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	NSWES507-P	WT	HH	HZ	NC
chr1	1043684	1043684	G	A	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon9:c.G1750A:p.A584T	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.559	0.299979774039	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1329380952	9.665e-06	1.026e-05	8.249e-06	1.109e-05	8.964e-05	5.61e-06	4.39e-06	2.375e-05	1.258e-05	8.964e-05	6.709e-05	0	2.52e-05	0	0	5.397e-06	0	1.159e-05	3.942e-05	3.94e-05	0	8.069e-05	0.0004	1.715e-05	1.129e-05	7.279e-05	3.025e-05	0	0	0.0001	0	0	0	0	2.94e-05	0	0.0004	0.048	0.40068	D	0.084	0.41239	T	.	.	.	.	.	.	0.000335	0.45700	D	0.084069	0.999998	0.58761	D	2.31	0.66127	M	-1.15	0.77964	T	-2.24	0.50175	N	0.581	0.60241	0.199	0.85898	D	0.562	0.84087	D	10	0.6609792	0.70151	D	0.29998	0.90849	D	0.559	0.81888	0.624	0.75916	0.835460036063	0.83389	0.5625739280771369	0.56184	0.446594921837	0.44532	0.682146966457	0.64577	T	.	.	.	-0.0932921	0.37533	T	-0.174141	0.57063	T	0.43614387512207	0.30287	T	0.943606	0.78679	D	.	.	.	.	.	.	.	.	-9.661	0.71857	D	.	.	0.485	0.63914	A	.;.	.;.	4.190577	0.63158	24.5	0.99865887251198127	0.94366	0.97752	0.76876	D	AEFBHI	0.661063	0.63142	D	0.443706177849099	0.63845	4.626508	0.344769211381133	0.58193	3.988466	0.999998619089316	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.04	4.04	0.46262	4.286000	0.58788	8.451000	0.77220	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.238000	0.22948	0.0:0.0:1.0:0.0	16.548	0.84305	940	0.13648	.;Kazal domain|Kazal domain|Factor I / membrane attack complex|Kazal 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	.	.	.	.	.	.	.	.	0.08333	1477.83	45	chr1	1043684	.	G	A	1477.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.297;DP=300;ExcessHet=0;FS=2.596;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=1.51;SOR=0.968	GT:AD:DP:GQ:PL	0/1:45,54:99:99:1488,0,1137	5	0	1	0
chr1	1482207	1482207	C	T	exonic	ATAD3B	.	nonsynonymous SNV	ATAD3B:NM_001317238:exon4:c.C446T:p.A149V,ATAD3B:NM_031921:exon6:c.C584T:p.A195V	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	.	.	0.00459265	0.0026	0	0.0004	0.0327	0	6.514e-05	0	0.0010	0.0021216	328	154602	rs181312132	0.0009	0.0009	0.0009	0.0009	0.0286	0.0009	0.0009	0.0272	0.0267	2.99e-05	0.0003	0	0.0286	0	0.0013	3.599e-05	0.0010	0.0010	0.0010	0.0010	0.0008	0.0012	0.0265	0.0009	0.0008	0.0229	0.0215	0	0	0.0004	0	0.0265	0	0	5.886e-05	0	0.0008	0.118	0.28148	T	0.17	0.30436	T	1.0	0.90584	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.07	0.87108	M	0.35	0.58029	T	-3.24	0.65171	D	0.639	0.65159	-0.3759	0.72780	T	0.215	0.57639	T	10	0.009803563	0.00220	T	.	.	.	0.273	0.58883	.	.	0.766210966302	0.76407	0.1659965038648546	0.16519	1.54287570271	0.87751	0.782790541649	0.79349	T	0.114583	0.43251	T	-0.318744	0.07001	T	-0.207633	0.53922	T	0.121414711973613	0.14567	T	0.967503	0.88224	D	0.22437184	0.45078	0.18318431	0.41292	0.22437184	0.45078	0.18318431	0.41291	-10.458	0.76605	D	.	