Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	Maybe_Pathogenic	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	REVEL	MCAP	esp6500siv2_all	1000g2015aug_all	ExAC_ALL	ExAC_AFR	ExAC_AMR	ExAC_EAS	ExAC_FIN	ExAC_NFE	ExAC_OTH	ExAC_SAS	Kaviar_AF	Kaviar_AC	Kaviar_AN	avsnp151	gnomad41_exome_AF	gnomad41_exome_AF_raw	gnomad41_exome_AF_XX	gnomad41_exome_AF_XY	gnomad41_exome_AF_grpmax	gnomad41_exome_faf95	gnomad41_exome_faf99	gnomad41_exome_fafmax_faf95_max	gnomad41_exome_fafmax_faf99_max	gnomad41_exome_AF_afr	gnomad41_exome_AF_amr	gnomad41_exome_AF_asj	gnomad41_exome_AF_eas	gnomad41_exome_AF_fin	gnomad41_exome_AF_mid	gnomad41_exome_AF_nfe	gnomad41_exome_AF_remaining	gnomad41_exome_AF_sas	gnomad41_genome_AF	gnomad41_genome_AF_raw	gnomad41_genome_AF_XX	gnomad41_genome_AF_XY	gnomad41_genome_AF_grpmax	gnomad41_genome_faf95	gnomad41_genome_faf99	gnomad41_genome_fafmax_faf95_max	gnomad41_genome_fafmax_faf99_max	gnomad41_genome_AF_afr	gnomad41_genome_AF_ami	gnomad41_genome_AF_amr	gnomad41_genome_AF_asj	gnomad41_genome_AF_eas	gnomad41_genome_AF_fin	gnomad41_genome_AF_mid	gnomad41_genome_AF_nfe	gnomad41_genome_AF_remaining	gnomad41_genome_AF_sas	SIFT_score	SIFT_converted_rankscore	SIFT_pred	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred	LRT_score	LRT_converted_rankscore	LRT_pred	LRT_Omega	MutationTaster_score	MutationTaster_converted_rankscore	MutationTaster_pred	MutationAssessor_score	MutationAssessor_rankscore	MutationAssessor_pred	FATHMM_score	FATHMM_converted_rankscore	FATHMM_pred	PROVEAN_score	PROVEAN_converted_rankscore	PROVEAN_pred	VEST4_score	VEST4_rankscore	MetaSVM_score	MetaSVM_rankscore	MetaSVM_pred	MetaLR_score	MetaLR_rankscore	MetaLR_pred	Reliability_index	MetaRNN_score	MetaRNN_rankscore	MetaRNN_pred	M-CAP_score	M-CAP_rankscore	M-CAP_pred	REVEL_score	REVEL_rankscore	MutPred_score	MutPred_rankscore	MVP_score	MVP_rankscore	gMVP_score	gMVP_rankscore	MPC_score	MPC_rankscore	PrimateAI_score	PrimateAI_rankscore	PrimateAI_pred	DEOGEN2_score	DEOGEN2_rankscore	DEOGEN2_pred	BayesDel_addAF_score	BayesDel_addAF_rankscore	BayesDel_addAF_pred	BayesDel_noAF_score	BayesDel_noAF_rankscore	BayesDel_noAF_pred	ClinPred_score	ClinPred_rankscore	ClinPred_pred	LIST-S2_score	LIST-S2_rankscore	LIST-S2_pred	VARITY_R_score	VARITY_R_rankscore	VARITY_ER_score	VARITY_ER_rankscore	VARITY_R_LOO_score	VARITY_R_LOO_rankscore	VARITY_ER_LOO_score	VARITY_ER_LOO_rankscore	ESM1b_score	ESM1b_rankscore	ESM1b_pred	EVE_score	EVE_rankscore	AlphaMissense_score	AlphaMissense_rankscore	AlphaMissense_pred	Aloft_pred	Aloft_Confidence	CADD_raw	CADD_raw_rankscore	CADD_phred	DANN_score	DANN_rankscore	fathmm-MKL_coding_score	fathmm-MKL_coding_rankscore	fathmm-MKL_coding_pred	fathmm-MKL_coding_group	fathmm-XF_coding_score	fathmm-XF_coding_rankscore	fathmm-XF_coding_pred	Eigen-raw_coding	Eigen-raw_coding_rankscore	Eigen-phred_coding	Eigen-PC-raw_coding	Eigen-PC-raw_coding_rankscore	Eigen-PC-phred_coding	GenoCanyon_score	GenoCanyon_rankscore	integrated_fitCons_score	integrated_fitCons_rankscore	integrated_confidence_value	GM12878_fitCons_score	GM12878_fitCons_rankscore	GM12878_confidence_value	H1-hESC_fitCons_score	H1-hESC_fitCons_rankscore	H1-hESC_confidence_value	HUVEC_fitCons_score	HUVEC_fitCons_rankscore	HUVEC_confidence_value	LINSIGHT	LINSIGHT_rankscore	GERP++_NR	GERP++_RS	GERP++_RS_rankscore	phyloP100way_vertebrate	phyloP100way_vertebrate_rankscore	phyloP470way_mammalian	phyloP470way_mammalian_rankscore	phyloP17way_primate	phyloP17way_primate_rankscore	phastCons100way_vertebrate	phastCons100way_vertebrate_rankscore	phastCons470way_mammalian	phastCons470way_mammalian_rankscore	phastCons17way_primate	phastCons17way_primate_rankscore	SiPhy_29way_pi	SiPhy_29way_logOdds	SiPhy_29way_logOdds_rankscore	bStatistic	bStatistic_converted_rankscore	Interpro_domain	GTEx_V8_eQTL_gene	GTEx_V8_eQTL_tissue	GTEx_V8_sQTL_gene	GTEx_V8_sQTL_tissue	eQTLGen_snp_id	InterVar_automated	PVS1	PS1	PS2	PS3	PS4	PM1	PM2	PM3	PM4	PM5	PM6	PP1	PP2	PP3	PP4	PP5	BA1	BS1	BS2	BS3	BS4	BP1	BP2	BP3	BP4	BP5	BP6	BP7	GME_AF	GME_NWA	GME_NEA	GME_AP	GME_Israel	GME_SD	GME_TP	GME_CA	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES982	WT	HH	HZ	NC	Gene_compare
chr1	12881783	12881783	A	G	intronic	PRAMEF4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	64.44	49	chr1	12881783	.	A	G	64.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=423;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=43.34;MQRankSum=-1.645;QD=12.89;ReadPosRankSum=-0.524;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:75:0|1:12881783_A_G:75,0,120:12881783	6	0	1	0	.
chr1	12881784	12881784	G	C	intronic	PRAMEF4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	64.44	49	chr1	12881784	.	G	C	64.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=423;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=43.34;MQRankSum=-1.645;QD=12.89;ReadPosRankSum=-0.524;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:75:0|1:12881783_A_G:75,0,120:12881783	6	0	1	0	C
chr1	12881787	12881787	G	A	intronic	PRAMEF4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs909629219	9.529e-05	0.0001	9.621e-05	9.436e-05	0.0015	8.211e-05	7.722e-05	0.0007	0.0005	9.091e-05	0.0005	0	0	0	0.0015	7.944e-05	0.0003	2.333e-05	6.106e-05	5.945e-05	7.944e-05	4.174e-05	0.0001	3.168e-05	2.375e-05	2.875e-05	1.879e-05	2.552e-05	0	0.0001	0	0	0	0	7.449e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	64.44	49	chr1	12881787	.	G	A	64.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=423;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=43.34;MQRankSum=-1.645;QD=12.89;ReadPosRankSum=-0.524;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:75:0|1:12881783_A_G:75,0,120:12881783	6	0	1	0	C
chr1	12881794	12881794	A	G	intronic	PRAMEF4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.068e-06	2.394e-05	1.372e-06	2.77e-06	2.277e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	2.277e-05	0	0	0	0	1.804e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	64.44	49	chr1	12881794	.	A	G	64.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=423;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=43.34;MQRankSum=-1.645;QD=12.89;ReadPosRankSum=-0.524;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:75:0|1:12881783_A_G:75,0,120:12881783	6	0	1	0	C
chr1	12881808	12881808	-	AAAGAA	intronic	PRAMEF4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	64.4	101	chr1	12881808	.	C	CAAAGAA	64.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=534;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=43.34;MQRankSum=-1.645;QD=12.88;ReadPosRankSum=-0.524;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,2:5:75:75,0,120	6	0	1	0	C
chr1	26328837	26328837	C	T	exonic	CRYBG2	.	nonsynonymous SNV	CRYBG2:NM_001039775:exon16:c.G4351A:p.E1451K	.	424	1094	3	1	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.528	0.124672393099	.	.	4.119e-05	0	8.64e-05	0.0005	0	0	0	0	3.23e-05	5	154602	rs758928498	4.241e-05	4.241e-05	4.084e-05	4.4e-05	0.0003	3.376e-05	3.065e-05	0.0001	0.0001	0	2.237e-05	0	0.0003	0	0	4.586e-05	0	0	1.973e-05	1.97e-05	1.285e-05	2.693e-05	0.0002	5.25e-06	2.46e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.94e-05	0	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.000004	0.62929	D	0.104471	0.999869	0.81001	D	.	.	.	.	.	.	.	.	.	0.709	0.71232	-0.0681	0.80821	T	0.542	0.83137	D	10	0.23047704	0.39999	T	0.124672	0.80607	D	0.528	0.80067	.	.	0.739935291395	0.73760	0.6497384068064385	0.64909	0.369375503011	0.38465	0.488458484411	0.37225	T	.	.	.	-0.0916083	0.37811	T	-0.0393641	0.67744	D	0.327776074409485	0.26136	T	0.909809	0.68205	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.827	0.80085	P	.;.;.	.;.;.	3.050602	0.40936	21.3	0.98256215517398382	0.39621	0.94129	0.60200	D	AEFBI	0.650073	0.62431	D	-0.418173159114811	0.24833	1.343638	-0.473232883521117	0.22894	1.245795	0.99407586973144	0.33476	0.661447	0.50134	0	0.547309	0.14657	0	0.644132	0.48003	0	0.564101	0.26826	0	.	.	5.03	3.15	0.35301	4.208000	0.58284	4.927000	0.46095	-0.896000	0.02358	1.000000	0.71638	1.000000	0.68203	0.577000	0.30821	0.0:0.7722:0.2278:0.0	17.736	0.88300	400	0.82730	Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin;.;Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	73.44	43	chr1	26328837	.	C	T	73.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.282;DP=243;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=-0.524;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,4:5:21:84,0,21	6	0	1	0	.
chr1	33158243	33158243	C	T	intronic	TRIM62	.	.	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	50.44	33	chr1	33158243	.	C	T	50.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.15;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.3;ReadPosRankSum=0.703;SOR=0.307	GT:AD:DP:GQ:PL	0/1:5,3:8:61:61,0,149	6	0	1	0	.
chr1	40546752	40546752	T	-	exonic	ZNF684	.	stopgain	ZNF684:NM_152373:exon5:c.429delT:p.L144*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	42.4	34	chr1	40546751	.	AT	A	42.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=198;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.07;ReadPosRankSum=-1.834;SOR=0.693	GT:AD:DP:GQ:PL	0/1:4,2:6:53:53,0,124	6	0	1	0	.
chr1	84520657	84520657	G	A	exonic	SPATA1	.	nonsynonymous SNV	SPATA1:NM_001310156:exon3:c.G109A:p.V37I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1370809242	4.921e-06	5.472e-06	2.787e-06	7.095e-06	0.0002	2.05e-06	1.32e-06	1.34e-06	9.7e-07	3.135e-05	0	0	0	0	0.0002	4.571e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29456955	0.47028	T	.	.	.	.	.	.	.	.	.	0.04230899706024219	0.04175	.	.	0.488867014647	0.37281	T	.	.	.	.	.	.	.	.	.	.	.	.	0.670533	0.27914	T	0.09606745	0.22621	0.33015117	0.58887	0.09606745	0.22621	0.33015117	0.58887	-4.984	0.36666	T	.	.	0.126	0.26700	B	.	.	3.029277	0.40572	21.2	0.78751429399539785	0.12437	0.85366	0.44492	D	AEFGI	.	.	.	.	.	.	.	.	.	0.00285520026888768	0.09753	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.062806	0.01542	0	0.350147	0.36219	5.35	4.45	0.53365	3.803000	0.55264	4.452000	0.43426	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0737:0.1403:0.7859:0.0	10.815	0.45776	683	0.59664	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	67.44	33	chr1	84520657	.	G	A	67.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.792;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=2.19;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,4:7:72:78,0,72	6	0	1	0	.
chr1	88828548	88828548	A	G	exonic	PKN2	.	synonymous SNV	PKN2:NM_001320707:exon18:c.A2343G:p.L781L,PKN2:NM_001320708:exon18:c.A2016G:p.L672L,PKN2:NM_001320709:exon19:c.A2439G:p.L813L,PKN2:NM_006256:exon19:c.A2487G:p.L829L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.07143	73.44	33	chr1	88828548	.	A	G	73.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.282;DP=191;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=0;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,4:5:25:84,0,25	6	0	1	0	.
chr1	110451232	110451232	C	T	exonic	PROK1	.	stopgain	PROK1:NM_032414:exon1:c.C16T:p.R6X	.	412	1108	2	0	0	2	0.000901713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000199681	8.238e-05	0.0004	0.0003	0	0	4.495e-05	0	0	7.76e-05	12	154602	rs187548600	5.609e-05	5.678e-05	6.126e-05	5.088e-05	0.0003	4.61e-05	4.236e-05	0.0002	0.0002	0.0002	0.0003	0	0	0	0.0002	3.957e-05	0.0002	0	0.0002	0.0002	0.0001	0.0003	0.0010	0.0001	0.0001	0.0007	0.0005	0.0002	0	0.0010	0	0	0	0	4.411e-05	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	0.600221	0.05642	N	1.205260	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.273	0.30914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166258	0.70779	D	0.280476	0.87149	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	6.178003	0.94733	34	0.99531691924212806	0.69901	0.07013	0.13040	N	AEFDGBI	0.051670	0.09152	N	0.171931065197097	0.49854	3.181335	-0.140985303755173	0.33756	1.934366	0.991178699986803	0.32398	0.446893	0.09132	0	0.563428	0.19063	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	5.67	3.74	0.42108	0.581000	0.23520	0.117000	0.14863	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.174000	0.21107	0.3189:0.6811:0.0:0.0	11.329	0.48703	860	0.33753	Prokineticin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	175.44	34	chr1	110451232	.	C	T	175.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.15;DP=229;ExcessHet=0;FS=2.276;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-0.564;SOR=0.959	GT:AD:DP:GQ:PL	0/1:6,8:14:99:186,0,128	6	0	1	0	.
chr1	112712015	112712015	G	A	exonic	PPM1J	.	nonsynonymous SNV	PPM1J:NM_005167:exon5:c.C883T:p.R295W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.0200678011105	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1428637882	6.856e-06	7.525e-06	6.815e-06	6.897e-06	0.0001	3.47e-06	2.53e-06	3.354e-05	1.985e-05	0	0	0	0.0001	0	0	3.604e-06	0	2.329e-05	1.315e-05	1.314e-05	2.57e-05	0	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.471e-05	0	0	0.054	0.38633	T	0.032	0.59732	D	0.999	0.77913	D	0.877	0.64886	P	0.002564	0.36316	N	0.302755	0.982171	0.39861	D	2.27	0.64531	M	2.24	0.17923	T	-3.36	0.66549	D	0.333	0.38027	-1.0828	0.06814	T	0.060	0.25127	T	10	0.42089292	0.56856	T	0.020068	0.42586	T	0.139	0.37390	0.385	0.40460	0.507510703362	0.50389	0.7335583557087396	0.73300	0.373526394389	0.38820	0.460586249828	0.33390	T	0.25357	0.62410	T	-0.195747	0.21420	T	-0.418324	0.31268	T	0.959035098552704	0.65428	D	0.765923	0.89615	T	0.27419984	0.50486	0.16901821	0.38905	0.27419984	0.50486	0.16901821	0.38904	-8.465	0.64197	D	.	.	0.114	0.26294	B	.;.	.;.	4.505017	0.70489	25.5	0.99897964174082776	0.97048	0.74437	0.36415	D	AEFBI	0.811859	0.73473	D	0.332258639264669	0.57812	3.950041	0.259260591791884	0.53176	3.488038	0.884062035725623	0.25687	0.643511	0.44296	0	0.588066	0.40923	0	0.688494	0.62686	0	0.655142	0.61905	0	.	.	5.49	2.42	0.28720	1.286000	0.32877	3.923000	0.40484	0.676000	0.76740	0.882000	0.31029	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.505:0.495	14.628	0.68238	884	0.28482	PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	203.19	35	chr1	112712015	.	G	A	203.19	.	AC=2;AF=0.143;AN=14;DP=220;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=29.03;SOR=0.941	GT:AD:DP:GQ:PL	1/1:0,7:7:21:224,21,0	6	1	0	0	.
chr1	113391303	113391303	C	T	exonic	MAGI3	.	synonymous SNV	MAGI3:NM_001142782:exon1:c.C270T:p.V90V,MAGI3:NM_152900:exon1:c.C270T:p.V90V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.1429	177.21	30	chr1	113391303	.	C	T	177.21	.	AC=2;AF=0.143;AN=14;DP=207;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=22.15;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,8:8:24:198,24,0	6	1	0	0	.
chr1	146968467	146968467	C	T	exonic	NBPF12	.	synonymous SNV	NBPF12:NM_001278141:exon13:c.C1008T:p.D336D	.	396	1123	3	0	0	3	0.00133393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.058e-06	3.422e-06	0	4.135e-06	0.0004	5.5e-07	1.5e-07	6.248e-05	2.579e-05	0	2.237e-05	0	0	0	0.0004	0	0	0	6.579e-06	1.97e-05	1.287e-05	0	6.551e-05	0	0	.	.	0	0	6.551e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.07143	39.44	33	chr1	146968467	.	C	T	39.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.458;DP=298;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=37.88;MQRankSum=-1.175;QD=3.03;ReadPosRankSum=-0.762;SOR=1.179	GT:AD:DP:GQ:PL	0/1:10,3:13:50:50,0,218	6	0	1	0	.
chr1	151986114	151986114	G	A	exonic	S100A10	.	synonymous SNV	S100A10:NM_002966:exon2:c.C117T:p.F39F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1162456162	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.07143	47.44	35	chr1	151986114	.	G	A	47.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.191;DP=224;ExcessHet=0;FS=2.632;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.31;ReadPosRankSum=-1.2;SOR=0.991	GT:AD:DP:GQ:PL	0/1:8,3:11:58:58,0,201	6	0	1	0	.
chr1	152155538	152155573	AACTCTGGCCTTGTCTGTCTGTCTGACCATAGTGGG	-	exonic	RPTN	.	nonframeshift deletion	RPTN:NM_001122965:exon3:c.1526_1561del:p.S509_S520del	.	1	224	1	0	0	1	0.00222717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.315e-06	0	0	0	0	1.508e-05	0	0	3.84e-05	1	26028	rs749387317	1.41e-06	1.368e-06	1.404e-06	1.416e-06	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.498e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	518.4	159	chr1	152155537	.	AAACTCTGGCCTTGTCTGTCTGTCTGACCATAGTGGG	A	518.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.405;DP=1316;ExcessHet=0;FS=2.736;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-0.041;SOR=0.764	GT:AD:DP:GQ:PL	0/1:28,16:44:99:529,0,1039	6	0	1	0	.
chr1	152311534	152311534	T	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A3352C:p.I1118L	Ichthyosis vulgaris, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00231703527819	.	0.000798722	0.0009	0.0006	8.637e-05	0.0015	0.0047	0.0007	0.0011	0.0005	9.06e-05	14	154602	rs151140943	0.0006	0.0006	0.0006	0.0006	0.0010	0.0006	0.0005	0.0007	0.0006	0.0001	0.0003	3.826e-05	0.0010	0.0048	0.0002	0.0004	0.0008	0.0003	0.0010	0.0010	0.0007	0.0013	0.0031	0.0009	0.0008	0.0020	0.0016	0.0002	0	0.0002	0.0003	0.0031	0.0066	0	0.0007	0.0005	0.0006	0.71	0.04044	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.35	0.00085	N	4.74	0.01604	T	0.14	0.05405	N	0.067	0.03956	-0.9595	0.39274	T	0.000	0.00075	T	9	0.00555408	0.00123	T	0.002317	0.04479	T	0.006	0.00375	.	.	0.0666544352282	0.05500	0.0074878760501136754	0.00714	.	.	0.26697999239	0.05751	T	0.024666	0.18594	T	-0.726574	0.00025	T	-0.822617	0.01400	T	0.00718962237721429	0.00082	T	0.220878	0.02837	T	0.03923099	0.05378	0.033710513	0.02311	0.03923099	0.05378	0.033710513	0.02310	1.39	0.00091	T	.	.	0.079	0.07460	B	.	.	-0.767701	0.01172	0.056	0.5643010792063935	0.05550	0.00076	0.00525	N	AEFGBI	0.019781	0.00719	N	-2.92711555578255	0.00001	6.96606e-05	-2.91823907035089	0.00002	0.0001058525	0.999995189276895	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.46	-4.91	0.02857	-4.317000	0.00290	.	.	-3.686000	0.00066	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1011:0.4441:0.135:0.3198	3.371	0.06799	590	0.68897	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001589	0.000000	0.000000	0.000000	0.000000	0.000000	0.012270	0.000000	0.07143	359.44	231	chr1	152311534	.	T	G	359.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.205;DP=2065;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=52.55;MQRankSum=-2.856;QD=12.39;ReadPosRankSum=1.08;SOR=0.569	GT:AD:DP:GQ:PL	0/1:13,16:29:99:370,0,282	6	0	1	0	.
chr1	152664386	152664387	GT	-	exonic	LCE2D	.	frameshift deletion	LCE2D:NM_178430:exon2:c.281_282del:p.S94Rfs*27	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	49.4	34	chr1	152664385	.	AGT	A	49.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.967;DP=235;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=58.83;MQRankSum=0.253;QD=4.94;ReadPosRankSum=-1.593;SOR=0.169	GT:AD:DP:GQ:PL	0/1:8,2:10:60:60,0,330	6	0	1	0	.
chr1	152719934	152719934	C	T	exonic	C1orf68	.	nonsynonymous SNV	C1orf68:NM_001024679:exon1:c.C413T:p.S138F	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00263165170528	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1214888888	3.572e-06	3.42e-06	2.819e-06	4.345e-06	1.262e-05	1.05e-06	7.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.853e-06	3.441e-05	1.262e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.058	0.46182	T	.	.	.	.	.	.	0.479973	0.12177	N	0.706830	1	0.08975	N	.	.	.	1.86	0.24285	T	-1.96	0.45404	N	0.256	0.28965	-1.0561	0.12750	T	0.026	0.11087	T	10	0.14039296	0.26685	T	0.002632	0.05349	T	0.025	0.05312	0.173	0.07894	0.184867976434	0.18130	0.20818544504664566	0.20734	.	.	.	.	.	.	.	.	-0.289205	0.09716	T	-0.525421	0.19746	T	0.354126900434494	0.27180	T	0.506149	0.16021	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.32780	B	.	.	1.606671	0.20534	14.79	0.98721424156705473	0.45215	0.03809	0.09143	N	AEFBI	0.034486	0.04281	N	-0.458957804591828	0.23438	1.258614	-0.571456930458873	0.20239	1.089484	0.00583874782836862	0.11056	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.22	3.29	0.36801	0.596000	0.23744	.	.	0.599000	0.40250	0.003000	0.16062	0.027000	0.21108	0.030000	0.13115	0.0:0.8939:0.0:0.1061	8.553	0.32624	702	0.57624	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	140.44	34	chr1	152719934	.	C	T	140.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.016;DP=739;ExcessHet=0;FS=2.808;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=-2.823;SOR=1.108	GT:AD:DP:GQ:PL	0/1:4,6:10:99:151,0,105	6	0	1	0	.
chr1	152797875	152797875	T	A	exonic	LCE1D	.	synonymous SNV	LCE1D:NM_178352:exon2:c.T81A:p.P27P	.	510	1007	4	0	1	5	0.00198216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.09e-06	0.0001	0	0	0	0	0	0	3.84e-05	1	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.1	63.2	33	chr1	152797875	.	T	A	63.2	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0;DP=148;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=-1.834;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,2:6:72:0|1:152797875_T_A:72,0,162:152797875	4	0	1	2	.
chr1	152797878	152797878	A	G	exonic	LCE1D	.	synonymous SNV	LCE1D:NM_178352:exon2:c.A84G:p.K28K	.	507	1011	3	0	1	4	0.00148148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.818e-05	0.0001	0	0	0	1.73e-05	0	0	0.0002305	6	26028	rs771064270	5.359e-06	1.54e-05	4.576e-06	6.148e-06	7.173e-06	2.23e-06	1.43e-06	2.98e-06	1.92e-06	0	0	0	0	0	0	7.173e-06	0	0	0	7.198e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.1	63.2	33	chr1	152797878	.	A	G	63.2	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0;DP=145;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=-1.834;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,2:6:72:0|1:152797875_T_A:72,0,162:152797875	4	0	1	2	C
chr1	154348348	154348348	T	C	intronic	ATP8B2	.	.	.	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs572454657	0.0002	0.0002	0.0001	0.0002	0.0013	0.0001	0.0001	0.0007	0.0006	0	4.956e-05	0.0037	2.626e-05	0	0.0013	3.001e-05	0.0005	0.0008	0.0001	0.0001	0.0001	0.0001	0.0010	9.149e-05	7.704e-05	0.0004	0.0003	0	0	6.542e-05	0.0032	0	0	0	4.411e-05	0.0005	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	150.44	37	chr1	154348348	.	T	C	150.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.282;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.72;ReadPosRankSum=0.812;SOR=0.941	GT:AD:DP:GQ:PL	0/1:2,7:9:22:161,0,22	6	0	1	0	.
chr1	167974997	167974997	T	-	exonic	DCAF6	.	frameshift deletion	DCAF6:NM_001198957:exon3:c.327delT:p.Y110Mfs*8,DCAF6:NM_001017977:exon4:c.420delT:p.Y141Mfs*8,DCAF6:NM_001198956:exon4:c.420delT:p.Y141Mfs*8,DCAF6:NM_001349773:exon4:c.420delT:p.Y141Mfs*8,DCAF6:NM_018442:exon4:c.420delT:p.Y141Mfs*8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	46.4	33	chr1	167974996	.	AT	A	46.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.834;DP=195;ExcessHet=0;FS=4.771;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.73;ReadPosRankSum=-1.111;SOR=0.039	GT:AD:DP:GQ:PL	0/1:4,2:6:57:57,0,132	6	0	1	0	.
chr1	175097446	175097446	G	A	exonic	TNN	.	nonsynonymous SNV	TNN:NM_022093:exon8:c.G1618A:p.D540N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00722726408197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.437	0.09346	T	0.478	0.21411	T	0.007	0.14184	B	0.05	0.25278	B	0.044195	0.23663	N	0.426155	1	0.08975	N	1.7	0.43825	L	0.41	0.57100	T	-1.17	0.29933	N	0.116	0.28028	-1.0122	0.26228	T	0.109	0.39415	T	10	0.057217658	0.06537	T	0.007227	0.19171	T	0.074	0.21613	0.36	0.36385	0.589254406313	0.58601	0.36356376524649753	0.36270	0.101460948195	0.11481	0.257430016994	0.04590	T	8.89E-4	0.00449	T	-0.293613	0.09277	T	-0.659531	0.08299	T	0.136263146996498	0.15949	T	0.678632	0.36245	T	0.03948883	0.05463	0.04373248	0.05508	0.03948883	0.05462	0.04373248	0.05508	-6.52	0.50441	T	.	.	0.087	0.10979	B	.;.	.;.	1.347555	0.17547	13.23	0.97139515987951708	0.32534	0.06659	0.12677	N	AEFDBI	0.060206	0.11427	N	-0.718599909100715	0.15500	0.7816406	-0.673177559965175	0.17633	0.9384645	0.00559338190027076	0.10987	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.63	2.77	0.31614	0.294000	0.18803	-0.351000	0.09744	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.830000	0.39126	0.3633:0.0:0.6367:0.0	8.674	0.33332	659	0.61982	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	54.44	33	chr1	175097446	.	G	A	54.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.369;DP=213;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.8;ReadPosRankSum=-2.1;SOR=0.307	GT:AD:DP:GQ:PL	0/1:5,3:8:65:65,0,189	6	0	1	0	.
chr1	180863775	180863775	C	T	exonic	XPR1	.	synonymous SNV	XPR1:NM_001135669:exon11:c.C1374T:p.C458C,XPR1:NM_004736:exon12:c.C1569T:p.C523C	Basal ganglia calcification, idiopathic, 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.1429	177.21	33	chr1	180863775	.	C	T	177.21	.	AC=2;AF=0.143;AN=14;DP=205;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=22.15;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,8:8:24:198,24,0	6	1	0	0	.
chr1	185865719	185865719	C	0	intronic	HMCN1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	416.01	38	chr1	185865719	.	C	*	416.01	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.624;DP=226;ExcessHet=2.5225;FS=2.332;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=3.47;ReadPosRankSum=-0.907;SOR=0.927	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:2,3:5:75:.:.:120,0,75:.	4	0	3	0	.
chr1	206902085	206902085	G	A	intronic	IL24	.	.	.	.	438	1082	2	0	0	2	0.000923361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	6.031e-05	0	0.0005	8.41e-05	13	154602	rs755002501	6.842e-05	6.84e-05	5.582e-05	8.114e-05	0.0012	5.714e-05	5.327e-05	0.0006	0.0004	0	4.472e-05	0	0	0	0.0012	4.317e-05	8.279e-05	0.0004	0.0001	0.0001	0.0001	0.0001	0.0005	8.163e-05	6.72e-05	0.0002	0.0002	7.218e-05	0	0.0005	0	0	0	0.0068	7.349e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	107.44	33	chr1	206902085	.	G	A	107.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.366;DP=213;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=-0.366;SOR=1.022	GT:AD:DP:GQ:PL	0/1:2,5:7:28:118,0,28	6	0	1	0	.
chr1	220761717	220761717	C	T	exonic	MTARC2	.	nonsynonymous SNV	MTARC2:NM_001317338:exon3:c.C506T:p.T169I,MTARC2:NM_001331042:exon3:c.C506T:p.T169I,MTARC2:NM_017898:exon3:c.C506T:p.T169I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.038503309495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.003	0.76473	D	0.991	0.73220	D	0.965	0.76457	D	0.002275	0.36887	N	0.232358	0.990291	0.41128	D	3.615	0.93875	H	2.16	0.19166	T	-5.06	0.83027	D	0.72	0.72209	-0.5765	0.65756	T	0.177	0.52131	T	10	0.94394475	0.93719	D	0.038503	0.58263	D	0.273	0.58883	0.835	0.94294	0.517104213562	0.51352	0.7665983862055217	0.76608	0.929494865286	0.71766	0.488572478294	0.37240	T	0.206825	0.56628	T	-0.0490393	0.44594	T	-0.308218	0.43850	T	0.963137500628639	0.66570	D	0.854215	0.54691	D	0.40384248	0.60997	0.48591194	0.70245	0.40384248	0.60998	0.48591194	0.70245	-10.681	0.77879	D	.	.	0.706	0.73186	P	.;.;.	.;.;.	3.225770	0.43974	21.8	0.99833315662400746	0.91456	0.76071	0.37282	D	AEFBI	0.617694	0.60378	D	0.313945732271386	0.56863	3.851886	0.184517936124973	0.48997	3.108501	0.353084430384048	0.19702	0.706548	0.73137	0	0.627178	0.54094	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.67	2.58	0.30011	1.334000	0.33433	1.732000	0.28335	-0.217000	0.08171	0.934000	0.32416	0.937000	0.28687	0.984000	0.60418	0.0:0.5828:0.4172:0.0	14.635	0.68284	583	0.69484	.;MOSC, N-terminal beta barrel;MOSC, N-terminal beta barrel	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	70.44	34	chr1	220761717	.	C	T	70.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=1.83;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,4:6:31:81,0,31	6	0	1	0	.
chr1	228317576	228317576	C	A	exonic	OBSCN	.	synonymous SNV	OBSCN:NM_001098623:exon52:c.C13674A:p.R4558R,OBSCN:NM_052843:exon52:c.C13674A:p.R4558R,OBSCN:NM_001271223:exon63:c.C16545A:p.R5515R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs541381539	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.07143	58.44	38	chr1	228317576	.	C	A	58.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.366;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.35;ReadPosRankSum=0.431;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:69:0|1:228317575_G_T:69,0,204:228317575	6	0	1	0	.
chr1	228317577	228317577	G	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon52:c.G13675A:p.V4559M,OBSCN:NM_052843:exon52:c.G13675A:p.V4559M,OBSCN:NM_001271223:exon63:c.G16546A:p.V5516M	.	.	.	.	.	.	.	.	.	.	.	2472577	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.509	0.411068390123	8e-05	.	2.532e-05	0	0	0	0	4.586e-05	0	0	2.59e-05	4	154602	rs368391837	2.532e-05	2.599e-05	2.995e-05	2.063e-05	3.148e-05	1.868e-05	1.631e-05	2.285e-05	2.023e-05	0	2.237e-05	0	0	0	0	3.148e-05	0	1.159e-05	1.314e-05	1.313e-05	1.285e-05	1.346e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.008	0.58626	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.000006	0.62929	D	0.000000	0.999988	0.54805	D	3.025	0.86340	M	-0.35	0.68616	T	-1.52	0.39314	N	0.429	0.46835	0.473	0.90158	D	0.600	0.85757	D	10	0.7873709	0.78362	D	0.411068	0.93599	D	0.509	0.78910	.	.	0.743235531803	0.74093	0.2667866224756007	0.26591	0.494608543549	0.48019	0.590969443321	0.51631	T	0.041863	0.25997	T	-0.0228257	0.48450	T	-0.140113	0.60109	T	0.896228015422821	0.54791	D	0.879112	0.59504	D	0.43658933	0.63182	0.40336645	0.64793	0.43658933	0.63182	0.40336645	0.64793	-10.182	0.75206	D	.	.	0.800	0.77264	P	.;.;.;.;.	.;.;.;.;.	4.296748	0.65572	24.8	0.99700274460607174	0.80591	0.97890	0.77901	D	AEFBI	0.679209	0.64331	D	0.795540790220026	0.85827	8.693558	0.678063774965472	0.80715	7.361261	0.999999983574481	0.74766	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.42	4.42	0.52775	5.924000	0.69776	11.419000	0.92710	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.573000	0.30723	0.0:0.0:1.0:0.0	17.215	0.86822	443	0.79878	.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	58.44	38	chr1	228317577	.	G	A	58.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.366;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.35;ReadPosRankSum=0.431;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:69:0|1:228317575_G_T:69,0,204:228317575	6	0	1	0	C
chr1	229595051	229595051	C	T	exonic	TAF5L	.	nonsynonymous SNV	TAF5L:NM_014409:exon5:c.G1016A:p.R339Q	.	428	1091	2	1	0	4	0.00182983	.	.	.	2285924	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.210	0.033324113518	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1488838334	1.302e-05	1.3e-05	1.635e-05	9.644e-06	0.0003	8.33e-06	6.71e-06	6.099e-05	2.524e-05	5.979e-05	2.24e-05	3.84e-05	7.566e-05	0	0.0003	7.204e-06	3.318e-05	0	3.286e-05	3.283e-05	1.285e-05	5.381e-05	2.939e-05	1.261e-05	7.98e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.939e-05	0.0010	0	0.269	0.16091	T	0.287	0.21210	T	0.6	0.39325	P	0.045	0.24526	B	0.000015	0.62929	D	0.110726	1	0.81001	D	0.775	0.19437	N	0.17	0.60485	T	-1.72	0.40850	N	0.758	0.75650	-0.9762	0.35860	T	0.113	0.40238	T	10	0.5507916	0.64244	D	0.033324	0.54903	D	0.210	0.50028	.	.	0.793628370406	0.79171	0.4924913021457778	0.49170	1.72895118267	0.90712	0.637177228928	0.58163	T	0.072382	0.34440	T	0.139642	0.68291	D	-0.0371903	0.67891	D	0.384416524196178	0.28352	T	0.893511	0.63097	D	0.10990373	0.25981	0.11211431	0.27048	0.10990373	0.25980	0.11211431	0.27047	-6.539	0.50586	T	.	.	0.097	0.16626	B	.;.	.;.	4.083024	0.60747	24.3	0.98542746703157513	0.42745	0.98899	0.88348	D	AEFDBI	0.858582	0.77612	D	0.0437623289340481	0.43856	2.670447	0.17506366424446	0.48486	3.06377	0.999999999999971	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.74	5.74	0.90070	7.898000	0.85965	4.832000	0.45208	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.0:1.0:0.0:0.0	19.920	0.97082	520	0.74355	WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	73.44	34	chr1	229595051	.	C	T	73.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.282;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=0;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,4:5:27:84,0,27	6	0	1	0	.
chr1	233328492	233328492	A	-	exonic	MAP3K21	.	frameshift deletion	MAP3K21:NM_032435:exon1:c.464delA:p.Q155Rfs*90	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	52.4	34	chr1	233328491	.	CA	C	52.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.73;ReadPosRankSum=0.341;SOR=0.693	GT:AD:DP:GQ:PL	0/1:4,2:6:63:63,0,143	6	0	1	0	.
chr1	235810105	235810105	A	-	exonic	LYST	.	stopgain	LYST:NM_000081:exon5:c.713delT:p.L238*,LYST:NM_001301365:exon5:c.713delT:p.L238*	Chediak-Higashi syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	37.4	35	chr1	235810104	.	TA	T	37.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.068;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.34;ReadPosRankSum=0;SOR=0.446	GT:AD:DP:GQ:PL	0/1:5,2:7:48:48,0,147	6	0	1	0	.
chr1	237833755	237833755	A	G	UTR3	RYR2	NM_001035:c.*1108A>G	.	.	Arrhythmogenic right ventricular dysplasia 2, Autosomal dominant;Ventricular tachycardia, catecholaminergic polymorphic, 1, Autosomal dominant	1168	353	1	0	0	1	0.00141443	.	.	.	281711	Catecholaminergic_polymorphic_ventricular_tachycardia_1|Arrhythmogenic_right_ventricular_dysplasia_2	MONDO:MONDO:0011484,MedGen:C1631597,OMIM:604772,Orphanet:3286|MedGen:C1832931	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000998403	.	.	.	.	.	.	.	.	0.0003842	10	26028	rs540171235	0	3.181e-06	0	0	.	0	0	.	.	.	.	.	.	0	.	0	0	.	0.0003	0.0003	0.0003	0.0004	0.0019	0.0003	0.0002	0.0010	0.0007	2.405e-05	0	0.0010	0	0	0	0	0.0004	0	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	83.44	77	chr1	237833755	.	A	G	83.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.06;DP=428;ExcessHet=0;FS=2.43;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.34;ReadPosRankSum=1.24;SOR=1.609	GT:AD:DP:GQ:PL	0/1:6,4:10:94:94,0,153	6	0	1	0	.
chr2	1692531	1692531	C	T	intronic	PXDN	.	.	.	Anterior segment dysgenesis 7, with sclerocornea, Autosomal recessive	421	1099	2	0	0	2	0.000909091	0	0.012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs762733444	2.191e-05	1.431e-05	2.877e-05	1.663e-05	0.0002	1.01e-05	6.85e-06	7.12e-05	4.669e-05	0	0.0002	0	0	0	0	1.255e-05	0	0	2.628e-05	2.626e-05	3.854e-05	1.345e-05	0.0002	8.14e-06	5.14e-06	5.283e-05	2.834e-05	0	0	0.0002	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	73.44	36	chr2	1692531	.	C	T	73.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.282;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=1.28;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,4:5:26:84,0,26	6	0	1	0	.
chr2	29071533	29071533	C	T	exonic	PCARE	.	nonsynonymous SNV	PCARE:NM_001029883:exon1:c.G2729A:p.S910N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00484762736987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.573	0.06125	T	0.428	0.13792	T	0.01	0.15535	B	0.009	0.14300	B	0.729547	0.09867	N	0.889170	1	0.08975	N	.	.	.	2.18	0.18875	T	-0.65	0.18877	N	0.051	0.02272	-0.9622	0.38761	T	0.025	0.10777	T	10	0.04481703	0.03482	T	0.004848	0.12161	T	0.039	0.10176	0.193	0.10437	0.12205267543	0.11705	0.08876646316841813	0.08809	0.0141472348956	0.01351	.	.	.	0.003855	0.03262	T	-0.409792	0.01994	T	-0.826415	0.01327	T	0.0180650968104601	0.00529	T	0.335866	0.07168	T	0.0382702	0.05067	0.043495454	0.05425	0.0382702	0.05066	0.043495454	0.05424	-5.273	0.39675	T	.	.	0.112	0.21877	B	.	.	0.294828	0.06710	3.216	0.1995794971397955	0.00697	0.04057	0.09505	N	AEFDBI	0.051113	0.09000	N	-1.30456236435165	0.03622	0.1621394	-1.28452641595779	0.04639	0.2192845	0.0867893587662067	0.16018	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.71	0.050	0.13605	0.070000	0.14440	-1.121000	0.06268	-0.316000	0.05924	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2496:0.4681:0.0:0.2823	4.951	0.13363	449	0.79428	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	125.44	44	chr2	29071533	.	C	T	125.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.087;DP=280;ExcessHet=0;FS=2.463;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-0.618;SOR=0.76	GT:AD:DP:GQ:PL	0/1:6,5:11:99:136,0,186	6	0	1	0	.
chr2	47466873	47466873	A	G	intronic	MSH2	.	.	.	Colorectal cancer, hereditary nonpolyposis, type 1, Autosomal dominant;Mismatch repair cancer syndrome, Autosomal recessive;Muir-Torre syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	370.21	47	chr2	47466873	.	A	G	370.21	.	AC=2;AF=0.143;AN=14;DP=297;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=33.66;SOR=0.859	GT:AD:DP:GQ:PL	1/1:0,11:11:33:391,33,0	6	1	0	0	.
chr2	60546134	60546134	G	A	exonic	BCL11A	.	synonymous SNV	BCL11A:NM_001363864:exon2:c.C222T:p.S74S,BCL11A:NM_001365609:exon2:c.C222T:p.S74S,BCL11A:NM_018014:exon2:c.C222T:p.S74S,BCL11A:NM_022893:exon2:c.C222T:p.S74S,BCL11A:NM_138559:exon2:c.C222T:p.S74S	Dias-Logan syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	747728	BCL11A-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	9.884e-05	0	0.0004	0	0	0.0001	0	0	7.76e-05	12	154602	rs764771964	6.156e-05	6.156e-05	5.717e-05	6.6e-05	0.0017	5.094e-05	4.715e-05	0.0009	0.0007	0.0003	0.0005	0.0008	0	0	0.0017	1.439e-05	0.0001	2.319e-05	0.0001	0.0001	6.424e-05	0.0002	0.0007	8.17e-05	6.726e-05	0.0004	0.0003	0	0	0.0007	0.0006	0	0	0	5.879e-05	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	1	0.001511	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	58.44	35	chr2	60546134	.	G	A	58.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.217;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.35;ReadPosRankSum=1.37;SOR=0.446	GT:AD:DP:GQ:PL	0/1:4,3:7:69:69,0,97	6	0	1	0	.
chr2	61311777	61311777	T	-	intronic	USP34	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	40.4	33	chr2	61311776	.	GT	G	40.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.493;DP=219;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.04;ReadPosRankSum=0.967;SOR=0.693	GT:AD:DP:GQ:PL	0/1:8,2:10:51:51,0,293	6	0	1	0	.
chr2	73292741	73292741	T	G	exonic	EGR4	.	synonymous SNV	EGR4:NM_001965:exon2:c.A177C:p.A59A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.07143	58.44	36	chr2	73292741	.	T	G	58.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.108;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.35;ReadPosRankSum=-0.328;SOR=0.446	GT:AD:DP:GQ:PL	0/1:4,3:7:69:69,0,100	6	0	1	0	.
chr2	73701042	73701043	TA	-	exonic	NAT8B	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	100.4	86	chr2	73701041	.	CTA	C	100.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.732;DP=776;ExcessHet=0;FS=8.451;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=0.439;SOR=2.783	GT:AD:DP:GQ:PL	0/1:5,3:8:99:111,0,201	6	0	1	0	.
chr2	74422080	74422080	G	C	intronic	WDR54	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs566771208	0.0001	0.0001	8.275e-05	0.0001	0.0012	9.251e-05	8.675e-05	0.0010	0.0009	0	0	0	0	0.0004	0.0005	2.552e-05	5.355e-05	0.0012	0.0001	0.0001	8.992e-05	0.0001	0.0023	7.085e-05	5.742e-05	0.0013	0.0010	0	0	0	0	0	0.0004	0	2.94e-05	0	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	59.44	27	chr2	74422080	.	G	C	59.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.842;DP=201;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.49;ReadPosRankSum=2.19;SOR=0.446	GT:AD:DP:GQ:PL	0/1:4,3:7:70:70,0,114	6	0	1	0	.
chr2	95150037	95150037	C	T	exonic	ZNF514	.	nonsynonymous SNV	ZNF514:NM_001318005:exon5:c.G667A:p.D223N,ZNF514:NM_032788:exon5:c.G448A:p.D150N	.	431	1086	5	0	0	5	0.00229674	.	.	.	2453410	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.046	0.0012703278923	.	.	1.647e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs765126553	8.893e-06	8.893e-06	1.089e-05	6.875e-06	0.0002	4.96e-06	3.82e-06	2.194e-05	1.43e-05	0	0	0	0	0	0.0002	4.496e-06	3.311e-05	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.511	0.07473	T	0.559	0.09144	T	0.0	0.02946	B	0.003	0.08700	B	.	.	.	.	0.999995	0.08975	N	0.75	0.19020	N	3.5	0.05014	T	-0.74	0.20791	N	0.09	0.06854	-0.9614	0.38916	T	0.011	0.04088	T	9	0.048018277	0.04197	T	0.00127	0.01733	T	0.046	0.12618	0.545	0.65873	0.208000267992	0.20380	0.02177175760786996	0.02129	0.0391618071246	0.04173	0.244533360004	0.03214	T	0.025123	0.18850	T	-0.537408	0.00347	T	-0.807072	0.01732	T	0.0225517343402341	0.00971	T	0.174883	0.01686	T	0.01988252	0.00529	0.029019812	0.01196	0.01988252	0.00529	0.029019812	0.01196	-3.21	0.12603	T	.	.	0.095	0.14706	B	.;.	.;.	0.553274	0.09217	6.001	0.52325745692660997	0.04727	0.00069	0.00489	N	AEFBCI	0.035640	0.04621	N	-1.08797316189328	0.06864	0.317186	-1.09437063746344	0.07810	0.3814027	0.0139203205759582	0.12527	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.18	2.3	0.27735	-0.322000	0.08049	-1.095000	0.06346	-0.193000	0.09282	0.000000	0.06391	0.000000	0.08366	0.567000	0.30579	0.0:0.7452:0.0:0.2548	5.482	0.16020	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.07143	58.44	34	chr2	95150037	.	C	T	58.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.04;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-0.253;SOR=1.609	GT:AD:DP:GQ:PL	0/1:3,2:5:69:69,0,76	6	0	1	0	.
