	2.989e-05	0.0002	0.0124	2.522e-05	0	0.0038	0.0002	0.0014	0.0052	0.0005	0.0005	0.0005	0.0006	0.0048	0.0004	0.0004	0.0033	0.0028	2.406e-05	0	0.0003	0.0101	0.0002	0	0	0.0002	0.0005	0.0048	0.803	0.03093	T	0.225	0.25514	T	0.939	0.52645	P	0.4	0.44481	B	0.000001	0.84330	D	0.053822	0.800889	0.34509	D	0.46	0.12951	N	2.72	0.11947	T	-1.89	0.44094	N	0.524	0.55366	-1.0354	0.18731	T	0.024	0.10194	T	10	0.007769197	0.00176	T	0.015638	0.36485	T	0.105	0.29889	.	.	0.101711395817	0.09552	0.39177012133355504	0.39092	0.993255338325	0.74148	0.557775259018	0.46954	T	0.007693	0.19136	T	-0.502461	0.00554	T	-0.493574	0.23017	T	0.0385352489959301	0.03427	T	0.89921	0.70434	D	0.28336868	0.51369	0.3393668	0.59703	0.3814324	0.59420	0.36686766	0.62008	-2.705	0.07346	T	.	.	0.158	0.39613	B	.;.	.;.	4.169213	0.62671	24.5	0.98468867638673319	0.41826	0.93341	0.57958	D	AEFDBHCI	0.631466	0.61243	D	0.105800735716619	0.46734	2.909205	0.198485047167477	0.49764	3.175798	0.999829391747232	0.43622	0.59774	0.34471	0	0.59043	0.45803	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	4.91	4.91	0.63897	4.374000	0.59312	11.036000	0.85117	0.738000	0.86027	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	13.729	0.62258	970	0.06235	Transmembrane protein TMEM132, N-terminal;Transmembrane protein TMEM132, 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	0.02381	1129.98	44	chr17	34626316	.	A	C	1129.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.208;DP=893;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.18;ReadPosRankSum=-2.400e-02;SOR=0.748	GT:AD:DP:GQ:PL	0/1:65,46:111:99:1144,0,1706	20	0	1	0
chr17	35844676	35844676	-	AGT	exonic	TAF15	.	nonframeshift insertion	TAF15:NM_003487:exon15:c.1368_1369insAGT:p.R456_G457insS	Chondrosarcoma, extraskeletal myxoid	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	.	.	.	rs765317328	3.79e-05	0.0001	3.835e-05	3.745e-05	0.0013	2.982e-05	2.675e-05	0.0010	0.0009	0	0	3.844e-05	0.0013	0	0.0002	1.807e-06	0	1.169e-05	1.35e-05	7.989e-05	0	2.766e-05	0.0004	2.24e-06	8.4e-07	7.183e-05	2.989e-05	0	0	0	0	0.0004	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	861.94	33	chr17	35844676	.	A	AAGT	861.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.940e-01;DP=830;ExcessHet=0.0000;FS=0.942;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=1.37;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,25:69:99:0|1:35844676_A_AAGT:876,0,1773:35844676	20	0	1	0
chr17	37257713	37257713	C	T	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon12:c.G1531A:p.E511K	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.796	P	0.741	P	0.000	D	1.000	D	1.91	M	-1.57	D	0.107	D	0.637	D	0.898	4.574	24.8	5.93	2.826	7.818	19.342	0.692	0.0171503242482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.17696	T	0.746	0.44790	P	0.557	0.55725	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.885	0.50048	L	.	.	.	.	.	.	0.862	0.85872	0.107	0.84300	D	0.637	0.87289	D	10	0.7375028	0.74723	D	0.01715	0.38730	T	.	.	0.467	0.53891	0.877869702975	0.87668	0.9836152231955558	0.98353	.	.	0.872255206108	0.92889	D	0.780159	0.94189	D	0.432308	0.91648	D	0.383204	0.91545	D	0.977236747741699	0.71748	D	.	.	.	0.81459284	0.84857	0.6431959	0.79147	0.81459284	0.84859	0.6431959	0.79148	-9.549	0.74745	D	.	.	0.857	0.80134	P	.;.;.;.	.;.;.;.	5.294357	0.88888	29.8	0.9986442591158583	0.94276	0.98597	0.84519	D	AEFBI	0.820385	0.74119	D	0.627107990343815	0.74894	6.211086	0.69699622420893	0.82148	7.696462	0.999999997971713	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	5.93	5.93	0.95888	7.905000	0.86479	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.342	0.94335	689	0.59000	.;.;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	12960.74	97	chr17	37257713	.	C	T	12960.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.586;DP=2083;ExcessHet=54.0936;FS=453.130;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=6.37;ReadPosRankSum=-7.710e-01;SOR=14.039	GT:AD:DP:GQ:PL	0/1:47,52:99:99:472,0,514	0	0	21	0
chr17	39408575	39408575	G	T	exonic	MED1	.	nonsynonymous SNV	MED1:NM_004774:exon17:c.C3646A:p.P1216T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	1.0	D	0.997	D	.	.	1.000	D	0.805	L	-0.17	T	-0.488	T	0.324	T	0.512	3.520	17.98	5.35	2.941	9.166	19.614	0.310	0.015785811764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.128	0.34959	T	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	1	0.81001	D	0.695	0.17993	N	-0.17	0.65563	T	-0.77	0.21429	N	0.352	0.39356	-0.4879	0.69083	T	0.324	0.69289	T	9	0.35291004	0.52109	T	0.015786	0.36715	T	0.310	0.63162	0.472	0.54699	0.490941945927	0.48727	0.4526040378931496	0.45178	0.305758246297	0.32879	0.830530166626	0.86643	D	0.221623	0.58524	T	0.0682493	0.60637	T	-0.139741	0.60141	T	0.730019807815552	0.42211	D	0.885611	0.61095	D	0.2747489	0.50540	0.27475628	0.53406	0.2747489	0.50540	0.27475628	0.53405	-4.408	0.29665	T	.	.	0.370	0.57835	A	.	.	4.595363	0.72728	25.9	0.99669098794119315	0.78458	0.98522	0.83679	D	AEFBCI	0.856228	0.77344	D	0.748358084195801	0.82797	7.852441	0.78594462261523	0.88797	9.719958	0.999999999947797	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.35	5.35	0.76297	9.250000	0.94657	11.915000	0.99681	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.614	0.95621	447	0.79583	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3146.98	34	chr17	39408575	.	G	T	3146.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.420e+00;DP=923;ExcessHet=0.0000;FS=4.481;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=0.610;SOR=0.494	GT:AD:DP:GQ:PL	0/1:103,131:234:99:3161,0,2571	20	0	1	0
chr17	39729601	39729601	A	G	exonic	MIEN1	.	nonsynonymous SNV	MIEN1:NM_032339:exon4:c.T269C:p.I90T,	.	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.157	B	0.053	B	0.000	D	1.000	D	1.98	M	0.98	T	-1.014	T	0.119	T	0.455	4.011	20.6	5.8	2.216	6.099	15.127	0.103	0.0189901238339	.	.	1.647e-05	0	0	0.0001	0	1.498e-05	0	0	1.29e-05	2	154602	rs752142378	8.893e-06	8.893e-06	1.225e-05	5.5e-06	0.0002	4.96e-06	3.82e-06	6.51e-05	4.449e-05	0	2.236e-05	0	0.0002	1.872e-05	0	4.496e-06	0	0	1.972e-05	1.97e-05	1.285e-05	2.692e-05	0.0002	5.24e-06	2.46e-06	8e-06	2.99e-06	4.829e-05	0	0	0	0	0	0	0	0	0.0002	0.107	0.29554	T	0.144	0.33109	T	0.157	0.28234	B	0.053	0.25678	B	0.000359	0.45440	D	0.182118	0.994815	0.81001	D	1.795	0.47270	L	0.98	0.42122	T	-2.65	0.56787	D	0.286	0.32370	-1.0141	0.25625	T	0.119	0.41756	T	10	0.1580129	0.29724	T	0.01899	0.41227	T	0.103	0.29403	0.517	0.61763	0.176862962021	0.17281	.	.	0.636598720207	0.57434	0.57997918129	0.50082	T	0.032896	0.22686	T	-0.223694	0.17492	T	-0.333396	0.41089	T	0.513573918805349	0.33129	D	0.787321	0.42620	T	0.1653943	0.36808	0.18658113	0.41839	0.1653943	0.36808	0.18658113	0.41838	-5.538	0.42222	T	.	.	0.292	0.52318	B	.	.	3.899575	0.56795	23.8	0.99325235581142546	0.59546	0.82830	0.42006	D	AEFDGBHCI	0.785814	0.71608	D	0.155628518477587	0.49077	3.112325	0.310695548390021	0.56168	3.779743	0.999999999999993	0.74766	0.733237	0.96898	0	0.600757	0.49542	0	0.594344	0.31042	0	0.638787	0.57140	0	.	.	5.8	5.8	0.92081	6.185000	0.71948	9.372000	0.80454	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	1.0:0.0:0.0:0.0	15.127	0.72169	582	0.69555	.	.	.	.	.	.	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	0.02381	1342.98	34	chr17	39729601	.	A	G	1342.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.294;DP=797;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=0.249;SOR=0.656	GT:AD:DP:GQ:PL	0/1:57,58:115:99:1357,0,1292	20	0	1	0
chr17	41041286	41041286	G	0	exonic	KRTAP1-1	.	.	.	.	.	423	643	441	0	15	456	0.255356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	3885.87	242	chr17	41041286	.	G	T,*	3885.87	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=2.73;DP=3812;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.3548;MLEAC=10,1;MLEAF=0.238,0.024;MQ=59.30;MQRankSum=-1.165e+01;QD=1.29;ReadPosRankSum=4.68;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:281,26,0:307:99:0|1:41041286_G_T:246,0,11140,1092,11218,12310:41041286	10	0	10	0
chr17	41041297	41041297	G	0	exonic	KRTAP1-1	.	.	.	.	.	0	91	122	0	13	135	0.401316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2306.36	255	chr17	41041297	.	G	*,C	2306.36	.	AC=1,9;AF=0.025,0.225;AN=40;BaseQRankSum=2.19;DP=3862;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3496;MLEAC=1,10;MLEAF=0.025,0.250;MQ=59.29;MQRankSum=-1.141e+01;QD=0.84;ReadPosRankSum=4.87;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:279,0,46:325:99:0|1:41041286_G_T:287,1127,12405,0,11278,11175:41041286	10	0	1	1
chr17	41041341	41041341	G	0	exonic	KRTAP1-1;KRTAP9-7	.	.	.	.	.	423	805	280	0	14	294	0.148148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	2496.32	253	chr17	41041341	.	G	T,*	2496.32	.	AC=7,1;AF=0.167,0.024;AN=42;BaseQRankSum=0.535;DP=3198;ExcessHet=3.5521;FS=0.766;InbreedingCoeff=-0.2364;MLEAC=7,1;MLEAF=0.167,0.024;MQ=59.31;MQRankSum=-1.146e+01;QD=1.14;ReadPosRankSum=-1.843e+00;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:275,26,0:301:99:.:.:145,0,10824,971,10902,11873	13	0	7	0
chr17	41255418	41255418	-	ACATGCTGCAGGACC	exonic	KRTAP9-9	.	nonframeshift insertion	KRTAP9-9:NM_030975:exon1:c.33_34insACATGCTGCAGGACC:p.C18_W19insCRTTC,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0.0003	0.0004	0	0.0002	0	0.0016	.	.	.	.	0.0001	0.0001	0.0001	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	0	9.887e-05	0	0.0006	0	0.0003	9.047e-05	0.0002	0.0006	0.0003	0.0002	0.0002	0.0004	0.0009	0.0002	0.0002	0.0003	0.0003	9.301e-05	0	0	0	0	0	0	0.0006	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	31242.72	98	chr17	41255418	.	T	TACCTGCTGCAGGACC,TACATGCTGCAGGACC	31242.72	.	AC=26,1;AF=0.619,0.024;AN=42;BaseQRankSum=2.14;DP=2539;ExcessHet=0.0001;FS=5.599;InbreedingCoeff=0.7311;MLEAC=26,1;MLEAF=0.619,0.024;MQ=52.57;MQRankSum=-1.273e+00;QD=33.81;ReadPosRankSum=-3.744e+00;SOR=1.018	GT:AD:DP:GQ:PL	1/1:0,55,0:55:99:2314,159,0,2320,165,2326	6	11	3	0
chr17	43209576	43209576	C	T	exonic	NBR1	.	nonsynonymous SNV	NBR1:NM_001291571:exon21:c.C2747T:p.S916L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	.	.	1.000	N	.	.	.	.	-1.001	T	0.077	T	.	0.422	6.290	0.668	0.179	-0.690	6.907	0.099	0.00247799293091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.892e-06	2.736e-06	0	5.862e-06	5.049e-05	6.8e-07	4.6e-07	1.678e-05	9.94e-06	0	0	0	0	0	0	0	0	5.049e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	0.89	0.45636	T	.	.	.	0.231	0.25989	-1.0011	0.29602	T	0.077	0.30828	T	7	0.083803385	0.13980	T	0.002478	0.04925	T	.	.	0.34	0.33141	0.177238962908	0.17366	.	.	.	.	.	.	.	.	.	.	-0.208605	0.19577	T	-0.537423	0.18551	T	0.0225476848085301	0.00970	T	0.474053	0.14146	T	.	.	.	.	.	.	.	.	-2.953	0.09684	T	.	.	0.104	0.18705	B	.	.	0.197311	0.05827	2.267	0.68196843098406135	0.08585	0.03259	0.08291	N	AEFBI	0.040444	0.06017	N	-0.901074322236357	0.10816	0.5188141	-0.995857017767948	0.09878	0.4940473	4.44860287574638E-4	0.07004	0.475973	0.10046	0	0.601575	0.49859	0	0.463624	0.06942	0	0.221012	0.04332	2	.	.	3.12	0.668	0.17081	-0.683000	0.05280	-0.427000	0.09246	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.146000	0.20164	0.0:0.7932:0.0:0.2068	6.907	0.23497	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.375	945.77	54	chr17	43209576	.	C	T,G	945.77	.	AC=4,2;AF=0.250,0.125;AN=16;BaseQRankSum=-2.204e+00;DP=843;ExcessHet=1.7912;FS=369.161;InbreedingCoeff=-0.4233;MLEAC=7,3;MLEAF=0.438,0.188;MQ=60.00;MQRankSum=0.00;QD=2.89;ReadPosRankSum=0.771;SOR=8.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,14,0:59:99:0|1:43209576_C_T:201,0,1317,336,1358,1694:43209576	2	0	4	13
chr17	43209576	43209576	C	G	exonic	NBR1	.	stopgain	NBR1:NM_001291571:exon21:c.C2747G:p.S916X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	0.966	N	.	.	.	.	.	.	.	.	.	0.298	5.615	0.668	0.179	-0.690	6.907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.983113	0.39974	D	.	.	.	.	.	.	.	.	.	0.119	0.10911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.411962	0.01929	T	-0.829532	0.01270	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115114	0.05136	1.662	0.67607967295508664	0.08405	0.08425	0.14356	N	AEFBI	0.032893	0.03801	N	-0.577608091250192	0.19625	1.028636	-0.768591458878559	0.15266	0.8020448	4.44860287574638E-4	0.07004	0.475973	0.10046	0	0.601575	0.49859	0	0.463624	0.06942	0	0.221012	0.04332	2	.	.	3.12	0.668	0.17081	-0.683000	0.05280	-0.427000	0.09246	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.146000	0.20164	0.0:0.7932:0.0:0.2068	6.907	0.23497	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.375	945.77	54	chr17	43209576	.	C	T,G	945.77	.	AC=4,2;AF=0.250,0.125;AN=16;BaseQRankSum=-2.204e+00;DP=843;ExcessHet=1.7912;FS=369.161;InbreedingCoeff=-0.4233;MLEAC=7,3;MLEAF=0.438,0.188;MQ=60.00;MQRankSum=0.00;QD=2.89;ReadPosRankSum=0.771;SOR=8.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,14,0:59:99:0|1:43209576_C_T:201,0,1317,336,1358,1694:43209576	2	0	4	13
chr17	44086718	44086718	G	A	exonic	HDAC5	.	nonsynonymous SNV	HDAC5:NM_001015053:exon14:c.C1907T:p.P636L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.456	P	0.04	B	0.176	N	0.963	D	0.205	N	0.92	T	-1.053	T	0.044	T	0.295	0.242	5.306	0.988	0.197	1.245	12.676	0.030	0.00847327940369	0.0005	0.000998403	0.0003	0.0033	0	0	0	3.321e-05	0	0	0.0001746	27	154602	rs141368443	6.109e-05	5.062e-05	6.845e-05	5.303e-05	0.0023	4.924e-05	4.515e-05	0.0019	0.0017	0.0023	6.944e-05	0	0	0	0.0002	7.382e-06	6.548e-05	0	0.0005	0.0005	0.0006	0.0005	0.0019	0.0004	0.0004	0.0016	0.0015	0.0019	0	6.533e-05	0	0	0	0	0	0	0	0.348	0.21385	T	0.545	0.09588	T	0.07	0.36269	B	0.025	0.23831	B	0.175917	0.17239	N	0.512841	0.96341	0.38347	D	0.895	0.22405	L	0.91	0.44856	T	-0.51	0.31576	N	0.249	0.29429	-1.0528	0.13628	T	0.044	0.18906	T	10	0.0079731345	0.00181	T	0.008473	0.22407	T	0.030	0.07022	.	.	0.429154209284	0.42533	0.18779775902854495	0.18697	0.338984260015	0.35858	0.463661968708	0.33812	T	0.266787	0.63877	T	-0.494332	0.00615	T	-0.489634	0.23429	T	0.030714444136468	0.02100	T	0.940106	0.77361	D	0.026938604	0.01817	0.028314546	0.01056	0.026938604	0.01816	0.028314546	0.01056	-3.458	0.23098	T	.	.	0.069	0.04316	B	.;.;.	.;.;.	2.317796	0.29679	18.20	0.8183302525048971	0.13883	0.62825	0.31900	D	AEFDBHCIJ	0.454594	0.50723	N	-0.75877060846201	0.14396	0.7167739	-0.591351181378381	0.19717	1.05917	0.99999992037849	0.74766	0.730579	0.87903	0	0.702456	0.74545	0	0.749866	0.98131	0	0.662433	0.64102	0	.	.	4.79	0.988	0.18914	1.023000	0.29668	1.905000	0.29608	-0.832000	0.02862	1.000000	0.71638	1.000000	0.68203	0.036000	0.13842	0.0:0.0:0.5701:0.4299	12.676	0.56258	599	0.68140	.;.;.	.	.	.	.	.	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	0.02381	471.98	33	chr17	44086718	.	G	A	471.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.824;DP=694;ExcessHet=0.0000;FS=6.735;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=0.667;SOR=0.177	GT:AD:DP:GQ:PL	0/1:26,19:45:99:486,0,721	20	0	1	0
chr17	44399163	44399163	G	A	exonic	GPATCH8	.	nonsynonymous SNV	GPATCH8:NM_001304943:exon5:c.C2680T:p.R894W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.952	D	0.000	D	1.000	D	0.805	L	2.62	T	-1.094	T	0.050	T	0.484	1.814	12.03	1.89	0.269	1.477	11.185	0.140	0.0129805307449	.	.	1.653e-05	0	0	0	0.0002	1.504e-05	0	0	1.29e-05	2	154602	rs772340447	3.294e-05	3.284e-05	3.143e-05	3.447e-05	0.0002	2.552e-05	2.256e-05	2.838e-05	2.516e-05	0	0	0	0	0	0.0002	3.791e-05	8.3e-05	0	1.318e-05	1.315e-05	1.287e-05	1.35e-05	2.943e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.943e-05	0	0	.	.	.	0.077	0.42436	T	1.0	0.90584	D	0.952	0.69102	D	0.000002	0.62929	D	0.000000	0.897818	0.36099	D	0.695	0.17993	N	2.62	0.12988	T	.	.	.	0.404	0.44474	-1.0940	0.04899	T	0.050	0.21261	T	10	0.19661978	0.35561	T	0.012981	0.32017	T	.	.	0.247	0.18293	0.305926609036	0.30200	0.3303272358589585	0.32945	0.14612908303	0.16499	0.728993475437	0.71359	T	0.079319	0.36100	T	-0.191743	0.22002	T	-0.449556	0.27747	T	0.348744281710107	0.26970	T	0.930207	0.74183	D	0.26363334	0.49429	0.23828442	0.49147	0.26363334	0.49429	0.23828442	0.49145	-7.523	0.57772	D	.	.	0.423	0.60852	A	.	.	4.206097	0.63511	24.6	0.99483638883201875	0.67014	0.68937	0.33992	D	AEFDGBCI	0.226725	0.35063	N	0.223764744705984	0.52354	3.409977	0.193737552085795	0.49503	3.152703	0.00929832784848345	0.11830	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	5.13	1.89	0.24700	1.269000	0.32677	5.058000	0.47060	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.0:0.1069:0.3326:0.5604	11.185	0.47875	511	0.75131	.	.	.	.	.	.	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	0.02381	2427.98	35	chr17	44399163	.	G	A	2427.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.32;DP=1257;ExcessHet=0.0000;FS=5.070;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.52;ReadPosRankSum=-5.280e-01;SOR=0.421	GT:AD:DP:GQ:PL	0/1:98,96:194:99:2442,0,2368	20	0	1	0
chr17	44804841	44804841	C	A	exonic	GJC1	.	nonsynonymous SNV	GJC1:NM_001080383:exon3:c.G977T:p.S326I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.103	B	0.043	B	0.004	N	1.000	D	1.445	L	-4.7	D	0.653	D	0.848	D	0.728	2.094	12.96	4.51	1.309	5.499	13.539	0.579	0.0759772132842	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.35726	T	0.005	0.72224	D	0.103	0.25884	B	0.043	0.24256	B	0.004134	0.34080	N	0.343587	0.999996	0.58761	D	1.655	0.42436	L	-4.06	0.98020	D	-2.34	0.51811	N	0.448	0.56833	0.653	0.92582	D	0.848	0.94919	D	10	0.47751456	0.60232	T	0.075977	0.72421	D	0.579	0.83024	0.333	0.32005	0.888667593148	0.88757	0.7222536308916031	0.72169	0.886788798741	0.70032	0.548338890076	0.45624	T	0.256649	0.62758	T	0.306432	0.83474	D	0.202392	0.83259	D	0.662268936634064	0.38995	D	0.836316	0.50742	T	0.14385548	0.33045	0.16804393	0.38735	0.14385548	0.33044	0.16804393	0.38734	-4.334	0.28651	T	.	.	0.213	0.47986	B	.;.;.;.;.	.;.;.;.;.	3.093581	0.41662	21.4	0.98833140541976039	0.46985	0.99559	0.97436	D	AEFDBI	0.727721	0.67597	D	-0.0203408901235257	0.40935	2.43971	0.135603250641044	0.46382	2.88523	0.999999997703222	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.48	4.51	0.54589	4.873000	0.62751	4.892000	0.45774	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9248:0.0:0.0752	13.539	0.61121	407	0.82314	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2993.98	38	chr17	44804841	.	C	A	2993.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.838e+00;DP=938;ExcessHet=0.0000;FS=0.491;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.67;ReadPosRankSum=-1.700e-02;SOR=0.657	GT:AD:DP:GQ:PL	0/1:102,117:219:99:3008,0,2789	20	0	1	0
chr17	45396221	45396221	T	C	exonic	ARHGAP27	.	nonsynonymous SNV	ARHGAP27:NM_001385396:exon12:c.A1049G:p.Y350C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.002	N	1.000	D	0.925	L	2.22	T	-1.103	T	0.071	T	0.491	2.612	14.70	4.54	1.905	0.862	11.867	0.152	0.0271089238162	0.0004	.	0.0005	0	8.672e-05	0	0.0003	0.0008	0.0011	0	0.0004204	65	154602	rs144020235	0.0005	0.0005	0.0004	0.0005	0.0006	0.0004	0.0004	0.0005	0.0005	2.988e-05	2.241e-05	0	0	0.0004	0	0.0006	0.0003	0	0.0006	0.0006	0.0006	0.0005	0.0012	0.0005	0.0004	0.0010	0.0009	4.826e-05	0	0	0.0003	0	9.416e-05	0	0.0012	0	0	0.002	0.72154	D	0.005	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.002323	0.36766	N	0.234215	0.999669	0.48141	D	0.955	0.23872	L	2.22	0.18248	T	-5.21	0.86758	D	0.604	0.62188	-1.1035	0.03693	T	0.071	0.28839	T	10	0.19845343	0.35816	T	0.027109	0.49956	D	0.152	0.39956	.	.	0.658368657282	0.65551	0.5773139338383869	0.57660	0.6537391267	0.58494	0.639196276665	0.58449	T	0.033782	0.35996	T	-0.429063	0.01502	T	-0.39246	0.34263	T	0.240698795180042	0.22452	T	0.938006	0.86318	D	0.46084386	0.64723	0.40811008	0.65137	0.46084386	0.64724	0.40811008	0.65137	-8.378	0.63619	D	.	.	0.354	0.60725	A	.;.;.;.;.	.;.;.;.;.	6.217705	0.94815	34	0.99466919126417275	0.66102	0.71308	0.34957	D	AEFDGBHCI	0.326062	0.42746	N	0.282609723416381	0.55266	3.690828	0.248718007340489	0.52579	3.43161	0.999217672312103	0.38775	0.67177	0.52595	0	0.702456	0.74545	0	0.779548	0.98927	0	0.635551	0.53088	0	.	.	4.54	4.54	0.55220	0.859000	0.27513	5.964000	0.51876	0.651000	0.53179	0.603000	0.27772	1.000000	0.68203	0.968000	0.53726	0.0:0.0:0.0:1.0	11.867	0.51779	389	0.83303	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	312.98	39	chr17	45396221	.	T	C	312.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.058;DP=776;ExcessHet=0.0000;FS=1.283;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.63;ReadPosRankSum=-7.430e-01;SOR=0.926	GT:AD:DP:GQ:PL	0/1:27,14:41:99:327,0,788	20	0	1	0
chr17	48578049	48578049	G	A	exonic	HOXB4	.	nonsynonymous SNV	HOXB4:NM_024015:exon1:c.C271T:p.P91S,	.	.	464	1055	3	0	0	3	0.00141978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.01	B	0.002	B	0.368	N	1.000	D	1.11	L	0.27	T	-0.966	T	0.126	T	0.237	0.827	8.333	1.26	0.385	3.025	3.280	0.115	.	.	0.00279553	0.0252	0	0.0263	0	0.0357	0.0351	0	0	0.0012031	186	154602	rs201123784	0.0107	0.0085	0.0108	0.0106	0.0117	0.0105	0.0105	0.0116	0.0115	0.0014	0.0029	0.0013	3.838e-05	0.0123	0.0010	0.0117	0.0076	0.0025	0.0063	0.0064	0.0062	0.0065	0.0100	0.0060	0.0059	0.0093	0.0091	0.0016	0	0.0042	0.0009	0	0.0133	0	0.0100	0.0029	0.0013	0.171	0.22746	T	0.114	0.36765	T	0.01	0.15535	B	0.002	0.06944	B	0.368085	0.04345	N	1.518660	1	0.81001	D	0.85	0.21244	L	0.27	0.59176	T	-1.88	0.43906	N	0.23	0.25867	-0.9662	0.37974	T	0.126	0.43132	T	10	0.0060742795	0.00136	T	.	.	.	0.115	0.32236	.	.	.	.	0.4654450868570817	0.46463	0.837374831212	0.67867	0.92933177948	0.98949	D	0.358	0.72471	T	-0.460204	0.00980	T	-0.41423	0.31738	T	0.0633194170638443	0.07681	T	0.373463	0.08871	T	0.042769287	0.06547	0.09616878	0.22838	0.042769287	0.06546	0.09616878	0.22837	-4.458	0.30335	T	.	.	0.077	0.06250	B	.	.	3.269957	0.44761	22.0	0.9644697570870423	0.29851	0.73821	0.36108	D	AEFDBHCI	0.591215	0.58740	D	-0.516723458312194	0.21539	1.143832	-0.424844734458476	0.24271	1.328144	0.999999994900721	0.74766	0.59774	0.34471	0	0.56911	0.20461	1	0.596491	0.31596	0	0.492483	0.08430	1	.	.	3.38	1.26	0.20534	4.416000	0.59567	7.747000	0.68085	0.491000	0.22372	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.145:0.0:0.5947:0.2603	3.280	0.06504	654	0.62520	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	597.02	9	chr17	48578049	.	G	A	597.02	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.06;DP=303;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=24.88;ReadPosRankSum=-2.670e-01;SOR=0.473	GT:AD:DP:GQ:PL	0/1:6,18:24:99:611,0,167	20	0	1	0
chr17	48852620	48852620	A	G	exonic	CALCOCO2	.	nonsynonymous SNV	CALCOCO2:NM_001261393:exon7:c.A691G:p.T231A	.	.	439	1081	1	1	0	3	0.00138568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.549	P	0.32	B	0.138	N	1.000	N	1.445	L	3.44	T	-1.057	T	0.042	T	0.146	2.603	14.67	4.25	2.013	0.767	6.321	0.070	0.00442720637089	0.0038	0.000399361	0.0025	0.0012	0.0023	0	0.0011	0.0036	0.0022	0.0007	0.0025032	387	154602	rs17849804	0.0038	0.0039	0.0039	0.0038	0.0046	0.0038	0.0037	0.0045	0.0045	0.0007	0.0027	0.0013	0	0.0006	0	0.0046	0.0028	0.0010	0.0027	0.0027	0.0026	0.0027	0.0041	0.0024	0.0024	0.0037	0.0036	0.0009	0.0033	0.0038	0.0009	0	0.0009	0.0034	0.0041	0.0028	0.0006	0.04	0.42487	D	0.512	0.23914	T	0.19	0.29379	B	0.078	0.28627	B	0.137787	0.18401	N	0.445427	1	0.08975	N	1.905	0.50856	L	2.6	0.21291	T	-1.3	0.49684	N	0.051	0.06854	-1.0566	0.12621	T	0.042	0.18035	T	10	0.0062663257	0.00141	T	0.004427	0.10844	T	0.070	0.20419	.	.	0.408579541211	0.40476	0.07096164483218659	0.07033	0.280342717543	0.30512	0.359655410051	0.19336	T	0.001765	0.01186	T	-0.550644	0.00289	T	-0.562923	0.16103	T	0.016661089034933	0.00425	T	0.634936	0.24909	T	0.05571563	0.10867	0.06638108	0.13589	0.05571563	0.10866	0.06638108	0.13588	-3.607	0.18437	T	.	.	0.099	0.17615	B	.;.;.;.;.;.	.;.;.;.;.;.	1.695470	0.21600	15.27	0.99543535012934059	0.70648	0.17642	0.19925	N	AEFGBI	0.160782	0.28676	N	-0.383259618669213	0.26065	1.419702	-0.341100121327739	0.26785	1.48178	0.00531841588694961	0.10898	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.33	4.25	0.49658	0.772000	0.26309	1.972000	0.29992	0.756000	0.94297	0.001000	0.13787	0.030000	0.21233	0.998000	0.85391	0.7538:0.1618:0.0844:0.0	6.321	0.20421	740	0.53092	.;.;.;.;.;.	.	.	.	.	.	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	0.02381	1358.98	39	chr17	48852620	.	A	G	1358.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.280e-01;DP=802;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=-4.280e-01;SOR=0.679	GT:AD:DP:GQ:PL	0/1:44,57:101:99:1373,0,1058	20	0	1	0
chr17	49152882	49152882	C	-	exonic	B4GALNT2	.	frameshift deletion	B4GALNT2:NM_001159387:exon4:c.436delC:p.L147Cfs*23	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.057e-06	2.052e-06	1.364e-06	2.758e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	9.006e-07	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3173.94	33	chr17	49152881	.	GC	G	3173.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.058e+00;DP=936;ExcessHet=0.0000;FS=0.486;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=0.949;SOR=0.661	GT:AD:DP:GQ:PL	0/1:113,113:226:99:3188,0,3103	20	0	1	0
chr17	54915813	54915813	T	C	exonic	TOM1L1	.	nonsynonymous SNV	TOM1L1:NM_001321174:exon5:c.T440C:p.M147T	.	.	437	1082	2	0	1	3	0.000923361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.080	N	0.856	N	-1.495	N	1.09	T	-1.033	T	0.019	T	0.31	-0.303	2.554	5.1	2.371	0.270	9.898	0.123	.	7.7e-05	0.000798722	0.0010	0	0	0.0137	0	0	0	0.0002	0.0008667	134	154602	rs146206619	0.0003	0.0003	0.0003	0.0003	0.0111	0.0003	0.0003	0.0102	0.0099	0	2.239e-05	0	0.0111	0	0.0005	0	0.0005	0.0003	0.0004	0.0004	0.0004	0.0004	0.0112	0.0003	0.0003	0.0089	0.0081	0	0	0	0	0.0112	0	0	0	0	0.0004	1.0	0.00964	T	0.8	0.14544	T	0.0	0.02946	B	0.001	0.04355	B	0.080199	0.20940	N	0.513806	0.856193	0.35307	D	-2.02	0.00184	N	1.09	0.39223	T	1.52	0.00737	N	0.252	0.30347	-1.0329	0.19522	T	0.019	0.07986	T	10	0.006843716	0.00156	T	.	.	.	0.123	0.34020	.	.	0.262175524916	0.25828	0.5295596218727323	0.52879	0.136471735538	0.15394	0.427907258272	0.28923	T	0.042977	0.26354	T	-0.504221	0.00541	T	-0.484731	0.23944	T	0.0255795874747887	0.01350	T	0.717028	0.36163	T	0.08308243	0.19169	0.090622924	0.21262	0.08308243	0.19168	0.090622924	0.21261	0.276	0.00265	T	.	.	0.105	0.27283	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.919472	0.24382	16.37	0.63957441454497987	0.07363	0.73891	0.36142	D	AEFBI	0.192687	0.31983	N	-0.592636849732585	0.19167	1.001021	-0.265060063482968	0.29258	1.637747	0.00912111165560807	0.11800	0.719381	0.83141	0	0.633656	0.55848	0	0.723133	0.82415	0	0.668105	0.65232	0	.	.	6.17	5.1	0.68917	0.212000	0.17289	1.203000	0.24851	0.665000	0.62972	0.987000	0.36337	1.000000	0.68203	0.992000	0.67800	0.0:0.0784:0.0:0.9215	9.898	0.40498	683	0.59664	.;GAT domain|GAT domain;GAT domain|GAT domain;.;GAT domain;GAT domain|GAT 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	0.02381	1284.98	33	chr17	54915813	.	T	C	1284.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.236e+00;DP=823;ExcessHet=0.0000;FS=3.332;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.71;ReadPosRankSum=1.37;SOR=0.489	GT:AD:DP:GQ:PL	0/1:61,59:120:99:1299,0,1459	20	0	1	0
chr17	58197059	58197059	T	C	exonic	EPX	.	nonsynonymous SNV	EPX:NM_000502:exon7:c.T922C:p.F308L,	.	.	0	1480	39	3	0	45	0.014975	.	.	727311	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.999	D	0.971	D	0.000	D	1.000	D	3.165	M	-0.5	T	0.227	D	0.497	T	0.738	4.289	22.4	4.86	1.951	7.996	12.705	0.785	0.0725778896181	0.0062	0.00279553	0.0067	0.0014	0.0029	0	0.0092	0.0087	0.0055	0.0072	0.0064488	997	154602	rs149610649	0.0076	0.0076	0.0076	0.0076	0.0160	0.0075	0.0074	0.0133	0.0123	0.0010	0.0027	0.0123	0	0.0085	0.0160	0.0081	0.0077	0.0075	0.0057	0.0057	0.0057	0.0057	0.0078	0.0054	0.0053	0.0073	0.0071	0.0012	0.0450	0.0035	0.0118	0.0002	0.0093	0.0068	0.0078	0.0071	0.0068	0.002	0.72154	D	0.026	0.55759	D	0.999	0.77913	D	0.971	0.72444	D	0.000001	0.84330	D	0.095382	0.999989	0.54805	D	3.06	0.86941	M	-0.5	0.70480	T	-5.7	0.87380	D	0.824	0.81957	0.227	0.86358	D	0.497	0.80975	T	10	0.043982953	0.03305	T	0.072578	0.71569	D	0.785	0.92868	0.886	0.97130	0.875175159558	0.87395	0.8966915860879832	0.89640	0.590118309936	0.54487	0.703837811947	0.67699	T	0.688804	0.90932	D	-0.150836	0.28180	T	0.0162486	0.71388	D	0.0189775306159021	0.00606	T	0.958004	0.84234	D	0.90420324	0.91761	0.86362016	0.92427	0.90420324	0.91763	0.86362016	0.92427	-10.47	0.76675	D	0.5205915827010262	0.59292	0.987	0.92737	P	.	.	4.327384	0.66282	24.9	0.99858997963407858	0.93729	0.97996	0.78734	D	AEFDGBI	0.921197	0.89430	D	0.79900771499237	0.86044	8.760883	0.714295999287583	0.83462	8.028341	0.477847431519886	0.20760	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.86	4.86	0.62624	6.221000	0.72188	5.069000	0.47160	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:0.0:1.0	12.705	0.56423	557	0.71576	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	4596.98	37	chr17	58197059	.	T	C	4596.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.300e-01;DP=1099;ExcessHet=0.0000;FS=1.744;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.41;ReadPosRankSum=1.00;SOR=0.828	GT:AD:DP:GQ:PL	0/1:220,183:403:99:4611,0,5733	20	0	1	0
chr17	61968034	61968034	C	G	splicing	MED13	NM_005121:exon18:c.4191+1G>C	.	.	.	YES	.	.	.	.	.	.	.	1.0000	0.938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.639	25.4	5.44	2.535	7.487	19.245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.588e-05	0.0003	2.232e-05	2.945e-05	3.23e-05	1.91e-05	1.667e-05	2.345e-05	2.075e-05	3.058e-05	0	0	0	0	0	3.23e-05	1.685e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434982	0.91780	D	0.387045	0.91678	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.230299	0.94839	34	0.99425828103495784	0.63984	0.99078	0.90902	D	AEFDGBI	.	.	.	1.18346581302745	0.99385	22.32749	1.03762206024886	0.99231	21.357	0.999999999803192	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.128073	0.03558	0	0.089874	0.02613	0	0.978971	0.83387	5.44	5.44	0.79348	7.568000	0.81546	7.706000	0.66547	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.245	0.93883	91	0.96221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	576.98	48	chr17	61968034	.	C	G	576.98	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-9.620e-01;DP=1240;ExcessHet=7.7275;FS=188.533;InbreedingCoeff=-0.4183;MLEAC=12;MLEAF=0.316;MQ=60.00;MQRankSum=0.00;QD=1.00;ReadPosRankSum=0.939;SOR=11.843	GT:AD:DP:GQ:PL	0/1:36,26:70:99:106,0,420	8	0	11	2
chr17	63481680	63481680	G	A	exonic	ACE	.	nonsynonymous SNV	ACE:NM_001382701:exon5:c.G208A:p.G70R	Renal tubular dysgenesis, Autosomal recessive	.	0	1512	10	0	0	10	0.00329598	.	.	345306	Hemorrhage,_intracerebral,_susceptibility_to|Microvascular_complications_of_diabetes,_susceptibility_to,_3|Renal_tubular_dysgenesis_of_genetic_origin|Renal_tubular_dysgenesis|not_provided	MONDO:MONDO:0100533,MedGen:C3281105,OMIM:614519|MONDO:MONDO:0012963,MedGen:C2675470,OMIM:612624|MONDO:MONDO:0009970,MedGen:C5681536,OMIM:267430,Orphanet:97369|Human_Phenotype_Ontology:HP:0008660,MONDO:MONDO:0017609,MedGen:C0266313,Orphanet:3033|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.22	T	1.0	D	0.998	D	0.000	D	1.000	D	3.435	M	0.55	T	-0.207	T	0.279	T	0.676	3.645	18.53	4.33	2.231	6.263	17.028	0.318	.	0.0065	0.00379393	0.0078	0.0011	0.0033	0	0.0262	0.0105	0.0077	0.0015	0.0075355	1165	154602	rs56394458	0.0087	0.0087	0.0087	0.0086	0.0095	0.0085	0.0085	0.0093	0.0093	0.0015	0.0044	0.0008	2.519e-05	0.0235	0.0066	0.0095	0.0066	0.0019	0.0071	0.0071	0.0064	0.0078	0.0091	0.0068	0.0066	0.0085	0.0083	0.0018	0	0.0046	0.0012	0	0.0279	0.0034	0.0091	0.0057	0.0014	0.012	0.55530	D	0.004	0.76473	D	1.0	0.90584	D	0.998	0.88582	D	0.000002	0.62929	D	0.000000	1	0.81001	D	3.545	0.93219	H	0.55	0.54728	T	-3.27	0.65512	D	0.819	0.81459	-0.2070	0.77491	T	0.279	0.65119	T	10	0.016649961	0.00352	T	.	.	.	0.318	0.64008	0.394	0.41935	0.848307341727	0.84685	0.3805313184583944	0.37968	0.22178067715	0.24716	0.630038380623	0.57151	T	0.031829	0.43276	T	-0.216507	0.18473	T	-0.0701487	0.65616	T	0.0555810719895859	0.06454	T	0.927707	0.75038	D	0.43089223	0.62810	0.4152924	0.65647	0.49997067	0.67094	0.43169975	0.66779	-11.149	0.80469	D	0.6279207330342891	0.69699	0.194	0.43421	B	.;.	.;.	5.222411	0.87654	29.3	0.99832042966239665	0.91370	0.98718	0.85968	D	AEFDBI	0.892225	0.82895	D	0.54342816753885	0.69681	5.391903	0.517359654235633	0.69156	5.320651	0.999999951504153	0.74766	0.460665	0.09802	0	0.547309	0.14657	0	0.603688	0.36954	0	0.636168	0.56350	0	.	.	4.33	4.33	0.51083	6.578000	0.73920	8.592000	0.77691	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.931000	0.46843	0.0:0.0:1.0:0.0	17.028	0.86326	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1204.98	35	chr17	63481680	.	G	A	1204.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.053;DP=814;ExcessHet=0.0000;FS=0.732;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.81;ReadPosRankSum=-1.349e+00;SOR=0.613	GT:AD:DP:GQ:PL	0/1:50,52:102:99:1219,0,1186	20	0	1	0
chr17	63821418	63821418	C	T	exonic	FTSJ3	.	nonsynonymous SNV	FTSJ3:NM_017647:exon16:c.G1822A:p.E608K,	.	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.83	T	0.017	B	0.042	B	0.753	N	1.000	N	0	N	1.51	T	-1.021	T	0.037	T	0.171	0.031	4.173	2.94	1.333	0.104	8.068	0.047	0.00573805166869	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1332018072	9.577e-06	9.577e-06	1.225e-05	6.876e-06	0.0003	5.56e-06	4.35e-06	6.131e-05	2.536e-05	0	0	0	0	0	0.0003	8.993e-06	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.637	0.05046	T	0.737	0.05036	T	0.017	0.17573	B	0.042	0.24114	B	0.752812	0.06494	N	1.115140	1	0.08975	N	0	0.06538	N	1.51	0.30937	T	0.02	0.06739	N	0.103	0.08646	-1.0206	0.23519	T	0.037	0.16029	T	10	0.046037227	0.03745	T	0.005738	0.14892	T	0.047	0.12962	0.248	0.18447	0.0884992946249	0.08302	0.13326623901729018	0.13250	0.134690004748	0.15179	0.239518612623	0.02747	T	8.38E-4	0.00412	T	-0.283232	0.10329	T	-0.629133	0.10480	T	0.0319145800861741	0.02292	T	0.423058	0.11286	T	0.03751326	0.04824	0.036395274	0.03078	0.03751326	0.04824	0.036395274	0.03077	-4.831	0.34951	T	.	.	0.068	0.02829	B	.	.	0.911984	0.12864	9.376	0.45366371385554205	0.03555	0.22063	0.21619	N	AEFDBCI	0.056585	0.10471	N	-1.18324381752551	0.05253	0.2390387	-1.12150697800795	0.07290	0.3540449	0.999999456764568	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.97	2.94	0.33188	0.073000	0.14504	-0.027000	0.12846	-0.803000	0.03144	0.000000	0.06391	0.000000	0.08366	0.058000	0.15825	0.0:0.81:0.0:0.19	8.068	0.29835	856	0.34373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4253.98	35	chr17	63821418	.	C	T	4253.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.810e-01;DP=1150;ExcessHet=0.0000;FS=0.842;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=-6.450e-01;SOR=0.633	GT:AD:DP:GQ:PL	0/1:158,168:326:99:4268,0,3953	20	0	1	0
chr17	63825574	63825574	T	C	exonic	FTSJ3	.	nonsynonymous SNV	FTSJ3:NM_017647:exon6:c.A362G:p.N121S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.645	M	1.49	T	-0.650	T	0.206	T	0.292	1.277	10.17	4.89	2.043	7.226	12.499	0.506	0.0697488919075	.	.	8.242e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs775548004	4.106e-06	4.789e-06	2.723e-06	5.502e-06	2.988e-05	1.48e-06	9.7e-07	7.2e-07	2e-07	2.988e-05	0	0	0	0	0	2.699e-06	3.313e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999981	0.54805	D	3.405	0.91733	M	1.49	0.31470	T	-4.85	0.81107	D	0.869	0.86618	-0.6501	0.62710	T	0.206	0.56403	T	10	0.73690754	0.74684	D	0.069749	0.70816	D	0.506	0.78724	.	.	0.430579932962	0.42676	0.6818300261597325	0.68122	0.479578996865	0.46990	0.760000526905	0.75928	T	0.133901	0.46484	T	-0.111759	0.34478	T	-0.301457	0.44571	T	0.98145204782486	0.73921	D	0.997507	0.98978	D	0.90007603	0.91389	0.77782136	0.86895	0.90007603	0.91390	0.77782136	0.86896	-8.925	0.67213	D	.	.	0.302	0.53119	B	.;.	.;.	4.728450	0.76132	26.5	0.8282138889682169	0.14392	0.96825	0.71142	D	AEFBCI	0.855873	0.77303	D	0.692389146790395	0.79133	7.013927	0.604364046072604	0.75257	6.278572	0.999999999991166	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	4.89	4.89	0.63387	7.214000	0.77458	7.947000	0.75742	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.841000	0.39698	0.0:0.0:0.0:1.0	12.499	0.55288	856	0.34373	Ribosomal RNA methyltransferase FtsJ domain;Ribosomal RNA methyltransferase FtsJ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3309.98	33	chr17	63825574	.	T	C	3309.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.50;DP=1082;ExcessHet=0.0000;FS=4.518;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.96;ReadPosRankSum=0.229;SOR=0.945	GT:AD:DP:GQ:PL	0/1:166,136:302:99:3324,0,3993	20	0	1	0
chr17	63941038	63941038	C	G	exonic	SCN4A	.	nonsynonymous SNV	SCN4A:NM_000334:exon24:c.G5244C:p.K1748N,	Hyperkalemic periodic paralysis, type 2, Autosomal dominant;Hypokalemic periodic paralysis, type 2, Autosomal dominant;Myasthenic syndrome, congenital, 16, Autosomal recessive;Myotonia congenita, atypical, acetazolamide-responsive, Autosomal dominant;Paramyotonia congenita, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.918	D	0.001	N	0.981	D	3.07	M	-4.04	D	1.043	D	0.927	D	0.189	3.234	16.84	3.89	2.180	0.319	9.244	0.580	0.303557141155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.468e-05	0.0004	3.138e-05	1.791e-05	5.983e-05	1.807e-05	1.604e-05	2.122e-05	1.866e-05	5.983e-05	0	0	2.52e-05	0	0	2.975e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.008	0.67890	D	0.996	0.68779	D	0.918	0.65394	D	0.001323	0.39379	N	0.266717	0.981377	0.39770	D	3.46	0.92336	M	-4.04	0.96465	D	-2.91	0.60982	D	0.415	0.45520	1.043	0.97979	D	0.927	0.97601	D	10	0.6123196	0.67513	D	0.303557	0.90961	D	0.580	0.83081	0.384	0.40298	0.898534176303	0.89752	0.5995780334703891	0.59888	0.692431633833	0.60665	0.752315163612	0.74788	T	0.685387	0.90803	D	0.120235	0.66394	D	-0.0650671	0.65976	T	0.989463925361633	0.79699	D	0.831017	0.49766	T	0.7440135	0.80523	0.5270589	0.72675	0.7440135	0.80524	0.5270589	0.72675	-7.785	0.59595	D	0.2770756796120702	0.37175	0.930	0.85031	P	.	.	3.060384	0.41100	21.3	0.99839407367986555	0.91972	0.85331	0.44454	D	AEFDBI	0.586077	0.58426	D	0.579656383859094	0.71907	5.72267	0.473874561743895	0.66263	4.929493	0.870675316718076	0.25410	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	3.89	3.89	0.44098	0.425000	0.21065	0.146000	0.15234	0.599000	0.40250	0.993000	0.37899	0.937000	0.28687	0.926000	0.46234	0.0:0.9002:0.0:0.0998	9.244	0.36672	834	0.38640	IQ motif, EF-hand binding site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	416.88	220	chr17	63941038	.	C	G	416.88	.	AC=6;AF=0.214;AN=28;BaseQRankSum=-5.194e+00;DP=3372;ExcessHet=1.7912;FS=313.201;InbreedingCoeff=-0.3107;MLEAC=8;MLEAF=0.286;MQ=60.00;MQRankSum=0.00;QD=0.33;ReadPosRankSum=0.282;SOR=13.047	GT:AD:DP:GQ:PL	0/1:175,70:278:76:76,0,3507	8	0	6	7
chr17	65197209	65197209	G	A	exonic	RGS9	.	nonsynonymous SNV	RGS9:NM_001081955:exon13:c.G935A:p.S312N	Bradyopsia	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.003	B	0.005	B	0.000	D	0.584	D	0.695	N	4.51	T	-0.960	T	0.006	T	0.106	2.077	12.90	5.27	2.468	6.050	10.125	0.084	0.00369515167783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.841e-07	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	0.11156	T	0.469	0.12281	T	0.001	0.07471	B	0.003	0.11217	B	0.000001	0.84330	D	0.096565	0.583565	0.32395	D	0.695	0.17993	N	4.51	0.02015	T	0.36	0.03700	N	0.149	0.17691	-0.9603	0.39124	T	0.006	0.02018	T	10	0.32273042	0.49619	T	0.003695	0.08527	T	0.084	0.24469	0.471	0.54537	0.520854953866	0.51730	0.6165367456781605	0.61585	0.173124322031	0.19496	0.693837344646	0.66257	T	0.009365	0.53346	T	-0.278149	0.10866	T	-0.637318	0.09866	T	0.836281597614288	0.49027	D	0.732627	0.34815	T	0.1887908	0.40393	0.17777571	0.40403	0.1887908	0.40393	0.17777571	0.40402	-3.974	0.25157	T	0.08201303454841109	0.04293	0.145	0.34116	B	.;.;.;.	.;.;.;.	2.801280	0.36851	20.4	0.93393422177013086	0.23148	0.82986	0.42144	D	AEFBI	0.510082	0.53928	D	-0.100218921140115	0.37383	2.174131	0.115587155817107	0.45344	2.799354	0.977608012588753	0.29837	0.554377	0.28877	0	0.593476	0.48661	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.27	5.27	0.73797	6.096000	0.71091	11.310000	0.92434	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.123:0.0:0.877:0.0	10.125	0.41820	406	0.82375	RGS domain|RGS domain|RGS domain|RGS domain;RGS domain|RGS domain|RGS domain|RGS domain;.;RGS domain|RGS domain|RGS domain|RGS 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	0.02381	1173.98	36	chr17	65197209	.	G	A	1173.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.545e+00;DP=811;ExcessHet=0.0000;FS=1.712;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=-7.200e-02;SOR=0.482	GT:AD:DP:GQ:PL	0/1:42,52:94:99:1188,0,994	20	0	1	0
chr17	68903472	68903472	G	A	exonic	ABCA8	.	nonsynonymous SNV	ABCA8:NM_001375771:exon18:c.C2243T:p.A748V	.	.	437	1049	35	1	0	37	0.0173302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.003	B	0.005	B	0.441	N	1.000	N	0.84	L	-0.97	T	-1.002	T	0.193	T	0.028	1.003	9.097	-4.32	-0.846	-0.967	3.460	0.052	.	0.0003	0.00199681	0.0017	0	0	0	0	0.0004	0.0044	0.0107	0.0014683	227	154602	rs184161214	0.0010	0.0010	0.0007	0.0014	0.0115	0.0010	0.0010	0.0109	0.0107	2.987e-05	0.0005	0.0002	0	0	0.0066	0.0003	0.0016	0.0115	0.0008	0.0008	0.0006	0.0010	0.0148	0.0007	0.0006	0.0120	0.0110	4.822e-05	0	0.0003	0.0003	0.0002	0	0	0.0005	0.0014	0.0148	0.568	0.06381	T	0.491	0.14412	T	0.002	0.09854	B	0.002	0.06944	B	0.440630	0.04758	N	1.409270	1	0.08975	N	0.695	0.17993	N	-0.97	0.75670	T	0.58	0.03041	N	0.069	0.04188	-1.0025	0.29197	T	0.193	0.54667	T	10	0.0037364364	0.00069	T	.	.	.	0.052	0.14661	.	.	0.469578130381	0.46583	0.14823423802511468	0.14745	0.0573251470501	0.06345	0.262227773666	0.05158	T	0.037209	0.37060	T	-0.61317	0.00121	T	-0.644158	0.09368	T	0.00532305861954774	0.00058	T	0.275172	0.06971	T	0.019498836	0.00482	0.031217244	0.01680	0.019498836	0.00482	0.031217244	0.01680	.	.	.	.	.	0.067	0.03266	B	.;.;.	.;.;.	-0.368211	0.02333	0.251	0.70904960446772303	0.09450	0.05502	0.11389	N	AEFBHCI	0.136810	0.25760	N	-1.48736639363359	0.01938	0.08510498	-1.53869890657539	0.02055	0.09393695	9.66251316486085E-5	0.04910	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.43	-4.32	0.03433	-0.756000	0.04882	-6.269000	0.01447	-0.546000	0.04920	0.000000	0.06391	0.000000	0.08366	0.103000	0.18424	0.1687:0.2995:0.4231:0.1087	3.460	0.07097	964	0.07719	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	5514.92	34	chr17	68903472	.	G	A	5514.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-6.740e-01;DP=1042;ExcessHet=0.6776;FS=0.547;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=12.48;ReadPosRankSum=0.198;SOR=0.762	GT:AD:DP:GQ:PL	0/1:40,62:102:99:1513,0,1013	17	0	4	0
chr17	75522094	75522094	G	T	exonic	TSEN54	.	nonsynonymous SNV	TSEN54:NM_207346:exon8:c.G1013T:p.C338F,	Pontocerebellar hypoplasia type 2A, Autosomal recessive;Pontocerebellar hypoplasia type 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.997	D	0.85	P	0.002	N	0.893	D	1.87	L	0.39	T	-0.472	T	0.252	T	0.31	1.413	10.66	4.36	1.221	2.823	13.200	0.102	0.077847147298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.40068	D	0.141	0.33442	T	0.997	0.70673	D	0.85	0.60657	P	0.002409	0.36612	N	0.308847	0.892501	0.35984	D	2.685	0.78553	M	0.39	0.57419	T	-3.04	0.62863	D	0.439	0.47765	-0.4725	0.69637	T	0.252	0.62178	T	10	0.38876396	0.54736	T	0.077847	0.72868	D	0.102	0.29158	0.299	0.26522	0.723311353475	0.72086	0.3933228605534309	0.39247	1.06429463323	0.76581	0.515867054462	0.41044	T	0.016941	0.13909	T	-0.0600095	0.42905	T	-0.323976	0.42138	T	0.958878219127655	0.65386	D	0.728327	0.34315	T	0.29517838	0.52469	0.36582622	0.61923	0.29517838	0.52469	0.36582622	0.61923	-1.032	0.01035	T	0.19780987218163687	0.26172	0.326	0.54968	B	.	.	4.564840	0.71961	25.8	0.92904503263828053	0.22461	0.81384	0.40798	D	AEFBCI	0.368927	0.45585	N	0.424807434660804	0.62788	4.500803	0.387682509567875	0.60805	4.27227	0.997351796488308	0.35530	0.706298	0.61202	0	0.702456	0.74545	0	0.570548	0.19454	0	0.613276	0.41899	0	.	.	5.33	4.36	0.51643	3.099000	0.49958	11.804000	0.96737	0.662000	0.56354	0.998000	0.41325	1.000000	0.68203	0.938000	0.47775	0.0:0.0:0.7104:0.2896	13.200	0.59187	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1963.98	34	chr17	75522094	.	G	T	1963.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.910e-01;DP=923;ExcessHet=0.0000;FS=1.924;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=0.728;SOR=0.530	GT:AD:DP:GQ:PL	0/1:86,82:168:99:1978,0,2181	20	0	1	0
chr17	76072413	76072413	-	ACCGCCGCCGCCACTGCC	exonic	SRP68	.	nonframeshift insertion	SRP68:NM_001260502:exon1:c.78_79insGGCAGTGGCGGCGGCGGT:p.G26_S27insGSGGGG	.	.	0	224	2	0	0	2	0.00444444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	9.364e-05	0	0.0004	3.84e-05	1	26028	rs781272021	0.0003	0.0006	0.0003	0.0004	0.0011	0.0003	0.0003	0.0005	0.0003	0.0002	0.0004	0.0003	0.0002	0.0022	0.0011	0.0003	0.0006	0.0004	0.0011	0.0011	0.0009	0.0014	0.0021	0.0010	0.0009	0.0015	0.0013	0.0005	0	0.0021	0.0006	0.0008	0.0049	0.0069	0.0008	0.0014	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1404.94	34	chr17	76072413	.	T	TACCGCCGCCGCCACTGCC	1404.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.530e-01;DP=837;ExcessHet=0.0000;FS=0.895;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.73;ReadPosRankSum=-4.070e-01;SOR=0.505	GT:AD:DP:GQ:PL	0/1:42,42:84:99:1419,0,1575	20	0	1	0
chr17	78049486	78049486	G	A	exonic	TNRC6C	.	nonsynonymous SNV	TNRC6C:NM_001142640:exon4:c.G424A:p.G142R	.	.	422	1097	3	0	0	3	0.0013655	.	.	3336596	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.992	D	0.000	D	1.000	D	1.59	L	2.47	T	-1.102	T	0.106	T	0.917	1.255	10.09	5.36	2.782	4.622	19.277	0.189	0.0114249860197	0.0009	0.000399361	0.0005	0.0001	8.651e-05	0	0	0.0007	0	0.0002	0.000414	64	154602	rs143335497	0.0005	0.0005	0.0005	0.0005	0.0012	0.0005	0.0005	0.0006	0.0006	5.974e-05	0.0002	3.826e-05	0	0	0.0012	0.0006	0.0003	0.0003	0.0004	0.0004	0.0004	0.0004	0.0008	0.0003	0.0003	0.0006	0.0006	7.218e-05	0	0.0001	0	0	0	0	0.0008	0.0014	0.0002	0.055	0.38633	T	0.559	0.09144	T	1.0	0.90584	D	0.992	0.80445	D	0.000071	0.52346	D	0.166883	0.999996	0.58761	D	2.095	0.58118	M	2.45	0.15028	T	-1.01	0.26639	N	0.699	0.70351	-1.1016	0.03903	T	0.106	0.38587	T	10	0.05365655	0.05591	T	0.011425	0.29027	T	0.189	0.46613	0.373	0.38503	0.209943299407	0.20609	0.6778545626177612	0.67724	1.06120872424	0.76477	0.495253682137	0.38167	T	0.026141	0.19408	T	-0.086225	0.38697	T	0.0292537	0.72231	D	0.0831500962376595	0.10385	T	0.940206	0.77406	D	0.13018669	0.30385	0.1419931	0.33796	0.13018669	0.30384	0.1419931	0.33795	-4.285	0.28623	T	.	.	0.316	0.54477	B	.;.;.;.;.	.;.;.;.;.	4.882910	0.80103	27.2	0.9886118779252242	0.47476	0.92932	0.56903	D	AEFGBI	0.424906	0.48989	N	0.695756584150911	0.79355	7.060048	0.69634629986872	0.82098	7.684397	0.999999999980814	0.74766	0.719381	0.83141	0	0.615513	0.52658	0	0.723133	0.82415	0	0.662433	0.64102	0	.	.	5.36	5.36	0.76624	4.887000	0.62848	7.584000	0.61047	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:1.0:0.0	19.277	0.94023	851	0.35303	.;.;.;.;.	.	.	.	.	.	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	0.02381	2561.98	34	chr17	78049486	.	G	A	2561.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.780e-01;DP=894;ExcessHet=0.0000;FS=1.109;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.07;ReadPosRankSum=0.295;SOR=0.779	GT:AD:DP:GQ:PL	0/1:91,105:196:99:2576,0,2188	20	0	1	0