.	.	.	.	.	.	4.545635	0.71494	25.7	0.99884703569161259	0.96049	0.98693	0.85659	D	AEFBI	0.612589	0.60060	D	0.31101606608982	0.56714	3.836532	0.0829803154257199	0.43692	2.665816	0.99967153748467	0.41644	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	2.38	2.38	0.28415	7.403000	0.79217	7.567000	0.60617	0.415000	0.20742	1.000000	0.71638	1.000000	0.68203	0.041000	0.14368	0.0:1.0:0.0:0.0	12.141	0.53300	856	0.34373	ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2179.83	38	chr1	1482207	.	C	T	2179.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.226;DP=379;ExcessHet=0;FS=7.891;MLEAC=1;MLEAF=0.083;MQ=53.71;MQRankSum=-2.771;QD=12.98;ReadPosRankSum=-3.847;SOR=0.888	GT:AD:DP:GQ:PL	0/1:75,93:168:99:2190,0,1764	5	0	1	0
chr1	1632367	1632367	C	T	exonic	MMP23B	.	nonsynonymous SNV	MMP23B:NM_006983:exon1:c.C149T:p.A50V	.	448	1072	2	0	0	2	0.000931966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.199010926694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.092e-06	9.577e-06	7.879e-06	8.317e-06	0.0006	4.09e-06	2.98e-06	0.0001	4.21e-05	4.196e-05	0	0	0	0	0.0006	5.915e-06	1.965e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.91255	T	0.292	0.92824	T	0.0	0.12996	B	0.001	0.10090	B	0.111471	0.02643	U	2.132630	1	0.08975	N	0.46	0.12951	N	1.81	0.32238	T	-0.69	0.71639	N	0.087	0.07398	-1.0233	0.22638	T	0.043	0.18535	T	10	0.111730516	0.20933	T	0.199011	0.86628	D	0.014	0.01968	0.394	0.41935	0.148003135375	0.14442	0.368091405957344	0.36723	.	.	0.782355427742	0.79284	T	0.09337	0.39196	T	-0.187883	0.22570	T	-0.507657	0.21557	T	0.041832622140646	0.04024	T	0.531447	0.20620	T	0.041243166	0.06037	0.0429006	0.05217	0.041243166	0.06037	0.0429006	0.05217	-5.135	0.38274	T	.	.	0.087	0.56065	B	.;.;.	.;.;.	0.974860	0.13522	10.04	0.92315899344041519	0.21709	0.01811	0.05641	N	AEFDBI	0.089174	0.18075	N	-1.0719878594101	0.07163	0.3319338	-1.133577423688	0.07066	0.3423594	0.999555360697297	0.40362	0.65757	0.49021	0	0.578056	0.33634	0	0.619478	0.44681	0	0.63947	0.58350	0	.	.	2.93	-0.523	0.11329	0.288000	0.18695	-0.307000	0.10069	0.500000	0.22704	0.002000	0.15269	0.000000	0.08366	0.060000	0.15972	0.169:0.4555:0.1469:0.2286	1.636	0.02577	814	0.42100	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	118.85	11	chr1	1632367	.	C	T	118.85	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.366;DP=55;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=0.231;SOR=1.179	GT:AD:DP:GQ:PL	0/1:5,4:9:99:129,0,149	5	0	1	0