chr2	96840278	96840278	A	-	exonic	ANKRD23	.	frameshift deletion	ANKRD23:NM_144994:exon6:c.578delT:p.L193Pfs*44	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	43.4	38	chr2	96840277	.	GA	G	43.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.282;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.82;ReadPosRankSum=1.38;SOR=0.495	GT:AD:DP:GQ:PL	0/1:7,2:9:54:54,0,255	6	0	1	0	.
chr2	162272256	162272256	T	C	exonic	IFIH1	.	synonymous SNV	IFIH1:NM_022168:exon13:c.A2586G:p.Q862Q	Aicardi-Goutieres syndrome 7, Autosomal dominant;Singleton-Merten syndrome 1, Autosomal dominant	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.07143	89.44	34	chr2	162272256	.	T	C	89.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.64;DP=215;ExcessHet=0;FS=6.99;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.94;ReadPosRankSum=-0.872;SOR=2.812	GT:AD:DP:GQ:PL	0/1:7,3:10:99:100,0,160	6	0	1	0	.
chr2	168181927	168181927	C	T	intronic	STK39	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs747507866	2.232e-06	2.74e-06	0	4.443e-06	0.0004	5.9e-07	1.7e-07	6.305e-05	2.6e-05	0	0	0	0	0	0.0004	0	1.774e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	60.44	35	chr2	168181927	.	C	T	60.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.44;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=0.385;SOR=0.132	GT:AD:DP:GQ:PL	0/1:3,3:6:71:71,0,102	6	0	1	0	.
chr2	178604768	178604768	T	C	exonic	TTN	.	synonymous SNV	TTN:NM_003319:exon109:c.A27126G:p.A9042A,TTN:NM_133432:exon110:c.A27501G:p.A9167A,TTN:NM_133437:exon110:c.A27702G:p.A9234A,TTN:NM_133378:exon230:c.A46617G:p.A15539A,TTN:NM_001256850:exon231:c.A49398G:p.A16466A,TTN:NM_001267550:exon281:c.A54321G:p.A18107A	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	192952	Early-onset_myopathy_with_fatal_cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Cardiovascular_phenotype|not_specified|not_provided|Tibial_muscular_dystrophy|Dilated_cardiomyopathy_1G	MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN230736|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0001	0	8.7e-05	0	0	0.0002	0	0	9.7e-05	15	154602	rs368021072	6.095e-05	6.088e-05	5.451e-05	6.746e-05	1.35e-05	5.033e-05	4.677e-05	8.11e-06	6.43e-06	0	0	0.0025	0	0	0	1.35e-05	0.0001	0	0.0001	0.0001	0.0002	8.087e-05	0.0001	7.589e-05	6.292e-05	2.267e-05	9.09e-06	2.415e-05	0	0.0001	0.0040	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.07143	106.44	36	chr2	178604768	.	T	C	106.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.699;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=0.272;SOR=0.582	GT:AD:DP:GQ:PL	0/1:3,5:8:99:117,0,99	6	0	1	0	.
chr2	190250439	190250439	T	A	intronic	HIBCH	.	.	.	3-hydroxyisobutryl-CoA hydrolase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.616e-05	7.952e-06	7.451e-06	2.283e-05	6.935e-05	5.73e-06	3.44e-06	2.318e-05	1.39e-05	0	0	0	0	0	0	6.437e-06	0	6.935e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	167.19	33	chr2	190250439	.	T	A	167.19	.	AC=2;AF=0.143;AN=14;DP=207;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=23.88;SOR=0.941	GT:AD:DP:GQ:PL	1/1:0,7:7:21:188,21,0	6	1	0	0	.
chr2	218164649	218164649	T	-	exonic	CXCR1	.	frameshift deletion	CXCR1:NM_000634:exon2:c.563delA:p.Y188Lfs*54	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	40.4	88	chr2	218164648	.	AT	A	40.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.967;DP=434;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.04;ReadPosRankSum=-0.37;SOR=0.368	GT:AD:DP:GQ:PL	0/1:8,2:10:51:51,0,293	6	0	1	0	.
chr2	218262786	218262786	C	T	exonic	GPBAR1	.	nonsynonymous SNV	GPBAR1:NM_001077191:exon2:c.C62T:p.S21F,GPBAR1:NM_001077194:exon2:c.C62T:p.S21F,GPBAR1:NM_001321950:exon2:c.C62T:p.S21F,GPBAR1:NM_170699:exon2:c.C62T:p.S21F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00810846527688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.85e-07	6.84e-07	1.363e-06	0	9e-07	0	0	.	.	0	0	0	0	0	0	9e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.37966	T	0.135	0.34124	T	0.009	0.15093	B	0.006	0.12133	B	0.008561	0.30776	N	0.207230	0.949051	0.37636	D	1.265	0.31966	L	1.43	0.32958	T	-0.67	0.19297	N	0.33	0.37093	-1.0774	0.07861	T	0.042	0.18243	T	10	0.14178291	0.26937	T	0.008108	0.21495	T	0.020	0.03691	0.276	0.22845	0.385417323374	0.38153	0.7673081177796917	0.76679	0.0460357094814	0.04998	0.48489806056	0.36732	T	0.063485	0.32189	T	-0.167101	0.25673	T	-0.477806	0.24680	T	0.374029771929662	0.27953	T	0.628837	0.24395	T	0.24659762	0.47630	0.12926577	0.31084	0.24659762	0.47630	0.12926577	0.31083	-4.946	0.36248	T	.	.	0.282	0.51532	B	.;.;.;.	.;.;.;.	2.971996	0.39618	21.0	0.94392909920747492	0.24776	0.86345	0.45607	D	AEFDBCI	0.265808	0.38285	N	-0.470869459106482	0.23038	1.234407	-0.299593045577214	0.28112	1.56488	0.999999999708477	0.74766	0.580535	0.33130	0	0.379588	0.06130	0	0.576033	0.28219	0	0.491896	0.07777	0	.	.	4.62	3.75	0.42236	3.679000	0.54368	3.996000	0.41031	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.0:0.9133:0.0:0.0867	11.748	0.51100	887	0.27948	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	160.25	33	chr2	218262786	.	C	T	160.25	.	AC=2;AF=0.143;AN=14;DP=209;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=26.71;SOR=1.329	GT:AD:DP:GQ:PL	1/1:0,6:6:18:181,18,0	6	1	0	0	.
chr2	224784657	224784657	G	C	intronic	DOCK10	.	.	.	.	431	1088	2	1	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.378e-07	6.846e-07	0	1.899e-06	1.168e-06	0	0	.	.	0	0	0	0	0	0	1.168e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	98.44	19	chr2	224784657	.	G	C	98.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.282;DP=179;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.69;ReadPosRankSum=-1.282;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,4:5:28:109,0,28	6	0	1	0	.
chr2	232014868	232014872	CTGAG	-	UTR5	DIS3L2	NM_001257282:c.-60_-56del-;NM_152383:c.-60_-56del-;NM_001257281:c.-60_-56del-	.	.	Perlman syndrome, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	285216	Perlman_syndrome	MONDO:MONDO:0009965,MedGen:C0796113,OMIM:267000,Orphanet:2849	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs886055769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	145.4	40	chr2	232014867	.	TCTGAG	T	145.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.674;DP=230;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.17;ReadPosRankSum=-0.566;SOR=0.693	GT:AD:DP:GQ:PL	0/1:4,4:8:99:156,0,156	6	0	1	0	.
chr2	232407892	232407892	C	T	exonic	ALPG	.	nonsynonymous SNV	ALPG:NM_031313:exon5:c.C523T:p.P175S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.832	0.135469373539	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	4.26	0.98092	H	-6.08	0.99517	D	-7.4	0.94758	D	0.817	0.81261	0.988	0.96983	D	0.988	0.99663	D	10	0.9902333	0.99518	D	0.135469	0.81793	D	0.832	0.94691	0.912	0.98269	0.968500111927	0.96816	0.926451466343881	0.92623	0.64558191495	0.58000	0.587133228779	0.51090	T	0.885489	0.97632	D	0.411561	0.90566	D	0.353403	0.90448	D	0.998854637145996	0.95376	D	0.925507	0.72634	D	0.836936	0.86390	0.6543339	0.79765	0.836936	0.86391	0.6543339	0.79766	-11.707	0.83395	D	.	.	0.738	0.74540	P	.	.	3.790737	0.54561	23.5	0.99768149990380728	0.85666	0.90623	0.51953	D	AEFDBHCI	0.723381	0.67301	D	0.424728551779136	0.62785	4.500304	0.13947990548909	0.46589	2.902309	0.999999203215006	0.74766	0.634777	0.41761	0	0.59043	0.45803	0	0.643519	0.47002	0	0.562822	0.20929	0	.	.	2.71	2.71	0.31092	5.649000	0.67611	5.670000	0.49252	0.412000	0.20661	1.000000	0.71638	1.000000	0.68203	0.045000	0.14751	0.0:1.0:0.0:0.0	13.810	0.62748	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	450.44	41	chr2	232407892	.	C	T	450.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.827;DP=297;ExcessHet=0;FS=2.78;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=0.203;SOR=0.812	GT:AD:DP:GQ:PL	0/1:19,21:40:99:461,0,441	6	0	1	0	.
chr2	232540079	232540079	C	T	exonic	CHRNG	.	nonsynonymous SNV	CHRNG:NM_005199:exon2:c.C143T:p.S48L	Escobar syndrome, Autosomal recessive;Multiple pterygium syndrome, lethal type, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	0.0761875677774	7.7e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs370022034	1.437e-05	1.436e-05	1.497e-05	1.375e-05	2.519e-05	9.23e-06	7.84e-06	9.31e-06	7.61e-06	0	2.236e-05	0	2.519e-05	0	0	1.529e-05	0	2.319e-05	1.314e-05	1.313e-05	2.569e-05	0	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.084	0.41364	T	0.102	0.48080	T	0.188	0.29318	B	0.108	0.31289	B	0.267040	0.15202	N	0.573778	1	0.08975	N	2.025	0.55430	M	-1.29	0.79475	T	-3.46	0.67705	D	0.246	0.31027	-0.4884	0.69065	T	0.420	0.76570	T	10	0.16248438	0.30450	T	0.076188	0.72472	D	0.280	0.59740	.	.	0.744525733801	0.74222	.	.	0.185067540199	0.20798	0.423196196556	0.28277	T	0.70695	0.91610	D	-0.0176699	0.49184	T	-0.263158	0.48508	T	0.549267709255219	0.34450	D	0.633437	0.36032	T	0.1877465	0.40243	0.23949605	0.49300	0.1877465	0.40242	0.23949605	0.49299	-8.905	0.67083	D	.	.	0.114	0.22825	B	.;.	.;.	2.841559	0.37494	20.5	0.99110980638473556	0.52725	0.16554	0.19443	N	AEFDBCI	0.142427	0.26486	N	-0.476147288902862	0.22864	1.223852	-0.564149893225855	0.20431	1.100714	0.999982082025761	0.51787	0.608966	0.35542	0	0.550933	0.16991	0	0.769059	0.98459	0	0.542086	0.14980	0	.	.	4.01	3.1	0.34780	0.462000	0.21667	1.316000	0.25570	0.589000	0.31548	0.000000	0.06391	0.007000	0.19602	0.614000	0.31742	0.141:0.3509:0.5081:0.0	9.207	0.36459	917	0.20147	Neurotransmitter-gated ion-channel ligand-binding domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	107.44	38	chr2	232540079	.	C	T	107.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21.49;ReadPosRankSum=-0.253;SOR=0.693	GT:AD:DP:GQ:PL	0/1:1,4:5:27:118,0,27	6	0	1	0	.
chr2	237346659	237346659	C	G	intronic	COL6A3	.	.	.	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	2	1519	1	0	0	1	0.000329056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs553247373	9.138e-05	6.884e-05	6.017e-05	0.0001	0.0008	7.557e-05	6.961e-05	0.0007	0.0006	0	0	0	0	0	0.0006	2.65e-05	9.443e-05	0.0008	5.914e-05	5.906e-05	3.857e-05	8.063e-05	0.0010	3.077e-05	2.21e-05	0.0004	0.0003	0	0	6.539e-05	0	0	0	0	4.411e-05	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	94.44	40	chr2	237346659	.	C	G	94.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.355;DP=233;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=0.712;SOR=0.85	GT:AD:DP:GQ:PL	0/1:5,5:10:99:105,0,112	6	0	1	0	.
chr3	3845835	3845835	C	A	exonic	LRRN1	.	nonsynonymous SNV	LRRN1:NM_020873:exon2:c.C1194A:p.F398L,LRRN1:NM_001324188:exon3:c.C1194A:p.F398L,LRRN1:NM_001324189:exon3:c.C1194A:p.F398L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.0108466300923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.005128	0.33071	N	0.369809	1	0.81001	D	0.175	0.09039	N	0.63	0.53088	T	0.62	0.02442	N	0.143	0.14338	-1.0469	0.15274	T	0.048	0.20315	T	10	0.087144434	0.14883	T	0.010847	0.27853	T	0.049	0.13647	0.295	0.25881	0.165150595986	0.16160	0.45043792302724356	0.44961	0.216955615391	0.24212	0.638128042221	0.58298	T	0.01945	0.15495	T	-0.210893	0.19253	T	-0.54071	0.18227	T	0.0890955254435539	0.11109	T	0.792121	0.43364	T	0.08043101	0.18428	0.06990063	0.14787	0.08043101	0.18427	0.06990063	0.14787	-2.049	0.03371	T	.	.	0.455	0.62430	A	.	.	1.535178	0.19691	14.39	0.86479938267518486	0.16564	0.86737	0.46082	D	AEFDBI	0.554916	0.56557	D	-0.628112951755608	0.18103	0.9371998	-0.408168031519712	0.24757	1.357529	0.176232048384493	0.17808	0.631515	0.41029	0	0.573888	0.26702	0	0.697927	0.64325	0	0.564101	0.26826	0	.	.	5.65	2.41	0.28644	0.133000	0.15736	0.616000	0.20081	0.599000	0.40250	0.960000	0.33603	0.998000	0.33993	0.991000	0.66497	0.0:0.6884:0.1306:0.1809	8.422	0.31869	940	0.13648	Cysteine-rich flanking region, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	38.44	60	chr3	3845835	.	C	A	38.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.981;DP=441;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.49;ReadPosRankSum=0;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:49:0|1:3845835_C_A:49,0,191:3845835	6	0	1	0	.
chr3	16378162	16378162	-	C	intronic	RFTN1	.	.	.	.	434	1083	5	0	0	5	0.00230309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1236698013	0.0006	0.0006	0.0004	0.0009	0.0097	0.0006	0.0006	0.0091	0.0089	3.321e-05	0.0002	4.417e-05	0	0	0.0009	2.846e-05	0.0006	0.0097	0.0004	0.0004	0.0002	0.0007	0.0126	0.0003	0.0003	0.0101	0.0092	0	0	0.0001	0.0003	0	0	0	1.47e-05	0	0.0126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	58.4	36	chr3	16378162	.	G	GC	58.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.068;DP=226;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.34;ReadPosRankSum=0;SOR=0.148	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:69:0|1:16378162_G_GC:69,0,204:16378162	6	0	1	0	.
chr3	16378166	16378176	AGCGTGCAAAG	-	intronic	RFTN1	.	.	.	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1282173439	0.0006	0.0006	0.0004	0.0009	0.0095	0.0006	0.0006	0.0090	0.0087	3.318e-05	0.0001	4.436e-05	0	0	0.0010	2.948e-05	0.0007	0.0095	0.0004	0.0004	0.0002	0.0007	0.0126	0.0003	0.0003	0.0101	0.0092	0	0	0.0001	0.0003	0	0	0	1.47e-05	0	0.0126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	58.4	36	chr3	16378165	.	CAGCGTGCAAAG	C	58.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.068;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.34;ReadPosRankSum=0;SOR=0.148	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:69:0|1:16378162_G_GC:69,0,204:16378162	6	0	1	0	C
chr3	37063779	37063779	C	T	exonic	LRRFIP2	.	nonsynonymous SNV	LRRFIP2:NM_001348311:exon10:c.G749A:p.R250Q,LRRFIP2:NM_017724:exon10:c.G749A:p.R250Q,LRRFIP2:NM_001134369:exon11:c.G821A:p.R274Q,LRRFIP2:NM_001348308:exon11:c.G851A:p.R284Q,LRRFIP2:NM_001348309:exon11:c.G851A:p.R284Q,LRRFIP2:NM_001348310:exon11:c.G821A:p.R274Q,LRRFIP2:NM_001348304:exon12:c.G944A:p.R315Q,LRRFIP2:NM_001348305:exon12:c.G923A:p.R308Q,LRRFIP2:NM_001348306:exon12:c.G923A:p.R308Q,LRRFIP2:NM_001348307:exon12:c.G923A:p.R308Q,LRRFIP2:NM_001348301:exon13:c.G1016A:p.R339Q,LRRFIP2:NM_001348302:exon13:c.G1016A:p.R339Q,LRRFIP2:NM_001348303:exon13:c.G953A:p.R318Q,LRRFIP2:NM_001348299:exon14:c.G1025A:p.R342Q,LRRFIP2:NM_001348300:exon14:c.G1025A:p.R342Q,LRRFIP2:NM_001282691:exon15:c.G1058A:p.R353Q,LRRFIP2:NM_001348298:exon18:c.G1199A:p.R400Q,LRRFIP2:NM_001348297:exon20:c.G1409A:p.R470Q,LRRFIP2:NM_006309:exon24:c.G1712A:p.R571Q	.	453	1067	1	1	0	3	0.00140384	.	.	.	4157389	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.228	0.0092805273927	.	.	1.649e-05	0	0	0	0	3e-05	0	0	1.29e-05	2	154602	rs762000660	1.371e-05	1.505e-05	1.365e-05	1.378e-05	0.0002	8.95e-06	7.28e-06	9.91e-06	3.89e-06	5.985e-05	2.236e-05	0	0	0	0.0002	9.916e-06	6.637e-05	1.161e-05	1.974e-05	1.971e-05	1.286e-05	2.694e-05	2.941e-05	5.25e-06	2.46e-06	4.88e-06	1.83e-06	2.417e-05	0	0	0	0	0	0	2.941e-05	0	0	0.035	0.57480	D	0.11	0.49663	T	0.997	0.77913	D	0.752	0.76113	P	0.000004	0.62929	N	0.062536	1	0.81001	D	2.185	0.61350	M	0.97	0.42502	T	-2.19	0.56466	N	0.359	0.43417	-0.8694	0.50574	T	0.182	0.52919	T	10	0.32853478	0.50121	T	0.009281	0.24366	T	0.228	0.52768	0.581	0.70733	0.494031935134	0.49039	0.46406284681489607	0.46325	.	.	0.631773233414	0.57397	T	0.08551	0.37517	T	-0.182689	0.23336	T	-0.3199	0.42585	T	0.450912088155746	0.30830	T	0.914708	0.69569	D	0.31364712	0.54099	0.21462417	0.46019	0.31364712	0.54099	0.21462417	0.46018	-13.176	0.90074	D	.	.	0.079	0.18456	B	.;.;.;.;.	.;.;.;.;.	5.384091	0.90224	31	0.99945056506454322	0.99886	0.97556	0.75524	D	AEFBI	0.623917	0.60768	D	0.401325081284656	0.61497	4.351455	0.417913807119735	0.62682	4.48764	0.999976565533334	0.50053	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.63	4.76	0.60189	4.800000	0.62218	4.818000	0.45095	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.9256:0.0:0.0744	13.591	0.61425	154	0.93967	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	99.44	33	chr3	37063779	.	C	T	99.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.842;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.21;ReadPosRankSum=2.19;SOR=1.022	GT:AD:DP:GQ:PL	0/1:3,4:7:63:110,0,63	6	0	1	0	.
chr3	40482000	40482000	A	G	exonic	ZNF619	.	nonsynonymous SNV	ZNF619:NM_001145094:exon3:c.A64G:p.K22E,ZNF619:NM_173656:exon3:c.A64G:p.K22E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.000888137521725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.904e-07	1.368e-06	0	1.388e-06	9.03e-07	0	0	.	.	0	0	0	0	0	0	9.03e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.053	0.47336	T	0.98	0.59353	D	0.968	0.71741	D	.	.	.	.	1	0.08975	N	.	.	.	3.18	0.07478	T	0.06	0.06253	N	0.419	0.47765	-1.0008	0.29688	T	0.031	0.13286	T	8	0.24244899	0.41441	T	8.88E-4	0.00822	T	0.040	0.10527	0.376	0.38994	0.478680857624	0.47498	.	.	.	.	.	.	.	0.006936	0.08179	T	-0.160174	0.26733	T	-0.467856	0.25746	T	0.134536677611612	0.15794	T	0.370863	0.08760	T	0.14426468	0.33121	0.17960615	0.40706	0.14426468	0.33120	0.17960615	0.40705	-3.131	0.11656	T	.	.	0.126	0.47195	B	.;.;.	.;.;.	0.316296	0.06913	3.451	0.98497228723182728	0.42168	0.01695	0.05397	N	AEFDBCI	0.015957	0.00331	N	-0.350464413073697	0.27255	1.493893	-0.562927166290726	0.20462	1.102597	0.0853517352131863	0.15979	0.556989	0.30585	1	0.487994	0.07600	2	0.658983	0.55881	0	0.635551	0.53088	0	.	.	3.17	-0.975	0.09764	-0.318000	0.08091	-7.890000	0.01067	0.660000	0.55035	0.000000	0.06391	0.000000	0.08366	0.550000	0.30174	0.4828:0.0:0.2832:0.234	2.149	0.03563	626	0.65439	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	120.55	34	chr3	40482000	.	A	G	120.55	.	AC=2;AF=0.143;AN=14;DP=212;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=24.11;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,5:5:15:141,15,0	6	1	0	0	.
chr3	44396456	44396456	G	A	exonic	TCAIM	.	nonsynonymous SNV	TCAIM:NM_001282913:exon7:c.G752A:p.R251H,TCAIM:NM_001282914:exon7:c.G320A:p.R107H,TCAIM:NM_001282915:exon7:c.G320A:p.R107H,TCAIM:NM_173826:exon7:c.G752A:p.R251H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.038492704974	.	.	8.533e-06	0	0	0	0	1.546e-05	0	0	6.5e-06	1	154602	rs774393777	5.474e-06	6.84e-06	6.809e-06	4.127e-06	2.519e-05	2.36e-06	1.7e-06	2.62e-06	1.68e-06	0	0	0	2.519e-05	0	0	6.296e-06	0	0	1.972e-05	1.971e-05	1.285e-05	2.691e-05	2.939e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.417e-05	0	0	0	0	0	0	2.939e-05	0	0	0.014	0.53172	D	0.012	0.63918	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.445	0.70938	M	0.7	0.51474	T	-2.58	0.55662	D	0.644	0.65673	-0.3938	0.72222	T	0.307	0.67749	T	10	0.7737918	0.77294	D	0.038493	0.58257	D	0.376	0.69443	0.649	0.78648	0.716108874736	0.71361	0.6948801469688866	0.69429	0.909994252364	0.71020	0.532386898994	0.43371	T	0.34283	0.71156	T	0.131122	0.67469	D	-0.0339427	0.68107	D	0.981799185276031	0.74115	D	0.963804	0.86607	D	0.31058422	0.53837	0.18989459	0.42361	0.31058422	0.53837	0.18989459	0.42360	-3.294	0.13660	T	.	.	0.337	0.60188	B	.;.	.;.	5.320511	0.89306	29.9	0.99946501289335965	0.99901	0.95115	0.63493	D	AEFBCI	0.876095	0.79991	D	0.802985660626344	0.86290	8.838837	0.759681464540811	0.86880	9.032686	0.999975141151572	0.50053	0.651	0.46895	0	0.670034	0.63936	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	5.6	4.73	0.59485	8.611000	0.90689	9.980000	0.82917	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0703:0.0:0.9297:0.0	14.593	0.67979	266	0.89551	Domain of unknown function DUF4461;Domain of unknown function DUF4461	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	64.44	23	chr3	44396456	.	G	A	64.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.242;DP=196;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.05;ReadPosRankSum=1.1;SOR=0.223	GT:AD:DP:GQ:PL	0/1:4,4:8:75:75,0,95	6	0	1	0	.
chr3	45146321	45146321	C	T	UTR5	CDCP1	NM_022842:c.-34G>A;NM_178181:c.-34G>A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.264e-05	0	0	0	0	4.142e-05	0	0	6.5e-06	1	154602	rs748527570	7.983e-06	1.437e-05	5.758e-06	1.025e-05	8.384e-06	4.28e-06	3.13e-06	3.94e-06	2.86e-06	0	0	0	0	0	0	8.384e-06	3.522e-05	0	6.574e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	110.44	35	chr3	45146321	.	C	T	110.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.967;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-0.366;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,6:9:57:121,0,57	6	0	1	0	.
chr3	50342546	50342546	T	C	exonic	ZMYND10	.	nonsynonymous SNV	ZMYND10:NM_001308379:exon7:c.A709G:p.S237G,ZMYND10:NM_015896:exon8:c.A724G:p.S242G	Ciliary dyskinesia, primary, 22, Autosomal recessive	426	1095	1	0	0	1	0.000456413	.	.	.	559588	Inborn_genetic_diseases|Primary_ciliary_dyskinesia	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.097	0.00287728924572	.	.	5.052e-05	0	0	0	0	6.109e-05	0	0.0001	3.88e-05	6	154602	rs761674579	3.764e-05	3.762e-05	3.676e-05	3.852e-05	0.0012	2.961e-05	2.657e-05	0.0006	0.0004	2.988e-05	2.237e-05	0	0	0	0.0012	3.149e-05	6.625e-05	8.116e-05	3.943e-05	3.94e-05	3.854e-05	4.036e-05	7.35e-05	1.715e-05	1.129e-05	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.35e-05	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.000000	0.84330	N	0.087906	0.799	0.29133	N	-1.695	0.00361	N	.	.	.	1.31	0.02195	N	0.204	0.22614	-1.0026	0.29168	T	0.027	0.11529	T	9	0.046953708	0.03951	T	0.002877	0.06074	T	0.097	0.27909	0.37	0.38013	0.0138822411134	0.00435	0.13539069650394472	0.13463	0.145835923067	0.16471	0.314511865377	0.12589	T	0.088362	0.38141	T	-0.295213	0.09118	T	-0.480301	0.24414	T	0.0111235967916884	0.00162	T	0.60094	0.22456	T	0.10061424	0.23759	0.09970108	0.23814	0.10061424	0.23759	0.09970108	0.23814	-0.022	0.00999	T	0.04093206202061082	0.00379	0.046	0.00136	B	.;.;.	.;.;.	0.894858	0.12684	9.208	0.56998218893019115	0.05673	0.07567	0.13579	N	AEFBI	0.125638	0.24222	N	-0.905824988714973	0.10705	0.5128622	-0.663683247047754	0.17871	0.9522258	0.999999761360093	0.74766	0.582742	0.33608	0	0.547309	0.14657	0	0.61531	0.40942	0	0.645665	0.59343	0	.	.	5.77	3.99	0.45527	3.878000	0.55843	3.314000	0.37488	-0.201000	0.08892	0.998000	0.41325	0.998000	0.33993	0.006000	0.07323	0.0:0.8449:0.0:0.1551	10.215	0.42339	2	0.99499	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.005051	0.000000	0.000000	0.000000	0.000000	0.003086	0.000000	0.07143	102.44	38	chr3	50342546	.	T	C	102.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.981;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.63;ReadPosRankSum=0.06;SOR=0.18	GT:AD:DP:GQ:PL	0/1:2,5:7:61:113,0,61	6	0	1	0	.
chr3	52512674	52512674	G	T	intronic	STAB1	.	.	.	.	371	1150	1	0	0	1	0.000434594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	1.663e-05	0	0	0	0	3.036e-05	0	0	1.29e-05	2	154602	rs375685131	2.053e-05	2.052e-05	1.634e-05	2.476e-05	2.428e-05	1.457e-05	1.264e-05	1.663e-05	1.425e-05	0	0	0	0	0	0	2.428e-05	1.656e-05	2.319e-05	6.57e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.413e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	212.44	28	chr3	52512674	.	G	T	212.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.507;DP=252;ExcessHet=0;FS=2.398;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.7;ReadPosRankSum=0.003;SOR=0.223	GT:AD:DP:GQ:PL	0/1:4,8:12:95:223,0,95	6	0	1	0	.
chr3	57402413	57402413	G	A	intronic	DNAH12	.	.	.	.	436	1084	2	0	0	2	0.000921659	.	.	.	3656041	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.046	0.105638505309	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs782264130	2.342e-05	1.915e-05	3.234e-05	1.415e-05	7.787e-05	1.604e-05	1.375e-05	1.863e-05	1.575e-05	0	0	0	7.787e-05	0	0	2.715e-05	2.403e-05	0	1.317e-05	1.314e-05	1.287e-05	1.348e-05	6.561e-05	2.19e-06	8.2e-07	.	.	0	0	6.561e-05	0	0	0	0	1.471e-05	0	0	0.646	0.04912	T	.	.	.	0.36	0.33860	B	0.026	0.20792	B	.	.	.	.	1	0.08975	N	0.145	0.08828	N	0.6	0.53731	T	-1.85	0.43334	N	0.141	0.14054	-1.0649	0.10572	T	0.060	0.25273	T	9	0.1061022	0.19644	T	0.105639	0.78085	D	0.046	0.12618	.	.	0.16115917748	0.15686	.	.	.	.	0.436486959457	0.30097	T	0.013922	0.11951	T	-0.165802	0.25871	T	-0.460454	0.26549	T	0.0442902631944145	0.04474	T	0.334967	0.07125	T	0.03389705	0.03701	0.04540881	0.06102	0.03389705	0.03701	0.04540881	0.06101	-1.426	0.01619	T	.	.	0.156	0.34492	B	.	.	0.517528	0.08863	5.643	0.32037063394330212	0.01836	0.00931	0.03609	N	AEFI	0.023150	0.01251	N	-1.12423170413231	0.06215	0.2854699	-1.17015759912727	0.06413	0.3086379	1.75608481166736E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.48	0.712	0.17324	0.222000	0.17482	0.964000	0.23011	-0.245000	0.07249	0.004000	0.16614	0.014000	0.20376	0.074000	0.16894	0.3702:0.0:0.6298:0.0	5.435	0.15776	305	0.87738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	66.44	40	chr3	57402413	.	G	A	66.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.524;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-1.036;SOR=1.179	GT:AD:DP:GQ:PL	0/1:2,3:5:34:77,0,34	6	0	1	0	.
chr3	67520561	67520561	C	-	exonic	SUCLG2	.	frameshift deletion	SUCLG2:NM_001177599:exon5:c.491delG:p.G164Afs*36,SUCLG2:NM_003848:exon5:c.491delG:p.G164Afs*36	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	49.4	34	chr3	67520560	.	GC	G	49.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=213;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=0.524;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,2:5:60:60,0,97	6	0	1	0	.
chr3	114056820	114056820	T	G	UTR5	QTRT2	NM_001256836:c.-30T>G;NM_001256837:c.-13842T>G;NM_001256835:c.-30T>G;NM_024638:c.-8438T>G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.519e-05	1.436e-05	1.428e-05	1.612e-05	1.947e-05	9.76e-06	8.28e-06	1.251e-05	1.062e-05	0	0	0	0	0	0	1.947e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	64.44	33	chr3	114056820	.	T	G	64.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.05;ReadPosRankSum=-1.465;SOR=0.693	GT:AD:DP:GQ:PL	0/1:4,4:8:75:75,0,75	6	0	1	0	.
chr3	120181226	120181226	T	G	exonic	GPR156	.	nonsynonymous SNV	GPR156:NM_001168271:exon8:c.A820C:p.T274P,GPR156:NM_153002:exon8:c.A832C:p.T278P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.691	0.107868613729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.072	0.43531	T	0.984	0.60733	D	0.899	0.63802	P	0.023440	0.26444	N	0.353536	0.98279	0.39935	D	1.24	0.30952	L	-1.88	0.84487	D	-2.87	0.60348	D	0.715	0.72120	-0.0581	0.81034	T	0.581	0.84907	D	9	0.8496872	0.84142	D	0.107869	0.78414	D	0.691	0.88773	0.748	0.87905	0.512424132817	0.50885	0.8665117443650924	0.86616	1.00069180223	0.74397	0.513661623001	0.40734	T	0.526503	0.83536	D	0.211336	0.74954	D	0.0657928	0.74629	D	0.899183564937913	0.55144	D	0.573543	0.20534	T	0.5423993	0.69530	0.6012671	0.76834	0.5423993	0.69532	0.6012671	0.76835	-8.387	0.63679	D	.	.	0.181	0.42578	B	.;.;.	.;.;.	3.330991	0.45857	22.2	0.99606678971749019	0.74575	0.80657	0.40238	D	AEFDGBHI	0.415739	0.48448	N	0.33245233370296	0.57821	3.951085	0.301900963199653	0.55650	3.727988	0.999946867948577	0.47345	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	6.08	2.42	0.28720	2.026000	0.40689	2.280000	0.31891	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1262:0.1479:0.1471:0.5789	2.034	0.03320	783	0.47268	GPCR family 3, C-terminal|GPCR family 3, C-terminal;GPCR family 3, C-terminal|GPCR family 3, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	188.44	33	chr3	120181226	.	T	G	188.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.023;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.13;ReadPosRankSum=1.18;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,8:11:57:199,0,57	6	0	1	0	.
chr3	130423773	130423773	A	G	intronic	COL6A5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.745e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	64.44	26	chr3	130423773	.	A	G	64.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=163;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:75:0|1:130423766_T_G:75,0,120:130423766	6	0	1	0	.
chr3	130661954	130661954	G	A	exonic	COL6A6	.	nonsynonymous SNV	COL6A6:NM_001102608:exon34:c.G6148A:p.E2050K	.	428	1089	5	0	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00702338526753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	4.084e-06	0	1.159e-05	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	0	3.313e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.551	0.06564	T	0.061	0.45530	T	0.032	0.20242	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	2.495	0.72670	M	2.63	0.12884	T	-1.52	0.36980	N	0.304	0.34336	-0.9907	0.32424	T	0.024	0.10058	T	9	0.078474015	0.12510	T	0.007023	0.18594	T	0.006	0.00375	0.426	0.47185	0.130388298395	0.12655	0.3359731534233979	0.33510	0.0632575007222	0.07043	0.29738137126	0.10012	T	0.069822	0.33806	T	-0.343901	0.05123	T	-0.634913	0.10044	T	0.0490264598123526	0.05328	T	0.381062	0.09207	T	0.0314636	0.02992	0.056967944	0.10272	0.0314636	0.02992	0.056967944	0.10271	-4.633	0.32583	T	.	.	0.094	0.14523	B	.	.	0.742439	0.11117	7.764	0.94417297655061239	0.24821	0.08502	0.14423	N	AEFBI	0.090567	0.18351	N	-0.880173432001283	0.11315	0.5453859	-0.883812025929149	0.12477	0.6420301	0.00385233702879191	0.10307	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	6.04	1.24	0.20416	0.125000	0.15577	0.610000	0.20021	-0.106000	0.15538	0.005000	0.17040	0.025000	0.21018	0.000000	0.00833	0.204:0.2738:0.5221:0.0	7.227	0.25197	448	0.79501	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	49.44	34	chr3	130661954	.	G	A	49.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.052;DP=213;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.94;ReadPosRankSum=0.431;SOR=0.892	GT:AD:DP:GQ:PL	0/1:7,3:10:60:60,0,182	6	0	1	0	.
chr3	142820954	142820954	C	T	exonic	PCOLCE2	.	synonymous SNV	PCOLCE2:NM_013363:exon8:c.G1041A:p.L347L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.00981229738489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.802	0.03101	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.08	0.20255	T	2.08	0.00371	N	0.241	0.27197	-1.0343	0.19078	T	0.022	0.09238	T	6	0.105404586	0.19480	T	0.009812	0.25586	T	0.191	0.46948	0.27	0.21893	0.3691244813	0.36518	.	.	.	.	.	.	.	0.006285	0.05717	T	-0.110913	0.34616	T	-0.397096	0.33722	T	0.256952290071257	0.23181	T	0.325967	0.15470	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.17827	B	.;.	.;.	1.017997	0.13976	10.54	0.84953233416109653	0.15596	0.85412	0.44542	D	AEFBI	0.176081	0.30327	N	0.128742230064733	0.47808	3.001326	0.238250645270504	0.51983	3.376457	0.998984578781777	0.38135	0.626454	0.40138	0	0.627178	0.54094	0	0.80507	0.99327	0	0.530356	0.10902	0	.	.	5.64	5.64	0.86480	1.306000	0.33110	3.330000	0.37619	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.8842:0.0:0.1158	10.766	0.45494	608	0.67185	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	52.44	33	chr3	142820954	.	C	T	52.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.282;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.83;ReadPosRankSum=0.282;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,2:9:63:0|1:142820954_C_T:63,0,288:142820954	6	0	1	0	.
chr3	142820955	142820955	A	T	exonic	PCOLCE2	.	stopgain	PCOLCE2:NM_013363:exon8:c.T1040A:p.L347X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	2.09	0.20122	T	0.01	0.06868	N	0.143	0.14338	-1.0532	0.13520	T	0.061	0.25635	T	6	0.37553144	0.53802	T	.	.	.	0.219	0.51417	0.397	0.42426	0.68576314552	0.68307	.	.	.	.	.	.	.	0.011604	0.10331	T	-0.0153502	0.49513	T	-0.259826	0.48841	T	0.995457053184509	0.87455	D	0.226077	0.07366	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.669	0.71681	P	.;.	.;.	9.152494	0.98539	40	0.99334236761793548	0.59895	0.99395	0.95476	D	AEFBI	0.976366	0.99669	D	0.949390018152874	0.93961	12.40035	0.83787636598892	0.92288	11.34099	0.99999999859307	0.74766	0.626454	0.40138	0	0.627178	0.54094	0	0.80507	0.99327	0	0.530356	0.10902	0	.	.	5.64	5.64	0.86480	8.877000	0.92017	11.206000	0.89223	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	1.0:0.0:0.0:0.0	15.843	0.78646	608	0.67185	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	52.44	33	chr3	142820955	.	A	T	52.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.282;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.83;ReadPosRankSum=0.282;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,2:9:63:0|1:142820954_C_T:63,0,288:142820954	6	0	1	0	C
chr3	151744130	151744130	A	G	exonic	AADACL2	.	synonymous SNV	AADACL2:NM_207365:exon3:c.A399G:p.A133A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs755766477	2.053e-06	2.052e-06	4.085e-06	0	8.963e-05	5.5e-07	1.5e-07	2.375e-05	1.258e-05	8.963e-05	0	0	0	0	0	0	0	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	4.827e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.827e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.07143	64.44	34	chr3	151744130	.	A	G	64.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.524;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:75:0|1:151744130_A_G:75,0,120:151744130	6	0	1	0	.
chr3	151744132	151744132	A	G	exonic	AADACL2	.	nonsynonymous SNV	AADACL2:NM_207365:exon3:c.A401G:p.N134S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00163236413281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.17296	T	0.455	0.12776	T	0.167	0.28604	B	0.081	0.28987	B	0.619467	0.10791	N	0.842861	1	0.08975	N	1.1	0.28011	L	2.84	0.10674	T	-2.38	0.52451	N	0.095	0.07535	-0.9521	0.40608	T	0.020	0.08266	T	10	0.081477314	0.13341	T	0.001632	0.02651	T	0.018	0.03083	0.341	0.33302	0.0297737177859	0.01360	0.12220961315704464	0.12147	0.0601548666932	0.06689	0.322019159794	0.13727	T	0.081288	0.36561	T	-0.396114	0.02455	T	-0.806767	0.01739	T	0.0772095225447256	0.09627	T	.	.	.	0.07222753	0.16050	0.0794341	0.17880	0.07222753	0.16049	0.0794341	0.17880	-2.733	0.07584	T	.	.	0.078	0.06849	B	.	.	0.871084	0.12438	8.973	0.53227821042599344	0.04898	0.04294	0.09839	N	AEFDGBIJ	0.061380	0.11730	N	-0.980026831680985	0.09030	0.4257508	-1.01314085315125	0.09496	0.4727586	0.994589010518123	0.33706	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.662026	0.63922	0	.	.	5.18	-0.117	0.12891	-0.136000	0.10384	0.536000	0.19291	-0.095000	0.16041	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.513:0.1337:0.2242:0.1291	1.508	0.02340	866	0.32446	Alpha/beta hydrolase fold-3	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	64.44	34	chr3	151744132	.	A	G	64.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=1.65;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:75:0|1:151744130_A_G:75,0,120:151744130	6	0	1	0	C
chr3	184249181	184249181	C	A	intronic	ALG3	.	.	.	Congenital disorder of glycosylation, type Id, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.145e-06	4.105e-06	4.118e-06	4.173e-06	5.431e-06	1.49e-06	9.8e-07	1.95e-06	1.28e-06	0	0	0	0	0	0	5.431e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	147.44	35	chr3	184249181	.	C	A	147.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.473;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=-1.691;SOR=0.941	GT:AD:DP:GQ:PL	0/1:4,7:11:66:158,0,66	6	0	1	0	.
chr3	195781220	195781220	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	15114.0	228	chr3	195781220	.	T	*	15114.0	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.767;DP=2130;ExcessHet=0.4813;FS=0.546;MLEAC=1;MLEAF=0.071;MQ=58.7;MQRankSum=10.38;QD=17.89;ReadPosRankSum=1.3;SOR=0.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,6:33:99:0|1:195781188_TG_T:170,0,1054:195781188	6	0	1	0	.
chr3	195781230	195781230	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	5098.35	200	chr3	195781230	.	A	*	5098.35	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.542;DP=2167;ExcessHet=0.3476;FS=0.545;MLEAC=1;MLEAF=0.083;MQ=54.82;MQRankSum=-3.19;QD=10.71;ReadPosRankSum=-9.625;SOR=0.802	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,6:33:99:0|1:195781188_TG_T:170,0,1054:195781188	5	0	1	1	C
chr3	195781628	195781628	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	13811.8	197	chr3	195781628	.	C	*	13811.8	.	AC=7;AF=0.5;AN=14;BaseQRankSum=2.55;DP=2021;ExcessHet=1.1394;FS=1.351;MLEAC=7;MLEAF=0.5;MQ=55.87;MQRankSum=-2.156;QD=7.01;ReadPosRankSum=0.308;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:19,7:26:99:.:.:239,0,753:.	2	2	3	0	C
chr3	195781727	195781727	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G9853A:p.D3285N,MUC4:NM_001322468:exon11:c.G8749A:p.D2917N	.	459	1061	2	0	0	2	0.00094162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.000773422716589	.	.	0.0003	0.0030	0	0	0	0	0	0.0001	.	.	.	rs1217189945	0.0001	0.0007	0.0002	0.0001	0.0062	0.0001	0.0001	0.0054	0.0051	0.0062	9.154e-05	0	0.0001	0	0.0003	1.536e-05	0.0001	2.687e-05	0.0001	0.0007	0.0001	0.0001	0.0005	6.831e-05	5.35e-05	0.0001	9.894e-05	0.0003	0	0.0003	0	0.0005	0	0	1.774e-05	0	0	0.207	0.19854	T	0.46	0.12668	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.5	0.31731	T	-0.12	0.08809	N	0.056	0.02759	-1.0032	0.28992	T	0.029	0.12365	T	8	0.011815995	0.00257	T	7.73E-4	0.00568	T	0.021	0.04004	.	.	0.0138822411134	0.00435	2.743603196124897E-4	0.00024	.	.	0.540704369545	0.44544	T	.	.	.	-0.401285	0.02271	T	-0.814195	0.01573	T	0.0193586512932325	0.00641	T	0.670833	0.27951	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.15921	B	.;.	.;.	2.066037	0.26275	17.06	0.92174777314428225	0.21539	0.00078	0.00535	N	AEFBI	0.051815	0.09190	N	-1.24298654278773	0.04392	0.198147	-1.33118792865804	0.04032	0.1893627	1.24445491729759E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.423	0.423	0.15679	-1.178000	0.03203	-0.090000	0.12069	0.084000	0.17577	0.001000	0.13787	0.000000	0.08366	0.023000	0.12082	1.0E-4:0.5559:0.444:1.0E-4	4.212	0.09970	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	216.44	37	chr3	195781727	.	C	T	216.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.4;DP=630;ExcessHet=0;FS=8.82;MLEAC=1;MLEAF=0.071;MQ=45.15;MQRankSum=3.84;QD=12.73;ReadPosRankSum=0.187;SOR=2.815	GT:AD:DP:GQ:PL	0/1:9,8:17:99:227,0,200	6	0	1	0	C
chr3	195785088	195785088	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	239.4	799	chr3	195785088	.	G	*	239.4	.	AC=2;AF=0.2;AN=10;BaseQRankSum=1.32;DP=4640;ExcessHet=0;FS=0.573;MLEAC=2;MLEAF=0.2;MQ=57.48;MQRankSum=0.325;QD=0.5;ReadPosRankSum=-0.181;SOR=0.608	GT:AD:DP:GQ:PL	0/1:12,12:42:59:657,251,758	3	0	2	2	C
chr3	195785133	195785133	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	81945.5	947	chr3	195785133	.	T	*	81945.5	.	AC=2;AF=0.25;AN=8;DP=4831;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.375;MQ=56.74;QD=33.38;SOR=0.734	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,12:39:99:.:.:1847,952,918:.	2	0	2	3	C
chr4	1803108	1803108	C	G	intronic	FGFR3	.	.	.	Achondroplasia, Autosomal dominant;Bladder cancer, somatic;CATSHL syndrome, Autosomal recessive, Autosomal dominant;Cervical cancer, somatic;Colorectal cancer, somatic;Crouzon syndrome with acanthosis nigricans, Autosomal dominant;Hypochondroplasia, Autosomal dominant;LADD syndrome, Autosomal dominant;Muenke syndrome, Autosomal dominant;Nevus, epidermal, somatic;SADDAN, Autosomal dominant;Spermatocytic seminoma, somatic;Thanatophoric dysplasia, type I, Autosomal dominant;Thanatophoric dysplasia, type II, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.671e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs767383309	1.179e-05	1.231e-05	2.897e-06	2.099e-05	0.0002	6.98e-06	5.65e-06	0.0001	0.0001	0	0	0	0	0	0.0002	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	73.44	25	chr4	1803108	.	C	G	73.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.282;DP=194;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=-1.282;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,4:5:29:84,0,29	6	0	1	0	.