chr17	78202547	78202547	A	G	exonic	AFMID	.	nonsynonymous SNV	AFMID:NM_001010982:exon3:c.A203G:p.Y68C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.305	M	.	.	-0.139	T	0.413	T	0.911	3.402	17.49	4.69	1.962	6.479	12.503	0.709	0.237825063931	.	.	1.661e-05	0	0	0	0	1.511e-05	0	6.064e-05	1.29e-05	2	154602	rs774921922	2.052e-05	2.052e-05	2.314e-05	1.788e-05	5.797e-05	1.456e-05	1.264e-05	2.194e-05	1.43e-05	2.988e-05	2.236e-05	0	5.039e-05	0	0	1.619e-05	4.968e-05	5.797e-05	1.315e-05	1.313e-05	0	2.688e-05	0.0002	2.18e-06	8.2e-07	.	.	2.408e-05	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.375	0.98560	H	.	.	.	-7.87	0.96114	D	0.945	0.95256	-0.1392	0.79185	T	0.413	0.76048	T	9	0.9162302	0.90983	D	0.237825	0.88560	D	0.709	0.89605	0.704	0.84054	0.665779536129	0.66296	0.8866088477849828	0.88629	0.872070922046	0.69436	0.494601458311	0.38077	T	0.637311	0.88834	D	0.359382	0.87206	D	0.460598	0.93824	D	0.999556958675385	0.97890	D	0.89781	0.68535	D	0.8169603	0.85016	0.50416833	0.71339	0.8169603	0.85017	0.50416833	0.71340	-10.835	0.79190	D	.	.	0.364	0.73405	A	.;.;.;.	.;.;.;.	4.007376	0.59093	24.1	0.99809025341477042	0.89264	0.98012	0.78863	D	AEFBI	0.876597	0.80069	D	0.609461389200322	0.73772	6.021093	0.533842967269706	0.70280	5.482264	0.998492712327365	0.37071	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.69	4.69	0.58546	6.577000	0.73916	8.994000	0.78516	0.634000	0.51959	1.000000	0.71638	1.000000	0.68203	0.072000	0.16771	1.0:0.0:0.0:0.0	12.503	0.55311	923	0.18507	.;.;.;.	.	.	.	.	.	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	0.02381	1494.98	41	chr17	78202547	.	A	G	1494.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.930e-01;DP=1026;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=2.18;SOR=0.723	GT:AD:DP:GQ:PL	0/1:62,67:129:99:1509,0,1449	20	0	1	0
chr17	80885137	80885137	A	G	exonic	RPTOR	.	nonsynonymous SNV	RPTOR:NM_020761:exon17:c.A1972G:p.M658V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.0	B	0.0	B	0.000	N	1.000	D	0.83	L	1.38	T	-1.087	T	0.050	T	0.081	0.969	8.956	-0.119	-0.002	1.063	8.429	0.072	0.0108688925791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.56e-06	3.42e-06	4.219e-06	2.885e-06	3.696e-06	1.04e-06	7.6e-07	8.7e-07	5.8e-07	0	0	0	0	0	0	3.696e-06	1.715e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.303	0.14352	T	0.094	0.39645	T	0.0	0.02946	B	0.0	0.01387	B	0.000032	0.55875	N	0.118601	0.608912	0.81001	D	-0.895	0.01383	N	1.38	0.34050	T	-1.16	0.29727	N	0.215	0.24010	-1.0867	0.06102	T	0.050	0.21378	T	10	0.095544636	0.17073	T	0.010869	0.27894	T	0.072	0.21020	0.534	0.64293	0.117191471859	0.11215	0.357932321039279	0.35707	0.689860010486	0.60504	0.255832314491	0.04406	T	0.431022	0.77928	T	-0.289475	0.09688	T	-0.653587	0.08705	T	0.0974128916859627	0.12070	T	0.889911	0.62289	D	0.09160972	0.21470	0.07873759	0.17663	0.09160972	0.21469	0.07873759	0.17662	-4.79	0.34475	T	.	.	0.037	0.00007	B	.	.	0.749293	0.11188	7.825	0.79552010383278349	0.12793	0.38805	0.26071	N	AEFDBI	0.047864	0.08107	N	-0.77538519978521	0.13953	0.69125	-0.666542265245855	0.17800	0.9480692	0.379754693836013	0.19950	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.78	-0.119	0.12883	1.087000	0.30476	1.159000	0.24539	-0.208000	0.08445	0.820000	0.29989	0.241000	0.23851	0.945000	0.48827	0.6436:0.0:0.3564:0.0	8.429	0.31910	773	0.48803	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	645.98	35	chr17	80885137	.	A	G	645.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.750e-01;DP=797;ExcessHet=0.0000;FS=5.455;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.95;ReadPosRankSum=4.000e-03;SOR=1.258	GT:AD:DP:GQ:PL	0/1:60,33:93:99:660,0,1435	20	0	1	0
chr17	81106890	81106890	G	A	exonic	BAIAP2	.	nonsynonymous SNV	BAIAP2:NM_001385157:exon7:c.G754A:p.V252M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.99	D	0.507	P	0.004	N	0.924	N	1.445	L	1.91	T	-1.037	T	0.087	T	0.577	1.488	10.92	2.77	0.459	4.236	10.175	0.152	0.018677854566	.	.	0.0001	0	0.0003	0	0	0	0	0.0007	5.82e-05	9	154602	rs760813385	5.581e-05	5.951e-05	4.053e-05	7.142e-05	0.0005	4.554e-05	4.215e-05	0.0004	0.0003	0	5.028e-05	0	2.598e-05	4.037e-05	0.0002	2.663e-05	5.136e-05	0.0005	1.314e-05	1.313e-05	0	2.689e-05	0.0004	2.18e-06	8.2e-07	7.279e-05	3.025e-05	0	0	0	0	0	0	0	0	0	0.0004	0.216	0.38407	T	0.177	0.37730	T	0.903	0.60036	P	0.406	0.45338	B	0.003597	0.34740	N	0.273464	0.989178	0.27226	N	1.73	0.44655	L	1.4	0.33842	T	-0.4	0.15178	N	0.423	0.46274	-1.0366	0.18357	T	0.087	0.33802	T	10	0.12615547	0.23981	T	0.018678	0.40822	T	0.152	0.39956	0.367	0.37524	0.815302850236	0.81356	0.2386251048767557	0.23776	0.0410341155748	0.04401	0.501546740532	0.39043	T	0.190121	0.54457	T	-0.299762	0.08683	T	-0.321192	0.42443	T	0.138279422289467	0.16126	T	0.881612	0.60121	D	0.05505594	0.10648	0.071378164	0.15278	0.05505594	0.10647	0.071378164	0.15277	-9.065	0.70266	D	.	.	0.117	0.26138	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.891133	0.38292	20.7	0.98376271324980524	0.40801	0.96620	0.70057	D	AEFDBI	0.693560	0.65285	D	-0.064350687563439	0.38964	2.290271	-0.107924067414991	0.35070	2.024608	0.999265783248178	0.38940	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.78	2.77	0.31614	4.391000	0.59415	3.300000	0.37375	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.699000	0.34110	0.1677:0.0:0.8323:0.0	10.175	0.42111	.	.	.;.;.;.;.;.;.	.	.	.	.	.	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	0.02381	714.98	34	chr17	81106890	.	G	A	714.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.072;DP=765;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.54;ReadPosRankSum=-9.910e-01;SOR=0.712	GT:AD:DP:GQ:PL	0/1:27,30:57:99:729,0,629	20	0	1	0
chr17	81996013	81996013	C	G	exonic	ASPSCR1	.	nonsynonymous SNV	ASPSCR1:NM_001330528:exon5:c.C223G:p.R75G	Alveolar soft-part sarcoma	.	9	1509	4	0	0	4	0.00132363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.761	P	0.437	B	0.002	N	1.000	N	1.525	L	1.5	T	-1.045	T	0.078	T	0.339	0.006	4.046	3.48	1.223	1.169	10.008	0.083	0.0281606343701	.	.	0.0001	0	0.0001	0	0	0	0	0.0009	7.76e-05	12	154602	rs368561373	6.31e-05	6.293e-05	3.957e-05	8.69e-05	0.0012	5.242e-05	4.859e-05	0.0006	0.0006	2.99e-05	0.0001	0	0	0	0.0012	7.2e-06	9.961e-05	0.0008	2.629e-05	2.627e-05	0	5.384e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.069	0.38407	T	0.025	0.57104	D	0.761	0.43566	P	0.251	0.45591	B	0.001620	0.38497	N	0.284144	0.995205	0.23347	N	2.14	0.59869	M	1.5	0.31205	T	-2.87	0.61435	D	0.288	0.36464	-1.0447	0.15913	T	0.078	0.31012	T	10	0.050058126	0.04682	T	0.028161	0.50875	D	0.083	0.24192	0.476	0.55342	0.228597637076	0.22478	0.27902383912038564	0.27815	0.13878671293	0.15652	0.212815880775	0.00936	T	0.560292	0.85269	D	-0.422586	0.01647	T	-0.466522	0.25891	T	0.119641453027725	0.14395	T	0.854814	0.54490	D	0.10590469	0.25042	0.084382825	0.19406	0.10590469	0.25042	0.084382825	0.19406	-6.011	0.48477	T	.	.	0.189	0.40937	B	.;.;.;.	.;.;.;.	2.662221	0.34688	19.70	0.6499564150760091	0.07648	0.57776	0.30466	D	AEFDBHCI	0.186711	0.31401	N	-0.299762788570945	0.29159	1.614484	-0.31870443181742	0.27495	1.526062	0.999999999994148	0.74766	0.77792	0.99625	0	0.643519	0.57511	0	0.854111	0.99894	0	0.699875	0.68795	0	.	.	4.46	3.48	0.38946	1.126000	0.30958	3.237000	0.36943	-0.180000	0.10397	0.730000	0.28923	0.998000	0.33993	0.008000	0.08271	0.2017:0.7983:0.0:0.0	10.008	0.41142	.	.	.;.;.;.	.	.	.	.	.	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	0.02381	986.98	34	chr17	81996013	.	C	G	986.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.730e-01;DP=767;ExcessHet=0.0000;FS=1.965;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.71;ReadPosRankSum=0.712;SOR=0.965	GT:AD:DP:GQ:PL	0/1:31,41:72:99:1001,0,777	20	0	1	0
chr18	47397	47397	A	G	exonic	TUBB8B	.	nonsynonymous SNV	TUBB8B:NM_001358689:exon4:c.T1328C:p.V443A,	.	.	39	1474	3	0	6	9	0.0010166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.333	U	.	.	.	.	-1.17	T	-0.571	T	0.350	T	0.391	-0.824	0.613	-0.218	-1.418	-3.794	3.311	0.315	.	.	0.000998403	0.0048	0.0005	0.0031	0	0	0.0015	0	0.0208	0.0011319	175	154602	rs543847261	0.0013	0.0010	0.0008	0.0017	0.0098	0.0012	0.0012	0.0092	0.0090	4.533e-05	0.0007	0.0039	0	0	0.0037	0.0004	0.0012	0.0098	0.0006	0.0007	0.0006	0.0007	0.0071	0.0005	0.0005	0.0050	0.0044	0.0001	0	0.0006	0.0049	0	0	0	0.0005	0	0.0071	.	.	.	.	.	.	.	.	.	.	.	.	0.333067	0.14082	U	0.506720	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.5705	0.65994	T	0.350	0.71423	T	6	0.005631894	0.00125	T	.	.	.	0.315	0.63694	0.096	0.01287	0.104622674875	0.10061	0.045173317144472445	0.04461	.	.	.	.	.	.	.	.	-0.0386622	0.46147	T	-0.293312	0.45427	T	0.00136554006221872	0.00014	T	0.183482	0.01887	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.01367	B	.	.	0.287563	0.06639	3.138	0.23160061763672588	0.00966	0.00429	0.02107	N	AEFBI	0.027658	0.02299	N	-1.29934665267713	0.03684	0.1650012	-1.55233019148236	0.01960	0.08948774	1.11432894442766E-6	0.01202	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.109	-0.218	0.12495	-0.643000	0.05518	5.128000	0.47635	-0.517000	0.04986	0.000000	0.06391	1.000000	0.68203	0.015000	0.10482	0.3608:0.0:0.0:0.6391	3.311	0.06604	958	0.09170	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	440.11	19	chr18	47397	.	A	G	440.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.328e+00;DP=399;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=40.00;MQRankSum=0.00;QD=10.73;ReadPosRankSum=0.535;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,7:23:99:0|1:47397_A_G:246,0,651:47397	19	0	2	0
chr18	47400	47400	T	A	exonic	TUBB8B	.	nonsynonymous SNV	TUBB8B:NM_001358689:exon4:c.A1325T:p.E442V,	.	.	39	1474	3	0	6	9	0.0010166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.097	U	.	.	.	.	-0.56	T	-0.536	T	0.280	T	0.559	0.278	5.502	0.109	0.156	3.734	4.622	0.290	.	.	0.000998403	0.0045	0.0004	0.0028	0	0	0.0015	0	0.0194	5.17e-05	8	154602	rs562842438	0.0013	0.0010	0.0008	0.0017	0.0099	0.0012	0.0012	0.0093	0.0091	4.423e-05	0.0008	0.0039	0	0	0.0040	0.0004	0.0012	0.0099	0.0006	0.0007	0.0006	0.0007	0.0069	0.0005	0.0005	0.0048	0.0042	0.0001	0	0.0006	0.0049	0	0	0	0.0005	0	0.0069	.	.	.	.	.	.	.	.	.	.	.	.	0.096925	0.20052	U	0.416142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.5363	0.67304	T	0.280	0.65229	T	6	0.004152298	0.00082	T	.	.	.	0.290	0.60924	0.166	0.07071	0.529561333529	0.52604	0.19734100328541077	0.19651	.	.	.	.	.	.	.	.	0.00873099	0.52851	T	-0.225235	0.52233	T	0.0312173155624318	0.02180	T	0.279972	0.04873	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.24498	B	.	.	2.018511	0.25648	16.84	0.54138458118977728	0.05078	0.84034	0.43120	D	AEFBI	0.264245	0.38163	N	-0.455377350519853	0.23558	1.265943	-0.656872253338677	0.18044	0.9621582	7.32725240324717E-5	0.04552	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.109	0.109	0.13884	3.951000	0.56392	7.661000	0.64234	0.319000	0.19345	0.998000	0.41325	1.000000	0.68203	0.062000	0.16114	0.0:4.0E-4:0.0:0.9996	4.622	0.11842	958	0.09170	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	440.11	19	chr18	47400	.	T	A	440.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.198e+00;DP=404;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=40.00;MQRankSum=0.00;QD=10.73;ReadPosRankSum=0.234;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,7:23:99:0|1:47397_A_G:246,0,651:47397	19	0	2	0
chr18	2595447	2595447	C	A	exonic	NDC80	.	nonsynonymous SNV	NDC80:NM_006101:exon11:c.C1047A:p.N349K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.873	P	0.293	B	0.000	D	0.990	N	1.87	L	-0.05	T	-0.787	T	0.145	T	0.268	0.234	5.263	-2.43	-0.771	0.177	13.927	0.261	0.0367525072599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.837	0.02832	T	1.0	0.01155	T	0.873	0.47975	P	0.293	0.40773	B	0.000005	0.62929	D	0.136800	0.989832	0.24247	N	2.005	0.54552	M	-0.05	0.63403	T	-1.19	0.30346	N	0.269	0.30461	-0.7871	0.55898	T	0.145	0.46841	T	10	0.19870612	0.35851	T	0.036753	0.57192	D	0.261	0.57352	0.572	0.69564	0.303123707472	0.29912	0.251147822608034	0.25028	0.353559346183	0.37155	0.618942677975	0.55580	T	0.079298	0.36095	T	-0.128774	0.31694	T	-0.422751	0.30761	T	0.199529064463213	0.20390	T	0.748325	0.36895	T	0.06698012	0.14463	0.088192806	0.20548	0.06698012	0.14462	0.088192806	0.20548	-4.742	0.33908	T	.	.	0.310	0.53747	B	.	.	0.019792	0.04419	1.156	0.82474970559026028	0.14211	0.07358	0.13379	N	AEFBI	0.074237	0.14873	N	-0.793184436017742	0.13486	0.6647383	-0.899326469857472	0.12110	0.621023	0.828584781319687	0.24652	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.6	-2.43	0.06145	0.182000	0.16710	-0.806000	0.07354	-0.865000	0.02600	0.047000	0.21291	0.000000	0.08366	0.928000	0.46473	0.0:0.571:0.0:0.429	13.927	0.63476	728	0.54609	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	704.98	33	chr18	2595447	.	C	A	704.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.528;DP=761;ExcessHet=0.0000;FS=0.953;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.37;ReadPosRankSum=-3.700e-02;SOR=0.569	GT:AD:DP:GQ:PL	0/1:37,31:68:99:719,0,898	20	0	1	0
chr18	2937817	2937817	G	A	exonic	LPIN2	.	nonsynonymous SNV	LPIN2:NM_001375808:exon7:c.C1043T:p.P348L	Majeed syndrome	YES	0	1501	21	0	0	21	0.00694674	.	.	34370	not_provided|Majeed_syndrome|Autoinflammatory_syndrome	MedGen:C3661900|MONDO:MONDO:0012316,MedGen:C1864997,OMIM:609628,Orphanet:77297|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.18	T	0.0	B	0.001	B	0.018	N	1.000	N	1.435	L	-1.37	T	-0.746	T	0.341	T	0.71	1.782	11.92	2.87	0.304	3.107	9.471	0.471	0.0472440006302	0.0005	0.00119808	0.0015	9.61e-05	0.0005	0	0.0002	0.0013	0.0055	0.0050	0.0013713	212	154602	rs34676691	0.0010	0.0010	0.0008	0.0012	0.0071	0.0010	0.0010	0.0054	0.0048	8.961e-05	0.0006	0.0008	2.519e-05	5.616e-05	0.0071	0.0008	0.0010	0.0047	0.0007	0.0007	0.0008	0.0007	0.0039	0.0006	0.0006	0.0026	0.0021	0.0001	0	0.0005	0.0003	0	0	0.0102	0.0011	0.0024	0.0039	0.041	0.41915	D	0.191	0.28391	T	0.0	0.02946	B	0.001	0.04355	B	0.018035	0.27579	N	0.468640	1	0.08975	N	1.155	0.29575	L	-1.37	0.80214	T	-2.84	0.59873	D	0.163	0.17140	-0.7457	0.58159	T	0.341	0.70705	T	10	0.004683107	0.00098	T	0.047244	0.62833	D	0.471	0.76487	.	.	0.85556397381	0.85417	0.17955191147053634	0.17874	0.241005714091	0.26633	0.281983017921	0.07770	T	0.110259	0.42481	T	-0.201526	0.20586	T	-0.0619887	0.66193	T	0.0102228690827515	0.00139	T	0.730127	0.34567	T	0.05918796	0.11998	0.071224615	0.15228	0.056861125	0.11242	0.0612654	0.11800	-3.842	0.21433	T	0.103693821679052	0.08027	0.065	0.02012	B	.	.	2.156294	0.27469	17.47	0.69125950093582156	0.08873	0.66719	0.33176	D	AEFBI	0.079139	0.15979	N	-0.473775513693229	0.22942	1.228571	-0.419826692497712	0.24416	1.336864	0.997207291581435	0.35373	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.74	2.87	0.32523	2.408000	0.44227	4.225000	0.42617	0.676000	0.76740	0.191000	0.24200	0.998000	0.33993	0.745000	0.35611	0.0715:0.2706:0.6579:0.0	9.471	0.38007	741	0.52966	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1332.98	36	chr18	2937817	.	G	A	1332.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.66;DP=833;ExcessHet=0.0000;FS=3.741;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.33;ReadPosRankSum=-1.480e-01;SOR=1.079	GT:AD:DP:GQ:PL	0/1:51,49:100:99:1347,0,1243	20	0	1	0
chr18	5891375	5891386	GCGGCGGCGGCC	-	exonic	TMEM200C	.	nonframeshift deletion	TMEM200C:NM_001080209:exon3:c.678_689del:p.A227_A230del,	.	.	410	1039	39	3	31	76	0.0211964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0140	0	0	0	0	0.0020	0.0294	0.0172	3.23e-05	5	154602	rs753396480	0.0064	0.0057	0.0055	0.0074	0.0577	0.0063	0.0062	0.0557	0.0549	0.0040	0.0115	0.0032	0.0109	0.0028	0.0093	0.0044	0.0069	0.0577	0.0048	0.0048	0.0042	0.0055	0.0319	0.0045	0.0044	0.0277	0.0262	0.0031	0	0.0034	0.0021	0.0078	0.0032	0.0106	0.0046	0.0039	0.0319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1120.07	35	chr18	5891374	.	GGCGGCGGCGGCC	G	1120.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.73;DP=747;ExcessHet=0.1072;FS=27.441;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=24.89;ReadPosRankSum=0.834;SOR=1.502	GT:AD:DP:GQ:PL	0/1:9,11:20:99:435,0,323	19	0	2	0
chr18	8406158	8406158	G	A	exonic	PTPRM	.	nonsynonymous SNV	PTPRM:NM_001378142:exon27:c.G3716A:p.G1239D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.029	N	1.000	D	0.345	N	1.03	T	-0.702	T	0.199	T	0.954	4.421	23.5	6.17	2.941	7.978	20.879	0.363	0.0178691031955	.	0.000199681	5.782e-05	0	0	0	0	0	0	0.0004	5.17e-05	8	154602	rs549858445	2.668e-05	2.668e-05	1.225e-05	4.126e-05	0.0004	1.998e-05	1.754e-05	0.0003	0.0003	0	0	0	0	0	0	8.994e-07	3.312e-05	0.0004	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0004	2.18e-06	8.2e-07	7.299e-05	3.032e-05	0	0	0	0	0	0	0	0	0	0.0004	0.005	0.63226	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.029480	0.25449	N	0.406838	0.999999	0.81001	D	0	0.06538	N	1.1	0.47130	T	-0.34	0.14978	N	0.615	0.67822	-0.7018	0.60352	T	0.199	0.55485	T	10	0.26986283	0.44514	T	0.017869	0.39735	T	0.363	0.68319	0.486	0.56939	0.596260150111	0.59305	0.518378492089904	0.51760	1.55775025529	0.88002	0.799728572369	0.81921	T	0.107307	0.41940	T	0.0219697	0.54647	T	0.104	0.77194	D	0.500490427017212	0.32647	D	0.963004	0.86214	D	0.15261263	0.34635	0.23596421	0.48855	0.10961718	0.25914	0.21200554	0.45651	-2.615	0.07724	T	.	.	0.261	0.49557	B	.;.;.;.	.;.;.;.	4.027578	0.59527	24.1	0.99806236062622022	0.89085	0.98521	0.83668	D	AEFDGBI	0.946232	0.95546	D	0.691448073148872	0.79072	7.001196	0.754082953912859	0.86462	8.896794	0.999999999852879	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.17	6.17	0.99707	8.093000	0.89361	11.837000	0.97708	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.856000	0.40543	0.0:0.0:1.0:0.0	20.879	0.99870	849	0.35778	.;.;.;.	.	.	.	.	.	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	0.02381	1238.98	33	chr18	8406158	.	G	A	1238.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.360e+00;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.32;ReadPosRankSum=1.59;SOR=0.674	GT:AD:DP:GQ:PL	0/1:64,56:120:99:1253,0,1658	20	0	1	0
chr18	8786033	8786033	G	A	exonic	MTCL1	.	nonsynonymous SNV	MTCL1:NM_001378205:exon6:c.G2909A:p.R970H	.	.	420	1031	66	5	0	76	0.0355472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.05	B	0.015	B	0.326	N	1.000	D	1.445	L	0.71	T	-1.074	T	0.060	T	0.258	1.642	11.45	2.74	0.277	4.366	11.209	0.055	.	0.0049	0.00738818	0.0128	0.0016	0.0385	0.0150	0	0.0098	0.0254	0.0148	0.0082987	1283	154602	rs202096044	0.0076	0.0076	0.0073	0.0079	0.0433	0.0075	0.0075	0.0385	0.0367	0.0028	0.0227	0.0129	0.0136	0.0003	0.0433	0.0067	0.0096	0.0103	0.0068	0.0069	0.0067	0.0070	0.0128	0.0065	0.0063	0.0114	0.0108	0.0021	0.0462	0.0128	0.0130	0.0118	9.482e-05	0.0514	0.0073	0.0157	0.0123	0.18	0.30943	T	0.188	0.37730	T	0.048	0.22112	B	0.015	0.17295	B	0.325834	0.14195	N	0.591474	0.596131	0.81001	D	1.355	0.33814	L	0.71	0.51228	T	-1.8	0.45042	N	0.39	0.43126	-1.0737	0.08619	T	0.060	0.25163	T	10	0.0044347644	0.00091	T	.	.	.	0.055	0.15663	.	.	0.40417439687	0.40030	0.12613992147701064	0.12539	0.128050012963	0.14436	0.463122904301	0.33739	T	0.066765	0.33029	T	-0.46786	0.00877	T	-0.426572	0.30325	T	0.0151532797344599	0.00330	T	0.836316	0.50742	T	0.06137621	0.12703	0.08209207	0.18710	0.06137621	0.12703	0.08209207	0.18709	-3.825	0.25980	T	.	.	0.095	0.20741	B	.;.;.;.	.;.;.;.	3.117161	0.42069	21.5	0.99017006908003979	0.50484	0.93051	0.57203	D	AEFDBCI	0.467063	0.51445	N	-0.413658461604611	0.24990	1.353313	-0.372666341141941	0.25815	1.422005	0.999997622467162	0.74766	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.54	2.74	0.31352	4.533000	0.60328	0.857000	0.22192	0.672000	0.70159	1.000000	0.71638	0.000000	0.08366	0.360000	0.25886	0.2033:0.0:0.7967:0.0	11.209	0.48015	900	0.24599	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	997.11	34	chr18	8786033	.	G	A	997.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.638;DP=747;ExcessHet=0.1072;FS=3.468;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.29;ReadPosRankSum=1.03;SOR=1.203	GT:AD:DP:GQ:PL	0/1:17,13:30:99:361,0,451	19	0	2	0
chr18	9887397	9887397	C	0	exonic	TXNDC2	.	.	.	.	.	477	317	422	139	167	867	0.524738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	89848.01	520	chr18	9887397	.	C	T,*	89848.01	.	AC=14,15;AF=0.333,0.357;AN=42;BaseQRankSum=1.52;DP=12043;ExcessHet=0.2231;FS=0.000;InbreedingCoeff=0.2202;MLEAC=14,15;MLEAF=0.333,0.357;MQ=59.66;MQRankSum=-1.550e-01;QD=11.05;ReadPosRankSum=-6.600e-02;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:2,330,196:528:99:.:.:16602,7937,9779,9137,0,11954	3	2	4	0
chr18	9887405	9887414	CCAAGGAGGG	0	exonic	TXNDC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3667	1542.09	520	chr18	9887405	.	CCAAGGAGGG	*,C	1542.09	.	AC=10,1;AF=0.333,0.033;AN=30;BaseQRankSum=2.72;DP=11648;ExcessHet=0.0338;FS=0.521;InbreedingCoeff=0.1429;MLEAC=12,1;MLEAF=0.400,0.033;MQ=59.72;MQRankSum=0.286;QD=0.42;ReadPosRankSum=0.423;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:374,196,0:570:99:0|1:9887396_CCA_*:6827,0,13331,8403,14395,25491:9887396	7	3	4	6
chr18	9887406	9887414	CAAGGAGGG	-	exonic	TXNDC2	.	nonframeshift deletion	TXNDC2:NM_001098529:exon2:c.927_935del:p.K310_G312del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.676e-05	1.869e-05	1.541e-05	1.814e-05	5.184e-05	1.006e-05	7.98e-06	7.41e-06	5.4e-06	5.184e-05	0	0	3.629e-05	7.729e-05	0	1.466e-05	0	1.809e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3667	1542.09	520	chr18	9887405	.	CCAAGGAGGG	*,C	1542.09	.	AC=10,1;AF=0.333,0.033;AN=30;BaseQRankSum=2.72;DP=11648;ExcessHet=0.0338;FS=0.521;InbreedingCoeff=0.1429;MLEAC=12,1;MLEAF=0.400,0.033;MQ=59.72;MQRankSum=0.286;QD=0.42;ReadPosRankSum=0.423;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:374,196,0:570:99:0|1:9887396_CCA_*:6827,0,13331,8403,14395,25491:9887396	7	3	4	6
chr18	9887415	9887434	TGACATCCCCAAGTCCCCAG	0	exonic	TXNDC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	1383.0	520	chr18	9887415	.	TGACATCCCCAAGTCCCCAG	*,T	1383.0	.	AC=14,1;AF=0.368,0.026;AN=38;BaseQRankSum=4.88;DP=13456;ExcessHet=0.8717;FS=0.518;InbreedingCoeff=-0.0096;MLEAC=15,1;MLEAF=0.395,0.026;MQ=59.70;MQRankSum=0.190;QD=0.26;ReadPosRankSum=0.247;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:374,196,0:570:99:0|1:9887396_CCA_*:6827,0,13331,8403,14395,25491:9887396	7	3	8	2
chr18	9887416	9887434	GACATCCCCAAGTCCCCAG	-	exonic	TXNDC2	.	frameshift deletion	TXNDC2:NM_001098529:exon2:c.937_955del:p.D313Kfs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.788e-06	8.288e-06	8.77e-06	6.777e-06	5.157e-05	3.24e-06	2.08e-06	2.14e-06	1.55e-06	5.157e-05	0	0	3.633e-05	0	0	7.303e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	1383.0	520	chr18	9887415	.	TGACATCCCCAAGTCCCCAG	*,T	1383.0	.	AC=14,1;AF=0.368,0.026;AN=38;BaseQRankSum=4.88;DP=13456;ExcessHet=0.8717;FS=0.518;InbreedingCoeff=-0.0096;MLEAC=15,1;MLEAF=0.395,0.026;MQ=59.70;MQRankSum=0.190;QD=0.26;ReadPosRankSum=0.247;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:374,196,0:570:99:0|1:9887396_CCA_*:6827,0,13331,8403,14395,25491:9887396	7	3	8	2
chr18	11893566	11893566	T	C	exonic	MPPE1	.	nonsynonymous SNV	MPPE1:NM_001242904:exon3:c.A292G:p.M98V	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.998	D	0.987	D	0.000	D	1.000	D	2.35	M	2.4	T	-0.731	T	0.209	T	0.916	3.641	18.52	5.97	2.281	7.413	16.447	0.422	0.0248774837199	.	.	8.26e-06	0	0	0	0	0	0	6.064e-05	6.5e-06	1	154602	rs761324576	1.095e-05	1.094e-05	5.445e-06	1.65e-05	0.0002	6.48e-06	5.24e-06	9.791e-05	7.838e-05	0	0	0	0	0	0	8.993e-07	1.656e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.329	0.73220	B	0.536	0.77487	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.935	0.84639	M	2.4	0.25678	T	-3.99	0.73893	D	0.951	0.95956	-0.7312	0.58903	T	0.209	0.56852	T	10	0.7970841	0.80806	D	0.024877	0.47865	T	0.422	0.73078	0.722	0.85673	0.715137123678	0.71263	0.962609851197638	0.96246	0.439089253012	0.43930	0.516804695129	0.41177	T	0.55326	0.87368	D	0.261058	0.79627	D	0.137215	0.79364	D	0.861333668231964	0.51173	D	0.808919	0.45897	T	0.8734444	0.89136	0.8373023	0.90661	0.8734444	0.89138	0.8373023	0.90661	-10.626	0.77568	D	.	.	0.692	0.73351	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.549159	0.71574	25.7	0.99095880286101123	0.52346	0.97958	0.78429	D	AEFBI	0.951409	0.96595	D	0.522005784235539	0.68392	5.210993	0.593535838882689	0.74475	6.143329	0.999999999996467	0.74766	0.559995	0.30671	0	0.546412	0.12157	0	0.547309	0.15389	0	0.550183	0.17644	0	.	.	5.97	5.97	0.96935	7.392000	0.79116	7.763000	0.68332	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.923000	0.45890	0.0:0.0:0.0:1.0	16.447	0.83783	917	0.20147	Calcineurin-like phosphoesterase domain, ApaH type|Metallophosphoesterase 1, metallophosphatase domain;.;.;Calcineurin-like phosphoesterase domain, ApaH type|Metallophosphoesterase 1, metallophosphatase domain;Calcineurin-like phosphoesterase domain, ApaH type|Metallophosphoesterase 1, metallophosphatase domain;.;Calcineurin-like phosphoesterase domain, ApaH type|Metallophosphoesterase 1, metallophosphatase domain;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	0	0	0	0	0	0	0	0	0	0	0	0.025	1287.33	41	chr18	11893566	.	T	C	1287.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.889;DP=884;ExcessHet=0.0000;FS=1.766;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=13.70;ReadPosRankSum=-4.950e-01;SOR=0.996	GT:AD:DP:GQ:PL	0/1:47,47:94:99:1301,0,1186	19	0	1	1
chr18	12814235	12814235	C	T	exonic	PTPN2	.	nonsynonymous SNV	PTPN2:NM_001308287:exon6:c.G739A:p.A247T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.794	P	0.216	B	0.002	N	1.000	D	2.125	M	3.61	T	-1.134	T	0.021	T	0.559	3.885	19.75	5.86	2.771	3.660	14.969	0.102	0.00876789102268	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1207461588	6.903e-07	3.421e-06	0	1.387e-06	1.18e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.18e-05	1.314e-05	1.314e-05	0	2.691e-05	4.828e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.828e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.039	0.54934	D	0.535	0.43786	P	0.192	0.37572	B	0.001669	0.38326	N	0.115428	0.999173	0.51042	D	3.2	0.89116	M	3.59	0.08547	T	-3.58	0.69477	D	0.344	0.41261	-1.1337	0.01613	T	0.021	0.08917	T	10	0.35547003	0.52307	T	0.008768	0.23147	T	0.102	0.29158	0.427	0.47350	0.372852800391	0.36900	0.6334288060791295	0.63276	0.105728612331	0.11951	0.501613557339	0.39053	T	0.381024	0.74343	T	-0.0684986	0.41567	T	-0.33617	0.40778	T	0.963272750377655	0.66611	D	0.937806	0.76632	D	0.35962412	0.57807	0.25244695	0.50874	0.35962412	0.57808	0.25244695	0.50873	-9.242	0.69757	D	.	.	0.158	0.47524	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.106374	0.61274	24.3	0.99791293313253737	0.87661	0.97939	0.78280	D	AEFDGBI	0.505265	0.53649	D	0.395752582900315	0.61191	4.316961	0.491495573655148	0.67425	5.082329	0.999999940755575	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.86	5.86	0.93936	3.760000	0.54947	4.855000	0.45413	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1426:0.8574:0.0:0.0	14.969	0.70864	746	0.52331	.;.;.;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.225	1024.34	23	chr18	12814235	.	C	T	1024.34	.	AC=9;AF=0.225;AN=40;BaseQRankSum=-1.786e+00;DP=832;ExcessHet=4.7172;FS=190.289;InbreedingCoeff=-0.2940;MLEAC=9;MLEAF=0.225;MQ=59.98;MQRankSum=0.00;QD=2.05;ReadPosRankSum=0.165;SOR=10.577	GT:AD:DP:GQ:PL	0/1:27,19:46:98:98,0,391	11	0	9	1
chr18	14513679	14513679	T	G	exonic	POTEC	.	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.A1516C:p.K506Q,	.	.	1001	337	183	1	0	185	0.215367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.455	P	0.137	B	.	.	1.000	N	1.495	L	1.38	T	-1.046	T	0.060	T	0.15	-1.338	0.030	-0.976	-0.290	0.960	4.177	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2857	6662.91	35	chr18	14513679	.	T	G	6662.91	.	AC=12;AF=0.286;AN=42;BaseQRankSum=4.54;DP=3722;ExcessHet=9.6308;FS=15.336;InbreedingCoeff=-0.4158;MLEAC=12;MLEAF=0.286;MQ=50.97;MQRankSum=-9.346e+00;QD=2.29;ReadPosRankSum=-3.404e+00;SOR=2.155	GT:AD:DP:GQ:PL	0/1:210,55:265:99:958,0,5289	9	0	12	0
chr18	21704577	21704577	G	A	exonic	ABHD3	.	nonsynonymous SNV	ABHD3:NM_001308256:exon1:c.C89T:p.S30L	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.989	D	0.638	P	0.000	D	1.000	D	1.61	L	2.89	T	-1.108	T	0.043	T	0.691	3.035	16.13	5.12	2.386	8.587	17.122	0.189	0.0867795416898	.	.	2.203e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs778304671	5.739e-06	8.209e-06	4.268e-06	7.233e-06	3.853e-05	2.47e-06	1.78e-06	1.023e-05	4.84e-06	0	0	0	0	0	0	4.624e-06	0	3.853e-05	6.574e-06	6.567e-06	0	1.346e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.081	0.33418	T	0.222	0.65728	T	0.913	0.50474	P	0.089	0.29769	B	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.24	0.63355	M	2.89	0.10196	T	-1.34	0.33401	N	0.732	0.76019	-1.1078	0.03265	T	0.043	0.18410	T	10	0.5163352	0.62387	D	0.08678	0.74805	D	0.189	0.46613	0.407	0.44066	0.286848849266	0.28300	0.7695187819420866	0.76900	0.194962813316	0.21832	0.810510933399	0.83571	D	0.060166	0.31314	T	0.019665	0.54337	T	-0.209529	0.53740	T	0.895688593387604	0.54728	D	0.945205	0.79148	D	0.45696315	0.64482	0.49537507	0.70816	0.45696315	0.64483	0.49537507	0.70817	-2.987	0.10042	T	.	.	0.251	0.49950	B	.;.	.;.	4.547702	0.71547	25.7	0.96983417693526064	0.31871	0.96896	0.71531	D	ALL	0.877254	0.80177	D	0.293297466231783	0.55808	3.744928	0.301169830107229	0.55609	3.723751	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.372554	0.06265	0	.	.	5.12	5.12	0.69459	8.817000	0.91609	11.252000	0.90779	0.502000	0.22824	1.000000	0.71638	1.000000	0.68203	0.949000	0.49496	0.0:0.0:1.0:0.0	17.122	0.86580	690	0.58899	.;.	.	.	.	.	.	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	0.02381	671.98	33	chr18	21704577	.	G	A	671.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.01;DP=756;ExcessHet=0.0000;FS=0.927;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.18;ReadPosRankSum=-7.070e-01;SOR=0.836	GT:AD:DP:GQ:PL	0/1:38,28:66:99:686,0,863	20	0	1	0
chr18	26917075	26917075	C	A	exonic	CHST9	.	nonsynonymous SNV	CHST9:NM_031422:exon6:c.G516T:p.E172D,	.	.	438	1068	15	1	0	17	0.00789596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.89	T	0.0	B	0.0	B	0.007	N	1.000	N	-1.04	N	-0.1	T	-1.025	T	0.035	T	0.033	-1.575	0.014	-0.787	-0.656	0.878	3.259	0.043	.	0.0019	0.00299521	0.0028	0.0001	0.0009	0.0001	0.0057	0.0026	0.0067	0.0066	0.0026843	415	154602	rs149359030	0.0022	0.0022	0.0021	0.0024	0.0063	0.0022	0.0022	0.0058	0.0057	0.0003	0.0010	0.0077	2.52e-05	0.0084	0.0050	0.0017	0.0021	0.0063	0.0026	0.0026	0.0023	0.0028	0.0070	0.0023	0.0023	0.0052	0.0045	0.0002	0	0.0008	0.0092	0.0002	0.0093	0.0034	0.0029	0.0043	0.0070	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.006679	0.31877	N	0.310484	1	0.08975	N	-1.75	0.00322	N	-0.1	0.64264	T	.	.	.	0.022	0.00571	-1.0246	0.22214	T	0.035	0.15030	T	10	0.0025432706	0.00038	T	.	.	.	.	.	0.414	0.45216	0.314417295294	0.31040	0.28074191338002796	0.27987	.	.	0.318222284317	0.13151	T	0.060103	0.31295	T	-0.60998	0.00127	T	-0.646081	0.09231	T	0.000571501802799079	0.00005	T	0.059594	0.00430	T	0.045573115	0.07481	0.038288143	0.03666	0.045573115	0.07481	0.038288143	0.03665	-5.204	0.38982	T	.	.	0.070	0.03736	B	.;.	.;.	0.330550	0.07045	3.610	0.7634190321159201	0.11429	0.01120	0.04086	N	AEFBHCI	0.032658	0.03729	N	-1.3980929535488	0.02656	0.1176084	-1.27057911160516	0.04833	0.2289488	0.963894131438598	0.28722	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	6.16	-0.787	0.10391	0.252000	0.18046	0.066000	0.14196	-0.043000	0.17390	0.000000	0.06391	0.000000	0.08366	0.992000	0.67800	0.4943:0.2759:0.1388:0.0911	3.259	0.06438	931	0.16308	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2964.98	39	chr18	26917075	.	C	A	2964.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.940e-01;DP=923;ExcessHet=0.0000;FS=4.513;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=0.177;SOR=0.800	GT:AD:DP:GQ:PL	0/1:114,114:228:99:2979,0,2948	20	0	1	0
chr18	31541297	31541297	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon13:c.G1984A:p.A662T,	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.85	M	-0.92	T	0.372	D	0.658	D	0.592	5.198	33	5.86	2.937	6.565	20.563	0.426	0.0891150511824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186896680	1.368e-06	1.368e-06	2.723e-06	0	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.995e-07	0	0	6.575e-06	6.568e-06	1.285e-05	0	6.549e-05	0	0	.	.	0	0	6.549e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000006	0.62929	D	0.000000	0.999817	0.49394	D	3.05	0.86762	M	-0.92	0.75108	T	-3.52	0.68412	D	0.56	0.58458	0.372	0.88677	D	0.658	0.88122	D	10	0.69900656	0.72324	D	0.089115	0.75265	D	0.426	0.73372	0.21	0.12781	0.956247277456	0.95578	0.9288824395156199	0.92866	0.414509619234	0.42131	0.434575915337	0.29834	T	0.621993	0.88164	D	0.0720377	0.61095	D	-0.051434	0.66924	D	0.993339002132416	0.84094	D	0.858914	0.54988	D	0.6406292	0.74865	0.679	0.81137	0.6406292	0.74866	0.679	0.81138	-8.715	0.65844	D	0.8609242873125713	0.92441	0.562	0.67302	A	.	.	4.707566	0.75589	26.4	0.99913393119932348	0.98238	0.99258	0.93561	D	AEFBI	0.734853	0.68086	D	0.925276561188041	0.92941	11.723	0.887186071652214	0.94988	13.21417	0.999999990424555	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	6.638000	0.74166	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	20.563	0.99337	702	0.57624	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.4762	4225.93	56	chr18	31541297	.	G	A	4225.93	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-4.940e-01;DP=1248;ExcessHet=43.6797;FS=377.368;InbreedingCoeff=-0.9302;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=3.76;ReadPosRankSum=0.537;SOR=12.605	GT:AD:DP:GQ:PL	0/1:34,27:61:99:225,0,545	1	0	20	0
chr18	37067196	37067196	T	C	exonic	KIAA1328	.	nonsynonymous SNV	KIAA1328:NM_001322327:exon6:c.T559C:p.C187R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.958	D	0.563	P	0.066	N	1.000	N	1.525	L	0.96	T	-1.043	T	0.086	T	0.141	-0.215	2.958	0.957	-0.051	1.229	2.399	0.028	0.0248307524252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.317	0.70582	T	0.002	0.54977	B	0.003	0.49647	B	0.066107	0.21833	N	0.492799	0.999991	0.18198	N	1.895	0.50365	L	0.96	0.42888	T	-2.89	0.60665	D	0.217	0.34228	-1.0429	0.16443	T	0.086	0.33550	T	10	0.095427215	0.17043	T	0.024831	0.47815	T	0.028	0.06331	0.277	0.23004	0.151104730317	0.14643	0.12560051005708286	0.12486	0.260958981567	0.28653	0.343422293663	0.16949	T	0.074489	0.34951	T	-0.234135	0.16106	T	-0.574095	0.15076	T	0.15222541987896	0.17279	T	0.674733	0.29555	T	0.25123864	0.48131	0.18567732	0.41694	0.25123864	0.48131	0.18567732	0.41693	-2.248	0.04280	T	.	.	0.146	0.40392	B	.;.;.;.;.	.;.;.;.;.	1.448914	0.18694	13.88	0.56740053966158088	0.05617	0.66923	0.33248	D	AEFGI	0.168829	0.29561	N	-0.727595758614455	0.15249	0.7668366	-0.728904545204197	0.16243	0.8583232	4.57563750617174E-5	0.03989	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	6.17	0.957	0.18736	1.298000	0.33017	0.476000	0.18759	-0.169000	0.11342	0.930000	0.32276	0.856000	0.27440	0.032000	0.13371	0.1242:0.1328:0.13:0.613	2.399	0.04129	738	0.53389	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1905	2337.79	46	chr18	37067196	.	T	C	2337.79	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-6.944e+00;DP=2815;ExcessHet=3.5521;FS=193.128;InbreedingCoeff=-0.2495;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=1.16;ReadPosRankSum=1.87;SOR=12.484	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:215,57:272:99:.:.:249,0,5090	13	0	8	0
chr18	47098222	47098222	-	A	exonic	KATNAL2	.	frameshift insertion	KATNAL2:NM_001353908:exon12:c.829dupA:p.S281Kfs*11	.	.	734	696	20	0	72	92	0.0141643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1098.03	44	chr18	47098221	.	CA	C,CAA,CAAA	1098.03	.	AC=2,3,1;AF=0.048,0.071,0.024;AN=42;BaseQRankSum=0.200;DP=1001;ExcessHet=1.7912;FS=3.187;InbreedingCoeff=-0.1691;MLEAC=2,2,1;MLEAF=0.048,0.048,0.024;MQ=59.97;MQRankSum=0.00;QD=4.19;ReadPosRankSum=-1.150e-01;SOR=0.986	GT:AD:DP:GQ:PL	0/2:39,0,6,0:45:7:7,123,988,0,865,847,123,988,865,988	15	0	2	0
chr18	47098222	47098222	-	AA	exonic	KATNAL2	.	frameshift insertion	KATNAL2:NM_001353908:exon12:c.829_830insAA:p.S281Kfs*4	.	.	1	172	24	0	29	53	0.0652174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1098.03	44	chr18	47098221	.	CA	C,CAA,CAAA	1098.03	.	AC=2,3,1;AF=0.048,0.071,0.024;AN=42;BaseQRankSum=0.200;DP=1001;ExcessHet=1.7912;FS=3.187;InbreedingCoeff=-0.1691;MLEAC=2,2,1;MLEAF=0.048,0.048,0.024;MQ=59.97;MQRankSum=0.00;QD=4.19;ReadPosRankSum=-1.150e-01;SOR=0.986	GT:AD:DP:GQ:PL	0/2:39,0,6,0:45:7:7,123,988,0,865,847,123,988,865,988	15	0	2	0
chr18	48252446	48252446	C	G	exonic	C18orf12	.	nonsynonymous SNV	C18orf12:NM_001350280:exon1:c.C146G:p.T49S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00202876021771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07692	105.29	151	chr18	48252446	.	C	G	105.29	.	AC=2;AF=0.077;AN=26;BaseQRankSum=-5.767e+00;DP=3125;ExcessHet=0.1072;FS=202.408;InbreedingCoeff=-0.1780;MLEAC=3;MLEAF=0.115;MQ=60.00;MQRankSum=0.00;QD=0.30;ReadPosRankSum=1.62;SOR=11.226	GT:AD:DP:GQ:PL	0/1:133,44:188:99:105,0,2973	11	0	2	8
chr18	49097446	49097446	T	C	exonic	DYM	.	nonsynonymous SNV	DYM:NM_001374444:exon10:c.A1063G:p.I355V	Dyggve-Melchior-Clausen disease, Autosomal recessive;Smith-McCort dysplasia, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	1402459	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.001	B	0.008	B	0.000	D	1.000	D	-0.76	N	-1.22	T	-0.853	T	0.146	T	0.083	2.105	12.99	5.61	2.254	5.122	10.190	0.395	0.0163670609183	.	.	4.956e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs752865908	2.942e-05	2.941e-05	1.089e-05	4.813e-05	0.0003	2.217e-05	1.97e-05	0.0002	0.0001	0	0.0001	0	0	0	0.0003	9.893e-06	6.624e-05	0.0002	2.628e-05	2.626e-05	0	5.378e-05	0.0004	8.14e-06	5.14e-06	7.293e-05	3.03e-05	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.008	0.13708	B	0.000000	0.84330	D	0.054883	0.989332	0.40932	D	-0.46	0.02758	N	-1.22	0.78752	T	0.28	0.04233	N	0.339	0.38027	-0.8532	0.51746	T	0.146	0.47038	T	10	0.13897276	0.26426	T	0.016367	0.37594	T	0.395	0.71004	0.468	0.54052	0.417334834585	0.41349	0.18776342783962793	0.18694	0.0620959451448	0.06914	0.592374742031	0.51829	T	0.286922	0.65972	T	-0.315402	0.07280	T	-0.431151	0.29805	T	0.0752972858003471	0.09375	T	0.891311	0.62583	D	0.06600874	0.14162	0.10776128	0.25948	0.06600874	0.14161	0.10776128	0.25947	-2.183	0.03959	T	0.050691776063126685	0.00891	0.064	0.01762	B	.;.	.;.	2.060805	0.26204	17.03	0.94961563574336383	0.25880	0.83553	0.42662	D	AEFI	0.389199	0.46851	N	-0.392127339314797	0.25748	1.400077	-0.0968897337089395	0.35519	2.055869	0.999968003822973	0.48965	0.706298	0.61202	0	0.724815	0.89359	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.61	5.61	0.85347	4.838000	0.62495	5.104000	0.47459	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0749:0.0:0.9251	10.190	0.42195	933	0.16026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1770.98	36	chr18	49097446	.	T	C	1770.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.510e-01;DP=855;ExcessHet=0.0000;FS=2.822;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.43;ReadPosRankSum=0.690;SOR=0.502	GT:AD:DP:GQ:PL	0/1:81,74:155:99:1785,0,2027	20	0	1	0
chr18	49980469	49980469	C	T	exonic	MYO5B	.	nonsynonymous SNV	MYO5B:NM_001080467:exon9:c.G1031A:p.R344H,	Microvillus inclusion disease, Autosomal recessive	.	0	1485	36	0	1	37	0.011976	.	.	215558	MYO5B-related_disorder|not_specified|Congenital_microvillous_atrophy|not_provided	.|MedGen:CN169374|MONDO:MONDO:0009635,MedGen:C0341306,OMIM:251850,Orphanet:2290|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.964	D	0.941	D	0.000	D	1.000	D	2.415	M	-3.66	D	0.825	D	0.877	D	0.706	4.793	27.0	6.07	2.884	5.516	20.254	0.619	0.248873821169	0.0011	0.00239617	0.0017	0.0018	0.0006	0.0020	0	0.0012	0	0.0051	0.0016041	248	154602	rs189027956	0.0014	0.0014	0.0011	0.0016	0.0099	0.0013	0.0013	0.0078	0.0071	0.0029	0.0009	0.0008	0.0010	0.0001	0.0099	0.0011	0.0021	0.0047	0.0016	0.0016	0.0015	0.0018	0.0035	0.0015	0.0014	0.0022	0.0019	0.0024	0	0.0012	0	0.0035	0.0006	0.0034	0.0012	0.0033	0.0035	0.094	0.31383	T	0.109	0.37449	T	0.568	0.38507	P	0.102	0.30857	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.31	0.32734	L	-3.66	0.95212	D	-2.52	0.54702	D	0.41	0.45047	0.825	0.94719	D	0.877	0.95921	D	10	0.010490537	0.00233	T	0.248874	0.89028	D	0.619	0.85196	.	.	0.938179291171	0.93753	0.3564941155130345	0.35563	0.290282118503	0.31433	0.475598722696	0.35451	T	0.372919	0.73701	T	-0.0512728	0.44253	T	0.154252	0.80451	D	0.0240900993829012	0.01157	T	0.927907	0.73422	D	0.26700717	0.49772	0.23210035	0.48360	0.26700717	0.49771	0.23210035	0.48359	-9.716	0.72194	D	0.23106346885163945	0.31267	0.148	0.32589	B	.	.	3.982826	0.58557	24.0	0.99923973614868533	0.98917	0.99250	0.93443	D	AEFBI	0.714006	0.66662	D	0.574448466771434	0.71583	5.672969	0.596381750035958	0.74679	6.178384	0.999999999999895	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	6.07	6.07	0.98675	5.569000	0.67091	4.886000	0.45715	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.540000	0.29938	0.0:1.0:0.0:0.0	20.254	0.98416	849	0.35778	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class V myosin, motor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1534.98	34	chr18	49980469	.	C	T	1534.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.84;DP=839;ExcessHet=0.0000;FS=0.661;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=0.891;SOR=0.782	GT:AD:DP:GQ:PL	0/1:70,59:129:99:1549,0,1652	20	0	1	0
chr18	51177111	51177111	A	G	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.T1220C:p.F407S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.994	D	0.000	D	1.000	D	2.14	M	1.06	T	-0.561	T	0.260	T	0.979	4.060	20.9	5.97	2.288	9.339	15.443	0.693	0.102199489435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.001	0.83351	D	0.999	0.77913	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.82	0.82106	M	1.06	0.39781	T	-7.43	0.94843	D	0.915	0.91736	-0.5608	0.66373	T	0.260	0.63055	T	10	0.8575133	0.84955	D	0.102199	0.77552	D	0.693	0.88867	0.523	0.62668	0.871121440729	0.86986	.	.	2.08113370078	0.94615	0.84824347496	0.89348	D	0.486903	0.81319	T	0.283754	0.81634	D	0.169817	0.81398	D	0.993432641029358	0.84232	D	0.955504	0.83071	D	0.7668921	0.81862	0.8345447	0.90481	0.7668921	0.81863	0.8345447	0.90482	-10.837	0.78756	D	.	.	0.997	0.96466	P	.;.	.;.	5.541891	0.91973	32	0.99862355508127409	0.94093	0.99359	0.94992	D	AEFBI	0.905263	0.85658	D	0.874282393817284	0.90444	10.40677	0.871452856671372	0.94204	12.58209	0.999999999990326	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	9.325000	0.96006	9.407000	0.80679	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.443	0.74935	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	80.98	35	chr18	51177111	.	A	G	80.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.770e+00;DP=900;ExcessHet=0.0000;FS=58.493;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.41;ReadPosRankSum=1.53;SOR=6.091	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,20:197:95:0|1:51177111_A_G:95,0,7138:51177111	20	0	1	0
chr18	51177112	51177112	A	G	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.T1219C:p.F407L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.997	D	0.97	D	0.000	D	1.000	D	2.14	M	1.12	T	-0.636	T	0.251	T	0.859	4.345	22.9	5.97	2.288	9.339	15.443	0.487	0.0253137631567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.113e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.075	0.47097	T	0.997	0.70673	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.82	0.82106	M	1.12	0.38718	T	-5.52	0.85994	D	0.706	0.72477	-0.6365	0.63295	T	0.251	0.62073	T	10	0.7858712	0.78241	D	0.025314	0.48293	D	0.487	0.77528	0.449	0.50957	0.730059074749	0.72765	.	.	1.28565786633	0.82653	0.864578425884	0.91784	D	0.402891	0.75979	T	0.233233	0.77025	D	0.0972472	0.76725	D	0.982453107833862	0.74501	D	0.911209	0.68535	D	0.6268725	0.74131	0.5983521	0.76673	0.6268725	0.74132	0.5983521	0.76674	-9.398	0.70223	D	.	.	0.999	0.98504	P	.;.	.;.	5.110104	0.85422	28.6	0.99866937388056276	0.94457	0.99359	0.94992	D	AEFBI	0.900400	0.84589	D	0.849071139545032	0.89055	9.816957	0.851133728241547	0.93083	11.813	0.999999999990326	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	9.325000	0.96006	11.284000	0.91844	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.443	0.74935	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.15	998.11	35	chr18	51177112	.	A	G	998.11	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-2.966e+00;DP=1568;ExcessHet=1.7912;FS=106.025;InbreedingCoeff=-0.1831;MLEAC=6;MLEAF=0.150;MQ=60.00;MQRankSum=0.00;QD=1.17;ReadPosRankSum=0.704;SOR=9.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:178,20:198:92:0|1:51177111_A_G:92,0,7180:51177111	14	0	6	1
chr18	51177115	51177115	C	T	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.G1216A:p.D406N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	2.14	M	0.8	T	-0.471	T	0.319	T	0.142	4.835	27.5	5.97	2.836	7.818	19.210	0.315	0.0371233782211	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1170539047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.79402	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.81	0.81869	M	0.8	0.48769	T	-4.82	0.80851	D	0.665	0.72299	-0.4713	0.69679	T	0.319	0.68874	T	10	0.70792806	0.72858	D	0.037123	0.57424	D	0.315	0.63694	0.411	0.44723	0.803544974683	0.80170	.	.	1.72979365526	0.90724	0.81810438633	0.84738	D	0.45612	0.79501	T	-0.0908589	0.37934	T	-0.368289	0.37088	T	0.994576918359117	0.85946	D	0.979702	0.93682	D	0.72907937	0.79671	0.6503769	0.79545	0.72907937	0.79673	0.6503769	0.79545	-7.331	0.56415	T	.	.	0.945	0.86363	P	.;.	.;.	5.416801	0.90641	31	0.99916025942671016	0.98379	0.99021	0.90073	D	AEFBI	0.899214	0.84335	D	0.898058628751112	0.91662	10.99954	0.896553768688559	0.95422	13.60534	0.999999999999997	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	7.905000	0.86479	7.718000	0.67175	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.210	0.93737	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	1330.19	111	chr18	51177115	.	C	T,G	1330.19	.	AC=3,1;AF=0.075,0.025;AN=40;BaseQRankSum=-4.762e+00;DP=2221;ExcessHet=0.6776;FS=112.002;InbreedingCoeff=-0.1305;MLEAC=3,1;MLEAF=0.075,0.025;MQ=60.00;MQRankSum=0.00;QD=2.08;ReadPosRankSum=0.366;SOR=8.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:174,0,19:193:81:0|1:51177111_A_G:81,603,7709,0,7106,7051:51177111	16	0	3	1