chr1	2303002	2303002	A	G	exonic	SKI	.	nonsynonymous SNV	SKI:NM_003036:exon2:c.A994G:p.I332V	Shprintzen-Goldberg syndrome, Autosomal dominant	1	1509	12	0	0	12	0.0039604	.	.	.	498383	Shprintzen-Goldberg_syndrome|not_specified|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|not_provided	MONDO:MONDO:0008426,MedGen:C1321551,OMIM:182212,Orphanet:2462|MedGen:CN169374|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.183	0.0775763579582	7.7e-05	0.000599042	0.0005	0	8.646e-05	0	0	0.0001	0.0011	0.0031	0.0004269	66	154602	rs374264201	0.0003	0.0003	0.0002	0.0004	0.0035	0.0003	0.0003	0.0032	0.0031	2.987e-05	0.0002	0	0	0	0.0029	7.734e-05	0.0003	0.0035	0.0002	0.0002	5.139e-05	0.0003	0.0037	0.0001	8.712e-05	0.0024	0.0020	0	0	0	0	0	0	0.0068	4.411e-05	0	0.0037	0.883	0.02526	T	0.524	0.10317	T	0.0	0.02946	B	0.0	0.01387	B	0.002127	0.37183	N	0.243553	1	0.08975	N	1.7	0.43825	L	-3.71	0.95387	D	0.05	0.06369	N	0.113	0.10056	-0.3457	0.73678	T	0.618	0.86510	D	10	0.0066333413	0.00150	T	0.077576	0.72804	D	0.183	0.45592	.	.	0.377493895363	0.37364	0.1677311722210252	0.16693	0.165890362005	0.18718	0.49287623167	0.37837	T	0.233545	0.60037	T	-0.386068	0.02851	T	-0.327857	0.41708	T	0.0132491707428756	0.00236	T	0.655934	0.26583	T	0.01160226	0.00019	0.020436954	0.00136	0.01160226	0.00019	0.020436954	0.00136	-2.378	0.05000	T	.	.	0.058	0.00717	B	.	.	0.465129	0.08349	5.099	0.77252371201563697	0.11799	0.68202	0.33713	D	AEFDBCI	0.080514	0.16280	N	-0.573359457152021	0.19757	1.036516	-0.456975285758591	0.23351	1.272968	0.998370341370053	0.36850	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.86	-0.499	0.11416	1.781000	0.38274	-0.170000	0.11235	0.738000	0.86027	0.998000	0.41325	0.001000	0.17328	0.996000	0.76049	0.5076:0.3155:0.1769:0.0	4.591	0.11697	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.000000	0.005848	0.000000	0.008621	0.000000	0.000000	0.08333	796.83	34	chr1	2303002	.	A	G	796.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.243;DP=261;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.05;ReadPosRankSum=-0.249;SOR=0.711	GT:AD:DP:GQ:PL	0/1:51,37:88:99:807,0,1207	5	0	1	0
chr1	2591992	2591992	G	T	exonic	MMEL1	.	nonsynonymous SNV	MMEL1:NM_033467:exon22:c.C2103A:p.D701E	.	410	1077	34	1	0	36	0.0164384	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	.	0.0002	0.00479233	0.0039	0.0003	0.0020	0	0.0009	0.0007	0.0068	0.0234	0.0032923	509	154602	rs139941953	0.0020	0.0020	0.0012	0.0027	0.0241	0.0019	0.0019	0.0233	0.0229	0.0002	0.0017	0.0004	5.038e-05	0.0016	0.0087	0.0004	0.0023	0.0241	0.0013	0.0013	0.0008	0.0017	0.0245	0.0011	0.0011	0.0209	0.0195	4.815e-05	0	0.0020	0.0003	0.0002	0.0010	0.0034	0.0004	0.0024	0.0245	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.047	0.24832	B	0.000104	0.50451	D	0.169147	0.978157	0.25267	N	-0.8	0.01622	N	-2.27	0.87433	D	1.2	0.01551	N	0.116	0.13626	-0.7463	0.58128	T	0.119	0.41799	T	10	0.0022487938	0.00033	T	.	.	.	0.202	0.48754	0.318	0.29581	0.15556083564	0.15200	0.336983864726798	0.33611	0.197538282878	0.22128	0.356063842773	0.18811	T	0.251541	0.62180	T	-0.500915	0.00565	T	-0.474053	0.25082	T	0.00519120197706073	0.00056	T	0.641436	0.25361	T	0.02935999	0.02419	0.039899465	0.04190	0.02935999	0.02418	0.039899465	0.04190	-0.089	0.00382	T	.	