chr4	56593590	56593590	C	G	intronic	THEGL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1399319573	1.378e-05	1.439e-05	1.51e-05	1.245e-05	0.0002	9e-06	7.32e-06	1.02e-05	8.42e-06	0	0	0	0	0	0.0002	1.633e-05	1.666e-05	0	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	104.44	38	chr4	56593590	.	C	G	104.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.566;DP=276;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=1.44;SOR=1.022	GT:AD:DP:GQ:PL	0/1:4,5:9:99:115,0,105	6	0	1	0	.
chr4	70366897	70366897	C	A	exonic	SMR3A	.	nonsynonymous SNV	SMR3A:NM_012390:exon3:c.C308A:p.P103Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00568138529399	0.0002	.	8.246e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs368646636	2.326e-05	2.326e-05	2.042e-05	2.613e-05	0.0005	1.675e-05	1.478e-05	0.0001	7.544e-05	0	0	0	0	0	0.0005	2.159e-05	3.313e-05	5.797e-05	1.317e-05	1.971e-05	1.287e-05	1.348e-05	2.944e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.944e-05	0	0	0.0	0.91255	D	0.028	0.54934	D	0.738	0.42905	P	0.3	0.41053	B	.	.	.	.	1	0.08975	N	1.78	0.46185	L	1.64	0.27822	T	-3.62	0.69593	D	0.276	0.31253	-1.0481	0.14932	T	0.042	0.17910	T	9	0.08820516	0.15166	T	0.005681	0.14712	T	0.013	0.01715	.	.	0.0666544352282	0.05500	0.11584647257568718	0.11512	0.0577316834944	0.06392	.	.	.	0.035686	0.23816	T	-0.338949	0.05461	T	-0.543126	0.17991	T	0.390166133642197	0.28571	T	0.40366	0.10339	T	0.3227545	0.54871	0.29156962	0.55182	0.3227545	0.54871	0.29156962	0.55181	-4.926	0.36026	T	.	.	0.154	0.33981	B	.	.	1.714939	0.21836	15.37	0.78316792192872065	0.12248	0.05802	0.11739	N	AEFI	0.022976	0.01218	N	-0.695915888496455	0.16137	0.8195536	-0.8447670206558	0.13413	0.6956919	1.81065352628824E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.66	0.851	0.18128	0.121000	0.15496	0.048000	0.13961	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.503000	0.29084	0.2611:0.5893:0.0:0.1496	3.157	0.06117	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	124.44	99	chr4	70366897	.	C	A	124.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.484;DP=745;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=1.24;SOR=0.307	GT:AD:DP:GQ:PL	0/1:6,4:10:99:135,0,188	6	0	1	0	.
chr4	99652687	99652687	G	T	exonic	C4orf54	.	synonymous SNV	C4orf54:NM_001354435:exon2:c.C1962A:p.S654S	.	428	1090	4	0	0	4	0.0018315	.	.	.	2820058	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0	0	0	0.0014	0	0	9.06e-05	14	154602	rs556190189	0.0003	0.0003	0.0003	0.0003	0.0009	0.0003	0.0002	0.0003	0.0003	0	0.0002	0.0007	0	0	0.0009	0.0003	0.0004	2.524e-05	0.0003	0.0003	0.0004	0.0002	0.0005	0.0002	0.0002	0.0003	0.0003	4.828e-05	0	0.0005	0.0006	0	0	0.0032	0.0005	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	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	1	.	.	.	.	.	.	.	.	0.07143	143.44	35	chr4	99652687	.	G	T	143.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.549;DP=251;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=1.19;SOR=0.754	GT:AD:DP:GQ:PL	0/1:5,7:12:88:154,0,88	6	0	1	0	.
chr4	125490298	125490298	T	G	exonic	FAT4	.	nonsynonymous SNV	FAT4:NM_001291285:exon18:c.T13479G:p.S4493R,FAT4:NM_001291303:exon18:c.T13482G:p.S4494R,FAT4:NM_024582:exon18:c.T13476G:p.S4492R	Hennekam lymphangiectasia-lymphedema syndrome 2, Autosomal recessive;Van Maldergem syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.028878451015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.012	0.63918	D	0.435	0.38591	B	0.077	0.34752	B	0.282571	0.14918	U	0.497540	1	0.08975	N	0.89	0.21648	L	-0.81	0.75670	T	-1.02	0.26843	N	0.479	0.55193	-0.9374	0.43025	T	0.177	0.52209	T	10	0.20973596	0.37346	T	0.028878	0.51484	D	0.168	0.42943	0.363	0.36874	0.680691844653	0.67797	0.7484095901153498	0.74786	0.180060473032	0.20253	0.487993270159	0.37161	T	0.06707	0.33106	T	-0.0382556	0.46207	T	-0.292728	0.45487	T	0.130325759492081	0.15412	T	0.734627	0.35069	T	0.06629159	0.14250	0.06609071	0.13489	0.06629159	0.14250	0.06609071	0.13489	-4.621	0.32806	T	.	.	0.147	0.32372	B	.;.	.;.	1.123231	0.15092	11.58	0.9251781910813146	0.21958	0.12059	0.17034	N	AEFBI	0.137504	0.25850	N	-1.12717482834799	0.06164	0.2830062	-1.18170012123932	0.06215	0.2984784	0.00325154288859847	0.10018	0.706548	0.73137	0	0.588015	0.36545	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.17	-0.969	0.09783	-0.143000	0.10278	-4.549000	0.02100	-0.249000	0.07183	0.000000	0.06391	0.000000	0.08366	0.604000	0.31488	0.0:0.6024:0.0:0.3976	10.998	0.46804	884	0.28482	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	65.44	46	chr4	125490298	.	T	G	65.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.524;DP=334;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.524;SOR=1.179	GT:AD:DP:GQ:PL	0/1:2,3:5:34:76,0,34	6	0	1	0	.
chr4	174303894	174303894	G	C	intronic	CEP44	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	66.45	26	chr4	174303894	.	G	C	66.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.524;DP=168;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-1.036;SOR=1.179	GT:AD:DP:GQ:PL	0/1:2,3:5:34:77,0,34	6	0	1	0	.
chr4	186280620	186280620	T	C	intronic	F11	.	.	.	Factor XI deficiency, autosomal dominant;Factor XI deficiency, autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.455e-06	1.318e-05	3.316e-06	1.615e-06	2.227e-06	6.5e-07	1.8e-07	3.7e-07	1.4e-07	0	0	0	0	0	0	2.227e-06	1.909e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	218.07	109	chr4	186280620	.	T	C	218.07	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.54;DP=758;ExcessHet=4.7409;FS=85.606;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=0.38;ReadPosRankSum=1.35;SOR=9.09	GT:AD:DP:GQ:PL	0/1:11,5:16:4:4,0,177	2	0	5	0	.
chr5	840241	840241	C	-	intronic	ZDHHC11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	31.4	37	chr5	840240	.	TC	T	31.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.667;DP=1334;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.92;MQRankSum=-2.132;QD=2.42;ReadPosRankSum=-1.878;SOR=0.551	GT:AD:DP:GQ:PL	0/1:11,2:13:42:42,0,405	6	0	1	0	.
chr5	5461559	5461559	T	C	exonic	ICE1	.	nonsynonymous SNV	ICE1:NM_015325:exon13:c.T2225C:p.V742A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0109912354141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266	0.16251	T	0.531	0.10069	T	0.017	0.17573	B	0.011	0.15521	B	0.770852	0.09549	N	0.892392	1	0.08975	N	.	.	.	2.81	0.10975	T	-0.45	0.14782	N	0.096	0.07673	-0.9395	0.42695	T	0.014	0.05657	T	10	0.0847128	0.14227	T	0.010991	0.28145	T	0.062	0.17934	0.651	0.78858	0.043077524339	0.03247	0.19026260894506358	0.18944	0.132510371965	0.14936	0.323814511299	0.13998	T	0.021413	0.16677	T	-0.297665	0.08882	T	-0.665351	0.07909	T	0.0275262782435809	0.01619	T	0.485951	0.14839	T	0.027933924	0.02056	0.036735874	0.03182	0.027933924	0.02056	0.036735874	0.03181	-2.984	0.10010	T	.	.	0.217	0.44707	B	.	.	1.955360	0.24836	16.54	0.98922304299034935	0.48583	0.01782	0.05581	N	AEFBI	0.019445	0.00675	N	-1.02704974951901	0.08045	0.3758649	-1.00955012271889	0.09574	0.4771235	0.986092906754032	0.31003	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.26	-1.7	0.07721	-0.123000	0.10586	0.149000	0.15269	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.888000	0.42677	0.0:0.3049:0.3516:0.3435	4.399	0.10805	768	0.49510	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	138.44	44	chr5	5461559	.	T	C	138.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.852;DP=408;ExcessHet=0;FS=2.463;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=2.07;SOR=1.206	GT:AD:DP:GQ:PL	0/1:5,6:11:99:149,0,107	6	0	1	0	.
chr5	36163667	36163667	G	A	exonic	SKP2	.	synonymous SNV	SKP2:NM_005983:exon3:c.G303A:p.P101P,SKP2:NM_032637:exon3:c.G303A:p.P101P	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	1.649e-05	0	8.661e-05	0	0	1.499e-05	0	0	1.94e-05	3	154602	rs199638969	6.843e-06	7.525e-06	4.085e-06	9.628e-06	0.0002	3.46e-06	2.52e-06	1.94e-06	1.28e-06	0	2.236e-05	0	0	0	0.0002	5.398e-06	3.313e-05	0	6.569e-06	6.562e-06	1.285e-05	0	6.539e-05	0	0	.	.	0	0	6.539e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.07143	57.44	34	chr5	36163667	.	G	A	57.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.108;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.21;ReadPosRankSum=-1.718;SOR=0.446	GT:AD:DP:GQ:PL	0/1:4,3:7:68:68,0,98	6	0	1	0	.
chr5	51389977	51389977	A	C	intronic	ISL1	.	.	.	.	402	1119	1	0	0	1	0.000446628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	185.44	23	chr5	51389977	.	A	C	185.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.24;DP=194;ExcessHet=0;FS=3.332;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=23.18;ReadPosRankSum=0.619;SOR=2.303	GT:AD:DP:GQ:PL	0/1:2,6:8:25:196,0,25	6	0	1	0	.
chr5	53071919	53071920	TG	-	intronic	ITGA2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.104e-05	0	9.39e-05	0	0	7.888e-05	0	6.462e-05	3.84e-05	1	26028	rs769602532	2.883e-05	0.0004	3.318e-05	2.449e-05	3.636e-05	2.173e-05	1.913e-05	2.702e-05	2.366e-05	3.128e-05	0	0	2.551e-05	0	0	3.636e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	54.4	40	chr5	53071918	.	TTG	T	54.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.645;DP=245;ExcessHet=0;FS=3.979;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=0;SOR=0.061	GT:AD:DP:GQ:PL	0/1:3,2:5:65:65,0,104	6	0	1	0	.
chr5	77437312	77437312	A	T	intronic	WDR41	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.916e-07	1.369e-06	1.378e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	93.44	34	chr5	77437312	.	A	T	93.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.19;DP=211;ExcessHet=0;FS=3.68;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=0;SOR=2.833	GT:AD:DP:GQ:PL	0/1:4,3:7:78:104,0,78	6	0	1	0	.
chr5	79044510	79044510	T	C	exonic	DMGDH	.	nonsynonymous SNV	DMGDH:NM_013391:exon6:c.A788G:p.H263R	Dimethylglycine dehydrogenase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.620	0.0499483824762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.26300	T	0.228	0.25286	T	0.648	0.40583	P	0.172	0.35394	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.175	0.60977	M	-1.44	0.80815	T	-1.42	0.34992	N	0.804	0.79986	-0.1303	0.79394	T	0.367	0.72712	T	10	0.64481616	0.69264	D	0.049948	0.64031	D	0.620	0.85249	0.601	0.73226	0.827341243144	0.82571	0.8269855015519543	0.82656	0.611311684803	0.55774	0.558233141899	0.47018	T	0.028244	0.20504	T	0.334612	0.85475	D	0.24287	0.85283	D	0.968468606472015	0.68253	D	0.921908	0.71628	D	0.86606336	0.88552	0.6559207	0.79854	0.86606336	0.88554	0.6559207	0.79855	-8.651	0.65424	D	0.4151006917709649	0.50477	0.852	0.79850	P	.;.	.;.	3.747857	0.53700	23.4	0.99775390252736462	0.86260	0.99126	0.91608	D	AEFBI	0.956026	0.97429	D	0.228138784264105	0.52565	3.430038	0.367314525288217	0.59556	4.134629	0.999998532021457	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	7.857000	0.85305	7.860000	0.71395	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.569	0.76062	624	0.65661	FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	95.79	45	chr5	79044510	.	T	C	95.79	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.253;DP=388;ExcessHet=0.3476;FS=37.345;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=2;SOR=5.384	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,3:5:49:0|1:79044510_T_C:81,0,49:79044510	4	0	2	1	.
chr5	79044511	79044511	G	A	exonic	DMGDH	.	nonsynonymous SNV	DMGDH:NM_013391:exon6:c.C787T:p.H263Y	Dimethylglycine dehydrogenase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.0145784045067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.341	0.12673	T	0.614	0.07592	T	0.029	0.19866	B	0.006	0.12133	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.485	0.37223	L	-1.46	0.80983	T	0.46	0.03297	N	0.795	0.79118	-0.6303	0.63558	T	0.309	0.67931	T	10	0.5324558	0.63261	D	0.014578	0.34790	T	0.393	0.70844	0.467	0.53891	0.782547463411	0.78053	0.768997685997995	0.76848	0.195931964383	0.21951	0.557169079781	0.46868	T	0.017325	0.14153	T	0.221509	0.75918	D	0.0804058	0.75605	D	0.845702707767487	0.49799	D	0.930507	0.74278	D	0.7260823	0.79502	0.4871424	0.70320	0.7260823	0.79504	0.4871424	0.70320	-2.736	0.07610	T	0.3277913666749117	0.42589	0.213	0.44188	B	.;.	.;.	3.944933	0.57750	23.9	0.99348841113542719	0.60493	0.99470	0.96426	D	AEFBI	0.952969	0.96887	D	0.0628041216277017	0.44734	2.742053	0.2805814258811	0.54406	3.605736	0.999999999489839	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	9.792000	0.98216	11.788000	0.96293	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.355	0.94400	624	0.65661	FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	70.44	43	chr5	79044511	.	G	A	70.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.253;DP=330;ExcessHet=0;FS=3.979;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=-1.036;SOR=2.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,3:5:49:0|1:79044510_T_C:81,0,49:79044510	6	0	1	0	C
chr5	80649307	80649307	T	C	intronic	DHFR	.	.	.	Megaloblastic anemia due to dihydrofolate reductase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	100.44	35	chr5	80649307	.	T	C	100.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PL	0/1:5,5:10:99:111,0,111	6	0	1	0	.
chr5	102961114	102961114	A	G	intronic	PAM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	35.44	33	chr5	102961114	.	A	G	35.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.619;DP=195;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.43;ReadPosRankSum=-0.619;SOR=0.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,2:8:46:0|1:102961114_A_G:46,0,246:102961114	6	0	1	0	.
chr5	112780976	112780976	T	G	intronic	APC	.	.	.	Adenoma, periampullary, somatic (3);Adenomatous polyposis coli, Autosomal dominant;Brain tumor-polyposis syndrome 2, Autosomal dominant;Colorectal cancer, somatic;Desmoid disease, hereditary, Autosomal dominant;Gardner syndrome, Autosomal dominant;Gastric cancer, somatic;Hepatoblastoma, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	178.44	61	chr5	112780976	.	T	G	178.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.38;DP=357;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.83;ReadPosRankSum=1.56;SOR=1.609	GT:AD:DP:GQ:PL	0/1:3,6:9:62:189,0,62	6	0	1	0	.
chr5	112781032	112781032	A	G	intronic	APC	.	.	.	Adenoma, periampullary, somatic (3);Adenomatous polyposis coli, Autosomal dominant;Brain tumor-polyposis syndrome 2, Autosomal dominant;Colorectal cancer, somatic;Desmoid disease, hereditary, Autosomal dominant;Gardner syndrome, Autosomal dominant;Gastric cancer, somatic;Hepatoblastoma, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	95.44	61	chr5	112781032	.	A	G	95.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.751;DP=357;ExcessHet=0;FS=2.808;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=1.12;SOR=1.518	GT:AD:DP:GQ:PL	0/1:5,4:9:99:106,0,114	6	0	1	0	C
chr5	112813667	112813667	C	T	intronic	APC	.	.	.	Adenoma, periampullary, somatic (3);Adenomatous polyposis coli, Autosomal dominant;Brain tumor-polyposis syndrome 2, Autosomal dominant;Colorectal cancer, somatic;Desmoid disease, hereditary, Autosomal dominant;Gardner syndrome, Autosomal dominant;Gastric cancer, somatic;Hepatoblastoma, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs189453555	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.616e-05	5.258e-05	2.578e-05	6.751e-05	0.0004	2.116e-05	1.531e-05	0.0002	0.0001	0	0	0.0004	0	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	154.44	33	chr5	112813667	.	C	T	154.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.534;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.3;ReadPosRankSum=-0.157;SOR=0.595	GT:AD:DP:GQ:PL	0/1:1,7:8:18:165,0,18	6	0	1	0	C
chr5	132889207	132889207	C	T	intronic	AFF4	.	.	.	CHOPS syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs764860171	3.215e-05	3.292e-05	3.688e-05	2.746e-05	7.714e-05	2.407e-05	2.134e-05	2.349e-05	2.01e-05	3.38e-05	7.686e-05	0	7.714e-05	0	0	3.246e-05	5.489e-05	0	1.974e-05	1.971e-05	3.859e-05	0	6.558e-05	5.25e-06	2.46e-06	.	.	2.419e-05	0	6.558e-05	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	127.28	15	chr5	132889207	.	C	T	127.28	.	AC=2;AF=0.143;AN=14;DP=91;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=21.21;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,6:6:18:148,18,0	6	1	0	0	.
chr5	141210596	141210596	C	T	exonic	PCDHB12	.	synonymous SNV	PCDHB12:NM_018932:exon1:c.C1689T:p.Y563Y	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.087e-05	0	8.797e-05	0	0	3.189e-05	0.0012	0.0002	.	.	.	rs782308766	6.99e-05	6.977e-05	7.228e-05	6.75e-05	8.951e-05	5.857e-05	5.467e-05	6.399e-05	5.997e-05	2.994e-05	8.951e-05	0	0	0	0	7.826e-05	4.983e-05	8.126e-05	3.282e-05	3.281e-05	3.853e-05	2.684e-05	1.47e-05	1.26e-05	7.97e-06	.	.	0	0	0	0	0	0	0.0102	1.47e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.001082	0.005319	0.000000	0.000000	0.000000	0.000000	0.000000	0.003876	0.07143	190.44	36	chr5	141210596	.	C	T	190.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.586;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=49.79;MQRankSum=0.473;QD=17.31;ReadPosRankSum=-0.361;SOR=0.33	GT:AD:DP:GQ:PL	0/1:4,7:11:86:201,0,86	6	0	1	0	.
chr5	141400463	141400463	A	G	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.A2336G:p.D779G,PCDHGB5:NM_032099:exon1:c.A2336G:p.D779G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.065e-06	5.274e-05	1.371e-06	2.765e-06	2.718e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.718e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.44302	T	0.009	0.15093	B	0.029	0.21540	B	.	.	.	.	1	0.81001	D	1.51	0.38214	L	.	.	.	.	.	.	0.241	0.34659	.	.	.	.	.	.	.	0.20647642	0.36910	T	.	.	.	.	.	.	.	0.567858160113	0.56450	0.27775437007942005	0.27688	.	.	.	.	.	0.07356	0.34727	T	0.118978	0.66270	D	-0.0668731	0.65849	T	.	.	.	0.475152	0.14192	T	0.18996084	0.40560	0.40470845	0.64891	0.18996084	0.40560	0.40470845	0.64891	-4.16	0.26766	T	.	.	0.089	0.12323	B	.;.	.;.	3.615017	0.51130	23.0	0.70790902653605781	0.09412	0.84947	0.44044	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999600704005591	0.40866	0.090766	0.02384	0	0.097471	0.02872	0	0.129117	0.03641	0	0.023427	0.00073	3	0.343073	0.36021	5.25	5.25	0.73169	2.964000	0.48885	.	.	0.751000	0.87719	1.000000	0.71638	0.999000	0.35428	0.831000	0.39176	0.9146:0.0:0.0854:0.0	9.287	0.36925	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	684.11	39	chr5	141400463	.	A	G	684.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-6.424;DP=1058;ExcessHet=4.7409;FS=235.068;MLEAC=5;MLEAF=0.357;MQ=59.99;MQRankSum=0;QD=0.72;ReadPosRankSum=1.47;SOR=9.773	GT:AD:DP:GQ:PL	0/1:8,3:11:38:38,0,151	2	0	5	0	.
chr5	160407769	160407769	-	T	exonic	SLU7	.	frameshift insertion	SLU7:NM_001364517:exon10:c.1006dupA:p.T336Nfs*16,SLU7:NM_001364518:exon10:c.961dupA:p.T321Nfs*16,SLU7:NM_001364522:exon10:c.991dupA:p.T331Nfs*16,SLU7:NM_006425:exon10:c.961dupA:p.T321Nfs*16,SLU7:NM_001364520:exon11:c.961dupA:p.T321Nfs*16,SLU7:NM_001364521:exon11:c.961dupA:p.T321Nfs*16,SLU7:NM_001364523:exon11:c.991dupA:p.T331Nfs*16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	6.841e-07	0	1.376e-06	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	203.21	34	chr5	160407769	.	G	GT	203.21	.	AC=2;AF=0.143;AN=14;DP=210;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=33.87;SOR=1.329	GT:AD:DP:GQ:PL	1/1:0,6:6:18:224,18,0	6	1	0	0	.
chr5	160634479	160634479	T	G	exonic	ATP10B	.	nonsynonymous SNV	ATP10B:NM_001366658:exon7:c.A1172C:p.N391T,ATP10B:NM_001366654:exon10:c.A1388C:p.N463T,ATP10B:NM_001366652:exon11:c.A1256C:p.N419T,ATP10B:NM_001366653:exon11:c.A1256C:p.N419T,ATP10B:NM_001366655:exon11:c.A1256C:p.N419T,ATP10B:NM_001366656:exon11:c.A1256C:p.N419T,ATP10B:NM_001366657:exon11:c.A1220C:p.N407T,ATP10B:NM_025153:exon12:c.A1256C:p.N419T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.0224923115898	.	.	.	.	.	.	.	.	.	.	.	.	.	rs751401103	1.026e-05	1.026e-05	8.167e-06	1.238e-05	0.0023	6.16e-06	4.89e-06	0.0013	0.0011	0	0	0	0	0	0.0023	0	3.311e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.50132	D	0.023	0.57104	D	0.635	0.40310	P	0.116	0.31939	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.385	0.34509	L	-0.07	0.63738	T	-5.31	0.84457	D	0.378	0.41952	-0.3546	0.73421	T	0.366	0.72613	T	9	0.5299416	0.63125	D	0.022492	0.45384	T	0.332	0.65424	0.433	0.48336	0.821825675267	0.82014	0.8080106135015133	0.80756	0.262087392394	0.28775	0.739262580872	0.72864	T	0.057393	0.30554	T	-0.0179755	0.49142	T	-0.263597	0.48464	T	0.97264963388443	0.69779	D	0.941006	0.77964	D	0.5250443	0.68548	0.45804358	0.68508	0.5250443	0.68549	0.45804358	0.68508	-10.762	0.78337	D	.	.	0.327	0.54982	B	.;.;.	.;.;.	3.683176	0.52433	23.2	0.98524617339420761	0.42508	0.96217	0.68073	D	AEFI	0.854748	0.77179	D	0.503886604515248	0.67318	5.065845	0.506357456936277	0.68416	5.217151	0.774294780563418	0.23726	0.500041	0.20204	0	0.573888	0.26702	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	5.53	5.53	0.82530	6.214000	0.72143	7.803000	0.69204	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:0.0:0.1431:0.8569	12.087	0.53005	858	0.34001	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.07143	126.44	36	chr5	160634479	.	T	G	126.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.25;DP=235;ExcessHet=0;FS=1.987;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.9;ReadPosRankSum=-1.465;SOR=1.329	GT:AD:DP:GQ:PL	0/1:10,6:16:99:137,0,265	6	0	1	0	.
chr5	170042093	170042093	G	A	exonic	DOCK2	.	synonymous SNV	DOCK2:NM_004946:exon38:c.G3837A:p.T1279T	Immunodeficiency 40, Autosomal recessive	423	1098	1	0	0	1	0.000455166	.	.	.	1094207	DOCK2_deficiency	MONDO:MONDO:0014637,MedGen:C4225328,OMIM:616433,Orphanet:447737	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	7.7e-05	0.000199681	8.968e-05	0.0001	0	0	0	3.235e-05	0	0.0005	7.12e-05	11	154602	rs142249400	2.943e-05	2.941e-05	1.634e-05	4.265e-05	0.0003	2.218e-05	1.971e-05	0.0002	0.0002	0	4.476e-05	0	0	0	0.0002	1.439e-05	1.658e-05	0.0003	4.598e-05	4.594e-05	2.57e-05	6.719e-05	0.0004	2.109e-05	1.526e-05	7.307e-05	3.047e-05	0.0001	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	1	.	.	.	.	.	.	.	.	0.07143	63.44	33	chr5	170042093	.	G	A	63.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.524;DP=217;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=1.65;SOR=1.179	GT:AD:DP:GQ:PL	0/1:2,3:5:34:74,0,34	6	0	1	0	.
chr5	176656804	176656804	C	T	exonic	TSPAN17	.	synonymous SNV	TSPAN17:NM_001366492:exon5:c.C537T:p.I179I,TSPAN17:NM_001006616:exon7:c.C735T:p.I245I,TSPAN17:NM_001366491:exon7:c.C735T:p.I245I,TSPAN17:NM_012171:exon7:c.C744T:p.I248I,TSPAN17:NM_130465:exon7:c.C735T:p.I245I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	.	6.593e-05	9.614e-05	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs772417953	1.573e-05	1.573e-05	1.497e-05	1.65e-05	4.637e-05	1.048e-05	8.75e-06	1.583e-05	9.3e-06	2.987e-05	0	0	2.519e-05	0	0	1.529e-05	0	4.637e-05	2.628e-05	2.626e-05	2.569e-05	2.69e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.07143	60.44	40	chr5	176656804	.	C	T	60.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.108;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.63;ReadPosRankSum=-0.328;SOR=1.179	GT:AD:DP:GQ:PL	0/1:4,3:7:71:71,0,105	6	0	1	0	.
chr5	179616989	179616989	G	A	intronic	C5orf60;HNRNPH1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	58.44	33	chr5	179616989	.	G	A	58.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.366;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.35;ReadPosRankSum=-1.981;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:69:0|1:179616981_C_CAA:69,0,204:179616981	6	0	1	0	.
chr5	180851051	180851051	T	C	exonic	ZFP62	.	synonymous SNV	ZFP62:NM_001172638:exon2:c.A444G:p.K148K,ZFP62:NM_001377942:exon2:c.A345G:p.K115K,ZFP62:NM_001377943:exon2:c.A444G:p.K148K,ZFP62:NM_001377944:exon2:c.A444G:p.K148K,ZFP62:NM_001377940:exon3:c.A345G:p.K115K,ZFP62:NM_001377941:exon3:c.A345G:p.K115K,ZFP62:NM_001377945:exon3:c.A345G:p.K115K,ZFP62:NM_152283:exon3:c.A345G:p.K115K,ZFP62:NM_001377939:exon4:c.A345G:p.K115K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1357522642	5.718e-06	5.473e-06	7.052e-06	4.347e-06	3.165e-05	2.46e-06	1.78e-06	2.7e-06	1.74e-06	3.165e-05	0	0	0	0	0	6.489e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.3333	210.26	76	chr5	180851051	.	T	C	210.26	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-4.237;DP=746;ExcessHet=2.5225;FS=188.824;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.44;ReadPosRankSum=2.09;SOR=9.129	GT:AD:DP:GQ:PL	0/1:6,3:9:27:27,0,124	2	0	4	1	.
chr6	17606018	17606018	-	AATTTTTTGAT	intronic	FAM8A1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.242e-06	0.0002	1.471e-06	3.037e-06	2.998e-05	6e-07	1.7e-07	3.2e-07	1.2e-07	0	0	0	2.998e-05	0	0	1.929e-06	0	0	1.45e-05	0.0006	2.827e-05	0	1.616e-05	2.41e-06	9e-07	.	.	0	0	0	0	0	0.0001	0	1.616e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	55.4	33	chr6	17606018	.	G	GAATTTTTTGAT	55.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.24;DP=219;ExcessHet=0;FS=3.332;MLEAC=1;MLEAF=0.071;MQ=56.94;MQRankSum=-2.1;QD=6.92;ReadPosRankSum=-0.921;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,2:8:66:0|1:17606014_G_GAGC:66,0,246:17606014	6	0	1	0	.
chr6	17606020	17606020	C	G	intronic	FAM8A1	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049819780	1.492e-06	0.0002	1.469e-06	1.516e-06	2.965e-05	2.5e-07	9e-08	.	.	0	0	0	2.965e-05	0	0	0	0	1.381e-05	0	0.0005	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	55.44	33	chr6	17606020	.	C	G	55.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.24;DP=219;ExcessHet=0;FS=3.332;MLEAC=1;MLEAF=0.071;MQ=56.94;MQRankSum=-2.1;QD=6.93;ReadPosRankSum=-2.1;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,2:8:66:0|1:17606014_G_GAGC:66,0,246:17606014	6	0	1	0	C
chr6	31576902	31576902	A	G	intronic	TNF	.	.	.	.	2	1519	1	0	0	1	0.000329056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.29e-07	1.37e-06	0	1.455e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.74e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	67.44	34	chr6	31576902	.	A	G	67.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.792;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=1.01;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,4:7:70:78,0,70	6	0	1	0	.
chr6	32522156	32522156	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	13412.6	23	chr6	32522156	.	T	*	13412.6	.	AC=6;AF=0.429;AN=14;DP=399;ExcessHet=0;FS=0;MLEAC=6;MLEAF=0.429;MQ=46.61;QD=33.7;SOR=1.193	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,1:6:27:0|1:32522148_C_T:252,210,207:32522148	1	0	6	0	.
chr6	33781180	33781180	C	A	intronic	LEMD2	.	.	.	Cataract 46, juvenile-onset, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.25e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	42.44	18	chr6	33781180	.	C	A	42.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.319;DP=188;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.06;ReadPosRankSum=0.319;SOR=1.802	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:53:0|1:33781160_G_GA:53,0,174:33781160	6	0	1	0	.
chr6	37353974	37354094	TGCGCAGGCGTAGTGCTCCTGCTTCCTGGCCGAGGGCGGGCGAGCGGAGCCTGCTTTCGCAGCGATCGCGAGCGTGTGGCGATTGCTTCTGTCTGTTATTTAGATATGGAAGCTGAGGGGA	-	UTR5	RNF8	NM_003958:c.-182_-71delins-;NM_183078:c.-182_-71delins-	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	61.42	6	chr6	37353973	.	TTGCGCAGGCGTAGTGCTCCTGCTTCCTGGCCGAGGGCGGGCGAGCGGAGCCTGCTTTCGCAGCGATCGCGAGCGTGTGGCGATTGCTTCTGTCTGTTATTTAGATATGGAAGCTGAGGGGA	T	61.42	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.674;DP=79;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=54.77;MQRankSum=-1.834;QD=10.24;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PL	0/1:4,2:6:72:72,0,162	6	0	1	0	.
chr6	37354003	37354041	CCGAGGGCGGGCGAGCGGAGCCTGCTTTCGCAGCGATCG	0	UTR5	RNF8	NM_003958:c.-162_-124delins0;NM_183078:c.-162_-124delins0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	139.6	25	chr6	37354003	.	CCGAGGGCGGGCGAGCGGAGCCTGCTTTCGCAGCGATCG	*	139.6	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.181;DP=135;ExcessHet=0.3476;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.5;ReadPosRankSum=0.227;SOR=0.752	GT:AD:DP:GQ:PL	0/1:4,2:6:72:72,0,162	6	0	1	0	C
chr6	37354031	37354031	C	0	UTR5	RNF8	NM_003958:c.-134C>0;NM_183078:c.-134C>0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	466.83	25	chr6	37354031	.	C	*	466.83	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.05;DP=185;ExcessHet=1.1394;FS=2.161;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=6.06;ReadPosRankSum=-0.777;SOR=1.082	GT:AD:DP:GQ:PL	0/1:4,2:6:72:72,0,162	5	0	2	0	C
chr6	43433148	43433148	C	G	exonic	ABCC10	.	nonsynonymous SNV	ABCC10:NM_033450:exon1:c.C1039G:p.R347G,ABCC10:NM_001198934:exon3:c.C1168G:p.R390G	.	.	.	.	.	.	.	.	.	.	.	2438659	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.904	0.195967073657	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs528202255	5.473e-06	5.472e-06	2.723e-06	8.251e-06	2.987e-05	2.35e-06	1.7e-06	1.32e-06	9.6e-07	2.987e-05	0	0	0	0	0	4.497e-06	3.312e-05	0	1.971e-05	1.97e-05	1.284e-05	2.689e-05	4.824e-05	5.24e-06	2.45e-06	7.99e-06	2.99e-06	4.824e-05	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.986	0.88582	D	0.000004	0.62929	D	0.061096	1	0.81001	D	3.77	0.95173	H	-2.53	0.89430	D	-6.4	0.91184	D	0.939	0.94550	0.931	0.96119	D	0.847	0.94898	D	10	0.90272355	0.89635	D	0.195967	0.86452	D	0.904	0.97361	0.672	0.81002	0.954082268687	0.95359	0.8315173011152087	0.83110	0.777272365616	0.65101	0.673156261444	0.63287	T	0.602987	0.87303	D	0.427709	0.91416	D	0.392084	0.91851	D	0.989217877388	0.79464	D	0.829717	0.49530	T	0.8346772	0.86230	0.83912015	0.90780	0.8346772	0.86231	0.83912015	0.90780	-10.453	0.78812	D	.	.	0.586	0.68297	P	.;.	.;.	3.669057	0.52162	23.2	0.99883224464875275	0.95892	0.95635	0.65514	D	AEFBI	0.729005	0.67685	D	0.706363834267408	0.80049	7.209071	0.599956574427507	0.74938	6.223	0.999999942641211	0.74766	0.617157	0.39670	1	0.577304	0.33150	0	0.786243	0.99158	0	0.635551	0.53088	0	.	.	5.37	4.48	0.53973	2.728000	0.46990	1.237000	0.25081	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.3031:0.6969:0.0:0.0	13.749	0.62381	500	0.76024	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	276.44	37	chr6	43433148	.	C	G	276.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.693;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.26;ReadPosRankSum=1.76;SOR=0.836	GT:AD:DP:GQ:PL	0/1:4,13:17:48:287,0,48	6	0	1	0	.
chr6	47879663	47879663	C	T	exonic	PTCHD4	.	nonsynonymous SNV	PTCHD4:NM_001013732:exon3:c.G1181A:p.G394D,PTCHD4:NM_001384253:exon5:c.G1172A:p.G391D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.902	0.20782976184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.135	0.59519	M	-2.01	0.85468	D	-6.51	0.91653	D	0.955	0.96416	0.499	0.90534	D	0.729	0.90740	D	10	0.91200733	0.90566	D	0.20783	0.87114	D	0.902	0.97286	0.69	0.82748	0.930885548319	0.93018	0.8829038473598709	0.88258	0.577604299883	0.53677	0.935613512993	0.99274	D	0.661584	0.89851	D	0.424157	0.91233	D	0.371496	0.91125	D	0.995816051959991	0.88121	D	0.928907	0.73860	D	0.94604033	0.95862	0.92165154	0.96514	0.94604033	0.95863	0.92165154	0.96515	-8.032	0.61288	D	.	.	0.992	0.94095	P	.	.	4.794884	0.77846	26.8	0.99740766051118668	0.83482	0.98112	0.79700	D	AEFBI	0.908094	0.86294	D	0.815943854686388	0.87093	9.100482	0.770524736938804	0.87681	9.306754	0.999999971639541	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.01	5.01	0.66477	7.568000	0.81546	7.728000	0.67649	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.332	0.90215	666	0.61362	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	52.44	46	chr6	47879663	.	C	T	52.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.383;DP=792;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.83;ReadPosRankSum=-1.085;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,2:9:63:0|1:47879663_C_T:63,0,288:47879663	6	0	1	0	.
chr6	52506129	52506205	GGCTCAGGCTGGGGGTGGGGAAGACTAGACTTACATTCCCTCCAAGATGCTGCGTGGAGCAGAAGCCATTGCATCTT	-	exonic	TRAM2	.	frameshift deletion	TRAM2:NM_012288:exon8:c.627_634del:p.N209Kfs*14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	62.4	33	chr6	52506128	.	CGGCTCAGGCTGGGGGTGGGGAAGACTAGACTTACATTCCCTCCAAGATGCTGCGTGGAGCAGAAGCCATTGCATCTT	C	62.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.65;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=0.524;SOR=0.223	GT:AD:DP:GQ:PL	0/1:4,2:6:73:73,0,161	6	0	1	0	.
chr6	52506141	52506141	G	0	intronic	TRAM2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	805.63	33	chr6	52506141	.	G	*	805.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.25;DP=214;ExcessHet=0.3476;FS=1.046;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=0.678;SOR=0.895	GT:AD:DP:GQ:PL	0/1:4,2:6:73:73,0,161	6	0	1	0	C
chr6	72097152	72097152	G	T	exonic	RIMS1	.	nonsynonymous SNV	RIMS1:NM_001350412:exon2:c.G368T:p.R123L,RIMS1:NM_001350411:exon3:c.G446T:p.R149L,RIMS1:NM_001350413:exon3:c.G449T:p.R150L,RIMS1:NM_014989:exon3:c.G449T:p.R150L	Cone-rod dystrophy 7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.803	0.1917067265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	2.052e-06	1.362e-06	0	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.998	0.73220	D	0.996	0.84481	D	0.000074	0.52346	D	0.000000	1	0.81001	D	2.23	0.63091	M	-1.07	0.76948	T	-4.18	0.76822	D	0.907	0.93370	0.379	0.88787	D	0.657	0.88076	D	10	0.8702456	0.86287	D	0.191707	0.86200	D	0.803	0.93582	0.597	0.72739	0.946017929153	0.94544	0.4866660581705572	0.48586	1.74582744126	0.90929	0.832928538322	0.87011	D	0.89567	0.97915	D	0.358533	0.87139	D	0.277232	0.86972	D	0.990070521831512	0.80290	D	0.995	0.98400	D	0.47828564	0.65797	0.6994405	0.82294	0.47828564	0.65797	0.6994405	0.82295	-13.427	0.91045	D	.	.	0.978	0.92530	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.020819	0.83447	28.0	0.99859084736911485	0.93729	0.99811	0.99622	D	AEFI	0.929270	0.91477	D	0.967212866433578	0.94643	12.92112	0.926991980407768	0.96645	14.95708	0.999999996948191	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.81	5.81	0.92413	9.834000	0.98333	11.775000	0.95959	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:0.0:1.0:0.0	20.080	0.97771	829	0.39537	.;.;.;.;Zinc finger, FYVE-related|Rab-binding domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	84.44	34	chr6	72097152	.	G	T	84.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.207;DP=232;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.44;ReadPosRankSum=-1.361;SOR=0.569	GT:AD:DP:GQ:PL	0/1:13,6:19:95:95,0,281	6	0	1	0	.
chr6	132684494	132684494	C	T	exonic	VNN1	.	synonymous SNV	VNN1:NM_004666:exon6:c.G1200A:p.L400L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	6.574e-06	6.568e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.07143	70.44	33	chr6	132684494	.	C	T	70.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-1.834;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,4:6:31:81,0,31	6	0	1	0	.
chr6	143433975	143433975	G	-	exonic	ADAT2	.	frameshift deletion	ADAT2:NM_001286259:exon3:c.67delC:p.R23Dfs*47,ADAT2:NM_182503:exon3:c.208delC:p.R70Dfs*47	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	43.4	40	chr6	143433974	.	CG	C	43.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.812;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.82;ReadPosRankSum=-2.2;SOR=0.495	GT:AD:DP:GQ:PL	0/1:7,2:9:54:54,0,256	6	0	1	0	.
chr6	152321836	152321836	T	-	exonic	SYNE1	.	frameshift deletion	SYNE1:NM_033071:exon82:c.15755delA:p.K5252Rfs*13,SYNE1:NM_182961:exon83:c.15968delA:p.K5323Rfs*13	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	49.4	34	chr6	152321835	.	CT	C	49.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.645;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=-1.645;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,2:5:60:60,0,97	6	0	1	0	.
chr7	44113646	44113646	A	C	exonic	AEBP1	.	synonymous SNV	AEBP1:NM_001129:exon21:c.A2862C:p.T954T	.	428	1093	1	0	0	1	0.000457247	.	.	.	3063745	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1028018749	6.842e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	1.315e-05	1.314e-05	1.286e-05	1.346e-05	4.834e-05	2.19e-06	8.2e-07	8.01e-06	3e-06	4.834e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	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	1	.	.	.	.	.	.	.	.	0.07143	42.44	39	chr7	44113646	.	A	C	42.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.842;DP=213;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.49;ReadPosRankSum=-1.036;SOR=1.609	GT:AD:DP:GQ:PL	0/1:3,2:5:53:53,0,60	6	0	1	0	.
chr7	73304107	73304107	G	A	intronic	NSUN5	.	.	.	.	416	1103	3	0	0	3	0.00135808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs757113708	8.606e-05	8.689e-05	5.829e-05	0.0001	0.0014	7.368e-05	6.904e-05	0.0007	0.0005	0	2.341e-05	0	0	0	0.0014	4.956e-05	6.796e-05	0.0007	3.283e-05	3.281e-05	0	6.712e-05	0.0006	1.26e-05	7.97e-06	0.0002	8.992e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	120.55	36	chr7	73304107	.	G	A	120.55	.	AC=2;AF=0.143;AN=14;DP=224;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=24.11;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,5:5:15:141,15,0	6	1	0	0	.
chr7	74065720	74065720	G	A	exonic	ELN	.	nonsynonymous SNV	ELN:NM_001278913:exon26:c.G1777A:p.A593T,ELN:NM_001278918:exon26:c.G1753A:p.A585T,ELN:NM_001278916:exon27:c.G1876A:p.A626T,ELN:NM_001081752:exon28:c.G1933A:p.A645T,ELN:NM_001278914:exon28:c.G1948A:p.A650T,ELN:NM_001081753:exon29:c.G1978A:p.A660T,ELN:NM_001081755:exon29:c.G1963A:p.A655T,ELN:NM_001278917:exon29:c.G1990A:p.A664T,ELN:NM_000501:exon30:c.G2020A:p.A674T,ELN:NM_001081754:exon30:c.G2035A:p.A679T,ELN:NM_001278912:exon30:c.G2020A:p.A674T,ELN:NM_001278915:exon30:c.G2038A:p.A680T,ELN:NM_001278939:exon31:c.G2206A:p.A736T	Cutis laxa, AD, Autosomal dominant;Supravalvar aortic stenosis, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	1007613	Supravalvar_aortic_stenosis|ELN-related_disorder	Human_Phenotype_Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500,Orphanet:3193|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.127	0.388863386305	.	.	4.121e-05	0	0	0	0	7.498e-05	0	0	3.23e-05	5	154602	rs782535492	3.352e-05	3.352e-05	3.131e-05	3.575e-05	0.0024	2.566e-05	2.312e-05	0.0015	0.0012	0	0	0	0	0	0.0024	2.788e-05	6.623e-05	0	2.631e-05	2.627e-05	0	5.386e-05	2.941e-05	8.15e-06	5.15e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0.0034	2.941e-05	0.0005	0	0.0	0.91255	D	0.039	0.62352	D	0.996	0.68779	D	0.99	0.78936	D	.	.	.	.	0.601481	0.34033	D	1.845	0.48678	L	1.22	0.47815	T	-1.26	0.36787	N	0.305	0.59816	-0.6417	0.63073	T	0.224	0.58869	T	8	0.29724443	0.47286	T	0.388863	0.93142	D	0.127	0.34888	0.21	0.12781	0.710848232195	0.70832	0.42078190391326803	0.41994	0.176122680716	0.19825	0.700938165188	0.67278	T	0.123085	0.69911	T	-0.0255269	0.48061	T	-0.166787	0.57738	T	0.671100080013275	0.39387	D	0.478452	0.14445	T	0.09440112	0.22193	0.3509199	0.60694	0.09440112	0.22193	0.3509199	0.60693	-11.485	0.84881	D	.	.	0.562	0.70040	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.500295	0.70384	25.5	0.98267278045501005	0.39722	0.81205	0.40658	D	AEFDBHCI	0.589600	0.58642	D	0.270334993267994	0.54652	3.630231	0.175956416161535	0.48533	3.067967	0.988253700005989	0.31455	0.0	0.00013	3	0.547309	0.14657	0	0.584781	0.30282	0	0.613276	0.41899	0	.	.	3.43	3.43	0.38372	4.704000	0.61519	10.954000	0.84418	0.612000	0.49041	1.000000	0.71638	1.000000	0.68203	0.511000	0.29267	0.0:0.0:1.0:0.0	10.708	0.45166	900	0.24599	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	169.44	42	chr7	74065720	.	G	A	169.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.07;DP=242;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=-0.263;SOR=0.446	GT:AD:DP:GQ:PL	0/1:5,6:11:94:180,0,94	6	0	1	0	.
chr7	98856069	98856069	C	T	exonic	TMEM130	.	synonymous SNV	TMEM130:NM_001134451:exon3:c.G360A:p.T120T,TMEM130:NM_001134450:exon4:c.G666A:p.T222T,TMEM130:NM_152913:exon4:c.G666A:p.T222T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	7.443e-05	9.647e-05	0	0.0003	0	4.511e-05	0	0.0001	6.47e-05	10	154602	rs201576403	2.942e-05	3.078e-05	3.132e-05	2.751e-05	8.961e-05	2.217e-05	1.97e-05	2.374e-05	1.43e-05	8.961e-05	2.236e-05	0.0001	7.557e-05	1.883e-05	0	9.892e-06	0.0003	5.797e-05	4.597e-05	4.593e-05	3.855e-05	5.373e-05	0.0004	2.108e-05	1.526e-05	6.837e-05	2.861e-05	7.22e-05	0	6.541e-05	0.0003	0.0004	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.07143	104.44	33	chr7	98856069	.	C	T	104.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.282;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.41;ReadPosRankSum=1.28;SOR=0.368	GT:AD:DP:GQ:PL	0/1:2,4:6:67:115,0,67	6	0	1	0	.