chr18	51177115	51177115	C	G	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.G1216C:p.D406H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.000	D	1.000	D	2.14	M	0.75	T	-0.482	T	0.319	T	0.948	4.171	21.6	5.97	2.836	7.818	19.210	0.484	0.0331809939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.81	0.81869	M	0.75	0.50192	T	-6.75	0.92692	D	0.812	0.80767	-0.4817	0.69305	T	0.319	0.68822	T	10	0.7835201	0.78052	D	0.033181	0.54798	D	0.484	0.77335	0.424	0.46857	0.840214349164	0.83868	.	.	1.91785441749	0.92971	0.830285191536	0.86606	D	0.50707	0.82498	D	0.312169	0.83907	D	0.210633	0.83698	D	0.990333229866762	0.80552	D	0.973803	0.91457	D	0.8829649	0.89912	0.8398288	0.90827	0.8829649	0.89914	0.8398288	0.90828	-12.355	0.86537	D	.	.	0.996	0.96051	P	.;.	.;.	5.487575	0.91449	32	0.99644427409600334	0.76881	0.99289	0.94010	D	AEFBI	0.907600	0.86183	D	0.896449868337804	0.91583	10.95824	0.895090889778716	0.95356	13.54367	0.999999999999997	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	7.905000	0.86479	7.718000	0.67175	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.210	0.93737	881	0.29269	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1330.19	111	chr18	51177115	.	C	T,G	1330.19	.	AC=3,1;AF=0.075,0.025;AN=40;BaseQRankSum=-4.762e+00;DP=2221;ExcessHet=0.6776;FS=112.002;InbreedingCoeff=-0.1305;MLEAC=3,1;MLEAF=0.075,0.025;MQ=60.00;MQRankSum=0.00;QD=2.08;ReadPosRankSum=0.366;SOR=8.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:174,0,19:193:81:0|1:51177111_A_G:81,603,7709,0,7106,7051:51177111	16	0	3	1
chr18	51177121	51177121	C	G	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.G1210C:p.E404Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.993	D	0.813	P	0.000	D	1.000	D	1.195	L	0.98	T	-0.905	T	0.177	T	0.378	2.941	15.80	5.97	2.836	4.893	19.210	0.169	0.0103414181764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.048	0.48594	D	0.993	0.65571	D	0.813	0.58748	P	0.000001	0.62929	D	0.098325	0.999571	0.47641	D	1.975	0.53506	M	0.98	0.42122	T	-2.3	0.51157	N	0.291	0.32921	-0.9046	0.47493	T	0.177	0.52225	T	10	0.27463642	0.45018	T	0.010341	0.26763	T	0.169	0.43123	0.401	0.43081	0.529347144327	0.52582	.	.	1.3103030877	0.83193	0.667679488659	0.62507	T	0.13375	0.46460	T	-0.0795134	0.39793	T	-0.351992	0.38975	T	0.85820886835662	0.50888	D	0.961904	0.85651	D	0.2823534	0.51273	0.23955542	0.49307	0.2823534	0.51273	0.23955542	0.49306	-12.645	0.87848	D	.	.	0.460	0.62767	A	.;.	.;.	5.061369	0.84364	28.3	0.99623389986515531	0.75594	0.97755	0.76898	D	AEFBI	0.698287	0.65601	D	0.643224233656525	0.75929	6.394	0.693241619276502	0.81863	7.62779	0.999999997071113	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	4.960000	0.63380	7.718000	0.67175	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.210	0.93737	881	0.29269	.;.	.	.	.	.	.	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	0.02381	40.98	34	chr18	51177121	.	C	G	40.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.954e+00;DP=980;ExcessHet=0.0000;FS=53.732;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.21;ReadPosRankSum=2.90;SOR=5.891	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:174,18:192:55:0|1:51177111_A_G:55,0,7043:51177111	20	0	1	0
chr18	59466793	59466793	G	A	exonic	CCBE1	.	nonsynonymous SNV	CCBE1:NM_133459:exon5:c.C499T:p.R167W,	Hennekam lymphangiectasia-lymphedema syndrome 1, Autosomal recessive	.	0	1482	35	5	0	45	0.0149551	.	.	256713	not_specified|not_provided|Hennekam_lymphangiectasia-lymphedema_syndrome_1	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510,Orphanet:2136	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0	D	0.99	D	0.659	P	0.125	N	1.000	D	1.5	L	-2.99	D	0.667	D	0.760	D	0.224	3.494	17.87	5.23	2.444	7.151	17.568	0.491	.	0.0011	0.00339457	0.0028	0.0012	0.0005	0.0002	0	0.0005	0.0055	0.0170	0.0024385	377	154602	rs116675104	0.0013	0.0013	0.0008	0.0018	0.0162	0.0013	0.0012	0.0155	0.0152	0.0008	0.0007	7.653e-05	0.0001	1.873e-05	0.0104	0.0003	0.0018	0.0162	0.0011	0.0011	0.0010	0.0012	0.0149	0.0010	0.0009	0.0121	0.0111	0.0011	0	0.0003	0.0003	0.0004	9.464e-05	0.0034	0.0006	0.0009	0.0149	0.004	0.65419	D	0.017	0.69154	D	0.99	0.63424	D	0.659	0.52771	P	0.124953	0.18861	N	0.555420	1	0.81001	D	1.275	0.32135	L	-2.99	0.92108	D	-0.2	0.10136	N	0.379	0.42050	0.667	0.92753	D	0.760	0.91837	D	10	0.0058504045	0.00131	T	.	.	.	0.491	0.77783	.	.	0.974974424672	0.97470	0.6092467593932845	0.60856	0.280682384757	0.30544	0.206684857607	0.00678	T	0.364484	0.73007	T	-0.271512	0.11589	T	-0.149159	0.59319	T	0.0430179458999892	0.04242	T	0.920308	0.71398	D	0.14177458	0.32655	0.122777	0.29613	0.16005932	0.35921	0.10345569	0.24822	-7.477	0.57448	T	0.10868127610451947	0.08988	0.101	0.17700	B	.;.;.	.;.;.	4.615415	0.73231	26.0	0.99909106585150176	0.97875	0.97824	0.77403	D	AEFBI	0.876312	0.80025	D	0.445103202299717	0.63926	4.636052	0.414226687897752	0.62450	4.460618	0.999999999999803	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.23	5.23	0.72570	7.305000	0.78209	11.719000	0.94784	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.071000	0.16709	0.0:0.0:1.0:0.0	17.568	0.87825	821	0.40814	EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1005.98	34	chr18	59466793	.	G	A	1005.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.91;DP=788;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.40;ReadPosRankSum=1.49;SOR=0.764	GT:AD:DP:GQ:PL	0/1:64,43:107:99:1020,0,1409	20	0	1	0
chr18	63351009	63351009	C	T	exonic	KDSR	.	nonsynonymous SNV	KDSR:NM_002035:exon6:c.G488A:p.R163H,	Lymphoma/leukemia, B-cell, variant (1)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.992	D	0.000	D	1.000	D	2.075	M	-2.67	D	0.790	D	0.841	D	0.731	5.679	36	5.95	2.824	7.818	20.393	0.684	0.139069495198	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1374415594	9.585e-06	9.578e-06	6.813e-06	1.238e-05	1.08e-05	5.56e-06	4.35e-06	5.76e-06	4.55e-06	0	0	0	0	1.872e-05	0	1.08e-05	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.029	0.54541	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.046294	1	0.81001	D	2.2	0.62015	M	-2.67	0.90332	D	-3.43	0.67359	D	0.81	0.80572	0.790	0.94283	D	0.841	0.94677	D	10	0.7782662	0.77638	D	0.139069	0.82155	D	0.684	0.88443	0.51	0.60693	0.871323320213	0.87007	0.8418157764441112	0.84141	1.10155356664	0.77751	0.823471665382	0.85561	D	0.797789	0.94811	D	0.264549	0.79947	D	0.14223	0.79689	D	0.976192653179169	0.71270	D	0.960404	0.86020	D	0.29960656	0.52870	0.23007621	0.48099	0.29960656	0.52869	0.23007621	0.48098	-11.488	0.82267	D	.	.	0.500	0.64577	A	.;.;.	.;.;.	5.526542	0.91831	32	0.999543220592641	0.99963	0.98996	0.89714	D	AEFBI	0.942472	0.94711	D	0.8860537270378	0.91059	10.69594	0.887143920921449	0.94988	13.21234	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.95	5.95	0.96415	7.905000	0.86479	7.605000	0.61698	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.393	0.98966	855	0.34697	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	149.98	63	chr18	63351009	.	C	T	149.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.457e+00;DP=937;ExcessHet=0.0000;FS=132.020;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.39;ReadPosRankSum=2.32;SOR=6.089	GT:AD:DP:GQ:PL	0/1:89,19:109:99:164,0,2957	20	0	1	0
chr18	65824683	65824683	C	G	exonic	CDH7	.	nonsynonymous SNV	CDH7:NM_001317214:exon6:c.C833G:p.A278G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.073	N	0.983	D	-3.46	N	1.84	T	-0.904	T	0.008	T	0.124	-0.621	1.242	3.76	1.045	2.422	13.494	0.155	0.00490096248541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.072800	0.21387	N	0.451193	0.982979	0.39957	D	-3.075	0.00011	N	1.84	0.24656	T	3.87	0.00076	N	0.227	0.25499	-0.9038	0.47583	T	0.008	0.02884	T	10	0.04493016	0.03505	T	0.004901	0.12318	T	0.155	0.40530	0.546	0.66015	0.15499578495	0.15088	0.21276109158363124	0.21192	0.352591177131	0.37089	0.615600824356	0.55106	T	0.044351	0.26789	T	-0.291422	0.09494	T	-0.656384	0.08512	T	0.0723997502850542	0.08984	T	0.824517	0.48627	T	0.09681208	0.22810	0.12931228	0.31094	0.09681208	0.22809	0.12931228	0.31094	3.359	0.00015	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	2.090507	0.26594	17.17	0.15872056406126045	0.00404	0.74711	0.36555	D	AEFDGBI	0.136260	0.25686	N	-0.923050984542219	0.10304	0.4917672	-0.581236897984816	0.19982	1.074571	0.870688873629593	0.25410	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.65	3.76	0.42368	1.558000	0.35917	3.329000	0.37611	0.589000	0.31548	0.946000	0.32893	0.998000	0.33993	0.969000	0.54022	0.0:0.7002:0.2998:0.0	13.494	0.60866	994	0.00715	Cadherin-like;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	4590.35	69	chr18	65824683	.	C	G	4590.35	.	AC=20;AF=0.500;AN=40;BaseQRankSum=0.297;DP=1960;ExcessHet=43.6797;FS=200.513;InbreedingCoeff=-0.9189;MLEAC=20;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.74;ReadPosRankSum=1.02;SOR=12.568	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,28:90:99:0|1:65824683_C_G:223,0,1247:65824683	0	0	20	1
chr18	74633603	74633603	A	G	exonic	ZNF407	.	nonsynonymous SNV	ZNF407:NM_001146189:exon1:c.A2584G:p.I862V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.537	P	0.203	B	0.369	N	0.574	N	1.07	L	1.66	T	-1.023	T	0.060	T	0.221	2.821	15.40	5.63	2.144	4.985	6.030	0.159	0.00442797101939	.	.	1.656e-05	0.0001	0	0	0	1.499e-05	0	0	1.94e-05	3	154602	rs763401913	7.594e-05	7.593e-05	8.576e-05	6.601e-05	9.893e-05	6.424e-05	6.005e-05	8.39e-05	7.806e-05	0	0	0	0	0	0	9.893e-05	1.656e-05	0	1.971e-05	1.97e-05	2.569e-05	1.344e-05	4.823e-05	5.24e-06	2.45e-06	7.99e-06	2.99e-06	4.823e-05	0	0	0	0	0	0	1.47e-05	0	0	0.446	0.09806	T	1.0	0.01155	T	0.537	0.37852	P	0.203	0.37000	B	0.368918	0.04350	N	1.372850	0.574149	0.31154	N	0.34	0.10450	N	1.66	0.27486	T	0.0	0.07444	N	0.148	0.15046	-1.0232	0.22671	T	0.060	0.24981	T	10	0.046096444	0.03758	T	0.004428	0.10844	T	0.159	0.41286	0.335	0.32329	0.416204396243	0.41236	0.16169674623230695	0.16090	0.114439556271	0.12903	0.506824016571	0.39779	T	0.023772	0.18084	T	-0.370092	0.03589	T	-0.532719	0.19017	T	0.285297930240631	0.24393	T	0.734227	0.35555	T	0.04236513	0.06411	0.04814997	0.07091	0.04236513	0.06410	0.04814997	0.07090	-3.494	0.16348	T	.	.	0.123	0.32469	B	.;.;.;.	.;.;.;.	2.508050	0.32389	19.03	0.99821487260607666	0.90414	0.80429	0.40069	D	AEFDGBI	0.144530	0.26752	N	0.0138128920063521	0.42483	2.560544	0.188894848886064	0.49238	3.129382	0.999999997617627	0.74766	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.63	5.63	0.86108	5.026000	0.63880	9.421000	0.80755	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.7995:0.0:0.2005:0.0	6.030	0.18902	730	0.54327	.;.;.;Zinc finger C2H2-type	.	.	.	.	.	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	0.02381	7102.98	36	chr18	74633603	.	A	G	7102.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.805;DP=4626;ExcessHet=0.0000;FS=1.729;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=1.81;SOR=0.581	GT:AD:DP:GQ:PL	0/1:295,275:570:99:7117,0,8005	20	0	1	0
chr18	76378909	76378909	A	G	exonic	ZNF516	.	nonsynonymous SNV	ZNF516:NM_014643:exon4:c.T3205C:p.F1069L,	.	.	420	1078	22	2	0	26	0.0119157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.103	N	0.644	N	0	N	3.39	T	-0.982	T	0.035	T	0.186	-0.129	3.367	-0.563	-0.197	3.490	7.794	0.076	.	0.0066	0.00279553	0.0060	0.0015	0.0039	0	0.0017	0.0089	0.0068	0.0031	0.0059184	915	154602	rs140499406	0.0083	0.0083	0.0084	0.0082	0.0108	0.0082	0.0081	0.0095	0.0095	0.0014	0.0045	0.0083	5.038e-05	0.0022	0.0108	0.0097	0.0073	0.0026	0.0054	0.0054	0.0057	0.0051	0.0086	0.0051	0.0050	0.0080	0.0078	0.0021	0	0.0048	0.0078	0	0.0012	0.0170	0.0086	0.0099	0.0023	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.103134	0.19762	N	0.482470	0.643972	0.30591	N	0.29	0.10111	N	3.39	0.05710	T	0.65	0.02332	N	0.047	0.01911	-0.9816	0.34632	T	0.035	0.15204	T	10	0.0054219663	0.00119	T	.	.	.	0.076	0.22200	0.281	0.23642	0.0884992946249	0.08302	0.2916026049619296	0.29073	0.0782960899249	0.08811	0.440404832363	0.30632	T	0.002746	0.02136	T	-0.578857	0.00196	T	-0.597015	0.13063	T	0.00715857606445842	0.00082	T	0.60444	0.22695	T	0.043076467	0.06649	0.045342695	0.06080	0.043076467	0.06649	0.045342695	0.06080	1.173	0.00112	T	.	.	0.277	0.51005	B	.	.	1.266304	0.16643	12.67	0.75895699557277529	0.11253	0.37147	0.25695	N	AEFDBCI	0.061532	0.11769	N	-0.27753970283797	0.30017	1.669909	-0.255308672046322	0.29589	1.658939	0.996029901456306	0.34476	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.8	-0.563	0.11188	3.697000	0.54497	2.493000	0.32993	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.456000	0.28029	0.34:0.0:0.66:0.0	7.794	0.28302	991	0.01385	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1719.98	33	chr18	76378909	.	A	G	1719.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.445;DP=816;ExcessHet=0.0000;FS=3.137;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.93;ReadPosRankSum=-5.170e-01;SOR=0.446	GT:AD:DP:GQ:PL	0/1:61,72:133:99:1734,0,1371	20	0	1	0
chr18	76927353	76927353	T	C	exonic	ZNF236	.	nonsynonymous SNV	ZNF236:NM_001306089:exon24:c.T4250C:p.L1417P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.0	B	0.001	B	0.242	N	1.000	N	0.805	L	2.84	T	-0.955	T	0.026	T	0.136	2.043	12.79	-4.16	-1.043	0.603	9.434	0.047	0.0398389361887	.	.	4.978e-05	0	0	0	0	0	0.0022	0.0002	3.88e-05	6	154602	rs765826272	2.668e-05	2.668e-05	1.225e-05	4.125e-05	0.0003	1.997e-05	1.754e-05	0.0002	0.0002	0	0	0	0	0	0	9.892e-06	1.656e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.053	0.48080	T	0.0	0.02946	B	0.001	0.04355	B	0.241878	0.03588	N	1.604580	0.999999	0.08975	N	1.935	0.51832	L	2.71	0.12473	T	-1.38	0.34198	N	0.135	0.15046	-0.9551	0.40078	T	0.026	0.11176	T	10	0.053134203	0.05457	T	0.039839	0.59037	D	0.047	0.12962	0.252	0.19067	0.0675242888579	0.06100	0.621800572120381	0.62113	1.00697876116	0.74614	0.347870826721	0.17608	T	0.03116	0.21915	T	-0.521263	0.00433	T	-0.670379	0.07584	T	0.255819737911224	0.23131	T	0.79622	0.43953	T	0.108059354	0.25552	0.076779805	0.17040	0.108059354	0.25551	0.076779805	0.17040	-4.477	0.30586	T	.	.	0.086	0.10449	B	.;.	.;.	0.693653	0.10624	7.325	0.84315479882013278	0.15220	0.14156	0.18253	N	AEFGBI	0.110257	0.21870	N	-1.28094859542144	0.03904	0.1752944	-1.33726479227491	0.03958	0.1857217	0.981310279120585	0.30246	0.732398	0.92422	0	0.615513	0.52658	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.81	-4.16	0.03606	0.615000	0.24023	-1.057000	0.06464	-0.278000	0.06506	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5004:0.123:0.3765	9.434	0.37794	877	0.30165	.;.	.	.	.	.	.	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	0.02381	2027.98	36	chr18	76927353	.	T	C	2027.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.985e+00;DP=886;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.25;ReadPosRankSum=-9.270e-01;SOR=0.646	GT:AD:DP:GQ:PL	0/1:66,87:153:99:2042,0,1666	20	0	1	0
chr18	78993030	78993030	G	A	exonic	SALL3	.	nonsynonymous SNV	SALL3:NM_171999:exon2:c.G1039A:p.A347T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.006	B	0.006	B	0.001	N	1.000	N	0.625	N	2.97	T	-1.020	T	0.022	T	0.093	1.430	10.72	4.37	2.269	4.720	17.122	0.079	0.00802967873222	.	.	0.0008	0	0.0040	0.0032	0	0.0002	0	0	0.0001552	24	154602	rs778150835	5.939e-05	6.567e-05	5.47e-05	6.415e-05	0.0007	4.902e-05	4.512e-05	0.0005	0.0004	0	0.0007	0	0.0003	0	0	3.376e-05	8.531e-05	2.465e-05	7.262e-05	7.224e-05	6.451e-05	8.111e-05	0.0006	3.989e-05	3.141e-05	0.0003	0.0002	0	0	0.0006	0	0	0	0	1.473e-05	0.0005	0	0.216	0.19225	T	0.574	0.09022	T	0.006	0.13644	B	0.006	0.12133	B	0.001124	0.40136	N	0.106321	0.999883	0.19853	N	0.735	0.18861	N	3.23	0.09450	T	-0.9	0.24244	N	0.045	0.03726	-1.0198	0.23780	T	0.022	0.09330	T	10	0.01181832	0.00257	T	0.00803	0.21290	T	0.079	0.23065	0.36	0.36385	0.440498838766	0.43668	0.37147018434705453	0.37061	0.381747276443	0.39521	0.592620611191	0.51864	T	0.074574	0.34970	T	-0.542234	0.00325	T	-0.66028	0.08247	T	0.0443263261946486	0.04479	T	0.772623	0.40598	T	0.042554267	0.06474	0.06754759	0.13987	0.042554267	0.06473	0.06754759	0.13987	-4.742	0.34997	T	.	.	0.092	0.13876	B	.;.;.	.;.;.	2.345234	0.30063	18.32	0.83751553244928523	0.14899	0.75617	0.37033	D	AEFBCI	0.242800	0.36419	N	-0.353904807594003	0.27128	1.485971	-0.222976713367989	0.30714	1.731759	0.999186508673965	0.38681	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.37	4.37	0.51830	5.041000	0.63995	6.377000	0.55534	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	0.0:0.0:1.0:0.0	17.122	0.86581	.	.	.;.;.	.	.	.	.	.	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	0.02381	751.98	33	chr18	78993030	.	G	A	751.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.080e-01;DP=764;ExcessHet=0.0000;FS=2.562;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.97;ReadPosRankSum=-2.300e-02;SOR=0.370	GT:AD:DP:GQ:PL	0/1:28,30:58:99:766,0,756	20	0	1	0
chr18	79373903	79373903	A	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.A3076G:p.I1026V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.003	B	0.000	N	1.000	D	-0.06	N	-0.34	T	-1.000	T	0.106	T	0.201	-0.358	2.310	3.71	0.793	5.868	10.024	0.086	0.0104317513341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0012	0.0004	0.0004	0.0005	0.0004	0.0004	0.0004	0.0004	0.0003	0	0.0001	2.767e-05	4.173e-05	0.0005	0.0005	0.0003	0.0001	0	6.588e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.08700	B	0.000007	0.62929	N	0.106321	0.999956	0.52396	D	.	.	.	-0.34	0.68474	T	0.49	0.02993	N	0.356	0.39760	-1.0003	0.29831	T	0.106	0.38685	T	10	0.17882419	0.32987	T	0.010432	0.26958	T	0.125	0.34456	0.516	0.61611	0.557831953242	0.55443	0.32797818657124184	0.32710	0.19016546305	0.21331	0.641342043877	0.58755	T	0.051017	0.28760	T	-0.0924065	0.37678	T	-0.370512	0.36829	T	0.962732970714569	0.66454	D	0.929107	0.73907	D	0.025876695	0.01576	0.035724007	0.02878	0.025876695	0.01576	0.035724007	0.02878	-4.704	0.33453	T	.	.	0.076	0.05756	B	.;.	.;.	1.506156	0.19358	14.22	0.4022302230854744	0.02825	0.97863	0.77695	D	AEFBI	0.690181	0.65060	D	-0.529217151314464	0.21140	1.119708	-0.32364514690563	0.27337	1.516199	0.922846515319302	0.26722	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.71	0.41733	5.906000	0.69639	0.174000	0.15553	0.756000	0.94297	1.000000	0.71638	0.001000	0.17328	0.726000	0.34967	0.9163:0.0:0.0837:0.0	10.024	0.41234	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2308	1270.66	37	chr18	79373903	.	A	G	1270.66	.	AC=6;AF=0.231;AN=26;BaseQRankSum=-1.120e+00;DP=912;ExcessHet=2.0135;FS=176.158;InbreedingCoeff=-0.3148;MLEAC=8;MLEAF=0.308;MQ=60.00;MQRankSum=0.00;QD=5.08;ReadPosRankSum=0.253;SOR=8.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,15:46:99:0|1:79373902_C_T:396,0,1089:79373902	7	0	6	8
chr18	79373905	79373905	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3078G:p.I1026M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.354	B	0.097	B	0.000	D	1.000	D	2.775	M	-0.78	T	-0.794	T	0.230	T	0.523	1.377	10.53	-2.28	-0.455	-0.373	8.239	0.085	0.0345994434534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0038	0.0009	0.0008	0.0010	0.0008	0.0008	0.0010	0.0009	0.0006	2.243e-05	0.0002	0.0001	1.877e-05	0.0007	0.0010	0.0008	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.26409	T	0.131	0.34959	T	0.354	0.33710	B	0.045	0.30390	B	0.000007	0.62929	D	0.106321	1	0.81001	D	.	.	.	-0.78	0.73631	T	-1.25	0.31576	N	0.772	0.80473	-0.7945	0.55467	T	0.230	0.59608	T	10	0.6346408	0.68711	D	0.034599	0.55783	D	0.342	0.66392	0.54	0.65161	0.652458548239	0.64956	0.694288075113171	0.69369	0.260033580267	0.28572	0.683687150478	0.64798	T	0.10075	0.40685	T	-0.0241352	0.48263	T	-0.272445	0.47572	T	0.36296334862709	0.27525	T	0.933407	0.75038	D	0.09914479	0.23395	0.10145065	0.24287	0.09914479	0.23395	0.10145065	0.24286	-6.858	0.52989	T	.	.	0.133	0.28835	B	.;.	.;.	1.363101	0.17722	13.33	0.95841953356481135	0.27968	0.40437	0.26436	N	AEFBI	0.191278	0.31848	N	-0.675120176808742	0.16732	0.8550748	-0.728338547967329	0.16257	0.8591364	0.00264162814707333	0.09600	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	-2.28	0.06438	-0.715000	0.05099	-0.654000	0.08013	-0.182000	0.10109	0.002000	0.15269	0.008000	0.19753	0.773000	0.36634	0.0995:0.4512:0.0:0.4493	8.239	0.30810	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	2387.64	32	chr18	79373905	.	C	G	2387.64	.	AC=10;AF=0.500;AN=20;BaseQRankSum=2.00;DP=837;ExcessHet=9.8992;FS=418.465;InbreedingCoeff=-0.4008;MLEAC=16;MLEAF=0.800;MQ=60.00;MQRankSum=0.00;QD=6.15;ReadPosRankSum=1.06;SOR=9.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,15:46:99:0|1:79373902_C_T:396,0,1089:79373902	0	0	10	11
chr18	79373906	79373906	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3079G:p.L1027V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.019	B	0.031	B	0.000	D	1.000	D	0.325	N	-1.0	T	-0.993	T	0.086	T	0.404	1.590	11.27	3.95	2.415	0.944	7.951	0.179	0.0300084248149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	1.363e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.066	0.44501	T	0.011	0.17989	B	0.014	0.21939	B	0.000044	0.53742	D	0.072519	1	0.81001	D	.	.	.	-1.0	0.76037	T	0.63	0.02404	N	0.643	0.67132	-0.9931	0.31801	T	0.086	0.33578	T	10	0.3595691	0.52622	T	0.030008	0.52407	D	0.228	0.52768	0.556	0.67409	0.716971919736	0.71448	0.6714160944778895	0.67079	0.231826800128	0.25737	0.712757587433	0.68993	T	0.06665	0.32998	T	-0.00324871	0.51206	T	-0.242443	0.50560	T	0.988950908184052	0.79227	D	0.769823	0.39947	T	0.086578995	0.20131	0.08379029	0.19227	0.086578995	0.20130	0.08379029	0.19227	-9.254	0.75058	D	.	.	0.157	0.34775	B	.;.	.;.	2.695608	0.35200	19.83	0.99167772354724137	0.54298	0.79215	0.39211	D	AEFBI	0.229011	0.35260	N	-0.22633195655759	0.32055	1.803854	-0.118404370068464	0.34647	1.995432	0.0147255712762604	0.12630	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.95	0.44952	0.466000	0.21731	3.026000	0.36022	0.599000	0.40250	0.056000	0.21631	0.996000	0.32793	0.811000	0.38219	0.1604:0.7591:0.0:0.0805	7.951	0.29178	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	2047.46	32	chr18	79373906	.	C	G,T	2047.46	.	AC=7,1;AF=0.292,0.042;AN=24;BaseQRankSum=-8.380e-01;DP=858;ExcessHet=5.5058;FS=304.536;InbreedingCoeff=-0.1933;MLEAC=11,2;MLEAF=0.458,0.083;MQ=60.00;MQRankSum=0.00;QD=6.54;ReadPosRankSum=1.07;SOR=9.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,15,0:46:99:0|1:79373902_C_T:396,0,1089,489,1134,1623:79373902	4	0	7	9
chr18	79373906	79373906	C	T	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3079T:p.L1027F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.682	P	0.361	B	0.000	D	1.000	D	0.83	L	-1.06	T	-0.935	T	0.119	T	0.428	2.268	13.54	3.95	2.415	0.944	7.951	0.093	0.0284690929236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	0	1.376e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.554	0.41464	P	0.197	0.43233	B	0.000044	0.53742	D	0.072519	0.999999	0.58761	D	.	.	.	-1.06	0.76819	T	-2.04	0.46842	N	0.573	0.62950	-0.9349	0.43409	T	0.119	0.41648	T	10	0.361637	0.52779	T	0.028469	0.51139	D	0.365	0.68495	0.508	0.60386	0.815369968599	0.81363	0.8176144227679487	0.81718	0.338732872668	0.35836	0.746733427048	0.73965	T	0.144628	0.48135	T	0.0232865	0.54826	T	-0.204327	0.54237	T	0.985363662242889	0.76380	D	0.961204	0.85427	D	0.28799716	0.51806	0.31295186	0.57294	0.28799716	0.51806	0.31295186	0.57294	-11.447	0.83762	D	.	.	0.676	0.71986	P	.;.	.;.	3.098208	0.41745	21.4	0.99739806707809964	0.83409	0.69529	0.34224	D	AEFBI	0.189841	0.31708	N	-0.293001453477025	0.29417	1.631174	-0.168557634840095	0.32700	1.863048	0.0147255712762604	0.12630	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.95	0.44952	0.466000	0.21731	3.026000	0.36022	0.599000	0.40250	0.056000	0.21631	0.996000	0.32793	0.811000	0.38219	0.1604:0.7591:0.0:0.0805	7.951	0.29178	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	2047.46	32	chr18	79373906	.	C	G,T	2047.46	.	AC=7,1;AF=0.292,0.042;AN=24;BaseQRankSum=-8.380e-01;DP=858;ExcessHet=5.5058;FS=304.536;InbreedingCoeff=-0.1933;MLEAC=11,2;MLEAF=0.458,0.083;MQ=60.00;MQRankSum=0.00;QD=6.54;ReadPosRankSum=1.07;SOR=9.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,15,0:46:99:0|1:79373902_C_T:396,0,1089,489,1134,1623:79373902	4	0	7	9
chr18	79411164	79411164	G	A	exonic	NFATC1	.	nonsynonymous SNV	NFATC1:NM_001278669:exon2:c.G889A:p.D297N	.	.	423	1092	7	0	0	7	0.00319489	.	.	727817	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.995	D	0.747	P	0.001	D	1.000	D	2.095	M	-1.21	T	-0.109	T	0.366	T	0.15	5.148	32	4.96	2.578	9.261	18.396	0.369	.	0.0006	0.00259585	0.0009	0.0001	0.0008	0.0049	0	0.0007	0.0024	0.0004	0.0008021	124	154602	rs76525142	0.0010	0.0010	0.0010	0.0010	0.0184	0.0010	0.0009	0.0173	0.0168	0.0001	0.0009	0.0004	0.0184	3.864e-05	0.0064	0.0005	0.0011	0.0004	0.0007	0.0007	0.0008	0.0006	0.0083	0.0006	0.0005	0.0064	0.0057	9.621e-05	0	0.0003	0.0006	0.0083	0	0	0.0006	0.0005	0.0012	0.05	0.41637	D	0.085	0.69154	T	0.985	0.61118	D	0.647	0.52336	P	0.000635	0.42799	D	0.262361	0.999981	0.81001	D	2.6	0.76081	M	-1.21	0.78645	T	-2.45	0.56630	N	0.405	0.46835	-0.1092	0.79886	T	0.366	0.72620	T	10	0.010182321	0.00228	T	.	.	.	0.369	0.68844	.	.	0.781335839245	0.77931	0.3314206422243107	0.33055	0.690193461659	0.60522	0.597861468792	0.52602	T	0.113465	0.85550	T	-0.321469	0.06779	T	-0.234552	0.51328	T	0.0697725894504532	0.08619	T	0.962304	0.88413	D	0.11334826	0.26770	0.12698059	0.30574	0.11334826	0.26770	0.12698059	0.30573	-13.719	0.92744	D	.	.	0.164	0.42022	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.122557	0.85684	28.7	0.99859950430616551	0.93820	0.99463	0.96341	D	AEFDBI	0.869276	0.78973	D	0.590775566515301	0.72599	5.831061	0.539892484194243	0.70698	5.543439	0.99999999999988	0.74766	0.700653	0.57754	0	0.702456	0.74545	0	0.717052	0.78885	0	0.635551	0.53088	0	.	.	4.96	4.96	0.65153	9.605000	0.97771	11.698000	0.94457	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:1.0:0.0	18.396	0.90443	.	.	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.02381	1889.98	64	chr18	79411164	.	G	A	1889.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.269;DP=1496;ExcessHet=0.0000;FS=0.572;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.45;ReadPosRankSum=-1.179e+00;SOR=0.627	GT:AD:DP:GQ:PL	0/1:85,80:165:99:1904,0,2047	20	0	1	0
chr19	287703	287703	G	A	exonic	PLPP2	.	nonsynonymous SNV	PLPP2:NM_003712:exon3:c.C253T:p.R85C	.	.	430	1079	13	0	0	13	0.00598802	.	.	3185283	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.899	P	0.003	N	1.000	D	2.175	M	1.41	T	-0.033	T	0.427	T	0.36	1.818	12.04	5.03	2.339	5.071	12.888	0.269	.	0.0053	0.00319489	0.0055	0.0012	0.0011	0	0.0083	0.0075	0.0100	0.0048	0.0052975	819	154602	rs61745392	0.0073	0.0073	0.0075	0.0072	0.0081	0.0072	0.0072	0.0080	0.0079	0.0012	0.0010	0.0110	2.519e-05	0.0090	0.0042	0.0081	0.0066	0.0050	0.0046	0.0046	0.0048	0.0043	0.0072	0.0043	0.0042	0.0067	0.0065	0.0011	0	0.0014	0.0081	0	0.0073	0	0.0072	0.0047	0.0050	0.01	0.56456	D	0.014	0.62352	D	1.0	0.90584	D	0.899	0.63802	P	0.002594	0.36278	N	0.301489	0.999784	0.50806	D	.	.	.	-0.96	0.75553	T	-4.29	0.76414	D	0.468	0.55886	-0.0327	0.81573	T	0.427	0.77048	T	10	0.009733021	0.00219	T	.	.	.	0.269	0.58381	.	.	0.883236127117	0.88209	0.8945985127888705	0.89430	1.14340301719	0.79003	0.414103150368	0.27024	T	0.397734	0.75602	T	-0.265803	0.12229	T	-0.150859	0.59167	T	0.0284881090014217	0.01760	T	0.759724	0.38410	T	0.26032472	0.49088	0.17647563	0.40184	0.26032472	0.49088	0.17647563	0.40183	-11.849	0.84108	D	.	.	0.107	0.38871	B	.;.;.;.;.	.;.;.;.;.	4.618677	0.73312	26.0	0.99827801071768196	0.91026	0.94292	0.60703	D	AEFDBI	0.755928	0.69535	D	0.560018066947519	0.70694	5.539335	0.501810052330444	0.68114	5.175376	0.971136005609381	0.29263	0.722319	0.85440	0	0.547309	0.14657	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	5.03	0.67015	5.126000	0.64561	7.216000	0.57834	0.662000	0.56354	1.000000	0.71638	0.999000	0.35428	0.655000	0.32830	0.0:0.0:0.8368:0.1632	12.888	0.57446	988	0.01987	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2390.11	35	chr19	287703	.	G	A	2390.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.75;DP=858;ExcessHet=0.1072;FS=1.945;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.21;ReadPosRankSum=1.31;SOR=0.536	GT:AD:DP:GQ:PL	0/1:48,46:94:99:1219,0,1226	19	0	2	0
chr19	501743	501743	-	CCCGACACCACCTCCCAGGAGC	exonic	MADCAM1	.	frameshift insertion	MADCAM1:NM_130760:exon4:c.742_743insCCCGACACCACCTCCCAGGAGC:p.P249Rfs*53,	.	.	978	231	47	127	139	440	0.394495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0007	0.0002	0.0008	0	0.0002	0	0	6.5e-06	1	154602	.	0.0056	0.0059	0.0048	0.0063	0.0110	0.0054	0.0054	0.0102	0.0099	0.0025	0.0092	0.0049	0.0104	0.0032	0.0024	0.0048	0.0059	0.0110	0.0062	0.0070	0.0061	0.0063	0.0266	0.0057	0.0055	0.0217	0.0198	0.0045	0.0050	0.0046	0.0039	0.0266	0.0078	0.0165	0.0058	0.0090	0.0049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	46021.53	35	chr19	501743	.	T	TCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCAGGAGC,C,TCCCGACACCACCTCCCAGGAGC	46021.53	.	AC=29,4,1;AF=0.690,0.095,0.024;AN=42;BaseQRankSum=-6.390e-01;DP=1856;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=29,4,1;MLEAF=0.690,0.095,0.024;MQ=58.52;MQRankSum=-7.810e-01;QD=29.75;ReadPosRankSum=-1.790e+00;SOR=0.644	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,41,0,0:43:99:.:.:2745,198,0,2270,200,2166,2270,200,2166,2166	1	10	5	0
chr19	1071341	1071341	G	A	exonic	ARHGAP45	.	nonsynonymous SNV	ARHGAP45:NM_001282335:exon1:c.G53A:p.C18Y,	.	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.902	P	0.202	B	.	.	0.984	N	.	.	2.11	T	-1.042	T	0.033	T	0.143	1.680	11.58	2.05	1.484	1.062	7.651	0.045	0.014981958383	.	.	0.0018	0	0	0	.	0	0	0.0024	8.41e-05	13	154602	rs753591775	0.0007	0.0006	0.0007	0.0007	0.0018	0.0006	0.0006	0.0015	0.0014	4.324e-05	0.0005	0	0	0.0002	0.0003	0.0007	0.0007	0.0018	0.0002	0.0002	0.0003	0.0002	0.0008	0.0002	0.0002	0.0003	0.0003	2.419e-05	0	0	0	0	9.806e-05	0	0.0004	0.0005	0.0008	0.0	0.91255	D	0.044	0.49663	D	0.902	0.49745	P	0.202	0.36942	B	.	.	.	.	1	0.24839	N	.	.	.	2.11	0.19860	T	-0.55	0.16799	N	0.272	0.30800	-1.0417	0.16800	T	0.033	0.14160	T	8	0.009696931	0.00218	T	0.014982	0.35442	T	0.045	0.12272	.	.	0.143124449307	0.13826	.	.	.	.	.	.	.	0.018637	0.14992	T	-0.571523	0.00217	T	-0.598657	0.12925	T	0.061389980878403	0.07386	T	0.424358	0.11346	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.22644	B	.	.	0.818823	0.11898	8.464	0.96988296483021841	0.31892	0.10100	0.15698	N	AEFDBHCI	0.056408	0.10426	N	-0.41881897673989	0.24810	1.342256	-0.601341491962818	0.19458	1.044079	0.999999996686491	0.74766	0.495885	0.18260	0	0.379588	0.06130	0	0.391439	0.06340	0	0.554799	0.18163	0	.	.	2.05	2.05	0.25860	0.666000	0.24779	1.940000	0.29824	0.582000	0.30178	0.001000	0.13787	0.242000	0.23858	0.018000	0.11154	0.0:0.0:1.0:0.0	7.651	0.27515	982	0.03397	.	.	.	.	.	.	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	0.02381	230.98	16	chr19	1071341	.	G	A	230.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.673;DP=537;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.22;ReadPosRankSum=-1.538e+00;SOR=0.616	GT:AD:DP:GQ:PL	0/1:20,12:32:99:245,0,434	20	0	1	0
chr19	1978928	1978928	G	T	exonic	CSNK1G2	.	nonsynonymous SNV	CSNK1G2:NM_001319:exon6:c.G517T:p.V173L,	.	.	399	1113	9	1	0	11	0.0049173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.002	B	0.014	B	0.000	D	0.826	D	-0.32	N	0.09	T	-1.034	T	0.058	T	0.342	2.576	14.57	3.39	0.831	3.680	7.578	0.065	0.0398336805826	0.0033	0.00159744	0.0037	0.0007	0.0006	0.0004	0.0015	0.0051	0.0059	0.0045	0.0033441	517	154602	rs144771760	0.0059	0.0059	0.0061	0.0058	0.0071	0.0058	0.0058	0.0069	0.0069	0.0007	0.0004	0.0010	0.0002	0.0013	0.0023	0.0071	0.0045	0.0041	0.0033	0.0033	0.0039	0.0028	0.0057	0.0031	0.0030	0.0052	0.0050	0.0010	0.0538	0.0003	0	0.0002	0.0007	0	0.0057	0.0019	0.0027	0.098	0.30800	T	0.074	0.42976	T	0.002	0.09854	B	0.014	0.16862	B	0.000001	0.84330	D	0.000000	0.826193	0.34849	D	0.115	0.08564	N	0.09	0.61443	T	-0.82	0.22508	N	0.454	0.49146	-1.0345	0.19014	T	0.058	0.24167	T	10	0.012103677	0.00261	T	0.039834	0.59037	D	0.065	0.18881	0.504	0.59770	0.36254010156	0.35860	0.7801115442774701	0.77962	1.22569907109	0.81205	0.71203994751	0.68888	T	0.098641	0.40266	T	-0.390315	0.02678	T	-0.33138	0.41316	T	0.0226521114524081	0.00983	T	0.89491	0.63503	D	0.39430714	0.60336	0.18778533	0.42031	0.39430714	0.60336	0.18778533	0.42030	-10.463	0.76634	D	.	.	0.438	0.61617	A	.	.	3.347830	0.46161	22.3	0.98894571893761685	0.48073	0.77747	0.38263	D	AEFDGBCI	0.378070	0.46160	N	-0.347379808711691	0.27368	1.50102	-0.156019050286871	0.33178	1.895152	0.0386259834366868	0.14356	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.45	3.39	0.37919	3.778000	0.55078	7.065000	0.57419	0.570000	0.28895	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1828:0.6285:0.1887	7.578	0.27115	982	0.03397	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	0.02381	2530.98	36	chr19	1978928	.	G	T	2530.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.300e-01;DP=953;ExcessHet=0.0000;FS=3.378;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.61;ReadPosRankSum=2.21;SOR=0.473	GT:AD:DP:GQ:PL	0/1:83,103:186:99:2545,0,1916	20	0	1	0
chr19	2076975	2076975	T	G	exonic	MOB3A	.	nonsynonymous SNV	MOB3A:NM_130807:exon4:c.A460C:p.K154Q,	.	.	437	1073	10	2	0	14	0.00648148	.	.	2815126	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.42	T	0.345	B	0.261	B	0.000	D	1.000	D	1.82	L	.	.	-0.931	T	0.136	T	0.444	2.084	12.93	3.58	1.505	7.523	11.112	0.187	0.00941151321683	0.0065	0.00139776	0.0042	0.0008	0.0005	0	0.0010	0.0062	0.0047	0.0045	0.0044437	687	154602	rs141042584	0.0073	0.0073	0.0074	0.0071	0.0087	0.0071	0.0071	0.0085	0.0085	0.0011	0.0005	0.0030	7.557e-05	0.0009	0.0024	0.0087	0.0054	0.0049	0.0043	0.0043	0.0049	0.0037	0.0073	0.0040	0.0039	0.0067	0.0065	0.0012	0.0549	0.0012	0.0032	0.0002	0.0008	0	0.0073	0.0038	0.0031	0.286	0.15201	T	0.143	0.33219	T	0.345	0.33546	B	0.261	0.39516	B	0.000240	0.47286	D	0.214672	1	0.81001	D	1.65	0.42232	L	.	.	.	-2.2	0.49519	N	0.783	0.77978	-0.9314	0.43933	T	0.136	0.45126	T	9	0.014317423	0.00301	T	0.009412	0.24670	T	0.187	0.46274	.	.	0.260735089382	0.25697	0.5406461721908666	0.53989	0.145953163307	0.16482	0.583784043789	0.50618	T	0.066791	0.33036	T	-0.309502	0.07791	T	-0.206967	0.53985	T	0.0575138201066219	0.06771	T	0.949605	0.80601	D	0.2988249	0.52799	0.14128055	0.33651	0.2988249	0.52799	0.14128055	0.33650	-11.789	0.83807	D	.	.	0.719	0.73780	P	.;.	.;.	4.312663	0.65933	24.9	0.96096187549802137	0.28700	0.95487	0.64916	D	AEFDBHCIJ	0.932686	0.92341	D	-0.0108721681130964	0.41361	2.472715	0.0361971156414098	0.41409	2.487322	0.999999999993495	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.58	3.58	0.40133	7.662000	0.82787	7.496000	0.59428	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.0:1.0	11.112	0.47459	964	0.07719	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	926.98	33	chr19	2076975	.	T	G	926.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.230e-01;DP=785;ExcessHet=0.0000;FS=3.891;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.46;ReadPosRankSum=1.75;SOR=0.370	GT:AD:DP:GQ:PL	0/1:57,41:98:99:941,0,1463	20	0	1	0
chr19	2989541	2989541	G	A	exonic	TLE6	.	nonsynonymous SNV	TLE6:NM_024760:exon12:c.G631A:p.G211R	Preimplantation embryonic lethality, Autosomal recessive	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.2	B	0.051	B	.	.	1.000	N	-0.145	N	2.77	T	-0.966	T	0.012	T	0.096	1.403	10.63	-0.34	0.027	3.609	3.210	0.088	0.0071533926068	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394043074	6.852e-07	6.84e-07	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.886e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.322	0.13479	T	0.616	0.07543	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.955	0.23872	L	2.77	0.11407	T	-2.12	0.48184	N	0.184	0.19995	-0.9660	0.38013	T	0.012	0.04463	T	9	0.09512219	0.16967	T	0.007153	0.18951	T	0.088	0.25558	.	.	0.257786959452	0.25393	0.40542967927288276	0.40458	0.359402147737	0.37631	0.27626568079	0.06978	T	0.06343	0.32173	T	-0.324258	0.06555	T	-0.70355	0.05634	T	0.110523255673142	0.13477	T	0.654634	0.26482	T	0.06725806	0.14548	0.079358995	0.17859	0.06725806	0.14548	0.079358995	0.17858	-7.222	0.55639	T	.	.	0.163	0.38959	B	.;.	.;.	2.254994	0.28807	17.92	0.8576653372239823	0.16099	0.38944	0.26102	N	AEFGBI	0.225444	0.34953	N	-0.911859315810561	0.10563	0.5054018	-0.929410652340262	0.11402	0.5806469	1.18801672373978E-4	0.05269	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.15	-0.34	0.12016	3.579000	0.53645	0.566000	0.19559	0.567000	0.28720	0.374000	0.25957	0.000000	0.08366	0.187000	0.21511	0.2899:0.2522:0.4579:0.0	3.210	0.06283	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1195.98	40	chr19	2989541	.	G	A	1195.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.247e+00;DP=797;ExcessHet=0.0000;FS=1.902;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.77;ReadPosRankSum=0.787;SOR=0.454	GT:AD:DP:GQ:PL	0/1:35,46:81:99:1210,0,944	20	0	1	0
chr19	4171934	4171934	C	T	exonic	CREB3L3	.	nonsynonymous SNV	CREB3L3:NM_001271995:exon10:c.C1348T:p.R450C	.	.	.	.	.	.	.	.	.	.	.	1938459	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.998	D	0.649	P	.	.	0.677	D	0.805	L	-1.85	D	0.124	D	0.475	T	0.158	2.073	12.89	3.27	2.128	0.646	10.312	0.257	0.304062201958	7.7e-05	.	8.335e-05	0	0	0	0	0.0001	0	7.017e-05	5.17e-05	8	154602	rs201461744	7.546e-05	7.593e-05	7.371e-05	7.724e-05	9.183e-05	6.4e-05	5.955e-05	7.693e-05	7.18e-05	0	0	0	2.525e-05	1.936e-05	0	9.183e-05	8.306e-05	1.163e-05	6.57e-05	6.567e-05	6.421e-05	6.726e-05	0.0001	3.516e-05	2.616e-05	6.804e-05	5.088e-05	2.412e-05	0	0	0	0	0	0	0.0001	0	0	0.001	0.78490	D	0.01	0.66756	D	0.997	0.73220	D	0.446	0.52426	B	.	.	.	.	0.677139	0.33198	D	0.975	0.24501	L	-1.85	0.84267	D	-2.34	0.51811	N	0.06	0.24260	0.124	0.84606	D	0.475	0.79857	T	9	0.18009484	0.33176	T	0.304062	0.90976	D	0.257	0.56827	.	.	0.881602746361	0.88044	0.11865364286689471	0.11792	0.196977455865	0.22071	0.352024614811	0.18220	T	0.267163	0.63918	T	-0.220898	0.17872	T	-0.306772	0.44004	T	0.146855153559311	0.16850	T	0.580842	0.21027	T	0.1733859	0.38084	0.21742333	0.46407	0.1733859	0.38083	0.21742333	0.46406	-6.869	0.53070	T	.	.	0.100	0.23500	B	.;.;.	.;.;.	1.774719	0.22568	15.67	0.99076609325140541	0.51858	0.04468	0.10077	N	AEFDBCI	0.466428	0.51408	N	-0.302909269550725	0.29037	1.606748	-0.45887954338422	0.23297	1.269748	0.893871378333486	0.25916	0.59774	0.34471	0	0.610034	0.51514	0	0.596491	0.31596	0	0.542086	0.14980	0	.	.	3.27	3.27	0.36580	0.681000	0.25001	0.627000	0.20189	0.524000	0.24156	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.0:1.0:0.0:0.0	10.312	0.42898	934	0.15400	.;.;.	.	.	.	.	.	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	0.02381	1084.98	33	chr19	4171934	.	C	T	1084.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.629;DP=866;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.19;ReadPosRankSum=0.080;SOR=0.684	GT:AD:DP:GQ:PL	0/1:52,45:97:99:1099,0,1264	20	0	1	0
chr19	4284792	4284792	A	T	exonic	SHD	.	nonsynonymous SNV	SHD:NM_020209:exon4:c.A604T:p.S202C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.983	D	0.765	P	0.006	N	1.000	N	0.345	N	1.46	T	-1.063	T	0.062	T	0.236	3.444	17.66	1.15	-0.024	1.243	7.183	0.068	0.0145245419453	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.057	0.55341	T	0.981	0.59675	D	0.765	0.56630	P	0.006182	0.32207	N	0.351137	1	0.08975	N	1.445	0.36358	L	1.46	0.32238	T	-2.95	0.61580	D	0.176	0.23884	-1.0628	0.11069	T	0.062	0.25887	T	10	0.13862687	0.26362	T	0.014525	0.34707	T	0.068	0.19811	0.289	0.24921	0.572140347788	0.56880	0.33242635464220055	0.33155	0.153530601654	0.17321	0.491784572601	0.37686	T	0.428504	0.77762	T	-0.196524	0.21306	T	-0.520069	0.20287	T	0.776896178722382	0.44858	D	0.740526	0.36682	T	0.13851285	0.32031	0.16759202	0.38656	0.13851285	0.32031	0.16759202	0.38655	-6.541	0.50602	T	.	.	0.071	0.10979	B	.;.	.;.	3.660640	0.52006	23.2	0.9864945795336868	0.44164	0.72112	0.35309	D	ALL	0.279484	0.39353	N	-0.0562763379718685	0.39321	2.317005	-0.0937528783606843	0.35647	2.064897	0.998190212832151	0.36560	0.59774	0.34471	0	0.596491	0.49125	0	0.459711	0.06710	0	0.562822	0.20929	0	.	.	4.44	1.15	0.19876	1.586000	0.36221	2.596000	0.33495	0.691000	0.84096	0.987000	0.36337	0.999000	0.35428	0.988000	0.63387	0.7018:0.0:0.2982:0.0	7.183	0.24957	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1128.98	33	chr19	4284792	.	A	T	1128.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.300e-02;DP=774;ExcessHet=0.0000;FS=1.759;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.69;ReadPosRankSum=0.444;SOR=0.468	GT:AD:DP:GQ:PL	0/1:42,47:89:99:1143,0,1031	20	0	1	0
chr19	4511563	4511563	C	0	exonic	PLIN4	.	.	.	.	.	463	531	326	1	201	529	0.235971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	17845.03	225	chr19	4511563	.	C	G,*	17845.03	.	AC=5,1;AF=0.179,0.036;AN=28;BaseQRankSum=2.12;DP=9752;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.1556;MLEAC=7,1;MLEAF=0.250,0.036;MQ=59.57;MQRankSum=-4.184e+00;QD=4.80;ReadPosRankSum=-5.230e+00;SOR=0.700	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:384,164,0:548:99:0|1:4511563_C_G:5563,0,15631,6719,16124,22843:4511563	8	0	5	7
chr19	4511566	4511566	A	0	exonic	PLIN4	.	.	.	.	.	415	583	322	1	201	525	0.21745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	16971.48	491	chr19	4511566	.	A	G,*	16971.48	.	AC=5,1;AF=0.227,0.045;AN=22;BaseQRankSum=-9.560e-01;DP=10566;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.2408;MLEAC=8,2;MLEAF=0.364,0.091;MQ=59.53;MQRankSum=-3.775e+00;QD=4.50;ReadPosRankSum=-5.408e+00;SOR=0.715	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:400,163,0:563:99:0|1:4511563_C_G:5473,0,16308,6677,16796,23473:4511563	5	0	5	10
chr19	4511568	4511568	C	0	exonic	PLIN4	.	.	.	.	.	436	567	317	1	201	520	0.219546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	16047.48	490	chr19	4511568	.	C	T,*	16047.48	.	AC=5,1;AF=0.227,0.045;AN=22;BaseQRankSum=-4.580e-01;DP=10596;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.2408;MLEAC=8,2;MLEAF=0.364,0.091;MQ=59.50;MQRankSum=-3.556e+00;QD=4.25;ReadPosRankSum=-5.809e+00;SOR=0.715	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:413,154,0:567:99:0|1:4511563_C_G:5148,0,16880,6391,17342,23733:4511563	5	0	5	10
chr19	4511569	4511569	A	0	exonic	PLIN4	.	.	.	.	.	438	565	317	1	201	520	0.220152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	15602.48	490	chr19	4511569	.	A	G,*	15602.48	.	AC=5,1;AF=0.227,0.045;AN=22;BaseQRankSum=5.73;DP=10604;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.2408;MLEAC=8,2;MLEAF=0.364,0.091;MQ=59.48;MQRankSum=-3.635e+00;QD=4.12;ReadPosRankSum=-5.967e+00;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:418,152,0:570:99:0|1:4511563_C_G:5049,0,17096,6307,17552,23859:4511563	5	0	5	10
chr19	4511586	4511586	A	0	exonic	PLIN4	.	.	.	.	.	414	637	269	1	201	472	0.175405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	8809.48	466	chr19	4511586	.	A	G,*	8809.48	.	AC=5,1;AF=0.227,0.045;AN=22;BaseQRankSum=3.88;DP=10439;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.2408;MLEAC=8,2;MLEAF=0.364,0.091;MQ=59.07;MQRankSum=-2.351e+00;QD=2.30;ReadPosRankSum=-8.743e+00;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:450,104,0:554:99:0|1:4511563_C_G:2977,0,18583,4332,18895,23227:4511563	5	0	5	10
chr19	4511587	4511587	C	0	exonic	PLIN4	.	.	.	.	.	408	646	266	1	201	469	0.171795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	8200.48	466	chr19	4511587	.	C	G,*	8200.48	.	AC=5,1;AF=0.227,0.045;AN=22;BaseQRankSum=2.38;DP=10432;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.2408;MLEAC=8,2;MLEAF=0.364,0.091;MQ=59.03;MQRankSum=-2.455e+00;QD=2.14;ReadPosRankSum=-8.658e+00;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:452,102,0:554:99:0|1:4511563_C_G:2887,0,18673,4248,18979,23227:4511563	5	0	5	10
chr19	4511607	4511607	T	0	exonic	PLIN4	.	.	.	.	.	411	783	127	0	201	328	0.0750148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	239.39	418	chr19	4511607	.	T	C,*	239.39	.	AC=1,1;AF=0.036,0.036;AN=28;BaseQRankSum=6.75;DP=9799;ExcessHet=0.1259;FS=1.507;InbreedingCoeff=0.0559;MLEAC=1,1;MLEAF=0.036,0.036;MQ=57.87;MQRankSum=-6.100e+00;QD=0.16;ReadPosRankSum=-8.626e+00;SOR=0.708	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:461,39,0:500:99:0|1:4511563_C_G:250,0,19240,1638,19357,20995:4511563	12	0	1	7
chr19	4511608	4511608	G	0	exonic	PLIN4	.	.	.	.	.	412	785	124	0	201	325	0.0731995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	196.89	418	chr19	4511608	.	G	A,*	196.89	.	AC=1,1;AF=0.033,0.033;AN=30;BaseQRankSum=2.25;DP=9548;ExcessHet=0.1259;FS=1.507;InbreedingCoeff=0.0930;MLEAC=1,1;MLEAF=0.033,0.033;MQ=57.86;MQRankSum=-6.233e+00;QD=0.13;ReadPosRankSum=-8.347e+00;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:461,38,0:499:99:0|1:4511563_C_G:208,0,19243,1596,19357,20953:4511563	13	0	1	6
chr19	4511635	4511635	C	0	exonic	PLIN4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	177671.52	322	chr19	4511635	.	C	G,*	177671.52	.	AC=25,1;AF=0.833,0.033;AN=30;BaseQRankSum=-7.580e-01;DP=10056;ExcessHet=0.2174;FS=0.730;InbreedingCoeff=0.2169;MLEAC=32,1;MLEAF=1.00,0.033;MQ=57.70;MQRankSum=-7.188e+00;QD=24.86;ReadPosRankSum=1.56;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,417,0:418:99:.:.:13574,1243,0,13576,1250,13583	0	10	4	6
chr19	7697071	7697071	C	G	exonic	FCER2	.	nonsynonymous SNV	FCER2:NM_001207019:exon6:c.G318C:p.L106F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.908	P	0.476	P	0.751	N	1.000	N	0	N	2.31	T	-1.026	T	0.018	T	0.052	1.274	10.16	-8.34	-2.532	-2.910	0.654	0.016	0.00202789015299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.68238	D	0.036	0.53072	D	0.0	0.02946	B	0.001	0.04355	B	0.750668	0.06482	N	1.179010	1	0.08975	N	0	0.06538	N	2.31	0.16794	T	-0.57	0.17417	N	0.119	0.10911	-1.0255	0.21919	T	0.018	0.07518	T	10	0.042461902	0.02998	T	0.002028	0.03695	T	0.016	0.02506	0.248	0.18447	0.110078149338	0.10416	0.058218494152254156	0.05762	0.076144099843	0.08550	0.359895050526	0.19371	T	0.027365	0.20056	T	-0.388486	0.02751	T	-0.795809	0.02010	T	0.13327369077046	0.15681	T	0.444056	0.12368	T	0.069091685	0.15109	0.07100403	0.15153	0.069091685	0.15109	0.07100403	0.15152	-6.108	0.47174	T	.	.	0.098	0.16054	B	.;.;.	.;.;.	-1.134092	0.00601	0.015	0.78867182581039974	0.12487	0.01462	0.04886	N	AEFDBCI	0.033509	0.03993	N	-1.76246345701425	0.00644	0.02776372	-1.90411464150819	0.00481	0.0212881	0.999999995991089	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.550215	0.18615	0	0.542086	0.14980	0	.	.	4.98	-8.34	0.00866	-2.079000	0.01457	-8.944000	0.00890	-1.507000	0.01020	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.26:0.2298:0.2919:0.2183	0.654	0.00778	798	0.45050	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	970.98	34	chr19	7697071	.	C	G	970.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.342e+00;DP=908;ExcessHet=0.0000;FS=0.902;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.49;ReadPosRankSum=1.16;SOR=0.569	GT:AD:DP:GQ:PL	0/1:35,37:72:99:985,0,1074	20	0	1	0