.	0.265	0.49950	B	.;.	.;.	0.215240	0.05983	2.423	0.81869607158816715	0.13902	0.08265	0.14217	N	AEFDBI	0.128674	0.24654	N	-1.30047499016735	0.03671	0.1643771	-1.22291144834836	0.05543	0.264422	0.997556911042802	0.35751	0.554377	0.28877	0	0.547309	0.14657	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	3.86	-3.73	0.04112	-0.229000	0.09106	-1.143000	0.06203	0.676000	0.76740	0.100000	0.22794	0.000000	0.08366	0.948000	0.49324	0.2739:0.3106:0.2003:0.2152	0.592	0.00682	835	0.38313	Peptidase M13, C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006559	0.005051	0.000000	0.008824	0.000000	0.017241	0.006135	0.018939	0.1667	1519.06	36	chr1	2591992	.	G	T	1519.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.851;DP=265;ExcessHet=0.4139;FS=3.312;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=1.17;SOR=1.052	GT:AD:DP:GQ:PL	0/1:31,22:53:99:580,0,797	4	0	2	0
chr1	5874953	5874953	C	T	exonic	NPHP4	.	nonsynonymous SNV	NPHP4:NM_001291594:exon17:c.G1429A:p.E477K,NPHP4:NM_001291593:exon18:c.G1426A:p.E476K,NPHP4:NM_015102:exon21:c.G2965A:p.E989K	Nephronophthisis 4, Autosomal recessive;Senior-Loken syndrome 4, Autosomal recessive	0	1514	6	2	0	10	0.00329164	.	.	.	192769	NPHP4-related_disorder|Nephronophthisis_4|Senior-Loken_syndrome_4|not_provided|Nephronophthisis	MedGen:CN239384|MONDO:MONDO:0011752,MedGen:C1847013,OMIM:606966,Orphanet:655|MONDO:MONDO:0011756,MedGen:C1846979,OMIM:606996,Orphanet:3156|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.710	0.184847226584	0.0008	0.000399361	0.0004	0.0016	0.0005	0	0	0.0003	0.0011	0.0004	0.0003558	55	154602	rs116606479	0.0003	0.0003	0.0002	0.0003	0.0031	0.0002	0.0002	0.0020	0.0017	0.0019	0.0004	0	5.038e-05	0	0.0031	0.0002	0.0005	0.0008	0.0006	0.0006	0.0007	0.0005	0.0017	0.0005	0.0005	0.0014	0.0013	0.0017	0	0.0005	0	0	9.414e-05	0	0.0002	0.0005	0.0004	0.011	0.55530	D	0.005	0.72224	D	1.0	0.90584	D	0.997	0.86255	D	0.000001	0.62929	D	0.000000	0.999997	0.58761	D	2.85	0.82803	M	-2.47	0.88997	D	-3.03	0.62747	D	0.88	0.87808	0.790	0.94293	D	0.818	0.93855	D	10	0.36386117	0.52946	T	0.184847	0.85775	D	0.710	0.89650	.	.	0.950601828321	0.95007	0.9570523849875564	0.95690	0.40685214115	0.41558	0.629665255547	0.57097	T	0.412867	0.76690	T	0.0349098	0.56376	T	0.271202	0.86638	D	0.0359958903912502	0.02980	T	0.941106	0.78031	D	0.404333	0.61031	0.3165187	0.57632	0.404333	0.61032	0.3165187	0.57631	-8.799	0.66394	D	0.9683484300509582	0.99007	0.381	0.58499	A	.	.	4.384530	0.67615	25.1	0.99898701808799517	0.97124	0.97398	0.74496	D	AEFDBI	0.736353	0.68189	D	0.602642657694672	0.73340	5.950391	0.508635300115199	0.68569	5.23831	0.999999999704018	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.95	4.95	0.64894	5.872000	0.69384	7.459000	0.59036	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.086000	0.17578	0.0:1.0:0.0:0.0	17.222	0.86843	952	0.10565	.	.	.	.	.	.	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	0.001008	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1137.83	36	chr1	5874953	.	C	T	1137.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.685;DP=269;ExcessHet=0;FS=0.786;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-2.088;SOR=0.606	GT:AD:DP:GQ:PL	0/1:43,45:88:99:1148,0,1012	5	0	1	0