chr7	100678360	100678360	C	T	intronic	GNB2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs74851555	7.597e-06	7.53e-06	5.501e-06	9.712e-06	6.715e-05	4.08e-06	2.98e-06	1.781e-05	8.94e-06	0	6.715e-05	0	0	0	0	7.268e-06	0	0	6.579e-06	6.575e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	60.44	33	chr7	100678360	.	C	T	60.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=1.04;SOR=0.693	GT:AD:DP:GQ:PL	0/1:3,3:6:71:71,0,71	6	0	1	0	.
chr7	100953625	100953625	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1846T:p.P616S	.	801	715	5	1	0	7	0.00487126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1403432548	0	3.499e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.119e-05	0.0001	0	2.267e-05	0.0003	0	0	.	.	0	0	0	0	0.0003	0	0	0	0	0	.	.	.	0.582	0.08476	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.06587	.	.	.	.	.	.	.	0.06737754	0.09379	T	.	.	.	.	.	.	.	.	.	0.0709963202969652	0.07036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387861	0.09571	T	.	.	.	.	.	.	.	.	-5.552	0.42351	T	.	.	0.144	0.31683	B	.;.	.;.	0.772324	0.11424	8.032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.624000	0.02141	-6.914000	0.01275	-0.325000	0.05822	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	41.23	560	chr7	100953625	.	C	T	41.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.343;DP=5330;ExcessHet=0;FS=2.02;MLEAC=1;MLEAF=0.083;MQ=54.99;MQRankSum=0.653;QD=0.96;ReadPosRankSum=-0.46;SOR=1.238	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,4:43:51:0|1:100953507_C_G:51,0,1626:100953507	5	0	1	1	.
chr7	100991093	100991093	C	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C530A:p.T177K	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.0184006155568	0.0004	.	0.0006	0	0	0	0	0.0012	0.0042	0.0001	9.06e-05	14	154602	rs374128187	0.0003	0.0002	0.0003	0.0003	0.0054	0.0002	0.0002	0.0039	0.0034	6.332e-05	0.0005	0.0045	0	0	0.0054	0.0001	0.0005	0.0002	0.0002	0.0002	0.0002	0.0003	0.0006	0.0002	0.0002	0.0003	0.0002	2.414e-05	0	0.0005	0.0040	0	0	0	0.0002	0	0.0006	0.003	0.68238	D	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.7	0.43825	L	2.74	0.11730	T	-0.79	0.21860	N	0.185	0.20925	-0.9544	0.40203	T	0.015	0.06282	T	7	0.0064397156	0.00146	T	0.018401	0.40451	T	0.014	0.01968	.	.	0.0401082797425	0.02173	0.023725647061661984	0.02324	.	.	0.53535681963	0.43789	T	0.004359	0.03768	T	-0.516828	0.00459	T	-0.650163	0.08942	T	0.0221020980214668	0.00921	T	0.294071	0.05417	T	0.07170903	0.15896	0.10393348	0.24949	0.07170903	0.15895	0.10393348	0.24948	-9.049	0.68248	D	.	.	0.410	0.60155	A	.;.	.;.	0.366393	0.07391	4.013	0.86754503308675435	0.16750	0.00228	0.01279	N	AEFDBI	0.036155	0.04771	N	-0.94857703009039	0.09725	0.4615139	-1.11191533093776	0.07471	0.3635628	1.23114870679214E-5	0.02871	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.713	0.713	0.17330	-1.444000	0.02510	-4.692000	0.02031	0.415000	0.20742	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	1.0E-4:0.5827:0.4172:0.0	4.574	0.11617	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007874	0.005319	0.006667	0.014925	0.000000	0.000000	0.011364	0.000000	0.07143	100.44	33	chr7	100991093	.	C	A	100.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.403;DP=226;ExcessHet=0;FS=2.141;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.78;ReadPosRankSum=1.12;SOR=0.781	GT:AD:DP:GQ:PL	0/1:16,5:21:99:111,0,437	6	0	1	0	.
chr7	100991541	100991541	T	C	exonic	MUC12	.	synonymous SNV	MUC12:NM_001164462:exon2:c.T978C:p.H326H	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000199681	0.0004	0	0	0	0	0.0006	0	0.0004	0.0001153	3	26028	rs370655474	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0002	0.0002	0.0002	0.0003	5.604e-05	0.0010	0	0	0.0007	0.0002	0.0003	0.0001	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	4.822e-05	0	0.0001	0.0009	0	0	0	0.0003	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.07143	401.44	184	chr7	100991541	.	T	C	401.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.901;DP=1534;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.12;ReadPosRankSum=-1.122;SOR=1.061	GT:AD:DP:GQ:PL	0/1:4,17:21:66:412,0,66	6	0	1	0	C
chr7	102934282	102934282	G	C	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.G369C:p.E123D,LRRC17:NM_005824:exon2:c.G369C:p.E123D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.00550950631605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.541	0.10678	T	0.0	0.02946	B	0.002	0.06944	B	0.004721	0.33446	N	0.207615	1	0.81001	D	-0.18	0.04256	N	0.26	0.59314	T	2.97	0.00304	N	0.088	0.06587	-0.9900	0.32601	T	0.059	0.24871	T	10	0.0402624	0.02580	T	0.00551	0.14197	T	0.102	0.29158	0.593	0.72247	0.630674063255	0.62765	0.32803734693529624	0.32716	0.23164822142	0.25718	0.39575278759	0.24477	T	0.001762	0.01186	T	-0.263963	0.12439	T	-0.616941	0.11426	T	0.0953304618597031	0.11836	T	0.758424	0.38228	T	0.07261241	0.16165	0.063943654	0.12744	0.07261241	0.16165	0.063943654	0.12743	-1.533	0.03110	T	.	.	0.084	0.33156	B	.;.	.;.	1.403225	0.18178	13.59	0.79853046318071419	0.12930	0.67709	0.33531	D	AEFDBIJ	0.199371	0.32618	N	-0.6476857485773	0.17528	0.9027043	-0.402716744649766	0.24916	1.367225	0.999999761740133	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.338622	0.05889	2	0.613276	0.41899	0	.	.	5.52	3.61	0.40494	0.038000	0.13749	0.020000	0.13575	0.676000	0.76740	0.830000	0.30133	0.455000	0.24973	0.993000	0.69303	0.1452:0.1381:0.7166:0.0	7.418	0.26231	455	0.79073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	412.11	59	chr7	102934282	.	G	C	412.11	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.405;DP=373;ExcessHet=2.5225;FS=246.061;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=1.64;ReadPosRankSum=1.36;SOR=7.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:23:0|1:102934282_G_C:23,0,94:102934282	3	0	4	0	.
chr7	102934283	102934283	G	C	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.G370C:p.A124P,LRRC17:NM_005824:exon2:c.G370C:p.A124P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.686	0.102285869568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.642e-05	1.362e-06	1.376e-06	8.996e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000018	0.62929	D	0.000000	1	0.81001	D	2.48	0.72069	M	0.09	0.61443	T	-4.69	0.79743	D	0.866	0.91621	-0.0790	0.80575	T	0.414	0.76122	T	10	0.83823025	0.82978	D	0.102286	0.77566	D	0.686	0.88538	0.608	0.74063	0.884098710478	0.88296	0.8411723386298476	0.84077	1.02869255285	0.75355	0.595906376839	0.52327	T	0.053493	0.29459	T	0.351657	0.86616	D	0.267354	0.86441	D	0.998028337955475	0.93033	D	0.90001	0.65919	D	0.958163	0.97095	0.93957394	0.97739	0.958163	0.97095	0.93957394	0.97740	-8.842	0.66674	D	.	.	0.973	0.90137	P	.;.	.;.	4.615823	0.73244	26.0	0.99771405677723168	0.85918	0.99139	0.91801	D	AEFDBIJ	0.974099	0.99537	D	0.77679732466033	0.84635	8.343356	0.724224124696295	0.84219	8.231214	0.999999999999933	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.338622	0.05889	2	0.613276	0.41899	0	.	.	5.52	4.65	0.57626	8.066000	0.89276	4.610000	0.44033	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0697:0.0:0.9303:0.0	14.775	0.69347	455	0.79073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	459.12	61	chr7	102934283	.	G	C	459.12	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.418;DP=470;ExcessHet=2.5225;FS=339.92;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=1.79;ReadPosRankSum=0.875;SOR=8.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:23:0|1:102934282_G_C:23,0,94:102934282	3	0	4	0	C
chr7	122011553	122011553	A	C	exonic	PTPRZ1	.	nonsynonymous SNV	PTPRZ1:NM_001369395:exon12:c.A2507C:p.H836P,PTPRZ1:NM_002851:exon12:c.A2507C:p.H836P,PTPRZ1:NM_001369396:exon13:c.A2465C:p.H822P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.017185879556	.	.	8.237e-06	9.61e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs759142145	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	3.288e-05	3.284e-05	2.571e-05	4.039e-05	0.0001	1.262e-05	7.99e-06	4.743e-05	3.056e-05	0.0001	0	0	0	0	0	0	0	0	0	0.007	0.59928	D	0.179	0.29540	T	0.681	0.41422	P	0.255	0.39216	B	0.002875	0.35804	N	0.246847	1	0.81001	D	2.2	0.62015	M	0.96	0.42888	T	-1.69	0.40274	N	0.331	0.37197	-1.0145	0.25497	T	0.099	0.36983	T	10	0.21593317	0.38160	T	0.017186	0.38787	T	0.112	0.31546	.	.	0.0675242888579	0.06100	0.6154367429873003	0.61475	0.246799882432	0.27215	0.35907971859	0.19251	T	0.172261	0.52068	T	-0.229864	0.16668	T	-0.331291	0.41326	T	0.266950820621968	0.23616	T	0.79582	0.43907	T	0.25157395	0.48166	0.25669396	0.51374	0.25157395	0.48166	0.25669396	0.51373	-1.003	0.01003	T	.	.	0.072	0.04080	B	.	.	2.537406	0.32816	19.16	0.97211094107690443	0.32856	0.93539	0.58493	D	AEFGBI	0.742775	0.68629	D	0.189809733184538	0.50711	3.258459	0.274398083827816	0.54050	3.571147	0.108336519648295	0.16580	0.67177	0.52595	0	0.548873	0.16688	0	0.702456	0.68683	0	0.530356	0.10902	0	.	.	5.8	4.62	0.56946	3.945000	0.56346	3.317000	0.37513	0.756000	0.94297	1.000000	0.71638	0.999000	0.35428	0.998000	0.85391	0.8652:0.1348:0.0:0.0	13.029	0.58239	741	0.52966	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	135.44	33	chr7	122011553	.	A	C	135.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.556;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=0.944;SOR=0.307	GT:AD:DP:GQ:PL	0/1:6,6:12:99:146,0,173	6	0	1	0	.
chr7	128877715	128877715	G	A	exonic	KCP	.	nonsynonymous SNV	KCP:NM_001366122:exon39:c.C4387T:p.R1463C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.256e-05	0	0	0	0	0.0001	0	0	6.5e-06	1	154602	rs748855812	3.146e-05	3.01e-05	2.821e-05	3.479e-05	0.0002	2.384e-05	2.124e-05	2.53e-05	2.209e-05	3.165e-05	5.602e-05	0	0	0	0.0002	3.429e-05	5.173e-05	0	6.57e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.31925	.	.	.	.	.	.	.	0.19633302	0.35520	T	.	.	.	.	.	.	.	0.317084106153	0.31322	0.4631062419059024	0.46229	.	.	0.502265095711	0.39144	T	0.029955	0.21344	T	0.0707067	0.60936	D	-0.0309255	0.68308	D	.	.	.	0.915608	0.69895	D	0.22327992	0.44945	0.22238533	0.47081	0.22327992	0.44945	0.22238533	0.47080	-12.602	0.87659	D	.	.	0.468	0.63076	A	.;.;.	.;.;.	4.644930	0.73984	26.1	0.79751537874615197	0.12884	0.92268	0.55322	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999741417105405	0.42466	0.185449	0.04010	2	0.356841	0.05899	0	0.129117	0.03641	0	0.058706	0.01089	0	0.438292	0.38361	5.67	3.75	0.42236	1.061000	0.30152	7.457000	0.59017	0.672000	0.70159	0.866000	0.30720	1.000000	0.68203	0.659000	0.32940	0.0829:0.0:0.7614:0.1558	8.279	0.31047	571	0.70397	von Willebrand factor, type D domain;von Willebrand factor, type D domain;von Willebrand factor, type D domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	55.44	33	chr7	128877715	.	G	A	55.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.431;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.24;ReadPosRankSum=-1.834;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,4:6:32:66,0,32	6	0	1	0	.
chr7	131504389	131504389	C	G	exonic	PODXL	.	nonsynonymous SNV	PODXL:NM_005397:exon8:c.G1503C:p.E501D,PODXL:NM_001018111:exon9:c.G1599C:p.E533D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.0473608544409	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1431079322	6.84e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.36709	T	0.0	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.999985	0.54805	D	2.735	0.79925	M	1.53	0.30401	T	-1.75	0.42001	N	0.705	0.72925	-0.8025	0.54997	T	0.184	0.53331	T	10	0.81317866	0.80582	D	0.047361	0.62888	D	0.239	0.54358	0.728	0.86198	0.528210255337	0.52467	0.1387939184798276	0.13802	0.817353175767	0.66999	0.642235636711	0.58882	T	0.241639	0.61021	T	-0.239911	0.15361	T	-0.485538	0.23860	T	0.877944928774436	0.52786	D	0.818018	0.47523	T	0.3303244	0.55497	0.24105364	0.49494	0.3303244	0.55497	0.24105364	0.49493	-8.004	0.61886	D	.	.	0.692	0.73930	P	.;.	.;.	3.913270	0.57078	23.8	0.99897937894187783	0.97048	0.93110	0.57353	D	AEFDBHCI	0.647334	0.62255	D	0.729859089717941	0.81589	7.557987	0.710599691704944	0.83182	7.955477	0.999999721665391	0.74766	0.67177	0.52595	0	0.759151	0.99529	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.66	5.66	0.87293	3.795000	0.55203	0.594000	0.19852	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.852000	0.40310	0.1543:0.8457:0.0:0.0	13.669	0.61892	951	0.11083	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	66.44	33	chr7	131504389	.	C	G	66.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.674;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-0.524;SOR=0.223	GT:AD:DP:GQ:PL	0/1:2,3:5:69:77,0,69	6	0	1	0	.
chr7	137412219	137412219	A	G	intronic	DGKI	.	.	.	.	.	.	.	.	.	.	.	0.2672	0.432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	49.44	33	chr7	137412219	.	A	G	49.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.967;DP=219;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.49;ReadPosRankSum=0.366;SOR=1.179	GT:AD:DP:GQ:PL	0/1:6,3:9:60:60,0,121	6	0	1	0	.
chr7	139953439	139953439	C	T	exonic	TBXAS1	.	synonymous SNV	TBXAS1:NM_001366537:exon5:c.C339T:p.D113D,TBXAS1:NM_001061:exon6:c.C522T:p.D174D,TBXAS1:NM_001314028:exon6:c.C465T:p.D155D,TBXAS1:NM_030984:exon6:c.C522T:p.D174D,TBXAS1:NM_001166253:exon7:c.C660T:p.D220D,TBXAS1:NM_001166254:exon8:c.C321T:p.D107D,TBXAS1:NM_001130966:exon10:c.C522T:p.D174D	Ghosal hematodiaphyseal syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3053750	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.000199681	2.474e-05	9.645e-05	0	0.0002	0	0	0	0	2.59e-05	4	154602	rs201279773	2.599e-05	2.599e-05	2.314e-05	2.888e-05	0.0003	1.932e-05	1.692e-05	0.0001	0.0001	0.0001	2.236e-05	0	0.0003	0	0	1.529e-05	6.623e-05	1.159e-05	5.908e-05	5.905e-05	3.853e-05	8.057e-05	0.0006	3.075e-05	2.208e-05	0.0002	8.375e-05	0.0001	0	0	0	0.0006	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	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	1	.	.	.	.	.	.	.	.	0.07143	184.44	35	chr7	139953439	.	C	T	184.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.489;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=23.06;ReadPosRankSum=-1.534;SOR=0.33	GT:AD:DP:GQ:PL	0/1:1,7:8:16:195,0,16	6	0	1	0	.
chr7	142093546	142093546	T	C	exonic	MGAM	.	nonsynonymous SNV	MGAM:NM_001365693:exon60:c.T7168C:p.Y2390H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.0112410096422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.14912	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.654	0.66443	-1.0320	0.19809	T	0.091	0.34737	T	5	0.6287559	0.68394	D	0.011241	0.28661	T	0.104	0.29647	.	.	0.533904276971	0.53040	.	.	.	.	.	.	.	.	.	.	0.106945	0.65033	D	-0.0841567	0.64598	T	0.709400296211243	0.41171	D	0.654235	0.26451	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.47316	B	.	.	3.047894	0.40890	21.3	0.96558532447621426	0.30251	0.92037	0.54805	D	AEFBI	0.612280	0.60041	D	0.204840794140855	0.51433	3.324618	0.274113024027221	0.54031	3.569558	0.143861845610114	0.17322	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.95	4.95	0.64894	4.949000	0.63298	.	.	0.641000	0.52212	1.000000	0.71638	1.000000	0.68203	0.677000	0.33454	0.0:0.0:0.0:1.0	13.881	0.63183	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	213.44	35	chr7	142093546	.	T	C	213.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.114;DP=308;ExcessHet=0;FS=2.059;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=1.28;SOR=1.402	GT:AD:DP:GQ:PL	0/1:6,9:15:99:224,0,134	6	0	1	0	.
chr7	143027070	143027070	T	A	exonic	OR9A2	.	synonymous SNV	OR9A2:NM_001001658:exon1:c.A63T:p.G21G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.07143	64.44	34	chr7	143027070	.	T	A	64.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=205;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:75:0|1:143027070_T_A:75,0,120:143027070	6	0	1	0	.
chr7	143027071	143027071	C	T	exonic	OR9A2	.	nonsynonymous SNV	OR9A2:NM_001001658:exon1:c.G62A:p.G21E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.000526751440438	.	.	8.414e-06	0	0	0	0	1.514e-05	0	0	6.5e-06	1	154602	rs767279009	6.844e-07	6.84e-07	0	1.376e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	6.582e-06	6.57e-06	1.287e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.976630	0.08122	N	0.981208	1	0.08975	N	-1.16	0.00885	N	7.46	0.00389	T	2.94	0.00149	N	0.052	0.02366	-1.0297	0.20551	T	0.000	0.00152	T	10	0.052545995	0.05306	T	5.27E-4	0.00185	T	0.022	0.04323	0.308	0.27967	0.20549828249	0.20151	0.09273523398764016	0.09205	0.29252553356	0.31669	0.179946690798	0.00093	T	0.002532	0.01924	T	-0.390525	0.02669	T	-0.798738	0.01934	T	0.0376326387726559	0.03267	T	0.188181	0.01975	T	0.04355794	0.06808	0.05617035	0.09989	0.04355794	0.06808	0.05617035	0.09988	-1.334	0.01457	T	.	.	0.072	0.04277	B	.	.	-0.273077	0.02738	0.364	0.3028240062562208	0.01648	0.00145	0.00883	N	AEFBI	0.019006	0.00622	N	-1.52191352228829	0.01706	0.0746667	-1.44070822059669	0.02855	0.1321229	0.914945735039633	0.26468	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.31	1.68	0.23219	0.980000	0.29111	0.151000	0.15292	-0.167000	0.11441	0.001000	0.13787	0.000000	0.08366	0.016000	0.10718	0.0:0.1989:0.0:0.8011	7.130	0.24673	851	0.35303	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	64.44	34	chr7	143027071	.	C	T	64.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=203;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:75:0|1:143027070_T_A:75,0,120:143027070	6	0	1	0	C
chr7	150950076	150950078	CCA	-	exonic	KCNH2	.	nonframeshift deletion	KCNH2:NM_001204798:exon5:c.1468_1470del:p.W490del,KCNH2:NM_172056:exon9:c.2488_2490del:p.W830del	Long QT syndrome 2, Autosomal dominant;Short QT syndrome 1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	61.4	35	chr7	150950075	.	TCCA	T	61.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=217;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=-0.431;SOR=0.693	GT:AD:DP:GQ:PL	0/1:4,2:6:72:72,0,162	6	0	1	0	.
chr8	22138827	22138827	C	T	intronic	REEP4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	3.471e-05	0	0	0	0	6.21e-05	0	0	2.59e-05	4	154602	rs368181532	1.9e-05	2.394e-05	1.954e-05	1.845e-05	0.0002	1.301e-05	1.115e-05	1.399e-05	1.168e-05	3.19e-05	0	4.23e-05	0	0	0.0002	2.1e-05	1.71e-05	0	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	89.44	35	chr8	22138827	.	C	T	89.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.19;DP=213;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=-1.718;SOR=1.179	GT:AD:DP:GQ:PL	0/1:4,3:7:78:100,0,78	6	0	1	0	.
chr8	40767577	40767577	C	G	intronic	ZMAT4	.	.	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs192106567	5.618e-05	5.685e-05	6.734e-05	4.499e-05	0.0021	4.528e-05	4.153e-05	0.0017	0.0015	0.0021	0	0	0	0	0	1.054e-06	0.0002	0	0.0007	0.0007	0.0009	0.0006	0.0025	0.0006	0.0006	0.0022	0.0020	0.0025	0	0.0003	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	127.25	34	chr8	40767577	.	C	G	127.25	.	AC=2;AF=0.143;AN=14;DP=212;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=21.21;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,6:6:18:148,18,0	6	1	0	0	.
chr8	123128352	123128352	C	A	exonic	TBC1D31	.	synonymous SNV	TBC1D31:NM_001363156:exon12:c.C456A:p.T152T,TBC1D31:NM_001330606:exon13:c.C1641A:p.T547T,TBC1D31:NM_001363152:exon13:c.C1641A:p.T547T,TBC1D31:NM_001363154:exon13:c.C1641A:p.T547T,TBC1D31:NM_001363155:exon13:c.C1641A:p.T547T,TBC1D31:NM_001145088:exon14:c.C1956A:p.T652T,TBC1D31:NM_001363148:exon14:c.C1956A:p.T652T,TBC1D31:NM_001363149:exon14:c.C1926A:p.T642T,TBC1D31:NM_001363150:exon14:c.C1956A:p.T652T,TBC1D31:NM_001363151:exon14:c.C1956A:p.T652T,TBC1D31:NM_145647:exon14:c.C1956A:p.T652T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.414e-05	0	0	0	0	0	0	0.0005	6.47e-05	10	154602	rs748238254	2.874e-05	2.941e-05	1.634e-05	4.127e-05	0.0005	2.152e-05	1.908e-05	0.0003	0.0003	0	0	0	0	0	0	0	3.313e-05	0.0005	3.949e-05	4.599e-05	0	8.087e-05	0.0010	1.718e-05	1.131e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.471e-05	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.07143	105.44	34	chr8	123128352	.	C	A	105.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.703;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=1.03;SOR=0.582	GT:AD:DP:GQ:PL	0/1:3,5:8:67:116,0,67	6	0	1	0	.
chr8	125076327	125076327	A	-	intronic	WASHC5	.	.	.	Ritscher-Schinzel syndrome 1, Autosomal recessive;Spastic paraplegia 8, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.852e-07	6.841e-06	1.364e-06	0	9.009e-07	0	0	.	.	0	0	0	0	0	0	9.009e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	33.4	34	chr8	125076326	.	GA	G	33.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.834;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.57;ReadPosRankSum=0.842;SOR=0.223	GT:AD:DP:GQ:PL	0/1:4,2:6:44:44,0,106	6	0	1	0	.
chr8	134602623	134602623	C	T	exonic	ZFAT	.	nonsynonymous SNV	ZFAT:NM_001174157:exon5:c.G910A:p.V304I,ZFAT:NM_001167583:exon6:c.G1060A:p.V354I,ZFAT:NM_001174158:exon6:c.G1060A:p.V354I,ZFAT:NM_020863:exon6:c.G1096A:p.V366I,ZFAT:NM_001029939:exon7:c.G1060A:p.V354I,ZFAT:NM_001289394:exon7:c.G1060A:p.V354I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.0189823997944	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1438595068	7.525e-06	8.209e-06	2.723e-06	1.238e-05	0.0002	4.04e-06	2.95e-06	3.09e-06	2.24e-06	0	0	0	0	0	0.0002	7.194e-06	1.656e-05	1.159e-05	6.569e-06	6.567e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.061	0.46910	T	0.275	0.25362	T	1.0	0.90584	D	0.99	0.78936	D	0.000001	0.84330	D	0.000000	1	0.81001	D	2.44	0.70756	M	2.99	0.09822	T	-0.56	0.17417	N	0.496	0.53445	-1.1028	0.03768	T	0.053	0.22462	T	10	0.36673957	0.53160	T	0.018982	0.41214	T	0.152	0.39956	0.336	0.32491	0.391930172978	0.38808	0.26717185339367727	0.26630	0.799136364055	0.66162	0.751927554607	0.74731	T	0.011943	0.33059	T	-0.201466	0.20594	T	-0.430314	0.29901	T	0.857394754886627	0.50815	D	0.940006	0.77317	D	0.14438641	0.33145	0.11376272	0.27457	0.14438641	0.33144	0.11376272	0.27456	-7.139	0.55568	T	.	.	0.107	0.26607	B	.;.;.;.;.;.	.;.;.;.;.;.	4.766402	0.77107	26.6	0.99891649564628471	0.96589	0.95911	0.66686	D	AEFDGBCI	0.883201	0.81191	D	0.618710291423407	0.74359	6.119259	0.673645280751791	0.80381	7.286544	1.0	0.98316	0.638212	0.43195	0	0.623108	0.53289	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.74	5.74	0.90070	7.905000	0.86479	5.937000	0.51416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.869000	0.41347	0.0:1.0:0.0:0.0	18.922	0.92500	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	65.44	37	chr8	134602623	.	C	T	65.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.524;DP=478;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.524;SOR=1.179	GT:AD:DP:GQ:PL	0/1:2,3:5:34:76,0,34	6	0	1	0	.
chr8	143562047	143562047	G	-	exonic	GSDMD	.	frameshift deletion	GSDMD:NM_024736:exon8:c.912delG:p.D305Tfs*74,GSDMD:NM_001166237:exon11:c.912delG:p.D305Tfs*74	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	46.4	32	chr8	143562046	.	TG	T	46.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.73;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PL	0/1:4,2:6:57:57,0,118	6	0	1	0	.
chr8	143586484	143586484	G	A	intronic	EEF1D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs755602465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.941e-05	3.94e-05	3.853e-05	4.032e-05	0.0002	1.715e-05	1.129e-05	1.918e-05	1.032e-05	7.234e-05	0	0	0	0.0002	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	179.21	19	chr8	143586484	.	G	A	179.21	.	AC=2;AF=0.143;AN=14;DP=200;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=22.4;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,8:8:24:200,24,0	6	1	0	0	.
chr8	143720681	143720681	G	A	intronic	MAPK15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	241.24	34	chr8	143720681	.	G	A	241.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-2.826;DP=381;ExcessHet=0.3476;FS=194.526;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=1.98;ReadPosRankSum=-0.216;SOR=7.824	GT:AD:DP:GQ:PL	0/1:3,2:5:50:50,0,77	5	0	2	0	.
chr8	144515062	144515062	C	T	exonic	RECQL4	.	synonymous SNV	RECQL4:NM_004260:exon9:c.G1494A:p.T498T	Baller-Gerold syndrome, Autosomal recessive;RAPADILINO syndrome, Autosomal recessive;Rothmund-Thomson syndrome, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	396449	not_specified|not_provided|Baller-Gerold_syndrome|Inborn_genetic_diseases	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009039,MedGen:C0265308,OMIM:218600,Orphanet:1225|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.000199681	1.299e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs557281237	1.718e-05	1.71e-05	1.367e-05	2.074e-05	8.987e-05	1.179e-05	9.97e-06	2.381e-05	1.26e-05	8.987e-05	2.279e-05	0	0	0	0	1.712e-05	3.324e-05	0	1.97e-05	1.968e-05	3.855e-05	0	2.941e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.407e-05	0	0	0	0	0	0	2.941e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	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	1	0.000506	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003817	0.07143	150.44	33	chr8	144515062	.	C	T	150.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.48;DP=214;ExcessHet=0;FS=3.01;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.72;ReadPosRankSum=-1.383;SOR=0.16	GT:AD:DP:GQ:PL	0/1:2,7:9:44:161,0,44	6	0	1	0	.
chr8	145054090	145054090	G	A	exonic	C8orf33	.	nonsynonymous SNV	C8orf33:NM_023080:exon5:c.G623A:p.R208H	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.00315359631095	7.7e-05	.	4.942e-05	0.0002	8.637e-05	0	0	2.997e-05	0	6.056e-05	5.17e-05	8	154602	rs201217995	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	9.833e-05	0.0002	0.0001	8.961e-05	0.0003	0	2.519e-05	0	0	0.0001	0.0002	2.319e-05	0.0002	0.0002	0.0002	0.0002	0.0015	0.0002	0.0001	0.0010	0.0009	0.0001	0	0.0015	0	0	0	0	8.819e-05	0	0	0.011	0.55530	D	0.138	0.33780	T	1.0	0.90584	D	0.997	0.86255	D	0.082926	0.20781	N	0.454617	1	0.08975	N	2.6	0.76081	M	.	.	.	-1.26	0.31778	N	0.073	0.04668	-0.9632	0.38567	T	0.199	0.55428	T	8	0.075226605	0.11600	T	0.003154	0.06876	T	0.201	0.48592	.	.	0.31077124679	0.30691	0.18116480256894793	0.18035	0.428538840391	0.43169	.	.	.	0.009849	0.08936	T	-0.283436	0.10307	T	-0.322947	0.42250	T	0.0784311890602112	0.09786	T	0.755224	0.37818	T	0.062405445	0.13029	0.048847742	0.07343	0.062405445	0.13029	0.048847742	0.07342	-5.874	0.45212	T	.	.	0.090	0.16494	B	.;.;.;.;.	.;.;.;.;.	2.513614	0.32468	19.05	0.99865774765879256	0.94366	0.10930	0.16291	N	AEFDBI	0.097459	0.19657	N	0.0355165213204404	0.43476	2.639844	-0.15173210364175	0.33343	1.906239	0.999999912828421	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.32	3.32	0.37134	0.231000	0.17651	4.003000	0.41092	0.654000	0.53741	0.012000	0.18695	1.000000	0.68203	0.082000	0.17360	0.0:0.0:1.0:0.0	10.396	0.43387	531	0.73574	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	63.44	33	chr8	145054090	.	G	A	63.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.524;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=1.65;SOR=1.179	GT:AD:DP:GQ:PL	0/1:2,3:5:34:74,0,34	6	0	1	0	.
chr9	35740931	35740931	T	C	exonic	GBA2	.	nonsynonymous SNV	GBA2:NM_001330660:exon5:c.A920G:p.N307S,GBA2:NM_020944:exon5:c.A920G:p.N307S	Spastic paraplegia 46, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.270	0.0521185696881	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.21718	T	0.176	0.29843	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.205	0.62170	M	.	.	.	-2.94	0.64478	D	0.813	0.80866	-0.2722	0.75752	T	0.438	0.77733	T	9	0.81944734	0.81159	D	0.052119	0.64939	D	0.270	0.58507	.	.	0.640935244609	0.63797	0.6768186916343968	0.67620	0.623771184551	0.56604	0.536118865013	0.43898	T	0.621184	0.88128	D	-0.0505569	0.44361	T	-0.310398	0.43615	T	0.836964676258882	0.49082	D	0.948505	0.80194	D	0.2854741	0.51568	0.25593233	0.51284	0.2854741	0.51568	0.25593233	0.51283	-7.385	0.57653	T	0.19543923813306965	0.25783	0.377	0.62825	A	.;.	.;.	3.649919	0.51800	23.1	0.99833157591070931	0.91456	0.97346	0.74169	D	AEFDBCI	0.911934	0.87187	D	0.746197662101971	0.82657	7.816971	0.729192382702528	0.84593	8.335976	0.999999999999989	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.95	5.95	0.96415	7.847000	0.85186	7.956000	0.75945	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.410	0.83546	94	0.96106	Glycosyl-hydrolase family 116, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	49.44	36	chr9	35740931	.	T	C	49.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.967;DP=240;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.94;ReadPosRankSum=1.83;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,2:10:60:0|1:35740931_T_C:60,0,330:35740931	6	0	1	0	.
chr9	35740940	35740940	C	T	exonic	GBA2	.	nonsynonymous SNV	GBA2:NM_001330660:exon5:c.G911A:p.G304D,GBA2:NM_020944:exon5:c.G911A:p.G304D	Spastic paraplegia 46, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0109171930528	.	.	8.24e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs781401822	6.841e-07	6.84e-07	0	1.375e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.25055	T	0.165	0.31629	T	0.957	0.66517	D	0.837	0.62516	P	0.000022	0.55875	D	0.157480	0.999997	0.58761	D	1.84	0.48285	L	.	.	.	-3.65	0.69950	D	0.751	0.75009	-0.6336	0.63418	T	0.304	0.67510	T	9	0.7602317	0.76289	D	0.010917	0.28000	T	0.144	0.38394	.	.	0.622847267328	0.61978	0.8271134895462563	0.82669	0.607307371854	0.55543	0.667712807655	0.62512	T	0.615563	0.87878	D	-0.0815635	0.39462	T	-0.129235	0.61036	T	0.619977295398712	0.37205	D	0.90391	0.66280	D	0.27556726	0.50620	0.290826	0.55107	0.27556726	0.50619	0.290826	0.55106	-10.02	0.75265	D	0.2311444037605442	0.31278	0.096	0.15251	B	.;.	.;.	3.724832	0.53253	23.3	0.9977144634247348	0.85918	0.93221	0.57641	D	AEFDBCI	0.547183	0.56098	D	0.542330508732232	0.69615	5.382385	0.52618056158549	0.69759	5.40623	0.999999999218782	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.95	5.05	0.67566	4.023000	0.56921	5.962000	0.51841	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.952000	0.50033	0.0:0.8591:0.0:0.1409	10.743	0.45363	94	0.96106	Glycosyl-hydrolase family 116, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	46.44	36	chr9	35740940	.	C	T	46.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.66;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.22;ReadPosRankSum=0.66;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,2:11:57:0|1:35740931_T_C:57,0,352:35740931	6	0	1	0	C
chr9	76706970	76706970	A	G	exonic	PRUNE2	.	synonymous SNV	PRUNE2:NM_001308047:exon8:c.T5304C:p.T1768T,PRUNE2:NM_001308048:exon8:c.T5304C:p.T1768T,PRUNE2:NM_015225:exon8:c.T5304C:p.T1768T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.07143	61.44	67	chr9	76706970	.	A	G	61.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.697;DP=561;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.78;ReadPosRankSum=1.01;SOR=0.446	GT:AD:DP:GQ:PL	0/1:4,3:7:72:72,0,136	6	0	1	0	.
chr9	76708790	76708790	C	T	exonic	PRUNE2	.	nonsynonymous SNV	PRUNE2:NM_001308047:exon8:c.G3484A:p.E1162K,PRUNE2:NM_001308048:exon8:c.G3484A:p.E1162K,PRUNE2:NM_015225:exon8:c.G3484A:p.E1162K	.	.	.	.	.	.	.	.	.	.	.	3897950	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.127	0.0451605441588	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1286143216	4.105e-06	4.104e-06	2.723e-06	5.501e-06	3.478e-05	1.48e-06	9.7e-07	9.24e-06	4.56e-06	2.987e-05	0	0	0	0	0	1.799e-06	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.15	0.32461	T	0.983	0.60381	D	0.306	0.41250	B	0.000018	0.62929	D	0.000000	0.999108	0.21619	N	2.275	0.64647	M	0.09	0.61443	T	-2.34	0.51811	N	0.589	0.60918	-0.9060	0.47332	T	0.184	0.53240	T	10	0.56094867	0.64784	D	0.045161	0.61848	D	0.205	0.49236	0.198	0.11110	0.68520084859	0.68251	0.211733937665082	0.21089	0.440588710916	0.44061	0.407256066799	0.26077	T	0.014167	0.22806	T	-0.00481167	0.50987	T	-0.147834	0.59435	T	0.66737300157547	0.39221	D	0.90001	0.65253	D	0.34907147	0.56994	0.27601907	0.53543	0.34907147	0.56994	0.27601907	0.53542	-3.974	0.23413	T	.	.	0.133	0.28807	B	.;.;.	.;.;.	3.189814	0.43335	21.7	0.99663057274965383	0.78074	0.60171	0.31120	D	AEFDBCI	0.107948	0.21491	N	0.0144683067049533	0.42513	2.562926	0.0402142871881247	0.41602	2.502079	0.999244084471061	0.38873	0.638212	0.43195	0	0.563428	0.19063	0	0.653264	0.51672	0	0.586402	0.36253	0	.	.	6.08	6.08	0.98982	2.242000	0.42756	5.979000	0.52135	0.599000	0.40250	0.913000	0.31760	1.000000	0.68203	0.007000	0.07825	0.0:0.8804:0.0:0.1196	11.594	0.50216	935	0.14827	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	142.44	50	chr9	76708790	.	C	T	142.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.967;DP=521;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=-0.431;SOR=1.329	GT:AD:DP:GQ:PL	0/1:4,6:10:69:153,0,69	6	0	1	0	C
chr9	107487143	107487143	C	G	exonic	KLF4	.	nonsynonymous SNV	KLF4:NM_001314052:exon3:c.G1251C:p.R417S,KLF4:NM_004235:exon4:c.G1149C:p.R383S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.015437981387	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1055601652	1.847e-05	1.847e-05	2.586e-05	1.1e-05	2.338e-05	1.265e-05	1.084e-05	1.627e-05	1.382e-05	0	0	0	0	0	0	2.338e-05	1.656e-05	0	3.285e-05	3.283e-05	3.854e-05	2.69e-05	7.349e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.349e-05	0	0	0.0	0.91255	D	0.003	0.76473	D	0.461	0.36363	P	0.324	0.41853	B	0.005540	0.32720	N	0.140255	0.999867	0.50061	D	.	.	.	3.18	0.07478	T	-5.95	0.89152	D	0.552	0.69300	-1.1522	0.00961	T	0.060	0.25163	T	10	0.3209747	0.49466	T	0.015438	0.36172	T	0.175	0.44197	.	.	0.513042017857	0.50944	0.6226012613771811	0.62193	0.27921572844	0.30403	0.843757450581	0.88667	D	0.291788	0.66453	T	-0.00522167	0.50931	T	-0.13762	0.60324	T	0.980601906776428	0.73449	D	0.90231	0.66640	D	.	.	.	.	.	.	.	.	-11.991	0.84808	D	.	.	0.843	0.79411	P	.;.	.;.	4.093493	0.60986	24.3	0.99175183488676577	0.54498	0.60981	0.31351	D	AEFDGBCI	0.545014	0.55970	D	0.128078119235517	0.47775	2.998647	0.0812111553778328	0.43605	2.658757	0.99999910092135	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.503968	0.08637	0	0.56751	0.32155	0	.	.	5.57	2.31	0.27816	-0.098000	0.10993	2.574000	0.33380	0.599000	0.40250	0.819000	0.29975	1.000000	0.68203	0.999000	0.91618	0.0:0.7195:0.0:0.2805	10.659	0.44886	747	0.52260	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	58.44	34	chr9	107487143	.	C	G	58.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.645;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=1.65;SOR=0.223	GT:AD:DP:GQ:PL	0/1:2,3:5:68:69,0,68	6	0	1	0	.
chr9	107488327	107488327	C	T	intronic	KLF4	.	.	.	.	451	1070	1	0	0	1	0.000467071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs112583783	8.048e-05	7.593e-05	7.945e-05	8.157e-05	0.0016	6.796e-05	6.288e-05	0.0007	0.0005	0	3.558e-05	4.748e-05	0	5.898e-05	0.0016	8.934e-05	5.441e-05	0	0.0001	0.0001	0.0001	8.064e-05	0.0002	7.091e-05	5.747e-05	0.0001	7.898e-05	0	0	0.0002	0	0	0	0.0068	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	190.19	21	chr9	107488327	.	C	T	190.19	.	AC=2;AF=0.143;AN=14;DP=193;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=27.17;SOR=0.941	GT:AD:DP:GQ:PL	1/1:0,7:7:21:211,21,0	6	1	0	0	C
chr9	111785926	111785926	C	T	exonic	SHOC1	.	nonsynonymous SNV	SHOC1:NM_001378211:exon3:c.G155A:p.R52K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00982530020294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.26519	T	0.0	0.92824	D	.	.	.	.	.	.	0.739388	0.09789	N	0.842164	1	0.81001	D	.	.	.	1.07	0.39586	T	-0.42	0.14193	N	0.074	0.04790	-1.0257	0.21853	T	0.051	0.21650	T	9	0.05960405	0.07189	T	0.009825	0.25608	T	0.027	0.05988	0.243	0.17677	0.171388866994	0.16791	.	.	.	.	.	.	.	.	.	.	-0.349256	0.04774	T	-0.739458	0.03913	T	0.19066447019577	0.19883	T	0.360464	0.08297	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.23605	B	.	.	0.716092	0.10848	7.528	0.97664371873526923	0.35218	0.21825	0.21537	N	AEFI	0.050075	0.08717	N	-0.83367359060134	0.12455	0.6072414	-0.796703503127568	0.14575	0.7622901	0.0286760787035512	0.13845	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.04	-3.37	0.04591	-0.626000	0.05624	-0.210000	0.10862	-0.223000	0.07921	0.582000	0.27602	0.017000	0.20586	0.904000	0.43992	0.1351:0.2832:0.2666:0.3151	1.069	0.01517	378	0.83833	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	55.44	34	chr9	111785926	.	C	T	55.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.473;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.04;ReadPosRankSum=0.456;SOR=0.495	GT:AD:DP:GQ:PL	0/1:7,4:11:66:66,0,148	6	0	1	0	.
chr9	127929868	127929868	-	G	exonic	PIP5KL1	.	stopgain	PIP5KL1:NM_001135219:exon2:c.47dupC:p.E17*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	36.4	32	chr9	127929868	.	A	AG	36.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.07;ReadPosRankSum=-1.501;SOR=0.693	GT:AD:DP:GQ:PL	0/1:4,2:6:47:47,0,113	6	0	1	0	.
chr9	131127706	131127706	T	C	exonic	NUP214	.	synonymous SNV	NUP214:NM_001318324:exon2:c.T228C:p.D76D,NUP214:NM_005085:exon2:c.T228C:p.D76D	Leukemia, T-cell acute lymphoblastic, somatic;Leukemia, acute myeloid, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.1667	51.24	21	chr9	131127706	.	T	C	51.24	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.016;DP=182;ExcessHet=0.3476;FS=28.995;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.25;ReadPosRankSum=0;SOR=5	GT:AD:DP:GQ:PL	0/1:2,3:5:6:37,0,6	4	0	2	1	.
chr9	133065134	133065134	T	C	exonic	CEL	.	synonymous SNV	CEL:NM_001807:exon4:c.T435C:p.Y145Y	Maturity-onset diabetes of the young, type VIII, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.751e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.07143	70.44	33	chr9	133065134	.	T	C	70.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.282;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=1.28;SOR=0.693	GT:AD:DP:GQ:PL	0/1:1,4:5:27:81,0,27	6	0	1	0	.
chr10	6213678	6213678	C	T	exonic	PFKFB3	.	synonymous SNV	PFKFB3:NM_001145443:exon2:c.C72T:p.P24P,PFKFB3:NM_001282630:exon2:c.C174T:p.P58P,PFKFB3:NM_001314063:exon2:c.C132T:p.P44P,PFKFB3:NM_001323016:exon2:c.C72T:p.P24P,PFKFB3:NM_001363545:exon2:c.C132T:p.P44P,PFKFB3:NM_004566:exon2:c.C132T:p.P44P	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000199681	9.068e-05	0.0002	0	0	0	0.0001	0	0	7.76e-05	12	154602	rs146319524	6.706e-05	6.704e-05	6.672e-05	6.74e-05	8.005e-05	5.63e-05	5.173e-05	6.61e-05	6.141e-05	0	0	0	0	0	0	8.005e-05	0.0001	1.161e-05	7.878e-05	7.874e-05	7.709e-05	8.055e-05	0.0006	4.493e-05	3.509e-05	0.0002	8.387e-05	0	0	0	0	0.0006	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.07143	102.44	33	chr10	6213678	.	C	T	102.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.262;DP=216;ExcessHet=0;FS=2.808;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=-0.12;SOR=0.707	GT:AD:DP:GQ:PL	0/1:4,5:9:73:113,0,73	6	0	1	0	.
chr10	6216640	6216640	G	C	intronic	PFKFB3	.	.	.	.	414	1105	3	0	0	3	0.00135563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866580050	9.845e-05	8.027e-05	7.991e-05	0.0001	0.0061	8.221e-05	7.635e-05	0.0043	0.0038	4.247e-05	0	0	0	0	0.0061	8.744e-05	0.0001	1.32e-05	3.94e-05	3.937e-05	2.57e-05	5.372e-05	5.879e-05	1.715e-05	1.129e-05	1.972e-05	1.124e-05	2.407e-05	0	0	0	0	0	0.0034	5.879e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	99.44	36	chr10	6216640	.	G	C	99.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.24;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-2.45;SOR=1.609	GT:AD:DP:GQ:PL	0/1:4,4:8:75:110,0,75	6	0	1	0	C
chr10	7738691	7738691	C	G	exonic	ITIH2	.	synonymous SNV	ITIH2:NM_002216:exon16:c.C2028G:p.P676P	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	6.603e-05	9.621e-05	0	0	0	0.0001	0	0	9.06e-05	14	154602	rs146607033	8.758e-05	8.756e-05	8.17e-05	9.353e-05	0.0012	7.49e-05	7.037e-05	0.0006	0.0004	0.0002	0.0001	0.0017	0	0	0.0012	5.307e-05	4.969e-05	2.319e-05	8.537e-05	8.53e-05	8.995e-05	8.058e-05	6.539e-05	4.954e-05	3.961e-05	1.972e-05	1.124e-05	2.406e-05	0	6.539e-05	0.0009	0	0	0.0102	5.88e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.001007	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	64.44	33	chr10	7738691	.	C	G	64.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=226;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.05;ReadPosRankSum=2.45;SOR=0.693	GT:AD:DP:GQ:PL	0/1:4,4:8:75:75,0,75	6	0	1	0	.