chr19	8109383	8109383	G	C	exonic	FBN3	.	nonsynonymous SNV	FBN3:NM_001321431:exon36:c.C4462G:p.R1488G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.999	D	0.884	P	0.000	U	1.000	D	2.21	M	-2.24	D	0.391	D	0.705	D	0.846	1.713	11.69	3.22	0.892	4.939	11.263	0.737	0.0656315427602	.	.	.	.	.	.	.	.	.	.	.	.	.	rs772561196	2.052e-06	2.052e-06	1.361e-06	2.75e-06	2.319e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	0	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.032	0.53426	D	0.999	0.77913	D	0.884	0.62758	P	0.000000	0.84330	U	0.000000	0.99955	0.47544	D	3.995	0.96723	H	-2.24	0.87194	D	-5.88	0.88699	D	0.882	0.88027	0.391	0.88967	D	0.705	0.89849	D	10	0.9663882	0.96131	D	0.065632	0.69637	D	0.737	0.90852	0.775	0.90080	0.839564151336	0.83803	0.7882452680728784	0.78776	0.843796041893	0.68192	0.561881422997	0.47534	T	0.180627	0.53203	T	0.340542	0.85868	D	0.251388	0.85685	D	0.992354154586792	0.82813	D	0.945505	0.79230	D	0.56582284	0.70831	0.42446926	0.66286	0.56582284	0.70832	0.42446926	0.66286	-12.807	0.88552	D	.	.	0.702	0.73050	P	.;.;.	.;.;.	3.122499	0.42162	21.5	0.99245312501543537	0.56695	0.98531	0.83777	D	AEFDGBIJ	0.708573	0.66293	D	0.237179590365734	0.53010	3.471792	0.0858491546966587	0.43835	2.677161	0.937285696313694	0.27291	0.634777	0.41761	0	0.563428	0.19063	0	0.643519	0.47002	0	0.530356	0.10902	0	.	.	4.29	3.22	0.36041	4.222000	0.58378	.	.	0.614000	0.49286	1.000000	0.71638	0.859000	0.27469	0.111000	0.18785	0.0:0.0:0.6679:0.3321	11.263	0.48325	912	0.21483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1612.98	33	chr19	8109383	.	G	C	1612.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.619;DP=859;ExcessHet=0.0000;FS=5.850;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.41;ReadPosRankSum=-9.030e-01;SOR=1.131	GT:AD:DP:GQ:PL	0/1:85,70:155:99:1627,0,1966	20	0	1	0
chr19	8498827	8498827	-	C	exonic	PRAM1	.	frameshift insertion	PRAM1:NM_032152:exon2:c.980dupG:p.G328Rfs*34,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1229338826	6.928e-07	6.841e-07	1.376e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.676e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	985.94	39	chr19	8498827	.	G	GC	985.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.950e-01;DP=1188;ExcessHet=0.0000;FS=0.889;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.08;ReadPosRankSum=0.588;SOR=0.582	GT:AD:DP:GQ:PL	0/1:34,36:70:99:1000,0,957	20	0	1	0
chr19	8888803	8888803	G	A	exonic	MUC16	.	stopgain	MUC16:NM_024690:exon56:c.C40696T:p.Q13566X,	.	.	387	1065	65	0	5	70	0.0296128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.702	14.99	1.01	0.786	-0.955	7.596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs749709179	2.751e-06	0.0003	1.368e-06	4.147e-06	2.346e-05	6.4e-07	4.3e-07	3.89e-06	1.46e-06	0	0	0	0	1.892e-05	0	9.032e-07	0	2.346e-05	0.0003	0.0078	0.0003	0.0003	0.0007	0.0003	0.0002	0.0003	0.0002	0.0004	0	0.0002	0.0003	0.0006	0.0003	0	0.0003	0.0015	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.853	0.84922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382006	0.88838	D	0.310949	0.88697	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.510432	0.97656	37	0.99651539778950882	0.77317	0.04167	0.09661	N	AEFDBI	0.050545	0.08845	N	0.108967690324694	0.46882	2.921777	-0.235756191989301	0.30265	1.702583	7.40119793528929E-5	0.04552	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.01	0.19044	-1.404000	0.02601	.	.	-0.183000	0.09960	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.0:0.5377:0.4623	7.596	0.27215	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	9208.93	410	chr19	8888803	.	G	A	9208.93	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-1.183e+00;DP=10099;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2685;MLEAC=9;MLEAF=0.214;MQ=57.32;MQRankSum=-7.194e+00;QD=2.03;ReadPosRankSum=1.87;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:501,54:555:9:.:.:9,0,19374	12	0	9	0
chr19	8888822	8888826	GCTTT	0	exonic	MUC16	.	.	.	.	.	412	698	370	1	41	413	0.210407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	23587.18	358	chr19	8888822	.	GCTTT	G,*,TCTTT	23587.18	.	AC=17,3,1;AF=0.405,0.071,0.024;AN=42;BaseQRankSum=1.15;DP=9724;ExcessHet=54.0936;FS=9.916;InbreedingCoeff=-1.0000;MLEAC=17,3,1;MLEAF=0.405,0.071,0.024;MQ=57.12;MQRankSum=-1.109e+01;QD=2.75;ReadPosRankSum=0.578;SOR=1.311	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:277,97,53,2:442:99:.:.:3522,0,11746,1777,9877,13898,4440,11821,13815,17657	0	0	17	0
chr19	8888826	8888826	T	0	exonic	MUC16	.	.	.	.	.	415	770	176	0	161	337	0.102564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	1541.22	352	chr19	8888826	.	T	*,TCCGA	1541.22	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=2.89;DP=8436;ExcessHet=43.6797;FS=10.909;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.452,0.024;MQ=57.52;MQRankSum=-9.389e+00;QD=0.19;ReadPosRankSum=0.933;SOR=1.413	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:286,90,53:429:99:0|1:8888826_T_*:2940,0,11728,1575,9805,13425:8888826	1	0	19	0
chr19	8900017	8900017	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38968C:p.D12990H,	.	.	419	985	117	1	0	119	0.0569651	.	.	3206446	MUC16-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.289	B	0.104	B	.	.	.	.	0.85	L	4.62	T	-0.937	T	0.005	T	0.187	-0.708	0.946	-2.32	-0.921	-3.230	2.997	0.059	0.000862686160426	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796074138	0	8.209e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	5.687e-05	0.0074	4.13e-05	7.351e-05	7.994e-05	2.742e-05	2.063e-05	2.119e-05	1.087e-05	7.994e-05	0	0	0	0	0.0003	0	3.068e-05	0	0	0.039	0.42487	D	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.62	0.01834	T	0.49	0.02993	N	0.092	0.07125	-0.9370	0.43088	T	0.005	0.01506	T	8	0.0807575	0.13143	T	8.63E-4	0.00755	T	0.059	0.16972	0.123	0.02942	0.0401082797425	0.02173	0.1591635644427814	0.15837	.	.	0.225260436535	0.01636	T	.	.	.	-0.333606	0.05843	T	-0.716979	0.04943	T	0.120735882775226	0.14502	T	0.155884	0.01367	T	.	.	.	.	.	.	.	.	-5.876	0.45230	T	.	.	0.121	0.25199	B	.	.	-0.654509	0.01430	0.085	0.20142462625377641	0.00711	0.00266	0.01451	N	AEFBI	0.033829	0.04085	N	-1.20853826975404	0.04874	0.2209404	-1.39093098480509	0.03348	0.1559778	2.77626904626202E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-4.258000	0.00301	.	.	-2.147000	0.00375	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3314:0.4146:0.254:0.0	2.997	0.05636	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3095	2350.15	47	chr19	8900017	.	C	G	2350.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.351;DP=3884;ExcessHet=11.8493;FS=0.993;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=59.12;MQRankSum=-1.468e+01;QD=0.70;ReadPosRankSum=1.95;SOR=1.002	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:258,27:285:99:0|1:8900009_C_T:357,0,10738:8900009	8	0	13	0
chr19	8980661	8980661	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon1:c.G478A:p.E160K,	.	.	425	1081	14	2	0	18	0.00825688	.	.	2811540	not_provided|MUC16-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.938	P	0.261	B	.	.	.	.	0	N	4.2	T	-0.904	T	0.005	T	0.2	0.210	5.134	0.204	0.109	-0.255	4.622	0.044	0.00116858358726	0.0002	0.000998403	0.0006	0	0.0003	0	0	0.0006	0.0022	0.0021	0.0005757	89	154602	rs199922056	0.0004	0.0004	0.0003	0.0005	0.0028	0.0004	0.0004	0.0018	0.0017	5.974e-05	0.0002	0.0001	0	3.745e-05	0.0028	0.0003	0.0006	0.0021	0.0004	0.0004	0.0004	0.0003	0.0035	0.0003	0.0003	0.0022	0.0018	0	0	0.0002	0	0	9.418e-05	0.0034	0.0005	0.0014	0.0035	0.0	0.91255	D	0.043	0.49942	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	4.2	0.02689	T	-0.96	0.25551	N	0.169	0.17966	-0.9043	0.47527	T	0.005	0.01542	T	8	0.00674057	0.00153	T	0.001169	0.01484	T	0.044	0.11924	.	.	0.0954503805726	0.09146	0.030180406335303812	0.02967	.	.	0.244207590818	0.03182	T	.	.	.	-0.605182	0.00135	T	-0.648246	0.09077	T	0.0294080645876312	0.01900	T	0.349965	0.07784	T	.	.	.	.	.	.	.	.	-3.992	0.23683	T	.	.	0.167	0.36752	B	.	.	0.808876	0.11799	8.369	0.68935291730639947	0.08813	0.00985	0.03747	N	AEFBI	0.025679	0.01801	N	-0.825848555266625	0.12652	0.6180644	-1.00220392878279	0.09737	0.4861658	9.33931258287073E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.38	0.204	0.14476	-0.559000	0.06062	.	.	0.333000	0.19617	0.000000	0.06391	0.000000	0.08366	0.146000	0.20164	0.3722:0.6278:0.0:0.0	4.622	0.11842	917	0.20147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2338.98	41	chr19	8980661	.	C	T	2338.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.315e+00;DP=972;ExcessHet=0.0000;FS=1.783;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.31;ReadPosRankSum=-1.700e-01;SOR=0.629	GT:AD:DP:GQ:PL	0/1:98,92:190:99:2353,0,2849	20	0	1	0
chr19	10089677	10089677	G	C	exonic	SHFL	.	nonsynonymous SNV	SHFL:NM_001308277:exon4:c.G216C:p.K72N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.447	B	0.21	B	0.603	N	0.969	N	0.345	N	.	.	-1.020	T	0.048	T	0.129	0.766	8.053	-3.02	-0.358	-0.269	8.877	0.060	0.00835452894133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.23e-05	0.0007	0.0001	8.388e-05	0.0001	7.937e-05	7.411e-05	9.867e-05	9.266e-05	3.012e-05	0	3.881e-05	2.554e-05	0	0	0.0001	5.025e-05	0	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.096	0.31088	T	0.144	0.92824	T	.	.	.	.	.	.	0.602986	0.10940	N	0.778374	0.969116	0.25769	N	.	.	.	.	.	.	-2.3	0.51157	N	0.451	0.54409	-1.0203	0.23616	T	0.048	0.20355	T	9	0.11713013	0.22113	T	0.008355	0.22105	T	0.060	0.17295	0.149	0.05238	0.257342827899	0.25358	0.7671544330350812	0.76664	1.27764482569	0.82445	.	.	.	.	.	.	-0.228678	0.16824	T	-0.566257	0.15794	T	0.318100303411484	0.25744	T	0.765923	0.40183	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.583	0.81635	P	.;.;.;.;.	.;.;.;.;.	0.889740	0.12634	9.157	0.94812326393072077	0.25574	0.63549	0.32124	D	AEFDBCI	0.495824	0.53103	N	-0.944719638248053	0.09811	0.4660345	-0.912159081172477	0.11806	0.6037553	0.999561478255562	0.40425	0.706298	0.61202	0	0.697927	0.68747	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.07	-3.02	0.05116	-0.259000	0.08742	0.264000	0.16579	-0.855000	0.02678	0.979000	0.35152	0.967000	0.29559	0.342000	0.25479	0.5074:0.0:0.4926:0.0	8.877	0.34512	883	0.28872	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1429	207.46	82	chr19	10089677	.	G	C	207.46	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-3.463e+00;DP=2074;ExcessHet=1.7912;FS=272.777;InbreedingCoeff=-0.1689;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=0.37;ReadPosRankSum=0.605;SOR=12.318	GT:AD:DP:GQ:PL	0/1:70,36:106:94:94,0,1359	15	0	6	0
chr19	11447529	11447531	GAG	-	exonic	PRKCSH	.	nonframeshift deletion	PRKCSH:NM_001289102:exon10:c.940_942del:p.E325del	Polycystic liver disease 1, Autosomal dominant	.	0	61	87	26	52	191	0.532567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	61194.9	119	chr19	11447525	.	AGAGGAG	A,AGAG	61194.9	.	AC=5,21;AF=0.119,0.500;AN=42;BaseQRankSum=-4.730e-01;DP=3206;ExcessHet=4.5793;FS=1.171;InbreedingCoeff=-0.2115;MLEAC=5,21;MLEAF=0.119,0.500;MQ=60.00;MQRankSum=0.00;QD=26.39;ReadPosRankSum=0.563;SOR=0.619	GT:AD:DP:GQ:PL	1/2:0,67,58:125:99:5109,2348,2296,2752,0,2571	2	0	2	0
chr19	11506264	11506264	C	T	exonic	ECSIT	.	nonsynonymous SNV	ECSIT:NM_001142465:exon6:c.G574A:p.G192R	.	.	411	1108	3	0	0	3	0.00135196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.043	B	0.035	B	0.002	N	1.000	N	0.49	N	1.51	T	-1.036	T	0.005	T	0.105	1.669	11.54	3.28	0.648	0.375	7.627	0.017	.	.	0.0111821	0.0057	0.0003	0.0079	0.0558	0.0027	0.0006	0.0035	0.0024	0.0050387	779	154602	rs2302971	0.0026	0.0026	0.0025	0.0026	0.0653	0.0025	0.0025	0.0632	0.0623	5.974e-05	0.0070	7.656e-05	0.0653	0.0024	0.0009	0.0003	0.0035	0.0024	0.0031	0.0032	0.0025	0.0037	0.0595	0.0029	0.0028	0.0540	0.0519	7.214e-05	0	0.0061	0	0.0595	0.0015	0	0.0005	0.0014	0.0046	0.149	0.24758	T	0.244	0.29346	T	0.003	0.11197	B	0.002	0.06944	B	0.001780	0.38052	N	0.280522	1	0.20667	N	1.04	0.26193	L	1.5	0.31205	T	-0.57	0.17210	N	0.084	0.06059	-1.0355	0.18700	T	0.005	0.01761	T	10	0.0024538934	0.00037	T	.	.	.	0.017	0.02790	0.084	0.00795	0.0482279557977	0.04254	0.32028917079175706	0.31941	0.561034986684	0.52614	0.433236062527	0.29651	T	0.043291	0.26455	T	-0.64728	0.00075	T	-0.649096	0.09018	T	0.0112842093174963	0.00167	T	0.533547	0.19007	T	0.03981509	0.05566	0.10961885	0.26422	0.03981509	0.05566	0.10961885	0.26421	-4.076	0.24935	T	.	.	0.122	0.25462	B	.;.	.;.	1.173982	0.15638	12.00	0.84522951852848949	0.15341	0.03065	0.07972	N	ALL	0.088628	0.17966	N	-1.06238956282191	0.07346	0.340974	-1.02423082859738	0.09253	0.4593129	0.999999560618637	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.4	3.28	0.36691	0.520000	0.22586	.	.	-0.264000	0.06851	0.000000	0.06391	0.000000	0.08366	0.041000	0.14368	0.0:0.8011:0.0:0.1989	7.627	0.27383	759	0.50631	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	880.98	34	chr19	11506264	.	C	T	880.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.760e-01;DP=760;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.24;ReadPosRankSum=0.496;SOR=0.787	GT:AD:DP:GQ:PL	0/1:34,38:72:99:895,0,812	20	0	1	0
chr19	11547824	11547824	G	A	exonic	CNN1	.	nonsynonymous SNV	CNN1:NM_001299:exon5:c.G418A:p.V140M	.	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.099	B	0.009	B	0.641	N	0.691	D	-0.69	N	0.06	T	-0.964	T	0.063	T	0.078	2.331	13.75	3.7	2.214	1.207	7.434	0.063	0.0182162956101	0.0012	0.00119808	0.0006	0.0029	0.0005	0	0	0.0005	0	0.0001	0.0005045	78	154602	rs144115537	0.0003	0.0003	0.0003	0.0003	0.0023	0.0003	0.0003	0.0019	0.0017	0.0023	0.0008	0.0037	2.52e-05	0	0.0010	0.0002	0.0010	6.957e-05	0.0011	0.0011	0.0013	0.0009	0.0028	0.0010	0.0009	0.0024	0.0022	0.0028	0	0.0022	0.0023	0.0002	0	0	0.0001	0.0009	0	0.031	0.45039	D	0.058	0.46182	T	0.099	0.25639	B	0.009	0.14300	B	0.640758	0.10601	N	0.842863	0.69126	0.33329	D	0.895	0.22405	L	0.06	0.61798	T	-1.32	0.35194	N	0.085	0.06990	-0.9637	0.38468	T	0.063	0.26101	T	10	0.008185297	0.00186	T	0.018216	0.40210	T	0.063	0.18251	.	.	0.313793572803	0.30980	0.40574108367520156	0.40490	0.546196756565	0.51621	0.710522651672	0.68669	T	0.221504	0.58509	T	-0.509148	0.00508	T	-0.50781	0.21541	T	0.00376982432899271	0.00040	T	0.924208	0.72903	D	0.089021	0.20785	0.09643904	0.22915	0.089021	0.20785	0.09643904	0.22915	-6.94	0.53595	T	.	.	0.184	0.40794	B	.;.;.;.	.;.;.;.	3.899481	0.56795	23.8	0.99571362121217477	0.72440	0.41538	0.26679	N	AEFBI	0.212386	0.33808	N	-0.394954581765796	0.25647	1.393864	-0.199071542677769	0.31572	1.787955	0.0283113514190697	0.13824	0.675385	0.55134	0	0.588066	0.40923	0	0.693117	0.63056	0	0.562822	0.20929	0	.	.	4.76	3.7	0.41607	1.287000	0.32889	.	.	0.660000	0.55035	0.759000	0.29231	1.000000	0.68203	0.821000	0.38685	0.2614:0.0:0.7386:0.0	7.434	0.26317	807	0.43470	.;.;.;.	.	.	.	.	.	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	0.02381	1000.98	33	chr19	11547824	.	G	A	1000.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.22;DP=770;ExcessHet=0.0000;FS=1.893;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=0.594;SOR=0.968	GT:AD:DP:GQ:PL	0/1:36,39:75:99:1015,0,845	20	0	1	0
chr19	12430730	12430730	A	0	exonic	ZNF443	.	.	.	.	.	412	412	423	155	120	853	0.470777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	57518.43	140	chr19	12430730	.	A	C,*	57518.43	.	AC=18,3;AF=0.429,0.071;AN=42;BaseQRankSum=-2.194e+00;DP=3284;ExcessHet=2.0051;FS=0.000;InbreedingCoeff=-0.0476;MLEAC=18,3;MLEAF=0.429,0.071;MQ=58.31;MQRankSum=-5.036e+00;QD=22.67;ReadPosRankSum=-5.040e-01;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,82,0:199:99:0|1:12430718_C_A:3091,0,4644,3443,4891,8334:12430718	5	4	10	0
chr19	12652193	12652193	G	A	exonic	MAN2B1	.	nonsynonymous SNV	MAN2B1:NM_000528:exon16:c.C2006T:p.P669L	Mannosidosis, alpha-, types I and II, Autosomal recessive	.	0	1516	6	0	0	6	0.00197498	.	.	215562	not_provided|not_specified|Deficiency_of_alpha-mannosidase	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009561,MedGen:C0024748,OMIM:248500,Orphanet:61	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.08	T	0.991	D	0.636	P	0.001	D	1.000	D	1.67	L	-1.31	T	-0.361	T	0.209	T	0.52	4.113	21.2	5.65	2.656	8.265	17.213	0.594	.	0.0006	0.014976	0.0077	0.0003	0.0425	0.0460	0.0009	0.0002	0.0055	0.0007	0.0074191	1147	154602	rs75029862	0.0026	0.0026	0.0027	0.0024	0.0407	0.0025	0.0025	0.0392	0.0385	0.0003	0.0407	0.0006	0.0367	0.0008	0.0009	0.0001	0.0034	0.0010	0.0051	0.0051	0.0044	0.0058	0.0406	0.0048	0.0047	0.0361	0.0343	0.0007	0	0.0318	0.0009	0.0406	0.0007	0	0.0002	0.0076	0.0023	0.139	0.25768	T	0.167	0.30828	T	0.991	0.64070	D	0.617	0.51308	P	0.000825	0.41547	D	0.000000	1	0.81001	D	2.68	0.78455	M	-1.31	0.79666	T	-5.43	0.85323	D	0.677	0.68429	-0.3610	0.73234	T	0.209	0.56906	T	10	0.0075194538	0.00171	T	.	.	.	0.594	0.83857	.	.	0.892921864852	0.89186	0.6772282284283011	0.67661	0.579947014083	0.53851	0.351851463318	0.18194	T	0.62605	0.88347	D	-0.239098	0.15463	T	-0.0855242	0.64497	T	0.0324108664321326	0.02374	T	0.80372	0.45098	T	0.26678705	0.49749	0.42118236	0.66058	0.4030018	0.60941	0.42045087	0.66008	-6.636	0.51327	T	0.4671350749295632	0.54826	0.160	0.47524	B	.;.	.;.	4.462315	0.69459	25.4	0.98688335585902687	0.44723	0.99536	0.97188	D	AEFBI	0.892077	0.82866	D	0.449457006301833	0.64171	4.665896	0.404972605745628	0.61874	4.393775	0.999999998625453	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	8.866000	0.91909	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.445000	0.27784	0.0:0.0:1.0:0.0	17.213	0.86817	804	0.43891	Glycosyl hydrolase family 38, 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	0.02381	1245.98	43	chr19	12652193	.	G	A	1245.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=778;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.39;ReadPosRankSum=-3.000e-01;SOR=0.716	GT:AD:DP:GQ:PL	0/1:32,44:76:99:1260,0,828	20	0	1	0
chr19	12767435	12767435	C	G	exonic	HOOK2	.	nonsynonymous SNV	HOOK2:NM_001100176:exon14:c.G1333C:p.V445L	.	.	415	1103	4	0	0	4	0.00180995	.	.	716179	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.66	T	0.001	B	0.005	B	0.062	N	1.000	N	-0.14	N	2.33	T	-0.986	T	0.007	T	0.055	-0.876	0.489	1.02	0.276	0.410	1.214	0.032	.	.	0.00778754	0.0056	0.0006	0.0288	0.0257	0.0105	0.0005	0.0045	0.0005	0.0050581	782	154602	rs35979347	0.0022	0.0022	0.0024	0.0020	0.0270	0.0021	0.0021	0.0256	0.0251	0.0003	0.0261	3.826e-05	0.0270	0.0103	0.0009	0.0001	0.0027	0.0008	0.0041	0.0041	0.0034	0.0048	0.0296	0.0038	0.0037	0.0258	0.0243	0.0004	0	0.0201	0	0.0296	0.0098	0	0.0003	0.0038	0.0031	0.65	0.04848	T	0.719	0.05363	T	0.001	0.07471	B	0.005	0.11217	B	0.062087	0.22122	N	0.458585	0.999997	0.08975	N	-0.11	0.04642	N	2.33	0.16492	T	-0.51	0.15986	N	0.064	0.03613	-0.9859	0.33615	T	0.007	0.02399	T	10	0.0027045012	0.00042	T	.	.	.	0.032	0.07718	0.557	0.67547	0.154104182512	0.14974	0.12179770774521262	0.12106	0.249693643877	0.27551	0.395673513412	0.24466	T	0.003783	0.03191	T	-0.708593	0.00032	T	-0.769672	0.02779	T	0.000122253535686745	0.00001	T	0.714229	0.32652	T	0.019762017	0.00514	0.025860013	0.00648	0.019762017	0.00513	0.025860013	0.00647	-3.544	0.17582	T	.	.	0.083	0.10739	B	.;.	.;.	1.091560	0.14752	11.30	0.35815525165187739	0.02269	0.16554	0.19443	N	AEFBCI	0.093261	0.18872	N	-1.20250760882087	0.04963	0.2251789	-1.12991582333129	0.07134	0.3458597	0.717697511676211	0.22894	0.718356	0.82227	0	0.633656	0.55848	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	5.51	1.02	0.19102	0.535000	0.22822	.	.	-0.799000	0.03183	0.251000	0.24859	0.950000	0.28999	0.021000	0.11733	0.1368:0.4043:0.1853:0.2736	1.214	0.01794	624	0.65661	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	497.98	34	chr19	12767435	.	C	G	497.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.029;DP=757;ExcessHet=0.0000;FS=2.350;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.22;ReadPosRankSum=0.141;SOR=0.399	GT:AD:DP:GQ:PL	0/1:32,22:54:99:512,0,808	20	0	1	0
chr19	13207871	13207876	CTGCTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6963del:p.Q2324_Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,25,14,0,0,0,0:39:99:.:.:1588,551,497,1016,0,956,1581,563,1010,1581,1581,563,1010,1581,1581,1581,563,1010,1581,1581,1581,1581,563,1010,1581,1581,1581,1581	2	3	6	0
chr19	13207874	13207876	CTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6960del:p.Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,25,14,0,0,0,0:39:99:.:.:1588,551,497,1016,0,956,1581,563,1010,1581,1581,563,1010,1581,1581,1581,563,1010,1581,1581,1581,1581,563,1010,1581,1581,1581,1581	2	3	6	0
chr19	13207876	13207876	-	CTG	exonic	CACNA1A	.	nonframeshift insertion	CACNA1A:NM_001127222:exon47:c.6957_6958insCAG:p.Q2325_A2326insQ,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,25,14,0,0,0,0:39:99:.:.:1588,551,497,1016,0,956,1581,563,1010,1581,1581,563,1010,1581,1581,1581,563,1010,1581,1581,1581,1581,563,1010,1581,1581,1581,1581	2	3	6	0
chr19	13207868	13207876	CTGCTGCTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6966del:p.Q2323_Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,25,14,0,0,0,0:39:99:.:.:1588,551,497,1016,0,956,1581,563,1010,1581,1581,563,1010,1581,1581,1581,563,1010,1581,1581,1581,1581,563,1010,1581,1581,1581,1581	2	3	6	0
chr19	13207862	13207876	CTGCTGCTGCTGCTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6972del:p.Q2321_Q2325del,	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,25,14,0,0,0,0:39:99:.:.:1588,551,497,1016,0,956,1581,563,1010,1581,1581,563,1010,1581,1581,1581,563,1010,1581,1581,1581,1581,563,1010,1581,1581,1581,1581	2	3	6	0
chr19	13261453	13261453	C	G	exonic	CACNA1A	.	nonsynonymous SNV	CACNA1A:NM_001127221:exon26:c.G4250C:p.C1417S	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	3.195	M	-4.35	D	1.104	D	0.955	D	0.869	3.142	16.51	4.28	1.942	7.788	15.505	0.919	0.720049166767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	3.6	0.93737	H	-4.35	0.97292	D	-9.9	0.98740	D	0.88	0.93370	1.104	0.99792	D	0.955	0.98552	D	10	0.9412385	0.93449	D	0.720049	0.97734	D	0.919	0.97928	0.674	0.81200	0.941752061762	0.94114	0.997802321923104	0.99779	2.44890012304	0.97340	0.720135450363	0.70066	T	0.34092	0.72556	T	0.529847	0.95166	D	0.523312	0.95094	D	0.999120771884918	0.96259	D	0.955704	0.85148	D	0.8946401	0.90909	0.8295416	0.90155	0.8946401	0.90910	0.8295416	0.90156	-12.57	0.87516	D	0.7550199673618676	0.83701	1.000	0.99795	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.176184	0.86775	29.0	0.9877498318136364	0.46033	0.63432	0.32088	D	AEFGBHCI	0.974892	0.99586	D	0.786534102046003	0.85255	8.522144	0.671957541614113	0.80254	7.258447	1.0	0.98316	0.706298	0.61202	0	0.166054	0.03914	2	0.709663	0.75317	0	0.75052	0.99595	0	.	.	4.28	4.28	0.50183	7.876000	0.85623	7.597000	0.61435	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.622000	0.31948	0.0:1.0:0.0:0.0	15.505	0.75468	867	0.32089	Ion transport domain;Ion transport domain;Ion transport domain;.;.;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;.;Ion transport domain;Ion transport domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1071	259.27	33	chr19	13261453	.	C	G,T	259.27	.	AC=1,2;AF=0.036,0.071;AN=28;BaseQRankSum=-1.205e+00;DP=1059;ExcessHet=0.3300;FS=141.148;InbreedingCoeff=-0.1849;MLEAC=1,3;MLEAF=0.036,0.107;MQ=60.00;MQRankSum=0.00;QD=1.73;ReadPosRankSum=0.369;SOR=9.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:43,11,9:63:86:.:.:86,0,1370,104,699,787	11	0	1	7
chr19	13261453	13261453	C	T	exonic	CACNA1A	.	nonsynonymous SNV	CACNA1A:NM_001127221:exon26:c.G4250A:p.C1417Y	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	3.45	M	-4.36	D	1.103	D	0.959	D	0.882	2.999	16.00	4.28	1.942	7.788	15.505	0.900	0.662448640831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	3.945	0.96414	H	-4.36	0.97317	D	-10.89	0.99244	D	0.9	0.91736	1.103	0.99760	D	0.959	0.98667	D	10	0.92822963	0.92167	D	0.662449	0.97167	D	0.900	0.97210	0.597	0.72739	0.946521584196	0.94595	0.9989162058167032	0.99890	3.10580878237	0.99392	0.820091307163	0.85041	D	0.425318	0.77547	T	0.548974	0.95690	D	0.550787	0.95627	D	0.999760091304779	0.98882	D	0.970803	0.90930	D	0.9488749	0.96151	0.8905547	0.94306	0.9488749	0.96151	0.8905547	0.94306	-12.59	0.87605	D	0.7545057421757159	0.83651	1.000	0.99795	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.250013	0.88146	29.5	0.98413605309687413	0.41201	0.57634	0.30428	D	AEFGBHCI	0.971659	0.99367	D	0.815197305321873	0.87046	9.085217	0.690351591084019	0.81645	7.575577	1.0	0.98316	0.706298	0.61202	0	0.166054	0.03914	2	0.709663	0.75317	0	0.75052	0.99595	0	.	.	4.28	4.28	0.50183	7.876000	0.85623	7.597000	0.61435	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.622000	0.31948	0.0:1.0:0.0:0.0	15.505	0.75468	867	0.32089	Ion transport domain;Ion transport domain;Ion transport domain;.;.;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;.;Ion transport domain;Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1071	259.27	33	chr19	13261453	.	C	G,T	259.27	.	AC=1,2;AF=0.036,0.071;AN=28;BaseQRankSum=-1.205e+00;DP=1059;ExcessHet=0.3300;FS=141.148;InbreedingCoeff=-0.1849;MLEAC=1,3;MLEAF=0.036,0.107;MQ=60.00;MQRankSum=0.00;QD=1.73;ReadPosRankSum=0.369;SOR=9.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:43,11,9:63:86:.:.:86,0,1370,104,699,787	11	0	1	7
chr19	13959894	13959894	-	GGTGGGCCCAGGGCAGGCAG	exonic	DCAF15	.	frameshift insertion	DCAF15:NM_138353:exon9:c.1439_1440insGGTGGGCCCAGGGCAGGCAG:p.C482Gfs*59,	.	.	429	927	68	95	3	261	0.122159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0165	0.0004	0	0	3.429e-05	0	0	0.0002305	6	26028	.	0.0004	0.0004	0.0005	0.0003	0.0154	0.0004	0.0004	0.0142	0.0138	0.0154	0.0009	0	0	0	0.0008	1.26e-05	0.0008	9.603e-05	0.0040	0.0039	0.0038	0.0042	0.0139	0.0037	0.0036	0.0129	0.0125	0.0139	0	0.0015	0	0	0	0	1.518e-05	0.0035	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	8404.5	34	chr19	13959894	.	A	AGGTGGGCCCAGGGCGGGCAG,AGGTGGGCCCAGGGCAGGCAG	8404.5	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=0.536;DP=1417;ExcessHet=0.3152;FS=5.121;InbreedingCoeff=0.1923;MLEAC=15,1;MLEAF=0.357,0.024;MQ=60.00;MQRankSum=0.00;QD=14.10;ReadPosRankSum=-9.810e-01;SOR=1.052	GT:AD:DP:GQ:PL	0/1:38,9,0:47:99:256,0,1576,378,1603,1981	9	4	7	0
chr19	14151447	14151447	A	G	exonic	ADGRL1	.	nonsynonymous SNV	ADGRL1:NM_014921:exon23:c.T3836C:p.I1279T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.25	M	-1.62	D	0.457	D	0.680	D	0.711	2.959	15.86	4.48	1.661	8.874	11.741	0.837	0.481499289193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999987	0.54805	D	.	.	.	-1.62	0.82347	D	-3.8	0.71762	D	0.661	0.74280	0.457	0.89936	D	0.680	0.88933	D	10	0.8749888	0.86784	D	0.481499	0.94849	D	0.837	0.94877	0.732	0.86547	0.361733483669	0.35779	0.808052188254558	0.80760	1.25605872944	0.81899	0.955081939697	0.99846	D	0.57508	0.85994	D	0.255078	0.79073	D	0.128625	0.78802	D	0.99748033285141	0.91668	D	0.995275	0.98387	D	0.74396384	0.80520	0.5325961	0.72992	0.74396384	0.80521	0.5325961	0.72993	-12.808	0.88556	D	.	.	0.999	0.98907	P	.;.	.;.	4.190881	0.63158	24.5	0.99741405065226962	0.83555	0.99649	0.98332	D	AEFDBI	0.910691	0.86894	D	0.631570355920296	0.75182	6.260801	0.555554583534728	0.71786	5.708017	0.999788454918342	0.43007	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.699875	0.68795	0	.	.	4.48	4.48	0.53973	8.941000	0.92488	.	.	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	11.741	0.51059	900	0.24599	GPCR, family 2, latrophilin, C-terminal;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	78.64	35	chr19	14151447	.	A	G	78.64	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.976e+00;DP=1048;ExcessHet=0.1072;FS=138.726;InbreedingCoeff=-0.0471;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.30;ReadPosRankSum=3.07;SOR=8.813	GT:AD:DP:GQ:PL	0/1:111,29:140:9:9,0,2470	19	0	2	0
chr19	15174177	15174177	G	T	exonic	NOTCH3	.	nonsynonymous SNV	NOTCH3:NM_000435:exon25:c.C4627A:p.L1543M,	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, Autosomal dominant;Lateral meningocele syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	793752	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.995	D	.	.	0.814	N	1.97	M	-2.29	D	0.052	D	0.705	D	0.385	2.751	15.16	2.69	0.458	0.304	7.447	0.433	0.132413347977	.	.	2.781e-05	0	0	0.0001	0	3.386e-05	0	0	1.94e-05	3	154602	rs111838442	4.805e-06	4.788e-06	4.099e-06	5.517e-06	2.52e-05	2e-06	1.29e-06	1.94e-06	1.28e-06	0	0	0	2.52e-05	0	0	5.398e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.39575	D	0.06	0.45744	T	1.0	0.90584	D	0.995	0.83170	D	.	.	.	.	0.813986	0.28966	N	1.99	0.53851	M	-2.29	0.87591	D	-0.72	0.20358	N	0.278	0.31478	0.052	0.83285	D	0.705	0.89845	D	9	0.3739462	0.53688	T	0.132413	0.81473	D	0.433	0.73879	0.594	0.72371	0.872782803392	0.87154	0.837021198001228	0.83662	1.49514861928	0.86947	0.776437759399	0.78391	T	0.297819	0.67040	T	-0.0782476	0.39999	T	-0.177716	0.56734	T	0.258824776482055	0.23263	T	0.756624	0.37993	T	0.5374752	0.69255	0.35681304	0.61186	0.5374752	0.69256	0.35681304	0.61186	-9.626	0.71640	D	0.4814217321149822	0.56001	0.532	0.65990	A	.	.	3.792969	0.54605	23.5	0.99436715467927383	0.64571	0.33495	0.24842	N	AEFDGBCI	0.254654	0.37393	N	0.12356964505523	0.47564	2.980369	-0.00616900600009776	0.39435	2.338197	9.17004297123409E-4	0.08000	0.631981	0.41245	0	0.615948	0.52940	0	0.779548	0.98927	0	0.638833	0.57524	0	.	.	4.83	2.69	0.30923	0.220000	0.17445	.	.	0.617000	0.49538	0.021000	0.19753	0.987000	0.30940	0.997000	0.79791	0.2739:0.0:0.7261:0.0	7.447	0.26386	940	0.13648	Notch, NOD domain|Notch, NOD domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1815.98	33	chr19	15174177	.	G	T	1815.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.544e+00;DP=854;ExcessHet=0.0000;FS=5.244;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=-1.179e+00;SOR=0.608	GT:AD:DP:GQ:PL	0/1:60,70:132:99:1830,0,1673	20	0	1	0
chr19	16945643	16945643	C	T	exonic	CPAMD8	.	nonsynonymous SNV	CPAMD8:NM_015692:exon22:c.G2699A:p.R900Q,	Anterior segement dysgenesis 8, Autosomal recessive	.	428	1093	1	0	0	1	0.000457247	.	.	2205276	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.63	T	0.005	B	0.001	B	0.088	U	0.967	N	0	N	.	.	-1.051	T	0.041	T	0.095	-1.101	0.142	-0.481	0.040	1.094	3.934	0.014	0.00297089660236	.	.	4.97e-05	0	0	0	0	5.996e-05	0.0011	6.058e-05	4.53e-05	7	154602	rs749114855	2.942e-05	2.941e-05	2.723e-05	3.163e-05	0.0003	2.216e-05	1.97e-05	6.092e-05	2.521e-05	0	6.708e-05	0	0	0	0.0003	2.698e-05	6.623e-05	4.638e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.412e-05	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	0.68	0.06109	T	.	.	.	.	.	.	0.087751	0.02422	U	2.082430	1	0.08975	N	.	.	.	2.58	0.13434	T	.	.	.	0.139	0.13769	-1.0510	0.14119	T	0.041	0.17742	T	9	0.06308922	0.08166	T	0.002971	0.06339	T	.	.	.	.	0.173771789658	0.16945	.	.	0.164457917776	0.18555	0.266082197428	0.05637	T	.	.	.	-0.478735	0.00752	T	-0.739543	0.03909	T	0.043744008988142	0.04373	T	0.737926	0.35508	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.458779	0.08286	5.031	0.67214954374209224	0.08288	0.08546	0.14460	N	AEFDBI	0.047006	0.07869	N	-1.10343352682407	0.06582	0.3033967	-1.04600442547717	0.08790	0.433947	0.092953805418989	0.16171	0.632932	0.41330	0	0.547309	0.14657	0	0.601832	0.32385	0	0.613276	0.41899	0	.	.	3.49	-0.481	0.11479	1.193000	0.31771	-0.859000	0.07148	-0.249000	0.07183	0.938000	0.32564	0.000000	0.08366	0.031000	0.13245	0.0:0.23:0.2044:0.5656	3.934	0.08794	970	0.06235	.	.	.	.	.	.	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	0.02381	1799.98	35	chr19	16945643	.	C	T	1799.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.21;DP=911;ExcessHet=0.0000;FS=5.942;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.84;ReadPosRankSum=0.284;SOR=0.473	GT:AD:DP:GQ:PL	0/1:78,74:152:99:1814,0,1853	20	0	1	0
chr19	17286684	17286684	G	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	4780.38	36	chr19	17286684	.	G	T,*	4780.38	.	AC=7,9;AF=0.175,0.225;AN=40;BaseQRankSum=-8.400e-01;DP=1119;ExcessHet=4.5793;FS=8.883;InbreedingCoeff=-0.2478;MLEAC=7,9;MLEAF=0.175,0.225;MQ=59.96;MQRankSum=0.00;QD=8.55;ReadPosRankSum=0.894;SOR=0.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,33,0:52:99:0|1:17286674_G_T:1070,0,696,1127,793,1920:17286674	6	0	6	1
chr19	17286688	17286692	GTGTT	0	exonic	ANKLE1	.	.	.	.	.	525	471	333	8	185	534	0.270333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	4769.66	36	chr19	17286688	.	GTGTT	*,G,TTGTT	4769.66	.	AC=11,10,1;AF=0.262,0.238,0.024;AN=42;BaseQRankSum=0.035;DP=1122;ExcessHet=8.0185;FS=14.083;InbreedingCoeff=-0.3339;MLEAC=11,10,1;MLEAF=0.262,0.238,0.024;MQ=60.00;MQRankSum=0.00;QD=7.34;ReadPosRankSum=0.733;SOR=0.210	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:16,0,31,0:47:99:.:.:1002,1051,1613,0,562,471,1051,1613,562,1613	3	1	6	0
chr19	17286690	17286692	GTT	0	exonic	ANKLE1	.	.	.	.	.	521	443	240	2	316	560	0.215929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	2703.98	18	chr19	17286690	.	GTT	*,G	2703.98	.	AC=19,8;AF=0.452,0.190;AN=42;BaseQRankSum=-1.400e-01;DP=1116;ExcessHet=3.1640;FS=12.346;InbreedingCoeff=-0.0816;MLEAC=19,7;MLEAF=0.452,0.167;MQ=59.97;MQRankSum=0.00;QD=4.53;ReadPosRankSum=0.510;SOR=0.209	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:8,31,4:43:99:.:.:1024,0,364,942,107,1156	2	3	9	0
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	2556.62	16	chr19	17286692	.	T	*,G	2556.62	.	AC=29,9;AF=0.690,0.214;AN=42;BaseQRankSum=-3.190e-01;DP=1109;ExcessHet=0.6776;FS=2.075;InbreedingCoeff=-0.1052;MLEAC=29,9;MLEAF=0.690,0.214;MQ=59.98;MQRankSum=0.00;QD=3.57;ReadPosRankSum=1.19;SOR=0.451	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,34,8:42:88:.:.:1821,225,88,1241,0,1197	0	10	3	0
chr19	18907090	18907090	C	G	exonic	COPE	.	nonsynonymous SNV	COPE:NM_001330469:exon4:c.G313C:p.D105H	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.999	D	0.989	D	0.000	D	1.000	D	2.51	M	0.9	T	-0.480	T	0.278	T	0.805	4.488	24.1	4.76	2.190	7.390	16.346	0.373	0.101258239315	0.0015	0.000599042	0.0013	0.0003	0.0016	0	0	0.0020	0	0.0002	0.0011449	177	154602	rs145639224	0.0019	0.0019	0.0020	0.0018	0.0024	0.0019	0.0018	0.0023	0.0023	0.0002	0.0009	3.836e-05	0	0.0001	0.0005	0.0024	0.0013	9.301e-05	0.0011	0.0011	0.0013	0.0009	0.0021	0.0010	0.0009	0.0018	0.0017	0.0004	0	0.0003	0	0	0.0002	0	0.0021	0.0014	0	0.004	0.65419	D	0.017	0.63918	D	0.999	0.77913	D	0.948	0.68536	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.02	0.86243	M	0.9	0.45248	T	-4.04	0.76254	D	0.808	0.80375	-0.4802	0.69359	T	0.278	0.65017	T	10	0.13496006	0.25684	T	0.101258	0.77403	D	0.373	0.69188	.	.	0.533025014498	0.52951	0.5977863943446438	0.59709	0.867762679245	0.69277	0.641280770302	0.58746	T	0.228351	0.59387	T	-0.186681	0.22745	T	-0.0449218	0.67369	D	0.183906346559525	0.19478	T	0.910709	0.68343	D	0.8940642	0.90859	0.7584676	0.85728	0.8940642	0.90860	0.7584676	0.85728	-5.532	0.42536	T	.	.	0.799	0.81416	P	.;.;.	.;.;.	4.893602	0.80374	27.3	0.99614553988024601	0.75052	0.97858	0.77657	D	AEFBCI	0.936266	0.93232	D	0.751590490653364	0.83008	7.906044	0.692989803668981	0.81847	7.623209	0.999999997956225	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.76	4.76	0.60189	7.516000	0.80673	7.524000	0.59808	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	0.0:1.0:0.0:0.0	16.346	0.82966	934	0.15400	.;.;.	.	.	.	.	.	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	0.02381	1398.98	33	chr19	18907090	.	C	G	1398.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.89;DP=819;ExcessHet=0.0000;FS=2.516;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=-8.300e-02;SOR=0.902	GT:AD:DP:GQ:PL	0/1:51,54:105:99:1413,0,1120	20	0	1	0
chr19	20950131	20950132	AT	-	exonic	ZNF85	.	stopgain	ZNF85:NM_001256173:exon3:c.1425_1426del:p.C476*	.	.	443	1072	7	0	0	7	0.0032543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0002	0.0001	0.0003	0	0	0.0002	0	0.0005	0.0001617	25	154602	rs745640042	0.0002	0.0002	0.0001	0.0002	0.0028	0.0001	0.0001	0.0017	0.0014	0.0001	8.951e-05	0.0002	0	0	0.0028	0.0001	0.0004	0.0009	0.0001	0.0001	7.812e-05	0.0001	0.0004	6.603e-05	5.396e-05	0.0001	7.965e-05	4.915e-05	0	0	0	0	0	0	0.0002	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2568.94	78	chr19	20950130	.	CAT	C	2568.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.243e+00;DP=982;ExcessHet=0.0000;FS=1.371;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.17;ReadPosRankSum=-5.600e-01;SOR=0.883	GT:AD:DP:GQ:PL	0/1:67,67:134:99:2583,0,2565	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1507.17	46	chr19	21383191	.	G	A	1507.17	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-1.034e+00;DP=1693;ExcessHet=1.1607;FS=5.964;InbreedingCoeff=-0.1507;MLEAC=5;MLEAF=0.125;MQ=59.03;MQRankSum=-1.079e+01;QD=1.91;ReadPosRankSum=-1.253e+00;SOR=1.349	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,13:159:99:0|1:21383168_A_G:106,0,6091:21383168	15	0	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1201.17	46	chr19	21383196	.	T	C	1201.17	.	AC=5;AF=0.125;AN=40;BaseQRankSum=1.03;DP=1683;ExcessHet=1.1607;FS=6.327;InbreedingCoeff=-0.1507;MLEAC=5;MLEAF=0.125;MQ=59.06;MQRankSum=-1.086e+01;QD=1.53;ReadPosRankSum=-1.685e+00;SOR=1.443	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,13:159:99:0|1:21383168_A_G:106,0,6091:21383168	15	0	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	651.89	46	chr19	21383203	.	A	AACTC	651.89	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.261;DP=1551;ExcessHet=0.6776;FS=5.243;InbreedingCoeff=-0.1054;MLEAC=4;MLEAF=0.095;MQ=59.17;MQRankSum=-1.177e+01;QD=1.02;ReadPosRankSum=-1.741e+00;SOR=1.440	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,12:152:82:0|1:21383168_A_G:82,0,5842:21383168	17	0	4	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	617.28	46	chr19	21383205	.	GTCAA	G	617.28	.	AC=4;AF=0.100;AN=40;BaseQRankSum=4.39;DP=1537;ExcessHet=0.6776;FS=5.203;InbreedingCoeff=-0.1204;MLEAC=4;MLEAF=0.100;MQ=59.20;MQRankSum=-1.168e+01;QD=0.97;ReadPosRankSum=-1.938e+00;SOR=1.383	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,11:153:34:0|1:21383168_A_G:34,0,5929:21383168	16	0	4	1
chr19	24126737	24126739	CTC	-	exonic	ZNF254	.	nonframeshift deletion	ZNF254:NM_001278678:exon2:c.482_484del:p.P162del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	.	0.0001	0	0	0.0006	0	7.59e-05	0	0.0001	8.41e-05	13	154602	rs751155008	8.897e-05	8.893e-05	8.307e-05	9.493e-05	0.0004	7.625e-05	7.171e-05	0.0002	0.0002	0.0001	6.729e-05	0	0.0004	0	0.0003	7.915e-05	9.941e-05	0.0001	5.924e-05	5.914e-05	2.573e-05	9.437e-05	0.0004	3.082e-05	2.214e-05	6.847e-05	3.058e-05	0.0001	0	0	0	0.0004	0	0	2.943e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2204.94	34	chr19	24126736	.	TCTC	T	2204.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.090e-01;DP=876;ExcessHet=0.0000;FS=5.795;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.17;ReadPosRankSum=-1.992e+00;SOR=1.099	GT:AD:DP:GQ:PL	0/1:58,57:115:99:2219,0,2263	20	0	1	0
chr19	30007545	30007545	A	G	exonic	URI1	.	nonsynonymous SNV	URI1:NM_001252641:exon7:c.A539G:p.D180G	.	.	426	1068	27	1	0	29	0.0133949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.002	B	0.002	B	0.507	N	0.997	N	0.55	N	2.87	T	-0.933	T	0.015	T	0.307	0.261	5.409	0.906	-0.183	0.833	3.248	0.036	0.00831901563935	0.0015	0.00179712	0.0028	0.0002	0.0003	0.0001	0	0.0027	0.0044	0.0087	0.0024773	383	154602	rs35808349	0.0016	0.0016	0.0013	0.0019	0.0088	0.0016	0.0015	0.0083	0.0081	0.0002	0.0005	0.0370	2.521e-05	0	0.0052	0.0003	0.0035	0.0088	0.0015	0.0015	0.0015	0.0015	0.0085	0.0013	0.0013	0.0064	0.0057	0.0001	0	0.0008	0.0366	0	0	0	0.0005	0.0024	0.0085	.	.	.	0.152	0.48080	T	0.001	0.07471	B	0.001	0.04355	B	0.506522	0.11890	N	0.815272	0.997412	0.22668	N	-0.11	0.04642	N	2.87	0.10386	T	.	.	.	0.127	0.17002	-0.9333	0.43650	T	0.015	0.05849	T	10	0.0029184222	0.00130	T	0.008319	0.22029	T	0.036	0.09122	.	.	0.19670166235	0.19296	0.1806272777807416	0.17981	.	.	0.3522772789	0.18257	T	0.018062	0.14625	T	-0.548704	0.00297	T	-0.55512	0.16839	T	0.000493352226057953	0.00004	T	0.662834	0.37546	T	0.03990745	0.05599	0.032111034	0.01896	0.03990745	0.05598	0.032111034	0.01896	-4.169	0.26954	T	.	.	0.077	0.06525	B	.;.;.	.;.;.	1.201174	0.15936	12.20	0.86444548530996701	0.16540	0.32829	0.24681	N	AEFGBI	0.208275	0.33437	N	-0.943709659497948	0.09835	0.4672198	-0.91507801104641	0.11738	0.5998493	0.436649672931487	0.20418	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.6	0.906	0.18444	1.155000	0.31311	1.839000	0.29174	0.749000	0.86810	0.650000	0.28172	0.406000	0.24735	0.272000	0.23818	0.53:0.2688:0.0723:0.129	3.248	0.06402	960	0.08626	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1017.98	34	chr19	30007545	.	A	G	1017.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.130e-01;DP=777;ExcessHet=0.0000;FS=0.786;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.19;ReadPosRankSum=-1.092e+00;SOR=0.569	GT:AD:DP:GQ:PL	0/1:44,47:91:99:1032,0,962	20	0	1	0
chr19	35311958	35311958	A	C	exonic	MAG	.	nonsynonymous SNV	MAG:NM_001199216:exon10:c.A1582C:p.N528H	Spastic paraplegia 75, autosomal recessive, Autosomal recessive	.	413	1108	1	0	0	1	0.00045106	.	.	694390	MAG-related_disorder|Hereditary_spastic_paraplegia_75	.|MONDO:MONDO:0014729,MedGen:C4225250,OMIM:616680,Orphanet:459056	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.14	T	0.989	D	0.854	P	0.000	D	0.997	N	0.55	N	-0.04	T	-0.956	T	0.129	T	0.145	3.818	19.39	3.01	0.825	1.888	6.383	0.114	.	0.0060	0.00658946	0.0018	0.0196	0.0008	0	0	0.0001	0	6.943e-05	0.0016106	249	154602	rs141352771	0.0006	0.0006	0.0007	0.0006	0.0197	0.0006	0.0006	0.0184	0.0179	0.0197	0.0012	0	0	0	0.0014	0.0001	0.0013	2.322e-05	0.0055	0.0055	0.0054	0.0056	0.0183	0.0052	0.0051	0.0172	0.0168	0.0183	0	0.0033	0	0	0	0.0136	0.0002	0.0057	0	0.032	0.53172	D	0.105	0.38596	T	0.976	0.58310	D	0.735	0.55480	P	0.000005	0.62929	D	0.102492	0.999151	0.22793	N	0.695	0.17993	N	-0.23	0.66652	T	-0.89	0.24026	N	0.235	0.27792	-0.9558	0.39952	T	0.129	0.43848	T	10	0.0047341585	0.00100	T	.	.	.	0.114	0.32008	.	.	0.521978482128	0.51842	0.43096501928647146	0.43013	0.4757096278	0.46736	0.539941728115	0.44437	T	0.202021	0.56007	T	-0.466105	0.00900	T	-0.427367	0.30235	T	0.0247687834559661	0.01243	T	0.789321	0.42944	T	0.0981459	0.23144	0.09610478	0.22821	0.1252315	0.29363	0.084922925	0.19571	-3.725	0.21089	T	0.2441827386043475	0.33075	0.096	0.15251	B	.;.;.	.;.;.	3.076207	0.41366	21.3	0.99605862540568801	0.74516	0.63800	0.32203	D	AEFDBI	0.237280	0.35959	N	0.101188604846489	0.46517	2.890956	0.138756027604618	0.46549	2.899127	0.999582367542353	0.40607	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.26	3.01	0.33872	1.499000	0.35279	7.836000	0.70319	0.754000	0.88378	0.998000	0.41325	1.000000	0.68203	0.918000	0.45347	0.7563:0.1577:0.086:0.0	6.383	0.20749	923	0.18507	.;.;.	.	.	.	.	.	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	0.02381	1546.98	38	chr19	35311958	.	A	C	1546.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.467e+00;DP=823;ExcessHet=0.0000;FS=5.777;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.34;ReadPosRankSum=-5.090e-01;SOR=0.531	GT:AD:DP:GQ:PL	0/1:51,65:116:99:1561,0,1258	20	0	1	0
chr19	35511468	35511492	ACCACTGCTGCCGCCACTGCTGCCG	0	exonic	DMKN	.	.	.	.	.	2	141	1	0	82	83	0.00353357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	1248.58	34	chr19	35511468	.	ACCACTGCTGCCGCCACTGCTGCCG	A,*	1248.58	.	AC=1,7;AF=0.024,0.167;AN=42;BaseQRankSum=0.761;DP=1237;ExcessHet=3.5521;FS=1.779;InbreedingCoeff=-0.2353;MLEAC=1,7;MLEAF=0.024,0.167;MQ=60.00;MQRankSum=0.00;QD=2.07;ReadPosRankSum=0.054;SOR=0.854	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:54,0,33:87:99:.:.:1234,1396,3642,0,2246,2128	13	0	1	0
chr19	36039712	36039712	G	A	exonic	THAP8	.	nonsynonymous SNV	THAP8:NM_001331102:exon3:c.C283T:p.R95W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.912	P	0.109	B	0.000	U	1.000	N	0.345	N	-2.45	D	-0.474	T	0.365	T	0.234	1.538	11.09	-0.786	-0.063	-0.390	2.735	0.289	0.042986515711	.	0.000199681	8.862e-05	0	0	0	0	0.0002	0	0	1.29e-05	2	154602	rs564576286	7.327e-06	2.121e-05	5.76e-06	8.949e-06	6.567e-05	3.71e-06	2.7e-06	1.087e-05	4.07e-06	6.567e-05	0	0	2.81e-05	0	0	4.701e-06	1.768e-05	1.372e-05	1.97e-05	1.969e-05	1.285e-05	2.686e-05	6.536e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	6.536e-05	0	0	0	0	2.941e-05	0	0	0.002	0.72154	D	0.005	0.72224	D	0.912	0.50421	P	0.109	0.31370	B	0.000195	0.00507	U	5.738480	1	0.08975	N	0.805	0.20218	L	-2.45	0.88847	D	-2.58	0.55662	D	0.18	0.19459	-0.4739	0.69587	T	0.365	0.72582	T	10	0.06639665	0.09099	T	0.042987	0.60749	D	0.289	0.60808	0.266	0.21261	0.753410226008	0.75117	0.2943218334270544	0.29345	0.111390099725	0.12571	0.334898948669	0.15673	T	0.044447	0.26817	T	-0.0305233	0.47341	T	-0.281621	0.46637	T	0.288521558046341	0.24528	T	0.60064	0.22426	T	0.13230139	0.30811	0.08614196	0.19936	0.13230139	0.30811	0.08614196	0.19935	-6.713	0.51908	T	.	.	0.096	0.15385	B	.	.	1.673214	0.21333	15.15	0.98813410103599197	0.46655	0.02660	0.07275	N	AEFBI	0.039744	0.05816	N	-0.805690390187772	0.13165	0.6466256	-0.968230054962364	0.10504	0.529421	0.00240997247318465	0.09398	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	2.76	-0.786	0.10394	-0.749000	0.04918	0.158000	0.15372	0.674000	0.70861	0.000000	0.06391	0.000000	0.08366	0.118000	0.19084	0.2453:0.0:0.3331:0.4216	2.735	0.04915	628	0.65206	.	.	.	.	.	.	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	0.02381	1195.98	33	chr19	36039712	.	G	A	1195.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.942;DP=944;ExcessHet=0.0000;FS=0.761;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.08;ReadPosRankSum=0.960;SOR=0.862	GT:AD:DP:GQ:PL	0/1:54,45:99:99:1210,0,1438	20	0	1	0
chr19	37565977	37565977	G	T	exonic	ZNF571	.	nonsynonymous SNV	ZNF571:NM_001321272:exon4:c.C451A:p.L151M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.03	B	0.063	B	.	.	1.000	N	0.985	L	3.1	T	-0.945	T	0.015	T	0.212	2.669	14.89	-6.47	-1.278	-1.228	5.844	0.010	0.00176210094268	.	.	2.476e-05	0	0	0	0	1.501e-05	0	0.0001	1.94e-05	3	154602	rs761281720	1.369e-05	1.368e-05	8.17e-06	1.926e-05	0.0002	8.94e-06	7.27e-06	9.792e-05	7.838e-05	0	0	0	0	0	0	3.598e-06	3.312e-05	0.0002	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.224	0.18691	T	0.157	0.31730	T	0.03	0.20002	B	0.063	0.27082	B	.	.	.	.	0.999984	0.18198	N	1.06	0.26948	L	3.1	0.08283	T	0.46	0.03140	N	0.181	0.21969	-0.9450	0.41814	T	0.015	0.05801	T	9	0.036863506	0.02007	T	0.001762	0.02986	T	0.010	0.01040	0.29	0.25081	0.0954503805726	0.09146	0.02854300279554754	0.02804	0.226271815611	0.25184	0.220005750656	0.01310	T	0.005887	0.05335	T	-0.532871	0.00369	T	-0.71106	0.05241	T	0.0559939835027057	0.06523	T	0.49905	0.15565	T	0.060746707	0.12500	0.055178367	0.09629	0.060746707	0.12500	0.055178367	0.09628	-5.949	0.45850	T	.	.	0.107	0.19919	B	.;.;.;.	.;.;.;.	-0.343621	0.02432	0.276	0.98063607287068932	0.37968	0.00018	0.00208	N	AEFBCI	0.056600	0.10476	N	-1.24960392743184	0.04305	0.1940326	-1.36796110529022	0.03599	0.1681914	0.17684827624108	0.17816	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	3.23	-6.47	0.01731	-2.933000	0.00753	.	.	-0.276000	0.06580	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0874:0.5338:0.1676:0.2113	5.844	0.17905	658	0.62094	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	0	0	0	0	0	0	0	1	0	0	0	0.02381	1879.98	41	chr19	37565977	.	G	T	1879.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.489e+00;DP=904;ExcessHet=0.0000;FS=1.468;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.28;ReadPosRankSum=0.968;SOR=0.558	GT:AD:DP:GQ:PL	0/1:53,70:123:99:1894,0,1455	20	0	1	0