chr1	6209009	6209009	C	A	exonic	RNF207	.	nonsynonymous SNV	RNF207:NM_207396:exon4:c.C453A:p.D151E	.	426	1082	13	1	0	15	0.00688389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00597621366876	0.0004	0.000199681	0.0016	0.0013	0.0059	0	0	0.0024	0.0081	0.0012	0.0003428	53	154602	rs200960066	0.0008	0.0007	0.0007	0.0008	0.0140	0.0007	0.0007	0.0113	0.0103	0.0022	0.0017	0.0043	0	3.144e-05	0.0140	0.0005	0.0022	0.0009	0.0012	0.0012	0.0010	0.0014	0.0016	0.0010	0.0010	0.0012	0.0011	0.0015	0	0.0016	0.0072	0	0	0.0074	0.0007	0.0045	0.0005	0.327	0.13262	T	0.566	0.08930	T	0.14	0.27540	B	0.031	0.21939	B	0.009273	0.30438	U	0.122294	1	0.81001	D	0.93	0.23535	L	2.38	0.15843	T	-0.65	0.18877	N	0.088	0.06587	-0.9680	0.37612	T	0.019	0.07800	T	10	0.0057443082	0.00128	T	0.005976	0.15579	T	0.034	0.08419	0.35	0.34760	0.318828661733	0.31499	0.1485309211915922	0.14775	0.178873010165	0.20123	0.763267576694	0.76417	T	0.001381	0.00849	T	-0.578338	0.00197	T	-0.610303	0.11961	T	0.0140837785508234	0.00274	T	0.589541	0.21661	T	0.10853479	0.25661	0.05490972	0.09533	0.10853479	0.25661	0.05490972	0.09532	-3.938	0.22873	T	.	.	0.135	0.29200	B	.	.	1.348756	0.17559	13.24	0.95486077280886583	0.27056	0.59794	0.31014	D	AEFDGBHCI	0.174812	0.30196	N	-0.735030589552303	0.15042	0.7546489	-0.63410195666783	0.18619	0.9954528	0.999999999858103	0.74766	0.72623	0.87236	0	0.594344	0.48745	0	0.619478	0.44681	0	0.604282	0.37693	0	.	.	4.94	-2.23	0.06539	-0.202000	0.09453	-1.747000	0.04800	0.599000	0.40250	0.775000	0.29414	0.000000	0.08366	0.995000	0.73285	0.0:0.5216:0.0:0.4784	10.592	0.44502	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.020279	0.028986	0.030822	0.031034	0.000000	0.000000	0.007692	0.005000	0.08333	418.83	34	chr1	6209009	.	C	A	418.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.662;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=-0.19;SOR=0.507	GT:AD:DP:GQ:PL	0/1:19,19:38:99:429,0,512	5	0	1	0
chr1	6469147	6469149	TCT	-	exonic	PLEKHG5	.	nonframeshift deletion	PLEKHG5:NM_001042664:exon19:c.2142_2144del:p.E723del,PLEKHG5:NM_001042665:exon19:c.2142_2144del:p.E723del,PLEKHG5:NM_001265593:exon19:c.2349_2351del:p.E792del,PLEKHG5:NM_001265594:exon19:c.2142_2144del:p.E723del,PLEKHG5:NM_020631:exon19:c.2142_2144del:p.E723del,PLEKHG5:NM_001042663:exon20:c.2253_2255del:p.E760del,PLEKHG5:NM_001265592:exon20:c.2253_2255del:p.E760del,PLEKHG5:NM_198681:exon20:c.2142_2144del:p.E723del	Charcot-Marie-Tooth disease, recessive intermediate C, Autosomal recessive;Spinal muscular atrophy, distal, autosomal recessive, 4, Autosomal recessive	3	1517	2	0	0	2	0.000658762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.652e-05	0	0	0	0	3.004e-05	0	0	1.29e-05	2	154602	rs770809301	8.327e-06	8.26e-06	5.525e-06	1.115e-05	0.0002	4.44e-06	3.51e-06	1.97e-06	1.29e-06	0	0	0	0	0	0.0002	5.472e-06	6.699e-05	1.173e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1417.79	36	chr1	6469146	.	