chr10	12084816	12084816	C	T	intronic	DHTKD1	.	.	.	2-aminoadipic 2-oxoadipic aciduria, Autosomal recessive	134	1387	1	0	0	1	0.00036036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs554466504	9.276e-06	1.167e-05	7.775e-06	1.076e-05	0.0002	4.95e-06	3.91e-06	5.22e-06	3.8e-06	0	0	0	0	0	0.0002	1.032e-05	1.832e-05	0	2.63e-05	3.282e-05	3.859e-05	1.345e-05	5.883e-05	8.15e-06	5.14e-06	1.973e-05	1.125e-05	0	0	0	0	0	0	0	5.883e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	64.44	24	chr10	12084816	.	C	T	64.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.645;DP=202;ExcessHet=0;FS=3.979;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.524;SOR=0.061	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:75:0|1:12084816_C_T:75,0,97:12084816	6	0	1	0	.
chr10	43111779	43111779	C	A	intronic	RET	.	.	.	Central hypoventilation syndrome, congenital, Autosomal dominant;Medullary thyroid carcinoma, Autosomal dominant;Multiple endocrine neoplasia IIA, Autosomal dominant;Multiple endocrine neoplasia IIB, Autosomal dominant;Pheochromocytoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	58.44	35	chr10	43111779	.	C	A	58.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.366;DP=260;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.35;ReadPosRankSum=-0.366;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:69:0|1:43111779_C_A:69,0,204:43111779	6	0	1	0	.
chr10	43111782	43111782	C	A	intronic	RET	.	.	.	Central hypoventilation syndrome, congenital, Autosomal dominant;Medullary thyroid carcinoma, Autosomal dominant;Multiple endocrine neoplasia IIA, Autosomal dominant;Multiple endocrine neoplasia IIB, Autosomal dominant;Pheochromocytoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	58.44	35	chr10	43111782	.	C	A	58.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.366;DP=260;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.35;ReadPosRankSum=-0.366;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:69:0|1:43111779_C_A:69,0,204:43111779	6	0	1	0	C
chr10	53806959	53806959	G	A	exonic	PCDH15	.	nonsynonymous SNV	PCDH15:NM_001354420:exon34:c.C4648T:p.R1550C,PCDH15:NM_001354429:exon37:c.C4777T:p.R1593C,PCDH15:NM_001384140:exon38:c.C4843T:p.R1615C	Deafness, autosomal recessive 23, Autosomal recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive;Usher syndrome, type 1F, Autosomal recessive	1	1518	3	0	0	3	0.000987167	.	.	.	4007805	Autosomal_recessive_nonsyndromic_hearing_loss_23|Usher_syndrome_type_1D|Usher_syndrome_type_1F	MONDO:MONDO:0012293,MedGen:C1836027,OMIM:609533,Orphanet:90636|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MONDO:MONDO:0011186,MedGen:C1865885,OMIM:602083,Orphanet:231169,Orphanet:886	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.253	0.00606562582175	.	0.000199681	1.665e-05	0	0	0	0	1.509e-05	0	6.057e-05	1.29e-05	2	154602	rs570828018	1.163e-05	1.163e-05	1.361e-05	9.627e-06	2.319e-05	7.09e-06	5.79e-06	6.52e-06	5.03e-06	0	2.236e-05	0	0	0	0	1.169e-05	1.656e-05	2.319e-05	1.314e-05	1.312e-05	2.572e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	6.552e-05	0	0	0	0	0	0	0.0002	.	.	.	0.005	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.81711	0.34722	D	.	.	.	.	.	.	.	.	.	0.55	0.84922	-0.1559	0.78771	T	0.435	0.77523	T	9	0.32615846	0.49917	T	0.006066	0.15846	T	0.253	0.56294	0.422	0.46529	0.478905595755	0.47518	.	.	.	.	.	.	.	0.051741	0.29924	T	-0.116632	0.33675	T	-0.223782	0.52371	T	0.81679493188858	0.47536	D	0.944006	0.78847	D	.	.	.	.	.	.	.	.	-6.336	0.49007	T	.	.	0.373	0.61700	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.346220	0.66720	25.0	0.99841717576915789	0.92229	0.92721	0.56383	D	AEFGI	0.744662	0.68758	D	0.735731330709004	0.81976	7.649409	0.736585793741386	0.85151	8.49608	7.66553864448293E-4	0.07776	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	3.734000	0.54760	8.669000	0.78002	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.8542:0.1458	14.621	0.68184	968	0.07033	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	144.44	34	chr10	53806959	.	G	A	144.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.15;DP=219;ExcessHet=0;FS=3.332;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.05;ReadPosRankSum=-2.369;SOR=1.901	GT:AD:DP:GQ:PL	0/1:3,5:8:60:155,0,60	6	0	1	0	.
chr10	73516568	73516568	G	C	exonic	USP54	.	synonymous SNV	USP54:NM_001320437:exon18:c.C3687G:p.S1229S,USP54:NM_001350995:exon18:c.C3567G:p.S1189S,USP54:NM_001378208:exon18:c.C3687G:p.S1229S,USP54:NM_001378209:exon18:c.C3687G:p.S1229S,USP54:NM_001378210:exon18:c.C3687G:p.S1229S,USP54:NM_152586:exon19:c.C3858G:p.S1286S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.647e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs765407574	1.436e-05	1.436e-05	1.497e-05	1.375e-05	2.236e-05	9.23e-06	7.84e-06	1.012e-05	8.35e-06	0	2.236e-05	0	0	0	0	1.619e-05	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.07143	107.44	40	chr10	73516568	.	G	C	107.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.501;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=0.608;SOR=0.693	GT:AD:DP:GQ:PL	0/1:4,6:10:99:118,0,99	6	0	1	0	.
chr10	84232136	84232136	G	A	exonic	LRIT1	.	nonsynonymous SNV	LRIT1:NM_015613:exon4:c.C1663T:p.R555C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.141902228558	.	.	2.477e-05	0	8.658e-05	0	0	1.502e-05	0	6.066e-05	1.94e-05	3	154602	rs75121307	1.71e-05	1.71e-05	1.089e-05	2.338e-05	8.115e-05	1.174e-05	9.92e-06	3.765e-05	2.662e-05	0	4.472e-05	0	0	0	0	1.259e-05	3.311e-05	8.115e-05	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.003	0.68238	D	0.0	0.92824	D	0.998	0.73220	D	0.836	0.59919	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.935	0.51832	L	1.16	0.38073	T	-1.38	0.34198	N	0.717	0.71942	-0.7212	0.59404	T	0.202	0.55822	T	10	0.77996993	0.77771	D	0.141902	0.82430	D	0.221	0.51721	0.419	0.46036	0.592368907089	0.58914	0.4003488836497141	0.39949	0.490798061332	0.47791	0.394835025072	0.24348	T	0.060706	0.31460	T	-0.0722669	0.40963	T	-0.160055	0.58347	T	0.851059556007385	0.50257	D	0.731927	0.34732	T	0.2862604	0.51643	0.18898122	0.42219	0.2862604	0.51642	0.18898122	0.42218	-4.618	0.32397	T	.	.	0.147	0.32493	B	.	.	4.769967	0.77205	26.7	0.99939839623557603	0.99767	0.98794	0.86939	D	AEFGBI	0.885924	0.81686	D	0.648620524730479	0.76280	6.457333	0.609792269222227	0.75652	6.348223	0.990152126043238	0.32057	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.49	5.49	0.81022	7.601000	0.82027	8.620000	0.77807	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.731000	0.35132	0.0:0.0:1.0:0.0	18.159	0.89636	925	0.17918	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	529.22	38	chr10	84232136	.	G	A	529.22	.	AC=2;AF=0.143;AN=14;DP=222;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=27.85;SOR=0.793	GT:AD:DP:GQ:PL	1/1:0,19:19:57:550,57,0	6	1	0	0	.
chr10	87743518	87743518	C	T	exonic	PAPSS2	.	synonymous SNV	PAPSS2:NM_004670:exon10:c.C1353T:p.D451D,PAPSS2:NM_001015880:exon11:c.C1368T:p.D456D	Brachyolmia 4 with mild epiphyseal and metaphyseal changes, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1630553	Spondyloepimetaphyseal_dysplasia,_PAPSS2_type	MONDO:MONDO:0019666,MedGen:C2748516,OMIM:612847,Orphanet:93282	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0002	.	1.648e-05	0	0	0.0001	0	1.499e-05	0	0	3.23e-05	5	154602	rs377483950	0.0001	0.0001	0.0001	9.626e-05	0.0002	9.266e-05	8.731e-05	0.0001	0.0001	2.987e-05	0	0	5.04e-05	0	0.0002	0.0001	1.656e-05	0	7.231e-05	7.225e-05	0.0001	2.691e-05	0.0002	3.973e-05	3.128e-05	5.842e-05	4.239e-05	4.829e-05	0	0	0	0.0002	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	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	1	.	.	.	.	.	.	.	.	0.1429	217.21	33	chr10	87743518	.	C	T	217.21	.	AC=2;AF=0.143;AN=14;DP=219;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=24.13;SOR=0.892	GT:AD:DP:GQ:PL	1/1:0,9:9:27:238,27,0	6	1	0	0	.
chr10	93901181	93901181	C	T	exonic	SLC35G1	.	synonymous SNV	SLC35G1:NM_001134658:exon3:c.C789T:p.L263L,SLC35G1:NM_001345993:exon3:c.C738T:p.L246L,SLC35G1:NM_153226:exon3:c.C786T:p.L262L	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	0.000199681	6.591e-05	0	0	0	0	8.992e-05	0.0011	6.058e-05	6.47e-05	10	154602	rs199750824	3.352e-05	3.42e-05	3.267e-05	3.438e-05	0.0010	2.566e-05	2.312e-05	0.0005	0.0003	0	0	3.826e-05	2.519e-05	0	0.0010	2.788e-05	6.623e-05	6.956e-05	4.598e-05	4.594e-05	3.855e-05	5.374e-05	7.351e-05	2.108e-05	1.526e-05	2.847e-05	1.858e-05	0	0	0	0	0	0	0.0034	7.351e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	50.44	37	chr10	93901181	.	C	T	50.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.98;DP=213;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.21;ReadPosRankSum=0.431;SOR=1.802	GT:AD:DP:GQ:PL	0/1:5,2:7:61:61,0,113	6	0	1	0	.
chr10	97064949	97064949	C	T	intronic	SLIT1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs898774889	1.16e-05	1.244e-05	1.369e-05	9.56e-06	0.0002	6.19e-06	4.89e-06	5.655e-05	3.394e-05	0.0002	0	4.739e-05	0	0	0	9.302e-06	0	0	4.616e-05	4.608e-05	5.16e-05	4.048e-05	0.0001	2.116e-05	1.531e-05	6.341e-05	4.338e-05	0.0001	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	55.44	35	chr10	97064949	.	C	T	55.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.65;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=-1.645;SOR=1.609	GT:AD:DP:GQ:PL	0/1:3,2:5:66:66,0,70	6	0	1	0	.
chr10	104255281	104255281	C	T	intronic	GSTO1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	63.44	38	chr10	104255281	.	C	T	63.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.524;DP=229;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-1.036;SOR=1.179	GT:AD:DP:GQ:PL	0/1:2,3:5:34:74,0,34	6	0	1	0	.
chr10	116707153	116707157	GCACA	0	intronic	HSPA12A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1178.71	30	chr10	116707153	.	GCACA	*	1178.71	.	AC=7;AF=0.5;AN=14;BaseQRankSum=1.66;DP=245;ExcessHet=2.5225;FS=2.544;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.51;ReadPosRankSum=1.32;SOR=0.916	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,2:6:65:1|0:116707151_GCGCA_G:194,115,162:116707151	2	2	3	0	.
chr10	122227937	122227937	G	A	exonic	TACC2	.	nonsynonymous SNV	TACC2:NM_006997:exon8:c.G2059A:p.V687M,TACC2:NM_206860:exon8:c.G2059A:p.V687M,TACC2:NM_001291878:exon9:c.G2095A:p.V699M,TACC2:NM_001291879:exon10:c.G937A:p.V313M,TACC2:NM_206861:exon11:c.G2263A:p.V755M,TACC2:NM_001291876:exon13:c.G7690A:p.V2564M,TACC2:NM_001291877:exon13:c.G7837A:p.V2613M,TACC2:NM_206862:exon14:c.G7825A:p.V2609M	.	429	1090	3	0	0	3	0.00137426	.	.	.	2672914	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.048	0.0118040479916	.	.	4.121e-05	0	0	0	0	7.499e-05	0	0	3.23e-05	5	154602	rs200541273	4.994e-05	4.994e-05	4.084e-05	5.913e-05	2.987e-05	4.059e-05	3.734e-05	9.31e-06	7.61e-06	2.987e-05	0	0.0017	0	0	0	1.529e-05	0.0002	1.159e-05	2.627e-05	2.626e-05	2.568e-05	2.689e-05	.	8.14e-06	5.14e-06	.	.	0	0	0	0.0012	0	0	0	0	0	0	0.002	0.72154	D	0.049	0.58089	D	0.429	0.43409	B	0.27	0.41633	B	0.337495	0.14016	N	0.533387	0.990594	0.27459	N	1.39	0.34934	L	3.95	0.18570	T	-1.13	0.30762	N	0.302	0.34336	-1.0707	0.09260	T	0.032	0.13592	T	10	0.009913832	0.00222	T	0.011804	0.29782	T	0.048	0.13305	0.132	0.03662	0.319686207203	0.31575	0.13741907348314877	0.13665	0.240167342679	0.26565	0.333066642284	0.15397	T	0.035837	0.23874	T	-0.284258	0.10222	T	-0.538436	0.18450	T	0.0725953248392799	0.09010	T	0.972203	0.89922	D	0.061629355	0.12783	0.08979402	0.21019	0.061629355	0.12782	0.08979402	0.21018	-5.123	0.39165	T	.	.	0.096	0.17953	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.086137	0.26537	17.15	0.98423824042551211	0.41320	0.21517	0.21429	N	AEFGBI	0.109281	0.21710	N	-0.607417867436289	0.18720	0.9741876	-0.555180450611674	0.20668	1.114601	0.657845636368872	0.22238	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.25	3.37	0.37692	-0.340000	0.07868	.	.	-0.120000	0.14102	0.192000	0.24212	0.998000	0.33993	0.964000	0.52637	0.0:0.2515:0.4596:0.2889	8.779	0.33938	951	0.11083	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1429	157.25	33	chr10	122227937	.	G	A	157.25	.	AC=2;AF=0.143;AN=14;DP=209;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=26.21;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,6:6:18:178,18,0	6	1	0	0	.
chr10	122577797	122577797	T	-	intronic	DMBT1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.736e-06	0	4.127e-06	3.481e-05	5.5e-07	1.5e-07	9.25e-06	4.56e-06	0	0	0	0	0	0	0	0	3.481e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	31.4	34	chr10	122577796	.	AT	A	31.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.49;ReadPosRankSum=-1.068;SOR=0.446	GT:AD:DP:GQ:PL	0/1:5,2:7:42:42,0,131	6	0	1	0	.
chr10	125003105	125003105	C	T	splicing	CTBP2	NM_001290214:exon5:c.214-1G>A;NM_001321013:exon4:c.214-1G>A;NM_001329:exon5:c.214-1G>A;NM_001290215:exon5:c.214-1G>A;NM_001321012:exon5:c.214-1G>A;NM_001321014:exon5:c.214-1G>A;NM_001083914:exon5:c.214-1G>A;NM_001363508:exon3:c.418-1G>A;NM_022802:exon3:c.1834-1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.89	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225786	0.76323	D	0.0865494	0.76014	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.	.;.;.;.;.;.	6.142422	0.94657	34	0.99186554228697821	0.54848	0.98144	0.79977	D	AEFDGBCI	.	.	.	0.957874635170878	0.94294	12.64636	0.734653814125909	0.85008	8.453678	1.0	0.98316	0.298561	0.05477	0	0.097471	0.02872	0	0.193828	0.04512	0	0.195515	0.04268	0	0.970061	0.72327	4.68	4.68	0.58319	6.165000	0.71729	7.482000	0.59270	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.153000	0.20410	0.0:1.0:0.0:0.0	17.956	0.88988	925	0.17918	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	71.58	85	chr10	125003105	.	C	T	71.58	.	AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=579;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=53.58;MQRankSum=0;QD=14.32;ReadPosRankSum=-1.645;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:75:0|1:125003105_C_T:75,0,120:125003105	0	0	1	6	.
chr10	125003107	125003107	G	T	intronic	CTBP2	.	.	.	.	.	.	.	.	.	.	.	0.6837	0.564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	71.58	84	chr10	125003107	.	G	T	71.58	.	AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=568;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=56.82;MQRankSum=0;QD=14.32;ReadPosRankSum=-1.645;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:75:0|1:125003105_C_T:75,0,120:125003105	0	0	1	6	C
chr11	314867	314867	G	A	intronic	IFITM1	.	.	.	.	395	1125	2	0	0	2	0.000888099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	.	.	.	.	.	.	.	.	0.0004226	11	26028	rs111407978	0.0003	0.0003	0.0003	0.0003	0.0019	0.0002	0.0002	0.0012	0.0011	0.0015	0.0006	0.0021	0	1.89e-05	0.0019	0.0002	0.0007	0.0001	0.0004	0.0004	0.0003	0.0005	0.0011	0.0004	0.0003	0.0007	0.0006	0.0006	0	0.0011	0.0020	0	0	0.0034	0.0002	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	39.44	34	chr11	314867	.	G	A	39.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=236;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=54.54;MQRankSum=0.842;QD=6.57;ReadPosRankSum=0.431;SOR=0.223	GT:AD:DP:GQ:PL	0/1:4,2:6:50:50,0,118	6	0	1	0	.
chr11	1017790	1017790	T	C	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.A5011G:p.M1671V	.	353	1167	2	0	0	2	0.000856164	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00206868014145	.	.	.	.	.	.	.	.	.	.	.	.	.	rs553011039	0	1.644e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0005	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.908	0.02378	T	0.616	0.07543	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.12	0.28775	L	2.45	0.15028	T	0.52	0.02853	N	0.043	0.01577	-0.9518	0.40660	T	0.015	0.06234	T	9	0.04430124	0.03372	T	0.002069	0.03801	T	0.009	0.00846	0.215	0.13498	0.128392430309	0.12331	0.1698396690787368	0.16903	0.0903522985447	0.10192	0.189743891358	0.00220	T	0.00904	0.08254	T	-0.263823	0.12457	T	-0.61674	0.11443	T	0.0995563883410625	0.12308	T	.	.	.	0.08071921	0.18509	0.09361893	0.22120	0.08071921	0.18508	0.09361893	0.22120	-4.909	0.35836	T	.	.	0.068	0.02639	B	.	.	-1.187701	0.00543	0.013	0.27800630014354044	0.01397	0.00823	0.03322	N	AEFDGBCI	0.015391	0.00291	N	-1.49328543186723	0.01897	0.08324014	-1.57596161061009	0.01803	0.08209328	0.999991288406582	0.74766	0.004792	0.00041	3	0.008208	0.00037	3	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.31	-1.76	0.07574	-0.699000	0.05188	-20.000000	0.00162	0.366000	0.20181	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3071:0.4386:0.0:0.2543	1.845	0.02967	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	61.44	819	chr11	1017790	.	T	C	61.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.805;DP=5068;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=56.17;MQRankSum=-4.264;QD=1.71;ReadPosRankSum=1;SOR=0.582	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,4:36:72:0|1:1017790_T_C:72,0,1332:1017790	6	0	1	0	.
chr11	6217709	6217709	C	T	exonic	FAM160A2	.	nonsynonymous SNV	FAM160A2:NM_001098794:exon9:c.G1877A:p.G626D,FAM160A2:NM_032127:exon9:c.G1919A:p.G640D	.	0	225	0	1	0	2	0.00442478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.0218417202056	.	.	1.778e-05	0.0001	0	0	0	0	0	6.444e-05	1.29e-05	2	154602	rs781556644	1.713e-05	1.847e-05	1.772e-05	1.653e-05	0.0035	1.176e-05	9.94e-06	0.0023	0.0019	8.973e-05	0	0	0	0	0.0035	0	1.658e-05	1.162e-05	6.573e-06	6.562e-06	1.286e-05	0	2.409e-05	0	0	.	.	2.409e-05	0	0	0	0	0	0	0	0	0	0.286	0.28900	T	0.612	0.07791	T	0.0	0.07471	B	0.0	0.06944	B	0.783862	0.09450	N	0.918964	0.996667	0.22942	N	0.695	0.17993	N	0.91	0.44856	T	0.23	0.06612	N	0.22	0.25499	-1.0086	0.27354	T	0.066	0.27121	T	10	0.060829937	0.07532	T	0.021842	0.44662	T	0.079	0.23065	0.128	0.03331	0.276254252017	0.27237	0.40591355211082003	0.40507	0.426506705413	0.43025	0.405392259359	0.25818	T	0.008662	0.09967	T	-0.346708	0.04937	T	-0.451085	0.27578	T	0.0207600221037865	0.00776	T	0.691431	0.30091	T	0.04103429	0.05968	0.05630023	0.10035	0.04103429	0.05967	0.05630023	0.10034	-4.915	0.35903	T	.	.	0.071	0.11989	B	.;.;.	.;.;.	1.878915	0.23864	16.18	0.44452581502719479	0.03419	0.74928	0.36667	D	AEFDBI	0.142500	0.26495	N	-0.59563794027626	0.19076	0.9955872	-0.46577930385668	0.23102	1.258187	0.844925267073573	0.24935	0.67177	0.52595	0	0.702456	0.74545	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.31	3.41	0.38145	2.713000	0.46862	3.707000	0.39544	0.599000	0.40250	0.850000	0.30445	1.000000	0.68203	0.323000	0.25040	0.0:0.7544:0.1608:0.0847	8.341	0.31403	600	0.68026	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.010101	0.002717	0.005848	0.000000	0.008621	0.000000	0.000000	0.07143	65.44	35	chr11	6217709	.	C	T	65.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.645;DP=302;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.524;SOR=0.223	GT:AD:DP:GQ:PL	0/1:2,3:5:71:76,0,71	6	0	1	0	.
chr11	17077566	17077566	C	A	intronic	RPS13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	44.44	35	chr11	17077566	.	C	A	44.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=215;ExcessHet=0;FS=3.979;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.89;ReadPosRankSum=0;SOR=0.061	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:55:0|1:17077566_C_A:55,0,77:17077566	6	0	1	0	.
chr11	18309097	18309097	A	C	intronic	HPS5	.	.	.	Hermansky-Pudlak syndrome 5	0	1517	5	0	0	5	0.00164528	.	.	.	254088	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs886038752	5.482e-06	5.473e-06	1.364e-06	9.641e-06	0.0005	2.36e-06	1.71e-06	0.0001	7.55e-05	0	0	0	0	0	0.0005	1.802e-06	4.975e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	66.44	34	chr11	18309097	.	A	C	66.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.524;DP=201;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0.524;SOR=1.179	GT:AD:DP:GQ:PL	0/1:2,3:5:34:77,0,34	6	0	1	0	.
chr11	32388028	32388028	A	G	UTR3	WT1	NM_001198551:c.*1030T>C;NM_001198552:c.*1030T>C;NM_024426:c.*1030T>C;NM_024424:c.*1030T>C;NM_001367854:c.*1030T>C;NM_000378:c.*1030T>C	.	.	Denys-Drash syndrome, Autosomal dominant, Somatic mutation;Frasier syndrome, Autosomal dominant, Somatic mutation;Meacham syndrome;Mesothelioma, somatic;Nephrotic syndrome, type 4, Autosomal dominant;Wilms tumor, type 1, Autosomal dominant, Somatic mutation	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.54e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	58.44	38	chr11	32388028	.	A	G	58.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.068;DP=334;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.35;ReadPosRankSum=1.07;SOR=0.148	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:69:0|1:32388003_AACACAC_A:69,0,150:32388003	6	0	1	0	.
chr11	36081727	36081727	C	T	exonic	LDLRAD3	.	nonsynonymous SNV	LDLRAD3:NM_001304263:exon2:c.C121T:p.R41W,LDLRAD3:NM_174902:exon3:c.C268T:p.R90W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.704	0.151399969727	7.7e-05	.	3.295e-05	9.61e-05	0	0	0	4.496e-05	0	0	2.59e-05	4	154602	rs150528116	8.893e-06	8.893e-06	1.089e-05	6.875e-06	0.0002	4.96e-06	3.82e-06	2.375e-05	1.258e-05	8.961e-05	0	0	0	0	0.0002	7.194e-06	0	1.159e-05	1.314e-05	1.313e-05	2.569e-05	0	4.827e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.827e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.019	0.62352	D	0.998	0.73220	D	0.786	0.57542	P	0.000033	0.55875	D	0.119843	0.99845	0.44939	D	1.83	0.48079	L	-3.87	0.95922	D	-6.31	0.90812	D	0.703	0.70702	0.976	0.96795	D	0.906	0.96869	D	10	0.8781126	0.87111	D	0.151	0.83296	D	0.704	0.89376	.	.	0.92121323827	0.92041	0.7384707591224909	0.73792	0.656936052451	0.58672	0.481767177582	0.36300	T	0.591855	0.86791	D	0.0885904	0.63029	D	0.126146	0.78639	D	0.930612206459045	0.59543	D	0.938306	0.78180	D	0.6714732	0.76511	0.6300697	0.78422	0.6714732	0.76512	0.6300697	0.78423	-10.458	0.79012	D	.	.	0.447	0.78883	A	.;.;.	.;.;.	5.530069	0.91865	32	0.99932630733970518	0.99439	0.96471	0.69303	D	AEFGBI	0.783861	0.71472	D	0.733150028040288	0.81804	7.609071	0.715647168678387	0.83566	8.055639	0.999725407489171	0.42220	0.706548	0.73137	0	0.588015	0.36545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.95	5.01	0.66477	3.827000	0.55445	2.652000	0.33822	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.810000	0.38174	0.2519:0.7481:0.0:0.0	14.849	0.69917	949	0.11373	.;Low-density lipoprotein (LDL) receptor class A, conserved site;Low-density lipoprotein (LDL) receptor class A, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	226.44	37	chr11	36081727	.	C	T	226.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.621;DP=260;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.17;ReadPosRankSum=-0.78;SOR=0.399	GT:AD:DP:GQ:PL	0/1:4,10:14:78:237,0,78	6	0	1	0	.
chr11	45204793	45204793	G	T	intronic	PRDM11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	105.44	35	chr11	45204793	.	G	T	105.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.282;DP=214;ExcessHet=0;FS=3.979;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21.09;ReadPosRankSum=1.28;SOR=1.447	GT:AD:DP:GQ:PL	0/1:1,4:5:29:116,0,29	6	0	1	0	.
chr11	46369441	46369441	C	G	intronic	DGKZ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.06e-06	2.052e-06	1.367e-06	2.759e-06	1.806e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.806e-06	1.66e-05	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	70.44	36	chr11	46369441	.	C	G	70.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.834;DP=221;ExcessHet=0;FS=3.31;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=0.842;SOR=0.105	GT:AD:DP:GQ:PL	0/1:2,4:6:68:81,0,68	6	0	1	0	.
chr11	63912265	63912265	G	A	intronic	RCOR2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.564e-05	0	0	0	0	1.555e-05	0	0.0001	1.94e-05	3	154602	rs752971543	8.997e-06	1.027e-05	4.137e-06	1.389e-05	6.061e-05	5.02e-06	3.87e-06	1.004e-05	4.57e-06	6.061e-05	2.269e-05	0	0	0	0	6.375e-06	0	3.493e-05	2.631e-05	2.627e-05	1.286e-05	4.041e-05	0.0002	8.15e-06	5.15e-06	8.01e-06	3e-06	4.833e-05	0	0	0	0	0	0	1.471e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	58.44	34	chr11	63912265	.	G	A	58.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.328;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.35;ReadPosRankSum=1.72;SOR=1.179	GT:AD:DP:GQ:PL	0/1:4,3:7:69:69,0,105	6	0	1	0	.
chr11	64234021	64234021	G	A	exonic	DNAJC4	.	nonsynonymous SNV	DNAJC4:NM_001307980:exon5:c.G658A:p.E220K,DNAJC4:NM_001307981:exon5:c.G655A:p.E219K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00715823970857	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186620424	2.737e-06	2.736e-06	2.723e-06	2.751e-06	2.519e-05	6.4e-07	4.3e-07	.	.	0	0	0	2.519e-05	0	0	8.993e-07	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.19500	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.91	0.23283	T	-0.32	0.12283	N	0.206	0.22870	-0.9952	0.31245	T	0.033	0.14117	T	7	0.08141434	0.13324	T	0.007158	0.18979	T	0.016	0.02506	0.304	0.27325	0.104622674875	0.10061	0.293912324175219	0.29304	.	.	.	.	.	.	.	.	-0.449579	0.01136	T	-0.714438	0.05069	T	0.0150587609498875	0.00325	T	0.321368	0.06521	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.15025	B	.	.	0.342286	0.07159	3.741	0.89473415904511266	0.18827	0.04644	0.10314	N	AEFDGBCI	0.105587	0.21093	N	-1.04194648044503	0.07746	0.3608787	-1.0945134404302	0.07807	0.3812541	0.999999752222019	0.74766	0.789315	0.99827	0	0.685571	0.66316	0	0.768056	0.98339	0	0.554799	0.18163	0	.	.	4.13	1.22	0.20300	-0.143000	0.10278	0.007000	0.13381	-0.897000	0.02353	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3461:0.0:0.6539:0.0	5.714	0.17221	658	0.62094	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	139.44	33	chr11	64234021	.	G	A	139.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.21;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=1.72;SOR=1.329	GT:AD:DP:GQ:PL	0/1:4,6:10:86:150,0,86	6	0	1	0	.
chr11	64265358	64265358	T	C	exonic	PLCB3	.	nonsynonymous SNV	PLCB3:NM_001184883:exon23:c.T2690C:p.V897A,PLCB3:NM_000932:exon25:c.T2891C:p.V964A,PLCB3:NM_001316314:exon25:c.T2891C:p.V964A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00791294378071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.28148	T	0.493	0.16570	T	0.001	0.07471	B	0.007	0.12992	B	0.027160	0.25803	N	0.380225	0.855536	0.28433	N	1.935	0.51832	L	2.64	0.12780	T	-1.42	0.39503	N	0.116	0.10483	-1.0214	0.23259	T	0.023	0.09787	T	10	0.12211034	0.23158	T	0.007913	0.20981	T	0.018	0.03083	0.436	0.48828	0.236619781664	0.23270	0.17301067010046492	0.17221	0.299701892937	0.32337	0.529899775982	0.43020	T	0.318286	0.68968	T	-0.327762	0.06283	T	-0.708584	0.05369	T	0.0669284802218926	0.08214	T	0.470053	0.14216	T	0.0464116	0.07764	0.043541897	0.05439	0.0464116	0.07764	0.043541897	0.05438	-2.604	0.06853	T	.	.	0.099	0.25199	B	.;.;.	.;.;.	2.098279	0.26693	17.21	0.85159624612034412	0.15721	0.89068	0.49316	D	AEFBI	0.107614	0.21435	N	-0.716467483494333	0.15559	0.7851659	-0.620726352147576	0.18961	1.015243	0.885492120626384	0.25719	0.706548	0.73137	0	0.708844	0.79440	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	5.2	1.41	0.21461	0.314000	0.19182	-0.043000	0.12644	-0.137000	0.12594	0.009000	0.18154	0.538000	0.25400	0.284000	0.24115	0.0:0.1839:0.1688:0.6474	4.379	0.10717	658	0.62094	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	55.44	34	chr11	64265358	.	T	C	55.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.319;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.93;ReadPosRankSum=2.1;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,2:8:66:0|1:64265358_T_C:66,0,226:64265358	6	0	1	0	.
chr11	64265374	64265374	G	A	exonic	PLCB3	.	synonymous SNV	PLCB3:NM_001184883:exon23:c.G2706A:p.R902R,PLCB3:NM_000932:exon25:c.G2907A:p.R969R,PLCB3:NM_001316314:exon25:c.G2907A:p.R969R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.07143	55.44	34	chr11	64265374	.	G	A	55.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.712;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.93;ReadPosRankSum=1.98;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,2:8:66:0|1:64265358_T_C:66,0,226:64265358	6	0	1	0	C
chr11	65046336	65046336	G	A	exonic	NAALADL1	.	nonsynonymous SNV	NAALADL1:NM_005468:exon15:c.C1708T:p.R570W	.	426	1093	3	0	0	3	0.00137049	.	.	.	2379853	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.081	0.0322433999128	0.0002	0.000199681	7.425e-05	0	0	0	0	3.002e-05	0	0.0004	6.47e-05	10	154602	rs377372068	4.788e-05	4.788e-05	3.403e-05	6.188e-05	0.0007	3.86e-05	3.54e-05	0.0003	0.0002	0	0	0	0	0	0.0007	2.068e-05	0.0002	0.0004	3.939e-05	3.937e-05	5.139e-05	2.685e-05	0.0006	1.714e-05	1.129e-05	0.0002	8.989e-05	0	0	0	0	0	0	0	4.41e-05	0	0.0006	0.001	0.78490	D	0.002	0.83351	D	0.996	0.68779	D	0.776	0.57120	P	0.000016	0.62929	D	0.110586	0.996724	0.81001	D	3.51	0.92865	H	0.92	0.44461	T	-5.8	0.89272	D	0.68	0.68690	-0.5503	0.66775	T	0.222	0.58575	T	10	0.36838457	0.53282	T	0.032243	0.54125	D	0.352	0.67326	.	.	0.692700823852	0.69006	0.6999753470941038	0.69938	0.635986766396	0.57397	0.186677008867	0.00172	T	0.45943	0.79701	T	-0.195812	0.21409	T	-0.19708	0.54922	T	0.936217188835144	0.60504	D	0.947205	0.79675	D	0.6587317	0.75831	0.40530536	0.64934	0.6587317	0.75832	0.40530536	0.64934	-10.161	0.74870	D	.	.	0.218	0.56468	B	.;.;.;.;.	.;.;.;.;.	4.652637	0.74177	26.1	0.98808069480926564	0.46574	0.93833	0.59322	D	AEFDBI	0.402445	0.47653	N	0.344285002825177	0.58438	4.016085	0.204933568693647	0.50122	3.207494	0.993699958833654	0.33317	0.67177	0.52595	0	0.702456	0.74545	0	0.696353	0.63694	0	0.604944	0.38103	0	.	.	4.6	3.67	0.41236	2.963000	0.48877	4.897000	0.45822	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.613000	0.31716	0.0:0.0:0.8259:0.1741	12.027	0.52672	328	0.86572	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.1429	195.19	35	chr11	65046336	.	G	A	195.19	.	AC=2;AF=0.143;AN=14;DP=230;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=27.88;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,7:7:21:1|1:65046336_G_A:216,21,0:65046336	6	1	0	0	.
chr11	67219331	67219331	-	G	exonic	KDM2A	.	frameshift insertion	KDM2A:NM_012308:exon10:c.886dupG:p.N298Qfs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	34.4	33	chr11	67219331	.	T	TG	34.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=217;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.73;ReadPosRankSum=0.842;SOR=0.693	GT:AD:DP:GQ:PL	0/1:4,2:6:45:45,0,109	6	0	1	0	.
chr11	75441194	75441194	A	C	exonic	GDPD5	.	nonsynonymous SNV	GDPD5:NM_001351167:exon10:c.T1028G:p.L343R,GDPD5:NM_030792:exon14:c.T1442G:p.L481R,GDPD5:NM_001351168:exon15:c.T707G:p.L236R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.672	0.178267824743	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000456	0.44317	D	0.153558	0.999998	0.81001	D	2.87	0.83286	M	0.59	0.53943	T	-5.93	0.89029	D	0.966	0.98368	-0.2479	0.76416	T	0.355	0.71812	T	10	0.9424009	0.93565	D	0.178268	0.85345	D	0.672	0.87868	0.662	0.79996	0.816523224248	0.81480	0.9470904324278336	0.94692	1.23720955238	0.81495	0.617373645306	0.55357	T	0.597006	0.87028	D	0.316007	0.84187	D	0.216146	0.83980	D	0.99882560968399	0.95280	D	0.875712	0.58780	D	0.89838594	0.91239	0.8101276	0.88908	0.89838594	0.91240	0.8101276	0.88908	-11.466	0.82425	D	.	.	0.891	0.82660	P	.;.;.;.;.;.	.;.;.;.;.;.	5.048550	0.84074	28.2	0.99793564621305764	0.87928	0.92634	0.56174	D	AEFBCI	0.905734	0.85763	D	0.809248131552852	0.86682	8.96415	0.74245719617881	0.85593	8.626946	0.999999999425349	0.74766	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.84	4.84	0.62125	7.020000	0.76158	11.128000	0.86723	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.819000	0.38590	1.0:0.0:0.0:0.0	12.722	0.56517	723	0.55174	.;.;Glycerophosphodiester phosphodiesterase domain;Glycerophosphodiester phosphodiesterase domain;.;Glycerophosphodiester phosphodiesterase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	64.44	33	chr11	75441194	.	A	C	64.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=-0.126;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:75:0|1:75441194_A_C:75,0,120:75441194	6	0	1	0	.
chr11	89870720	89870720	C	A	exonic	TRIM64B	.	synonymous SNV	TRIM64B:NM_001164397:exon6:c.G1251T:p.V417V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.07143	148.44	35	chr11	89870720	.	C	A	148.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.869;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=36.37;MQRankSum=0.64;QD=11.42;ReadPosRankSum=-0.142;SOR=0.446	GT:AD:DP:GQ:PL	0/1:5,8:13:92:159,0,92	6	0	1	0	.
chr11	93727041	93727041	G	C	exonic	CEP295	.	nonsynonymous SNV	CEP295:NM_033395:exon24:c.G6565C:p.D2189H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.0627290268959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.65419	D	0.007	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	0.961269	0.38226	D	.	.	.	2.7	0.12162	T	-2.89	0.91741	D	0.267	0.30233	-1.1284	0.01860	T	0.074	0.29802	T	9	0.19471207	0.35294	T	0.062729	0.68745	D	0.130	0.35528	0.147	0.05039	0.0551355673512	0.04727	0.27316930415486157	0.27229	0.49495215039	0.48045	0.372965693474	0.21257	T	0.075327	0.41984	T	-0.000609525	0.51569	T	-0.238652	0.50931	T	0.934062898159027	0.60127	D	0.920608	0.71304	D	0.2534646	0.48369	0.26996863	0.52882	0.2534646	0.48369	0.26996863	0.52881	-4.275	0.27825	T	.	.	0.579	0.67990	P	.;.;.;.	.;.;.;.	3.559212	0.50069	22.9	0.9946669895051059	0.66102	0.52695	0.29193	D	AEFBCI	0.234058	0.35688	N	0.334906410481555	0.57948	3.964424	0.28076376067752	0.54418	3.606756	0.999999987646141	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.696353	0.63694	0	0.636168	0.56350	0	.	.	5.61	5.61	0.85347	1.657000	0.36981	3.395000	0.38093	0.618000	0.50648	0.111000	0.23011	1.000000	0.68203	0.885000	0.42453	0.0:0.0:1.0:0.0	15.131	0.72200	836	0.38045	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	151.44	33	chr11	93727041	.	G	C	151.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.282;DP=201;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.83;ReadPosRankSum=0.319;SOR=0.941	GT:AD:DP:GQ:PL	0/1:2,7:9:22:162,0,22	6	0	1	0	.
chr11	102625338	102625338	-	A	upstream	MMP20	dist=6	.	.	Amelogenesis imperfecta, type IIA2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.266e-06	0	0	0	0	0	0	6.069e-05	6.5e-06	1	154602	rs754251485	1.164e-05	1.163e-05	5.452e-06	1.79e-05	0.0001	7.09e-06	5.8e-06	8.003e-05	6.24e-05	0	0	0	0	0	0	3.6e-06	1.659e-05	0.0001	1.315e-05	1.313e-05	0	2.691e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	157.51	39	chr11	102625338	.	T	TA	157.51	.	AC=2;AF=0.143;AN=14;DP=231;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=31.5;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,5:5:15:178,15,0	6	1	0	0	.
chr11	117521351	117521351	G	A	exonic	DSCAML1	.	nonsynonymous SNV	DSCAML1:NM_001367904:exon6:c.C992T:p.T331M,DSCAML1:NM_001367905:exon6:c.C584T:p.T195M,DSCAML1:NM_020693:exon6:c.C992T:p.T331M	.	413	1108	1	0	0	1	0.00045106	.	.	.	1979323	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.444	0.13505435265	.	0.000199681	2.489e-05	0	8.667e-05	0	0	0	0	0.0001	2.59e-05	4	154602	rs575001357	1.779e-05	1.779e-05	1.906e-05	1.65e-05	0.0002	1.237e-05	1.051e-05	0.0001	0.0001	0	0.0002	0	5.038e-05	0	0.0002	6.295e-06	1.656e-05	4.637e-05	2.625e-05	2.624e-05	2.569e-05	2.684e-05	0.0004	8.13e-06	5.14e-06	7.285e-05	3.027e-05	0	0	6.532e-05	0	0	0	0	0	0.0005	0.0004	0.119	0.40832	T	0.047	0.49663	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-0.4	0.69287	T	-2.24	0.50175	N	0.717	0.71942	0.083	0.83853	D	0.513	0.81743	D	9	0.5451764	0.63943	D	0.135054	0.81750	D	0.444	0.74657	.	.	0.800742701777	0.79888	0.6113861446812974	0.61070	1.14625373596	0.79082	0.70240855217	0.67492	T	.	.	.	-0.0423197	0.45603	T	0.00315566	0.70540	D	0.352261543273926	0.27108	T	0.961604	0.85550	D	.	.	.	.	.	.	.	.	-7.195	0.55445	T	.	.	0.252	0.48644	B	.;.	.;.	5.417545	0.90655	31	0.99850583047632535	0.93013	0.99119	0.91505	D	AEFDBI	0.938397	0.93753	D	0.797128529342073	0.85928	8.724418	0.732013852820478	0.84808	8.396778	0.999999999952134	0.74766	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.5	4.5	0.54382	6.593000	0.73983	11.790000	0.96346	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	17.384	0.87302	892	0.26670	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1429	247.21	35	chr11	117521351	.	G	A	247.21	.	AC=2;AF=0.143;AN=14;DP=229;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=27.47;SOR=0.892	GT:AD:DP:GQ:PL	1/1:0,9:9:27:268,27,0	6	1	0	0	.
chr11	124224929	124224929	G	C	exonic	OR8G2P	.	synonymous SNV	OR8G2P:NM_001291438:exon1:c.G237C:p.L79L	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.8e-05	.	8.277e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs374014281	9.582e-06	0.0002	1.089e-05	8.257e-06	1.259e-05	5.56e-06	4.35e-06	7.31e-06	5.72e-06	0	0	0	0	0	0	1.259e-05	0	0	5.253e-05	0.0003	5.139e-05	5.373e-05	0.0008	2.556e-05	1.829e-05	0.0003	0.0002	0	0	0	0.0009	0	0	0	1.47e-05	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.07143	172.44	388	chr11	124224929	.	G	C	172.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.949;DP=2316;ExcessHet=0;FS=1.786;MLEAC=1;MLEAF=0.071;MQ=59.87;MQRankSum=-1.873;QD=5.95;ReadPosRankSum=0.645;SOR=1.214	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,6:29:99:0|1:124224922_G_A:183,0,927:124224922	6	0	1	0	.
chr11	124878634	124878634	C	T	exonic	ROBO3	.	nonsynonymous SNV	ROBO3:NM_001370361:exon5:c.C518T:p.T173M,ROBO3:NM_001370366:exon5:c.C323T:p.T108M,ROBO3:NM_001370358:exon6:c.C518T:p.T173M,ROBO3:NM_001370359:exon6:c.C518T:p.T173M,ROBO3:NM_001370364:exon6:c.C323T:p.T108M,ROBO3:NM_001370356:exon7:c.C518T:p.T173M,ROBO3:NM_001370357:exon7:c.C518T:p.T173M,ROBO3:NM_022370:exon23:c.C3371T:p.T1124M	Gaze palsy, horizontal, with progressive scoliosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2390976	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.031	0.0185969286431	.	.	3.639e-05	0	9.705e-05	0.0001	0	1.634e-05	0	6.614e-05	2.59e-05	4	154602	rs752560301	1.78e-05	1.779e-05	1.771e-05	1.789e-05	0.0001	1.238e-05	1.052e-05	4.369e-05	2.774e-05	2.989e-05	0.0001	0	2.52e-05	0	0	9.896e-06	3.314e-05	6.97e-05	3.286e-05	3.283e-05	3.854e-05	2.69e-05	4.826e-05	1.261e-05	7.98e-06	1.171e-05	6.25e-06	4.826e-05	0	0	0	0	0	0	4.409e-05	0	0	0.442	0.09346	T	0.18	0.29442	T	0.052	0.22494	B	0.007	0.12992	B	0.049390	0.01998	N	2.529250	1	0.19238	N	0.145	0.08828	N	0.13	0.60973	T	1.17	0.01121	N	0.227	0.25499	-1.0458	0.15592	T	0.071	0.28969	T	10	0.050749153	0.04854	T	0.018597	0.40717	T	0.031	0.07369	0.24	0.17218	0.436239592564	0.43243	0.061101900890250554	0.06050	0.147818603967	0.16675	0.249918758869	0.03759	T	0.029711	0.21228	T	-0.328553	0.06221	T	-0.512077	0.21101	T	0.0129890150222215	0.00225	T	0.515049	0.16594	T	0.013240479	0.00053	0.022885373	0.00307	0.013240479	0.00053	0.022885373	0.00306	-3.366	0.14602	T	.	.	0.234	0.50880	B	.;.	.;.	0.273784	0.06514	2.993	0.22766371063056065	0.00931	0.25434	0.22697	N	AEFDBCI	0.059352	0.11204	N	-1.12205456769005	0.06252	0.2873115	-1.05074997652257	0.08692	0.4285993	0.999947506372907	0.47345	0.634777	0.41761	0	0.610034	0.51514	0	0.723109	0.80598	0	0.645665	0.59343	0	.	.	4.91	-0.953	0.09834	0.836000	0.27198	.	.	-0.171000	0.11205	0.948000	0.32982	0.000000	0.08366	0.057000	0.15750	0.3047:0.2601:0.0:0.4352	3.682	0.07847	712	0.56465	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	118.55	33	chr11	124878634	.	C	T	118.55	.	AC=2;AF=0.143;AN=14;DP=220;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=23.71;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,5:5:15:139,15,0	6	1	0	0	.
chr12	1490094	1490094	T	-	exonic	ERC1	.	frameshift deletion	ERC1:NM_178039:exon18:c.3131delT:p.Q1045Rfs*4,ERC1:NM_178040:exon19:c.3215delT:p.Q1073Rfs*4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.567e-06	1.285e-05	0	6.543e-05	0	0	.	.	0	0	6.543e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	43.4	34	chr12	1490093	.	CT	C	43.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.366;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.2;ReadPosRankSum=-1.068;SOR=0.446	GT:AD:DP:GQ:PL	0/1:5,2:7:54:54,0,166	6	0	1	0	.