chr19	37887093	37887093	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6578C:p.I2193T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.0	B	0.001	B	.	.	1.000	N	0.55	N	-0.28	T	-0.989	T	0.121	T	0.114	1.268	10.14	-4.52	-1.174	-2.695	8.886	0.030	0.0455139123668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.853e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.22138	T	0.693	0.05882	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	-0.28	0.67543	T	-0.07	0.08033	N	0.067	0.03956	-0.9885	0.32978	T	0.121	0.42208	T	9	0.0735006	0.11114	T	0.045514	0.62018	D	0.030	0.07022	0.322	0.30226	0.0551355673512	0.04727	0.019455290587693495	0.01899	.	.	0.366222500801	0.20289	T	.	.	.	-0.271564	0.11583	T	-0.627859	0.10578	T	0.0769434833446011	0.09592	T	0.353365	0.07952	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.37293	B	.;.	.;.	-1.370848	0.00382	0.007	0.78222985595802419	0.12208	0.01418	0.04786	N	AEFGBI	0.030388	0.03052	N	-1.5918959215929	0.01305	0.05684392	-1.65151224496589	0.01368	0.06179205	0.00476714215870287	0.10704	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	-4.52	0.03227	-2.190000	0.01332	.	.	-0.612000	0.04583	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3557:0.1261:0.5182:0.0	8.886	0.34564	646	0.63441	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3438	3239.79	87	chr19	37887093	.	A	G	3239.79	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-3.813e+00;DP=2213;ExcessHet=7.7275;FS=216.184;InbreedingCoeff=-0.4737;MLEAC=13;MLEAF=0.406;MQ=60.00;MQRankSum=0.00;QD=2.67;ReadPosRankSum=1.38;SOR=11.319	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,40:120:99:0|1:37887093_A_G:769,0,2744:37887093	5	0	11	5
chr19	37887095	37887095	C	T	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.G6576A:p.M2192I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.001	B	0.001	B	.	.	1.000	N	0	N	1.1	T	-1.038	T	0.044	T	0.146	0.505	6.738	0.383	0.403	-0.759	2.678	0.009	0.0204136497208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.31834	T	0.276	0.22016	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.1	0.39050	T	-0.48	0.15379	N	0.108	0.10483	-1.0375	0.18078	T	0.044	0.18948	T	9	0.05899042	0.07022	T	0.020414	0.42999	T	0.009	0.00846	0.39	0.41279	0.0920862733494	0.08535	0.029034270678991596	0.02852	.	.	0.393157303333	0.24114	T	.	.	.	-0.264741	0.12349	T	-0.618058	0.11338	T	0.0694930752056396	0.08580	T	0.381062	0.09207	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.64238	A	.;.	.;.	0.319938	0.06943	3.492	0.38647600985457964	0.02619	0.03920	0.09307	N	AEFGBI	0.049399	0.08530	N	-1.08419287681575	0.06934	0.320632	-1.08622430549721	0.07971	0.3899139	4.11720576999195E-4	0.06899	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	0.383	0.15462	0.602000	0.23833	.	.	0.589000	0.31548	0.070000	0.22072	0.000000	0.08366	0.013000	0.09966	0.3759:0.3632:0.0:0.2609	2.678	0.04771	646	0.63441	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	6132.23	64	chr19	37887095	.	C	T	6132.23	.	AC=15;AF=0.500;AN=30;BaseQRankSum=-4.055e+00;DP=2145;ExcessHet=17.4423;FS=296.629;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.600;MQ=60.00;MQRankSum=0.00;QD=3.74;ReadPosRankSum=1.29;SOR=12.164	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:80,31:116:99:.:.:722,0,2753	0	0	15	6
chr19	37887096	37887096	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6575C:p.M2192T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.213	B	0.033	B	.	.	1.000	N	0	N	1.06	T	-1.038	T	0.045	T	0.239	-0.012	3.951	2.35	0.269	1.921	5.276	0.034	0.0229314344301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.173e-07	2.259e-05	1.416e-06	0	9.296e-07	0	0	.	.	0	0	0	0	0	0	9.296e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.639	0.06992	T	0.213	0.30041	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	.	.	.	1.06	0.39781	T	-1.37	0.33998	N	0.241	0.27197	-1.0379	0.17954	T	0.045	0.19437	T	9	0.07963219	0.12831	T	0.022931	0.45860	T	0.034	0.08419	0.354	0.35408	0.132336055621	0.12781	0.09333230472886582	0.09265	.	.	0.44281449914	0.30962	T	.	.	.	-0.187347	0.22650	T	-0.506887	0.21634	T	0.185715109109879	0.19588	T	0.310469	0.06031	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.66846	A	.;.	.;.	1.675669	0.21359	15.17	0.2656475844503623	0.01278	0.05870	0.11817	N	AEFGBI	0.068161	0.13433	N	-0.937720259489842	0.09970	0.4742779	-0.936529822273914	0.11236	0.5712116	0.00186976402927546	0.08957	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	2.35	0.28166	3.208000	0.50816	.	.	0.743000	0.86499	0.302000	0.25342	0.056000	0.21938	0.017000	0.10941	0.637:0.1851:0.0:0.1778	5.276	0.14959	646	0.63441	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	5559.48	64	chr19	37887096	.	A	G	5559.48	.	AC=15;AF=0.469;AN=32;BaseQRankSum=-3.174e+00;DP=2173;ExcessHet=17.4423;FS=266.005;InbreedingCoeff=-0.7148;MLEAC=18;MLEAF=0.563;MQ=60.00;MQRankSum=0.00;QD=3.41;ReadPosRankSum=1.27;SOR=11.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,40:119:99:0|1:37887093_A_G:772,0,2709:37887093	1	0	15	5
chr19	38565212	38565212	C	T	exonic	RYR1	.	nonsynonymous SNV	RYR1:NM_001042723:exon90:c.C12863T:p.A4288V	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	.	.	.	.	.	.	.	.	.	.	648059	RYR1-related_disorder|Malignant_hyperthermia,_susceptibility_to,_1|King_Denborough_syndrome|Congenital_myopathy_with_fiber_type_disproportion|Central_core_myopathy|Congenital_multicore_myopathy_with_external_ophthalmoplegia|not_specified	MedGen:CN239331|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600,Orphanet:423|MONDO:MONDO:0020485,MedGen:C1840365,OMIM:619542|MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020|MONDO:MONDO:0007294,MedGen:C0751951,OMIM:117000,Orphanet:597|Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:598,Orphanet:98905|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.47	T	0.0	B	0.001	B	0.000	N	1.000	N	2.19	M	-4.07	D	-0.093	T	0.771	D	0.117	1.485	10.91	-0.935	-0.057	-2.291	6.872	0.281	0.990749129663	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1223090052	1.769e-05	3.147e-05	2.42e-05	1.017e-05	0.0015	1.062e-05	8.42e-06	0.0006	0.0004	6.239e-05	0	0	0.0015	0.0005	0	6.479e-06	7.114e-05	0	5.462e-05	5.349e-05	5.32e-05	5.612e-05	0.0014	2.645e-05	1.894e-05	0.0006	0.0005	2.445e-05	0	0	0	0.0014	0	0	0	0	0	0.533	0.06957	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	0.000140	0.49741	N	0.077474	1	0.08975	N	-0.09	0.04745	N	-4.08	0.96594	D	-0.91	0.24460	N	0.047	0.17828	-0.0927	0.80266	T	0.771	0.92209	D	10	0.15024236	0.28420	T	0.990749	0.99967	D	0.281	0.59861	0.389	0.41115	0.788161380564	0.78619	0.2106082519949478	0.20976	0.734598784777	0.62906	0.870956897736	0.92704	D	0.366216	0.73150	T	-0.0850006	0.38900	T	-0.359874	0.38068	T	0.284760177135468	0.24371	T	0.435056	0.11905	T	0.033878036	0.03695	0.055687394	0.09815	0.033878036	0.03695	0.055687394	0.09814	-4.782	0.34380	T	0.1621786183022456	0.19904	0.081	0.08176	B	.;.	.;.	-0.015825	0.04173	1.008	0.94492956262519823	0.24960	0.00557	0.02543	N	AEFDBCI	0.019392	0.00668	N	-1.1295232232616	0.06123	0.2810426	-1.25612398105796	0.05041	0.2392629	0.996939550303935	0.35130	0.59774	0.34471	0	0.475579	0.06741	0	0.550215	0.18615	0	0.63947	0.58350	0	.	.	2.88	-0.935	0.09893	-0.984000	0.03865	-0.887000	0.07042	-0.509000	0.05002	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.3929:0.0:0.6071	6.872	0.23307	659	0.61982	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	478.99	12	chr19	38565212	.	C	T	478.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.69;DP=478;ExcessHet=0.0000;FS=9.259;InbreedingCoeff=-0.0255;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=-6.170e-01;SOR=3.142	GT:AD:DP:GQ:PL	0/1:20,15:35:99:493,0,505	20	0	1	0
chr19	39418017	39418017	G	T	exonic	PLEKHG2	.	nonsynonymous SNV	PLEKHG2:NM_001351693:exon9:c.G818T:p.G273V	Leukodystrophy and acquired microcephaly with or without dystonia, Autosomal recessive	.	420	1070	30	2	0	34	0.0156394	.	.	1610372	Leukodystrophy_and_acquired_microcephaly_with_or_without_dystonia%3B|not_provided	MONDO:MONDO:0014766,MedGen:C4225213,OMIM:616763|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.17	T	1.0	D	0.998	D	0.000	D	1.000	D	0.69	N	-2.24	D	-0.180	T	0.381	T	0.59	4.115	21.2	4.65	2.606	3.873	8.934	0.530	.	0.0062	0.00658946	0.0189	0.0029	0.0141	0.0007	0.0113	0.0208	0.0312	0.0415	0.0079042	1222	154602	rs117405645	0.0095	0.0095	0.0093	0.0097	0.0217	0.0094	0.0093	0.0185	0.0174	0.0017	0.0074	0.0086	0.0001	0.0031	0.0217	0.0099	0.0096	0.0169	0.0074	0.0074	0.0072	0.0076	0.0176	0.0070	0.0069	0.0146	0.0135	0.0024	0	0.0112	0.0089	0.0002	0.0021	0.0308	0.0099	0.0142	0.0176	0.004	0.65419	D	0.012	0.63918	D	1.0	0.90584	D	0.998	0.88582	D	0.000279	0.46590	D	0.143807	0.999999	0.58761	D	1.245	0.31408	L	-2.24	0.87194	D	-2.04	0.49684	N	0.383	0.46835	-0.1804	0.78170	T	0.381	0.73774	T	10	0.0092255175	0.00208	T	.	.	.	0.530	0.80188	.	.	0.830166376265	0.82855	0.4847988160656083	0.48399	.	.	0.773349881172	0.77925	T	0.004272	0.03680	T	-0.211521	0.19166	T	-0.0629856	0.66123	T	0.0240597923232598	0.01153	T	0.875712	0.58780	D	0.1913511	0.40759	0.16917193	0.38932	0.1935495	0.41069	0.16917193	0.38931	-13.033	0.89499	D	.	.	0.61	0.69292	P	.;.;.	.;.;.	4.848343	0.79229	27.1	0.99764376607998473	0.85335	0.94590	0.61662	D	AEFBI	0.628148	0.61034	D	0.261891830940901	0.54231	3.589069	0.349564429723923	0.58480	4.018855	0.999999469872948	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	4.65	4.65	0.57626	3.909000	0.56076	.	.	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.1:0.0:0.9:0.0	8.934	0.34849	688	0.59122	Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1396.98	34	chr19	39418017	.	G	T	1396.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.652;DP=831;ExcessHet=0.0000;FS=1.710;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.40;ReadPosRankSum=0.896;SOR=0.543	GT:AD:DP:GQ:PL	0/1:36,61:97:99:1411,0,680	20	0	1	0
chr19	40667990	40667993	CTGT	0	exonic	NUMBL	.	.	.	.	.	0	27	2	1	196	200	0.0689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	778.0	37	chr19	40667990	.	CTGT	*,C	778.0	.	AC=25,1;AF=0.595,0.024;AN=42;DP=1037;ExcessHet=0.3152;FS=2.665;InbreedingCoeff=0.2195;MLEAC=25,1;MLEAF=0.595,0.024;MQ=60.00;QD=0.91;SOR=0.513	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,48,0:48:99:1|1:40667975_C_T:2074,144,0,2074,144,2074:40667975	4	8	8	0
chr19	40876638	40876638	C	T	exonic	CYP2A7	.	nonsynonymous SNV	CYP2A7:NM_030589:exon7:c.G1039A:p.V347M	.	.	3	1495	23	1	0	25	0.00829187	.	.	2808714	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.989	D	0.000	U	0.875	N	1.885	L	-0.39	T	-0.571	T	0.297	T	0.273	2.172	13.22	1.03	0.214	1.427	9.675	0.301	0.0211865437845	0.0048	0.000998403	0.0041	0.0007	0.0022	0	0.0024	0.0063	0.0066	0.0017	0.0039262	607	154602	rs138869707	0.0047	0.0047	0.0046	0.0048	0.0054	0.0046	0.0046	0.0050	0.0049	0.0006	0.0030	0.0138	2.519e-05	0.0032	0.0054	0.0051	0.0064	0.0016	0.0040	0.0040	0.0041	0.0038	0.0059	0.0037	0.0036	0.0051	0.0049	0.0008	0	0.0059	0.0130	0	0.0034	0.0137	0.0056	0.0076	0.0008	0.007	0.78490	D	0.006	0.70582	D	1.0	0.90584	D	0.958	0.71005	D	0.000002	0.62929	U	0.000000	0.874761	0.28148	N	3.3	0.90472	M	-0.39	0.69158	T	-2.37	0.52289	N	0.6	0.61849	-0.5710	0.65975	T	0.297	0.66858	T	10	0.018483907	0.00403	T	0.021187	0.43920	T	0.301	0.62179	.	.	0.621965656393	0.61889	0.3189579386612236	0.31808	0.417512201385	0.42368	0.528957486153	0.42887	T	0.022676	0.17443	T	-0.346878	0.04925	T	-0.2694	0.47879	T	0.0679574926277712	0.08361	T	0.90141	0.65732	D	0.46873435	0.65212	0.5499202	0.73977	0.46873435	0.65213	0.5499202	0.73978	-8.84	0.66661	D	.	.	0.321	0.54558	B	.;.	.;.	3.183702	0.43231	21.7	0.9973877714874223	0.83337	0.63272	0.32038	D	AEFDBCI	0.285685	0.39825	N	-0.0741509742085061	0.38529	2.257997	-0.284548861514484	0.28606	1.596326	0.173969494644633	0.17776	0.549168	0.22868	0	0.563428	0.19063	0	0.590023	0.30420	0	0.530356	0.10902	0	.	.	2.18	1.03	0.19161	2.273000	0.43041	.	.	0.311000	0.19140	0.436000	0.26456	0.000000	0.08366	0.069000	0.16583	0.0:0.7847:0.2153:0.0	9.675	0.39201	564	0.70960	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2108.98	37	chr19	40876638	.	C	T	2108.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.75;DP=962;ExcessHet=0.0000;FS=5.034;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.78;MQRankSum=-1.580e+00;QD=14.06;ReadPosRankSum=-1.363e+00;SOR=1.106	GT:AD:DP:GQ:PL	0/1:68,82:150:99:2123,0,1417	20	0	1	0
chr19	42272064	42272064	A	G	exonic	CIC	.	nonsynonymous SNV	CIC:NM_001304815:exon2:c.A281G:p.K94R	.	.	409	1112	1	0	0	1	0.000449438	.	.	1291899	Intellectual_disability,_autosomal_dominant_45|not_provided	MONDO:MONDO:0030910,MedGen:C4539848,OMIM:617600|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218647824824	.	0.00159744	0	0	.	.	.	0	.	.	0.0005763	15	26028	rs539540626	0.0003	0.0002	0.0002	0.0003	0.0151	0.0002	0.0002	0.0116	0.0104	0	0	0	0	4.797e-05	0.0008	6.316e-05	0.0002	0.0151	0.0004	0.0004	0.0002	0.0006	0.0116	0.0003	0.0003	0.0092	0.0083	4.811e-05	0	0	0	0	0	0	1.471e-05	0	0.0116	.	.	.	0.374	0.16280	T	.	.	.	.	.	.	.	.	.	.	0.992264	0.23909	N	.	.	.	-5.05	0.98611	D	.	.	.	0.202	0.22357	.	.	.	.	.	.	.	0.011375397	0.00249	T	0.218648	0.87669	D	.	.	.	.	0.82735623235	0.82572	.	.	.	.	.	.	.	0.005915	0.34783	T	0.144599	0.68761	D	-0.03007	0.68364	D	.	.	.	0.735926	0.37546	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.18622	B	.;.	.;.	3.903518	0.56875	23.8	0.98988730009747605	0.49902	0.83150	0.42292	D	AEFBCI	0.354588	0.44661	N	.	.	.	.	.	.	0.999999993524844	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.08	4.08	0.46880	4.845000	0.62551	11.130000	0.86775	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.747000	0.35681	1.0:0.0:0.0:0.0	11.333	0.48723	662	0.61715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	704.98	35	chr19	42272064	.	A	G	704.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.087;DP=778;ExcessHet=0.0000;FS=5.456;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.82;ReadPosRankSum=-1.490e+00;SOR=1.068	GT:AD:DP:GQ:PL	0/1:27,28:55:99:719,0,647	20	0	1	0
chr19	42588791	42588792	TG	-	exonic	CEACAM8	.	frameshift deletion	CEACAM8:NM_001816:exon4:c.950_951del:p.T317Sfs*3,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs916010743	7.525e-06	7.525e-06	9.529e-06	5.5e-06	2.519e-05	4.04e-06	2.95e-06	3.85e-06	2.24e-06	0	0	0	2.519e-05	0	0	7.194e-06	0	2.319e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2354.94	34	chr19	42588790	.	CTG	C	2354.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.28;DP=860;ExcessHet=0.0000;FS=0.617;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.19;ReadPosRankSum=-5.690e-01;SOR=0.779	GT:AD:DP:GQ:PL	0/1:92,63:155:99:2369,0,3667	20	0	1	0
chr19	42733028	42733028	G	T	exonic	PSG3	.	nonsynonymous SNV	PSG3:NM_021016:exon3:c.C465A:p.N155K,	.	.	8	1508	6	0	0	6	0.00198544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.051	B	0.077	B	.	.	1.000	N	2.3	M	3.07	T	-0.989	T	0.027	T	0.019	0.401	6.177	0.461	0.021	0.239	4.019	0.024	.	7.7e-05	0.00299521	0.0015	0.0002	0	0	0	2.997e-05	0	0.0111	0.0013454	208	154602	rs371709630	0.0007	0.0007	0.0004	0.0009	0.0101	0.0006	0.0006	0.0095	0.0093	0.0001	4.472e-05	0	0	3.744e-05	0.0007	2.608e-05	0.0008	0.0101	0.0005	0.0005	0.0003	0.0006	0.0135	0.0004	0.0003	0.0109	0.0099	2.408e-05	0	0	0	0	0	0	4.411e-05	0	0.0135	0.04	0.42199	D	0.057	0.49942	T	0.0	0.02946	B	0.012	0.16012	B	.	.	.	.	1	0.08975	N	2.54	0.74080	M	3.07	0.08547	T	-3.67	0.70191	D	0.084	0.06454	-0.9888	0.32903	T	0.027	0.11618	T	9	0.0038850307	0.00074	T	.	.	.	0.024	0.04979	0.365	0.37199	0.230578612272	0.22657	0.05315956693181324	0.05257	0.00315874859178	0.00272	0.434398978949	0.29810	T	0.034183	0.33658	T	-0.72779	0.00025	T	-0.808802	0.01692	T	0.0209267453478754	0.00793	T	0.627737	0.24556	T	0.11937455	0.28109	0.09321106	0.22005	0.11937455	0.28109	0.09321106	0.22004	-7.469	0.57392	T	.	.	0.208	0.44847	B	.;.;.	.;.;.	0.767012	0.11369	7.984	0.89692995166051925	0.19017	0.00500	0.02358	N	AEFBI	0.028645	0.02562	N	-0.890552452434949	0.11066	0.5320809	-1.05388338464607	0.08626	0.4250551	1.723591011047E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.59	0.461	0.15901	-0.007000	0.12747	-1.271000	0.05852	-1.304000	0.01241	0.007000	0.17678	0.000000	0.08366	0.000000	0.00833	0.2435:0.0:0.7565:0.0	4.019	0.09144	423	0.81269	Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2836.98	37	chr19	42733028	.	G	T	2836.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.73;DP=971;ExcessHet=0.0000;FS=1.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.43;MQRankSum=-8.405e+00;QD=11.13;ReadPosRankSum=-1.603e+00;SOR=0.790	GT:AD:DP:GQ:PL	0/1:145,110:255:99:2851,0,3530	20	0	1	0
chr19	45067488	45067499	AGCCGCAGCCGC	-	exonic	CLASRP	.	nonframeshift deletion	CLASRP:NM_001278439:exon13:c.1375_1386del:p.R464_S467del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0087	0.000998403	0.0004	0.0026	0	0	0	0.0005	0	0.0001	0.0001921	5	26028	rs566205384	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0	0.0002	4.898e-05	0.0005	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	0.0001	0.0002	0.0001	0.0002	0	6.571e-05	0	0.0004	9.488e-05	0	0.0003	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1095.94	35	chr19	45067487	.	GAGCCGCAGCCGC	G	1095.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.786;DP=777;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.01;ReadPosRankSum=-7.200e-02;SOR=0.725	GT:AD:DP:GQ:PL	0/1:42,31:73:99:1110,0,1638	20	0	1	0
chr19	45179399	45179399	G	T	exonic	BLOC1S3	.	stopgain	BLOC1S3:NM_212550:exon2:c.G103T:p.E35X,	Hermansky-Pudlak syndrome 8	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	.	.	.	.	0.426	N	1.000	D	.	.	.	.	.	.	.	.	.	5.369	34	0.201	0.317	0.362	7.731	.	.	.	.	0.0001	0	0	0	0	0.0002	0	0	4.53e-05	7	154602	rs752914054	9.163e-06	1.368e-05	7.001e-06	1.136e-05	0.0016	5.11e-06	3.94e-06	0.0008	0.0006	0	0	0	0	0	0.0016	9.104e-07	3.393e-05	1.211e-05	1.314e-05	1.313e-05	2.569e-05	0	.	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0032	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	0.426136	0.12808	N	0.624228	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.13	0.24260	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426001	0.91330	D	0.54	0.95419	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	7.022575	0.96045	35	0.99611955800639806	0.74873	0.26162	0.22913	N	AEFDBHCI	0.114354	0.22527	N	0.42443044880098	0.62770	4.498356	0.135434025130824	0.46374	2.884483	0.999999997694724	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.372554	0.06265	0	.	.	2.93	0.201	0.14463	0.298000	0.18874	1.854000	0.29277	0.504000	0.22967	0.166000	0.23880	0.994000	0.32194	0.847000	0.40026	0.0:0.0:0.5701:0.4299	7.731	0.27955	934	0.15400	.;.	.	.	.	.	.	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	0.02381	1065.98	34	chr19	45179399	.	G	T	1065.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.96;DP=776;ExcessHet=0.0000;FS=0.907;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.81;ReadPosRankSum=-9.530e-01;SOR=0.547	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,29:72:99:0|1:45179399_G_T:1080,0,1698:45179399	20	0	1	0
chr19	45179400	45179400	A	C	exonic	BLOC1S3	.	nonsynonymous SNV	BLOC1S3:NM_212550:exon2:c.A104C:p.E35A,	Hermansky-Pudlak syndrome 8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.201	B	0.031	B	0.426	N	1.000	N	0	N	.	.	-1.049	T	0.040	T	0.164	2.382	13.92	1.77	1.121	0.657	6.247	0.094	0.00503079722872	.	.	9.825e-05	0	0	0	0	0.0002	0	0	3.88e-05	6	154602	rs760982368	8.465e-06	8.209e-06	5.604e-06	1.137e-05	0.0016	4.51e-06	3.57e-06	0.0008	0.0006	0	0	0	0	0	0.0016	9.11e-07	3.396e-05	0	1.317e-05	1.314e-05	2.573e-05	0	.	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0032	0	0.0005	0	0.023	0.48186	D	0.087	0.40747	T	0.201	0.29693	B	0.031	0.21939	B	0.426136	0.12808	N	0.624228	0.975019	0.25458	N	0	0.06538	N	.	.	.	-1.85	0.43334	N	0.172	0.36989	-1.0489	0.14705	T	0.040	0.17234	T	9	0.07989609	0.12906	T	0.005031	0.12722	T	0.094	0.27141	0.14	0.04369	0.388010793773	0.38412	0.245427045700252	0.24456	1.45917888074	0.86306	0.866385698318	0.92047	D	0.282506	0.65525	T	-0.273256	0.11397	T	-0.464433	0.26118	T	0.0628208706937676	0.07606	T	0.534247	0.17838	T	0.13317144	0.30983	0.105959035	0.25481	0.17010681	0.37566	0.11436826	0.27607	-4.97	0.36512	T	.	.	0.087	0.11558	B	.;.	.;.	2.437718	0.31368	18.72	0.97219177180825433	0.32896	0.35874	0.25403	N	AEFDBHCI	0.068852	0.13600	N	-0.487682169063308	0.22483	1.200872	-0.386508431332523	0.25398	1.396513	0.999999998439616	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.372554	0.06265	0	.	.	2.93	1.77	0.23848	0.786000	0.26505	2.422000	0.32692	0.561000	0.28422	0.302000	0.25342	0.998000	0.33993	0.887000	0.42601	0.7472:0.2528:0.0:0.0	6.247	0.20035	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1065.98	34	chr19	45179400	.	A	C	1065.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.836;DP=775;ExcessHet=0.0000;FS=0.907;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.81;ReadPosRankSum=-1.123e+00;SOR=0.547	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,29:72:99:0|1:45179399_G_T:1080,0,1698:45179399	20	0	1	0
chr19	46018311	46018311	C	T	exonic	CCDC61	.	nonsynonymous SNV	CCDC61:NM_001267723:exon14:c.C1463T:p.A488V,	.	.	392	1115	15	0	0	15	0.00668151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.001	B	0.001	B	0.150	N	1.000	N	1.155	L	.	.	-1.039	T	0.071	T	0.042	1.972	12.55	2.39	0.355	0.636	6.313	0.018	.	0.0006	0.00359425	0.0059	0.0008	0.0112	0	0	0.0022	0.0037	0.0151	0.0018434	285	154602	rs200930017	0.0015	0.0015	0.0012	0.0019	0.0131	0.0015	0.0014	0.0125	0.0122	0.0002	0.0015	0.0001	0.0001	0.0001	0.0129	0.0008	0.0014	0.0131	0.0010	0.0010	0.0008	0.0011	0.0130	0.0009	0.0008	0.0105	0.0095	9.622e-05	0	0.0008	0	0.0002	0	0.0136	0.0010	0.0009	0.0130	0.01	0.56456	D	0.106	0.37872	T	.	.	.	.	.	.	0.150065	0.17997	N	0.565165	0.999996	0.08975	N	2.015	0.55033	M	.	.	.	-0.15	0.09297	N	0.1	0.19593	-1.0391	0.17587	T	0.071	0.29034	T	9	0.0035758913	0.00065	T	.	.	.	0.018	0.03083	.	.	0.229264304666	0.22521	0.3306702447853706	0.32980	0.833967175837	0.67741	0.409634768963	0.26406	T	0.003717	0.03121	T	-0.637576	0.00086	T	-0.677579	0.07132	T	0.0187710791674414	0.00589	T	0.610839	0.23175	T	0.020563293	0.00619	0.057317853	0.10398	0.020563293	0.00619	0.057317853	0.10398	-5.148	0.45909	T	.	.	0.095	0.32469	B	.;.;.	.;.;.	2.282466	0.29185	18.04	0.98973339018356021	0.49580	0.14098	0.18221	N	AEFDBI	0.077167	0.15541	N	-0.822255558081436	0.12742	0.6230783	-0.756162632851209	0.15572	0.8195905	0.00144421728894764	0.08543	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.61	2.39	0.28492	0.246000	0.17935	0.534000	0.19274	-0.856000	0.02670	0.267000	0.25017	0.066000	0.22130	0.776000	0.36750	0.0:0.699:0.1949:0.1061	6.313	0.20384	693	0.58582	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1429.11	36	chr19	46018311	.	C	T	1429.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.36;DP=860;ExcessHet=0.1072;FS=2.988;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.72;ReadPosRankSum=1.02;SOR=0.475	GT:AD:DP:GQ:PL	0/1:42,39:81:99:927,0,983	19	0	2	0
chr19	46600922	46600922	T	A	exonic	PPP5D1	.	nonsynonymous SNV	PPP5D1:NM_001205281:exon1:c.A48T:p.Q16H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.98	D	0.965	D	.	.	0.816	N	0	N	1.86	T	-1.034	T	0.073	T	0.624	4.073	20.9	5.06	2.128	3.800	11.112	0.183	0.014404533207	.	.	0.0002	0	0	0	0	0.0006	0	0	3.84e-05	1	26028	rs759861056	2.891e-06	2.736e-06	0	5.858e-06	0.0005	6.8e-07	4.6e-07	0.0001	7.638e-05	0	0	0	0	0	0.0005	0	0	1.262e-05	6.573e-06	6.568e-06	0	1.346e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.034	0.44029	D	0.0	0.92824	D	0.98	0.59353	D	0.965	0.71173	D	.	.	.	.	0.815695	0.28946	N	0	0.06538	N	1.86	0.24285	T	-0.83	0.22727	N	0.503	0.53532	-1.0338	0.19236	T	0.073	0.29515	T	9	0.3294266	0.50196	T	0.014405	0.34508	T	0.183	0.45592	0.475	0.55182	0.275215494804	0.27121	0.17371452144291907	0.17291	0.350943177444	0.36936	.	.	.	0.025434	0.19020	T	-0.0567332	0.43417	T	-0.191491	0.55450	T	0.526402413845062	0.33601	D	0.310869	0.06046	T	0.23070812	0.45830	0.3687717	0.62160	0.23070812	0.45830	0.3687717	0.62160	.	.	.	.	.	0.281	0.51402	B	.	.	2.988504	0.39887	21.1	0.9955165955311257	0.71211	0.96731	0.70638	D	ALL	0.714008	0.66662	D	0.395288288055013	0.61165	4.314127	0.445585025326037	0.64433	4.69849	1.0	0.98316	0.034631	0.00232	3	0.374146	0.05931	1	0.179345	0.04352	3	0.273489	0.05413	2	.	.	5.06	5.06	0.67838	2.238000	0.42719	7.553000	0.60314	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	11.112	0.47463	923	0.18507	.	.	.	.	.	.	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	0.02381	1521.98	34	chr19	46600922	.	T	A	1521.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.263;DP=839;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.28;ReadPosRankSum=-2.430e-01;SOR=0.644	GT:AD:DP:GQ:PL	0/1:83,65:148:99:1536,0,2029	20	0	1	0
chr19	49061735	49061735	G	A	exonic	NTF4	.	nonsynonymous SNV	NTF4:NM_006179:exon2:c.C263T:p.A88V,	Glaucoma 1, open angle, 1O	.	1	1467	51	3	0	57	0.0190572	.	.	29056	Intellectual_disability,_X-linked_99|Glaucoma_1,_open_angle,_O	MONDO:MONDO:0010487,MedGen:C3806746,OMIM:300919,Orphanet:777|MONDO:MONDO:0013134,MedGen:C2751294,OMIM:613100	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.6	P	0.131	N	1.000	N	-0.55	N	-0.17	T	-0.985	T	0.090	T	0.718	2.502	14.32	3.54	1.945	2.334	11.307	0.334	.	0.0023	0.00579073	0.0059	0.0006	0.0021	0.0002	0	0.0041	0.0142	0.0215	0.0043143	667	154602	rs61732310	0.0034	0.0034	0.0029	0.0039	0.0178	0.0033	0.0033	0.0171	0.0168	0.0005	0.0017	0.0063	2.527e-05	0.0005	0.0163	0.0026	0.0040	0.0178	0.0025	0.0025	0.0024	0.0026	0.0189	0.0023	0.0022	0.0157	0.0146	0.0004	0.0121	0.0018	0.0055	0	0.0008	0.0136	0.0030	0.0038	0.0189	.	.	.	0.483	0.11795	T	0.999	0.77913	D	0.6	0.50752	P	0.130810	0.18645	N	0.405273	5.87488e-05	0.19238	A	-0.695	0.01866	N	-0.17	0.65563	T	.	.	.	0.324	0.36464	-0.9848	0.33879	T	0.090	0.34546	T	10	0.02159813	0.00520	T	.	.	.	.	.	.	.	0.779305911428	0.77726	0.24109617930085175	0.24023	.	.	0.545061886311	0.45161	T	0.224577	0.58905	T	-0.256087	0.13362	T	-0.126348	0.61278	T	0.0296463213828842	0.01935	T	0.638636	0.26756	T	0.10771276	0.25470	0.13080947	0.31424	0.1209873	0.28458	0.14495279	0.34394	-4.236	0.27270	T	0.10855820618084228	0.08962	0.118	0.25560	B	.;.	.;.	3.977641	0.58453	24.0	0.99798950836418121	0.88372	0.21620	0.21466	N	AEFDBHCI	0.117629	0.23034	N	-0.199531165461691	0.33154	1.877763	-0.223450324804954	0.30696	1.730661	0.999623941382992	0.41093	0.646311	0.45356	0	0.578056	0.33634	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	3.54	3.54	0.39650	1.654000	0.36950	6.452000	0.55675	0.614000	0.49286	0.954000	0.33273	1.000000	0.68203	0.757000	0.36037	0.0:0.0:1.0:0.0	11.307	0.48576	856	0.34373	.;.	.	.	.	.	.	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	0.02381	2249.98	35	chr19	49061735	.	G	A	2249.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.007e+00;DP=854;ExcessHet=0.0000;FS=0.588;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.98;ReadPosRankSum=-1.400e-02;SOR=0.750	GT:AD:DP:GQ:PL	0/1:73,88:161:99:2264,0,1813	20	0	1	0
chr19	49154456	49154456	-	CATCAT	exonic	HRC	.	nonframeshift insertion	HRC:NM_002152:exon1:c.781_782insATGATG:p.D261_V262insDD,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	20926.44	44	chr19	49154453	.	ACAT	A,ACATCATCAT,ACATCAT	20926.44	.	AC=17,1,3;AF=0.405,0.024,0.071;AN=42;BaseQRankSum=0.276;DP=1607;ExcessHet=2.0051;FS=3.406;InbreedingCoeff=-0.0476;MLEAC=17,1,3;MLEAF=0.405,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=23.81;ReadPosRankSum=0.061;SOR=0.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:25,0,20,0:45:99:.:.:740,817,1828,0,1011,951,817,1828,1011,1828	5	4	8	0
chr19	49154456	49154456	-	CAT	exonic	HRC	.	nonframeshift insertion	HRC:NM_002152:exon1:c.781_782insATG:p.D261_V262insD,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	20926.44	44	chr19	49154453	.	ACAT	A,ACATCATCAT,ACATCAT	20926.44	.	AC=17,1,3;AF=0.405,0.024,0.071;AN=42;BaseQRankSum=0.276;DP=1607;ExcessHet=2.0051;FS=3.406;InbreedingCoeff=-0.0476;MLEAC=17,1,3;MLEAF=0.405,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=23.81;ReadPosRankSum=0.061;SOR=0.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:25,0,20,0:45:99:.:.:740,817,1828,0,1011,951,817,1828,1011,1828	5	4	8	0
chr19	50039275	50039275	C	G	exonic	ZNF473	.	nonsynonymous SNV	ZNF473:NM_001308424:exon2:c.C88G:p.L30V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.021	B	0.03	B	0.002	N	1.000	N	2.285	M	3.96	T	-1.039	T	0.018	T	0.262	1.167	9.748	2.81	0.807	-0.552	12.523	0.120	0.0060188163365	.	.	8.241e-06	0	0	0	0	0	0	6.062e-05	6.5e-06	1	154602	rs764160714	4.789e-06	4.788e-06	5.445e-06	4.126e-06	6.956e-05	1.99e-06	1.28e-06	2.995e-05	2.038e-05	0	0	0	0	0	0	0	1.656e-05	6.956e-05	1.314e-05	1.313e-05	0	2.69e-05	0.0004	2.18e-06	8.2e-07	7.282e-05	3.026e-05	0	0	0	0	0	0	0	0	0	0.0004	0.011	0.57480	D	0.0	0.92824	D	0.021	0.18474	B	0.03	0.21741	B	0.002198	0.37053	N	0.000000	1	0.08975	N	2.415	0.69758	M	3.96	0.03354	T	-2.1	0.47852	N	0.3	0.35194	-1.0386	0.17740	T	0.018	0.07234	T	10	0.45665792	0.59031	T	0.006019	0.15728	T	0.120	0.33359	0.808	0.92512	0.187035705434	0.18338	0.20394816659745804	0.20311	0.28722763763	0.31124	0.28375557065	0.08022	T	0.005134	0.04570	T	-0.325673	0.06445	T	-0.608729	0.12089	T	0.13512727094898	0.15848	T	0.59724	0.22223	T	0.12912598	0.30168	0.1598387	0.37258	0.12912598	0.30168	0.1598387	0.37257	-5.7	0.43694	T	.	.	0.103	0.44656	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.855121	0.23566	16.07	0.99325563282946239	0.59546	0.05739	0.11666	N	AEFBI	0.038426	0.05438	N	-0.857804385166989	0.11858	0.5746418	-0.911041477642776	0.11834	0.6052673	0.00892972700932464	0.11765	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.98	2.81	0.31971	-1.627000	0.02136	1.074000	0.23831	-0.174000	0.10959	0.000000	0.06391	0.553000	0.25478	0.141000	0.19983	0.3017:0.6983:0.0:0.0	12.523	0.55417	730	0.54327	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;.;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1518.98	36	chr19	50039275	.	C	G	1518.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.490e-01;DP=889;ExcessHet=0.0000;FS=1.261;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.99;ReadPosRankSum=0.643;SOR=0.556	GT:AD:DP:GQ:PL	0/1:102,67:169:99:1533,0,2606	20	0	1	0
chr19	50260650	50260650	G	A	exonic	MYH14	.	nonsynonymous SNV	MYH14:NM_024729:exon18:c.G2236A:p.E746K	Deafness, autosomal dominant 4A, Autosomal dominant	.	1	1519	2	0	0	2	0.000657895	.	.	53226	not_provided|Autosomal_dominant_nonsyndromic_hearing_loss_4A|MYH14-related_disorder|not_specified	MedGen:C3661900|MONDO:MONDO:0010915,MedGen:C1833503,OMIM:600652,Orphanet:90635|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.77	T	0.901	P	0.195	B	.	.	1.000	D	1.13	L	-2.18	D	-0.302	T	0.402	T	0.666	3.936	20.1	4.23	2.362	9.355	14.49	0.579	.	.	0.00299521	0.0022	0	0.0002	0	0	0	0.0023	0.0155	0.0018111	280	154602	rs397516628	0.0009	0.0009	0.0005	0.0013	0.0142	0.0009	0.0008	0.0135	0.0132	0.0001	6.717e-05	0	5.041e-05	1.876e-05	0.0005	1.08e-05	0.0010	0.0142	0.0006	0.0006	0.0003	0.0009	0.0169	0.0005	0.0004	0.0140	0.0129	2.417e-05	0	0.0001	0	0.0004	0	0	0	0	0.0169	0.002	0.72154	D	0.135	0.34477	T	0.88	0.49677	P	0.176	0.36592	B	.	.	.	.	1	0.81001	D	1.1	0.28011	L	-2.18	0.86722	D	-3.85	0.72353	D	0.817	0.82358	-0.3016	0.74940	T	0.402	0.75281	T	9	0.01169014	0.00254	T	.	.	.	0.579	0.83024	0.513	0.61153	0.874338531701	0.87310	0.7832542871364795	0.78276	0.927983810509	0.71708	0.87479364872	0.93246	D	0.631993	0.88606	D	-0.120417	0.33056	T	0.0659286	0.74639	D	0.155578378032356	0.17539	T	0.976102	0.91674	D	0.27856553	0.50909	0.4795186	0.69853	0.33864182	0.56171	0.580226	0.75671	-8.286	0.64482	D	0.7918888842266457	0.87017	0.937	0.91928	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.339760	0.66570	25.0	0.99911681491107851	0.98095	0.99340	0.94730	D	AEFDGCI	0.914863	0.87883	D	0.0934851095846664	0.46159	2.860625	0.1619673479404	0.47779	3.003086	0.999998867164271	0.74766	0.695654	0.57023	0	0.573888	0.26702	0	0.723109	0.80598	0	0.564101	0.26826	0	.	.	4.23	4.23	0.49319	9.699000	0.97950	11.339000	0.92553	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.490000	0.28791	0.0:0.0:1.0:0.0	14.49	0.67226	856	0.34373	.;.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain;.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain;.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Likely benign	0	0	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	0.02381	1953.98	84	chr19	50260650	.	G	A	1953.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.62;DP=2199;ExcessHet=0.0000;FS=1.257;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.53;ReadPosRankSum=-1.732e+00;SOR=0.850	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,80:156:99:0|1:50260632_C_T:1968,0,1728:50260632	20	0	1	0
chr19	51499211	51499211	G	A	exonic	SIGLEC12	.	nonsynonymous SNV	SIGLEC12:NM_033329:exon3:c.C740T:p.P247L	.	.	.	.	.	.	.	.	.	.	.	2225236	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.914	P	0.828	P	0.005	U	1.000	N	2.055	M	0.32	T	-0.880	T	0.244	T	0.138	2.484	14.26	1.15	1.275	1.088	4.190	0.123	0.013984182654	.	.	.	.	.	.	.	.	.	.	.	.	.	rs912348133	1.3e-05	1.3e-05	1.089e-05	1.513e-05	0.0002	8.31e-06	6.7e-06	6.51e-05	4.449e-05	0	0	0	0.0002	0	0	7.195e-06	1.656e-05	4.637e-05	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	0.013	0.53900	D	0.023	0.57104	D	0.866	0.50529	P	0.659	0.59497	P	0.005427	0.32805	U	0.000000	1	0.08975	N	3.04	0.86592	M	0.32	0.58468	T	-8.68	0.97599	D	0.251	0.33250	-0.8798	0.49778	T	0.244	0.61260	T	10	0.23910692	0.41045	T	0.013984	0.33782	T	0.123	0.34020	0.597	0.72739	0.486282253068	0.48261	0.418256791949938	0.41741	0.253986170498	0.27969	0.403607428074	0.25571	T	0.054355	0.29701	T	-0.354934	0.04425	T	-0.44729	0.27997	T	0.548283803077508	0.34413	D	0.813119	0.46553	T	0.1726368	0.37965	0.14592706	0.34591	0.1726368	0.37965	0.14592706	0.34590	-6.603	0.51076	T	.	.	0.248	0.48313	B	.;.	.;.	1.876313	0.23830	16.17	0.99157182565424429	0.53987	0.02384	0.06771	N	AEFDGBI	0.043759	0.06956	N	-0.215617859140758	0.32493	1.833036	-0.447756755145643	0.23612	1.288598	0.0212500163131898	0.13332	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.22	1.15	0.19876	1.316000	0.33226	.	.	0.579000	0.29447	0.046000	0.21249	0.000000	0.08366	0.452000	0.27939	0.2114:0.0:0.7886:0.0	4.190	0.09877	921	0.19240	Immunoglobulin-like 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	1	0	0	0	0.02381	1886.98	56	chr19	51499211	.	G	A	1886.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.20;DP=1308;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.68;ReadPosRankSum=0.936;SOR=0.731	GT:AD:DP:GQ:PL	0/1:116,79:195:99:1901,0,2826	20	0	1	0
chr19	52384817	52384817	-	TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG	exonic	ZNF880	.	frameshift insertion	ZNF880:NM_001145434:exon4:c.1237_1238insTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG:p.C413Ffs*26,	.	.	356	750	399	11	6	427	0.219157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0005	9.004e-05	0.0002	0	0.0002	0.0011	0.0001	.	.	.	.	0.0011	0.0034	0.0011	0.0011	0.0017	0.0011	0.0010	0.0015	0.0014	0.0015	0.0014	0.0027	0.0017	0.0016	0.0012	0.0009	0.0017	0.0017	0.0051	0.0069	0.0056	0.0045	0.0071	0.0048	0.0046	0.0051	0.0050	0.0046	0.0045	0.0056	0.0051	0.0026	0.0033	0.0106	0.0056	0.0030	0.0071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	8259.44	38	chr19	52384817	.	T	TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG,TTTGGGAGGCCGAGGCGG	8259.44	.	AC=1,11;AF=0.024,0.262;AN=42;BaseQRankSum=2.83;DP=1581;ExcessHet=9.6308;FS=104.319;InbreedingCoeff=-0.4000;MLEAC=1,11;MLEAF=0.024,0.262;MQ=58.44;MQRankSum=-8.940e-01;QD=11.25;ReadPosRankSum=-1.179e+00;SOR=7.257	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:72,0,10:82:99:0|1:52384817_T_TTTGGGAGGCCGAGGCGG:196,415,3401,0,2986,2956:52384817	9	0	1	0
chr19	52504682	52504682	A	G	exonic	ZNF578	.	nonsynonymous SNV	ZNF578:NM_001099694:exon5:c.A91G:p.I31V	.	.	162	1325	35	0	0	35	0.0130354	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	B	0.063	B	.	.	1.000	N	0.42	N	.	.	-1.006	T	0.044	T	0.067	-0.460	1.871	0.267	0.611	0.127	3.183	0.033	.	0.0004	0.00379393	0.0025	0.0002	0.0015	0	0	0.0008	0.0011	0.0137	0.0021863	338	154602	rs202138665	0.0013	0.0013	0.0009	0.0017	0.0144	0.0013	0.0012	0.0132	0.0129	0.0001	0.0011	0.0009	7.558e-05	0	0.0144	0.0004	0.0019	0.0139	0.0009	0.0009	0.0008	0.0010	0.0122	0.0008	0.0007	0.0097	0.0088	0.0002	0	0.0010	0.0014	0.0002	0	0.0034	0.0006	0.0009	0.0122	.	.	.	0.162	0.49663	T	.	.	.	.	.	.	.	.	.	.	0.999986	0.18198	N	-0.1	0.04694	N	5.65	0.00784	T	.	.	.	0.083	0.05929	-1.0062	0.28095	T	0.044	0.18948	T	7	0.0053405464	0.00117	T	.	.	.	.	.	.	.	0.222439326576	0.21863	0.027324045908993348	0.02682	0.129134376674	0.14561	.	.	.	0.003148	0.02556	T	-0.705766	0.00034	T	-0.775529	0.02591	T	0.00754381448549917	0.00087	T	0.577942	0.20808	T	0.05493229	0.10608	0.076503254	0.16951	0.05493229	0.10608	0.076503254	0.16951	-5.524	0.42092	T	.	.	0.081	0.11076	B	.;.	.;.	0.330954	0.07050	3.614	0.87258492736045823	0.17100	0.00182	0.01064	N	AEFBI	0.024155	0.01452	N	-1.00959859911021	0.08404	0.3939219	-1.05945329237375	0.08511	0.4188155	9.19863649731994E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.577349	0.28860	0	0.620846	0.47308	0	.	.	1.35	0.267	0.14876	0.021000	0.13381	.	.	0.492000	0.22399	0.002000	0.15269	0.000000	0.08366	0.005000	0.06747	0.5123:0.0:0.4877:0.0	3.183	0.06198	988	0.01987	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	4506.98	34	chr19	52504682	.	A	G	4506.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=1014;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.35;MQRankSum=-1.552e+00;QD=14.04;ReadPosRankSum=-4.090e-01;SOR=0.701	GT:AD:DP:GQ:PL	0/1:147,174:321:99:4521,0,3566	20	0	1	0
chr19	52553212	52553212	G	A	exonic	ZNF808	.	nonsynonymous SNV	ZNF808:NM_001363550:exon3:c.G89A:p.G30E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.275	B	0.132	B	.	.	1.000	P	2.2	M	5.5	T	-0.966	T	0.000	T	0.325	-1.486	0.018	-0.807	-0.085	0.507	4.306	0.067	.	0.0002	0.0213658	0.0082	0.0002	0.0002	0.1117	0	0.0002	0.0033	0.0009	0.0077231	1194	154602	rs117753855	0.0038	0.0038	0.0039	0.0037	0.1245	0.0037	0.0037	0.1216	0.1205	0.0003	0.0002	0.0010	0.1245	0	0.0010	7.914e-05	0.0061	0.0011	0.0043	0.0043	0.0038	0.0048	0.1114	0.0040	0.0039	0.1038	0.1009	0.0004	0	0.0007	0.0020	0.1114	0	0	0.0002	0.0052	0.0029	0.745	0.03642	T	0.369	0.66756	T	0.275	0.31898	B	0.132	0.33005	B	.	.	.	.	1	0.08975	P	3.095	0.87515	M	3.54	0.04799	T	-2.7	0.95216	D	0.091	0.06990	-0.9662	0.37974	T	0.000	0.00114	T	8	0.003499508	0.00062	T	.	.	.	0.067	0.19503	.	.	0.231873229951	0.22792	0.07594401887204597	0.07530	0.433995334718	0.43532	0.198149561882	0.00405	T	0.043088	0.26389	T	-0.645558	0.00077	T	-0.581944	0.14373	T	0.0426907867601745	0.04181	T	0.652935	0.50622	T	0.07684409	0.17404	0.118673846	0.28645	0.07684409	0.17403	0.118673846	0.28644	-2.866	0.08808	T	.	.	0.098	0.35288	B	.;.;.;.	.;.;.;.	-0.399900	0.02214	0.222	0.3061700874389196	0.01684	0.00128	0.00795	N	AEFBI	0.018236	0.00538	N	-1.06305331791851	0.07334	0.3403469	-1.23302865254312	0.05387	0.256558	9.45595541794732E-6	0.01202	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.57	-0.807	0.10323	-1.161000	0.03255	.	.	-0.235000	0.07621	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.4391:0.0:0.5609:0.0	4.306	0.10388	988	0.01987	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	5028.98	33	chr19	52553212	.	G	A	5028.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.685e+00;DP=1100;ExcessHet=0.0000;FS=3.214;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.92;MQRankSum=-5.330e-01;QD=12.45;ReadPosRankSum=-8.770e-01;SOR=0.852	GT:AD:DP:GQ:PL	0/1:197,207:404:99:5043,0,5130	20	0	1	0
chr19	52800055	52800055	T	C	exonic	ZNF28	.	nonsynonymous SNV	ZNF28:NM_001369762:exon3:c.A1631G:p.H544R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	.	.	1.000	N	4.17	H	-2.18	D	0.603	D	0.941	D	0.357	2.309	13.68	0.811	0.016	4.461	6.870	0.273	0.00813881553372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	.	.	.	.	0.999923	0.19486	N	3.53	0.93071	H	-2.18	0.96143	D	-7.09	0.93950	D	0.221	0.27435	0.603	0.91936	D	0.941	0.98074	D	9	0.9182922	0.91187	D	0.008139	0.21572	T	0.273	0.58883	0.765	0.89293	0.990917243681	0.99081	0.12394536942493785	0.12320	0.243668225337	0.26869	0.646200835705	0.59446	T	0.330864	0.70100	T	0.173162	0.71413	D	0.0109586	0.71045	D	0.699068133840486	0.40674	D	0.680832	0.44372	T	0.36393952	0.58134	0.28106588	0.54086	0.36393952	0.58134	0.28106588	0.54085	-11.827	0.86960	D	.	.	0.967	0.90325	P	.;.;.	.;.;.	2.171644	0.27671	17.54	0.93264423068242686	0.22959	0.42800	0.26958	N	AEFBHCI	0.416181	0.48474	N	-0.00334178984298901	0.41704	2.499303	-0.332193402128196	0.27066	1.499255	1.47016948090621E-4	0.05573	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	1.94	0.811	0.17881	0.473000	0.21843	.	.	0.486000	0.22242	0.285000	0.25187	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.2376:0.7624	6.870	0.23297	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	.	.	.	.	.	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	0.02381	4628.98	154	chr19	52800055	.	T	C	4628.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.467e+00;DP=3389;ExcessHet=0.0000;FS=4.727;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.51;MQRankSum=-1.719e+00;QD=12.82;ReadPosRankSum=-1.540e-01;SOR=0.922	GT:AD:DP:GQ:PL	0/1:173,188:361:99:4643,0,4485	20	0	1	0
chr19	54462641	54462641	G	A	exonic	LENG9	.	nonsynonymous SNV	LENG9:NM_001301782:exon1:c.C886T:p.R296C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.684	P	0.000	U	1.000	N	0.975	L	0.2	T	-0.947	T	0.127	T	0.473	2.841	15.46	1.7	0.403	2.931	8.787	0.258	0.0137087630494	7.7e-05	0.000798722	0.0004	0.0003	0	0.0046	0	0	0	0	0.000304	47	154602	rs114383943	0.0001	0.0001	0.0001	0.0001	0.0044	0.0001	0.0001	0.0038	0.0036	0.0001	0	0	0.0044	1.902e-05	0	2.698e-06	9.936e-05	2.319e-05	0.0003	0.0003	0.0003	0.0003	0.0069	0.0002	0.0002	0.0052	0.0045	0.0001	0	0	0	0.0069	0	0	0	0	0.0002	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.000307	0.45977	U	0.079389	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	0.453	0.49055	-0.9466	0.41549	T	0.127	0.43298	T	10	0.010062158	0.00225	T	0.013709	0.33318	T	.	.	.	.	0.294206760003	0.29026	0.451610044625588	0.45079	.	.	0.560456514359	0.47333	T	0.17968	0.53076	T	-0.316774	0.07165	T	-0.222673	0.52477	T	0.130237655380894	0.15404	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.285	0.51763	B	.	.	3.761929	0.53988	23.4	0.99720440658639353	0.81984	0.45875	0.27635	N	AEFDBHCI	0.223034	0.34744	N	-0.13906918872334	0.35702	2.054006	-0.282662735792849	0.28668	1.600269	0.999999999885105	0.74766	0.40479	0.06251	1	0.516746	0.08562	0	0.519653	0.09787	0	0.492483	0.08430	1	.	.	3.98	1.7	0.23359	1.453000	0.34778	.	.	0.676000	0.76740	0.407000	0.26226	1.000000	0.68203	0.001000	0.02609	0.0:0.0:0.5901:0.4099	8.787	0.33989	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1311.98	33	chr19	54462641	.	G	A	1311.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.090e-01;DP=918;ExcessHet=0.0000;FS=2.734;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.96;ReadPosRankSum=-4.340e-01;SOR=0.466	GT:AD:DP:GQ:PL	0/1:42,52:94:99:1326,0,1042	20	0	1	0
chr19	54633108	54633108	T	C	exonic	LILRB1	.	nonsynonymous SNV	LILRB1:NM_001081637:exon7:c.T1051C:p.W351R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.0	B	0.005	B	0.000	N	1.000	N	0.64	N	4.11	T	-0.937	T	0.006	T	0.074	-0.437	1.968	-4.16	-1.178	-4.299	2.666	0.016	0.000983764574232	.	.	3.295e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs765206177	1.262e-05	1.321e-05	1.117e-05	1.408e-05	0.0002	7.89e-06	6.51e-06	0.0001	8.812e-05	3.147e-05	0	0	0	0	0	0	3.399e-05	0.0002	2.098e-05	2.088e-05	2.735e-05	1.431e-05	0.0007	5.58e-06	2.55e-06	0.0002	9.61e-05	0	0	0	0	0	0	0	0	0	0.0007	0.426	0.09746	T	0.473	0.12281	T	0.0	0.02946	B	0.002	0.06944	B	0.000057	0.00387	N	14.826600	1	0.08975	N	.	.	.	4.11	0.02916	T	-1.47	0.45042	N	0.058	0.03175	-0.9373	0.43041	T	0.006	0.02168	T	10	0.032902986	0.01452	T	9.84E-4	0.01026	T	0.016	0.02506	0.42	0.46200	0.355658859761	0.35178	0.06504777047916012	0.06443	0.0951957454739	0.10748	0.260372936726	0.04935	T	0.003953	0.03423	T	-0.602758	0.00140	T	-0.799049	0.01926	T	0.0297089204965355	0.01945	T	0.0123321	0.00111	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.48827	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.464652	0.01982	0.173	0.27383360219759167	0.01357	0.00158	0.00946	N	AEFDBHCI	0.036166	0.04774	N	-2.07763132330582	0.00143	0.006134361	-2.16231796484525	0.00136	0.005972342	0.998419139002024	0.36924	0.645754	0.44609	0	0.696144	0.67643	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	2.25	-4.16	0.03606	-3.674000	0.00445	.	.	-1.333000	0.01212	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3566:0.2413:0.0:0.4021	2.666	0.04739	809	0.43032	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;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	0	0	0	0	0	0	0	1	0	0	0	0.4762	75915.23	337	chr19	54633108	.	T	G,C	75915.23	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=1.38;DP=7609;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.452,0.024;MQ=57.07;MQRankSum=-1.416e+01;QD=10.13;ReadPosRankSum=3.92;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:314,113,0:427:99:0|1:54633108_T_G:3800,0,12602,4745,12942,17687:54633108	1	0	19	0
chr19	54775321	54775321	A	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.A527G:p.K176R	.	.	422	828	43	0	229	272	0.025309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.0	B	0.001	B	.	.	1.000	N	-0.105	N	1.98	T	-1.002	T	0.021	T	0.246	-0.452	1.906	-0.528	0.045	0.507	3.540	0.018	.	.	0.0285543	.	.	.	.	.	.	.	.	0.0054941	143	26028	rs551912555	8.066e-07	3.135e-06	0	1.627e-06	1.358e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.358e-05	0	9.404e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.991	0.02359	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.98	0.21865	T	-0.69	0.19933	N	0.037	0.01135	-1.0019	0.29372	T	0.021	0.09101	T	9	0.004271269	0.00086	T	.	.	.	0.018	0.03083	.	.	0.159798565429	0.15598	0.019697881130799132	0.01922	0.286032070692	0.31010	0.328735619783	0.14742	T	0.004251	0.03660	T	-0.268425	0.11932	T	-0.62335	0.10925	T	0.097581160795981	0.12089	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.04159	B	.;.	.;.	0.196263	0.05818	2.258	0.65962790167702579	0.07922	0.00008	0.00134	N	AEFBI	0.015820	0.00321	N	-1.50332710389849	0.01828	0.08013823	-1.56523357978012	0.01873	0.08537886	1.69642889776649E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.528	0.11310	0.180000	0.16672	.	.	-1.221000	0.01338	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2906:0.0:0.7094:0.0	3.540	0.07364	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	0.1667	1345.52	392	chr19	54775321	.	A	G,*	1345.52	.	AC=1,6;AF=0.024,0.143;AN=42;BaseQRankSum=-5.880e-01;DP=7788;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=1,6;MLEAF=0.024,0.143;MQ=56.42;MQRankSum=-5.177e+00;QD=0.44;ReadPosRankSum=-1.405e+00;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:383,0,81:464:99:0|1:54775315_G_T:2248,3401,19450,0,16049,15805:54775315	14	0	1	0
chr19	54775321	54775321	A	0	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	.	.	.	.	422	828	43	0	229	272	0.025309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1345.52	392	chr19	54775321	.	A	G,*	1345.52	.	AC=1,6;AF=0.024,0.143;AN=42;BaseQRankSum=-5.880e-01;DP=7788;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=1,6;MLEAF=0.024,0.143;MQ=56.42;MQRankSum=-5.177e+00;QD=0.44;ReadPosRankSum=-1.405e+00;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:383,0,81:464:99:0|1:54775315_G_T:2248,3401,19450,0,16049,15805:54775315	14	0	1	0