chr12	6516917	6516917	A	G	exonic	NCAPD2	.	synonymous SNV	NCAPD2:NM_014865:exon10:c.A1077G:p.R359R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.07143	190.44	42	chr12	6516917	.	A	G	190.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.081;DP=228;ExcessHet=0;FS=2.522;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=-0.669;SOR=0.525	GT:AD:DP:GQ:PL	0/1:4,9:13:93:201,0,93	6	0	1	0	.
chr12	11267207	11267254	GTCCCTGGGGAGGTCTGTGTGGTCTGCCCCCTTGAGGAGGTGGAGGTG	-	exonic	PRB3	.	nonframeshift deletion	PRB3:NM_006249:exon4:c.869_916del:p.P290_G305del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	64.4	36	chr12	11267206	.	TGTCCCTGGGGAGGTCTGTGTGGTCTGCCCCCTTGAGGAGGTGGAGGTG	T	64.4	.	AC=1;AF=0.071;AN=14;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.88;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,2:5:75:75,0,120	6	0	1	0	.
chr12	53104216	53104216	G	A	intronic	SOAT2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.38e-06	1.368e-06	1.374e-06	1.386e-06	3.015e-05	2.3e-07	9e-08	.	.	3.015e-05	0	0	0	0	0	0	1.672e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	64.44	38	chr12	53104216	.	G	A	64.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.253;DP=337;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.524;SOR=0.223	GT:AD:DP:GQ:PL	0/1:2,3:5:35:75,0,35	6	0	1	0	.
chr12	56311318	56311318	G	-	exonic	CNPY2	.	frameshift deletion	CNPY2:NM_014255:exon4:c.301delC:p.H101Ifs*8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	3.84e-05	1	26028	rs752925703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	39.4	34	chr12	56311317	.	TG	T	39.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.366;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.63;ReadPosRankSum=1.07;SOR=0.446	GT:AD:DP:GQ:PL	0/1:5,2:7:50:50,0,134	6	0	1	0	.
chr12	57154730	57154730	G	T	intronic	LRP1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.183838588636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.008	0.67890	D	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	-2.51	0.89293	D	-1.97	0.45587	N	0.247	0.27910	-0.7615	0.57324	T	0.395	0.74771	T	7	0.22143051	0.38867	T	0.183839	0.85711	D	0.192	0.47115	0.715	0.85051	0.332276917938	0.32835	.	.	.	.	.	.	.	0.032847	0.22665	T	-0.0992304	0.36552	T	-0.380314	0.35684	T	0.0594768895705494	0.07085	T	0.283372	0.04986	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.52614	B	.	.	0.976889	0.13539	10.07	0.8501451820192798	0.15633	0.03083	0.08002	N	AEFGBCI	0.023579	0.01334	N	-1.20073636554713	0.04990	0.2264532	-1.32273553271527	0.04137	0.1945293	0.999970022843633	0.50053	0.497415	0.19182	0	0.491513	0.07743	0	0.463624	0.06942	0	0.542086	0.14980	0	.	.	2.78	-2.98	0.05179	-0.037000	0.12116	0.757000	0.21283	-0.106000	0.15538	0.101000	0.22814	0.001000	0.17328	0.002000	0.04165	0.1211:0.0:0.2891:0.5899	5.148	0.14326	251	0.90153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	52.44	34	chr12	57154730	.	G	T	52.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.98;DP=221;ExcessHet=0;FS=3.68;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.49;ReadPosRankSum=-1.068;SOR=2.258	GT:AD:DP:GQ:PL	0/1:5,2:7:63:63,0,119	6	0	1	0	.
chr12	57191499	57191499	C	G	exonic	LRP1	.	nonsynonymous SNV	LRP1:NM_002332:exon44:c.C7416G:p.N2472K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.0155819797314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.20306	T	0.266	0.22627	T	0.005	0.12996	B	0.007	0.12992	B	0.011613	0.29466	N	0.296074	0.999953	0.19072	N	0.61	0.15665	N	-2.22	0.87038	D	-2.43	0.53258	N	0.285	0.32259	-0.7524	0.57810	T	0.337	0.70363	T	10	0.10615203	0.19656	T	0.015582	0.36391	T	0.283	0.60100	0.55	0.66576	0.530550572561	0.52702	0.9449050656557478	0.94472	.	.	0.677580535412	0.63921	T	0.270243	0.64250	T	-0.168866	0.25407	T	-0.480341	0.24409	T	0.152088835835457	0.17269	T	0.759324	0.38363	T	0.14629224	0.33497	0.110489294	0.26642	0.14629224	0.33496	0.110489294	0.26641	-8.78	0.66270	D	.	.	0.332	0.55376	B	.	.	-0.199163	0.03094	0.488	0.92517959876429756	0.21959	0.30916	0.24205	N	AEFDGBCI	0.212996	0.33862	N	-1.85757408423229	0.00419	0.01802062	-1.86639519284732	0.00569	0.02525967	0.999999807388906	0.74766	0.722319	0.85440	0	0.593476	0.48661	0	0.698795	0.65105	0	0.622129	0.49086	0	.	.	4.61	-8.45	0.00826	-2.498000	0.01045	-4.843000	0.01961	-1.138000	0.01446	0.000000	0.06391	0.000000	0.08366	0.965000	0.52897	0.0:0.5083:0.1007:0.391	11.652	0.50553	345	0.85689	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	123.44	43	chr12	57191499	.	C	G	123.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.72;DP=257;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=-0.141;SOR=1.022	GT:AD:DP:GQ:PL	0/1:8,5:13:99:134,0,184	6	0	1	0	C
chr12	57611984	57612025	GGGACGTGGTGAGTGCCAGGTCGAGAGGGTCCAGTGTTGAGT	-	exonic	ARHGEF25	.	frameshift deletion	ARHGEF25:NM_001347933:exon1:c.90_97del:p.G31Ifs*8,ARHGEF25:NM_182947:exon1:c.90_97del:p.G31Ifs*8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	52.4	37	chr12	57611983	.	GGGGACGTGGTGAGTGCCAGGTCGAGAGGGTCCAGTGTTGAGT	G	52.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=243;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.82;ReadPosRankSum=0.282;SOR=0.495	GT:AD:DP:GQ:PL	0/1:7,2:9:63:63,0,288	6	0	1	0	.
chr12	68326611	68326611	T	G	exonic	MDM1	.	nonsynonymous SNV	MDM1:NM_020128:exon3:c.A544C:p.I182L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00507703861976	.	0.000199681	8.296e-06	0	8.669e-05	0	0	0	0	0	1.29e-05	2	154602	rs201190543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.565e-06	6.561e-06	1.285e-05	0	6.533e-05	0	0	.	.	0	0	6.533e-05	0	0	0	0	0	0	0	0.694	0.04251	T	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	0.82	0.48142	T	0.21	0.04776	N	0.154	0.15888	-1.0356	0.18668	T	0.048	0.20315	T	8	0.02474925	0.00692	T	0.005077	0.12877	T	0.011	0.01250	.	.	0.0666544352282	0.05500	.	.	.	.	.	.	.	.	.	.	-0.320937	0.06821	T	-0.69878	0.05893	T	0.0321661778307838	0.02332	T	0.174083	0.01670	T	.	.	.	.	.	.	.	.	-2.827	0.08435	T	.	.	0.092	0.13456	B	.	.	0.237496	0.06179	2.630	0.64544311127919973	0.07523	0.03409	0.08530	N	AEFBI	0.054749	0.09980	N	-1.33676225070402	0.03264	0.1455118	-1.35656878220326	0.03728	0.1745436	0.989941478693917	0.31984	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	3.95	-0.828	0.10253	-0.120000	0.10633	0.119000	0.14890	-0.347000	0.05626	0.000000	0.06391	0.002000	0.18203	0.011000	0.09372	0.1429:0.2234:0.1593:0.4743	1.512	0.02347	903	0.23940	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	44.44	35	chr12	68326611	.	T	G	44.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.068;DP=258;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.55;ReadPosRankSum=0.619;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,2:8:55:0|1:68326611_T_G:55,0,235:68326611	6	0	1	0	.
chr12	68326617	68326617	A	G	exonic	MDM1	.	nonsynonymous SNV	MDM1:NM_020128:exon3:c.T538C:p.F180L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00611522196759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	.	.	.	0.017	0.17573	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	.	.	.	0.82	0.48142	T	-0.03	0.07444	N	0.146	0.14763	-1.0301	0.20422	T	0.055	0.23338	T	8	0.06753895	0.09424	T	0.006115	0.15993	T	0.019	0.03383	0.319	0.29741	0.170165803431	0.16609	.	.	.	.	.	.	.	.	.	.	-0.277543	0.10930	T	-0.636448	0.09930	T	0.0716817650396531	0.08885	T	0.220278	0.02822	T	.	.	.	.	.	.	.	.	-3.035	0.10563	T	.	.	0.681	0.72185	P	.	.	0.953710	0.13297	9.801	0.52569022911139041	0.04773	0.16092	0.19227	N	AEFBI	0.090919	0.18420	N	-0.958261530937949	0.09508	0.4503149	-0.926256625695902	0.11475	0.5848349	0.994477690944138	0.33653	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	5.01	2.38	0.28415	0.161000	0.16298	1.757000	0.28522	0.587000	0.30956	0.000000	0.06391	0.001000	0.17328	0.075000	0.16954	0.5003:0.2839:0.0:0.2158	5.137	0.14273	903	0.23940	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	44.44	35	chr12	68326617	.	A	G	44.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=258;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.55;ReadPosRankSum=0.319;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,2:8:55:0|1:68326611_T_G:55,0,235:68326611	6	0	1	0	C
chr12	100380824	100380824	T	-	exonic	SLC17A8	.	frameshift deletion	SLC17A8:NM_001145288:exon2:c.225delT:p.Y76Tfs*6,SLC17A8:NM_139319:exon2:c.225delT:p.Y76Tfs*6	Deafness, autosomal dominant 25, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	43.4	35	chr12	100380823	.	GT	G	43.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.366;DP=232;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.2;ReadPosRankSum=-0.366;SOR=0.446	GT:AD:DP:GQ:PL	0/1:5,2:7:54:54,0,166	6	0	1	0	.
chr12	103733065	103733077	GCCCACCGACCAA	-	exonic	STAB2	.	frameshift deletion	STAB2:NM_017564:exon51:c.5343_5355del:p.T1783Sfs*21	.	11	1507	3	1	0	5	0.00165618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1326855022	2.736e-06	2.736e-06	2.722e-06	2.75e-06	1.799e-06	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	3.311e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	64.4	34	chr12	103733064	.	GGCCCACCGACCAA	G	64.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=205;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-1.383;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,2:5:75:75,0,120	6	0	1	0	.
chr12	105208260	105208260	C	A	intronic	APPL2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	35.44	22	chr12	105208260	.	C	A	35.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.366;DP=197;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.43;ReadPosRankSum=-0.566;SOR=0.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,2:8:46:0|1:105208256_A_C:46,0,246:105208256	6	0	1	0	.
chr12	105208264	105208264	G	A	intronic	APPL2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.036e-07	1.369e-06	0	1.409e-06	9.289e-07	0	0	.	.	0	0	0	0	0	0	9.289e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	35.44	22	chr12	105208264	.	G	A	35.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.619;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.43;ReadPosRankSum=-1.068;SOR=0.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,2:8:46:0|1:105208256_A_C:46,0,246:105208256	6	0	1	0	C
chr12	114674766	114674766	C	T	exonic	TBX3	.	nonsynonymous SNV	TBX3:NM_005996:exon6:c.G1109A:p.C370Y,TBX3:NM_016569:exon7:c.G1169A:p.C390Y	Ulnar-mammary syndrome, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	3508271	TBX3-related_disorder	.	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.249	0.0657077233053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.783e-06	4.104e-06	2.765e-06	2.802e-06	0.0005	6.5e-07	4.4e-07	0.0001	7.568e-05	0	0	0	0	0	0.0005	0	0	1.198e-05	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.305	0.15047	T	1.0	0.01155	T	0.04	0.40458	B	0.033	0.40007	B	0.245571	0.03612	N	1.671300	0.633779	0.30676	N	0.345	0.11182	N	-2.24	0.87194	D	-1.59	0.38924	N	0.429	0.46835	-0.5693	0.66042	T	0.428	0.77075	T	10	0.19905865	0.35900	T	0.065708	0.69661	D	0.249	0.55752	0.223	0.14665	0.42491565096	0.42108	0.06319278459488357	0.06258	1.14515509009	0.79054	0.643330574036	0.59038	T	0.189811	0.54416	T	0.00476143	0.52310	T	-0.230937	0.51682	T	0.412574797868729	0.29414	T	0.764624	0.39166	T	0.17894825	0.38941	0.21561286	0.46158	0.17894825	0.38941	0.21561286	0.46157	-5.933	0.45716	T	.	.	0.126	0.26825	B	.;.	.;.	3.302847	0.45351	22.1	0.96945324467791127	0.31715	0.87079	0.46512	D	AEFDBCI	0.728982	0.67684	D	-0.131465485647192	0.36025	2.076985	0.0618153341583583	0.42646	2.583156	0.999999998100107	0.74766	0.516011	0.20929	0	0.59043	0.45803	0	0.606814	0.37721	0	0.586402	0.36253	0	.	.	5.08	5.08	0.68373	2.596000	0.45870	4.842000	0.45294	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.886000	0.42526	0.0:0.9187:0.0:0.0813	12.895	0.57485	961	0.08552	Transcription factor, T-box, region of unknown function;Transcription factor, T-box, region of unknown function	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	60.44	34	chr12	114674766	.	C	T	60.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.385;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=1.96;SOR=0.693	GT:AD:DP:GQ:PL	0/1:3,3:6:71:71,0,74	6	0	1	0	.
chr12	120178897	120178897	G	A	exonic	GCN1	.	synonymous SNV	GCN1:NM_006836:exon6:c.C480T:p.H160H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.215e-05	0	0	0.0002	0	0	0	0.0002	3.23e-05	5	154602	rs757475557	3.763e-05	3.831e-05	2.859e-05	4.676e-05	0.0008	2.96e-05	2.656e-05	0.0006	0.0005	2.987e-05	0	0	0.0008	0	0	5.396e-06	3.312e-05	0.0002	2.626e-05	2.625e-05	2.57e-05	2.685e-05	0.0004	8.14e-06	5.14e-06	6.828e-05	2.857e-05	2.405e-05	0	6.538e-05	0	0.0004	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.07143	101.44	37	chr12	120178897	.	G	A	101.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.842;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.91;ReadPosRankSum=0.431;SOR=1.609	GT:AD:DP:GQ:PL	0/1:2,4:6:31:112,0,31	6	0	1	0	.
chr12	132148918	132148918	C	0	intronic	NOC4L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	827.11	39	chr12	132148918	.	C	*	827.11	.	AC=3;AF=0.3;AN=10;BaseQRankSum=0.812;DP=286;ExcessHet=0.1336;FS=14.778;MLEAC=4;MLEAF=0.4;MQ=59.07;MQRankSum=-0.091;QD=9.29;ReadPosRankSum=-2.073;SOR=0.706	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:2,4:6:72:.:.:162,0,72:.	2	0	3	2	.
chr13	20142949	20142949	-	CTC	exonic	GJA3	.	nonframeshift insertion	GJA3:NM_021954:exon2:c.339_340insGAG:p.E113_Q114insE	Cataract 14, multiple types, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	137.4	38	chr13	20142949	.	G	GCTC	137.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.792;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.63;ReadPosRankSum=1.37;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,4:7:99:148,0,114	6	0	1	0	.
chr13	26676725	26676726	GT	-	splicing	WASF3	NM_006646:exon7:r.spl	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0004	0.0003	0.0001	0.0005	0.0003	0	0.0011	0.0003458	9	26028	rs766730218	2.605e-05	0.0005	2.182e-05	3.032e-05	8.994e-05	1.936e-05	1.696e-05	2.996e-05	1.812e-05	0	8.994e-05	0.0001	7.585e-05	1.876e-05	0	1.711e-05	4.978e-05	5.835e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	50.4	33	chr13	26676724	.	GGT	G	50.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.282;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.4;ReadPosRankSum=-0.842;SOR=0.693	GT:AD:DP:GQ:PL	0/1:4,2:6:61:61,0,139	6	0	1	0	.
chr13	32354049	32354049	-	T	intronic	BRCA2	.	.	.	Fanconi anemia, complementation group D1, Autosomal recessive;Wilms tumor, Autosomal dominant, Somatic mutation	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs979128186	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.577e-06	6.57e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	35.4	76	chr13	32354049	.	C	CT	35.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.645;DP=492;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.08;ReadPosRankSum=0;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,2:5:46:46,0,77	6	0	1	0	.
chr13	51937428	51937428	T	C	intronic	ATP7B	.	.	.	Wilson disease, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.484e-05	0	0	0	0	2.997e-05	0	6.056e-05	1.94e-05	3	154602	rs776210670	1.231e-05	1.231e-05	8.168e-06	1.65e-05	0.0009	7.7e-06	6.35e-06	0.0003	0.0002	0	0	0	0	0	0.0009	7.194e-06	4.967e-05	2.319e-05	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	91.44	73	chr13	51937428	.	T	C	91.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.24;DP=439;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-0.842;SOR=0.693	GT:AD:DP:GQ:PL	0/1:4,4:8:75:102,0,75	6	0	1	0	.
chr13	73846052	73846052	C	A	exonic	KLF12	.	nonsynonymous SNV	KLF12:NM_007249:exon4:c.G445T:p.V149L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.0144186664317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.841	0.46518	P	0.785	0.57495	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.295	0.10161	N	1.76	0.25996	T	0.33	0.03889	N	0.569	0.59223	-1.1512	0.00990	T	0.068	0.27879	T	10	0.40443444	0.55793	T	0.014419	0.34525	T	0.221	0.51721	0.141	0.04462	0.459974577466	0.45620	0.5029666526413271	0.50218	0.172866943843	0.19464	0.769081830978	0.77287	T	0.018451	0.14872	T	-0.00188421	0.51394	T	-0.240483	0.50752	T	0.782384037971497	0.45200	D	0.850515	0.53399	D	0.13013606	0.30375	0.21046701	0.45435	0.13013606	0.30374	0.21046701	0.45434	-2.63	0.06734	T	.	.	0.508	0.64956	A	.	.	3.309946	0.45477	22.1	0.98699623178065521	0.44881	0.97663	0.76248	D	AEFBI	0.638826	0.61710	D	0.268939678744004	0.54580	3.623	0.391264109455773	0.61026	4.297084	0.999999999999998	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	6.02	6.02	0.97559	4.735000	0.61746	5.941000	0.51480	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.529	0.95212	939	0.14249	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	44.44	37	chr13	73846052	.	C	A	44.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.15;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.55;ReadPosRankSum=0.703;SOR=0.818	GT:AD:DP:GQ:PL	0/1:5,3:8:55:55,0,148	6	0	1	0	.
chr13	102737670	102737670	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G13027C:p.V4343L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.296e-05	0.0009	1.28e-05	1.313e-05	3.19e-05	8.1e-06	6.68e-06	9.68e-06	7.91e-06	3.19e-05	0	0	0	0	0	1.589e-05	0	0	6.741e-06	1.989e-05	0	1.384e-05	1.492e-05	0	0	.	.	0	0	0	0	0	0	0	1.492e-05	0	0	.	.	.	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.16028	.	.	.	.	.	.	.	0.08621222	0.14631	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.08298472189106709	0.08233	.	.	0.344727694988	0.17142	T	.	.	.	-0.118802	0.33320	T	-0.408427	0.32407	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.43882	B	.	.	-0.018962	0.04151	0.996	0.36670154075650313	0.02372	0.03259	0.08291	N	AEFBI	.	.	.	.	.	.	.	.	.	0.929394545130418	0.26967	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0516762	0.10602	2.37	-0.837	0.10221	0.258000	0.18156	-2.744000	0.03406	0.581000	0.30040	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4159:0.0:0.5841	5.246	0.14815	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	71.58	97	chr13	102737670	.	C	G	71.58	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-4.049;DP=780;ExcessHet=0.3476;FS=432.914;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=0.882;SOR=8.909	GT:AD:DP:GQ:PL	0/1:8,6:14:20:20,0,104	3	0	2	2	.
chr14	20401006	20401006	C	T	exonic	TEP1	.	synonymous SNV	TEP1:NM_001319035:exon7:c.G1203A:p.A401A,TEP1:NM_007110:exon9:c.G1527A:p.A509A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.295e-05	0	0	0.0001	0	4.496e-05	0	0	2.59e-05	4	154602	rs758956716	1.231e-05	1.231e-05	1.361e-05	1.1e-05	7.557e-05	7.7e-06	6.35e-06	2.003e-05	1.055e-05	5.974e-05	2.236e-05	0	7.557e-05	0	0	8.993e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.07143	110.44	34	chr14	20401006	.	C	T	110.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.674;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.41;ReadPosRankSum=-0.21;SOR=0.707	GT:AD:DP:GQ:PL	0/1:1,5:6:18:121,0,18	6	0	1	0	.
chr14	21393975	21393975	A	G	exonic	CHD8	.	synonymous SNV	CHD8:NM_001170629:exon32:c.T5820C:p.H1940H,CHD8:NM_020920:exon32:c.T4983C:p.H1661H	.	423	1097	2	0	0	2	0.000910747	.	.	.	753969	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	2.49e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs750311902	1.505e-05	1.505e-05	8.168e-06	2.2e-05	0.0003	9.85e-06	8.41e-06	7.124e-05	5.482e-05	0	0	0	0	0	0.0003	3.598e-06	8.282e-05	0.0001	1.314e-05	1.313e-05	0	2.69e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	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	1	.	.	.	.	.	.	.	.	0.07143	275.44	41	chr14	21393975	.	A	G	275.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.56;DP=235;ExcessHet=0;FS=1.808;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=2.5;SOR=0.56	GT:AD:DP:GQ:PL	0/1:8,13:21:99:286,0,196	6	0	1	0	.
chr14	31389008	31389008	A	G	intronic	HEATR5A	.	.	.	.	.	.	.	.	.	.	.	0.0130	0.032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.38e-05	0.0002	0	0	0	0	0	0	6.5e-06	1	154602	rs751249991	6.903e-07	6.84e-07	1.372e-06	0	9.049e-07	0	0	.	.	0	0	0	0	0	0	9.049e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	55.44	44	chr14	31389008	.	A	G	55.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=263;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.93;ReadPosRankSum=0.854;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,2:8:66:0|1:31389003_C_T:66,0,246:31389003	6	0	1	0	.
chr14	39085685	39085685	T	0	intronic	SEC23A	.	.	.	Craniolenticulosutural dysplasia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	401.1	34	chr14	39085685	.	T	*	401.1	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.481;DP=337;ExcessHet=0.3476;FS=3.568;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=-0.554;SOR=1.457	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:75:0|1:39085682_TTATA_T:75,0,120:39085682	6	0	1	0	.
chr14	68421980	68421980	C	A	intronic	RAD51B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.375e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	36.44	40	chr14	68421980	.	C	A	36.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.366;DP=234;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.21;ReadPosRankSum=1.07;SOR=0.446	GT:AD:DP:GQ:PL	0/1:5,2:7:47:47,0,121	6	0	1	0	.
chr14	95209458	95209458	T	C	exonic	CLMN	.	synonymous SNV	CLMN:NM_024734:exon8:c.A822G:p.P274P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.07143	83.44	34	chr14	95209458	.	T	C	83.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.282;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.69;ReadPosRankSum=0.524;SOR=0.693	GT:AD:DP:GQ:PL	0/1:1,4:5:27:94,0,27	6	0	1	0	.
chr14	96263633	96263633	C	G	intronic	BDKRB1	.	.	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.437e-06	1.368e-06	1.418e-06	1.457e-06	9.248e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.248e-07	1.741e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	101.44	34	chr14	96263633	.	C	G	101.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.355;DP=279;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=-1.321;SOR=0.85	GT:AD:DP:GQ:PL	0/1:5,5:10:99:112,0,113	6	0	1	0	.
chr14	103135891	103135891	G	A	exonic	TNFAIP2	.	nonsynonymous SNV	TNFAIP2:NM_001371220:exon13:c.G2039A:p.R680H,TNFAIP2:NM_001371221:exon13:c.G2039A:p.R680H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00192151762021	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs760129248	1.143e-05	1.163e-05	1.38e-05	8.959e-06	0.0002	6.38e-06	4.91e-06	4.36e-06	2.03e-06	0	0	0	0	0	0.0002	7.599e-06	7.217e-05	2.625e-05	5.254e-05	5.253e-05	0.0001	0	0.0001	2.556e-05	1.829e-05	4.737e-05	3.052e-05	0.0001	0	0	0	0	0	0	4.409e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	40.44	33	chr14	103135891	.	G	A	40.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.29;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.04;ReadPosRankSum=0.253;SOR=0.693	GT:AD:DP:GQ:PL	0/1:8,2:10:51:51,0,168	6	0	1	0	.
chr14	104756546	104756546	C	T	intronic	SIVA1	.	.	.	.	423	1097	1	1	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs528053540	4.415e-05	4.79e-05	4.398e-05	4.432e-05	0.0019	3.538e-05	3.22e-05	0.0011	0.0008	0.0001	2.239e-05	3.848e-05	0	0	0.0019	2.538e-05	0.0002	9.302e-05	3.938e-05	3.937e-05	3.853e-05	4.027e-05	0.0002	1.714e-05	1.128e-05	1.171e-05	6.25e-06	2.405e-05	0	6.533e-05	0	0	0	0	4.41e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	93.44	41	chr14	104756546	.	C	T	93.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.24;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=0.816;SOR=1.609	GT:AD:DP:GQ:PL	0/1:4,4:8:75:104,0,75	6	0	1	0	.
chr15	26976960	26976960	T	C	intronic	GABRG3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.519e-05	0	0	0	0	0	0	0.0006	5.82e-05	9	154602	rs771633661	1.986e-05	1.984e-05	1.091e-05	2.891e-05	0.0003	1.394e-05	1.205e-05	0.0002	0.0002	0	0	0	0	0	0	0	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	102.44	36	chr15	26976960	.	T	C	102.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.07;ReadPosRankSum=1.28;SOR=1.609	GT:AD:DP:GQ:PL	0/1:2,4:6:61:113,0,61	6	0	1	0	.
chr15	28022561	28022561	G	C	exonic	OCA2	.	nonsynonymous SNV	OCA2:NM_000275:exon6:c.C586G:p.L196V,OCA2:NM_001300984:exon6:c.C586G:p.L196V	Albinism, brown oculocutaneous, Autosomal recessive;Albinism, oculocutaneous, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.00961356357669	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.46129	T	0.139	0.92824	T	0.51	0.37313	P	0.149	0.34106	B	0.001635	0.38439	N	0.251661	0.906065	0.27604	N	2.38	0.68558	M	0.01	0.62459	T	-0.37	0.29323	N	0.355	0.40063	-0.9951	0.31272	T	0.148	0.47308	T	10	0.24835327	0.42131	T	0.009614	0.25130	T	0.073	0.21317	0.362	0.36711	0.579757117833	0.57647	0.47673000892665995	0.47593	0.130327484436	0.14699	0.376181662083	0.21714	T	0.197223	0.55383	T	-0.0795294	0.39790	T	-0.352015	0.38973	T	0.651706695556641	0.38535	D	0.748825	0.42665	T	0.049560938	0.08819	0.053655542	0.09079	0.049560938	0.08819	0.053655542	0.09079	-5.053	0.50755	T	0.12124467306777613	0.11487	0.097	0.29116	B	.;.;.	.;.;.	2.162644	0.27555	17.50	0.99221921161575199	0.55932	0.84989	0.44088	D	AEFDBHI	0.691528	0.65149	D	-0.0643338035013437	0.38964	2.290329	0.000741057116953853	0.39750	2.361686	0.978040616955769	0.29881	0.553676	0.25195	0	0.588015	0.36545	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	4.84	2.81	0.31971	4.093000	0.57440	3.119000	0.36392	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1029:0.0:0.6011:0.2959	5.276	0.14963	940	0.13648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	83.44	35	chr15	28022561	.	G	C	83.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.65;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.69;ReadPosRankSum=-1.645;SOR=1.179	GT:AD:DP:GQ:PL	0/1:2,3:5:34:94,0,34	6	0	1	0	.
chr15	32969067	32969067	A	G	exonic	FMN1	.	synonymous SNV	FMN1:NM_001103184:exon4:c.T1965C:p.P655P,FMN1:NM_001277313:exon8:c.T2634C:p.P878P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1440378307	6.943e-06	1.1e-05	4.589e-06	9.34e-06	0.0004	3.27e-06	2.37e-06	7.033e-05	2.933e-05	0	0	0	0	0	0.0004	4.018e-06	0	3.813e-05	3.258e-05	0.0001	4.74e-05	1.681e-05	6.274e-05	1.061e-05	6.13e-06	1.039e-05	3.89e-06	6.274e-05	0	0	0	0	0.0001	0	0	0.0006	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.07143	252.44	41	chr15	32969067	.	A	G	252.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.794;DP=255;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21.04;ReadPosRankSum=0.524;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,9:12:82:263,0,82	6	0	1	0	.
chr15	39582451	39582451	G	A	exonic	THBS1	.	nonsynonymous SNV	THBS1:NM_003246:exon3:c.G326A:p.R109Q	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0022739924585	.	.	7.442e-05	0	0	0	0	9.03e-05	0	0.0002	5.82e-05	9	154602	rs760740907	5.336e-05	5.404e-05	3.131e-05	7.563e-05	0.0003	4.344e-05	4.017e-05	0.0002	0.0002	8.961e-05	8.944e-05	0.0003	2.519e-05	0	0.0003	2.698e-05	0.0001	0.0003	2.626e-05	2.625e-05	0	5.37e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.996e-05	0	0	0	0.0003	0	0	0	0	0	0.0006	0.22	0.18956	T	0.166	0.30828	T	0.005	0.12996	B	0.0	0.01387	B	0.004971	0.33218	N	0.000000	0.650671	0.32960	D	1.5	0.37844	L	4.43	0.02158	T	-0.41	0.14000	N	0.212	0.23632	-1.0296	0.20583	T	0.009	0.03011	T	10	0.08960965	0.15538	T	0.002274	0.04342	T	0.063	0.18251	.	.	0.221890330934	0.21812	0.6158812582087415	0.61520	0.501067798211	0.48504	0.336213439703	0.15870	T	0.187385	0.54097	T	-0.398812	0.02357	T	-0.536342	0.18658	T	0.077579140663147	0.09675	T	0.89491	0.63503	D	0.1914333	0.40770	0.11592842	0.27985	0.1914333	0.40770	0.11592842	0.27984	-4.366	0.29092	T	.	.	0.082	0.08851	B	.	.	3.141561	0.42488	21.5	0.99856911964105555	0.93548	0.40001	0.26339	N	AEFDBHCI	0.147263	0.27090	N	-0.06665032343	0.38862	2.282684	0.0998808446085895	0.44544	2.734033	0.999999944874239	0.74766	0.675202	0.55065	0	0.563428	0.19063	0	0.696144	0.63334	0	0.756233	0.99697	0	.	.	5.28	4.29	0.50359	2.110000	0.41497	1.756000	0.28514	0.676000	0.76740	0.996000	0.39380	0.970000	0.29701	0.998000	0.85391	0.1353:0.0:0.8647:0.0	11.654	0.50567	876	0.30350	Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	130.44	33	chr15	39582451	.	G	A	130.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.92;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=0.549;SOR=0.883	GT:AD:DP:GQ:PL	0/1:7,5:12:99:141,0,147	6	0	1	0	.
chr15	45153494	45153510	ATGTGTGTGTGTGTGTG	0	intronic	DUOX1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	1571.56	14	chr15	45153494	.	ATGTGTGTGTGTGTGTG	*	1571.56	.	AC=9;AF=0.643;AN=14;BaseQRankSum=0.385;DP=332;ExcessHet=0.3476;FS=9.557;MLEAC=9;MLEAF=0.643;MQ=60;MQRankSum=0;QD=5.78;ReadPosRankSum=0.997;SOR=1.563	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,5:5:15:1|1:45153493_AAT_A:204,15,0:45153493	1	3	3	0	.
chr15	52219725	52219725	C	T	intronic	MYO5C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	5.472e-05	0.0001	0	0	0	8.446e-05	0	0	3.88e-05	6	154602	rs376414294	2.088e-05	2.053e-05	1.871e-05	2.305e-05	2.575e-05	1.465e-05	1.266e-05	1.763e-05	1.511e-05	0	0	0	0	0	0	2.575e-05	3.456e-05	0	1.314e-05	1.313e-05	0	2.69e-05	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	101.44	33	chr15	52219725	.	C	T	101.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.589;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=1.18;SOR=1.022	GT:AD:DP:GQ:PL	0/1:4,5:9:72:112,0,72	6	0	1	0	.
chr15	66323552	66323552	C	T	exonic	DIS3L	.	nonsynonymous SNV	DIS3L:NM_001323937:exon10:c.C1256T:p.A419V,DIS3L:NM_001323940:exon10:c.C524T:p.A175V,DIS3L:NM_001323943:exon10:c.C524T:p.A175V,DIS3L:NM_001323948:exon10:c.C1454T:p.A485V,DIS3L:NM_001143688:exon11:c.C1634T:p.A545V,DIS3L:NM_001323936:exon11:c.C1385T:p.A462V,DIS3L:NM_001323938:exon11:c.C1232T:p.A411V,DIS3L:NM_001323941:exon11:c.C1232T:p.A411V,DIS3L:NM_001323944:exon11:c.C1583T:p.A528V,DIS3L:NM_001323945:exon11:c.C1385T:p.A462V,DIS3L:NM_001323946:exon11:c.C1232T:p.A411V,DIS3L:NM_133375:exon11:c.C1385T:p.A462V,DIS3L:NM_001323939:exon12:c.C1232T:p.A411V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.0286702996662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.48642	D	0.058	0.51112	T	0.87	0.47827	P	0.688	0.53700	P	0.001291	0.39521	N	0.304541	0.990122	0.81001	D	2.215	0.62545	M	0.94	0.43672	T	-2.96	0.63554	D	0.497	0.53093	-0.6049	0.64614	T	0.235	0.60246	T	10	0.6045246	0.67099	D	0.02867	0.51308	D	0.213	0.50496	0.442	0.49811	0.608043754429	0.60489	0.49086214745566503	0.49006	0.547469509892	0.51713	0.496355473995	0.38320	T	0.165612	0.51153	T	-0.0705092	0.41244	T	-0.339058	0.40450	T	0.977731049060822	0.71985	D	0.973803	0.90577	D	0.5377608	0.69271	0.38422713	0.63368	0.5377608	0.69272	0.38422713	0.63368	-10.667	0.77800	D	.	.	0.234	0.46722	B	.;.	.;.	4.134693	0.61898	24.4	0.99783263657128929	0.86955	0.90306	0.51377	D	ALL	0.662960	0.63265	D	0.220268022662979	0.52183	3.394051	0.121934391935504	0.45673	2.826307	1.0	0.98316	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	5.74	4.82	0.61641	5.917000	0.69720	7.521000	0.59763	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:0.8649:0.1351:0.0	15.939	0.79524	639	0.64210	.;Ribonuclease II/R|Ribonuclease II/R	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	43.44	33	chr15	66323552	.	C	T	43.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.497;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.62;ReadPosRankSum=2.26;SOR=0.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,2:12:54:0|1:66323552_C_T:54,0,414:66323552	6	0	1	0	.
chr15	66323557	66323557	T	C	exonic	DIS3L	.	synonymous SNV	DIS3L:NM_001323937:exon10:c.T1261C:p.L421L,DIS3L:NM_001323940:exon10:c.T529C:p.L177L,DIS3L:NM_001323943:exon10:c.T529C:p.L177L,DIS3L:NM_001323948:exon10:c.T1459C:p.L487L,DIS3L:NM_001143688:exon11:c.T1639C:p.L547L,DIS3L:NM_001323936:exon11:c.T1390C:p.L464L,DIS3L:NM_001323938:exon11:c.T1237C:p.L413L,DIS3L:NM_001323941:exon11:c.T1237C:p.L413L,DIS3L:NM_001323944:exon11:c.T1588C:p.L530L,DIS3L:NM_001323945:exon11:c.T1390C:p.L464L,DIS3L:NM_001323946:exon11:c.T1237C:p.L413L,DIS3L:NM_133375:exon11:c.T1390C:p.L464L,DIS3L:NM_001323939:exon12:c.T1237C:p.L413L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.07143	40.44	33	chr15	66323557	.	T	C	40.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.213;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.11;ReadPosRankSum=2.28;SOR=0.551	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,2:13:51:0|1:66323552_C_T:51,0,436:66323552	6	0	1	0	C
chr15	74848655	74848655	A	-	exonic	SCAMP2	.	frameshift deletion	SCAMP2:NM_005697:exon7:c.679delT:p.C227Vfs*3,SCAMP2:NM_001320778:exon8:c.808delT:p.C270Vfs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	30.4	34	chr15	74848654	.	CA	C	30.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.366;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.34;ReadPosRankSum=1.07;SOR=0.446	GT:AD:DP:GQ:PL	0/1:5,2:7:41:41,0,134	6	0	1	0	.
chr15	75356127	75356127	C	T	exonic	MAN2C1	.	synonymous SNV	MAN2C1:NM_001256496:exon23:c.G2682A:p.P894P,MAN2C1:NM_001256494:exon25:c.G3030A:p.P1010P,MAN2C1:NM_001256495:exon25:c.G2910A:p.P970P,MAN2C1:NM_006715:exon25:c.G2979A:p.P993P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	3.366e-05	0.0003	0	0	0	1.536e-05	0	0	2.59e-05	4	154602	rs371876324	1.3e-05	1.3e-05	8.17e-06	1.788e-05	5.974e-05	8.32e-06	6.7e-06	2.194e-05	1.43e-05	5.974e-05	0	0	0	0	0	1.079e-05	0	5.797e-05	2.628e-05	2.627e-05	3.854e-05	1.345e-05	7.238e-05	8.14e-06	5.14e-06	1.919e-05	1.032e-05	7.238e-05	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.07143	58.44	34	chr15	75356127	.	C	T	58.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.566;DP=213;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.35;ReadPosRankSum=-1.368;SOR=0.446	GT:AD:DP:GQ:PL	0/1:4,3:7:69:69,0,88	6	0	1	0	.
chr15	85769724	85769724	C	T	exonic	KLHL25	.	synonymous SNV	KLHL25:NM_022480:exon2:c.G87A:p.P29P	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	0.000199681	8.282e-05	9.684e-05	8.666e-05	0	0.0002	9.042e-05	0.0011	0	8.41e-05	13	154602	rs200944201	7.253e-05	7.456e-05	7.897e-05	6.602e-05	0.0003	6.115e-05	5.701e-05	6.092e-05	5.28e-05	0.0001	0.0001	0	0	0.0001	0.0003	7.014e-05	0.0001	3.478e-05	9.191e-05	9.187e-05	7.708e-05	0.0001	0.0001	5.523e-05	4.361e-05	5.842e-05	4.239e-05	9.623e-05	0	0	0	0	0.0002	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.001007	0.000000	0.002725	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	174.44	45	chr15	85769724	.	C	T	174.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.444;DP=278;ExcessHet=0;FS=2.081;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=0.224;SOR=1.061	GT:AD:DP:GQ:PL	0/1:7,8:15:99:185,0,170	6	0	1	0	.
chr15	89729020	89729020	C	T	intronic	WDR93	.	.	.	.	.	.	.	.	.	.	.	0.0432	0.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	63.44	34	chr15	89729020	.	C	T	63.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.524;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-0.524;SOR=1.179	GT:AD:DP:GQ:PL	0/1:2,3:5:34:74,0,34	6	0	1	0	.
chr15	100048970	100048970	C	T	exonic	ADAMTS17	.	synonymous SNV	ADAMTS17:NM_139057:exon18:c.G2478A:p.S826S	Weill-Marchesani-like syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1980800	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.000199681	5.767e-05	9.61e-05	0.0002	0.0002	0	2.997e-05	0	0	5.17e-05	8	154602	rs200164355	2.668e-05	2.668e-05	2.995e-05	2.338e-05	0.0002	1.997e-05	1.754e-05	0.0001	8.675e-05	0.0002	0.0001	0	7.557e-05	0	0	1.799e-05	3.311e-05	1.159e-05	9.852e-05	9.844e-05	0.0001	6.717e-05	0.0003	6.004e-05	4.878e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	4.412e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	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	1	.	.	.	.	.	.	.	.	0.1429	152.55	33	chr15	100048970	.	C	T	152.55	.	AC=2;AF=0.143;AN=14;DP=222;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.51;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,5:5:15:173,15,0	6	1	0	0	.
chr16	377685	377685	G	A	exonic	PGAP6	.	synonymous SNV	PGAP6:NM_021259:exon2:c.C285T:p.D95D	.	396	1123	3	0	0	3	0.00133393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	0.000399361	0.0002	0	0.0004	0	0	0.0002	0	0.0002	8.41e-05	13	154602	rs371810957	5.435e-05	5.883e-05	3.455e-05	7.449e-05	0.0003	4.425e-05	4.092e-05	0.0002	0.0002	9.104e-05	0.0002	0	2.616e-05	0	0.0002	3.455e-05	6.74e-05	0.0003	5.91e-05	5.905e-05	3.854e-05	8.058e-05	0.0008	3.075e-05	2.209e-05	0.0003	0.0002	0	0	0.0002	0	0	0	0	2.941e-05	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.07143	67.44	50	chr16	377685	.	G	A	67.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.792;DP=370;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=1.58;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,4:7:68:78,0,68	6	0	1	0	.
chr16	648041	648041	C	T	intronic	MCRIP2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs984665858	4.771e-06	1.166e-05	4.7e-06	4.845e-06	1.412e-05	1.72e-06	1.13e-06	9.7e-07	6.6e-07	0	0	0	0	0	0	4.152e-06	1.89e-05	1.412e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	85.44	36	chr16	648041	.	C	T	85.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.329;DP=219;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.77;ReadPosRankSum=-1.2;SOR=0.693	GT:AD:DP:GQ:PL	0/1:7,4:11:96:96,0,191	6	0	1	0	.
chr16	1668201	1668201	C	T	intronic	CRAMP1	.	.	.	.	433	1085	4	0	0	4	0.00183993	0.0002	0.006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868607341	6.91e-07	2.053e-06	0	1.388e-06	9.096e-07	0	0	.	.	0	0	0	0	0	0	9.096e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	103.44	34	chr16	1668201	.	C	T	103.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.282;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.69;ReadPosRankSum=-0.253;SOR=0.693	GT:AD:DP:GQ:PL	0/1:1,4:5:29:114,0,29	6	0	1	0	.
chr16	1911803	1911803	G	A	exonic	HS3ST6	.	synonymous SNV	HS3ST6:NM_001009606:exon2:c.C816T:p.V272V	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	0.000399361	7.453e-05	9.785e-05	0	0.0003	0	6.028e-05	0	6.072e-05	7.12e-05	11	154602	rs376367260	5.611e-05	5.609e-05	4.902e-05	6.327e-05	0.0002	4.611e-05	4.237e-05	0.0001	9.451e-05	0	0	0	0.0002	0	0	4.317e-05	0.0002	0.0002	7.219e-05	7.217e-05	0	0.0001	0.0010	3.967e-05	3.124e-05	0.0004	0.0002	7.214e-05	0	6.534e-05	0	0.0010	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.07143	65.44	42	chr16	1911803	.	G	A	65.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.842;DP=329;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=1.04;SOR=1.179	GT:AD:DP:GQ:PL	0/1:2,3:5:63:76,0,63	6	0	1	0	.
chr16	2998440	2998440	C	T	upstream	LOC101929613	dist=515	.	.	.	800	720	2	0	0	2	0.00138696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs976783340	8.905e-05	5.248e-05	9.856e-05	7.981e-05	0.0023	6.022e-05	5.069e-05	0.0006	0.0003	0	0.0001	0	0	0	0.0023	8.213e-05	0.0003	0	6.569e-05	6.562e-05	5.142e-05	8.059e-05	0.0006	3.516e-05	2.615e-05	0.0002	8.989e-05	2.407e-05	0	0.0002	0	0	0	0.0034	1.471e-05	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	35.44	36	chr16	2998440	.	C	T	35.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.22;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.54;ReadPosRankSum=-0.967;SOR=0.693	GT:AD:DP:GQ:PL	0/1:8,2:10:46:46,0,203	6	0	1	0	.
chr16	3436506	3436506	-	A	exonic	ZNF597	.	frameshift insertion	ZNF597:NM_152457:exon4:c.1192_1193insT:p.K398Ifs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	49.4	34	chr16	3436506	.	T	TA	49.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=219;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.94;ReadPosRankSum=-2.287;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,2:10:60:0|1:3436506_T_TA:60,0,330:3436506	6	0	1	0	.
chr16	3436507	3436507	T	A	exonic	ZNF597	.	stopgain	ZNF597:NM_152457:exon4:c.A1192T:p.K398X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.257439	0.15383	N	0.582312	0.999963	0.52935	D	.	.	.	.	.	.	.	.	.	0.095	0.07535	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.363346	0.87509	D	0.284145	0.87348	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.284167	0.96354	36	0.99230170997366318	0.56183	0.21584	0.21453	N	AEDBI	0.104595	0.20923	N	0.38732127303648	0.60735	4.265709	0.15539970431401	0.47428	2.973257	0.0177302049982513	0.12982	0.615465	0.37627	0	0.636889	0.57051	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	4.76	4.76	0.60189	-0.133000	0.10430	.	.	0.665000	0.62972	0.000000	0.06391	0.985000	0.30750	0.780000	0.36908	0.1817:0.0:0.0:0.8183	7.992	0.29409	666	0.61362	Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	49.44	34	chr16	3436507	.	T	A	49.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=219;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.94;ReadPosRankSum=-2.287;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,2:10:60:0|1:3436506_T_TA:60,0,330:3436506	6	0	1	0	C
chr16	4431584	4431585	TT	-	intronic	DNAJA3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0125	0.0006	0	0.0143	.	0	0	.	.	0	.	0	0	.	.	0	0.1667	.	0	9.412e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	95.39	33	chr16	4431583	.	CTT	C	95.39	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.901;DP=513;ExcessHet=0.3476;FS=2.627;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.85;ReadPosRankSum=0.765;SOR=0.904	GT:AD:DP:GQ:PL	0/1:7,2:9:49:49,0,231	6	0	1	0	.
chr16	14200622	14200622	T	G	intronic	MRTFB	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	76.44	33	chr16	14200622	.	T	G	76.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.591;DP=219;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.88;ReadPosRankSum=0.276;SOR=1.022	GT:AD:DP:GQ:PL	0/1:8,5:13:87:87,0,191	6	0	1	0	.