chr19	54775322	54775322	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G528C:p.K176N	.	.	422	827	45	0	228	273	0.0264862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.375	B	0.035	B	.	.	1.000	N	1.405	L	1.96	T	-1.032	T	0.034	T	0.215	0.284	5.538	-0.175	0.019	-1.768	4.925	0.019	.	.	0.0201677	.	.	.	.	.	.	.	.	0.0038804	101	26028	rs142432377	2.414e-06	7.05e-06	0	4.87e-06	4.068e-05	6.4e-07	1.8e-07	1.08e-05	5e-06	0	0	0	0	0	0	0	0	4.068e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.226	0.26467	T	0.375	0.34209	B	0.035	0.22741	B	.	.	.	.	1	0.08975	N	.	.	.	1.96	0.22270	T	-0.52	0.16187	N	0.087	0.12484	-1.0322	0.19745	T	0.034	0.14509	T	9	0.004861355	0.00104	T	.	.	.	0.019	0.03383	0.372	0.38340	0.227934060464	0.22382	0.025502537409497105	0.02501	0.404161105383	0.41326	0.335895627737	0.15823	T	0.004204	0.03611	T	-0.284357	0.10210	T	-0.646235	0.09220	T	0.0611866430199818	0.07353	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.42052	B	.;.	.;.	-0.534999	0.01758	0.133	0.94203204982077993	0.24439	0.00039	0.00329	N	AEFBI	0.018778	0.00597	N	-1.06418851789445	0.07312	0.3392801	-1.222503267997	0.05550	0.2647508	1.6514964015941E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.175	0.12662	-4.523000	0.00254	.	.	-2.710000	0.00207	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5946:0.4054:0.0	4.925	0.13239	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	0.1667	1387.52	392	chr19	54775322	.	G	C,*	1387.52	.	AC=1,6;AF=0.024,0.143;AN=42;BaseQRankSum=-6.000e-02;DP=7783;ExcessHet=2.5830;FS=0.681;InbreedingCoeff=-0.2000;MLEAC=1,6;MLEAF=0.024,0.143;MQ=56.43;MQRankSum=-5.198e+00;QD=0.45;ReadPosRankSum=-1.555e+00;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:383,0,81:464:99:0|1:54775315_G_T:2248,3401,19450,0,16049,15805:54775315	14	0	1	0
chr19	54775322	54775322	G	0	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	.	.	.	.	422	827	45	0	228	273	0.0264862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1387.52	392	chr19	54775322	.	G	C,*	1387.52	.	AC=1,6;AF=0.024,0.143;AN=42;BaseQRankSum=-6.000e-02;DP=7783;ExcessHet=2.5830;FS=0.681;InbreedingCoeff=-0.2000;MLEAC=1,6;MLEAF=0.024,0.143;MQ=56.43;MQRankSum=-5.198e+00;QD=0.45;ReadPosRankSum=-1.555e+00;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:383,0,81:464:99:0|1:54775315_G_T:2248,3401,19450,0,16049,15805:54775315	14	0	1	0
chr19	55045206	55045206	G	C	exonic	RDH13	.	nonsynonymous SNV	RDH13:NM_001145971:exon7:c.C864G:p.F288L	.	.	423	1073	26	0	0	26	0.0119705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.835	P	0.19	B	0.000	D	0.782	D	1.505	L	-3.55	D	-0.027	T	0.557	D	0.631	2.288	13.61	-4.24	-0.555	-0.089	11.974	0.587	.	0.0068	0.00379393	0.0083	0.0008	0.0042	0	0.0070	0.0106	0.0079	0.0110	0.0079559	1230	154602	rs56125820	0.0093	0.0093	0.0092	0.0093	0.0144	0.0092	0.0091	0.0119	0.0110	0.0015	0.0047	0.0081	5.038e-05	0.0073	0.0144	0.0100	0.0085	0.0116	0.0068	0.0068	0.0067	0.0070	0.0122	0.0065	0.0064	0.0097	0.0090	0.0016	0	0.0069	0.0078	0	0.0090	0.0238	0.0098	0.0066	0.0122	0.011	0.57480	D	0.025	0.64786	D	0.835	0.46254	P	0.19	0.36341	B	0.000009	0.62929	D	0.112974	0.782476	0.34284	D	0.93	0.23535	L	-3.55	0.94834	D	-5.19	0.83625	D	0.444	0.48227	-0.0272	0.81690	T	0.557	0.83836	D	10	0.006888509	0.00156	T	.	.	.	0.587	0.83471	0.699	0.83592	0.736989248879	0.73463	0.7326798601072219	0.73212	0.194085872631	0.21745	0.735047757626	0.72244	T	0.171346	0.51944	T	-0.165664	0.25891	T	-0.000353042	0.70313	D	0.0759697476757848	0.09464	T	.	.	.	0.4629253	0.64853	0.45011628	0.67997	0.4629253	0.64854	0.45011628	0.67998	-8.604	0.71176	D	.	.	0.991	0.93792	P	.;.;.	.;.;.	1.844192	0.23430	16.01	0.98331568901600575	0.40348	0.62815	0.31896	D	AEFDGBCI	0.220312	0.34508	N	-0.711334249114612	0.15702	0.7936669	-0.815680504773558	0.14116	0.7359038	0.413996110449008	0.20236	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.61	-4.24	0.03519	-0.054000	0.11783	.	.	-0.208000	0.08445	0.041000	0.21027	0.000000	0.08366	0.871000	0.41478	0.8181:0.0:0.1819:0.0	11.974	0.52373	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1349.98	33	chr19	55045206	.	G	C	1349.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.16;DP=806;ExcessHet=0.0000;FS=3.684;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=-3.820e-01;SOR=0.749	GT:AD:DP:GQ:PL	0/1:49,53:102:99:1364,0,1054	20	0	1	0
chr19	55358524	55358524	C	0	exonic	FAM71E2	.	.	.	.	.	438	22	102	3	957	1065	0.710526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	1402.14	99	chr19	55358524	.	C	*,T	1402.14	.	AC=39,1;AF=0.929,0.024;AN=42;DP=2198;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=39,1;MLEAF=0.929,0.024;MQ=60.00;QD=0.80;SOR=0.839	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,97,0:97:99:.:.:4319,298,0,4319,298,4319	0	18	2	0
chr19	55358535	55358535	T	0	exonic	FAM71E2	.	.	.	.	.	454	13	102	3	950	1058	0.80597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	1530.14	99	chr19	55358535	.	T	*,C	1530.14	.	AC=39,1;AF=0.929,0.024;AN=42;DP=2199;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=39,1;MLEAF=0.929,0.024;MQ=60.00;QD=0.88;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,97,0:97:99:.:.:4319,298,0,4319,298,4319	0	18	2	0
chr19	56190112	56190112	G	T	exonic	ZSCAN5B	.	nonsynonymous SNV	ZSCAN5B:NM_001080456:exon5:c.C1203A:p.H401Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	.	.	0.973	D	3.955	H	-2.18	D	0.699	D	0.828	D	0.601	1.648	11.47	2.09	0.666	0.243	8.113	0.462	0.00171614023959	.	.	8.278e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs754994212	3.284e-05	3.283e-05	3.267e-05	3.301e-05	0.0002	2.543e-05	2.249e-05	3.085e-05	2.753e-05	0	0	0	0	0	0.0002	4.047e-05	3.312e-05	0	2.628e-05	2.627e-05	0	5.38e-05	0.0003	8.14e-06	5.14e-06	8.881e-05	5.389e-05	0	0	0.0003	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	0.973357	0.39017	D	4.015	0.96844	H	-2.18	0.86722	D	-7.89	0.96166	D	0.597	0.61680	0.699	0.93157	D	0.828	0.94235	D	9	0.9045203	0.89816	D	0.001716	0.02856	T	0.462	0.75889	0.762	0.89053	0.59202398213	0.58879	0.4646484738264827	0.46383	0.0987769954681	0.11157	0.816955804825	0.84560	D	0.270112	0.64236	T	0.163663	0.70539	D	-0.00268536	0.70161	D	0.991000354290009	0.81251	D	0.731927	0.34732	T	0.68856055	0.77433	0.5774306	0.75515	0.68856055	0.77435	0.5774306	0.75516	-13.422	0.91026	D	.	.	0.993	0.96107	P	.;.	.;.	3.631841	0.51449	23.1	0.97376236395424198	0.33647	0.64024	0.32274	D	AEFGBHCI	0.210301	0.33621	N	0.20927840731715	0.51648	3.34445	-0.0678840144528043	0.36726	2.141042	2.19050155789655E-4	0.05997	0.554377	0.28877	0	0.588066	0.40923	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	3.15	2.09	0.26154	3.530000	0.53294	.	.	0.373000	0.20310	1.000000	0.71638	0.000000	0.08366	0.161000	0.20682	0.1285:0.0:0.8715:0.0	8.113	0.30086	922	0.19044	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	0	0	0	0	0	0	0	0	0	0	0	0.02381	3094.98	33	chr19	56190112	.	G	T	3094.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.415e+00;DP=1011;ExcessHet=0.0000;FS=2.098;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.00;ReadPosRankSum=0.199;SOR=0.838	GT:AD:DP:GQ:PL	0/1:132,126:258:99:3109,0,3415	20	0	1	0
chr19	57444856	57444856	C	T	exonic	ZNF749	.	nonsynonymous SNV	ZNF749:NM_001321953:exon2:c.C1447T:p.H483Y	.	.	.	.	.	.	.	.	.	.	.	3351278	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.28	T	0.0	B	0.0	B	.	.	1.000	N	1.08	L	2.43	T	-0.997	T	0.028	T	0.048	-2.449	0.003	-3.26	-1.058	-1.056	7.962	0.013	0.000649139277566	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1253828045	4.788e-06	4.788e-06	4.084e-06	5.5e-06	2.519e-05	1.99e-06	1.28e-06	3.85e-06	1.44e-06	0	0	0	2.519e-05	0	0	3.597e-06	0	2.319e-05	3.286e-05	3.284e-05	3.855e-05	2.69e-05	9.652e-05	1.261e-05	7.98e-06	3.249e-05	1.915e-05	9.652e-05	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	0.075	0.42794	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.45	0.12780	N	2.43	0.15261	T	-1.04	0.27259	N	0.091	0.06990	-0.9970	0.30755	T	0.028	0.11971	T	9	0.048022777	0.04197	T	6.49E-4	0.00350	T	0.013	0.01715	0.297	0.26202	0.166414681773	0.16258	0.018526516939350132	0.01806	0.034493369384	0.03626	0.351287454367	0.18111	T	0.00771	0.07099	T	-0.546974	0.00304	T	-0.854339	0.00907	T	0.0186015500843346	0.00574	T	0.0108989	0.00060	T	0.027277723	0.01897	0.044384073	0.05739	0.027277723	0.01897	0.044384073	0.05739	-7.018	0.54165	T	.	.	0.116	0.23395	B	.	.	-0.892190	0.00939	0.036	0.26461858074085032	0.01268	0.00622	0.02746	N	AEFBI	.	.	.	-1.56647479125441	0.01441	0.06284198	-1.68783152722817	0.01192	0.05365433	0.0113582844793962	0.12171	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.78	-3.26	0.04750	-2.253000	0.01266	.	.	-1.705000	0.00752	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.726:0.0:0.274	7.962	0.29238	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2337.98	64	chr19	57444856	.	C	T	2337.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.096e+00;DP=1360;ExcessHet=0.0000;FS=3.992;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=0.504;SOR=0.481	GT:AD:DP:GQ:PL	0/1:105,96:201:99:2352,0,2713	20	0	1	0
chr19	58212452	58212452	A	G	exonic	ZNF274	.	nonsynonymous SNV	ZNF274:NM_016324:exon5:c.A956G:p.N319S	.	.	426	1078	16	0	2	18	0.00736648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	T	0.473	P	0.088	B	0.274	N	1.000	N	.	.	3.41	T	-1.002	T	0.008	T	0.033	-2.272	0.004	-0.47	-1.858	-0.241	.	0.024	0.00918949002761	0.0010	0.000998403	0.0010	0.0002	0.0008	0	0	0.0012	0.0011	0.0016	0.0009444	146	154602	rs190213013	0.0014	0.0014	0.0013	0.0014	0.0068	0.0013	0.0013	0.0051	0.0045	0.0003	0.0009	0	0	1.876e-05	0.0068	0.0015	0.0018	0.0016	0.0010	0.0010	0.0011	0.0009	0.0015	0.0009	0.0008	0.0013	0.0012	0.0002	0.0220	0.0009	0	0	0	0	0.0015	0.0009	0.0015	.	.	.	1.0	0.01155	T	0.473	0.36591	P	0.088	0.29688	B	0.274199	0.03791	N	1.646620	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.011	0.00445	-1.0017	0.29430	T	0.008	0.02760	T	8	0.004541546	0.00094	T	0.009189	0.24154	T	0.024	0.04979	.	.	0.207176502487	0.20327	0.042041687510274914	0.04149	0.235332845833	0.26065	0.206556916237	0.00673	T	0.026574	0.19638	T	-0.675816	0.00051	T	-0.75677	0.03230	T	0.0034575339530296	0.00036	T	0.463454	0.13490	T	0.033697676	0.03639	0.04140205	0.04698	0.033697676	0.03638	0.04140205	0.04697	-5.31	0.43228	T	.	.	0.103	0.35288	B	.;.;.;.;.	.;.;.;.;.	-0.826013	0.01057	0.046	0.22980009723723005	0.00950	0.00068	0.00484	N	AEFDBHCI	0.031618	0.03417	N	-1.72447613793533	0.00758	0.03275647	-1.87319309313305	0.00552	0.02450146	0.176455474352768	0.17811	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	0.235	-0.47	0.11525	-0.130000	0.10477	-0.833000	0.07248	-0.462000	0.05112	0.000000	0.06391	0.009000	0.19889	0.031000	0.13245	.	.	.	964	0.07719	.;.;.;.;.	.	.	.	.	.	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	0.04762	3817.11	34	chr19	58212452	.	A	G	3817.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.04;DP=1073;ExcessHet=0.1072;FS=2.683;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.59;ReadPosRankSum=0.899;SOR=0.561	GT:AD:DP:GQ:PL	0/1:136,76:212:99:1797,0,3288	19	0	2	0
chr20	3218622	3218622	G	C	exonic	ITPA	.	nonsynonymous SNV	ITPA:NM_001267623:exon4:c.G278C:p.G93A	Epileptic encephalopathy, early infantile, 35, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.01	M	.	.	0.201	D	0.548	D	0.953	4.315	22.6	5.8	2.749	7.772	15.547	0.752	0.0375793919935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.035	0.57104	D	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.4	0.91674	M	.	.	.	-5.82	0.88289	D	0.965	0.97535	0.201	0.85918	D	0.548	0.83393	D	9	0.98191226	0.98241	D	0.037579	0.57701	D	0.752	0.91498	0.877	0.96683	0.699967871901	0.69737	0.9429938801798265	0.94281	1.03381354485	0.75508	0.592211425304	0.51807	T	0.899353	0.98014	D	0.48318	0.93811	D	0.456278	0.93732	D	0.998660445213318	0.94798	D	0.971503	0.89686	D	0.8720203	0.89022	0.8854587	0.93945	0.8720203	0.89023	0.8854587	0.93945	-8.778	0.70803	D	0.5758557210943188	0.64283	0.794	0.77025	P	.;.;.	.;.;.	4.919242	0.81005	27.4	0.99741210550207937	0.83482	0.82801	0.41980	D	ALL	0.944576	0.95184	D	0.878728482268401	0.90678	10.51482	0.805647483856903	0.90185	10.29292	1.0	0.98316	0.77792	0.99625	0	0.779548	0.99637	0	0.854111	0.99894	0	0.691587	0.68394	0	.	.	5.8	5.8	0.92081	7.973000	0.87648	11.450000	0.92794	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.289000	0.24236	0.0:0.0:1.0:0.0	15.547	0.75846	524	0.74079	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1454.98	33	chr20	3218622	.	G	C	1454.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.850e-01;DP=847;ExcessHet=0.0000;FS=0.615;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.15;ReadPosRankSum=-1.180e-01;SOR=0.604	GT:AD:DP:GQ:PL	0/1:97,62:159:99:1469,0,2627	20	0	1	0
chr20	3803192	3803192	G	C	exonic	CDC25B	.	nonsynonymous SNV	CDC25B:NM_001287524:exon9:c.G766C:p.G256R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.805	M	1.81	T	-0.672	T	0.200	T	0.989	4.476	23.9	5.24	2.630	7.128	16.698	0.774	0.123202022054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0011	0.0007	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0006	0	0.0002	7.607e-05	0	0.0002	0.0008	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.085	0.87354	M	1.81	0.25182	T	-7.58	0.95276	D	0.931	0.98268	-0.6717	0.61752	T	0.200	0.55640	T	10	0.98157537	0.98189	D	0.123202	0.80433	D	0.774	0.92419	0.92	0.98568	0.736929849786	0.73457	0.9132364924811667	0.91297	2.14713465814	0.95289	0.696103453636	0.66582	T	0.201973	0.83660	T	0.280949	0.81396	D	0.165788	0.81157	D	0.999002754688263	0.95858	D	0.989968	0.96869	D	0.92810935	0.94047	0.8602535	0.92196	0.92810935	0.94048	0.8602535	0.92197	-11.248	0.81537	D	.	.	0.994	0.95995	P	.;.;.;.;.	.;.;.;.;.	5.603180	0.92472	32	0.99900572155913103	0.97275	0.97177	0.73143	D	AEFGBCI	0.864053	0.78274	D	0.851518238386656	0.89196	9.872593	0.791774268680612	0.89217	9.884684	0.999999999996727	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	7.420000	0.79394	11.730000	0.94979	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0:0.0:1.0:0.0	16.698	0.85199	809	0.43032	Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	3189.23	101	chr20	3803192	.	G	C	3189.23	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-1.821e+00;DP=2547;ExcessHet=20.9642;FS=188.196;InbreedingCoeff=-0.6177;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=1.88;ReadPosRankSum=1.63;SOR=13.596	GT:AD:DP:GQ:PL	0/1:89,47:152:99:238,0,1511	5	0	16	0
chr20	23035511	23035511	G	T	exonic	SSTR4	.	nonsynonymous SNV	SSTR4:NM_001052:exon1:c.G28T:p.G10W,	.	.	417	1072	31	2	0	35	0.0160624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.888	P	0.186	B	0.014	U	1.000	N	0	N	-0.31	T	-0.956	T	0.109	T	0.235	1.092	9.458	0.012	-0.186	0.136	1.229	0.111	.	0.0010	0.00579073	0.0101	0.0013	0.0005	0.0003	0.0129	0.0045	0.0118	0.0364	0.0038486	595	154602	rs200128778	0.0027	0.0027	0.0020	0.0033	0.0229	0.0026	0.0026	0.0220	0.0217	0.0002	0.0006	0.0002	0.0001	0.0037	0.0116	0.0013	0.0028	0.0229	0.0018	0.0018	0.0018	0.0018	0.0181	0.0016	0.0016	0.0150	0.0139	0.0002	0	0.0003	0.0003	0	0.0037	0.0171	0.0018	0.0019	0.0181	0.009	0.57480	D	0.032	0.53426	D	0.888	0.48822	P	0.186	0.36104	B	0.014314	0.01387	U	3.839660	1	0.08975	N	0.695	0.17993	N	-0.31	0.68030	T	0.7	0.02163	N	0.396	0.43706	-0.9558	0.39952	T	0.109	0.39439	T	10	0.004093647	0.00080	T	.	.	.	0.111	0.31313	.	.	0.520963378925	0.51741	0.32484460145015054	0.32397	0.51393972005	0.49362	0.719942033291	0.70038	T	0.047282	0.27676	T	-0.486337	0.00681	T	-0.453781	0.27279	T	0.010656141811405	0.00149	T	0.416558	0.10945	T	0.04749387	0.08127	0.057956647	0.10629	0.04749387	0.08127	0.057956647	0.10628	-4.25	0.27470	T	.	.	0.145	0.31882	B	.	.	1.310436	0.17132	12.98	0.7811163771348596	0.12160	0.02511	0.07006	N	AEFDBI	0.104038	0.20828	N	-0.972582954969699	0.09193	0.4340507	-1.09379127734444	0.07822	0.3820119	0.989063552908199	0.31712	0.59774	0.34471	0	0.59043	0.45803	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.39	0.012	0.13411	-0.117000	0.10681	0.360000	0.17566	-0.261000	0.06906	0.000000	0.06391	0.001000	0.17328	0.001000	0.02609	0.1881:0.131:0.3713:0.3096	1.229	0.01821	862	0.33134	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	582.98	29	chr20	23035511	.	G	T	582.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.89;DP=747;ExcessHet=0.0000;FS=1.547;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.66;ReadPosRankSum=-1.830e-01;SOR=0.361	GT:AD:DP:GQ:PL	0/1:15,20:35:99:597,0,344	20	0	1	0
chr20	25675213	25675213	C	T	exonic	ZNF337	.	nonsynonymous SNV	ZNF337:NM_001290261:exon4:c.G2075A:p.R692Q	.	.	427	1083	12	0	0	12	0.00550964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.231	B	0.012	B	.	.	1.000	N	1.025	L	2.18	T	-1.012	T	0.030	T	0.166	3.693	18.76	0.977	0.833	3.853	3.301	0.113	0.0117906480904	0.0029	0.000599042	0.0023	0.0003	0.0015	0	0.0021	0.0034	0.0011	0.0007	0.0023221	359	154602	rs146305250	0.0030	0.0030	0.0030	0.0030	0.0073	0.0029	0.0029	0.0055	0.0049	0.0005	0.0019	0.0024	0	0.0029	0.0073	0.0035	0.0024	0.0006	0.0025	0.0025	0.0024	0.0026	0.0054	0.0023	0.0022	0.0045	0.0041	0.0006	0.0110	0.0054	0.0017	0	0.0031	0.0170	0.0031	0.0019	0.0006	0.004	0.65419	D	0.003	0.76473	D	0.231	0.30614	B	0.012	0.16012	B	.	.	.	.	1	0.08975	N	0.36	0.11994	N	2.18	0.18875	T	-0.93	0.24898	N	0.055	0.02658	-1.0125	0.26133	T	0.030	0.13023	T	9	0.0051144958	0.00111	T	0.011791	0.29763	T	0.113	0.31778	.	.	0.369682402691	0.36581	0.011609023365672221	0.01120	0.236008608382	0.26139	0.304093897343	0.11015	T	0.004166	0.03571	T	-0.56131	0.00249	T	-0.576725	0.14838	T	0.0477000452076303	0.05090	T	0.806719	0.45571	T	0.047053248	0.07978	0.043350942	0.05373	0.047053248	0.07978	0.043350942	0.05373	-5.113	0.38044	T	.	.	0.155	0.34667	B	.;.	.;.	2.583652	0.33503	19.36	0.99861002336505478	0.93911	0.02492	0.06971	N	AEFBCI	0.017581	0.00471	N	-0.515507597303344	0.21577	1.146199	-0.549320157476918	0.20825	1.12372	0.75303504488105	0.23391	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	0.977	0.977	0.18853	3.029000	0.49397	-5.595000	0.01662	-0.359000	0.05516	0.961000	0.33663	0.000000	0.08366	0.108000	0.18652	0.0:0.7131:0.0:0.2869	3.301	0.06571	730	0.54327	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	0	0	0	0	0	0	0	1	0	0	0	0.02381	2583.98	44	chr20	25675213	.	C	T	2583.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=900;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.79;ReadPosRankSum=0.359;SOR=0.655	GT:AD:DP:GQ:PL	0/1:101,101:202:99:2598,0,2453	20	0	1	0
chr20	32202085	32202085	G	A	exonic	PLAGL2	.	nonsynonymous SNV	PLAGL2:NM_002657:exon2:c.C94T:p.R32W,	.	.	418	1076	25	3	0	31	0.0142006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.004	B	0.001	B	0.005	N	0.998	D	2.38	M	2.94	T	-1.117	T	0.029	T	0.312	2.537	14.44	4.55	2.334	2.679	12.653	0.100	0.00458705544387	0.0038	0.00239617	0.0041	0.0009	0.0081	0	0.0009	0.0052	0.0077	0.0024	0.0041526	642	154602	rs61757724	0.0041	0.0041	0.0040	0.0042	0.0612	0.0040	0.0040	0.0559	0.0539	0.0016	0.0081	0.0214	0	0.0009	0.0612	0.0036	0.0062	0.0027	0.0039	0.0039	0.0041	0.0037	0.0078	0.0036	0.0035	0.0066	0.0062	0.0012	0	0.0078	0.0248	0	0.0008	0.0408	0.0042	0.0114	0.0021	0.001	0.78490	D	0.003	0.76473	D	0.004	0.12183	B	0.001	0.04355	B	0.004726	0.33446	N	0.247205	0.998256	0.44686	D	1.985	0.53793	M	2.94	0.09728	T	-2.08	0.47514	N	0.18	0.19459	-1.1170	0.02531	T	0.029	0.12278	T	10	0.0054250658	0.00119	T	0.004587	0.11346	T	0.100	0.28662	.	.	0.283272178027	0.27931	0.4715079500319667	0.47069	1.22552299386	0.81193	0.607366800308	0.53944	T	0.322051	0.69309	T	-0.48518	0.00691	T	-0.465419	0.26011	T	0.0339372128530797	0.02626	T	0.948305	0.80045	D	0.17089964	0.37691	0.18740055	0.41970	0.17089964	0.37691	0.18740055	0.41969	-5.061	0.37495	T	.	.	0.231	0.46436	B	.	.	4.882313	0.80089	27.2	0.99842226990161198	0.92229	0.84030	0.43117	D	AEFDBHCI	0.625868	0.60891	D	0.0630722678816561	0.44747	2.74306	0.17498620202881	0.48480	3.063401	0.999999999793743	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.55	4.55	0.55429	4.217000	0.58344	11.865000	0.98423	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.1804:0.8195:0.0	12.653	0.56136	365	0.84644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1191.98	34	chr20	32202085	.	G	A	1191.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.37;DP=846;ExcessHet=0.0000;FS=3.197;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.88;MQRankSum=-1.276e+00;QD=8.76;ReadPosRankSum=-1.266e+00;SOR=1.004	GT:AD:DP:GQ:PL	0/1:85,51:136:99:1206,0,2130	20	0	1	0
chr20	34852409	34852409	G	C	exonic	GGT7	.	nonsynonymous SNV	GGT7:NM_001351702:exon11:c.C1449G:p.D483E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.998	D	0.000	D	1.000	D	1.935	M	1.98	T	-1.040	T	0.128	T	0.791	4.250	22.1	6.17	2.941	5.778	13.996	0.296	0.0112495980913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	6.02e-05	1.362e-06	5.502e-06	2.988e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	2.988e-05	0	0	0	0	0	3.599e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.012	0.63918	D	0.994	0.66517	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	0.999841	0.49770	D	2.215	0.62545	M	1.98	0.21865	T	-1.73	0.41046	N	0.499	0.53181	-1.0404	0.17192	T	0.128	0.43585	T	10	0.5826987	0.65938	D	0.01125	0.28682	T	0.296	0.61616	0.689	0.82653	0.228066490088	0.22430	0.82941257752094	0.82899	0.68760950996	0.60391	0.738000631332	0.72679	T	0.103498	0.41220	T	0.0708259	0.60949	D	-0.13604	0.60460	T	0.885277701002196	0.53559	D	0.910309	0.68205	D	0.41792053	0.61953	0.41181666	0.65402	0.41792053	0.61953	0.41181666	0.65402	-4.579	0.31907	T	.	.	0.782	0.76474	P	.	.	5.638633	0.92727	33	0.99733629509333355	0.82975	0.97405	0.74540	D	AEFDBI	0.720442	0.67100	D	0.820974805350757	0.87399	9.204616	0.835720227276759	0.92153	11.26631	0.92021159446374	0.26625	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	6.17	6.17	0.99707	4.488000	0.60028	9.966000	0.82830	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0685:0.0:0.9315:0.0	13.996	0.63912	522	0.74218	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4524	4553.08	146	chr20	34852409	.	G	C	4553.08	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-3.218e+00;DP=3222;ExcessHet=36.0830;FS=276.126;InbreedingCoeff=-0.8285;MLEAC=19;MLEAF=0.452;MQ=60.00;MQRankSum=0.00;QD=1.76;ReadPosRankSum=0.755;SOR=12.688	GT:AD:DP:GQ:PL	0/1:99,67:175:99:460,0,1614	2	0	19	0
chr20	35044539	35044539	C	G	exonic	TRPC4AP	.	nonsynonymous SNV	TRPC4AP:NM_015638:exon7:c.G831C:p.L277F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.855	P	0.271	B	0.006	N	1.000	D	0	N	.	.	-1.079	T	0.059	T	0.164	2.561	14.52	3.75	1.438	0.769	8.098	0.053	0.00220256632883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.40068	D	0.155	0.31936	T	0.855	0.47121	P	0.271	0.39904	B	0.005614	0.32654	N	0.288169	0.910872	0.36408	D	1.245	0.31408	L	.	.	.	-0.26	0.11185	N	0.367	0.40864	-1.0792	0.07504	T	0.059	0.24612	T	9	0.11071941	0.20704	T	0.002203	0.04151	T	0.053	0.14996	0.129	0.03412	0.0675242888579	0.06100	0.1543754583860959	0.15358	0.578774077322	0.53773	0.602287828922	0.53227	T	0.029251	0.21004	T	-0.11276	0.34315	T	-0.399749	0.33415	T	0.497914224863052	0.32553	T	0.846915	0.52723	T	0.09514198	0.22385	0.0881565	0.20536	0.09514198	0.22385	0.0881565	0.20536	-4.655	0.33149	T	.	.	0.103	0.18247	B	.;.	.;.	3.287922	0.45079	22.1	0.99553085967798949	0.71273	0.90089	0.50997	D	AEFBI	0.166909	0.29354	N	-0.0571849634062739	0.39282	2.313983	0.0791077866325898	0.43499	2.650414	0.0107750004223221	0.12079	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.74	3.75	0.42236	0.982000	0.29137	3.972000	0.40833	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1299:0.734:0.0:0.136	8.098	0.30001	611	0.66908	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	481.98	33	chr20	35044539	.	C	G	481.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.79;DP=761;ExcessHet=0.0000;FS=3.652;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.53;ReadPosRankSum=0.785;SOR=1.197	GT:AD:DP:GQ:PL	0/1:42,22:64:99:496,0,991	20	0	1	0
chr20	37931788	37931788	C	T	exonic	VSTM2L	.	nonsynonymous SNV	VSTM2L:NM_080607:exon2:c.C275T:p.A92V,	.	.	423	1026	69	4	0	77	0.0361672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.355	B	0.071	B	0.000	D	1.000	N	1.32	L	1.68	T	-0.878	T	0.122	T	0.221	2.322	13.72	3.71	1.070	3.699	14.315	0.032	.	0.0042	0.0117812	0.0098	0.0019	0.0023	0.0004	0.0057	0.0045	0.0149	0.0471	0.0085381	1320	154602	rs146022041	0.0061	0.0061	0.0047	0.0075	0.0485	0.0060	0.0060	0.0472	0.0467	0.0024	0.0018	0.0047	0.0001	0.0059	0.0165	0.0033	0.0072	0.0485	0.0048	0.0049	0.0037	0.0060	0.0478	0.0045	0.0044	0.0427	0.0408	0.0018	0.0044	0.0025	0.0061	0	0.0065	0.0204	0.0041	0.0047	0.0478	0.269	0.17468	T	0.25	0.23707	T	0.355	0.33731	B	0.071	0.27960	B	0.000401	0.44736	D	0.226724	1	0.81001	D	0.895	0.22405	L	-0.12	0.64630	T	-1.41	0.45222	N	0.437	0.47580	-0.8785	0.49880	T	0.122	0.42441	T	10	0.0047867894	0.00101	T	.	.	.	0.032	0.07718	.	.	0.26169431596	0.25797	0.13540269107496228	0.13464	0.217275047977	0.24248	0.488715529442	0.37260	T	0.017388	0.14198	T	-0.459898	0.00985	T	-0.39908	0.33492	T	0.0156149174097317	0.00357	T	0.877312	0.59062	D	0.119384415	0.28111	0.15047161	0.35486	0.119384415	0.28111	0.15047161	0.35485	-6.433	0.49767	T	.	.	0.115	0.22897	B	.;.	.;.	3.914083	0.57101	23.8	0.98953576036538993	0.49189	0.97240	0.73520	D	AEFDGBI	0.603113	0.59472	D	-0.174269650302517	0.34209	1.949822	-0.0849837739291406	0.36010	2.090288	0.999998422191381	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	4.66	3.71	0.41733	3.815000	0.55355	3.908000	0.40392	0.537000	0.25018	0.996000	0.39380	0.999000	0.35428	0.817000	0.38496	0.0:0.8506:0.1494:0.0	14.315	0.65999	843	0.36859	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	5312.66	41	chr20	37931788	.	C	T	5312.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.02;DP=923;ExcessHet=0.0000;FS=5.274;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=21.95;ReadPosRankSum=0.185;SOR=1.057	GT:AD:DP:GQ:PL	1/1:0,129:129:99:4080,386,0	19	1	1	0
chr20	38497424	38497424	A	G	exonic	RALGAPB	.	nonsynonymous SNV	RALGAPB:NM_001282917:exon4:c.A461G:p.E154G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.59	P	0.275	B	0.000	D	1.000	D	1.555	L	-0.07	T	-0.786	T	0.212	T	0.631	3.317	17.15	5.32	2.004	9.089	15.319	0.253	0.0347406351716	0.0002	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376920561	1.095e-05	1.095e-05	1.089e-05	1.1e-05	1.439e-05	6.48e-06	5.25e-06	8.52e-06	6.89e-06	0	0	0	0	0	0	1.439e-05	0	0	3.287e-05	3.284e-05	6.426e-05	0	5.882e-05	1.261e-05	7.98e-06	1.972e-05	1.125e-05	2.414e-05	0	0	0	0	0	0	5.882e-05	0	0	0.494	0.07895	T	0.411	0.14500	T	0.447	0.36006	B	0.168	0.35187	B	0.000002	0.62929	D	0.100373	1	0.81001	D	1.39	0.34934	L	-0.07	0.63738	T	-1.92	0.44657	N	0.674	0.68690	-0.7859	0.55967	T	0.212	0.57321	T	10	0.46004295	0.59228	T	0.034741	0.55878	D	0.253	0.56294	.	.	0.15499578495	0.15088	0.380808061166969	0.37995	1.03285227811	0.75478	0.6066583395	0.53844	T	0.054125	0.29635	T	0.0640633	0.60119	T	-0.130268	0.60949	T	0.77552193403244	0.44774	D	0.931907	0.74605	D	0.17901613	0.38952	0.15158099	0.35700	0.17901613	0.38951	0.15158099	0.35699	-9.597	0.71461	D	.	.	0.313	0.53989	B	.;.;.	.;.;.	4.538655	0.71321	25.7	0.99791897088501891	0.87750	0.99570	0.97553	D	AEFDBIJ	0.854658	0.77170	D	0.295297329439441	0.55911	3.755122	0.417932989800249	0.62682	4.487785	0.999999997091574	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.32	5.32	0.75377	9.078000	0.93430	11.194000	0.88775	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.319	0.73814	855	0.34697	.;.;.	.	.	.	.	.	Uncertain significance	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	0.1667	341.57	131	chr20	38497424	.	A	G	341.57	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-3.982e+00;DP=1625;ExcessHet=2.5830;FS=165.447;InbreedingCoeff=-0.2003;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=0.42;ReadPosRankSum=-1.800e-01;SOR=9.953	GT:AD:DP:GQ:PL	0/1:99,27:126:33:33,0,1909	14	0	7	0
chr20	41100210	41100210	T	C	exonic	TOP1	.	nonsynonymous SNV	TOP1:NM_003286:exon12:c.T1130C:p.I377T,	DNA topoisomerase I, camptothecin-resistant (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.82	M	0.56	T	-0.099	T	0.396	T	0.851	4.753	26.6	5.27	2.134	8.040	15.488	0.574	0.0834407527716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.476e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.385	0.91502	M	0.56	0.54540	T	-3.32	0.66085	D	0.82	0.81559	-0.0985	0.80132	T	0.396	0.74836	T	10	0.9008926	0.89450	D	0.083441	0.74116	D	0.574	0.82742	0.722	0.85673	0.540554013241	0.53707	0.9560339756758913	0.95588	2.80145084336	0.98906	0.859892368317	0.91094	D	0.433276	0.78076	T	0.277652	0.81115	D	0.161051	0.80870	D	0.990620062547804	0.80840	D	0.893211	0.63049	D	0.72673106	0.79539	0.6802238	0.81211	0.72673106	0.79541	0.6802238	0.81212	-7.188	0.55395	T	0.21552924678770424	0.28978	0.700	0.72976	P	.	.	4.638435	0.73819	26.1	0.99864711876054513	0.94276	0.99367	0.95101	D	AEFDBIJ	0.901728	0.84877	D	0.864122058876594	0.89897	10.16446	0.811333328112474	0.90570	10.46782	0.99999999931251	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	8.017000	0.88732	7.929000	0.74923	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.488	0.75314	921	0.19240	DNA topoisomerase I, DNA binding, eukaryotic-type|DNA topoisomerase I, eukaryotic-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	69.59	45	chr20	41100210	.	T	C	69.59	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-1.482e+00;DP=972;ExcessHet=1.7912;FS=83.153;InbreedingCoeff=-0.1659;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=0.27;ReadPosRankSum=0.377;SOR=8.550	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:49,10:59:5:.:.:5,0,1023	15	0	6	0
chr20	47651122	47651122	A	0	exonic	NCOA3	.	.	.	.	.	356	888	231	20	27	298	0.132389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	4251.95	38	chr20	47651122	.	A	G,*	4251.95	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=-1.168e+00;DP=1198;ExcessHet=0.6776;FS=2.493;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=8.68;ReadPosRankSum=1.98;SOR=0.529	GT:AD:DP:GQ:PL	0/2:83,0,47:130:99:1492,1604,4780,0,3136,3141	17	0	3	0
chr20	50750171	50750171	T	C	exonic	PARD6B	.	nonsynonymous SNV	PARD6B:NM_032521:exon3:c.T802C:p.S268P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.223	B	0.093	B	0.000	D	1.000	D	1.81	L	2.21	T	-1.128	T	0.051	T	0.89	2.318	13.71	5.82	2.228	7.625	16.183	0.209	0.0226631070282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.29420	T	0.08	0.41913	T	0.223	0.30377	B	0.093	0.30104	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.32	0.66415	M	2.21	0.18414	T	-2.7	0.57599	D	0.684	0.69037	-1.1277	0.01896	T	0.051	0.21495	T	10	0.5256289	0.62892	D	0.022663	0.45569	T	0.209	0.49871	0.214	0.13354	0.745170153578	0.74287	0.523658265390033	0.52289	0.470541618143	0.46329	0.596136331558	0.52359	T	0.11274	0.42924	T	0.184303	0.72438	D	0.0269623	0.72082	D	0.861137747764587	0.51155	D	0.661834	0.27067	T	0.70549875	0.78359	0.5415786	0.73505	0.70549875	0.78360	0.5415786	0.73506	-5.736	0.44013	T	.	.	0.181	0.39442	B	.	.	3.421107	0.47502	22.5	0.99261729522617614	0.57222	0.96465	0.69273	D	AEFDGBCI	0.945510	0.95389	D	0.10703062561403	0.46790	2.914067	0.222889856785486	0.51120	3.297325	0.999999999999999	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.63947	0.58350	0	.	.	5.82	5.82	0.92740	7.602000	0.82038	7.857000	0.71250	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.323000	0.25040	0.0:0.0:0.0:1.0	16.183	0.81741	859	0.33891	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2633.98	45	chr20	50750171	.	T	C	2633.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.084;DP=873;ExcessHet=0.0000;FS=0.619;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.33;ReadPosRankSum=-1.182e+00;SOR=0.762	GT:AD:DP:GQ:PL	0/1:56,96:152:99:2648,0,1441	20	0	1	0
chr20	51516834	51516834	C	G	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.G1222C:p.G408R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.035	M	-0.72	T	0.381	D	0.611	D	0.955	5.001	29.4	5.25	2.455	7.813	18.871	0.887	0.291469148357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.619e-05	0.0007	0.0001	7.042e-05	0.0001	8.278e-05	7.817e-05	9.981e-05	9.381e-05	6.002e-05	0	0	5.044e-05	0	0	0.0001	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.9	0.83903	M	-0.72	0.72994	T	-7.31	0.94511	D	0.952	0.97095	0.381	0.88810	D	0.611	0.86246	D	10	0.92848086	0.92191	D	0.291469	0.90578	D	0.887	0.96725	0.754	0.88402	0.90210233382	0.90113	0.8239515636362394	0.82352	1.30562062205	0.83120	0.866135060787	0.92011	D	0.671936	0.90273	D	0.39566	0.89663	D	0.330562	0.89533	D	0.997253000736237	0.91125	D	0.999394	0.99801	D	0.9024346	0.91602	0.87273586	0.93055	0.9024346	0.91603	0.87273586	0.93056	-12.284	0.86643	D	.	.	1.0	0.99952	P	.;.;.;.;.;.	.;.;.;.;.;.	5.540515	0.91959	32	0.99941663280488358	0.99797	0.98728	0.86094	D	AEFDBHI	0.897828	0.84044	D	0.916431156634983	0.92541	11.483	0.851822094425726	0.93121	11.83822	0.999999999999247	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.25	5.25	0.73169	7.900000	0.86025	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:1.0:0.0:0.0	18.871	0.92287	957	0.09725	.;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3182	1110.73	33	chr20	51516834	.	C	G	1110.73	.	AC=7;AF=0.318;AN=22;BaseQRankSum=-1.139e+00;DP=1283;ExcessHet=2.5830;FS=294.373;InbreedingCoeff=-0.4045;MLEAC=10;MLEAF=0.455;MQ=60.00;MQRankSum=0.00;QD=2.00;ReadPosRankSum=-4.600e-02;SOR=10.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:64,40:106:99:.:.:248,0,1137	4	0	7	10
chr20	53255698	53255698	C	T	exonic	TSHZ2	.	nonsynonymous SNV	TSHZ2:NM_001193421:exon2:c.C2231T:p.T744I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.001	B	0.002	B	0.942	N	1.000	N	1.245	L	1.31	T	-0.999	T	0.100	T	0.177	-0.335	2.413	5.08	2.356	2.422	18.484	0.092	0.0107936018733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.24857	T	0.236	0.24767	T	0.001	0.07471	B	0.002	0.06944	B	0.941578	0.08350	N	0.976149	1	0.08975	N	1.445	0.36358	L	1.31	0.35405	T	-2.06	0.47175	N	0.153	0.15749	-0.9992	0.30143	T	0.100	0.37239	T	10	0.1453917	0.27580	T	0.010794	0.27726	T	0.092	0.26621	0.149	0.05238	0.44770609447	0.44391	0.17713286401464268	0.17632	0.126814046396	0.14290	0.260893166065	0.04998	T	0.174613	0.52390	T	-0.21289	0.18974	T	-0.543578	0.17947	T	0.125717912672983	0.14981	T	0.738026	0.35555	T	0.09222512	0.21630	0.11833613	0.28565	0.09222512	0.21630	0.11833613	0.28564	-4.358	0.28982	T	.	.	0.092	0.13456	B	.;.;.	.;.;.	1.094950	0.14792	11.33	0.75498086769226336	0.11098	0.51627	0.28940	D	AEFGBI	0.247091	0.36773	N	-0.479602570313229	0.22751	1.216971	-0.435265437698269	0.23970	1.310031	0.98705172060163	0.31176	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	2.454000	0.44636	1.822000	0.29048	0.539000	0.25131	0.436000	0.26456	0.003000	0.18671	0.016000	0.10718	0.0:1.0:0.0:0.0	18.484	0.90770	970	0.06235	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3341.98	40	chr20	53255698	.	C	T	3341.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.600;DP=1070;ExcessHet=0.0000;FS=0.435;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.89;ReadPosRankSum=-4.910e-01;SOR=0.748	GT:AD:DP:GQ:PL	0/1:145,136:281:99:3356,0,3471	20	0	1	0
chr20	62821797	62821797	T	C	exonic	COL9A3	.	nonsynonymous SNV	COL9A3:NM_001853:exon8:c.T410C:p.L137P,	Epiphyseal dysplasia, multiple, 3, with or without myopathy, Autosomal dominant	.	7	1498	16	1	0	18	0.00597213	.	.	257389	not_specified|Connective_tissue_disorder|not_provided	MedGen:CN169374|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.31	T	0.005	B	0.007	B	0.007	U	1.000	D	-1.305	N	-2.78	D	-0.410	T	0.365	T	0.372	1.878	12.24	4.79	1.783	1.870	7.156	0.294	0.0673241444334	0.0027	0.00339457	0.0046	0.0049	0.0029	0	0	0.0054	0.0015	0.0070	0.0036869	570	154602	rs147947060	0.0040	0.0042	0.0039	0.0040	0.0057	0.0039	0.0038	0.0052	0.0051	0.0030	0.0021	0.0170	0	0.0007	0.0055	0.0039	0.0041	0.0057	0.0039	0.0039	0.0041	0.0037	0.0052	0.0036	0.0035	0.0042	0.0040	0.0036	0	0.0015	0.0210	0.0002	9.414e-05	0.0068	0.0046	0.0028	0.0052	0.128	0.26965	T	0.405	0.23570	T	0.005	0.12996	B	0.007	0.12992	B	0.006952	0.31695	U	0.302681	0.999795	0.49177	D	-1.165	0.00881	N	-3.57	0.94904	D	-0.1	0.08495	N	0.379	0.42050	-0.4097	0.71720	T	0.365	0.72560	T	10	0.009360015	0.00211	T	0.067324	0.70132	D	0.294	0.61388	.	.	0.74863057164	0.74636	0.5024657450337587	0.50168	0.113901460295	0.12851	0.680965423584	0.64407	T	3.69E-4	0.00107	T	-0.223375	0.17535	T	-0.0919972	0.64011	T	0.00856606393201849	0.00104	T	0.683432	0.33655	T	0.1268334	0.29697	0.2035398	0.44434	0.180683	0.39201	0.16422048	0.38053	-1.168	0.01206	T	.	.	0.099	0.43801	B	.;.;.	.;.;.	2.953959	0.39315	20.9	0.95034833747809411	0.26033	0.58758	0.30729	D	AEFDBCI	0.250613	0.37063	N	-0.483242777438565	0.22629	1.210	-0.222696171986814	0.30723	1.732407	0.99908956704427	0.38397	0.695654	0.57023	0	0.578056	0.33634	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.79	4.79	0.60909	1.790000	0.38366	4.042000	0.41433	0.603000	0.45986	0.998000	0.41325	1.000000	0.68203	0.793000	0.37436	0.0:0.1018:0.0:0.8982	7.156	0.24815	900	0.24599	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	808.11	36	chr20	62821797	.	T	C	808.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.71;DP=759;ExcessHet=0.1072;FS=1.842;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.23;ReadPosRankSum=0.428;SOR=0.923	GT:AD:DP:GQ:PL	0/1:26,21:47:99:457,0,603	19	0	2	0
chr20	63541342	63541344	GTC	-	exonic	SRMS	.	nonframeshift deletion	SRMS:NM_080823:exon7:c.1132_1134del:p.D378del,	.	.	416	1097	9	0	0	9	0.00408534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.00199681	0.0012	0.0004	0.0005	0.0042	0	0.0002	0.0013	0.0079	0.000461	12	26028	rs373947266	0.0006	0.0006	0.0004	0.0009	0.0069	0.0006	0.0006	0.0064	0.0062	0.0007	0.0001	4.65e-05	0.0042	0	0.0022	6.119e-05	0.0013	0.0069	0.0006	0.0006	0.0005	0.0008	0.0075	0.0005	0.0005	0.0055	0.0049	0.0006	0	0.0003	0	0.0035	0	0	0.0001	0.0019	0.0075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3155.94	36	chr20	63541341	.	TGTC	T	3155.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.963;DP=944;ExcessHet=0.0000;FS=0.546;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.44;ReadPosRankSum=-8.300e-01;SOR=0.747	GT:AD:DP:GQ:PL	0/1:98,83:181:99:3170,0,3839	20	0	1	0
chr20	63564308	63564308	C	T	exonic	HELZ2	.	nonsynonymous SNV	HELZ2:NM_033405:exon3:c.G2807A:p.C936Y	.	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.102	B	0.048	B	0.144	N	0.802	N	1.73	L	1.29	T	-0.977	T	0.096	T	0.276	-0.655	1.120	3.81	0.999	3.035	14.713	0.050	0.00945320688186	0.0002	.	0.0002	0	0	0	0	7.028e-05	0	0.0007	8.41e-05	13	154602	rs376276481	7.516e-05	7.525e-05	4.525e-05	0.0001	0.0017	6.365e-05	5.919e-05	0.0009	0.0007	0	0	0	0	0	0.0017	1.805e-05	0.0002	0.0008	3.284e-05	3.283e-05	3.853e-05	2.689e-05	0.0004	1.26e-05	7.98e-06	7.276e-05	3.024e-05	0	0	0	0	0.0002	0	0	1.47e-05	0.0005	0.0004	0.158	0.23905	T	0.004	0.74150	D	0.083	0.25827	B	0.029	0.24975	B	0.143557	0.18207	N	0.628625	0.801953	0.29104	N	2.57	0.75187	M	1.29	0.35775	T	-4.22	0.76094	D	0.335	0.37613	-0.9766	0.35772	T	0.096	0.36212	T	10	0.056088388	0.06233	T	0.009453	0.24763	T	0.050	0.13987	.	.	0.295623431141	0.29171	0.5070300993224843	0.50625	0.527292994097	0.50338	0.306897431612	0.11438	T	0.176139	0.52597	T	-0.419036	0.01735	T	-0.467429	0.25793	T	0.112130545079708	0.13643	T	0.517048	0.16713	T	0.25113803	0.48120	0.39675203	0.64308	0.25113803	0.48120	0.39675203	0.64308	-7.145	0.58353	T	.	.	0.178	0.38764	B	.;.	.;.	1.071701	0.14539	11.11	0.82033133285846671	0.13984	0.85784	0.44956	D	AEFDGBI	0.352222	0.44506	N	-0.504089477932824	0.21947	1.168471	-0.517161758818823	0.21687	1.174378	0.998279556249972	0.36679	0.651	0.46895	0	0.694456	0.67091	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	4.76	3.81	0.43020	3.146000	0.50327	0.896000	0.22511	-0.257000	0.07002	0.187000	0.24151	0.000000	0.08366	0.023000	0.12082	0.0:0.8448:0.1552:0.0	14.713	0.68864	.	.	.;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	0	0	0	0	0	0	0	0	0	0	0	0.02381	2075.98	101	chr20	63564308	.	C	T	2075.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.525e+00;DP=1777;ExcessHet=0.0000;FS=3.780;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.48;ReadPosRankSum=0.944;SOR=1.005	GT:AD:DP:GQ:PL	0/1:71,83:154:99:2090,0,1794	20	0	1	0
chr21	13610400	13610400	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A172G:p.R58G,	.	.	422	954	132	14	0	160	0.0773694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.462	P	0.152	B	.	.	1.000	N	1.895	L	1.03	T	-1.012	T	0.093	T	0.416	1.180	9.801	.	0.103	0.010	.	0.070	0.00147797239572	.	.	.	.	.	.	.	.	.	.	0.0066851	174	26028	rs200814491	2.492e-05	8.633e-05	1.821e-05	3.157e-05	3.472e-05	1.631e-05	1.393e-05	1.38e-05	1.117e-05	0	0	0	0	5.248e-05	0	2.332e-05	5.701e-05	3.472e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.462	0.36386	P	0.152	0.34249	B	.	.	.	.	1	0.08975	N	2.175	0.60977	M	1.03	0.40469	T	-1.15	0.29525	N	0.041	0.03841	-1.0119	0.26322	T	0.093	0.35390	T	7	0.071079314	0.10429	T	0.001478	0.02267	T	0.070	0.20419	0.258	0.20002	0.043077524339	0.03247	0.05236624517845099	0.05178	.	.	0.467012226582	0.34271	T	0.021951	0.17006	T	-0.340339	0.05364	T	-0.423521	0.30672	T	0.131828456292153	0.15550	T	0.684632	0.29972	T	0.15094694	0.34338	0.18774164	0.42023	0.15094694	0.34338	0.18774164	0.42022	-8.467	0.64211	D	.	.	0.120	0.28578	B	.;.	.;.	1.858254	0.23606	16.08	0.93571275912320728	0.23413	0.00040	0.00335	N	AEFI	0.026967	0.02121	N	-0.883970604830688	0.11224	0.5404707	-1.10778252144765	0.07550	0.3677109	1.09839826763181E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.019000	0.13337	.	.	0.134000	0.17662	0.261000	0.24959	0.000000	0.08366	0.014000	0.10232	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3466.98	33	chr21	13610400	.	A	G	3466.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.150e+00;DP=1038;ExcessHet=0.0000;FS=5.662;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.86;MQRankSum=-3.050e-01;QD=10.20;ReadPosRankSum=2.12;SOR=0.604	GT:AD:DP:GQ:PL	0/1:197,143:340:99:3481,0,4343	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	1.0	D	0.937	D	.	.	1.000	N	1.445	L	1.66	T	-0.997	T	0.095	T	0.13	0.280	5.514	-0.732	-0.424	-1.528	.	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	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	80837.62	225	chr21	13610565	.	G	A	80837.62	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.08;DP=4336;ExcessHet=0.5132;FS=0.571;InbreedingCoeff=0.1429;MLEAC=21;MLEAF=0.500;MQ=53.68;MQRankSum=-8.647e+00;QD=20.17;ReadPosRankSum=-1.350e-01;SOR=0.768	GT:AD:DP:GQ:PL	1/1:0,306:306:99:9713,919,0	6	6	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	P	-1.67	N	0.69	T	-1.046	T	0.001	T	0.1	-2.566	0.003	-2.58	-1.089	-2.921	5.628	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	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	59193.62	215	chr21	13610631	.	A	G	59193.62	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.130e-01;DP=3704;ExcessHet=0.5132;FS=4.353;InbreedingCoeff=0.1429;MLEAC=21;MLEAF=0.500;MQ=48.41;MQRankSum=-1.386e+01;QD=17.52;ReadPosRankSum=0.974;SOR=1.008	GT:AD:DP:GQ:PL	1/1:0,251:251:99:7764,753,0	6	6	9	0
chr21	13641414	13641414	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon11:c.A1603G:p.M535V,	.	.	518	268	324	412	0	1148	0.68171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	0.053	B	0.007	B	.	.	1.000	N	1.335	L	2.51	T	-0.946	T	0.021	T	0.32	0.122	4.658	2.1	0.975	1.396	3.884	0.056	0.000925184405604	.	.	.	.	.	.	.	.	.	.	0.0332984	5148	154602	rs9980783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.265	0.22694	T	0.053	0.22573	B	0.007	0.12992	B	.	.	.	.	0.999995	0.08975	N	1.295	0.32453	L	2.51	0.14284	T	-0.92	0.24676	N	0.112	0.09914	-0.9460	0.41648	T	0.021	0.08870	T	9	0.058576673	0.06907	T	9.25E-4	0.00889	T	0.056	0.15993	0.204	0.11936	0.0675242888579	0.06100	0.017058676146940573	0.01660	.	.	0.862693071365	0.91508	D	0.009423	0.08576	T	-0.65755	0.00065	T	-0.573482	0.15131	T	0.0619566306163236	0.07473	T	0.571043	0.20346	T	0.060948554	0.12567	0.09257506	0.21825	0.060948554	0.12567	0.09257506	0.21824	-3.238	0.12951	T	.	.	0.097	0.15788	B	.	.	0.712273	0.10810	7.493	0.4975947206577841	0.04266	0.04450	0.10053	N	AEFI	0.042990	0.06739	N	-0.991022779855283	0.08795	0.4137322	-1.03117548479235	0.09104	0.4510756	2.3450725238948E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.1	2.1	0.26226	1.579000	0.36145	.	.	0.351000	0.19951	0.307000	0.25387	0.000000	0.08366	0.054000	0.15518	0.8091:0.0:0.1909:0.0	3.884	0.08596	.	.	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	43117.62	207	chr21	13641414	.	A	G	43117.62	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.110e+00;DP=2761;ExcessHet=0.5132;FS=0.565;InbreedingCoeff=0.1429;MLEAC=21;MLEAF=0.500;MQ=58.03;MQRankSum=-1.526e+00;QD=17.27;ReadPosRankSum=0.159;SOR=0.606	GT:AD:DP:GQ:PL	1/1:0,196:196:99:5690,588,0	6	6	9	0
chr21	25712346	25712346	T	A	exonic	JAM2	.	nonsynonymous SNV	JAM2:NM_001270407:exon8:c.T720A:p.S240R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.294	B	0.057	B	1.000	U	1.000	N	0.69	N	0.98	T	-1.028	T	0.123	T	0.364	0.997	9.073	-1.55	-0.120	-0.480	4.961	0.062	0.0214273468274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	1.368e-06	0	2.791e-06	1.834e-06	2.3e-07	9e-08	3.1e-07	1.1e-07	0	0	0	0	0	0	1.834e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.30097	T	0.391	0.22627	T	0.006	0.13644	B	0.002	0.06944	B	1.000000	0.07966	U	0.726682	1	0.08975	N	1.545	0.39105	L	0.98	0.69657	T	-1.17	0.29933	N	0.182	0.21449	-1.0276	0.21233	T	0.123	0.42589	T	10	0.036631286	0.01971	T	0.021427	0.44197	T	0.062	0.17934	0.222	0.14518	0.500805711387	0.49717	0.3441036410257074	0.34324	0.306553085064	0.32958	0.320573210716	0.13508	T	0.041336	0.25824	T	-0.0808765	0.39571	T	-0.35395	0.38752	T	0.0527934442113712	0.05984	T	0.728927	0.34527	T	0.034835503	0.03986	0.04017836	0.04283	0.034835503	0.03985	0.04017836	0.04282	-4.874	0.41150	T	.	.	0.163	0.36053	B	.;.;.	.;.;.	0.808808	0.11799	8.369	0.95191343276668172	0.26375	0.02278	0.06571	N	AEFBI	0.089551	0.18151	N	-1.11138149169398	0.06439	0.2964457	-1.11368396652398	0.07438	0.3617989	0.00302319809919052	0.09875	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.89	-1.55	0.08105	-0.570000	0.05986	-0.295000	0.10161	-0.123000	0.13640	0.013000	0.18845	0.001000	0.17328	0.974000	0.55675	0.0:0.401:0.1784:0.4207	4.961	0.13416	993	0.01300	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1757.98	34	chr21	25712346	.	T	A	1757.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=849;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=0.856;SOR=0.704	GT:AD:DP:GQ:PL	0/1:90,77:167:99:1772,0,2064	20	0	1	0
chr21	39779276	39779276	G	A	exonic	IGSF5	.	nonsynonymous SNV	IGSF5:NM_001080444:exon5:c.G905A:p.R302H,	.	.	433	1085	4	0	0	4	0.00183993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.993	D	0.445	B	.	.	0.999	N	0.69	N	2.86	T	-1.015	T	0.007	T	0.307	1.182	9.805	3.14	2.124	0.536	10.223	0.064	.	0.0002	0.00838658	0.0040	9.664e-05	0.0004	0.0274	0	0.0003	0.0033	0.0134	0.0035963	556	154602	rs78244022	0.0019	0.0019	0.0016	0.0021	0.0312	0.0018	0.0018	0.0298	0.0292	0.0002	0.0005	0.0020	0.0312	0	0.0009	0.0002	0.0025	0.0125	0.0014	0.0014	0.0011	0.0018	0.0245	0.0013	0.0012	0.0211	0.0198	0	0	0.0002	0.0026	0.0245	0	0	0.0001	0.0028	0.0129	0.197	0.20607	T	0.0	0.92824	D	0.993	0.65571	D	0.445	0.45921	B	.	.	.	.	0.999497	0.21100	N	1.1	0.28011	L	2.86	0.10482	T	-0.58	0.17417	N	0.252	0.28498	-1.0147	0.25432	T	0.007	0.02478	T	9	0.004044831	0.00079	T	.	.	.	0.064	0.18567	.	.	0.167679373172	0.16340	0.08098479586906424	0.08033	0.120444497937	0.13563	0.305840402842	0.11278	T	0.063172	0.32106	T	-0.576067	0.00204	T	-0.579307	0.14607	T	0.0144526176839644	0.00292	T	0.415458	0.10884	T	0.03055081	0.02739	0.03832743	0.03678	0.03055081	0.02739	0.03832743	0.03678	-4.977	0.36589	T	.	.	0.092	0.13783	B	.	.	1.670955	0.21300	15.14	0.99716836606624959	0.81773	0.56028	0.30013	D	AEFI	0.124660	0.24081	N	-0.145366672945629	0.35433	2.035088	-0.184511482342356	0.32104	1.823273	0.0175216286358996	0.12960	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	3.14	3.14	0.35196	0.539000	0.22885	-0.063000	0.12399	0.475000	0.22001	0.718000	0.28801	0.758000	0.26602	0.005000	0.06747	0.0:0.0:1.0:0.0	10.223	0.42384	905	0.23532	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1500.98	34	chr21	39779276	.	G	A	1500.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.930;DP=807;ExcessHet=0.0000;FS=0.726;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.52;ReadPosRankSum=0.112;SOR=0.849	GT:AD:DP:GQ:PL	0/1:53,58:111:99:1515,0,1299	20	0	1	0
chr21	42751177	42751177	G	A	exonic	PDE9A	.	nonsynonymous SNV	PDE9A:NM_001001580:exon3:c.G64A:p.D22N	.	.	419	1102	1	0	0	1	0.000453515	.	.	2391095	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.34	T	0.992	D	0.795	P	0.242	N	0.999	D	0.625	N	-0.37	T	-0.588	T	0.323	T	0.189	2.260	13.51	5.12	2.534	7.747	17.083	0.159	0.027633124615	0.0002	.	6.591e-05	0	0	0	0	8.993e-05	0.0011	6.057e-05	5.82e-05	9	154602	rs147667334	5.548e-05	5.746e-05	4.908e-05	6.195e-05	0.0007	4.549e-05	4.161e-05	0.0002	0.0001	5.983e-05	6.708e-05	0	0	0	0.0007	5.674e-05	9.946e-05	3.479e-05	5.262e-05	5.253e-05	2.573e-05	8.072e-05	7.355e-05	2.559e-05	1.832e-05	2.848e-05	1.859e-05	2.41e-05	0	6.557e-05	0	0	0	0.0034	7.355e-05	0	0	0.22	0.27080	T	0.36	0.24334	T	0.735	0.64738	P	0.274	0.57940	B	0.242436	0.15683	N	0.623481	0.99893	0.45716	D	1.975	0.53506	M	-0.37	0.70365	T	-1.82	0.44852	N	0.623	0.66959	-0.5883	0.65288	T	0.323	0.69186	T	10	0.36399668	0.52955	T	0.027633	0.50416	D	0.159	0.41286	.	.	0.733885847521	0.73150	0.5716090211623067	0.57088	0.504383993434	0.48721	0.519133031368	0.41504	T	0.052913	0.29296	T	-0.201349	0.20610	T	-0.311665	0.43478	T	0.155183345079422	0.17509	T	0.869313	0.57326	D	0.06737603	0.14585	0.07134647	0.15268	0.06737603	0.14585	0.07134647	0.15267	-10.943	0.86150	D	.	.	0.154	0.47360	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	3.849820	0.55766	23.7	0.98967717960739143	0.49461	0.99032	0.90231	D	AEFDBI	0.915077	0.87936	D	0.0956914950547686	0.46261	2.869254	0.183779951901531	0.48959	3.104973	0.999999999895268	0.74766	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	5.12	5.12	0.69459	7.796000	0.84458	7.340000	0.58244	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.225000	0.22599	0.0:0.0:1.0:0.0	17.083	0.86478	982	0.03397	3'5'-cyclic nucleotide phosphodiesterase, catalytic domain;3'5'-cyclic nucleotide phosphodiesterase, catalytic domain;.;.;.;.;.;.;.;.;.;3'5'-cyclic nucleotide phosphodiesterase, catalytic domain;.	.	.	.	.	.	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	0.02381	2283.98	33	chr21	42751177	.	G	A	2283.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.645e+00;DP=954;ExcessHet=0.0000;FS=0.524;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.71;ReadPosRankSum=-3.190e-01;SOR=0.714	GT:AD:DP:GQ:PL	0/1:95,100:195:99:2298,0,2318	20	0	1	0
chr21	42893344	42893344	C	G	exonic	NDUFV3	.	nonsynonymous SNV	NDUFV3:NM_001001503:exon1:c.C11G:p.P4R	.	.	415	1105	2	0	0	2	0.000904159	.	.	717228	NDUFV3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	0.019	B	0.01	B	0.436	N	1.000	N	1.1	L	.	.	-1.027	T	0.068	T	0.085	1.365	10.49	-0.215	-0.304	-0.590	3.975	0.014	0.00627527875211	0.0005	0.00199681	0.0026	0	0.0086	0	0	0.0031	0	0.0025	0.0004657	72	154602	rs77606940	0.0018	0.0018	0.0018	0.0019	0.0020	0.0018	0.0018	0.0019	0.0019	0.0002	0.0016	0.0016	5.602e-05	0.0004	0.0017	0.0020	0.0019	0.0020	0.0014	0.0014	0.0014	0.0014	0.0037	0.0012	0.0012	0.0024	0.0020	0.0006	0	0.0015	0.0009	0	0.0002	0	0.0020	0.0009	0.0037	0.606	0.26852	T	0.138	0.44905	T	0.019	0.17989	B	0.01	0.14941	B	0.436323	0.12684	N	0.709736	1	0.08975	N	0.345	0.11182	N	.	.	.	-1.03	0.43334	N	0.066	0.06059	-1.0274	0.21299	T	0.068	0.28047	T	9	0.0040231645	0.00078	T	0.006275	0.16464	T	0.014	0.01968	.	.	0.453588565359	0.44983	0.11823880422472202	0.11750	0.0923622216088	0.10425	0.497224807739	0.38442	T	0.015535	0.13011	T	-0.598739	0.00148	T	-0.638682	0.09766	T	0.000335014919983223	0.00003	T	0.39556	0.10744	T	0.050344184	0.09082	0.1288401	0.30989	0.050344184	0.09081	0.1288401	0.30988	-2.362	0.04906	T	.	.	0.105	0.19235	B	.;.	.;.	-0.217000	0.03005	0.455	0.71603708964178925	0.09685	0.05021	0.10802	N	AEFGBHCIJ	0.350770	0.44410	N	-1.15057535617241	0.05770	0.2639294	-1.21226183081146	0.05712	0.2729385	0.999999998290699	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.24	-0.215	0.12510	-0.215000	0.09284	-0.071000	0.12298	-0.952000	0.02027	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4747:0.175:0.3503	3.975	0.08962	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	540.98	33	chr21	42893344	.	C	G	540.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.526e+00;DP=723;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.02;ReadPosRankSum=-3.660e-01;SOR=0.735	GT:AD:DP:GQ:PL	0/1:20,25:45:99:555,0,478	20	0	1	0
chr21	43789648	43789648	C	T	exonic	RRP1	.	nonsynonymous SNV	RRP1:NM_003683:exon1:c.C19T:p.L7F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.996	D	0.000	D	0.689	D	1.79	L	1.41	T	-0.602	T	0.165	T	0.334	3.495	17.87	4.41	1.996	1.322	13.912	0.102	0.145879259872	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1312463592	1.397e-06	2.736e-06	2.772e-06	0	1.82e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.82e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.51737	D	0.998	0.73220	D	0.996	0.84481	D	0.000002	0.62929	D	0.059221	0.68928	0.33310	D	1.87	0.49600	L	1.41	0.33412	T	-1.32	0.32991	N	0.281	0.31814	-0.6016	0.64751	T	0.165	0.50193	T	10	0.32368952	0.49703	T	0.145879	0.82804	D	0.102	0.29158	.	.	0.526943034955	0.52341	0.22124031686268955	0.22039	0.635307827515	0.57350	0.731229543686	0.71685	T	0.035783	0.23850	T	-0.127966	0.31824	T	-0.421591	0.30892	T	0.800905346870422	0.46415	D	0.772323	0.40326	T	0.6062824	0.73028	0.56276417	0.74698	0.6062824	0.73030	0.56276417	0.74699	-11.109	0.80252	D	.	.	0.187	0.40392	B	.	.	4.100775	0.61141	24.3	0.97796973136273646	0.36039	0.14209	0.18281	N	ALL	0.176642	0.30386	N	0.0927449146885481	0.46124	2.857766	-0.0834428330804492	0.36073	2.094783	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.41	4.41	0.52588	2.338000	0.43614	5.588000	0.48989	0.547000	0.25779	0.528000	0.27173	1.000000	0.68203	0.179000	0.21265	0.0:1.0:0.0:0.0	13.912	0.63375	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	556.98	40	chr21	43789648	.	C	T	556.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.301;DP=831;ExcessHet=0.0000;FS=0.898;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.23;ReadPosRankSum=-8.940e-01;SOR=0.578	GT:AD:DP:GQ:PL	0/1:51,26:77:99:571,0,1303	20	0	1	0
chr21	44558616	44558616	T	0	exonic	KRTAP10-3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	99920.15	123	chr21	44558616	.	T	G,*	99920.15	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=0.718;DP=2610;ExcessHet=0.3300;FS=0.992;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=59.23;MQRankSum=-1.477e+00;QD=30.87;ReadPosRankSum=0.806;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,117,0:117:99:1|1:44558605_G_A:5217,352,0,5217,352,5217:44558605	0	17	3	0
chr21	44558620	44558620	G	0	exonic	KRTAP10-3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	97991.64	126	chr21	44558620	.	G	A,*	97991.64	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=1.53;DP=2612;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=59.24;MQRankSum=-8.900e-01;QD=32.40;ReadPosRankSum=0.868;SOR=0.790	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,118,0:118:99:1|1:44558605_G_A:5256,355,0,5256,355,5256:44558605	0	17	3	0
chr21	44580407	44580407	G	A	exonic	KRTAP10-5	.	nonsynonymous SNV	KRTAP10-5:NM_198694:exon1:c.C172T:p.P58S,	.	.	390	1109	23	0	0	23	0.0102633	.	.	2821831	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.55	T	0.001	B	0.0	B	.	.	1.000	N	1.28	L	5.73	T	-0.928	T	0.002	T	0.153	-1.731	0.011	-3.38	-0.454	-0.976	3.007	0.027	.	0.0066	0.00299521	0.0077	0.0016	0.0057	0	0.0044	0.0116	0.0078	0.0023	0.0074385	1150	154602	rs142526502	0.0099	0.0099	0.0100	0.0099	0.0113	0.0098	0.0097	0.0112	0.0111	0.0016	0.0065	0.0147	2.519e-05	0.0054	0.0088	0.0113	0.0102	0.0026	0.0075	0.0076	0.0076	0.0075	0.0114	0.0072	0.0070	0.0107	0.0104	0.0019	0.0461	0.0059	0.0179	0	0.0068	0.0102	0.0114	0.0099	0.0015	0.142	0.25457	T	0.095	0.39492	T	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	5.73	0.00718	T	-2.81	0.59389	D	0.079	0.05414	-0.9285	0.44357	T	0.002	0.00497	T	9	0.0028358698	0.00045	T	.	.	.	0.027	0.05988	.	.	0.0297737177859	0.01360	0.058203538808827004	0.05761	0.0307842991573	0.03180	0.221587747335	0.01403	T	.	.	.	-0.635277	0.00089	T	-0.67492	0.07296	T	0.004378722821312	0.00047	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.06942	B	.	.	0.973736	0.13511	10.03	0.62087073659198166	0.06873	0.00463	0.02227	N	AEFDBHCI	0.019251	0.00652	N	-1.47854327232773	0.02002	0.08795339	-1.59303291065284	0.01697	0.07712247	0.996324462439877	0.34669	0.615755	0.39536	0	0.573888	0.26702	0	0.618376	0.41669	0	0.542086	0.14980	0	.	.	1.99	-3.38	0.04577	-0.498000	0.06502	-0.806000	0.07354	-1.512000	0.01014	0.000000	0.06391	0.000000	0.08366	0.042000	0.14466	0.4693:0.2339:0.2968:0.0	3.007	0.05665	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	0.02381	2167.98	41	chr21	44580407	.	G	A	2167.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.746e+00;DP=1635;ExcessHet=0.0000;FS=0.575;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.95;MQRankSum=-1.063e+00;QD=13.06;ReadPosRankSum=0.332;SOR=0.771	GT:AD:DP:GQ:PL	0/1:89,77:166:99:2182,0,2571	20	0	1	0
chr21	44637708	44637723	TGTCTGCTGTGTGCCC	0	exonic	KRTAP10-10	.	.	.	.	.	451	251	178	15	627	835	0.292958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	11119.76	311	chr21	44637708	.	TGTCTGCTGTGTGCCC	T,*	11119.76	.	AC=2,21;AF=0.050,0.525;AN=40;DP=7560;ExcessHet=2.9564;FS=0.000;InbreedingCoeff=-0.1019;MLEAC=2,22;MLEAF=0.050,0.550;MQ=59.91;QD=2.06;SOR=0.752	GT:AD:DP:GQ:PL	2/2:1,0,342:343:99:15038,15092,15417,1012,1063,0	3	1	0	1
chr21	44787945	44787945	A	G	exonic	UBE2G2	.	nonsynonymous SNV	UBE2G2:NM_003343:exon3:c.T100C:p.F34L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.092	B	0.095	B	0.000	D	1.000	D	-0.575	N	1.57	T	-1.049	T	0.031	T	0.871	3.065	16.23	5.52	2.099	5.889	13.200	0.274	0.00886243088208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.092	0.25296	B	0.095	0.30245	B	0.000003	0.62929	D	0.137180	1	0.81001	D	-1.005	0.01165	N	1.57	0.29342	T	-2.35	0.60665	N	0.872	0.90363	-1.0486	0.14790	T	0.031	0.13155	T	10	0.5078333	0.61922	D	0.008862	0.23366	T	0.274	0.59007	0.51	0.60693	0.288727942641	0.28479	0.8250472284512437	0.82462	1.94467123622	0.93298	0.808675408363	0.83290	D	0.111177	0.42646	T	0.143258	0.68634	D	-0.0319962	0.68236	D	0.919920444488525	0.57885	D	0.980902	0.93438	D	0.6310103	0.74352	0.39437196	0.64133	0.6310103	0.74353	0.39437196	0.64133	-2.196	0.04644	T	.	.	0.867	0.80711	P	.;.	.;.	3.857211	0.55911	23.7	0.99019966515632019	0.50548	0.96590	0.69904	D	AEDBI	0.584769	0.58346	D	-0.306715822902196	0.28893	1.597481	-0.0350811180024322	0.38142	2.242996	0.999999992463418	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.52	5.52	0.82153	6.147000	0.71549	11.101000	0.86122	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	13.200	0.59185	976	0.04745	Ubiquitin-conjugating enzyme E2|Ubiquitin-conjugating enzyme E2|Ubiquitin-conjugating enzyme E2;.	.	.	.	.	.	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	0.02381	36.98	33	chr21	44787945	.	A	G	36.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.819e+00;DP=865;ExcessHet=0.0000;FS=98.384;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.21;ReadPosRankSum=0.068;SOR=6.517	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,25:177:51:0|1:44787945_A_G:51,0,4958:44787945	20	0	1	0
chr21	46287125	46287125	-	A	splicing	YBEY	NM_001314026:exon2:c.210+2->A;NM_001006114:exon2:c.210+2->A;NM_001314022:exon2:c.210+2->A;NM_001314025:exon2:c.210+2->A;NM_058181:exon2:c.210+2->A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs530846715	0.0005	0.0032	0.0004	0.0005	0.0018	0.0004	0.0004	0.0014	0.0012	0.0018	0.0010	0.0006	0.0015	0.0004	0.0012	0.0003	0.0005	0.0012	0.0005	0.0005	0.0004	0.0005	0.0013	0.0004	0.0003	0.0010	0.0009	0.0012	0	6.661e-05	0	0.0008	0.0002	0	7.419e-05	0.0005	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	8455.27	32	chr21	46287125	.	T	TAAAAAA,TAAAAA,TA	8455.27	.	AC=7,7,1;AF=0.167,0.167,0.024;AN=42;BaseQRankSum=-1.320e+00;DP=957;ExcessHet=0.1361;FS=1.223;InbreedingCoeff=0.2741;MLEAC=7,7,1;MLEAF=0.167,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=21.35;ReadPosRankSum=-9.300e-02;SOR=0.767	GT:AD:DP:GQ:PL	0/1:26,10,0,0:38:99:381,0,1056,347,1092,1407,347,1092,1407,1407	10	0	3	0
chr22	16799888	16799888	T	C	exonic	XKR3	.	nonsynonymous SNV	XKR3:NM_001318251:exon3:c.A472G:p.M158V	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.002	B	0.002	B	0.667	U	1.000	N	0.145	N	-0.02	T	-1.053	T	0.054	T	0.068	0.244	5.319	0.945	0.727	1.549	6.176	0.038	.	0.0072	0.00459265	0.0015	0.0174	0.0006	0	0	0	0	0	0.0013454	208	154602	rs112619670	0.0006	0.0006	0.0007	0.0005	0.0213	0.0006	0.0005	0.0200	0.0195	0.0213	0.0010	0.0003	0	0	0.0002	1.169e-05	0.0013	5.797e-05	0.0057	0.0057	0.0058	0.0056	0.0200	0.0054	0.0053	0.0189	0.0184	0.0200	0	0.0020	0.0006	0	0	0	4.41e-05	0.0019	0	0.291	0.14945	T	0.678	0.06147	T	0.002	0.09854	B	0.002	0.06944	B	0.666522	0.10380	U	0.815815	1	0.08975	N	0.345	0.11182	N	-0.02	0.62918	T	-0.45	0.14782	N	0.133	0.12913	-1.0532	0.13520	T	0.054	0.22731	T	10	0.003227383	0.00055	T	.	.	.	0.038	0.09825	.	.	0.0920862733494	0.08535	0.0876662676830755	0.08699	0.0909394490045	0.10271	.	.	.	0.01004	0.09096	T	-0.585525	0.00178	T	-0.599563	0.12848	T	0.00798539622158165	0.00094	T	0.287271	0.05164	T	0.058378037	0.11738	0.07984042	0.18010	0.058378037	0.11737	0.07984042	0.18010	-2.921	0.09355	T	.	.	0.102	0.17995	B	.	.	0.037065	0.04542	1.235	0.46048970712858706	0.03659	0.03868	0.09231	N	AEFI	0.031244	0.03299	N	-0.998326746449941	0.08640	0.4058614	-1.02724222388161	0.09188	0.4557403	0.905964668266707	0.26218	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.945	0.945	0.18667	1.505000	0.35344	0.293000	0.16894	0.330000	0.19542	0.724000	0.28861	0.008000	0.19753	0.003000	0.05239	0.0:0.0:0.0:1.0	6.176	0.19662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2753.98	35	chr22	16799888	.	T	C	2753.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.481e+00;DP=936;ExcessHet=0.0000;FS=1.058;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.93;ReadPosRankSum=0.186;SOR=0.635	GT:AD:DP:GQ:PL	0/1:98,115:213:99:2768,0,2490	20	0	1	0
chr22	16799999	16799999	G	A	exonic	XKR3	.	nonsynonymous SNV	XKR3:NM_001318251:exon3:c.C361T:p.H121Y	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.99	T	0.022	B	0.006	B	.	.	1.000	N	0	N	0.09	T	-1.045	T	0.031	T	0.105	-2.609	0	-1.52	-0.864	0.225	1.888	0.034	.	0.0073	0.00459265	0.0015	0.0175	0.0005	0	0	0	0	0	0.0013389	207	154602	rs111932609	0.0006	0.0006	0.0007	0.0005	0.0213	0.0005	0.0005	0.0200	0.0195	0.0213	0.0008	0	0	0	0.0002	8.094e-06	0.0013	5.797e-05	0.0057	0.0057	0.0057	0.0056	0.0200	0.0054	0.0052	0.0189	0.0184	0.0200	0	0.0018	0	0	0	0	4.412e-05	0.0019	0	1.0	0.00964	T	1.0	0.01155	T	0.022	0.18677	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	-0.345	0.03330	N	0.09	0.61443	T	1.59	0.00660	N	0.243	0.27435	-1.0451	0.15796	T	0.031	0.13286	T	9	0.003776431	0.00070	T	.	.	.	0.034	0.08419	.	.	0.18274738541	0.17906	0.05404719272918024	0.05346	0.112868008101	0.12739	.	.	.	0.001498	0.00943	T	-0.584346	0.00181	T	-0.597869	0.12990	T	0.0046559312885301	0.00050	T	0.319168	0.06405	T	0.034145664	0.03776	0.046027567	0.06324	0.034145664	0.03776	0.046027567	0.06324	-1.63	0.02053	T	.	.	0.090	0.12844	B	.	.	0.119702	0.05175	1.692	0.20736271978626744	0.00759	0.00321	0.01686	N	AEFI	0.013297	0.00172	N	-1.39737615074253	0.02663	0.1179055	-1.44788084225146	0.02789	0.1289393	0.861935010717376	0.25243	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.762	-1.52	0.08181	0.239000	0.17800	-0.605000	0.08250	0.331000	0.19555	0.534000	0.27220	0.000000	0.08366	0.010000	0.09038	0.4647:0.0:0.2642:0.2711	1.888	0.03044	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1364.98	35	chr22	16799999	.	G	A	1364.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.24;DP=833;ExcessHet=0.0000;FS=10.268;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.51;ReadPosRankSum=-1.082e+00;SOR=1.806	GT:AD:DP:GQ:PL	0/1:57,44:101:99:1379,0,1634	20	0	1	0
chr22	18925165	18925165	A	G	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon4:c.T229C:p.W77R	.	.	0	170	630	722	0	2074	0.859155	.	.	1159081	Proline_dehydrogenase_deficiency	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.0	B	0.094	N	0.999	P	.	.	-0.92	T	-0.991	T	0.000	T	0.068	-1.216	0.065	2.88	0.250	3.683	6.438	0.076	.	0.6739	0.78095	0.6417	0.8658	0.6056	0.9683	0.4835	0.5769	0.6024	0.6814	0.02359	614	26028	rs386819653	0.0003	0.0047	0.0004	0.0002	0.0023	0.0002	0.0001	0.0006	0.0003	0	0.0023	0	0	0	0	0.0004	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.503	0.07670	T	0.534	0.09965	T	0.0	0.02946	B	0.0	0.01387	B	0.094139	0.20188	N	0.520350	0.999439	0.21199	P	.	.	.	-0.92	0.75108	T	3.71	0.00075	N	0.033	0.01068	-0.9908	0.32398	T	0.000	0.00011	T	8	1.1503014e-06	0.00003	T	.	.	.	0.124	0.34239	0.323	0.30387	.	.	0.36059814543275515	0.35973	0.483945717353	0.47326	0.248760938644	0.03638	T	0.002583	0.06018	T	-0.601222	0.00143	T	-0.49257	0.23121	T	0.00184463573786778	0.00019	T	0.00685721	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00015	B	.;.;.;.;.	.;.;.;.;.	0.485323	0.08545	5.311	0.22177376406136032	0.00880	0.05952	0.11910	N	AEFDBI	0.024100	0.01439	N	-0.980425259653166	0.09021	0.425321	-0.911628502467974	0.11819	0.6044718	0.999452624102034	0.39788	0.722319	0.85440	0	0.627178	0.54094	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	2.88	0.32617	3.825000	0.55430	1.457000	0.26651	-2.966000	0.00148	0.770000	0.29357	0.835000	0.27248	0.022000	0.11911	0.1618:0.0:0.6925:0.1458	6.438	0.21037	929	0.16858	.;.;.;.;.	.	.	.	.	rs4819756	Benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.6905	64105.31	193	chr22	18925165	.	A	G	64105.31	.	AC=29;AF=0.690;AN=42;BaseQRankSum=-1.553e+00;DP=3080;ExcessHet=0.2231;FS=0.000;InbreedingCoeff=0.2202;MLEAC=29;MLEAF=0.690;MQ=60.00;MQRankSum=0.00;QD=22.15;ReadPosRankSum=0.574;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:85,78:163:99:.:.:1852,0,2199	3	11	7	0
chr22	19196300	19196300	-	AGG	exonic	CLTCL1	.	nonframeshift insertion	CLTCL1:NM_001835:exon26:c.4156_4157insCCT:p.A1385_W1386insS	.	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3e-05	.	2.494e-05	0	0	0	0	4.516e-05	0	0	.	.	.	rs782104259	1.505e-05	1.505e-05	9.53e-06	2.063e-05	0.0002	9.85e-06	8.42e-06	1.093e-05	8.81e-06	0	0	0	0	0	0.0002	1.709e-05	3.313e-05	0	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1700.94	37	chr22	19196300	.	C	CAGG	1700.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.133;DP=925;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.51;ReadPosRankSum=0.609;SOR=0.746	GT:AD:DP:GQ:PL	0/1:58,45:103:99:1715,0,2293	20	0	1	0
chr22	21216084	21216084	C	T	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon10:c.G589A:p.G197S,	.	.	708	711	85	18	0	121	0.0784187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025511	664	26028	rs55710139	7.199e-06	1.59e-05	2.859e-06	1.16e-05	2.647e-05	3.64e-06	2.65e-06	2.72e-06	1.75e-06	0	0	0	2.647e-05	0	0	6.546e-06	1.74e-05	1.241e-05	5.682e-05	7.425e-05	5.532e-05	5.84e-05	9.519e-05	2.739e-05	2.062e-05	4.112e-05	2.739e-05	2.491e-05	0	8e-05	0	0	0	0	9.519e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	738.84	17	chr22	21216084	.	C	T	738.84	.	AC=9;AF=0.250;AN=36;BaseQRankSum=2.32;DP=347;ExcessHet=5.0238;FS=1.528;InbreedingCoeff=-0.3403;MLEAC=10;MLEAF=0.278;MQ=43.88;MQRankSum=-1.754e+00;QD=5.43;ReadPosRankSum=0.080;SOR=0.771	GT:AD:DP:GQ:PL	0/1:14,2:16:24:24,0,324	9	0	9	3
chr22	23289601	23289601	C	T	exonic	BCR	.	nonsynonymous SNV	BCR:NM_004327:exon13:c.C2687T:p.P896L	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.981	D	0.000	D	1.000	D	2.32	M	1.99	T	-0.906	T	0.146	T	0.819	4.916	28.4	4.78	2.576	7.515	17.667	0.408	0.0169641393081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1466337911	1.437e-05	1.436e-05	9.529e-06	1.925e-05	1.799e-05	9.23e-06	7.84e-06	1.175e-05	9.55e-06	0	0	0	0	0	0	1.799e-05	0	1.159e-05	2.659e-05	2.628e-05	2.599e-05	2.723e-05	4.973e-05	8.21e-06	5.19e-06	8.24e-06	3.08e-06	4.973e-05	0	0	0	0	0	0	2.949e-05	0	0	0.002	0.72154	D	0.019	0.76473	D	1.0	0.90584	D	0.96	0.75168	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.545	0.74286	M	1.99	0.21666	T	-6.24	0.90530	D	0.731	0.82458	-0.9062	0.47308	T	0.146	0.46967	T	10	0.80930173	0.80232	D	0.016964	0.38457	T	0.408	0.72022	0.517	0.61763	0.721023492657	0.71856	0.6418391899569057	0.64118	1.10889317795	0.77984	0.79745054245	0.81575	T	0.807372	0.95150	D	0.117854	0.66156	D	-0.0530009	0.66817	D	0.97802072763443	0.72124	D	0.997217	0.98907	D	0.528744	0.68759	0.4937954	0.70722	0.528744	0.68760	0.4937954	0.70722	-13.501	0.91321	D	.	.	0.551	0.75957	A	.;.	.;.	5.154308	0.86338	28.9	0.99910131427050253	0.97949	0.98003	0.78791	D	AEFGBCI	0.888463	0.82160	D	0.719044028158319	0.80881	7.393575	0.660886161375391	0.79425	7.079457	0.999999999999969	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.78	4.78	0.60666	7.614000	0.82196	7.456000	0.59008	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.0:1.0:0.0:0.0	17.667	0.88109	958	0.09170	C2 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	0.02381	1092.98	79	chr22	23289601	.	C	T	1092.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=1223;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.54;ReadPosRankSum=-3.410e-01;SOR=0.696	GT:AD:DP:GQ:PL	0/1:79,49:128:99:1107,0,1829	20	0	1	0
chr22	23311788	23311788	-	CCGG	exonic	BCR	.	frameshift insertion	BCR:NM_021574:exon18:c.3142_3143insCCGG:p.V1050Rfs*17	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	.	25	583	905	9	0	923	0.441838	.	.	1196252	not_provided|Chronic_myelogenous_leukemia,_BCR-ABL1_positive	MedGen:C3661900|Human_Phenotype_Ontology:HP:0005506,Human_Phenotype_Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs372013175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	9572.82	36	chr22	23311788	.	T	TCCGG	9572.82	.	AC=16;AF=0.381;AN=42;BaseQRankSum=0.511;DP=1943;ExcessHet=20.9642;FS=19.140;InbreedingCoeff=-0.6154;MLEAC=16;MLEAF=0.381;MQ=55.14;MQRankSum=-7.359e+00;QD=5.78;ReadPosRankSum=0.550;SOR=1.916	GT:AD:DP:GQ:PL	0/1:90,16:106:99:401,0,3702	5	0	16	0
chr22	23311830	23311830	G	A	exonic	BCR	.	nonsynonymous SNV	BCR:NM_021574:exon18:c.G3184A:p.D1062N	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	.	59	994	464	5	0	474	0.192526	.	.	247185	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.986	D	0.771	P	0.000	D	1.000	D	1.13	L	2.66	T	-1.146	T	0.053	T	0.225	5.285	33	4.49	2.258	9.533	16.632	0.231	0.0272677260962	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879255379	3.426e-06	6.156e-06	5.454e-06	1.377e-06	2.994e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.994e-05	2.236e-05	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35726	T	0.018	0.59732	D	0.976	0.58310	D	0.752	0.56092	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.765	0.19305	N	2.66	0.12575	T	-3.28	0.65627	D	0.843	0.83885	-1.1463	0.01139	T	0.053	0.22423	T	10	0.81994617	0.81205	D	0.027268	0.50098	D	0.231	0.53208	.	.	0.600008996327	0.59681	0.3965005129848048	0.39565	2.73974519172	0.98685	0.815404891968	0.84322	D	0.308497	0.68058	T	-0.175721	0.24374	T	-0.490187	0.23372	T	0.916451156139374	0.57389	D	0.875712	0.89686	D	0.43747994	0.63240	0.3549618	0.61031	0.43747994	0.63240	0.3549618	0.61031	-6.831	0.53477	T	.	.	0.771	0.75988	P	.;.	.;.	5.927754	0.94089	33	0.99910446622876614	0.98022	0.98481	0.83233	D	AEFBI	0.912634	0.87354	D	0.533033419009816	0.69054	5.303049	0.562786706860508	0.72290	5.786788	0.9999990001556	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.49	4.49	0.54177	9.664000	0.97881	6.611000	0.56088	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:1.0:0.0	16.632	0.84893	940	0.13648	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	1509.16	36	chr22	23311830	.	G	A	1509.16	.	AC=9;AF=0.214;AN=42;BaseQRankSum=2.22;DP=1620;ExcessHet=4.7172;FS=18.276;InbreedingCoeff=-0.2741;MLEAC=9;MLEAF=0.214;MQ=57.72;MQRankSum=-8.970e+00;QD=1.86;ReadPosRankSum=-2.564e+00;SOR=2.383	GT:AD:DP:GQ:PL	0/1:87,9:96:27:27,0,2203	12	0	9	0
chr22	23958338	23958338	C	T	exonic	GSTT2;GSTT2B	.	nonsynonymous SNV	GSTT2:NM_000854:exon4:c.G472A:p.A158T	.	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.33	B	0.115	B	0.794	N	1.000	N	0.915	L	4.28	T	-1.011	T	0.022	T	0.062	0.397	6.154	-5.31	-0.813	-2.079	10.057	0.101	.	0.0068	0.00599042	0.0094	0.0253	0.0037	0	0.0135	0.0113	0.0060	0.0030	0.0002781	43	154602	rs149948097	0.0065	0.0068	0.0068	0.0063	0.0090	0.0064	0.0064	0.0081	0.0078	0.0090	0.0021	0.0007	0	0.0279	0.0011	0.0065	0.0061	0.0002	0.0071	0.0084	0.0068	0.0074	0.0084	0.0067	0.0066	0.0076	0.0073	0.0084	0	0.0038	0.0009	0	0.0218	0	0.0064	0.0050	0.0005	0.564	0.06302	T	0.351	0.17425	T	0.313	0.33247	B	0.115	0.31843	B	0.794466	0.09371	N	0.916126	1	0.08975	N	0.785	0.19527	N	4.28	0.22067	T	-1.04	0.28084	N	0.047	0.07125	-1.0109	0.26635	T	0.022	0.09238	T	10	0.018419117	0.00400	T	.	.	.	0.101	0.28911	.	.	0.117191471859	0.11215	0.37735749437460125	0.37650	1.77228400373	0.91296	0.392514586449	0.24024	T	0.012775	0.19713	T	-0.695009	0.00039	T	-0.760078	0.03110	T	0.00359359342600403	0.00038	T	0.470853	0.19007	T	0.058650117	0.11824	0.06100396	0.11710	0.058650117	0.11824	0.06100396	0.11709	-2.377	0.04994	T	.	.	0.104	0.18705	B	.;.	.;.	-0.409203	0.02178	0.214	0.83717660468827082	0.14881	0.00418	0.02065	N	AEFI	0.031839	0.03481	N	-1.03732728404825	0.07838	0.3655009	-1.14275050522622	0.06899	0.3336694	7.32570794475365E-5	0.04552	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	3.7	-5.31	0.02519	-2.891000	0.00777	-20.000000	0.00162	0.568000	0.28809	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.2875:0.0:0.7125	10.057	0.41423	946	0.12043	Glutathione S-transferase, C-terminal|Glutathione S-transferase, C-terminal-like|Glutathione S-transferase Theta, C-terminal;Glutathione S-transferase, C-terminal-like|Glutathione S-transferase Theta, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1464.98	34	chr22	23958338	.	C	T	1464.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.906e+00;DP=822;ExcessHet=0.0000;FS=1.833;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=35.03;MQRankSum=-2.255e+00;QD=12.01;ReadPosRankSum=0.418;SOR=0.479	GT:AD:DP:GQ:PL	0/1:60,62:122:99:1479,0,1518	20	0	1	0
chr22	26027623	26027623	C	T	exonic	MYO18B	.	nonsynonymous SNV	MYO18B:NM_001318245:exon43:c.C7652T:p.T2551M	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, Autosomal recessive	.	416	1101	5	0	0	5	0.00226552	.	.	1467601	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.895	P	0.289	B	0.666	N	1.000	N	0	N	-2.2	D	-0.578	T	0.398	T	0.161	0.208	5.119	3.08	0.585	1.185	10.723	0.041	0.0737073875313	.	0.000199681	0.0002	0	0.0004	0.0002	0	0.0002	0	0	0.0001358	21	154602	rs537017719	0.0001	0.0001	0.0001	9.628e-05	0.0003	8.984e-05	8.467e-05	0.0002	0.0002	2.987e-05	0.0003	0.0007	2.52e-05	1.873e-05	0	9.264e-05	0.0002	2.319e-05	0.0001	0.0001	7.717e-05	0.0001	0.0003	7.093e-05	5.749e-05	0.0001	8.282e-05	4.818e-05	0	0.0003	0	0	0	0	0.0001	0	0	0.003	0.68238	D	0.075	0.42794	T	0.521	0.37531	P	0.096	0.30313	B	0.665846	0.06007	N	1.211880	1	0.08975	N	1.5	0.37844	L	-2.2	0.87038	D	-1.61	0.38734	N	0.129	0.20262	-0.5782	0.65688	T	0.398	0.75045	T	10	0.034923226	0.01719	T	0.073707	0.71859	D	0.295	0.61502	.	.	0.734920241046	0.73255	0.30227002007513865	0.30140	0.0683700250583	0.07654	0.247428551316	0.03502	T	0.046048	0.27308	T	-0.270466	0.11705	T	-0.315763	0.43038	T	0.0532634452008459	0.06064	T	0.393561	0.09813	T	0.02885192	0.02288	0.06596466	0.13445	0.02885192	0.02288	0.06596466	0.13444	-5.267	0.39615	T	.	.	0.081	0.10739	B	.;.;.	.;.;.	1.790601	0.22760	15.75	0.95379720346264374	0.26802	0.14757	0.18570	N	AEFDBHCI	0.164592	0.29099	N	-0.797422968986509	0.13377	0.6585602	-0.829657859586208	0.13778	0.716565	0.964709243205553	0.28779	0.538911	0.22237	0	0.588015	0.36545	0	0.607057	0.38367	0	0.564101	0.26826	0	.	.	5.17	3.08	0.34576	1.228000	0.32190	1.402000	0.26205	-0.173000	0.11020	0.001000	0.13787	0.001000	0.17328	0.000000	0.00833	0.0:0.8425:0.0:0.1575	10.723	0.45253	905	0.23532	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	4808.98	37	chr22	26027623	.	C	T	4808.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.81;DP=1138;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.24;ReadPosRankSum=0.183;SOR=0.706	GT:AD:DP:GQ:PL	0/1:202,191:393:99:4823,0,4738	20	0	1	0
chr22	26453324	26453324	C	T	exonic	HPS4	.	nonsynonymous SNV	HPS4:NM_152841:exon12:c.G2021A:p.S674N	Hermansky-Pudlak syndrome 4	.	1	1519	2	0	0	2	0.000657895	.	.	438670	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.82	T	0.238	B	0.132	B	0.000	D	0.748	D	1.155	L	1.98	T	-1.060	T	0.032	T	0.038	0.462	6.508	4.46	2.307	4.890	6.094	0.082	0.00333783240548	.	.	3.295e-05	0	0	0	0	1.498e-05	0	0.0002	3.88e-05	6	154602	rs761057923	2.599e-05	2.599e-05	2.042e-05	3.163e-05	0.0007	1.932e-05	1.692e-05	0.0002	0.0001	0	0	0	2.519e-05	0	0.0007	1.079e-05	3.311e-05	0.0002	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.338	0.12796	T	1.0	0.01155	T	0.125	0.26866	B	0.097	0.30390	B	0.000004	0.62929	D	0.107316	0.747719	0.33893	D	1.2	0.30300	L	1.98	0.21865	T	0.07	0.06138	N	0.073	0.05670	-1.0601	0.11731	T	0.032	0.13723	T	10	0.07943654	0.12778	T	0.003338	0.07451	T	0.082	0.23913	0.178	0.08503	0.290962096972	0.28708	0.1816148950593467	0.18080	0.0536951947844	0.05932	0.409600138664	0.26401	T	0.099099	0.40358	T	-0.445205	0.01205	T	-0.674628	0.07315	T	0.154281795024872	0.17439	T	0.69563	0.30512	T	0.04511829	0.07332	0.05582231	0.09864	0.04511829	0.07332	0.05582231	0.09864	-4.624	0.33585	T	.	.	0.167	0.40937	B	.;.;.	.;.;.	2.317599	0.29672	18.20	0.72596002628138634	0.10028	0.81890	0.41206	D	AEFDBI	0.300399	0.40920	N	-0.248314615081791	0.31171	1.745173	-0.127188681402622	0.34299	1.971361	0.999962325314636	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	4.46	4.46	0.53567	4.659000	0.61199	2.177000	0.31099	0.599000	0.40250	1.000000	0.71638	0.975000	0.29991	0.187000	0.21511	0.0:0.795:0.0:0.205	6.094	0.19232	965	0.07246	.;.;.	.	.	.	.	.	Uncertain significance	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	0	0	0.02381	2345.98	35	chr22	26453324	.	C	T	2345.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.750e-01;DP=899;ExcessHet=0.0000;FS=2.387;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.39;ReadPosRankSum=0.874;SOR=0.548	GT:AD:DP:GQ:PL	0/1:112,94:206:99:2360,0,2901	20	0	1	0
chr22	27983494	27983494	C	G	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon23:c.G6173C:p.G2058A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.999	D	0.996	D	0.001	D	1.000	D	1.1	L	-3.55	D	0.873	D	0.854	D	0.534	3.865	19.64	4.62	2.497	5.622	17.344	0.409	0.092232836446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.158e-06	1.3e-05	4.259e-06	0	2.79e-06	5.7e-07	1.6e-07	7.4e-07	2.1e-07	0	0	0	0	0	0	2.79e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.382	0.15890	T	0.999	0.77913	D	0.996	0.84481	D	0.000562	0.43250	D	0.231958	0.999998	0.58761	D	2.005	0.54552	M	-3.55	0.94834	D	-1.3	0.32590	N	0.603	0.62103	0.873	0.95310	D	0.854	0.95149	D	10	0.3825744	0.54304	T	0.092233	0.75853	D	0.409	0.72099	0.19	0.10039	0.813956147583	0.81220	0.39497344297316855	0.39412	.	.	0.577225387096	0.49695	T	0.029009	0.20885	T	0.212969	0.75111	D	0.0681383	0.74787	D	0.896070539951324	0.54772	D	0.984702	0.94722	D	0.313312	0.54071	0.39437744	0.64133	0.313312	0.54071	0.39437744	0.64133	-2.954	0.09694	T	.	.	0.597	0.68768	P	.;.	.;.	4.504296	0.70476	25.5	0.99803016321568272	0.88728	0.97027	0.72267	D	AEFDBI	0.627685	0.61005	D	0.584171606304849	0.72186	5.766284	0.570052008804894	0.72802	5.867747	0.999999815894828	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.62	4.62	0.56946	5.680000	0.67831	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	17.344	0.87192	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2333	768.61	106	chr22	27983494	.	C	G	768.61	.	AC=7;AF=0.233;AN=30;BaseQRankSum=-3.655e+00;DP=1981;ExcessHet=2.5830;FS=182.420;InbreedingCoeff=-0.3157;MLEAC=9;MLEAF=0.300;MQ=60.00;MQRankSum=0.00;QD=1.03;ReadPosRankSum=1.25;SOR=9.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,15:104:99:0|1:27983493_C_G:130,0,3260:27983493	8	0	7	6
chr22	27983495	27983495	C	G	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon23:c.G6172C:p.G2058R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.001	N	1.000	D	1.1	L	-3.6	D	0.805	D	0.837	D	0.769	4.020	20.6	3.6	1.253	7.418	12.290	0.600	0.158398177192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.157e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.027	0.58613	D	1.0	0.90584	D	0.999	0.92359	D	0.000562	0.43250	N	0.231958	0.999999	0.58761	D	2.005	0.54552	M	-3.6	0.95009	D	-2.8	0.59226	D	0.789	0.78546	0.805	0.94474	D	0.837	0.94553	D	10	0.61998546	0.67922	D	0.158398	0.83880	D	0.600	0.84183	0.239	0.17065	0.750618531641	0.74836	0.5121720383386701	0.51139	.	.	0.657954216003	0.61117	T	0.095784	0.39692	T	0.353062	0.86712	D	0.269372	0.86538	D	0.99226039648056	0.82702	D	0.987934	0.95926	D	0.3778262	0.59159	0.5174505	0.72120	0.3778262	0.59159	0.5174505	0.72120	-4.333	0.28637	T	.	.	0.962	0.88285	P	.;.	.;.	4.774876	0.77330	26.7	0.9991599844056599	0.98379	0.99519	0.96998	D	AEFDBI	0.922723	0.89811	D	0.528874973212774	0.68806	5.26799	0.494853380951096	0.67649	5.112284	0.99999983332082	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.62	3.6	0.40374	7.481000	0.80171	7.580000	0.60937	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9161:0.0:0.0839	12.290	0.54132	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4375	796.84	106	chr22	27983495	.	C	G	796.84	.	AC=7;AF=0.438;AN=16;BaseQRankSum=-2.082e+00;DP=1886;ExcessHet=2.5830;FS=182.420;InbreedingCoeff=-0.4724;MLEAC=12;MLEAF=0.750;MQ=60.00;MQRankSum=0.00;QD=1.07;ReadPosRankSum=1.34;SOR=9.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,15:104:99:0|1:27983493_C_G:130,0,3260:27983493	1	0	7	13
chr22	28725277	28725277	C	T	exonic	CHEK2	.	nonsynonymous SNV	CHEK2:NM_001349956:exon3:c.G410A:p.R137Q	Li-Fraumeni syndrome;Osteosarcoma, somatic	YES	4	1516	2	0	0	2	0.000659196	.	.	133530	Hereditary_cancer-predisposing_syndrome|not_specified|CHEK2-related_cancer_predisposition|Familial_cancer_of_breast|not_provided|Breast_and/or_ovarian_cancer	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0700271,MedGen:CN377760|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MedGen:C3661900|MedGen:CN221562	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.65	T	0.304	B	0.039	B	0.054	N	1.000	N	0.18	N	-2.14	D	-0.493	T	0.377	T	0.662	1.968	12.54	1.56	0.843	0.946	7.029	0.510	0.0567506986057	7.7e-05	.	0.0002	0	0.0003	0	0	0.0003	0.0022	0	0.0001617	25	154602	rs368570187	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	9.501e-05	0.0003	0.0002	0	0.0004	0	0	1.872e-05	0.0007	0.0001	0.0003	0	0.0001	0.0001	8.994e-05	0.0001	0.0002	7.581e-05	6.285e-05	0.0001	8.877e-05	4.827e-05	0	0.0002	0	0	0	0	0.0002	0	0	0.548	0.23360	T	0.892	0.11371	T	0.027	0.27452	B	0.019	0.18783	B	0.053907	0.22768	N	0.487137	1	0.81001	D	0.595	0.15482	N	-2.14	0.90210	D	0.38	0.04456	N	0.238	0.37820	-0.4926	0.68916	T	0.377	0.73475	T	10	0.09524587	0.16997	T	0.056751	0.66719	D	0.510	0.78971	.	.	0.946273918268	0.94570	0.2500943247005564	0.24923	0.0212270053355	0.02100	0.321236610413	0.13609	T	0.226125	0.59106	T	-0.0926779	0.37635	T	-0.0367516	0.67920	D	0.0222239416934744	0.00934	T	0.913609	0.69252	D	0.06234476	0.13010	0.07985752	0.18014	0.10083128	0.23813	0.08153842	0.18536	-8.318	0.64403	D	.	.	0.116	0.52102	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.674096	0.34869	19.75	0.95515790601948136	0.27127	0.40542	0.26460	N	AEFBI	0.100929	0.20283	N	-0.664240270951083	0.17047	0.8738652	-0.477632124800232	0.22770	1.238479	0.255853356935096	0.18733	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	1.56	0.22423	1.153000	0.31287	2.182000	0.31137	0.549000	0.26987	0.996000	0.39380	0.995000	0.32472	0.865000	0.41091	0.0:0.547:0.0:0.453	7.029	0.24133	436	0.80373	Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain;.;Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain;Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain;.;Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain;.;.;Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain;Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.02381	1489.98	40	chr22	28725277	.	C	T	1489.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.07;DP=829;ExcessHet=0.0000;FS=0.630;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.57;ReadPosRankSum=-5.570e-01;SOR=0.623	GT:AD:DP:GQ:PL	0/1:81,60:141:99:1504,0,1858	20	0	1	0
chr22	29060683	29060683	G	A	exonic	C22orf31	.	nonsynonymous SNV	C22orf31:NM_015370:exon2:c.C164T:p.A55V,	.	.	426	1087	8	1	0	10	0.00457875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.0	B	0.001	B	0.474	N	1.000	N	0.55	N	1.42	T	-1.016	T	0.020	T	0.082	0.288	5.561	-5.23	-0.472	-0.156	4.724	0.000	.	0.0074	0.00279553	0.0071	0.0024	0.0028	0	0.0175	0.0098	0.0143	0.0009	0.0068822	1064	154602	rs35968360	0.0092	0.0092	0.0093	0.0091	0.0104	0.0091	0.0090	0.0102	0.0102	0.0013	0.0045	0.0035	0	0.0185	0.0036	0.0104	0.0075	0.0011	0.0081	0.0081	0.0075	0.0086	0.0116	0.0077	0.0076	0.0109	0.0106	0.0016	0.0022	0.0084	0.0035	0	0.0208	0.0068	0.0116	0.0043	0.0008	0.233	0.18122	T	0.338	0.18125	T	0.0	0.02946	B	0.001	0.04355	B	0.474249	0.04943	N	1.306580	1	0.08975	N	0.805	0.20218	L	1.42	0.33189	T	-1.03	0.27052	N	0.079	0.05414	-1.0165	0.24852	T	0.020	0.08360	T	10	0.0035936534	0.00065	T	.	.	.	0.000	0.00003	.	.	0.0551355673512	0.04727	0.0346266740035066	0.03410	0.0212160073365	0.02100	.	.	.	0.004349	0.03758	T	-0.683536	0.00046	T	-0.742304	0.03794	T	0.00127155972297243	0.00013	T	0.40156	0.10241	T	0.03113404	0.02898	0.05029356	0.07865	0.03113404	0.02897	0.05029356	0.07864	-3.687	0.19127	T	.	.	0.084	0.09578	B	.	.	-0.054653	0.03919	0.867	0.78356953682642005	0.12266	0.02878	0.07656	N	AEFDBI	0.068778	0.13583	N	-1.5162220981235	0.01742	0.07630729	-1.56784835080549	0.01856	0.08457688	0.987366404329725	0.31248	0.497415	0.19182	0	0.59043	0.45803	0	0.514364	0.09456	0	0.613276	0.41899	0	.	.	5.06	-5.23	0.02584	-0.147000	0.10218	-0.758000	0.07548	-0.875000	0.02511	0.000000	0.06391	0.000000	0.08366	0.029000	0.12982	0.2382:0.0:0.2458:0.516	4.724	0.12312	527	0.73864	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1428.98	33	chr22	29060683	.	G	A	1428.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.237e+00;DP=822;ExcessHet=0.0000;FS=1.594;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=-5.720e-01;SOR=0.508	GT:AD:DP:GQ:PL	0/1:48,55:103:99:1443,0,1283	20	0	1	0
chr22	36141727	36141727	C	T	exonic	APOL3	.	nonsynonymous SNV	APOL3:NM_145640:exon3:c.G682A:p.A228T	.	.	420	1018	81	3	0	87	0.0409797	.	.	705913	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.38	T	0.788	P	0.397	B	0.363	N	1.000	N	-0.315	N	3.77	T	-0.885	T	0.005	T	0.277	1.181	9.803	-0.313	-0.036	-0.458	8.410	0.074	.	0.0016	0.00479233	0.0070	0.0008	0.0023	0	0.0005	0.0038	0.0133	0.0327	0.0061254	947	154602	rs142057520	0.0045	0.0045	0.0036	0.0055	0.0304	0.0044	0.0044	0.0294	0.0290	0.0005	0.0032	0.0141	7.558e-05	0.0003	0.0213	0.0026	0.0063	0.0304	0.0032	0.0032	0.0029	0.0036	0.0284	0.0030	0.0029	0.0245	0.0231	0.0005	0.0066	0.0036	0.0092	0	0.0005	0.0238	0.0031	0.0071	0.0284	0.169	0.22920	T	0.417	0.14241	T	0.788	0.44546	P	0.397	0.44399	B	0.363263	0.13638	N	0.721939	1	0.08975	N	0.565	0.15224	N	3.77	0.03863	T	-1.02	0.46503	N	0.096	0.07673	-0.8850	0.49357	T	0.005	0.01725	T	10	0.0064413548	0.00146	T	.	.	.	0.074	0.21613	.	.	0.132336055621	0.12781	0.2831281995449334	0.28225	0.165414910226	0.18654	0.269489645958	0.06074	T	0.00967	0.08788	T	-0.61773	0.00114	T	-0.637106	0.09882	T	0.00338090782887009	0.00036	T	0.429857	0.18668	T	0.05087492	0.09258	0.053812385	0.09136	0.05087492	0.09257	0.053812385	0.09136	-5.036	0.42379	T	.	.	0.093	0.24396	B	.;.;.;.;.	.;.;.;.;.	-1.301766	0.00437	0.009	0.79448850851242914	0.12746	0.01032	0.03867	N	AEFDGBI	0.058757	0.11046	N	-1.11327166648079	0.06406	0.2947806	-1.19366562473892	0.06015	0.2882774	0.926062391168158	0.26838	0.67177	0.52595	0	0.702456	0.74545	0	0.491513	0.07944	0	0.635551	0.53088	0	.	.	4.3	-0.313	0.12121	-1.049000	0.03625	-15.654000	0.00347	-1.437000	0.01108	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6561:0.0:0.3439	8.410	0.31799	507	0.75469	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	5152.68	35	chr22	36141727	.	C	T	5152.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-9.920e-01;DP=1479;ExcessHet=0.3300;FS=2.813;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=14.72;ReadPosRankSum=0.535;SOR=0.653	GT:AD:DP:GQ:PL	0/1:60,61:121:99:1727,0,1697	18	0	3	0
chr22	36227959	36227959	C	T	exonic	APOL2	.	nonsynonymous SNV	APOL2:NM_030882:exon5:c.G459A:p.M153I	.	.	27	1464	30	1	0	32	0.0108108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.126	B	0.096	B	0.028	N	1.000	N	0.895	L	4.14	T	-0.932	T	0.009	T	0.085	-0.138	3.324	-3.79	-0.836	-2.301	8.579	0.023	0.00233605697159	0.0009	0.00179712	0.0022	0	0.0005	0	0.0003	0.0016	0.0011	0.0087	0.0020634	319	154602	rs200488207	0.0016	0.0016	0.0013	0.0020	0.0094	0.0016	0.0015	0.0089	0.0087	8.961e-05	0.0010	7.652e-05	0	0.0010	0.0071	0.0012	0.0021	0.0094	0.0010	0.0010	0.0010	0.0011	0.0079	0.0009	0.0008	0.0059	0.0052	0.0002	0	0.0007	0	0	0.0005	0.0034	0.0013	0.0014	0.0079	0.334	0.12961	T	0.559	0.10138	T	.	.	.	.	.	.	0.027806	0.01674	N	2.001260	1	0.08975	N	.	.	.	4.14	0.02839	T	-0.66	0.19085	N	0.046	0.02861	-0.9321	0.43829	T	0.009	0.03011	T	10	0.010323375	0.00230	T	0.002336	0.04507	T	0.023	0.04649	0.485	0.56780	0.0716867268079	0.06686	0.16648136821727322	0.16568	0.101037800964	0.11422	0.28577670455	0.08311	T	9.07E-4	0.00463	T	-0.701736	0.00036	T	-0.774798	0.02614	T	0.0123231575730099	0.00200	T	0.270573	0.04555	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.288	0.54064	B	.;.;.	.;.;.	-2.863662	0.00013	0.001	0.54460281740649141	0.05142	0.00572	0.02591	N	AEFGBI	0.036512	0.04877	N	-1.31215000778755	0.03535	0.1580791	-1.42177051027157	0.03035	0.1408186	0.987154519355852	0.31196	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.66	-3.79	0.04037	-2.478000	0.01061	-12.543000	0.00517	-0.447000	0.05153	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4315:0.0:0.5685	8.579	0.32779	619	0.66147	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3363.11	39	chr22	36227959	.	C	T	3363.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.669;DP=1109;ExcessHet=0.1072;FS=4.688;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.88;ReadPosRankSum=1.27;SOR=0.706	GT:AD:DP:GQ:PL	0/1:67,67:134:99:1721,0,1971	19	0	2	0
chr22	36316560	36316560	G	C	exonic	MYH9	.	nonsynonymous SNV	MYH9:NM_002473:exon12:c.C1337G:p.S446C,	Deafness, autosomal dominant 17, Autosomal dominant;Epstein syndrome, Autosomal dominant;Fechtner syndrome, Autosomal dominant;Macrothrombocytopenia and progressive sensorineural deafness, Autosomal dominant;May-Hegglin anomaly, Autosomal dominant;Sebastian syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.839	P	0.211	B	0.000	D	1.000	D	2.625	M	-2.36	D	0.426	D	0.660	D	0.853	4.564	24.7	5.1	2.538	9.869	18.547	0.692	0.324217944934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	8.688e-05	1.362e-06	0	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.113	0.36901	T	0.839	0.46454	P	0.211	0.37346	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.15	0.60148	M	-2.36	0.88143	D	-4.71	0.79915	D	0.878	0.87590	0.426	0.89483	D	0.660	0.88197	D	10	0.9259001	0.91938	D	0.324218	0.91564	D	0.692	0.88820	0.645	0.78224	0.961098647398	0.96068	0.8395035233604805	0.83910	2.00279492732	0.93841	0.889070630074	0.95144	D	0.822647	0.95680	D	0.384396	0.88989	D	0.314382	0.88851	D	0.996383428573608	0.89236	D	0.944506	0.78979	D	0.92190284	0.93432	0.7688183	0.86348	0.92190284	0.93433	0.7688183	0.86349	-11.156	0.80506	D	0.8877937243935591	0.94347	0.351	0.56631	A	.	.	4.590653	0.72606	25.9	0.99319532239500308	0.59317	0.97062	0.72468	D	AEFBHCI	0.962230	0.98376	D	0.558250758971841	0.70586	5.523309	0.579599439697102	0.73481	5.977167	0.999999999999999	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.1	5.1	0.68917	10.003000	0.99689	7.593000	0.61311	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.877000	0.41881	0.0:0.0:1.0:0.0	18.547	0.91003	492	0.76569	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	1924.07	73	chr22	36316560	.	G	C	1924.07	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-3.731e+00;DP=1544;ExcessHet=1.7912;FS=261.121;InbreedingCoeff=-0.1672;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=3.69;ReadPosRankSum=1.93;SOR=9.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,33:98:99:0|1:36316559_G_T:593,0,2413:36316559	15	0	6	0
chr22	37723688	37723688	C	T	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_001039141:exon7:c.C1132T:p.P378S,	Deafness, autosomal recessive 28, Autosomal recessive	.	0	1514	7	1	0	9	0.00296345	.	.	1213503	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.045	B	0.024	B	.	.	1.000	N	1.39	L	2.03	T	-1.003	T	0.038	T	0.179	0.442	6.401	-0.167	-0.098	0.070	4.692	0.016	0.00180592756995	0.0008	0.000798722	0.0010	0.0002	0.0005	0	0.0005	0.0012	0.0011	0.0021	0.0008667	134	154602	rs183024099	0.0007	0.0007	0.0006	0.0007	0.0035	0.0006	0.0006	0.0023	0.0019	5.974e-05	0.0003	7.652e-05	0	0.0004	0.0035	0.0006	0.0009	0.0023	0.0006	0.0006	0.0005	0.0007	0.0023	0.0005	0.0004	0.0013	0.0010	0.0001	0	0.0003	0	0	0.0005	0	0.0009	0.0014	0.0023	0.061	0.37118	T	0.817	0.03863	T	0.045	0.21781	B	0.024	0.20255	B	.	.	.	.	1	0.08975	N	1.13	0.28900	L	2.03	0.20959	T	-0.59	0.17624	N	0.076	0.05037	-1.0034	0.28933	T	0.038	0.16548	T	9	0.0077746212	0.00177	T	0.001806	0.03089	T	0.016	0.02506	.	.	0.223847106136	0.22009	0.04789874257510578	0.04732	0.117284125893	0.13220	0.193930521607	0.00302	T	0.013988	0.11991	T	-0.573058	0.00212	T	-0.602102	0.12634	T	0.000805022622784938	0.00007	T	0.435556	0.11926	T	0.028344397	0.02157	0.039629165	0.04098	0.029824128	0.02540	0.047284674	0.06776	-4.377	0.29244	T	.	.	0.076	0.06069	B	.;.	.;.	0.062877	0.04731	1.363	0.6690620911893076	0.08196	0.06183	0.12167	N	AEFBCI	0.021011	0.00889	N	-1.01697570965288	0.08251	0.3862314	-1.13209244568928	0.07094	0.343778	0.0187579447496675	0.13093	0.631515	0.41029	0	0.588066	0.40923	0	0.697927	0.64325	0	0.586402	0.36253	0	.	.	2.35	-0.167	0.12693	0.058000	0.14178	-0.203000	0.10926	0.598000	0.34611	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.6263:0.2253:0.1484	4.692	0.12168	910	0.22284	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	6076.98	137	chr22	37723688	.	C	T	6076.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=2446;ExcessHet=0.0000;FS=3.272;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=-9.340e-01;SOR=0.478	GT:AD:DP:GQ:PL	0/1:205,233:438:99:6091,0,5263	20	0	1	0