chr16	14246715	14246715	G	T	exonic	MRTFB	.	nonsynonymous SNV	MRTFB:NM_001365411:exon10:c.G1422T:p.L474F,MRTFB:NM_001365413:exon10:c.G1242T:p.L414F,MRTFB:NM_001365414:exon10:c.G1242T:p.L414F,MRTFB:NM_001308142:exon12:c.G1455T:p.L485F,MRTFB:NM_014048:exon12:c.G1455T:p.L485F,MRTFB:NM_001365412:exon13:c.G1455T:p.L485F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0119177124728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.14694	T	0.462	0.12526	T	0.603	0.39389	P	0.178	0.35748	B	0.825938	0.06912	N	1.086380	1	0.08975	N	.	.	.	.	.	.	-0.43	0.14390	N	0.126	0.20262	-1.0297	0.20551	T	0.069	0.28313	T	9	0.05294901	0.05408	T	0.011918	0.30017	T	0.043	0.11576	0.167	0.07186	0.128874641272	0.12493	0.3295804326600133	0.32871	0.167289057197	0.18870	0.294227004051	0.09543	T	.	.	.	-0.208466	0.19596	T	-0.537224	0.18570	T	0.0880497074665617	0.10984	T	0.69953	0.30934	T	.	.	.	.	.	.	.	.	-5.809	0.44653	T	.	.	0.073	0.04640	B	.;.;.	.;.;.	1.600173	0.20457	14.76	0.97009825456721965	0.31977	0.20917	0.21215	N	AEFBI	0.087155	0.17672	N	-0.707398047074075	0.15814	0.8002656	-0.745597326336302	0.15830	0.8345245	0.999788726659595	0.43007	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.93	2.47	0.29113	1.085000	0.30452	2.976000	0.35819	-0.106000	0.15538	0.001000	0.13787	1.000000	0.68203	0.094000	0.17991	0.3032:0.0:0.5423:0.1545	4.692	0.12168	556	0.71678	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	101.44	35	chr16	14246715	.	G	T	101.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.842;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=1.37;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,4:7:67:112,0,67	6	0	1	0	C
chr16	14247387	14247389	TGT	-	exonic	MRTFB	.	nonframeshift deletion	MRTFB:NM_001365411:exon10:c.2094_2096del:p.V700del,MRTFB:NM_001365413:exon10:c.1914_1916del:p.V640del,MRTFB:NM_001308142:exon12:c.2127_2129del:p.V711del,MRTFB:NM_001365412:exon13:c.2127_2129del:p.V711del	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.671e-05	0	8.694e-05	0	0	1.521e-05	0	0	1.94e-05	3	154602	rs750046044	3.011e-05	3.01e-05	2.723e-05	3.301e-05	0.0003	2.282e-05	2.033e-05	6.092e-05	3.272e-05	5.974e-05	2.236e-05	0	0	0	0.0003	2.608e-05	3.312e-05	9.275e-05	2.627e-05	2.626e-05	2.568e-05	2.689e-05	2.411e-05	8.14e-06	5.14e-06	.	.	2.411e-05	0	0	0	0	0.0002	0	1.469e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	187.4	35	chr16	14247386	.	CTGT	C	187.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.589;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.82;ReadPosRankSum=-1.437;SOR=1.022	GT:AD:DP:GQ:PL	0/1:4,5:9:99:198,0,153	6	0	1	0	C
chr16	16188797	16188797	C	A	intronic	ABCC6	.	.	.	Arterial calcification, generalized, of infancy, 2, Autosomal recessive;Pseudoxanthoma elasticum, Autosomal recessive;Pseudoxanthoma elasticum, forme fruste, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs867399763	8.95e-06	9.577e-06	8.211e-06	9.698e-06	0.0021	4.99e-06	3.85e-06	0.0012	0.0010	0	0	0	0	0	0.0021	9.027e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	67.44	33	chr16	16188797	.	C	A	67.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=191;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=2.19;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,4:7:53:78,0,53	6	0	1	0	.
chr16	19861808	19861808	C	A	intronic	GPRC5B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	32.44	42	chr16	19861808	.	C	A	32.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.383;DP=229;ExcessHet=0;FS=3.802;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.6;ReadPosRankSum=0;SOR=0.078	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,2:9:43:0|1:19861785_G_A:43,0,275:19861785	6	0	1	0	.
chr16	21851999	21851999	G	A	UTR5	NPIPB4	NM_001384982:c.-22C>T	.	.	.	587	932	3	0	0	3	0.00160686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0	0	0.0002	3.84e-05	1	26028	rs751185673	0.0008	0.0008	0.0008	0.0007	0.0027	0.0007	0.0007	0.0014	0.0010	0.0002	0.0006	0	0	0.0001	0.0027	0.0010	0.0008	2.856e-05	0.0009	0.0010	0.0010	0.0007	0.0016	0.0007	0.0007	0.0014	0.0013	0.0002	0	0.0006	0	0	0	0.0036	0.0016	0.0010	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	90.44	36	chr16	21851999	.	G	A	90.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.869;DP=228;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=36.19;MQRankSum=0.687;QD=6.96;ReadPosRankSum=-0.069;SOR=1.022	GT:AD:DP:GQ:PL	0/1:8,5:13:99:101,0,159	6	0	1	0	.
chr16	30525427	30525427	A	C	exonic	ZNF768	.	nonsynonymous SNV	ZNF768:NM_024671:exon2:c.T713G:p.L238R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.0177904800153	.	.	3.334e-05	0	0	0	0	4.561e-05	0.0011	0	2.59e-05	4	154602	rs774644153	2.189e-05	2.189e-05	2.178e-05	2.2e-05	2.608e-05	1.584e-05	1.356e-05	1.83e-05	1.582e-05	0	0	0	0	0	0	2.608e-05	4.967e-05	0	1.971e-05	1.97e-05	1.284e-05	2.69e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.006	0.61437	D	0.43	0.13713	T	0.141	0.27581	B	0.019	0.18783	B	0.003293	0.35154	N	0.000000	1	0.08975	N	0.55	0.14455	N	3.19	0.07599	T	0.73	0.02068	N	0.84	0.83576	-0.9935	0.31696	T	0.013	0.04985	T	10	0.5821323	0.65908	D	0.01779	0.39625	T	0.213	0.50496	0.507	0.60232	0.778744008053	0.77670	0.40248590031979925	0.40164	1.98523485117	0.93674	0.752193927765	0.74770	T	0.014533	0.12356	T	0.020955	0.54511	T	-0.100019	0.63396	T	0.254509329795837	0.23074	T	0.475652	0.14239	T	0.1761409	0.38510	0.18008094	0.40784	0.1761409	0.38510	0.18008094	0.40783	-4.113	0.25481	T	.	.	0.154	0.38227	B	.;.	.;.	4.190628	0.63158	24.5	0.99532216436560805	0.69963	0.14139	0.18243	N	AEFDBHCI	0.071594	0.14258	N	-0.497621807296707	0.22159	1.181218	-0.377974356664632	0.25655	1.412192	0.999999989473997	0.74766	0.718356	0.82227	0	0.606735	0.50208	0	0.570548	0.19454	0	0.636168	0.56350	0	.	.	5.15	5.15	0.70287	5.012000	0.63775	9.205000	0.79205	0.756000	0.94297	0.394000	0.26121	1.000000	0.68203	0.938000	0.47775	0.8337:0.1663:0.0:0.0	10.248	0.42532	243	0.90483	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	66.44	39	chr16	30525427	.	A	C	66.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.524;DP=228;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0.524;SOR=1.179	GT:AD:DP:GQ:PL	0/1:2,3:5:34:77,0,34	6	0	1	0	.
chr16	31325336	31325377	TCCTACAGGACACAGGTCACCTTCTTCTTCCCGCTTGACCTG	-	exonic	ITGAM	.	nonframeshift deletion	ITGAM:NM_000632:exon20:c.2437_2478del:p.T816_R829del,ITGAM:NM_001145808:exon20:c.2440_2481del:p.T817_R830del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	37.4	35	chr16	31325335	.	CTCCTACAGGACACAGGTCACCTTCTTCTTCCCGCTTGACCTG	C	37.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.085;DP=398;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=2.67;ReadPosRankSum=1.09;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,2:14:48:0|1:31325335_CTCCTACAGGACACAGGTCACCTTCTTCTTCCCGCTTGACCTG_C:48,0,489:31325335	6	0	1	0	.
chr16	50669119	50669119	A	G	exonic	SNX20	.	synonymous SNV	SNX20:NM_153337:exon4:c.T312C:p.T104T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.3571	478.09	34	chr16	50669119	.	A	G	478.09	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.524;DP=774;ExcessHet=4.7409;FS=131.069;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=0.72;ReadPosRankSum=0.997;SOR=9.308	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:3,2:5:28:.:.:28,0,78:.	2	0	5	0	.
chr16	66885164	66885164	-	A	exonic	PDP2	.	frameshift insertion	PDP2:NM_001329929:exon2:c.881dupA:p.E295Rfs*14,PDP2:NM_001329930:exon2:c.881dupA:p.E295Rfs*14,PDP2:NM_001329931:exon2:c.881dupA:p.E295Rfs*14,PDP2:NM_001329934:exon2:c.881dupA:p.E295Rfs*14,PDP2:NM_020786:exon2:c.881dupA:p.E295Rfs*14,PDP2:NM_001329928:exon3:c.881dupA:p.E295Rfs*14,PDP2:NM_001329932:exon3:c.881dupA:p.E295Rfs*14,PDP2:NM_001329933:exon3:c.881dupA:p.E295Rfs*14	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	104.4	33	chr16	66885164	.	C	CA	104.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.559;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=0.819;SOR=0.446	GT:AD:DP:GQ:PL	0/1:5,4:9:99:115,0,151	6	0	1	0	.
chr16	67390378	67390378	T	G	intronic	TPPP3	.	.	.	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	70.44	36	chr16	67390378	.	T	G	70.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.834;DP=211;ExcessHet=0;FS=3.31;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=0;SOR=0.105	GT:AD:DP:GQ:PL	0/1:2,4:6:66:81,0,66	6	0	1	0	.
chr16	71922689	71922689	A	0	intronic	IST1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	10533.3	61	chr16	71922689	.	A	*	10533.3	.	AC=4;AF=0.286;AN=14;BaseQRankSum=2.71;DP=564;ExcessHet=0.0921;FS=2.094;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=22.32;ReadPosRankSum=1.01;SOR=0.908	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,7:7:21:.:.:315,21,0:.	4	1	2	0	.
chr16	81159780	81159780	C	T	exonic	PKD1L2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.373e-06	1.368e-06	2.729e-06	0	1.802e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.802e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	165.19	34	chr16	81159780	.	C	T	165.19	.	AC=2;AF=0.143;AN=14;DP=321;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=23.6;SOR=0.941	GT:AD:DP:GQ:PL	1/1:0,7:7:21:186,21,0	6	1	0	0	.
chr16	81160798	81160798	C	-	exonic	PKD1L2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.491e-05	0.0003	0	0	0	0	0	0	1.94e-05	3	154602	rs768091412	7.526e-06	7.525e-06	8.168e-06	6.877e-06	0.0003	4.04e-06	2.95e-06	0.0002	0.0001	0.0003	2.236e-05	0	0	0	0	0	0	0	9.859e-05	9.851e-05	8.995e-05	0.0001	0.0004	6.008e-05	4.881e-05	0.0002	0.0002	0.0004	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	31.4	37	chr16	81160797	.	TC	T	31.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.282;DP=252;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.49;ReadPosRankSum=-1.085;SOR=0.495	GT:AD:DP:GQ:PL	0/1:7,2:9:42:42,0,208	6	0	1	0	C
chr16	86541203	86541203	A	G	intronic	MTHFSD	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	60.44	33	chr16	86541203	.	A	G	60.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=298;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=-1.111;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,2:6:71:0|1:86541203_A_G:71,0,162:86541203	6	0	1	0	.
chr16	88697549	88697549	C	T	UTR3	RNF166	NM_001171816:c.*19G>A;NM_001171815:c.*19G>A;NM_178841:c.*19G>A	.	.	.	424	1090	4	1	3	9	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.2e-05	.	0.0003	0.0004	0	0	0	0.0005	0	0	9.7e-05	15	154602	rs368455644	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0002	0.0004	0.0003	6.358e-05	0.0006	7.965e-05	0.0002	0.0026	0.0007	8.566e-05	0.0003	3.801e-05	0.0004	0.0004	0.0003	0.0006	0.0014	0.0003	0.0003	0.0006	0.0005	0.0002	0	0.0003	0	0.0014	0.0032	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	53.44	36	chr16	88697549	.	C	T	53.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.674;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0;SOR=1.609	GT:AD:DP:GQ:PL	0/1:3,2:5:64:64,0,76	6	0	1	0	.
chr17	740491	740491	T	C	intronic	TLCD3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.864e-07	1.368e-06	1.367e-06	0	9.03e-07	0	0	.	.	0	0	0	0	0	0	9.03e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	61.44	37	chr17	740491	.	T	C	61.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=0.842;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,2:6:72:0|1:740491_T_C:72,0,142:740491	6	0	1	0	.
chr17	740498	740498	T	C	intronic	TLCD3A	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	3.295e-05	9.614e-05	0	0	0	4.496e-05	0	0	2.59e-05	4	154602	rs377604831	2.465e-05	2.531e-05	2.044e-05	2.89e-05	3.241e-05	1.805e-05	1.602e-05	2.372e-05	2.105e-05	0	0	0	0	0	0	3.241e-05	0	0	2.628e-05	2.626e-05	2.569e-05	2.689e-05	4.825e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.825e-05	0	0	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	61.44	37	chr17	740498	.	T	C	61.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=0.524;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,2:6:72:0|1:740491_T_C:72,0,142:740491	6	0	1	0	C
chr17	4445108	4445108	G	T	exonic	SPNS3	.	nonsynonymous SNV	SPNS3:NM_182538:exon3:c.G342T:p.M114I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0218023767935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.093	0.39799	T	0.121	0.26708	B	0.122	0.32387	B	0.000184	0.48115	D	0.177041	0.998981	0.81001	D	1.03	0.25572	L	0.39	0.57419	T	-2.28	0.50830	N	0.384	0.42541	-0.9659	0.38033	T	0.118	0.41429	T	10	0.3567384	0.52406	T	0.021802	0.44617	T	0.102	0.29158	0.644	0.78117	0.281381271821	0.27740	0.4689228101294111	0.46811	0.215052530456	0.24039	0.388999402523	0.23529	T	0.219707	0.58278	T	-0.0933164	0.37527	T	-0.371819	0.36677	T	0.906210958957672	0.56017	D	0.660434	0.26965	T	0.43777785	0.63259	0.37441382	0.62607	0.43777785	0.63259	0.37441382	0.62607	-7.396	0.56876	T	.	.	0.263	0.49750	B	.	.	2.828218	0.37279	20.5	0.99050888627883249	0.51253	0.88104	0.47887	D	AEFDGBHCI	0.732908	0.67952	D	-0.273609210036551	0.30171	1.679828	-0.192656345341791	0.31806	1.803428	0.9999801222151	0.51787	0.516011	0.20929	0	0.610034	0.51514	0	0.59043	0.30614	0	0.631631	0.49550	0	.	.	4.51	3.51	0.39297	5.392000	0.66020	6.489000	0.55755	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.055000	0.15596	0.0:0.1665:0.8335:0.0	12.815	0.57040	716	0.55970	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	44.44	33	chr17	4445108	.	G	T	44.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.05;DP=217;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.7;ReadPosRankSum=0.802;SOR=1.08	GT:AD:DP:GQ:PL	0/1:9,3:12:55:55,0,189	6	0	1	0	.
chr17	4545211	4545211	C	A	intronic	MYBBP1A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.513e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs753889303	1.78e-05	1.779e-05	1.226e-05	2.339e-05	0.0002	1.238e-05	1.052e-05	9.792e-05	7.838e-05	0	0	0	0	0	0	8.094e-06	4.969e-05	0.0002	6.583e-06	6.568e-06	1.287e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	157.51	37	chr17	4545211	.	C	A	157.51	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=236;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=22.5;ReadPosRankSum=-0.366;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,6:7:4:0|1:4545211_C_A:168,0,4:4545211	6	0	1	0	.
chr17	5183886	5183886	T	C	exonic	ZNF594	.	nonsynonymous SNV	ZNF594:NM_032530:exon2:c.A371G:p.N124S	.	428	1091	3	0	0	3	0.001373	.	.	.	3635846	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.138	0.00170710645567	.	.	3.322e-05	0	0	0	0	1.503e-05	0	0.0002	2.59e-05	4	154602	rs757679321	3.353e-05	3.352e-05	3.132e-05	3.577e-05	0.0003	2.567e-05	2.313e-05	0.0002	0.0002	0	2.241e-05	0	0	0	0.0003	9.893e-06	9.941e-05	0.0003	4.595e-05	4.593e-05	3.854e-05	5.369e-05	0.0004	2.107e-05	1.526e-05	7.29e-05	3.029e-05	0	0	0	0	0	0	0.0068	4.41e-05	0	0.0004	0.014	0.53172	D	0.006	0.70582	D	0.276	0.31942	B	0.026	0.20792	B	.	.	.	.	0.999781	0.20372	N	0.69	0.16971	N	2.48	0.14657	T	-0.31	0.12099	N	0.041	0.02759	-0.9879	0.33126	T	0.015	0.06234	T	9	0.07601094	0.11819	T	0.001707	0.02856	T	0.138	0.37187	0.389	0.41115	0.21737058555	0.21362	0.0033473666600997193	0.00312	0.0144286539198	0.01369	0.274242013693	0.06702	T	8.5E-4	0.00427	T	-0.557597	0.00262	T	-0.759291	0.03138	T	0.056250497148511	0.06565	T	0.770023	0.39993	T	0.061879873	0.12862	0.07795803	0.17416	0.061879873	0.12862	0.07795803	0.17415	-4.192	0.26635	T	.	.	0.076	0.05935	B	.;.	.;.	2.011332	0.25557	16.81	0.77655837844794007	0.11967	0.03825	0.09167	N	AEBCI	0.317289	0.42132	N	-0.708949456640249	0.15769	0.79765	-0.73181531156047	0.16170	0.8541429	0.00165822802520911	0.08750	0.554377	0.28877	0	0.601575	0.49859	0	0.54472	0.12158	0	0.567892	0.33627	0	.	.	2.37	1.26	0.20534	3.586000	0.53696	1.214000	0.24928	0.665000	0.62972	0.995000	0.38783	0.003000	0.18671	0.003000	0.05239	0.0:0.1547:0.0:0.8453	5.409	0.15639	523	0.74147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	133.44	45	chr17	5183886	.	T	C	133.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.18;DP=260;ExcessHet=0;FS=6.854;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.83;ReadPosRankSum=-0.12;SOR=1.872	GT:AD:DP:GQ:PL	0/1:4,5:9:99:144,0,102	6	0	1	0	.
chr17	10303286	10303286	C	G	exonic	MYH13	.	nonsynonymous SNV	MYH13:NM_003802:exon39:c.G5577C:p.E1859D	.	420	1086	3	0	13	16	0.00137931	.	.	.	2218172	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.203	0.0225051242979	7.8e-05	.	0.0001	0	0	0	0	1.499e-05	0	0.0007	9.06e-05	14	154602	rs372224078	9.03e-05	9.029e-05	6.67e-05	0.0001	0.0024	7.756e-05	7.299e-05	0.0015	0.0012	0	0.0004	7.652e-05	0	0	0.0024	1.888e-05	0.0002	0.0007	5.913e-05	5.906e-05	2.571e-05	9.407e-05	0.0006	3.077e-05	2.21e-05	0.0002	9.007e-05	2.407e-05	0	0.0003	0	0	0	0	1.471e-05	0	0.0006	0.05	0.39575	D	0.265	0.22694	T	0.092	0.25296	B	0.246	0.38861	B	.	.	.	.	0.992	0.23951	N	1.84	0.48285	L	-1.47	0.81067	T	-1.68	0.40082	N	0.259	0.33578	-0.6439	0.62979	T	0.374	0.73265	T	9	0.06759086	0.09438	T	0.022505	0.45406	T	0.203	0.48915	0.742	0.87401	0.553672381021	0.55024	0.25265911101417526	0.25179	0.473008986637	0.46537	0.542987108231	0.44868	T	0.219543	0.58258	T	-0.367911	0.03700	T	-0.379242	0.35812	T	0.104151883513963	0.12807	T	0.821218	0.48050	T	0.10100979	0.23857	0.12381383	0.29852	0.10100979	0.23857	0.12381383	0.29851	-5.661	0.43344	T	.	.	0.149	0.32992	B	.;.;.	.;.;.	2.183880	0.27838	17.60	0.98945205653397073	0.49016	0.32939	0.24707	N	AEFBI	0.498294	0.53246	N	-0.6567653276493	0.17263	0.8868456	-0.627821792978627	0.18780	1.004707	5.86033939185107E-6	0.01202	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.81	1.79	0.23992	-0.578000	0.05933	-0.418000	0.09303	-0.177000	0.10537	0.054000	0.21560	0.059000	0.21998	0.965000	0.52897	0.0:0.5685:0.182:0.2495	4.696	0.12186	90	0.96275	Myosin tail;Myosin tail;Myosin tail	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.07143	79.44	35	chr17	10303286	.	C	G	79.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.398;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.83;ReadPosRankSum=-0.725;SOR=1.179	GT:AD:DP:GQ:PL	0/1:5,4:9:90:90,0,113	6	0	1	0	.
chr17	10496373	10496373	G	A	exonic	MYH1	.	synonymous SNV	MYH1:NM_005963:exon34:c.C4833T:p.S1611S	.	0	1517	5	0	0	5	0.00164528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	4.118e-05	0	8.637e-05	0	0	5.993e-05	0	0	6.5e-06	1	154602	rs140601643	1.368e-05	1.368e-05	1.361e-05	1.375e-05	6.708e-05	8.94e-06	7.26e-06	1.779e-05	8.93e-06	2.987e-05	6.708e-05	0	5.038e-05	0	0	1.169e-05	1.656e-05	0	3.946e-05	3.939e-05	3.859e-05	4.036e-05	0.0004	1.717e-05	1.13e-05	6.855e-05	2.867e-05	4.821e-05	0	0	0	0.0004	0	0	2.942e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.07143	94.44	34	chr17	10496373	.	G	A	94.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.24;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=55.7;MQRankSum=-2.45;QD=11.8;ReadPosRankSum=0.566;SOR=1.609	GT:AD:DP:GQ:PL	0/1:4,4:8:75:105,0,75	6	0	1	0	.
chr17	17793239	17793239	C	T	exonic	RAI1	.	synonymous SNV	RAI1:NM_030665:exon3:c.C291T:p.F97F	Smith-Magenis syndrome, Autosomal dominant, Isolated cases	.	.	.	.	.	.	.	.	.	.	3149839	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	2.723e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs775927428	1.028e-05	1.026e-05	5.453e-06	1.515e-05	0.0002	6.17e-06	4.89e-06	0.0001	8.658e-05	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	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	1	.	.	.	.	.	.	.	.	0.07143	66.44	36	chr17	17793239	.	C	T	66.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.728;DP=336;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.64;ReadPosRankSum=1.69;SOR=0.892	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,3:10:77:0|1:17793217_G_C:77,0,189:17793217	6	0	1	0	.
chr17	18245505	18245505	A	C	intronic	FLII	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.416e-05	0	0	0.0009	0	0	0.0011	0	5.82e-05	9	154602	rs773372381	4.662e-05	4.72e-05	5.047e-05	4.273e-05	0.0005	3.736e-05	3.419e-05	0.0003	0.0003	0	2.237e-05	3.829e-05	0.0005	0	0	1.442e-05	0.0005	2.32e-05	5.258e-05	5.254e-05	3.855e-05	6.727e-05	0.0012	2.558e-05	1.831e-05	0.0005	0.0003	0	0	0	0	0.0012	0	0	2.941e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	190.44	35	chr17	18245505	.	A	C	190.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.157;DP=240;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=23.81;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PL	0/1:1,7:8:16:201,0,16	6	0	1	0	.
chr17	28552077	28552077	A	-	UTR5	UNC119	NM_001330166:c.-3437delT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.928e-06	2.669e-06	4.201e-06	0	3.024e-05	0	0	.	.	0	3.024e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	36.4	34	chr17	28552076	.	GA	G	36.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.366;DP=202;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.2;ReadPosRankSum=-1.309;SOR=0.446	GT:AD:DP:GQ:PL	0/1:5,2:7:47:47,0,146	6	0	1	0	.
chr17	38322493	38322493	C	T	intronic	MRPL45	.	.	.	.	437	1084	0	1	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.714e-05	0	0	0	0.0002	1.659e-05	0	0.0001	2.59e-05	4	154602	rs755868660	1.509e-05	1.915e-05	6.825e-06	2.344e-05	0.0014	9.88e-06	8.44e-06	0.0007	0.0005	2.998e-05	0	0	0	0	0.0014	8.11e-06	1.661e-05	4.652e-05	1.972e-05	1.969e-05	0	4.033e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	6.547e-05	0	0	0	0	1.471e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	93.44	35	chr17	38322493	.	C	T	93.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.566;DP=202;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=0.405;SOR=0.693	GT:AD:DP:GQ:PL	0/1:4,4:8:99:104,0,109	6	0	1	0	.
chr17	40193736	40193736	A	G	exonic	RAPGEFL1	.	nonsynonymous SNV	RAPGEFL1:NM_001303533:exon15:c.A1484G:p.N495S,RAPGEFL1:NM_001303534:exon15:c.A1466G:p.N489S,RAPGEFL1:NM_016339:exon15:c.A1937G:p.N646S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0329810970388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.23007	T	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.65	0.27650	T	-3.0	0.62343	D	0.306	0.34552	-0.8063	0.54772	T	0.186	0.53646	T	10	0.21048144	0.37445	T	0.032981	0.54655	D	0.160	0.41473	0.382	0.39970	0.082315109003	0.07666	0.4491345634704637	0.44831	.	.	0.635720670223	0.57957	T	0.103016	0.43304	T	-0.066179	0.41935	T	-0.332838	0.41152	T	0.980366289615631	0.73320	D	0.811219	0.46271	T	.	.	.	.	.	.	.	.	-6.867	0.55832	T	.	.	0.224	0.51934	B	.;.;.;.	.;.;.;.	4.722235	0.75979	26.4	0.99841872862950687	0.92229	0.97137	0.72907	D	AEFDGBI	0.671364	0.63813	D	0.622795257325815	0.74617	6.163467	0.620783962928401	0.76453	6.493449	0.999999995304286	0.74766	0.722319	0.85440	0	0.659037	0.61890	0	0.698795	0.65105	0	0.635551	0.53088	0	.	.	5.48	5.48	0.80675	4.777000	0.62054	11.265000	0.91209	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	14.559	0.67711	260	0.89800	.;Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;.;Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	102.44	35	chr17	40193736	.	A	G	102.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.355;DP=235;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=-0.298;SOR=0.85	GT:AD:DP:GQ:PL	0/1:5,5:10:99:113,0,109	6	0	1	0	.
chr17	41690169	41690169	A	-	exonic	EIF1	.	frameshift deletion	EIF1:NM_005801:exon3:c.277delA:p.I93Yfs*6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	37.4	34	chr17	41690168	.	CA	C	37.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.23;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.4;ReadPosRankSum=0.473;SOR=0.527	GT:AD:DP:GQ:PL	0/1:9,2:11:48:48,0,330	6	0	1	0	.
chr17	41871665	41871665	T	-	intronic	ACLY	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	32.4	40	chr17	41871664	.	CT	C	32.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.068;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.63;ReadPosRankSum=1.07;SOR=0.446	GT:AD:DP:GQ:PL	0/1:5,2:7:43:43,0,137	6	0	1	0	.
chr17	49405013	49405013	C	A	exonic	PHB	.	synonymous SNV	PHB:NM_001281497:exon6:c.G447T:p.V149V,PHB:NM_001281496:exon7:c.G798T:p.V266V,PHB:NM_002634:exon7:c.G798T:p.V266V,PHB:NM_001281715:exon8:c.G798T:p.V266V	.	0	1518	4	0	0	4	0.00131579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.866e-05	0	0	0	0	0.0001	0	0.0001	3.23e-05	5	154602	rs758887385	8.62e-05	8.414e-05	7.455e-05	9.815e-05	0.0016	7.361e-05	6.892e-05	0.0008	0.0006	0	5.545e-05	0	0	0	0.0016	8.323e-05	0.0002	0.0001	3.282e-05	3.281e-05	3.854e-05	2.685e-05	4.809e-05	1.26e-05	7.97e-06	7.97e-06	2.98e-06	4.809e-05	0	0	0	0	0	0.0034	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.003808	0.000000	0.004098	0.000000	0.000000	0.000000	0.016129	0.000000	0.07143	64.44	37	chr17	49405013	.	C	A	64.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.524;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=-1.036;SOR=1.179	GT:AD:DP:GQ:PL	0/1:2,3:5:34:75,0,34	6	0	1	0	.
chr17	50465849	50465849	C	T	exonic	CHAD	.	nonsynonymous SNV	CHAD:NM_001267:exon2:c.G796A:p.G266S	.	436	1085	1	0	0	1	0.000460617	.	.	.	2367580	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.292	0.0136850351966	.	0.000199681	8.237e-06	0	8.637e-05	0	0	0	0	0	1.29e-05	2	154602	rs185669452	1.779e-05	1.779e-05	1.77e-05	1.788e-05	0.0009	1.237e-05	1.051e-05	0.0003	0.0003	0.0005	2.236e-05	0	0	0	0.0009	0	4.967e-05	0	0.0001	0.0001	0.0001	9.442e-05	0.0003	6.529e-05	5.337e-05	0.0002	0.0002	0.0003	0	6.564e-05	0	0	0	0	0	0.0005	0	0.008	0.58626	D	0.171	0.30339	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.195	0.30194	L	3.63	0.04353	T	-4.1	0.74900	D	0.432	0.47301	-1.1912	0.00229	T	0.043	0.18576	T	10	0.38955295	0.54791	T	0.013685	0.33266	T	0.292	0.61157	.	.	0.718586594058	0.71611	0.6160838301256968	0.61540	1.20088527153	0.80543	0.725880682468	0.70905	T	0.205932	0.56513	T	0.0463719	0.57874	T	-0.0883011	0.64289	T	0.987503111362457	0.77986	D	0.883312	0.60567	D	0.7793842	0.82616	0.57680494	0.75480	0.7793842	0.82618	0.57680494	0.75480	-5.803	0.44600	T	.	.	0.537	0.66709	A	.;.	.;.	4.908930	0.80750	27.4	0.99892228817636042	0.96589	0.98109	0.79674	D	AEFDGBI	0.891217	0.82698	D	0.699320229247643	0.79588	7.109398	0.686082269720067	0.81322	7.499498	0.999999999982794	0.74766	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	4.97	4.97	0.65419	5.775000	0.68569	7.660000	0.64180	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.424	0.90551	894	0.26265	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	66.44	35	chr17	50465849	.	C	T	66.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.524;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=1.04;SOR=1.179	GT:AD:DP:GQ:PL	0/1:2,3:5:34:77,0,34	6	0	1	0	.
chr17	58304395	58304395	G	T	exonic	TSPOAP1	.	nonsynonymous SNV	TSPOAP1:NM_024418:exon30:c.C5369A:p.T1790K,TSPOAP1:NM_001261835:exon31:c.C5522A:p.T1841K,TSPOAP1:NM_004758:exon31:c.C5549A:p.T1850K	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.0194287052185	.	.	.	.	.	.	.	.	.	.	.	.	.	rs201347578	6.845e-07	6.841e-07	1.362e-06	0	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	6.573e-06	6.568e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.002	0.72154	D	0.212	0.26549	T	0.688	0.41582	P	0.148	0.34065	B	.	.	.	.	1	0.81001	D	2.075	0.57047	M	3.66	0.04267	T	-0.95	0.25332	N	0.399	0.43995	-0.8433	0.52426	T	0.009	0.03271	T	9	0.14831519	0.28089	T	0.019429	0.41790	T	0.031	0.07369	0.28	0.23483	0.323886383625	0.31992	0.42843843382245383	0.42760	0.32203709392	0.34400	0.539078474045	0.44316	T	0.012092	0.10690	T	-0.153484	0.27767	T	-0.458246	0.26790	T	0.437036510258988	0.30320	T	0.751925	0.37414	T	0.15880954	0.35708	0.15426868	0.36213	0.15880954	0.35708	0.15426868	0.36213	-3.224	0.12776	T	.	.	0.175	0.39832	B	.;.;.	.;.;.	2.270407	0.29022	17.99	0.97295524277120793	0.33252	0.32541	0.24610	N	AEFDGBHCI	0.336285	0.43445	N	-0.239186249697593	0.31538	1.769379	-0.169628029975739	0.32661	1.860363	0.999999999997169	0.74766	0.696267	0.57585	0	0.637152	0.57089	0	0.459711	0.06710	0	0.691587	0.68394	0	.	.	5.22	0.387	0.15484	0.449000	0.21459	-0.347000	0.09772	0.604000	0.46097	1.000000	0.71638	0.003000	0.18671	0.999000	0.91618	0.3659:0.1939:0.4403:0.0	3.519	0.07294	310	0.87484	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	127.25	34	chr17	58304395	.	G	T	127.25	.	AC=2;AF=0.143;AN=14;DP=227;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=21.21;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,6:6:18:148,18,0	6	1	0	0	.
chr17	78214417	78214417	C	-	exonic	BIRC5	.	frameshift deletion	BIRC5:NM_001012270:exon1:c.101delC:p.P35Rfs*46,BIRC5:NM_001012271:exon1:c.101delC:p.P35Rfs*85,BIRC5:NM_001168:exon1:c.101delC:p.P35Rfs*40	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	31.4	34	chr17	78214416	.	AC	A	31.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.812;DP=257;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.49;ReadPosRankSum=0;SOR=0.495	GT:AD:DP:GQ:PL	0/1:7,2:9:42:42,0,208	6	0	1	0	.
chr17	78492729	78492729	T	G	exonic	DNAH17	.	nonsynonymous SNV	DNAH17:NM_173628:exon42:c.A6445C:p.K2149Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.0234617442024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	6.84e-07	0	1.377e-06	1.163e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.163e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.810899	0.29002	N	.	.	.	1.04	0.40218	T	.	.	.	0.303	0.34228	-0.8144	0.54282	T	0.181	0.52889	T	7	0.28432316	0.46014	T	0.023462	0.46421	T	0.113	0.31778	.	.	0.194818534648	0.19098	0.46483694420414756	0.46402	.	.	0.584488272667	0.50717	T	.	.	.	-0.207438	0.19742	T	-0.535747	0.18716	T	0.582715534760407	0.35723	D	0.880912	0.59977	D	0.1419046	0.32679	0.15484706	0.36324	0.1419046	0.32679	0.15484706	0.36323	-12.003	0.84866	D	0.4155911409026748	0.50519	0.103	0.18580	B	.;.	.;.	4.063719	0.60331	24.2	0.99418634036194242	0.63645	0.90918	0.52509	D	AEFDBI	0.593922	0.58906	D	0.184182615442268	0.50440	3.233949	0.179895007034478	0.48745	3.08647	0.243099970432267	0.18594	0.634777	0.41761	0	0.643519	0.57511	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.74	3.64	0.40864	3.883000	0.55880	4.148000	0.42131	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.762000	0.36218	0.0:0.0:0.1521:0.8479	11.355	0.48848	908	0.22609	ATPase, dynein-related, AAA domain;ATPase, dynein-related, AAA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	67.44	33	chr17	78492729	.	T	G	67.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.792;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=-1.465;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,4:7:69:78,0,69	6	0	1	0	.
chr17	78558165	78558165	G	T	exonic	DNAH17	.	nonsynonymous SNV	DNAH17:NM_173628:exon14:c.C2121A:p.N707K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.0211349575287	.	.	8.484e-06	0	8.983e-05	0	0	0	0	0	6.5e-06	1	154602	rs201170230	6.842e-07	6.84e-07	0	1.376e-06	2.238e-05	0	0	.	.	0	2.238e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.508	0.07545	T	.	.	.	.	.	.	.	.	.	0.891765	0.08682	U	0.935307	0.982917	0.24926	N	1.175	0.29870	L	0.58	0.54149	T	-1.33	0.33197	N	0.353	0.39558	-1.0012	0.29574	T	0.099	0.36957	T	10	0.074055254	0.11269	T	0.021135	0.43862	T	0.031	0.07369	.	.	0.0551355673512	0.04727	0.17295314848951168	0.17215	.	.	0.454461336136	0.32553	T	0.002842	0.02237	T	-0.405756	0.02121	T	-0.651489	0.08850	T	0.0497904755175114	0.05464	T	0.625137	0.24143	T	0.13162793	0.30675	0.20811763	0.45100	0.13162793	0.30675	0.20811763	0.45099	-5.26	0.39546	T	.	.	0.191	0.40968	B	.;.	.;.	-0.164848	0.03276	0.560	0.92971033820269122	0.22550	0.03220	0.08227	N	AEFDGBHCI	0.115976	0.22781	N	-0.99765071762215	0.08654	0.406581	-0.989679325210261	0.10016	0.5018434	0.999997535714228	0.74766	0.580535	0.33130	0	0.626922	0.53725	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	5.14	-1.87	0.07317	-1.921000	0.01661	-4.609000	0.02071	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.977000	0.56843	0.5801:0.0:0.4199:0.0	10.459	0.43756	884	0.28482	Dynein heavy chain, domain-1;Dynein heavy chain, domain-1	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	131.44	38	chr17	78558165	.	G	T	131.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.72;DP=239;ExcessHet=0;FS=3.136;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.78;ReadPosRankSum=-0.484;SOR=1.492	GT:AD:DP:GQ:PL	0/1:3,4:7:69:142,0,69	6	0	1	0	C
chr17	82093639	82093639	G	A	exonic	FASN	.	nonsynonymous SNV	FASN:NM_004104:exon4:c.C413T:p.A138V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.461	0.04545105289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.007	0.69154	D	1.0	0.90584	D	0.969	0.72001	D	0.000195	0.48115	D	0.135161	1	0.81001	D	2.665	0.77964	M	1.57	0.29342	T	-2.9	0.60827	D	0.941	0.94786	-0.3443	0.73719	T	0.256	0.62609	T	10	0.89938986	0.89297	D	0.045451	0.61989	D	0.461	0.75822	0.817	0.93127	0.553962910194	0.55055	0.9628203690014785	0.96269	.	.	0.562062859535	0.47558	T	0.745361	0.92980	D	0.106725	0.65010	D	-0.0844738	0.64575	T	0.973181128501892	0.69994	D	0.968003	0.94093	D	0.5053191	0.67406	0.30141622	0.56174	0.5053191	0.67407	0.30141622	0.56173	-9.985	0.73822	D	.	.	0.762	0.76533	P	.;.;.	.;.;.	5.021048	0.83447	28.0	0.99932098447316575	0.99439	0.99574	0.97595	D	AEFDBHCI	0.947828	0.95881	D	0.717833449905371	0.80802	7.375569	0.586364053486969	0.73961	6.056859	1.0	0.98316	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.62	4.62	0.56946	7.784000	0.84325	11.633000	0.93719	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.0:0.0:1.0:0.0	17.067	0.86438	.	.	Beta-ketoacyl synthase, N-terminal|Polyketide synthase, beta-ketoacyl synthase domain;Beta-ketoacyl synthase, N-terminal|Polyketide synthase, beta-ketoacyl synthase domain;Beta-ketoacyl synthase, N-terminal|Polyketide synthase, beta-ketoacyl synthase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	51.44	39	chr17	82093639	.	G	A	51.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.703;DP=252;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.43;ReadPosRankSum=-0.992;SOR=1.034	GT:AD:DP:GQ:PL	0/1:5,3:8:62:62,0,103	6	0	1	0	.
chr18	108216	108216	C	A	upstream	ROCK1P1	dist=849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs143492669	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	52.44	90	chr18	108216	.	C	A	52.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.812;DP=641;ExcessHet=0;FS=2.948;MLEAC=1;MLEAF=0.071;MQ=37.31;MQRankSum=-1.732;QD=5.83;ReadPosRankSum=0;SOR=0.157	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,2:9:63:0|1:108216_C_A:63,0,268:108216	6	0	1	0	.
chr18	108225	108225	A	G	upstream	ROCK1P1	dist=840	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1272266531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.628e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	58.44	90	chr18	108225	.	A	G	58.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.981;DP=667;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=33.25;MQRankSum=-1.465;QD=8.35;ReadPosRankSum=0;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:69:0|1:108216_C_A:69,0,204:108216	6	0	1	0	C
chr18	14533138	14533138	C	G	exonic	POTEC	.	nonsynonymous SNV	POTEC:NM_001137671:exon5:c.G978C:p.E326D	.	560	961	1	0	0	1	0.000520021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00503084544389	.	0.000199681	0.0005	0.0001	0.0004	0	0.0005	0.0009	0	0	6.5e-06	1	154602	rs541271454	0.0006	0.0006	0.0006	0.0006	0.0007	0.0005	0.0005	0.0006	0.0006	5.992e-05	0.0004	0.0006	0	0.0004	0.0002	0.0007	0.0005	0	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	7.221e-05	0	0.0005	0.0006	0	9.432e-05	0	0.0004	0.0009	0	0.142	0.25457	T	0.138	0.33780	T	0.685	0.41537	P	0.396	0.44364	B	.	.	.	.	1	0.08975	N	0.77	0.19370	N	-0.25	0.67011	T	-1.43	0.35194	N	0.178	0.19190	-0.9829	0.34328	T	0.141	0.46165	T	9	0.03785792	0.02166	T	0.005031	0.12722	T	0.045	0.12272	0.373	0.38503	0.623114596716	0.62004	0.11026446638219198	0.10955	.	.	0.803986310959	0.82571	D	0.006769	0.06199	T	-0.499271	0.00577	T	-0.583859	0.14202	T	0.0307874940935934	0.02111	T	0.40156	0.10241	T	0.051650546	0.09516	0.04720538	0.06748	0.051650546	0.09516	0.04720538	0.06747	-7.639	0.58582	D	.	.	0.221	0.45236	B	.;.	.;.	0.728087	0.10974	7.636	0.98504002363058218	0.42252	0.00756	0.03136	N	AEFI	0.034118	0.04171	N	-0.905701572053082	0.10708	0.5130147	-1.08867980991292	0.07923	0.3873386	1.09828599737309E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.09	0.159	0.14256	-1.069000	0.03555	.	.	-0.584000	0.04686	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7054:0.0:0.2946	3.369	0.06794	940	0.13648	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	61.44	40	chr18	14533138	.	C	G	61.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.559;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=38.62;MQRankSum=-0.508;QD=6.83;ReadPosRankSum=-0.475;SOR=0.446	GT:AD:DP:GQ:PL	0/1:5,4:9:72:72,0,122	6	0	1	0	.
chr18	75285859	75285859	A	G	exonic	TSHZ1	.	nonsynonymous SNV	TSHZ1:NM_001308210:exon2:c.A452G:p.K151R,TSHZ1:NM_005786:exon2:c.A317G:p.K106R	Aural atresia, congenital, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.0101009392439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.602e-06	9.577e-06	1.228e-05	6.897e-06	1.261e-05	5.57e-06	4.36e-06	7.31e-06	5.72e-06	0	0	0	0	0	0	1.261e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.91255	T	0.162	0.31225	T	0.016	0.17332	B	0.016	0.17743	B	0.022328	0.26655	N	0.294663	0.957984	0.26241	N	1.1	0.28011	L	2.69	0.23082	T	-0.12	0.31170	N	0.095	0.17966	-1.0135	0.25816	T	0.020	0.08266	T	10	0.12936667	0.24614	T	0.010101	0.26235	T	0.037	0.09474	0.164	0.06842	0.624834224408	0.62178	0.2305475118178198	0.22969	0.308946367022	0.33212	0.344445198774	0.17100	T	0.079568	0.36158	T	-0.181859	0.23458	T	-0.499004	0.22450	T	0.361432254314423	0.27465	T	0.671533	0.28021	T	0.07538909	0.16982	0.1452968	0.34464	0.07538909	0.16982	0.1452968	0.34463	-4.583	0.31957	T	.	.	0.082	0.12750	B	.;.;.	.;.;.	3.165596	0.42909	21.6	0.81069619512628421	0.13505	0.97015	0.72198	D	AEFDBI	0.488208	0.52663	N	-0.28932376319022	0.29559	1.640319	-0.101794181779673	0.35319	2.041892	0.941942436515841	0.27500	0.562547	0.31514	0	0.546412	0.12157	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.16	5.16	0.70563	3.942000	0.56324	5.232000	0.48034	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.182000	0.21359	1.0:0.0:0.0:0.0	13.585	0.61389	1000	0.00083	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	100.44	86	chr18	75285859	.	A	G	100.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.842;DP=439;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.74;ReadPosRankSum=-0.842;SOR=1.609	GT:AD:DP:GQ:PL	0/1:2,4:6:31:111,0,31	6	0	1	0	.
chr18	76871684	76871684	C	A	intronic	ZNF236	.	.	.	.	443	1076	3	0	0	3	0.00139211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs377423374	4.106e-06	4.104e-06	2.723e-06	5.503e-06	4.498e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	3.828e-05	0	0	0	4.498e-06	0	0	6.573e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	45.44	34	chr18	76871684	.	C	A	45.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.1;DP=217;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.13;ReadPosRankSum=-0.199;SOR=1.179	GT:AD:DP:GQ:PL	0/1:8,3:11:56:56,0,165	6	0	1	0	.
chr19	2339740	2339740	C	T	intronic	SPPL2B	.	.	.	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs867063413	0.0001	0.0001	0.0001	0.0001	0.0037	0.0001	9.874e-05	0.0025	0.0021	0.0001	0.0005	0.0005	0	0	0.0037	7.159e-05	0.0002	0.0003	0.0001	0.0001	0.0001	0.0001	0.0002	7.577e-05	6.282e-05	5.283e-05	3.34e-05	0.0001	0	0.0002	0.0006	0	0	0	0.0001	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	121.55	29	chr19	2339740	.	C	T	121.55	.	AC=2;AF=0.143;AN=14;DP=191;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=24.31;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,5:5:15:142,15,0	6	1	0	0	.
chr19	3576396	3576396	T	C	intronic	HMG20B	.	.	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs867355774	7.27e-05	7.201e-05	7.631e-05	6.914e-05	0.0057	6.061e-05	5.626e-05	0.0041	0.0036	3.304e-05	0	0	0	0	0.0057	5.319e-05	0.0002	2.41e-05	3.287e-05	3.284e-05	1.285e-05	5.383e-05	7.351e-05	1.261e-05	7.98e-06	2.847e-05	1.858e-05	0	0	0	0	0	0	0	7.351e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	97.44	37	chr19	3576396	.	T	C	97.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.282;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.24;ReadPosRankSum=0.431;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,4:6:64:108,0,64	6	0	1	0	.