chr22	40924482	40924482	G	A	exonic	XPNPEP3	.	nonsynonymous SNV	XPNPEP3:NM_022098:exon9:c.G1357A:p.G453S,	Nephronophthisis-like nephropathy 1, Autosomal recessive	YES	.	.	.	.	.	.	.	1.0000	0.994	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.37	H	-1.74	D	0.988	D	0.849	D	0.964	4.893	28.1	5.47	2.578	9.543	19.334	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs267607179	5.473e-06	5.472e-06	2.723e-06	8.251e-06	0.0002	2.35e-06	1.7e-06	9.24e-06	4.56e-06	0	0	0	0	1.872e-05	0.0002	1.799e-06	1.656e-05	3.479e-05	6.576e-06	6.568e-06	0	1.347e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.098171	1	0.81001	D	4.62	0.99303	H	-1.74	0.83413	D	-5.63	0.86836	D	0.906	0.90704	0.988	0.96986	D	0.849	0.94974	D	10	0.98346245	0.98485	D	0.247604	0.88976	D	0.934	0.98489	0.852	0.95318	0.904525955387	0.90357	0.9212264742188471	0.92098	0.652231730705	0.58424	0.551191329956	0.46025	T	0.728425	0.92379	D	0.336942	0.85632	D	0.427746	0.92979	D	0.997047245502472	0.90642	D	0.998195	0.99150	D	0.97481155	0.98690	0.945559	0.98125	0.97481155	0.98690	0.945559	0.98126	-12.305	0.86305	D	.	.	0.822	0.78309	P	.	.	8.444176	0.97573	37	0.99797779077841675	0.88283	0.99851	0.99833	D	AEFBI	0.940795	0.94322	D	1.02819390529723	0.96547	14.83031	0.894058186485324	0.95310	13.50065	0.999999998908083	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.47	5.47	0.80345	9.628000	0.97812	11.739000	0.95154	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.836000	0.39433	0.0:0.0:1.0:0.0	19.334	0.94297	255	0.89985	Peptidase M24	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1477.98	34	chr22	40924482	.	G	A	1477.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.660;DP=839;ExcessHet=0.0000;FS=3.045;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.26;ReadPosRankSum=-1.355e+00;SOR=0.471	GT:AD:DP:GQ:PL	0/1:80,64:144:99:1492,0,1964	20	0	1	0
chr22	42556543	42556543	T	G	exonic	SERHL2	.	nonsynonymous SNV	SERHL2:NM_001284334:exon4:c.T186G:p.D62E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79	T	0.821	P	0.441	B	0.002	N	1.000	N	1.315	L	2.21	T	-0.999	T	0.032	T	0.212	-0.580	1.393	-2.85	-0.806	-1.272	13.100	0.034	0.00832094364314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.22053	T	0.309	0.27503	T	0.247	0.31125	B	0.162	0.34839	B	0.001569	0.38612	N	0.282552	1	0.81001	D	.	.	.	2.21	0.18414	T	-1.49	0.39314	N	0.24	0.29544	-0.9991	0.30171	T	0.032	0.13854	T	10	0.09874669	0.17874	T	0.008321	0.22029	T	0.034	0.08419	0.426	0.47185	0.0138822411134	0.00435	0.4609707125075393	0.46015	1.10801927807	0.77958	0.357379436493	0.19003	T	0.012546	0.11008	T	-0.274701	0.11238	T	-0.632365	0.10235	T	0.54435122013092	0.34266	D	0.765423	0.44184	T	0.054485157	0.10461	0.05899406	0.10998	0.054485157	0.10460	0.05899406	0.10998	-5.382	0.40746	T	.	.	0.151	0.43748	B	.;.;.;.	.;.;.;.	0.944701	0.13207	9.706	0.6887751483704877	0.08795	0.14419	0.18393	N	AEFGI	0.179759	0.30705	N	-1.20641032318746	0.04905	0.2224121	-1.28055921703542	0.04693	0.2219803	0.532846911749338	0.21189	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	3.1	-2.85	0.05392	-0.976000	0.03896	-3.158000	0.03012	-0.735000	0.03699	0.469000	0.26714	0.000000	0.08366	0.069000	0.16583	0.0:0.6645:0.0:0.3355	13.100	0.58628	255	0.89985	Alpha/beta hydrolase fold-1;Alpha/beta hydrolase fold-1|Alpha/beta hydrolase fold-1;Alpha/beta hydrolase fold-1|Alpha/beta hydrolase fold-1;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09375	507.45	36	chr22	42556543	.	T	G	507.45	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-2.766e+00;DP=1305;ExcessHet=0.3300;FS=195.461;InbreedingCoeff=-0.1760;MLEAC=4;MLEAF=0.125;MQ=54.99;MQRankSum=-9.840e-01;QD=1.67;ReadPosRankSum=1.80;SOR=9.967	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:97,35:132:65:.:.:65,0,1571	13	0	3	5
chr22	45289117	45289117	G	A	exonic	UPK3A	.	stopgain	UPK3A:NM_006953:exon4:c.G545A:p.W182X,	.	.	0	1519	3	0	0	3	0.000986518	.	.	338429	not_provided|Renal_hypodysplasia/aplasia_1	MedGen:C3661900|MONDO:MONDO:0024519,MedGen:C1619700,OMIM:191830,Orphanet:411709	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.001	D	1.000	D	.	.	.	.	.	.	.	.	.	4.994	29.3	4.82	2.241	4.397	13.490	.	.	0.0002	0.00658946	0.0054	9.792e-05	0.0075	0.0234	0.0310	0.0021	0.0090	0.0007	0.0046118	713	154602	rs147609981	0.0022	0.0022	0.0023	0.0021	0.0217	0.0021	0.0021	0.0205	0.0200	2.987e-05	0.0077	0	0.0217	0.0272	0	0.0003	0.0027	0.0011	0.0039	0.0040	0.0027	0.0052	0.0255	0.0037	0.0036	0.0220	0.0206	9.625e-05	0	0.0061	0	0.0255	0.0286	0	0.0008	0.0043	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.000689	0.42383	D	0.168090	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.851	0.84713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233259	0.77027	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	10.526637	0.99776	48	0.99667700016470107	0.78394	0.83062	0.42212	D	AEFDBI	0.089115	0.18063	N	0.753025657984188	0.83101	7.930153	0.608318267343426	0.75541	6.329163	0.999915265968544	0.45857	0.554377	0.28877	0	0.491513	0.07743	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.82	4.82	0.61641	4.888000	0.62855	11.495000	0.92942	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.564000	0.30507	0.0:0.0:1.0:0.0	13.490	0.60843	964	0.07719	.	.	.	.	.	rs147609981	Likely benign	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	1	0	0.02381	1415.98	38	chr22	45289117	.	G	A	1415.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.030e+00;DP=786;ExcessHet=0.0000;FS=1.900;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.63;ReadPosRankSum=-2.810e-01;SOR=0.436	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,38:76:99:0|1:45289117_G_A:1430,0,1481:45289117	20	0	1	0
chr22	46534116	46534116	C	A	exonic	CELSR1	.	nonsynonymous SNV	CELSR1:NM_001378328:exon1:c.G3055T:p.A1019S	.	.	416	1092	13	1	0	15	0.00682128	.	.	1173508	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.05	D	0.993	D	0.973	D	0.000	U	0.906	D	1.965	M	0.62	T	-0.726	T	0.059	T	0.511	3.471	17.77	4.14	2.148	7.341	16.228	0.330	.	0.0023	0.0141773	0.0131	0.0025	0.0985	0.0001	0.0044	0.0029	0.0022	0.0119	0.0128006	1979	154602	rs61737811	0.0058	0.0058	0.0060	0.0056	0.0856	0.0057	0.0057	0.0833	0.0824	0.0012	0.0856	0.0002	0	0.0064	0.0033	0.0026	0.0053	0.0119	0.0082	0.0082	0.0076	0.0088	0.0525	0.0078	0.0077	0.0494	0.0482	0.0019	0	0.0525	0	0	0.0065	0	0.0032	0.0090	0.0126	0.011	0.55530	D	0.013	0.63109	D	0.993	0.65571	D	0.973	0.72923	D	0.000003	0.62929	U	0.000000	0.90606	0.36290	D	1.495	0.37439	L	0.62	0.53302	T	-2.39	0.52612	N	0.276	0.31253	-0.7263	0.59150	T	0.059	0.24760	T	10	0.003301531	0.00057	T	.	.	.	0.330	0.65226	.	.	.	.	0.4949297392181958	0.49413	1.69652609271	0.90222	0.501089096069	0.38980	T	0.213614	0.57499	T	-0.380267	0.03104	T	-0.25046	0.49771	T	0.0167307590500315	0.00430	T	0.917308	0.70348	D	0.32108778	0.54731	0.30106083	0.56139	0.32108778	0.54731	0.30106083	0.56138	-6.869	0.53070	T	.	.	0.170	0.37388	B	.	.	4.354633	0.66909	25.0	0.99747843357543564	0.84002	0.96976	0.71977	D	AEFDGBCI	0.794830	0.72242	D	0.305399013379989	0.56425	3.80721	0.31631553278169	0.56498	3.813208	0.999999999707277	0.74766	0.695654	0.57023	0	0.524598	0.11158	1	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.14	4.14	0.47821	7.595000	0.81968	7.736000	0.67890	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.857000	0.40602	0.0:1.0:0.0:0.0	16.228	0.82132	940	0.13648	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	0.02381	3376.98	85	chr22	46534116	.	C	A	3376.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.350e-01;DP=2711;ExcessHet=0.0000;FS=4.604;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.69;ReadPosRankSum=-8.560e-01;SOR=0.827	GT:AD:DP:GQ:PL	0/1:151,138:289:99:3391,0,3675	20	0	1	0
chr22	49922304	49922304	C	0	exonic	CRELD2	.	.	.	.	.	445	520	288	49	220	606	0.270687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	17831.26	36	chr22	49922304	.	C	T,*	17831.26	.	AC=10,8;AF=0.238,0.190;AN=42;BaseQRankSum=2.03;DP=1611;ExcessHet=1.2156;FS=0.561;InbreedingCoeff=0.0278;MLEAC=10,8;MLEAF=0.238,0.190;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=0.644;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,53,0:105:99:0|1:49922276_G_T:1866,0,1862,2023,2021,4044:49922276	7	1	7	0
chr22	50283844	50283844	C	T	exonic	PLXNB2	.	nonsynonymous SNV	PLXNB2:NM_001376869:exon13:c.G2410A:p.V804I	.	.	.	.	.	.	.	.	.	.	.	2758491	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.18	T	0.982	D	0.593	P	0.046	N	0.970	N	1.32	L	-1.06	T	-0.537	T	0.377	T	0.199	2.988	15.96	4.53	2.349	0.051	12.617	0.282	0.0610915042543	0.0002	.	0.0001	0	0	0	0	0.0002	0	0	0.00011	17	154602	rs370412897	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	2.994e-05	6.769e-05	0	0	7.612e-05	0	0.0002	0.0001	3.503e-05	9.217e-05	9.197e-05	0.0001	6.742e-05	0.0002	5.538e-05	4.373e-05	0.0001	8.886e-05	0	0.0011	0	0	0	0	0	0.0002	0	0	0.198	0.20532	T	0.265	0.22694	T	0.982	0.60036	D	0.593	0.50536	P	0.046398	0.23444	N	0.309092	0.969678	0.25742	N	2.385	0.68708	M	-1.06	0.76819	T	-0.38	0.13418	N	0.402	0.44283	-0.5375	0.67258	T	0.377	0.73453	T	10	0.23403144	0.40434	T	0.061092	0.68219	D	0.282	0.59981	.	.	0.566519228123	0.56316	0.2681231702254371	0.26725	0.383503995499	0.39674	0.535775959492	0.43849	T	0.151054	0.49082	T	-0.263376	0.12509	T	-0.341798	0.40140	T	0.0791994439550167	0.09884	T	0.855414	0.54290	D	0.13010325	0.30366	0.09696632	0.23061	0.13010325	0.30366	0.09696632	0.23060	-4.875	0.35453	T	.	.	0.081	0.08081	B	.;.	.;.	2.719854	0.35575	19.93	0.99740802392350847	0.83482	0.30942	0.24211	N	AEFDBI	0.166320	0.29290	N	0.0549185789867772	0.44370	2.712238	0.0123038679393983	0.40285	2.401761	0.996962479968142	0.35156	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.53	4.53	0.55009	1.293000	0.32959	1.037000	0.23526	0.545000	0.25583	0.187000	0.24151	0.473000	0.25062	0.522000	0.29520	0.0:1.0:0.0:0.0	12.617	0.55940	616	0.66398	IPT domain|IPT domain;IPT domain|IPT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1549.98	47	chr22	50283844	.	C	T	1549.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.86;DP=970;ExcessHet=0.0000;FS=2.310;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.40;ReadPosRankSum=-1.993e+00;SOR=0.947	GT:AD:DP:GQ:PL	0/1:63,62:125:99:1564,0,1449	20	0	1	0
chrX	3084371	3084371	C	T	exonic	ARSF	.	nonsynonymous SNV	ARSF:NM_001201538:exon6:c.C535T:p.R179C	.	.	424	1095	2	1	0	4	0.00182315	.	.	3214361	ARSF-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.19	T	0.19	B	0.111	B	0.425	U	1.000	N	0.395	N	-3.29	D	-0.437	T	0.526	D	0.354	2.002	12.65	1.43	0.330	0.395	0.343	0.289	0.0105141634596	0.0032	0.0015894	0.0024	0.0004	0.0002	0	0.0007	0.0034	0	0.0038	0.0022768	352	154602	rs146302062	0.0039	0.0039	0.0039	0.0040	0.0047	0.0038	0.0038	0.0046	0.0045	0.0004	0.0007	0	3.311e-05	0.0009	0.0010	0.0047	0.0022	0.0036	0.0025	0.0025	0.0028	0.0019	0.0043	0.0023	0.0022	0.0038	0.0036	0.0005	0.0015	0.0018	0	0.0003	0.0008	0	0.0043	0.0007	0.0042	0.15	0.24661	T	0.053	0.47336	T	0.19	0.29379	B	0.111	0.31539	B	0.425492	0.12816	U	0.735614	1	0.08975	N	1.28	0.32218	L	-3.29	0.93740	D	-2.27	0.50666	N	0.091	0.07125	-0.4366	0.70843	T	0.526	0.82350	D	10	0.008455098	0.00192	T	0.010514	0.27131	T	0.289	0.60808	.	.	0.63470690541	0.63171	0.6733198435952007	0.67269	0.538022590634	0.51072	0.278664797544	0.07307	T	0.607887	0.87529	D	-0.289239	0.09713	T	-0.189087	0.55675	T	0.0208307139086772	0.00783	T	0.725627	0.33984	T	0.104330406	0.24663	0.11619517	0.28049	0.104330406	0.24663	0.11619517	0.28049	-6.379	0.49345	T	.	.	0.323	0.58251	B	.;.	.;.	1.591157	0.20349	14.71	0.99701162249416164	0.80660	0.01054	0.03923	N	AEFBI	.	.	.	.	.	.	.	.	.	5.0281473643528E-5	0.03989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.44	1.43	0.21585	0.500000	0.22270	-2.870000	0.03277	0.547000	0.25779	0.016000	0.19238	0.000000	0.08366	0.007000	0.07825	0.3018:0.3054:0.1588:0.234	0.343	0.00314	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	1	0	0	0	0.04762	3576.08	34	chrX	3084371	.	C	T	3576.08	.	AC=2;AF=0.048;AN=42;DP=813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.83;SOR=0.877	GT:AD:DP:GQ:PL	1/1:0,116:116:99:3604,347,0	20	1	0	0
chrX	7843768	7843768	-	CTGTGTGGAT	exonic	VCX	.	frameshift insertion	VCX:NM_013452:exon3:c.373_374insCTGTGTGGAT:p.S125Tfs*128,	.	.	576	718	155	12	61	240	0.110836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	0.0001921	5	26028	rs768077574	0.0023	0.0032	0.0029	0.0006	0.0052	0.0022	0.0021	0.0030	0.0028	0.0015	0.0023	0.0057	0.0036	0.0045	0.0052	0.0020	0.0039	0.0010	0.0015	0.0055	0.0019	0	0.0022	0.0013	0.0012	0.0015	0.0013	0.0011	0.0028	0.0007	0.0022	0.0020	0.0011	0.0086	0.0018	0.0014	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	580.02	50	chrX	7843768	.	A	ACTGT,ACTGTGTGGAT	580.02	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-3.087e+00;DP=2172;ExcessHet=0.3300;FS=52.634;InbreedingCoeff=-0.0770;MLEAC=2,1;MLEAF=0.048,0.024;MQ=34.60;MQRankSum=0.657;QD=8.41;ReadPosRankSum=-1.973e+00;SOR=1.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,4,0:12:99:0|1:7843706_T_C:125,0,324,149,336,485:7843706	18	0	2	0
chrX	7843976	7843976	C	0	exonic	VCX	.	.	.	.	.	638	189	366	281	48	976	0.710567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7353	86037.69	422	chrX	7843976	.	C	T,*,CAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	86037.69	.	AC=25,2,1;AF=0.735,0.059,0.029;AN=34;BaseQRankSum=2.89;DP=5914;ExcessHet=0.7503;FS=2.774;InbreedingCoeff=0.0476;MLEAC=29,2,1;MLEAF=0.853,0.059,0.029;MQ=49.09;MQRankSum=-9.050e+00;QD=21.65;ReadPosRankSum=1.63;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,79,0,0:79:99:.:.:2143,236,0,2143,236,2143,2143,236,2143,2143	0	8	6	4
chrX	7843976	7843976	-	AGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	exonic	VCX	.	frameshift insertion	VCX:NM_013452:exon3:c.581_582insAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT:p.S195Gfs*73,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.875e-05	0.0002	0	0	0	0	0	0	.	.	.	.	3.738e-06	8.672e-06	5.615e-06	0	6.53e-05	6.2e-07	2.3e-07	.	.	0	6.53e-05	0	0	0	0	2.552e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7353	86037.69	422	chrX	7843976	.	C	T,*,CAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	86037.69	.	AC=25,2,1;AF=0.735,0.059,0.029;AN=34;BaseQRankSum=2.89;DP=5914;ExcessHet=0.7503;FS=2.774;InbreedingCoeff=0.0476;MLEAC=29,2,1;MLEAF=0.853,0.059,0.029;MQ=49.09;MQRankSum=-9.050e+00;QD=21.65;ReadPosRankSum=1.63;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,79,0,0:79:99:.:.:2143,236,0,2143,236,2143,2143,236,2143,2143	0	8	6	4
chrX	8466274	8466274	A	-	exonic	VCX3B	.	frameshift deletion	VCX3B:NM_001001888:exon3:c.632delA:p.E212Nfs*3,	.	.	519	994	7	1	1	10	0.00450676	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0004	0.0001	0	0.0014	0.0003	0.0017	0.0001	3.84e-05	1	26028	rs745900726	0.0017	0.0021	0.0023	0.0005	0.0014	0.0017	0.0016	0.0014	0.0013	0.0006	0.0014	0.0005	0	0.0124	0.0004	0.0014	0.0023	0.0003	0.0073	0.0075	0.0088	0.0003	0.0086	0.0067	0.0065	0.0079	0.0076	0.0050	0.0072	0.0054	0.0026	0	0.0101	0.0315	0.0086	0.0034	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4187.96	39	chrX	8466273	.	GA	G	4187.96	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.253;DP=1511;ExcessHet=0.0000;FS=14.491;InbreedingCoeff=-0.0260;MLEAC=1;MLEAF=0.024;MQ=50.98;MQRankSum=1.29;QD=15.69;ReadPosRankSum=1.43;SOR=0.865	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,112:267:99:0|1:8466273_GA_G:4202,0,5806:8466273	20	0	1	0
chrX	8466277	8466335	AACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAA	-	exonic	VCX3B	.	frameshift deletion	VCX3B:NM_001001888:exon3:c.635_693del:p.E212Gfs*58,	.	.	523	990	7	1	1	10	0.00452489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0004	0.0001	0	0.0014	0.0003	0.0017	0.0001	.	.	.	.	0.0013	0.0020	0.0017	0.0005	0.0011	0.0013	0.0013	0.0010	0.0010	0.0006	0.0010	0.0003	0	0.0107	0	0.0011	0.0017	0.0002	0.0059	0.0073	0.0071	0.0003	0.0066	0.0054	0.0052	0.0059	0.0057	0.0051	0.0047	0.0043	0.0030	0	0.0093	0.0352	0.0066	0.0022	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3971.96	39	chrX	8466276	.	GAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAA	G	3971.96	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.012;DP=1610;ExcessHet=0.0000;FS=7.512;InbreedingCoeff=-0.0260;MLEAC=1;MLEAF=0.024;MQ=53.12;MQRankSum=-1.777e+00;QD=10.88;ReadPosRankSum=2.26;SOR=1.017	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:250,115:365:99:0|1:8466273_GA_G:3986,0,9781:8466273	20	0	1	0
chrX	8466326	8466326	C	0	exonic	VCX3B	.	.	.	.	.	615	751	69	79	8	235	0.13129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	8691.77	20	chrX	8466326	.	C	T,*	8691.77	.	AC=2,1;AF=0.056,0.028;AN=36;BaseQRankSum=0.010;DP=2396;ExcessHet=0.3672;FS=1.792;InbreedingCoeff=0.1135;MLEAC=2,1;MLEAF=0.056,0.028;MQ=52.92;MQRankSum=-3.640e-01;QD=8.65;ReadPosRankSum=3.18;SOR=0.847	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:250,0,115:365:99:0|1:8466273_GA_G:3986,4737,14865,0,10128,9781:8466273	15	0	2	3
chrX	10469688	10469688	G	A	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.C1294T:p.L432F	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.822e-06	1.821e-06	1.361e-06	2.752e-06	1.847e-05	3e-07	1.1e-07	.	.	0	0	0	0	0	0	1.188e-06	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.06	0.03175	.	.	.	.	.	.	.	0.049869597	0.04636	T	.	.	.	.	.	.	.	0.228066490088	0.22430	.	.	.	.	.	.	.	0.006829	0.06256	T	-0.218282	0.18229	T	-0.551324	0.17198	T	.	.	.	0.334067	0.07092	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31708	B	.	.	1.071713	0.14539	11.11	0.85981199067195402	0.16236	0.02091	0.06209	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999612355279754	0.40981	.	.	.	.	.	.	.	.	.	.	.	.	0.283609	0.34178	4.85	0.652	0.16995	0.121000	0.15496	0.832000	0.21958	0.676000	0.76740	0.066000	0.21956	0.096000	0.22607	0.995000	0.73285	0.4727:0.0:0.3766:0.1507	5.068	0.13928	505	0.75648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	2843.69	154	chrX	10469688	.	G	A,C	2843.69	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=-4.097e+00;DP=2076;ExcessHet=7.7275;FS=136.517;InbreedingCoeff=-0.3621;MLEAC=10,1;MLEAF=0.238,0.024;MQ=60.00;MQRankSum=0.00;QD=2.08;ReadPosRankSum=0.424;SOR=11.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,17,0:95:80:0|1:10469688_G_A:80,0,2772,311,2818,3129:10469688	10	0	10	0
chrX	10469688	10469688	G	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.C1294G:p.L432V	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.066	0.03841	.	.	.	.	.	.	.	0.056298643	0.06289	T	.	.	.	.	.	.	.	0.327401308167	0.32341	.	.	.	.	.	.	.	0.002243	0.01642	T	-0.246398	0.14543	T	-0.59171	0.13519	T	.	.	.	0.329867	0.06895	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.20391	B	.	.	2.708854	0.35399	19.89	0.75207624297957498	0.10986	0.17709	0.19954	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999612355279754	0.40981	.	.	.	.	.	.	.	.	.	.	.	.	0.283609	0.34178	4.85	0.652	0.16995	0.121000	0.15496	0.832000	0.21958	0.676000	0.76740	0.066000	0.21956	0.096000	0.22607	0.995000	0.73285	0.4727:0.0:0.3766:0.1507	5.068	0.13928	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2619	2843.69	154	chrX	10469688	.	G	A,C	2843.69	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=-4.097e+00;DP=2076;ExcessHet=7.7275;FS=136.517;InbreedingCoeff=-0.3621;MLEAC=10,1;MLEAF=0.238,0.024;MQ=60.00;MQRankSum=0.00;QD=2.08;ReadPosRankSum=0.424;SOR=11.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,17,0:95:80:0|1:10469688_G_A:80,0,2772,311,2818,3129:10469688	10	0	10	0
chrX	10469690	10469690	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1292G:p.Y431C	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	0.0842	0.246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0089	0.0017	0	0.0014	0.0011	0.0011	0.0013	0.0013	0.0011	5.717e-05	0.0005	0.0003	0	0	0.0014	0.0011	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.611	0.62781	.	.	.	.	.	.	.	0.5160695	0.62373	D	.	.	.	.	.	.	.	0.702451314445	0.69986	.	.	.	.	.	.	.	0.029078	0.20915	T	-0.0458167	0.45080	T	-0.303589	0.44343	T	.	.	.	0.416058	0.10924	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.48469	B	.	.	1.822216	0.23154	15.91	0.93045119261725329	0.22651	0.71697	0.35125	D	AEFBI	.	.	.	.	.	.	.	.	.	0.99999824567079	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.483522	0.39157	5.6	5.6	0.84997	3.630000	0.54014	4.911000	0.45953	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0763:0.0:0.9237	10.887	0.46181	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2895	2549.41	154	chrX	10469690	.	T	C	2549.41	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-3.832e+00;DP=2194;ExcessHet=7.7275;FS=128.174;InbreedingCoeff=-0.4080;MLEAC=12;MLEAF=0.316;MQ=60.00;MQRankSum=0.00;QD=1.85;ReadPosRankSum=0.463;SOR=11.234	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,17:95:80:0|1:10469688_G_A:80,0,2772:10469688	8	0	11	2
chrX	10469693	10469693	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1289G:p.E430G	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	1.0000	0.956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0.0002	0	0.0002	0.0001	0.0001	0.0002	0.0002	0.0001	0	0.0002	0	0	0	0.0002	0.0002	3.742e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.32144	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.203	0.22486	.	.	.	.	.	.	.	0.24297184	0.41502	T	.	.	.	.	.	.	.	0.747603607226	0.74533	.	.	.	.	.	.	.	0.021315	0.16623	T	0.0253054	0.55096	T	-0.201427	0.54511	T	.	.	.	0.294771	0.05441	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.40457	B	.	.	5.344784	0.89672	31	0.96935891014238906	0.31676	0.98570	0.84213	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999999998814	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.899241	0.56623	5.6	5.6	0.84997	7.515000	0.80659	7.688000	0.65646	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.867	0.70064	505	0.75648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2167.81	117	chrX	10469693	.	T	C	2167.81	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-4.149e+00;DP=2021;ExcessHet=4.7172;FS=131.479;InbreedingCoeff=-0.2861;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.93;ReadPosRankSum=0.361;SOR=11.043	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,17:91:91:0|1:10469688_G_A:91,0,2705:10469688	12	0	9	0
chrX	21657161	21657161	T	C	exonic	KLHL34	.	nonsynonymous SNV	KLHL34:NM_153270:exon1:c.A628G:p.T210A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.81	T	0.0	B	0.001	B	0.074	N	1.000	N	0.05	N	-0.61	T	-1.028	T	0.114	T	0.027	-2.082	0.006	1.87	0.090	-0.551	3.847	0.042	0.0340925544555	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.593e-06	4.553e-06	4.099e-06	5.606e-06	7.599e-05	1.35e-06	9.8e-07	1.257e-05	4.7e-06	7.599e-05	0	0	0	0	0	3.575e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.074197	0.21299	N	0.454570	1	0.08975	N	-0.69	0.01958	N	-0.61	0.71779	T	-0.02	0.07299	N	0.02	0.00308	-1.0281	0.21070	T	0.114	0.40467	T	10	0.06323266	0.08205	T	0.034093	0.55442	D	0.042	0.11227	0.306	0.27646	0.846135548866	0.84465	0.18023580858405314	0.17942	0.431046532757	0.43325	0.713771820068	0.69140	T	0.105421	0.41587	T	-0.466791	0.00890	T	-0.908289	0.00446	T	0.027783943127541	0.01657	T	0.275872	0.04729	T	0.02873615	0.02258	0.042047508	0.04918	0.02873615	0.02257	0.042047508	0.04918	-1.144	0.01174	T	.	.	0.053	0.00291	B	.	.	-0.873814	0.00970	0.038	0.29379126417453816	0.01555	0.00713	0.03014	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.419480213224407	0.20279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.76	1.87	0.24559	-0.016000	0.12550	0.046000	0.13935	-0.329000	0.05792	0.000000	0.06391	0.001000	0.17328	0.010000	0.09038	0.2101:0.4176:0.0:0.3724	3.847	0.08448	40	0.97949	BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	1058.08	36	chrX	21657161	.	T	C	1058.08	.	AC=2;AF=0.048;AN=42;DP=725;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.23;SOR=0.869	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1086,105,0	20	1	0	0
chrX	24364259	24364259	-	TGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGC:p.A543_P544insA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	4/4:0,0,0,0,41,0,0:41:99:1477,1477,1477,1477,1477,1477,1477,1477,1477,1477,125,125,125,125,0,1477,1477,1477,1477,125,1477,1477,1477,1477,1477,125,1477,1477	8	0	1	0
chrX	24364259	24364259	-	TGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGCTGC:p.A543_P544insAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	4/4:0,0,0,0,41,0,0:41:99:1477,1477,1477,1477,1477,1477,1477,1477,1477,1477,125,125,125,125,0,1477,1477,1477,1477,125,1477,1477,1477,1477,1477,125,1477,1477	8	0	1	0
chrX	24364259	24364259	-	TGCTGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGCTGCTGC:p.A543_P544insAAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	4/4:0,0,0,0,41,0,0:41:99:1477,1477,1477,1477,1477,1477,1477,1477,1477,1477,125,125,125,125,0,1477,1477,1477,1477,125,1477,1477,1477,1477,1477,125,1477,1477	8	0	1	0
chrX	24364259	24364259	-	TGCTGCTGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGCTGCTGCTGC:p.A543_P544insAAAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	4/4:0,0,0,0,41,0,0:41:99:1477,1477,1477,1477,1477,1477,1477,1477,1477,1477,125,125,125,125,0,1477,1477,1477,1477,125,1477,1477,1477,1477,1477,125,1477,1477	8	0	1	0
chrX	24364259	24364259	-	TGCTGCTGCTGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGCTGCTGCTGCTGC:p.A543_P544insAAAAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	4/4:0,0,0,0,41,0,0:41:99:1477,1477,1477,1477,1477,1477,1477,1477,1477,1477,125,125,125,125,0,1477,1477,1477,1477,125,1477,1477,1477,1477,1477,125,1477,1477	8	0	1	0
chrX	27747292	27747300	GAGGAGGAG	-	exonic	DCAF8L2	.	nonframeshift deletion	DCAF8L2:NM_001353450:exon5:c.397_405del:p.E145_E147del	.	.	532	397	66	140	387	733	0.303509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	1/1:0,31,0,0,0,0,0:31:94:1371,94,0,1371,94,1371,1371,94,1371,1371,1371,94,1371,1371,1371,1371,94,1371,1371,1371,1371,1371,94,1371,1371,1371,1371,1371	7	4	1	0
chrX	27747295	27747300	GAGGAG	-	exonic	DCAF8L2	.	nonframeshift deletion	DCAF8L2:NM_001353450:exon5:c.400_405del:p.E146_E147del	.	.	532	397	66	140	387	733	0.303509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	1/1:0,31,0,0,0,0,0:31:94:1371,94,0,1371,94,1371,1371,94,1371,1371,1371,94,1371,1371,1371,1371,94,1371,1371,1371,1371,1371,94,1371,1371,1371,1371,1371	7	4	1	0
chrX	27747298	27747300	GAG	-	exonic	DCAF8L2	.	nonframeshift deletion	DCAF8L2:NM_001353450:exon5:c.403_405del:p.E147del	.	.	532	397	66	140	387	733	0.303509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	1/1:0,31,0,0,0,0,0:31:94:1371,94,0,1371,94,1371,1371,94,1371,1371,1371,94,1371,1371,1371,1371,94,1371,1371,1371,1371,1371,94,1371,1371,1371,1371,1371	7	4	1	0
chrX	27747300	27747300	-	GAGGAG	exonic	DCAF8L2	.	nonframeshift insertion	DCAF8L2:NM_001353450:exon5:c.405_406insGAGGAG:p.E147_Q148insEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	1/1:0,31,0,0,0,0,0:31:94:1371,94,0,1371,94,1371,1371,94,1371,1371,1371,94,1371,1371,1371,1371,94,1371,1371,1371,1371,1371,94,1371,1371,1371,1371,1371	7	4	1	0
chrX	27747300	27747300	-	GAGGAGGAGGAGGAGGAG	exonic	DCAF8L2	.	nonframeshift insertion	DCAF8L2:NM_001353450:exon5:c.405_406insGAGGAGGAGGAGGAGGAG:p.E147_Q148insEEEEEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	1/1:0,31,0,0,0,0,0:31:94:1371,94,0,1371,94,1371,1371,94,1371,1371,1371,94,1371,1371,1371,1371,94,1371,1371,1371,1371,1371,94,1371,1371,1371,1371,1371	7	4	1	0
chrX	47449292	47449292	C	T	exonic	ZNF41	.	nonsynonymous SNV	ZNF41:NM_001324139:exon4:c.G220A:p.V74I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.98	T	0.458	P	0.194	B	0.881	N	1.000	N	0.695	N	6.02	T	-0.993	T	0.009	T	0.11	-2.205	0.005	-1.18	-0.425	0.106	0.571	0.019	0.00146370319484	.	.	1.141e-05	0	0	0	0	2.087e-05	0	0	6.5e-06	1	154602	rs749941036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.918	0.10517	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.06944	B	0.881272	0.07237	N	1.089820	1	0.08975	N	.	.	.	3.4	0.05642	T	-0.04	0.08971	N	0.068	0.04307	-0.9930	0.31827	T	0.009	0.03227	T	10	0.039906144	0.02516	T	0.001464	0.02215	T	0.019	0.03383	.	.	0.592080101431	0.58884	0.05226674945445359	0.05168	0.198165947777	0.22192	0.313779711723	0.12478	T	.	.	.	-0.51725	0.00456	T	-0.98077	0.00179	T	0.0431728398460497	0.04269	T	0.549145	0.18877	T	.	.	.	.	.	.	.	.	-2.889	0.09034	T	.	.	0.073	0.10159	B	.;.;.	.;.;.	0.398573	0.07698	4.374	0.14994139112519969	0.00351	0.13181	0.17710	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.0465628707433357	0.14696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.1	-1.18	0.09122	-0.927000	0.04092	-4.018000	0.02390	-0.214000	0.08267	0.000000	0.06391	0.000000	0.08366	0.966000	0.53164	0.1783:0.2547:0.174:0.393	0.571	0.00650	399	0.82780	.;.;.	.	.	.	.	.	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	0.04762	2836.08	33	chrX	47449292	.	C	T	2836.08	.	AC=2;AF=0.048;AN=42;DP=790;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.51;SOR=0.990	GT:AD:DP:GQ:PL	1/1:0,90:90:99:2864,270,0	20	1	0	0
chrX	49067949	49067949	C	T	exonic	CCDC120	.	nonsynonymous SNV	CCDC120:NM_001163321:exon10:c.C1835T:p.P612L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.969	D	0.638	P	0.014	N	0.996	D	0.69	N	.	.	-1.044	T	0.103	T	0.255	2.828	15.42	3.9	1.987	1.241	6.695	0.050	0.042665900494	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1428675734	1.934e-06	1.821e-06	1.422e-06	3.022e-06	0.0003	3.2e-07	1.2e-07	.	.	4.046e-05	0	0	0	0	0.0003	0	0	0	1.791e-05	1.742e-05	2.578e-05	0	6.451e-05	2.97e-06	1.11e-06	1.068e-05	3.99e-06	6.451e-05	0	0	0	0	0	0	0	0	0	0.041	0.41915	D	0.096	0.40747	T	0.969	0.56768	D	0.638	0.52030	P	0.014379	0.28553	N	0.329671	0.996437	0.43202	D	1.5	0.37844	L	.	.	.	0.4	0.03463	N	0.305	0.50688	-1.0440	0.16118	T	0.103	0.37994	T	9	0.17611185	0.32579	T	0.042666	0.60583	D	0.050	0.13987	0.406	0.43902	0.082315109003	0.07666	0.31644555113373757	0.31557	.	.	0.750782370567	0.74562	T	0.006611	0.06037	T	-0.113579	0.34179	T	-0.400925	0.33276	T	0.668428003787994	0.39267	D	0.873013	0.58094	D	0.067126155	0.14508	0.1240576	0.29906	0.067126155	0.14508	0.1240576	0.29906	-5.259	0.40406	T	.	.	0.097	0.29088	B	.;.;.;.;.	.;.;.;.;.	3.136333	0.42404	21.5	0.99815080158367131	0.89885	0.67373	0.33409	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.951941708750672	0.27986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.83	3.9	0.44240	1.335000	0.33444	4.607000	0.44021	0.545000	0.25583	0.999000	0.42656	1.000000	0.68203	0.913000	0.44837	0.1999:0.6095:0.1906:0.0	6.695	0.22384	14	0.98855	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1136.08	38	chrX	49067949	.	C	T	1136.08	.	AC=2;AF=0.048;AN=42;DP=724;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.9999;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.56;SOR=1.209	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1164,108,0	20	1	0	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X	.	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	0.974	N	.	.	.	.	.	.	.	.	.	2.938	15.79	0.637	0.126	1.026	4.504	.	.	.	.	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	0.6429	358994.42	659	chrX	55146104	.	G	A	358994.42	.	AC=27;AF=0.643;AN=42;BaseQRankSum=0.384;DP=14798;ExcessHet=17.4423;FS=0.000;InbreedingCoeff=-0.5620;MLEAC=27;MLEAF=0.643;MQ=60.00;MQRankSum=0.00;QD=25.13;ReadPosRankSum=0.159;SOR=0.675	GT:AD:DP:GQ:PL	1/1:70,624:694:59:17279,59,0	0	6	15	0
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N	.	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.003	B	0.001	B	0.171	N	1.000	P	-0.345	N	1.04	T	-1.045	T	0.035	T	0.025	-1.501	0.017	-1.04	-0.355	-0.019	4.225	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5238	279484.49	466	chrX	55146212	.	C	T	279484.49	.	AC=22;AF=0.524;AN=42;BaseQRankSum=2.82;DP=11864;ExcessHet=43.6797;FS=1.429;InbreedingCoeff=-0.9104;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=25.15;ReadPosRankSum=1.65;SOR=0.530	GT:AD:DP:GQ:PL	0/1:69,558:676:99:15816,0,141	0	1	20	0
chrX	55146242	55146242	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G193A:p.G65S	.	.	381	695	446	0	0	446	0.242919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.988	D	0.986	D	0.181	N	1.000	N	-0.08	N	1.06	T	-1.010	T	0.074	T	0.096	-0.199	3.032	0.436	0.049	0.532	2.954	0.094	0.00575512673883	.	.	1.14e-05	0	0	0	0	0	0	9.881e-05	0.0002199	34	154602	rs751109928	9.107e-07	9.105e-07	1.361e-06	0	1.847e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.496	0.08685	T	0.847	0.04029	T	0.988	0.62325	D	0.931	0.76916	D	0.181380	0.17093	N	0.523101	1	0.08975	N	-0.405	0.02972	N	1.06	0.39781	T	0.88	0.01688	N	0.111	0.10340	-1.0096	0.27043	T	0.074	0.29897	T	10	0.024912208	0.00703	T	0.005755	0.14922	T	0.094	0.27141	0.117	0.02508	0.124217242631	0.12060	0.06545832632961472	0.06484	0.113139730866	0.12771	0.240586742759	0.02843	T	0.003551	0.02960	T	-0.539992	0.00335	T	-0.863145	0.00810	T	0.0237543456519899	0.01114	T	0.722728	0.37993	T	0.05084061	0.09248	0.06469397	0.13002	0.05084061	0.09248	0.06469397	0.13002	-2.72	0.09386	T	.	.	0.081	0.08176	B	.;.;.;.;.	.;.;.;.;.	0.646134	0.10147	6.889	0.73921017372164155	0.10504	0.01488	0.04944	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986279423699	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.436	0.15762	0.673000	0.24883	0.315000	0.17124	-0.343000	0.05659	0.980000	0.35271	0.000000	0.08366	0.977000	0.56843	0.0:0.3059:0.0:0.6941	2.954	0.05513	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1905	12630.32	397	chrX	55146242	.	C	T	12630.32	.	AC=8;AF=0.190;AN=42;BaseQRankSum=0.806;DP=9077;ExcessHet=3.5521;FS=0.686;InbreedingCoeff=-0.2394;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=3.42;ReadPosRankSum=0.420;SOR=0.625	GT:AD:DP:GQ:PL	0/1:441,186:627:99:4211,0,12721	13	0	8	0
chrX	55146252	55146252	-	T	exonic	FAM104B	.	frameshift insertion	FAM104B:NM_001166699:exon3:c.182_183insA:p.S61Rfs*13	.	.	390	569	526	3	34	566	0.318563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	29505.39	352	chrX	55146252	.	A	AT,G	29505.39	.	AC=16,1;AF=0.381,0.024;AN=42;BaseQRankSum=1.83;DP=8656;ExcessHet=25.1139;FS=0.000;InbreedingCoeff=-0.6799;MLEAC=16,1;MLEAF=0.381,0.024;MQ=60.00;MQRankSum=0.00;QD=4.46;ReadPosRankSum=-5.690e-01;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:549,0,48:597:99:0|1:55146252_A_G:343,1995,24944,0,22949,22804:55146252	4	0	16	0
chrX	55146253	55146253	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G182A:p.S61N	.	.	398	1075	49	0	0	49	0.0222829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.001	B	0.002	B	0.023	U	1.000	N	1.445	L	0.64	T	-1.045	T	0.080	T	0.04	0.968	8.949	-0.424	-0.249	0.384	2.107	0.041	0.00375800155316	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796781627	9.141e-07	4.651e-05	0	2.78e-06	1.191e-06	0	0	.	.	0	0	0	0	0	0	1.191e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.233	0.24913	T	0.001	0.07471	B	0.0	0.06944	B	0.022656	0.26593	U	0.266251	1	0.08975	N	1.815	0.47718	L	0.64	0.52867	T	-2.07	0.47683	N	0.153	0.18376	-1.0454	0.15709	T	0.080	0.31735	T	10	0.07770535	0.12295	T	0.003758	0.08744	T	0.041	0.10877	.	.	0.126345400529	0.12197	0.07456603407950949	0.07392	0.0746427827131	0.08380	0.323804676533	0.13997	T	0.041417	0.25850	T	-0.448251	0.01157	T	-0.881658	0.00640	T	0.0814143712671938	0.10167	T	0.563244	0.23804	T	0.14250806	0.32793	0.13756388	0.32877	0.14250806	0.32793	0.13756388	0.32876	-4.0	0.25024	T	.	.	0.101	0.17573	B	.;.;.;.;.	.;.;.;.;.	0.610047	0.09786	6.551	0.835189348405867	0.14770	0.01305	0.04528	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999987152038444	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-0.424	0.11707	0.620000	0.24097	-5.444000	0.01716	-0.286000	0.06345	0.004000	0.16614	0.000000	0.08366	0.930000	0.46718	0.3337:0.4521:0.0:0.2142	2.107	0.03469	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	332.02	352	chrX	55146253	.	C	T	332.02	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.917;DP=8054;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.56;ReadPosRankSum=-2.068e+00;SOR=0.820	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:548,48:596:99:0|1:55146252_A_G:346,0,22765:55146252	20	0	1	0
chrX	55146254	55146254	T	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A181G:p.S61G	.	.	431	15	1050	26	0	1102	0.973498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.18	B	0.062	B	0.023	N	1.000	N	1.445	L	0.62	T	-1.046	T	0.083	T	0.07	1.063	9.342	-0.917	-0.353	0.231	4.198	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5238	144900.84	345	chrX	55146254	.	T	C	144900.84	.	AC=22;AF=0.524;AN=42;BaseQRankSum=-1.022e+00;DP=8618;ExcessHet=43.6797;FS=5.118;InbreedingCoeff=-0.9301;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=18.14;ReadPosRankSum=-9.060e-01;SOR=0.494	GT:AD:DP:GQ:PL	1/1:53,535:588:5:16114,5,0	0	1	20	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L	.	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.127	B	0.271	B	0.153	U	1.000	N	1.495	L	0.27	T	-0.863	T	0.155	T	0.217	0.481	6.608	-1.26	-0.432	0.511	4.529	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5238	145728.82	278	chrX	55146275	.	T	G	145728.82	.	AC=22;AF=0.524;AN=42;BaseQRankSum=-5.160e-01;DP=6743;ExcessHet=43.6797;FS=12.602;InbreedingCoeff=-0.9267;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=23.59;ReadPosRankSum=-3.687e+00;SOR=0.530	GT:AD:DP:GQ:PL	0/1:53,443:496:99:13724,0,148	0	1	20	0
chrX	55146283	55146283	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G152A:p.S51N	.	.	397	623	499	3	0	505	0.288407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.97	D	0.76	P	0.060	U	1.000	N	1.04	L	0.58	T	-0.992	T	0.137	T	0.108	1.384	10.56	0.279	-0.048	0.205	4.875	0.056	0.0110921071969	.	.	.	.	.	.	.	.	.	.	0.0152528	397	26028	rs5018688	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.59928	D	0.093	0.43913	T	0.393	0.56973	B	0.383	0.56425	B	0.059846	0.22293	U	0.378995	1	0.08975	N	1.89	0.50145	L	0.58	0.54149	T	-1.28	0.38924	N	0.403	0.45237	-0.9915	0.32218	T	0.137	0.45260	T	10	0.1055212	0.19508	T	0.011092	0.28353	T	0.056	0.15993	0.195	0.10705	0.117506650769	0.11410	0.13308873038305813	0.13232	0.421847818605	0.42694	0.421121031046	0.27990	T	0.02108	0.16480	T	-0.332179	0.05948	T	-0.714929	0.05044	T	0.244155928492546	0.22609	T	0.533147	0.22079	T	0.27807146	0.50863	0.22633299	0.47608	0.27807146	0.50863	0.22633299	0.47607	-4.287	0.28968	T	.	.	0.120	0.24733	B	.;.;.;.;.	.;.;.;.;.	0.299513	0.06751	3.267	0.94323433060273598	0.24650	0.08620	0.14524	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986223079379	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.279	0.14929	0.332000	0.19494	-0.521000	0.08690	0.530000	0.24713	0.996000	0.39380	0.000000	0.08366	0.128000	0.19490	0.5333:0.4667:0.0:0.0	4.875	0.13009	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.375	15609.31	256	chrX	55146283	.	C	T	15609.31	.	AC=15;AF=0.375;AN=40;BaseQRankSum=-6.090e-01;DP=5771;ExcessHet=17.4423;FS=2.201;InbreedingCoeff=-0.6051;MLEAC=16;MLEAF=0.400;MQ=60.00;MQRankSum=0.00;QD=3.81;ReadPosRankSum=-1.177e+00;SOR=0.788	GT:AD:DP:GQ:PL	0/1:376,80:456:99:1299,0,11561	5	0	15	1
chrX	67545334	67545334	-	GCA	exonic	AR	.	nonframeshift insertion	AR:NM_000044:exon1:c.188_189insGCA:p.Q80_E81insQ	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	4/4:0,0,0,0,11,0,0:11:35:495,495,495,495,495,495,495,495,495,495,35,35,35,35,0,495,495,495,495,35,495,495,495,495,495,35,495,495	5	3	1	1
chrX	67545326	67545334	GCAGCAGCA	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.180_188del:p.Q78_Q80del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	4/4:0,0,0,0,11,0,0:11:35:495,495,495,495,495,495,495,495,495,495,35,35,35,35,0,495,495,495,495,35,495,495,495,495,495,35,495,495	5	3	1	1
chrX	67545332	67545334	GCA	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.186_188del:p.Q80del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	4/4:0,0,0,0,11,0,0:11:35:495,495,495,495,495,495,495,495,495,495,35,35,35,35,0,495,495,495,495,35,495,495,495,495,495,35,495,495	5	3	1	1
chrX	67545329	67545334	GCAGCA	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.183_188del:p.Q79_Q80del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	4/4:0,0,0,0,11,0,0:11:35:495,495,495,495,495,495,495,495,495,495,35,35,35,35,0,495,495,495,495,35,495,495,495,495,495,35,495,495	5	3	1	1
chrX	67545334	67545334	-	GCAGCAGCAGCA	exonic	AR	.	nonframeshift insertion	AR:NM_000044:exon1:c.188_189insGCAGCAGCAGCA:p.Q80_E81insQQQQ	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	4/4:0,0,0,0,11,0,0:11:35:495,495,495,495,495,495,495,495,495,495,35,35,35,35,0,495,495,495,495,35,495,495,495,495,495,35,495,495	5	3	1	1
chrX	109465204	109465204	A	G	exonic	GUCY2F	.	nonsynonymous SNV	GUCY2F:NM_001522:exon3:c.T970C:p.Y324H,	.	.	438	1073	6	5	0	16	0.00740056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.368	B	0.201	B	0.000	D	0.998	D	1.73	L	-1.76	D	-0.191	T	0.441	T	0.303	1.286	10.21	4.18	1.852	1.658	10.547	0.365	0.0853084875989	0.0009	0.0018543	0.0017	0.0002	0.0003	0	0	0.0013	0.0016	0.0083	0.0017658	273	154602	rs73248160	0.0018	0.0018	0.0017	0.0022	0.0101	0.0018	0.0017	0.0094	0.0091	7.586e-05	0.0004	5.163e-05	0	4.934e-05	0.0041	0.0016	0.0015	0.0101	0.0010	0.0010	0.0010	0.0011	0.0112	0.0009	0.0008	0.0080	0.0070	0.0002	0	0.0004	0	0	0	0	0.0014	0.0007	0.0112	0.256	0.16793	T	0.245	0.24054	T	0.368	0.34048	B	0.201	0.36881	B	0.000003	0.62929	D	0.062165	0.997681	0.44098	D	1.545	0.39105	L	-1.76	0.83578	D	-1.92	0.44657	N	0.191	0.20925	-0.1905	0.77915	T	0.441	0.77903	T	10	0.0073500574	0.00167	T	0.085308	0.74506	D	0.365	0.68495	.	.	0.684160453752	0.68146	0.756099335759661	0.75557	0.153896172561	0.17371	0.458259791136	0.33071	T	0.238752	0.60672	T	-0.384429	0.02920	T	-0.318017	0.42791	T	0.0235812666470097	0.01093	T	0.779122	0.41282	T	0.4113793	0.61512	0.31480473	0.57470	0.4113793	0.61513	0.31480473	0.57469	-6.232	0.48181	T	.	.	0.095	0.14797	B	.	.	2.288760	0.29275	18.07	0.98178932688111042	0.38925	0.89624	0.50208	D	AEFBI	.	.	.	.	.	.	.	.	.	0.302508611197394	0.19203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.18	4.18	0.48473	1.940000	0.39851	4.910000	0.45943	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	10.547	0.44253	151	0.94052	Receptor, ligand binding region	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	10661.66	34	chrX	109465204	.	A	G	10661.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.89;DP=1206;ExcessHet=0.0000;FS=1.194;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=19.97;ReadPosRankSum=0.519;SOR=0.568	GT:AD:DP:GQ:PL	1/1:0,196:196:99:6315,588,0	19	1	1	0
chrX	118573825	118573825	A	G	exonic	DOCK11	.	nonsynonymous SNV	DOCK11:NM_144658:exon12:c.A1196G:p.N399S,	.	.	0	225	0	1	0	2	0.00442478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.95	T	0.0	B	0.0	B	0.000	D	0.854	N	-1.59	N	1.45	T	-0.995	T	0.015	T	0.069	-0.822	0.618	3.62	0.853	0.512	4.447	0.087	0.0178618172249	9.5e-05	.	0.0003	0	0	0.0002	0	0.0001	0.0016	0.0021	0.0002652	41	154602	rs371030633	0.0001	0.0001	9.804e-05	0.0002	0.0018	0.0001	0.0001	0.0015	0.0014	0	2.859e-05	5.169e-05	6.64e-05	0	0.0002	4.641e-05	0.0002	0.0018	7.161e-05	6.961e-05	6.426e-05	8.846e-05	0.0008	3.473e-05	2.519e-05	0.0001	5.546e-05	3.251e-05	0	0	0	0	0	0	9.403e-05	0	0.0008	0.962	0.02093	T	0.917	0.02899	T	0.0	0.02946	B	0.0	0.01387	B	0.000086	0.51296	D	0.224260	0.854118	0.28453	N	-1.75	0.00322	N	1.45	0.32482	T	1.24	0.01024	N	0.05	0.02559	-0.9948	0.31352	T	0.015	0.06090	T	10	0.0053465962	0.00117	T	0.017862	0.39721	T	0.087	0.25287	.	.	0.198222871337	0.19423	0.10527834662095858	0.10457	0.279136052343	0.30394	0.465677499771	0.34088	T	0.006742	0.06169	T	-0.806633	0.00007	T	-0.938712	0.00299	T	0.0143139276925908	0.00285	T	0.834017	0.50309	T	0.031876832	0.03108	0.052414645	0.08632	0.031876832	0.03107	0.052414645	0.08632	-0.288	0.00468	T	.	.	0.052	0.00203	B	.;.;.	.;.;.	0.987095	0.13646	10.18	0.75036885265552977	0.10921	0.42229	0.26832	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.682668073359786	0.22498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.02	3.62	0.40616	0.178000	0.16634	0.814000	0.21781	0.756000	0.94297	0.045000	0.21207	0.783000	0.26796	0.992000	0.67800	0.504:0.3534:0.1425:0.0	4.447	0.11024	533	0.73433	.;.;.	.	.	.	.	.	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	0.04762	1728.08	34	chrX	118573825	.	A	G	1728.08	.	AC=2;AF=0.048;AN=42;DP=727;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.61;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1756,159,0	20	1	0	0
chrX	129761186	129761186	G	A	exonic	XPNPEP2	.	nonsynonymous SNV	XPNPEP2:NM_003399:exon17:c.G1513A:p.A505T,	.	.	422	1099	0	1	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.98	T	0.055	B	0.077	B	0.014	N	1.000	N	1.355	L	-1.15	T	-0.862	T	0.252	T	0.206	0.504	6.732	3.83	0.530	0.910	5.815	0.175	0.0184855124795	.	.	2.358e-05	0.0001	0	0	0	2.141e-05	0	0	2.59e-05	4	154602	rs745457993	1.184e-05	1.275e-05	1.089e-05	1.377e-05	0.0005	6.61e-06	5.09e-06	8.525e-05	3.55e-05	0.0002	2.841e-05	0	0	0	0.0005	5.939e-06	2.17e-05	0	1.782e-05	2.611e-05	2.569e-05	0	3.238e-05	2.96e-06	1.11e-06	.	.	3.238e-05	0	0	0	0	0	0	1.88e-05	0	0	1.0	0.00964	T	0.655	0.06621	T	0.055	0.22733	B	0.077	0.28532	B	0.013528	0.28812	N	0.429791	0.841477	0.28624	N	1.17	0.29769	L	-1.15	0.77964	T	-0.26	0.11185	N	0.118	0.10769	-0.8616	0.51147	T	0.252	0.62235	T	10	0.09914985	0.17973	T	0.018486	0.40571	T	0.175	0.44197	0.526	0.63115	0.494838880905	0.49117	0.6338814186688351	0.63322	0.0709521181433	0.07953	0.367237061262	0.20434	T	0.07966	0.36180	T	-0.330495	0.06074	T	-0.520174	0.20276	T	0.0294331589681697	0.01903	T	0.735426	0.35200	T	0.04933068	0.08743	0.08798943	0.20486	0.04933068	0.08743	0.08798943	0.20485	-7.401	0.56912	T	.	.	0.086	0.10739	B	.	.	1.400046	0.18141	13.57	0.5825287022332104	0.05951	0.66133	0.32973	D	AEFI	.	.	.	.	.	.	.	.	.	0.99848792641196	0.37052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.6	3.83	0.43287	0.819000	0.26965	3.365000	0.37889	0.676000	0.76740	0.980000	0.35271	0.919000	0.28284	0.964000	0.52637	0.1682:0.0:0.6774:0.1544	5.815	0.17748	131	0.94738	Peptidase M24|Aminopeptidase P	.	.	.	.	.	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	0.04762	1884.08	34	chrX	129761186	.	G	A	1884.08	.	AC=2;AF=0.048;AN=42;DP=751;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.44;SOR=0.756	GT:AD:DP:GQ:PL	1/1:0,64:64:99:1912,192,0	20	1	0	0