chr19	8882415	8882415	G	C	intronic	MUC16	.	.	.	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1370231984	6.941e-07	8.277e-05	0	1.396e-06	1.199e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.199e-05	0	5.403e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	62.23	42	chr19	8882415	.	G	C	62.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.524;DP=405;ExcessHet=0;FS=3.31;MLEAC=1;MLEAF=0.083;MQ=54.6;MQRankSum=-1.834;QD=10.37;ReadPosRankSum=0;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,2:6:72:0|1:8882405_AG_A:72,0,162:8882405	5	0	1	1	.
chr19	8882421	8882421	T	C	intronic	MUC16	.	.	.	.	427	1090	5	0	0	5	0.00228833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1277611838	2.84e-06	0.0001	0	5.723e-06	2.676e-05	6.7e-07	4.5e-07	3.1e-07	1.2e-07	0	0	0	2.676e-05	0	0	1.842e-06	0	1.278e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	63.11	42	chr19	8882421	.	T	C	63.11	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.83;DP=391;ExcessHet=0;FS=3.31;MLEAC=1;MLEAF=0.1;MQ=54.6;MQRankSum=-1.834;QD=10.52;ReadPosRankSum=-0.842;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,2:6:72:0|1:8882405_AG_A:72,0,162:8882405	4	0	1	2	C
chr19	8882431	8882431	G	A	intronic	MUC16	.	.	.	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1466771310	1.411e-06	9.509e-05	0	2.841e-06	2.624e-05	2.3e-07	9e-08	.	.	0	0	0	2.624e-05	0	0	9.163e-07	0	0	0	6.491e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	63.11	42	chr19	8882431	.	G	A	63.11	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.524;DP=356;ExcessHet=0;FS=3.31;MLEAC=1;MLEAF=0.1;MQ=54.6;MQRankSum=-1.834;QD=10.52;ReadPosRankSum=-1.834;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,2:6:72:0|1:8882405_AG_A:72,0,162:8882405	4	0	1	2	C
chr19	8946802	8946802	T	-	exonic	MUC16	.	frameshift deletion	MUC16:NM_024690:exon3:c.29968delA:p.R9990Dfs*7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	54.4	73	chr19	8946801	.	CT	C	54.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=607;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-0.674;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,2:5:65:65,0,106	6	0	1	0	C
chr19	10119009	10119009	G	-	intronic	EIF3G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	49.4	37	chr19	10119008	.	AG	A	49.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=263;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=-0.524;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,2:5:60:60,0,97	6	0	1	0	.
chr19	15742072	15742072	T	C	exonic	OR10H3	.	nonsynonymous SNV	OR10H3:NM_013938:exon1:c.T680C:p.I227T	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.00147771066605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.029	0.54541	D	0.055	0.22733	B	0.069	0.27757	B	0.020123	0.27106	U	0.170431	1	0.08975	N	3.53	0.93071	H	8.39	0.00243	T	-4.4	0.77308	D	0.142	0.14196	-0.9961	0.31001	T	0.001	0.00318	T	10	0.3855527	0.54512	T	0.001478	0.02267	T	0.090	0.26093	0.793	0.91438	0.405839309607	0.40195	0.07647593884922571	0.07583	0.076699842996	0.08613	0.27299785614	0.06535	T	0.009672	0.08788	T	-0.131347	0.31277	T	-0.426447	0.30340	T	0.357836257687421	0.27324	T	0.837416	0.50983	T	0.49829435	0.66995	0.48447543	0.70158	0.49829435	0.66996	0.48447543	0.70158	-7.973	0.60886	D	.	.	0.264	0.49807	B	.;.	.;.	2.764955	0.36273	20.2	0.96602957867436645	0.30412	0.12476	0.17292	N	AEFGBI	0.069116	0.13666	N	-0.484936188236524	0.22575	1.20632	-0.583697828145078	0.19918	1.070817	0.193588535053993	0.18030	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.37	2.37	0.28337	3.017000	0.49302	.	.	-0.308000	0.06107	0.089000	0.22556	0.009000	0.19889	0.819000	0.38590	0.0:0.0:0.0:1.0	8.241	0.30818	970	0.06235	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	172.44	41	chr19	15742072	.	T	C	172.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.264;DP=612;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.61;MQRankSum=1.05;QD=9.08;ReadPosRankSum=1.15;SOR=0.892	GT:AD:DP:GQ:PL	0/1:10,9:19:99:183,0,222	6	0	1	0	.
chr19	15794046	15794046	G	A	upstream	OR10H5	dist=3	.	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	4.273e-05	0.0005	0	0	0	0	0	0	3.88e-05	6	154602	rs373345040	1.373e-05	1.847e-05	1.092e-05	1.658e-05	0.0001	8.97e-06	7.29e-06	4.369e-05	2.774e-05	0.0001	0.0001	0	0	1.896e-05	0	7.218e-06	3.323e-05	0	0.0001	0.0001	0.0001	0.0001	0.0003	7.101e-05	5.756e-05	0.0001	0.0001	0.0003	0	0.0002	0	0	0	0	2.943e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	143.44	34	chr19	15794046	.	G	A	143.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.66;DP=944;ExcessHet=0;FS=2.307;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.96;ReadPosRankSum=-1.303;SOR=1.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,5:16:99:1|0:15794043_G_A:154,0,447:15794043	6	0	1	0	.
chr19	15934313	15934313	-	GCCAGGA	exonic	CYP4F11	.	frameshift insertion	CYP4F11:NM_021187:exon1:c.95_96insTCCTGGC:p.R33Pfs*13,CYP4F11:NM_001128932:exon2:c.95_96insTCCTGGC:p.R33Pfs*13	.	404	1117	1	0	0	1	0.000447427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	0	2.751e-06	2.519e-05	2.3e-07	9e-08	.	.	0	0	0	2.519e-05	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	187.4	33	chr19	15934313	.	G	GGCCAGGA	187.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.712;DP=219;ExcessHet=0;FS=2.808;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.82;ReadPosRankSum=1.07;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,5:9:99:0|1:15934313_G_GGCCAGGA:198,0,153:15934313	6	0	1	0	.
chr19	21383203	21383203	-	ACTC	exonic	ZNF738	.	frameshift insertion	ZNF738:NM_001355237:exon5:c.657_658insACTC:p.G220Tfs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1434000702	0	5.341e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.578e-06	0.0004	1.286e-05	0	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	85.4	39	chr19	21383203	.	A	AACTC	85.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.56;DP=341;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=57.59;MQRankSum=-3.323;QD=6.57;ReadPosRankSum=-0.932;SOR=0.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,3:13:96:0|1:21383168_A_G:96,0,411:21383168	6	0	1	0	.
chr19	21383206	21383209	TCAA	-	exonic	ZNF738	.	frameshift deletion	ZNF738:NM_001355237:exon5:c.660_663del:p.Q221Ifs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310884774	0	4.382e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.714e-06	0.0004	1.31e-05	0	1.494e-05	0	0	.	.	0	0	0	0	0	0	0	1.494e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	83.18	39	chr19	21383205	.	GTCAA	G	83.18	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.65;DP=327;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=57.77;MQRankSum=-3.474;QD=5.94;ReadPosRankSum=-1.645;SOR=0.976	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,3:14:93:0|1:21383168_A_G:93,0,453:21383168	5	0	1	1	C
chr19	21384610	21384617	TTTAAAAA	-	UTR3	ZNF738	NM_001355237:c.*936_*943delTTTAAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	64.4	89	chr19	21384609	.	TTTTAAAAA	T	64.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=324;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=57.67;MQRankSum=-1.645;QD=12.88;ReadPosRankSum=1.65;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:75:0|1:21384609_TTTTAAAAA_T:75,0,98:21384609	6	0	1	0	C
chr19	21384620	21384643	CTCAAACCTTACTAATCATAAGAT	-	UTR3	ZNF738	NM_001355237:c.*946_*969delCTCAAACCTTACTAATCATAAGAT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	64.4	89	chr19	21384619	.	CCTCAAACCTTACTAATCATAAGAT	C	64.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.383;DP=324;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=57.67;MQRankSum=-1.645;QD=12.88;ReadPosRankSum=1.38;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:75:0|1:21384609_TTTTAAAAA_T:75,0,120:21384609	6	0	1	0	C
chr19	21384649	21384700	ATACTGGAGAGAAACCCTACAAATGTGAAGAATGTGGAAAAGCTTTTAACCA	-	UTR3	ZNF738	NM_001355237:c.*975_*1026delATACTGGAGAGAAACCCTACAAATGTGAAGAATGTGGAAAAGCTTTTAACCA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	64.4	89	chr19	21384648	.	CATACTGGAGAGAAACCCTACAAATGTGAAGAATGTGGAAAAGCTTTTAACCA	C	64.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=324;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=57.67;MQRankSum=-1.645;QD=12.88;ReadPosRankSum=1.38;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:75:0|1:21384609_TTTTAAAAA_T:75,0,120:21384609	6	0	1	0	C
chr19	21384709	21384709	C	A	UTR3	ZNF738	NM_001355237:c.*1035C>A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1343978834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.042e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	64.44	109	chr19	21384709	.	C	A	64.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=437;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=57.67;MQRankSum=-1.645;QD=12.89;ReadPosRankSum=0.524;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:75:0|1:21384609_TTTTAAAAA_T:75,0,120:21384609	6	0	1	0	C
chr19	21971965	21971965	G	A	exonic	ZNF208	.	synonymous SNV	ZNF208:NM_007153:exon4:c.C3069T:p.H1023H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.297e-06	0	0	0	0	1.5e-05	0	0	3.84e-05	1	26028	rs774660190	3.516e-06	3.489e-05	4.202e-06	2.825e-06	3.68e-06	1.03e-06	7.5e-07	8.6e-07	5.8e-07	0	0	0	0	0	0	3.68e-06	1.74e-05	0	3.524e-05	0.0003	4.13e-05	2.888e-05	0.0002	1.33e-05	8.48e-06	1.226e-05	6.4e-06	0	0	0	0	0.0002	0.0001	0	4.618e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.07143	52.44	33	chr19	21971965	.	G	A	52.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.812;DP=399;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=58.72;MQRankSum=-2.2;QD=5.83;ReadPosRankSum=-0.282;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,2:9:63:0|1:21971965_G_A:63,0,288:21971965	6	0	1	0	.
chr19	21971970	21971970	T	C	exonic	ZNF208	.	nonsynonymous SNV	ZNF208:NM_007153:exon4:c.A3064G:p.I1022V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00127579957677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	2.052e-06	0	1.376e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	0	6.575e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.172	0.22660	T	0.324	0.25061	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.365	0.12025	N	3.22	0.07024	T	-0.34	0.12661	N	0.136	0.13341	-0.9424	0.42234	T	0.013	0.04938	T	8	0.06240055	0.07973	T	0.001276	0.01733	T	0.013	0.01715	.	.	0.0551355673512	0.04727	0.0023966970669596997	0.00222	0.0294820826827	0.03029	0.593373060226	0.51970	T	0.001048	0.00572	T	-0.352975	0.04543	T	-0.744801	0.03692	T	0.048585378230822	0.05248	T	0.109789	0.00823	T	0.024239777	0.01236	0.032372028	0.01963	0.024239777	0.01236	0.032372028	0.01963	-8.733	0.65962	D	.	.	0.199	0.42273	B	.;.	.;.	0.366307	0.07386	4.012	0.91420010714935018	0.20688	0.03551	0.08752	N	AEBHCI	0.042744	0.06672	N	-1.16656969511267	0.05513	0.2515036	-1.31106582347987	0.04286	0.2018595	1.71477131093844E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.58	-1.77	0.07551	-0.337000	0.07898	.	.	-0.377000	0.05411	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.2185:0.3276:0.4539	4.276	0.10255	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	52.44	33	chr19	21971970	.	T	C	52.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.812;DP=399;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=58.72;MQRankSum=-2.2;QD=5.83;ReadPosRankSum=0;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,2:9:63:0|1:21971965_G_A:63,0,288:21971965	6	0	1	0	C
chr19	21971972	21971972	T	C	exonic	ZNF208	.	nonsynonymous SNV	ZNF208:NM_007153:exon4:c.A3062G:p.K1021R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00117496099464	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1285268443	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.838e-06	4.69e-05	0	1.401e-05	1.511e-05	0	0	.	.	0	0	0	0	0	0	0	1.511e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.9	0.01342	N	2.29	0.17113	T	0.79	0.01893	N	0.083	0.05929	-0.9533	0.40398	T	0.014	0.05561	T	8	0.037503242	0.02109	T	0.001175	0.01484	T	0.017	0.02790	.	.	0.104622674875	0.10061	0.0023595979001155474	0.00218	0.00879187926376	0.00795	0.427874863148	0.28918	T	4.32E-4	0.00146	T	-0.457775	0.01015	T	-0.895339	0.00536	T	0.0440131190690142	0.04423	T	0.0521948	0.00394	T	0.018259525	0.00347	0.028339215	0.01062	0.018259525	0.00347	0.028339215	0.01062	-4.567	0.31754	T	.	.	0.054	0.00658	B	.;.	.;.	-1.239373	0.00493	0.011	0.08569832262126427	0.00070	0.00406	0.02023	N	AEBHCI	0.019046	0.00627	N	-1.46673003195739	0.02089	0.09186849	-1.53832911001359	0.02057	0.09405837	1.52464582226582E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.58	-0.0893	0.13004	-1.504000	0.02379	.	.	-0.606000	0.04599	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3715:0.5069:0.0:0.1215	4.559	0.11548	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	49.44	33	chr19	21971972	.	T	C	49.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.812;DP=400;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=58.85;MQRankSum=-2.287;QD=4.94;ReadPosRankSum=0.282;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,2:10:60:0|1:21971965_G_A:60,0,330:21971965	6	0	1	0	C
chr19	21971989	21971989	G	A	exonic	ZNF208	.	synonymous SNV	ZNF208:NM_007153:exon4:c.C3045T:p.N1015N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.579e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.07143	46.44	33	chr19	21971989	.	G	A	46.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.23;DP=401;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=58.95;MQRankSum=-2.362;QD=4.22;ReadPosRankSum=2.36;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,2:11:57:0|1:21971965_G_A:57,0,372:21971965	6	0	1	0	C
chr19	21971995	21971995	T	G	exonic	ZNF208	.	synonymous SNV	ZNF208:NM_007153:exon4:c.A3039C:p.S1013S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.492e-05	0	0	0.0001	0	3.002e-05	0	0	0.0001537	4	26028	rs752427846	8.221e-06	1.573e-05	8.179e-06	8.263e-06	0.0001	4.38e-06	3.46e-06	3.36e-05	1.989e-05	0	0	0	0.0001	0	0	6.303e-06	0	1.161e-05	6.232e-05	0.0003	4.065e-05	8.496e-05	0.0005	3.227e-05	2.418e-05	8.045e-05	3.372e-05	0.0001	0	0	0	0	0.0001	0	1.529e-05	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.07143	46.44	33	chr19	21971995	.	T	G	46.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.23;DP=401;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=58.95;MQRankSum=-2.362;QD=4.22;ReadPosRankSum=2.36;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,2:11:57:0|1:21971965_G_A:57,0,372:21971965	6	0	1	0	C
chr19	21971999	21971999	C	G	exonic	ZNF208	.	nonsynonymous SNV	ZNF208:NM_007153:exon4:c.G3035C:p.W1012S	.	.	.	.	.	.	.	.	.	.	.	4106341	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.022	0.000866676226316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.08660	T	0.505	0.18071	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.13	0.04535	N	3.21	0.07125	T	-0.32	0.12283	N	0.323	0.36359	-0.9159	0.46103	T	0.010	0.03856	T	8	0.09103167	0.15910	T	8.67E-4	0.00777	T	0.022	0.04323	.	.	0.0920862733494	0.08535	0.009212835826987663	0.00884	0.00814575459955	0.00735	0.411447227001	0.26657	T	0.001544	0.00986	T	-0.334951	0.05746	T	-0.71891	0.04849	T	0.02861368435377	0.01779	T	0.00360873	0.00010	T	0.043089893	0.06653	0.051901434	0.08447	0.043089893	0.06652	0.051901434	0.08446	-10.014	0.73996	D	.	.	0.341	0.55998	A	.;.	.;.	-0.025143	0.04112	0.972	0.47439688430646498	0.03879	0.03043	0.07935	N	AEFBHCI	0.041736	0.06386	N	-1.18151287201977	0.05280	0.2403064	-1.31351629495855	0.04255	0.2002903	4.82218353850094E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.58	-3.66	0.04200	-5.618000	0.00131	.	.	-2.519000	0.00257	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3573:0.457:0.0:0.1857	4.433	0.10963	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	46.44	33	chr19	21971999	.	C	G	46.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.23;DP=401;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=58.95;MQRankSum=-2.362;QD=4.22;ReadPosRankSum=2.36;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,2:11:57:0|1:21971965_G_A:57,0,372:21971965	6	0	1	0	C
chr19	33002730	33002730	T	C	intronic	RHPN2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs556911689	3.728e-05	4.184e-05	4.193e-05	3.267e-05	0.0011	2.868e-05	2.588e-05	0.0008	0.0007	0.0011	2.292e-05	0.0002	2.559e-05	0	0.0002	9.921e-07	5.314e-05	2.418e-05	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	0.0001	0.0005	0.0004	0.0007	0	0	0.0003	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	51.44	28	chr19	33002730	.	T	C	51.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.83;DP=199;ExcessHet=0;FS=3.31;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.57;ReadPosRankSum=-1.282;SOR=2.303	GT:AD:DP:GQ:PL	0/1:4,2:6:62:62,0,81	6	0	1	0	.
chr19	37388420	37388420	C	-	exonic	ZNF527	.	frameshift deletion	ZNF527:NM_032453:exon5:c.371delC:p.S125Vfs*26	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	43.4	35	chr19	37388419	.	TC	T	43.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.366;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.2;ReadPosRankSum=1.07;SOR=0.446	GT:AD:DP:GQ:PL	0/1:5,2:7:54:54,0,166	6	0	1	0	.
chr19	38309395	38309395	G	A	intronic	YIF1B	.	.	.	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.497e-05	0	0	0.0001	0	0	0	0.0001	1.94e-05	3	154602	rs780676380	2.192e-05	2.257e-05	1.226e-05	3.167e-05	0.0003	1.586e-05	1.357e-05	0.0002	0.0002	5.977e-05	0	0	0.0003	0	0.0003	5.401e-06	1.658e-05	9.297e-05	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	71.44	33	chr19	38309395	.	G	A	71.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.718;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.49;ReadPosRankSum=1.11;SOR=1.27	GT:AD:DP:GQ:PL	0/1:7,4:11:82:82,0,149	6	0	1	0	.
chr19	38494555	38494555	G	A	exonic	RYR1	.	nonsynonymous SNV	RYR1:NM_000540:exon39:c.G6478A:p.G2160S,RYR1:NM_001042723:exon39:c.G6478A:p.G2160S	Central core disease, Autosomal recessive, Autosomal dominant;King-Denborough syndrome, Autosomal dominant;Minicore myopathy with external ophthalmoplegia, Autosomal recessive;Neuromuscular disease, congenital, with uniform type 1 fiber, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	171236	Malignant_hyperthermia_and_exertional_rhabdomyolosis|not_provided|Malignant_hyperthermia,_susceptibility_to,_1|Congenital_multicore_myopathy_with_external_ophthalmoplegia|RYR1-related_disorder|Central_core_myopathy|Congenital_myopathy_with_fiber_type_disproportion|King_Denborough_syndrome	MedGen:CN221545|MedGen:C3661900|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600,Orphanet:423|Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:598,Orphanet:98905|MedGen:CN239331|MONDO:MONDO:0007294,MedGen:C5830701,OMIM:117000,Orphanet:597|MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020|MONDO:MONDO:0020485,MedGen:C1840365,OMIM:619542	reviewed_by_expert_panel	Uncertain_significance	.	.	.	.	.	.	.	.	0.635	0.0612966364918	0.0002	0.000199681	9.126e-05	0.0006	8.658e-05	0	0	0	0	0.0002	7.76e-05	12	154602	rs143398211	3.01e-05	3.01e-05	3.267e-05	2.75e-05	0.0006	2.282e-05	2.032e-05	0.0004	0.0003	0.0006	2.236e-05	0	5.038e-05	0	0	1.259e-05	3.312e-05	6.956e-05	0.0002	0.0002	0.0001	0.0002	0.0005	0.0001	9.233e-05	0.0003	0.0003	0.0005	0	0	0	0.0002	0	0	1.47e-05	0.0005	0	0.567	0.06381	T	.	.	.	0.448	0.37206	B	0.06	0.30579	B	0.000002	0.62929	U	0.000000	0.954616	0.37886	D	0.475	0.13142	N	-3.56	0.94869	D	-4.42	0.77470	D	0.532	0.56058	-0.0678	0.80828	T	0.564	0.84166	D	10	0.17900038	0.33012	T	0.061297	0.68284	D	0.635	0.86027	.	.	0.885086117135	0.88395	0.7774034703502605	0.77690	0.361046545308	0.37764	0.668029427528	0.62556	T	0.692358	0.91067	D	-0.00653183	0.50749	T	0.134809	0.79206	D	0.113301798701286	0.13763	T	0.915108	0.69728	D	0.17204787	0.37873	0.23414798	0.48624	0.1799848	0.39096	0.22851634	0.47895	-8.28	0.63203	D	0.13797441899275245	0.15228	0.180	0.39151	B	.;.	.;.	3.827164	0.55303	23.6	0.99512581962573143	0.68739	0.92972	0.57003	D	AEFDBI	0.662020	0.63204	D	-0.323177881297509	0.28270	1.557893	-0.226923715096967	0.30576	1.722738	0.994181383628553	0.33525	0.730579	0.87903	0	0.588066	0.40923	0	0.749866	0.98131	0	0.613276	0.41899	0	.	.	4.63	2.38	0.28415	4.698000	0.61475	4.970000	0.46394	-0.185000	0.09859	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0835:0.0:0.7694:0.1471	9.977	0.40962	746	0.52331	.;RIH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	171.19	33	chr19	38494555	.	G	A	171.19	.	AC=2;AF=0.143;AN=14;DP=213;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=24.46;SOR=0.941	GT:AD:DP:GQ:PL	1/1:0,7:7:21:192,21,0	6	1	0	0	.
chr19	38733773	38733773	A	-	exonic	CAPN12	.	frameshift deletion	CAPN12:NM_144691:exon18:c.1887delT:p.F629Lfs*12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	43.4	35	chr19	38733772	.	TA	T	43.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.068;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.2;ReadPosRankSum=-1.981;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:54:0|1:38733772_TA_T:54,0,166:38733772	6	0	1	0	.
chr19	38733773	38733773	A	0	exonic	CAPN12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	15859.8	82	chr19	38733773	.	A	*	15859.8	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.321;DP=586;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=27.63;ReadPosRankSum=-1.044;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,2:7:54:1|0:38733772_TA_T:245,157,166:38733772	6	0	1	0	C
chr19	38733774	38733774	A	G	exonic	CAPN12	.	nonsynonymous SNV	CAPN12:NM_144691:exon18:c.T1886C:p.F629S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.541	0.0860008720143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.83351	D	0.937	0.52445	P	0.645	0.52270	P	0.000013	0.62929	D	0.113900	0.987587	0.40615	D	4.24	0.98003	H	-0.46	0.70014	T	-6.51	0.91653	D	0.953	0.96187	-0.1228	0.79569	T	0.507	0.81454	D	10	0.9644434	0.95901	D	0.086001	0.74647	D	0.541	0.80842	0.783	0.90693	0.729663953973	0.72726	0.6853421081630479	0.68473	0.152845053789	0.17248	0.615104317665	0.55037	T	0.460848	0.79786	T	0.366988	0.87790	D	0.289377	0.87634	D	0.999412417411804	0.97310	D	0.422958	0.21881	T	0.85128045	0.87431	0.67029804	0.80656	0.85128045	0.87432	0.67029804	0.80657	-11.854	0.84132	D	.	.	0.912	0.83563	P	.;.;.	.;.;.	3.862548	0.56023	23.7	0.99720375300981878	0.81984	0.82762	0.41946	D	AEDGBHCIJ	0.594400	0.58935	D	0.407054074570214	0.61809	4.387199	0.187380851813132	0.49154	3.122121	0.999999995811125	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.643519	0.47002	0	0.662026	0.63922	0	.	.	3.94	2.9	0.32809	4.831000	0.62441	7.989000	0.76104	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.065000	0.16320	0.6932:0.0:0.1109:0.1959	3.462	0.07102	689	0.59000	EF-hand domain;EF-hand domain;EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	43.44	40	chr19	38733774	.	A	G	43.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.068;DP=238;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.21;ReadPosRankSum=-1.981;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:54:0|1:38733772_TA_T:54,0,166:38733772	6	0	1	0	C
chr19	42867613	42867613	G	T	UTR3	PSG1	NM_006905:c.*450C>A;NM_001297773:c.*89C>A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.622e-06	7.283e-06	3.977e-06	3.326e-06	3.505e-05	6e-07	2.3e-07	5.81e-06	2.18e-06	0	0	0	0	0	0	0	0	3.505e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	177.21	16	chr19	42867613	.	G	T	177.21	.	AC=2;AF=0.143;AN=14;DP=179;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=22.15;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,8:8:24:198,24,0	6	1	0	0	.
chr19	45060466	45060466	C	T	exonic	CLASRP	.	nonsynonymous SNV	CLASRP:NM_001278439:exon8:c.C602T:p.S201L,CLASRP:NM_007056:exon9:c.C788T:p.S263L	.	.	.	.	.	.	.	.	0.4349	0.502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.310	0.133660761497	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.68238	D	0.013	0.76473	D	1.0	0.90584	D	0.984	0.76113	D	0.006952	0.31695	U	0.000000	1	0.81001	D	.	.	.	1.21	0.56281	T	-4.86	0.81755	D	0.8	0.83371	-0.5051	0.68464	T	0.287	0.65841	T	10	0.6263567	0.68265	D	0.133661	0.81605	D	0.310	0.63162	0.227	0.15257	0.372491666437	0.36864	0.6981101706443243	0.69752	1.68168134764	0.89993	0.822185456753	0.85364	D	0.142639	0.47833	T	0.201462	0.74028	D	0.0516095	0.73690	D	0.992237865924835	0.82666	D	0.975702	0.91601	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.994	0.94895	P	.;.;.	.;.;.	6.347172	0.95057	34	0.99924870763971307	0.98980	0.96301	0.68472	D	AEFBCI	0.904399	0.85465	D	0.546382117716747	0.69861	5.417722	0.515929283904331	0.69060	5.306918	0.999913766676895	0.45857	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	4.77	3.73	0.41982	7.259000	0.77791	7.683000	0.65396	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9054:0.0:0.0946	10.493	0.43947	940	0.13648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	145.44	36	chr19	45060466	.	C	T	145.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.21;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=24.24;ReadPosRankSum=1.38;SOR=0.707	GT:AD:DP:GQ:PL	0/1:1,5:6:16:156,0,16	6	0	1	0	.
chr19	46602252	46602252	T	G	intronic	CALM3	.	.	.	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.499e-07	1.368e-06	0	1.722e-06	.	0	0	.	.	0	0	0	0	0	0	0	2.347e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	57.44	33	chr19	46602252	.	T	G	57.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.703;DP=194;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.18;ReadPosRankSum=-0.854;SOR=0.818	GT:AD:DP:GQ:PL	0/1:5,3:8:68:68,0,117	6	0	1	0	.
chr19	49686613	49686613	-	C	exonic	PRMT1	.	frameshift insertion	PRMT1:NM_001207042:exon7:c.662dupC:p.Y223Vfs*77,PRMT1:NM_198318:exon9:c.866dupC:p.Y291Vfs*77,PRMT1:NM_001536:exon10:c.920dupC:p.Y309Vfs*77	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	33.4	35	chr19	49686613	.	T	TC	33.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.366;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.77;ReadPosRankSum=-1.465;SOR=0.446	GT:AD:DP:GQ:PL	0/1:5,2:7:44:44,0,142	6	0	1	0	.
chr19	50461469	50461469	C	T	intronic	MYBPC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs779580727	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0003	0.0003	0.0001	0.0001	0	0	0	0.0006	0.0003	0.0004	3.829e-05	0.0002	0.0002	0.0003	9.407e-05	0.0004	0.0001	0.0001	0.0003	0.0002	7.222e-05	0	6.554e-05	0	0	0	0	0.0004	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	41.44	34	chr19	50461469	.	C	T	41.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.366;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.92;ReadPosRankSum=0;SOR=1.802	GT:AD:DP:GQ:PL	0/1:5,2:7:52:52,0,148	6	0	1	0	.
chr19	51063775	51063775	C	-	intronic	KLK13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	46.4	44	chr19	51063774	.	TC	T	46.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.619;DP=234;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.8;ReadPosRankSum=-0.992;SOR=0.307	GT:AD:DP:GQ:PL	0/1:6,2:8:57:57,0,218	6	0	1	0	.
chr20	3022832	3022832	A	T	intronic	PTPRA	.	.	.	.	.	.	.	.	.	.	.	0	0.048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	62.44	34	chr20	3022832	.	A	T	62.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.385;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=-0.598;SOR=0.693	GT:AD:DP:GQ:PL	0/1:3,3:6:71:73,0,71	6	0	1	0	.
chr20	21396175	21396175	-	GGC	exonic	NKX2-4	.	nonframeshift insertion	NKX2-4:NM_033176:exon2:c.800_801insGCC:p.P270_S271insP	.	5	1514	2	0	1	3	0.000660066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0	0	0	0	0.0009	0.0075	0.0014	0.0002305	6	26028	rs758509573	0.0001	0.0001	0.0001	0.0002	0.0025	0.0001	0.0001	0.0014	0.0010	3.69e-05	7.714e-05	0.0009	0	0	0.0025	3.77e-05	0.0004	0.0013	9.224e-05	9.194e-05	6.445e-05	0.0001	0.0004	5.542e-05	4.376e-05	7.307e-05	3.346e-05	0	0	0.0001	0.0009	0	0	0	0.0001	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002092	0.000000	0.002899	0.000000	0.000000	0.000000	0.003205	0.000000	0.07143	109.4	35	chr20	21396175	.	A	AGGC	109.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.842;DP=232;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21.88;ReadPosRankSum=0.524;SOR=0.223	GT:AD:DP:GQ:PL	0/1:2,3:5:75:120,0,75	6	0	1	0	.
chr20	56497036	56497036	T	-	exonic	GCNT7	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	46.4	35	chr20	56497035	.	CT	C	46.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.619;DP=295;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.8;ReadPosRankSum=0.921;SOR=0.307	GT:AD:DP:GQ:PL	0/1:6,2:8:57:57,0,218	6	0	1	0	.
chr21	30592527	30592619	GGAGGCCTGGGCTGTGGTTATGGCGGCTGTGGCTATGGGTGCTGTGGCTACGGAGGCCTGGGCTTTGGCTATGGAGGCCTGGACTGTGGCTAT	-	exonic	KRTAP6-3	.	nonframeshift deletion	KRTAP6-3:NM_181605:exon1:c.82_174del:p.G36_G66del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	43.4	34	chr21	30592526	.	CGGAGGCCTGGGCTGTGGTTATGGCGGCTGTGGCTATGGGTGCTGTGGCTACGGAGGCCTGGGCTTTGGCTATGGAGGCCTGGACTGTGGCTAT	C	43.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.23;ReadPosRankSum=1.38;SOR=0.693	GT:AD:DP:GQ:PL	0/1:4,2:6:54:54,0,162	6	0	1	0	.
chr21	30592597	30592597	A	0	exonic	KRTAP6-3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	14950.4	94	chr21	30592597	.	A	*	14950.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.08;DP=625;ExcessHet=0.0921;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=25.69;ReadPosRankSum=0.788;SOR=0.635	GT:AD:DP:GQ:PL	0/1:4,2:6:54:54,0,162	6	0	1	0	C
chr21	39788114	39788114	T	-	intronic	IGSF5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.824e-07	2.74e-06	0	1.558e-06	1.301e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.301e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	36.4	34	chr21	39788113	.	AT	A	36.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=176;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.07;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PL	0/1:4,2:6:47:47,0,112	6	0	1	0	.
chr22	41166555	41166555	C	T	intronic	EP300	.	.	.	Colorectal cancer, somatic;Rubinstein-Taybi syndrome 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	1.688e-05	0	0	0	0	3.085e-05	0	0	1.29e-05	2	154602	rs371114184	5.255e-06	7.542e-06	0	1.046e-05	2.441e-05	2.19e-06	1.41e-06	4.05e-06	1.52e-06	0	0	0	0	0	0	5.016e-06	0	2.441e-05	1.972e-05	1.97e-05	1.285e-05	2.691e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	63.44	14	chr22	41166555	.	C	T	63.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.524;DP=149;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-1.645;SOR=1.179	GT:AD:DP:GQ:PL	0/1:2,3:5:34:74,0,34	6	0	1	0	.
chr22	42142559	42142559	C	T	exonic	CYP2D7	.	unknown	UNKNOWN	.	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	.	.	.	4.096e-05	0	0.0014	0	0	0	0	0	.	.	.	rs762878819	1.406e-05	1.368e-05	1.254e-05	1.561e-05	0.0002	9.19e-06	7.47e-06	3.15e-05	2.139e-05	0	0	0	0	0	0.0002	9.16e-06	5.092e-05	7.389e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248152	0.15566	N	0.629307	.	.	.	.	.	.	.	.	.	.	.	.	0.431	0.57006	-0.3682	0.73016	T	0.325	0.69324	T	8	0.08866772	0.15288	T	.	.	.	.	.	.	.	0.0611884634855	0.05136	.	.	.	.	.	.	.	0.073867	0.34802	T	-0.260899	0.12795	T	-0.489996	0.23390	T	0.529760837554932	0.33725	D	0.878612	0.60074	D	0.049877282	0.08925	0.07492915	0.16445	0.049877282	0.08925	0.07492915	0.16444	-9.183	0.68868	D	.	.	0.151	0.33504	B	.;.	.;.	2.379249	0.30541	18.47	0.98767749809682481	0.45924	0.27270	0.23230	N	AEFDGBI	0.163333	0.28961	N	-0.285586253640596	0.29703	1.649647	-0.412060637678876	0.24644	1.350615	0.984047583918621	0.30654	0.092769	0.02424	0	0.130567	0.03505	0	0.072005	0.02045	0	0.083433	0.02327	0	.	.	3.82	3.82	0.43153	0.640000	0.24394	-0.109000	0.11851	-0.305000	0.06155	0.007000	0.17678	0.000000	0.08366	0.001000	0.02609	0.0:1.0:0.0:0.0	11.466	0.49483	106	0.95650	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	215.44	42	chr22	42142559	.	C	T	215.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.38;DP=459;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=52.11;MQRankSum=-1.127;QD=11.97;ReadPosRankSum=-0.4;SOR=0.693	GT:AD:DP:GQ:PL	0/1:8,10:18:99:226,0,144	6	0	1	0	.
chr22	44814827	44814827	C	T	intronic	ARHGAP8;PRR5-ARHGAP8	.	.	.	.	438	1081	3	0	0	3	0.00138568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.833e-06	8.216e-06	4.26e-06	1.143e-05	0.0009	4.2e-06	3.07e-06	0.0004	0.0002	0	0	0	2.549e-05	0	0.0009	2.809e-06	0	2.407e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	67.44	34	chr22	44814827	.	C	T	67.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.792;DP=239;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=1.37;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,4:7:71:78,0,71	6	0	1	0	.
chr22	49777603	49777603	G	A	intronic	BRD1	.	.	.	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs561082836	0.0003	0.0003	0.0002	0.0003	0.0036	0.0002	0.0002	0.0022	0.0018	0.0006	0.0003	0	2.667e-05	5.2e-05	0.0036	0.0001	0.0005	0.0016	0.0003	0.0003	0.0002	0.0003	0.0014	0.0002	0.0002	0.0007	0.0005	0.0002	0	0.0004	0	0	0	0.0034	0.0002	0	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	168.19	34	chr22	49777603	.	G	A	168.19	.	AC=2;AF=0.143;AN=14;DP=214;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=24.03;SOR=0.941	GT:AD:DP:GQ:PL	1/1:0,7:7:21:189,21,0	6	1	0	0	.
chr22	50316266	50316266	T	G	intronic	DENND6B	.	.	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.848e-05	0	0	0	0	3.425e-05	0	0	6.5e-06	1	154602	rs780619000	1.53e-05	1.573e-05	1.518e-05	1.542e-05	1.907e-05	1.002e-05	8.55e-06	1.226e-05	1.04e-05	0	0	0	0	0	0	1.907e-05	1.68e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	70.44	48	chr22	50316266	.	T	G	70.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.834;DP=298;ExcessHet=0;FS=3.31;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=0.431;SOR=0.105	GT:AD:DP:GQ:PL	0/1:2,4:6:62:81,0,62	6	0	1	0	.
chrX	13043859	13043859	T	C	splicing	FAM9C	NM_174901:exon2:UTR5	.	.	.	429	1092	1	0	0	1	0.000457666	1.0000	0.646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	75.44	35	chrX	13043859	.	T	C	75.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.935;DP=198;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=-1.036;SOR=2.093	GT:AD:DP:GQ:PL	0/1:3,3:6:72:86,0,72	6	0	1	0	.
chrX	43958519	43958519	G	-	exonic	NDP	.	frameshift deletion	NDP:NM_000266:exon2:c.127delC:p.H43Tfs*61	Exudative vitreoretinopathy 2, X-linked;Norrie disease, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	34.4	34	chrX	43958518	.	TG	T	34.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.493;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.44;ReadPosRankSum=0.282;SOR=0.368	GT:AD:DP:GQ:PL	0/1:8,2:10:45:45,0,269	6	0	1	0	.
chrX	48258522	48258522	T	C	intronic	SSX1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0002	0	9.881e-05	7.76e-05	12	154602	rs782647012	7.971e-05	7.754e-05	8.254e-05	7.367e-05	0.0007	6.592e-05	6.073e-05	0.0002	0.0001	0	8.551e-05	0.0018	0	0	0.0007	4.179e-05	0.0002	1.871e-05	0.0002	0.0001	0.0002	9.195e-05	0.0002	9.759e-05	8.044e-05	6.182e-05	4.32e-05	3.298e-05	0	0.0002	0.0019	0	0	0.0093	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	152.44	34	chrX	48258522	.	T	C	152.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.282;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.94;ReadPosRankSum=-0.549;SOR=0.941	GT:AD:DP:GQ:PL	0/1:2,7:9:22:163,0,22	6	0	1	0	.
chrX	48478360	48478360	C	-	intronic	FTSJ1	.	.	.	Mental retardation, X-linked 9/44, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	31.4	35	chrX	48478359	.	TC	T	31.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.282;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.49;ReadPosRankSum=0;SOR=0.495	GT:AD:DP:GQ:PL	0/1:7,2:9:42:42,0,208	6	0	1	0	.
chrX	53546618	53546618	A	-	intronic	HUWE1	.	.	.	Mental retardation, X-linked syndromic, Turner type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	31.4	34	chrX	53546617	.	TA	T	31.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.66;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=2.85;ReadPosRankSum=0.66;SOR=0.527	GT:AD:DP:GQ:PL	0/1:9,2:11:42:42,0,303	6	0	1	0	.
chrX	54465926	54465926	C	A	intronic	FGD1	.	.	.	Aarskog-Scott syndrome, X-linked recessive;Mental retardation, X-linked syndromic 16, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.156e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	64.46	35	chrX	54465926	.	C	A	64.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=150;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.524;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:75:0|1:54465917_A_G:75,0,120:54465917	6	0	1	0	.
chrX	55014624	55014624	A	C	intronic	ALAS2	.	.	.	Anemia, sideroblastic, 1, X-linked recessive;Protoporphyria, erythropoietic, X-linked, X-linked dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.272e-06	9.163e-07	1.704e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	2.917e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	45.44	33	chrX	55014624	.	A	C	45.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.191;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.13;ReadPosRankSum=-0.381;SOR=0.693	GT:AD:DP:GQ:PL	0/1:8,3:11:56:56,0,199	6	0	1	0	.
chrX	70282346	70282346	G	A	intronic	RAB41	.	.	.	.	.	.	.	.	.	.	.	0.9994	0.916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	55.44	40	chrX	70282346	.	G	A	55.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.619;DP=282;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.93;ReadPosRankSum=0.992;SOR=0.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,2:8:66:0|1:70282346_G_A:66,0,246:70282346	6	0	1	0	.
chrX	70282348	70282348	G	A	intronic	RAB41	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.006	.	2829204	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	9.5e-05	.	8.031e-05	0	0.0002	0	0.0004	6.282e-05	0	0	5.17e-05	8	154602	rs371005848	5.649e-05	5.645e-05	6.125e-05	4.684e-05	8.522e-05	4.496e-05	4.081e-05	2.751e-05	2.354e-05	7.577e-05	8.522e-05	0	0	0.0006	0	3.802e-05	2.171e-05	0	9.85e-05	9.581e-05	0.0001	2.949e-05	0.0003	5.473e-05	4.25e-05	7.665e-05	4.064e-05	3.266e-05	0	0.0003	0	0	0.0005	0	7.535e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	.	.	.	.	.	.	.	.	0.07143	55.44	40	chrX	70282348	.	G	A	55.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.619;DP=282;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.93;ReadPosRankSum=0.992;SOR=0.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,2:8:66:0|1:70282346_G_A:66,0,246:70282346	6	0	1	0	C
chrX	70426850	70426850	C	-	intronic	GDPD2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	58.4	34	chrX	70426849	.	TC	T	58.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.068;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.34;ReadPosRankSum=-0.366;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:69:0|1:70426849_TC_T:69,0,204:70426849	6	0	1	0	.
chrX	70426855	70426855	A	T	intronic	GDPD2	.	.	.	.	.	.	.	.	.	.	.	0	0.056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	58.44	34	chrX	70426855	.	A	T	58.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.068;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.35;ReadPosRankSum=-0.366;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:69:0|1:70426849_TC_T:69,0,204:70426849	6	0	1	0	C
chrX	72206936	72206936	C	-	exonic	ERCC6L	.	frameshift deletion	ERCC6L:NM_017669:exon2:c.1831delG:p.E611Kfs*14,ERCC6L:NM_001009954:exon3:c.1462delG:p.E488Kfs*14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	40.4	37	chrX	72206935	.	TC	T	40.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.967;DP=233;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.04;ReadPosRankSum=-1.501;SOR=0.368	GT:AD:DP:GQ:PL	0/1:8,2:10:51:51,0,291	6	0	1	0	.
chrX	96763054	96763055	TT	-	intronic	DIAPH2	.	.	.	Premature ovarian failure	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1485297790	6.836e-06	0.0002	9.77e-06	0	0.0001	2e-06	1.46e-06	5.5e-07	2.1e-07	6.302e-05	0	0	0.0001	0	0	3.3e-06	3.712e-05	0	9.478e-06	8.888e-06	0	3.404e-05	3.412e-05	0	0	.	.	3.412e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1925.18	62	chrX	96763053	.	GTT	G	1925.18	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.197;DP=233;ExcessHet=0;FS=0.831;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.51;ReadPosRankSum=-1.535;SOR=0.824	GT:AD:DP:GQ:PL	1/0:0,2:8:36:228,155,150	6	0	1	0	.
chrX	100914708	100914708	C	T	exonic	XKRX	.	stopgain	XKRX:NM_212559:exon3:c.G980A:p.W327X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.14e-05	0	0	0	0	0	0	9.885e-05	1.29e-05	2	154602	rs746362606	9.106e-07	9.105e-07	0	2.75e-06	1.847e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.245	0.27673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.517502	0.94815	D	0.655873	0.98747	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.257174	0.97352	37	0.99677638716432504	0.79043	0.97656	0.76199	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999999995634	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.74	5.74	0.90070	5.832000	0.69048	7.705000	0.66497	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.890	0.92368	25	0.98345	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	67.44	36	chrX	100914708	.	C	T	67.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.465;DP=220;ExcessHet=0;FS=3.68;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=-2.189;SOR=0.061	GT:AD:DP:GQ:PL	0/1:3,4:7:78:78,0,89	6	0	1	0	.
chrX	118392690	118392690	T	G	exonic	WDR44	.	nonsynonymous SNV	WDR44:NM_001184966:exon3:c.T170G:p.L57W,WDR44:NM_001184965:exon4:c.T245G:p.L82W,WDR44:NM_019045:exon4:c.T245G:p.L82W	.	435	1086	1	0	0	1	0.000460193	.	.	.	3933232	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.216	0.123906867387	.	.	1.153e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs768336272	7.292e-06	7.284e-06	6.806e-06	8.277e-06	7.414e-05	3.14e-06	2.27e-06	2.529e-05	1.465e-05	0	0	0	0	0	0	2.377e-06	4.344e-05	7.414e-05	1.786e-05	1.739e-05	1.285e-05	2.926e-05	0.0004	2.97e-06	1.11e-06	.	.	0	0	9.521e-05	0	0	0	0	0	0	0.0004	0.037	0.43708	D	0.063	0.45110	T	0.981	0.59675	D	0.645	0.52270	P	0.024195	0.26306	N	0.348037	0.659577	0.30461	N	1.795	0.47270	L	-1.07	0.76948	T	-1.99	0.45949	N	0.541	0.56833	-0.4021	0.71960	T	0.327	0.69564	T	10	0.14754722	0.27956	T	0.123907	0.80516	D	0.216	0.50959	0.137	0.04097	0.430026717358	0.42623	0.2566185863851346	0.25575	0.778151250384	0.65137	0.357324570417	0.18995	T	0.240414	0.60874	T	-0.141087	0.29717	T	-0.284072	0.46386	T	0.440134386562264	0.30434	T	0.827217	0.49094	T	0.091508105	0.21444	0.17818081	0.40470	0.091508105	0.21443	0.17818081	0.40470	-7.449	0.57561	T	.	.	0.150	0.33273	B	.;.;.	.;.;.	3.665792	0.52099	23.2	0.95419256017515031	0.26896	0.96533	0.69615	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.945084719351446	0.27645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.84	4.66	0.57857	2.449000	0.44592	2.877000	0.35304	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1666:0.0:0.8334	7.901	0.28894	738	0.53389	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.000688	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.005263	0.07143	81.44	35	chrX	118392690	.	T	G	81.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.72;DP=188;ExcessHet=0;FS=2.632;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.4;ReadPosRankSum=1.83;SOR=0.991	GT:AD:DP:GQ:PL	0/1:8,3:11:92:92,0,200	6	0	1	0	.
chrX	153347781	153347781	A	-	exonic	ZNF275	.	frameshift deletion	ZNF275:NM_001367757:exon4:c.1096delA:p.K366Sfs*9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	34.4	36	chrX	153347780	.	CA	C	34.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.493;DP=239;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.44;ReadPosRankSum=-0.282;SOR=0.693	GT:AD:DP:GQ:PL	0/1:8,2:10:45:45,0,258	6	0	1	0	.