CTCT	C	1417.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.51;DP=358;ExcessHet=0;FS=1.783;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.49;ReadPosRankSum=-0.609;SOR=0.488	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,40:86:99:1|0:6469128_C_T:1428,0,1745:6469128	5	0	1	0
chr1	7933282	7933282	T	C	exonic	TNFRSF9	.	nonsynonymous SNV	TNFRSF9:NM_001561:exon7:c.A559G:p.I187V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00270495129526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.06147	T	0.002	0.09854	B	0.001	0.04355	B	0.030551	0.01722	N	2.226600	1	0.08975	N	0.22	0.09567	N	3.34	0.38883	T	-0.08	0.08187	N	0.064	0.03613	-0.9649	0.38230	T	0.008	0.02926	T	10	0.039113462	0.02377	T	0.002705	0.05550	T	0.009	0.00846	0.276	0.22845	0.0954503805726	0.09146	0.14244755294639133	0.14167	0.0755766024316	0.08479	0.303215026855	0.10881	T	0.091535	0.38816	T	-0.396887	0.02426	T	-0.807877	0.01713	T	0.0528059709509316	0.05985	T	0.343166	0.08297	T	0.014398486	0.00092	0.024658427	0.00489	0.014398486	0.00092	0.024658427	0.00489	-3.107	0.11376	T	.	.	0.082	0.20117	B	.;.;.	.;.;.	-2.656894	0.00022	0.001	0.31864493878579497	0.01817	0.00640	0.02800	N	AEFBI	0.053752	0.09712	N	-1.55403076293908	0.01511	0.06599016	-1.62642963533454	0.01502	0.06801238	0.1723792661722	0.17755	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.43	-6.6	0.01657	-4.246000	0.00304	-7.248000	0.01198	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.131000	0.19607	0.269:0.3775:0.1367:0.2167	1.562	0.02441	804	0.43891	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	61.04	27	chr1	7933282	.	T	C	61.04	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-0.973;DP=162;ExcessHet=0.4139;FS=21.967;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=1;ReadPosRankSum=0.72;SOR=4.357	GT:AD:DP:GQ:PL	0/1:25,9:34:47:47,0,411	3	0	2	1
chr1	10326244	10326244	G	A	exonic	KIF1B	.	nonsynonymous SNV	KIF1B:NM_015074:exon25:c.G2671A:p.E891K,KIF1B:NM_001365951:exon27:c.G2809A:p.E937K,KIF1B:NM_001365952:exon27:c.G2809A:p.E937K	Pheochromocytoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434	0.0702147198646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.40068	T	0.031	0.53788	D	0.974	0.57829	D	0.953	0.69275	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.765	0.45800	L	-0.8	0.74793	T	-1.95	0.47344	N	0.842	0.86297	-0.1741	0.78328	T	0.495	0.80854	T	10	0.7175096	0.73443	D	0.070215	0.70941	D	0.434	0.73951	0.267	0.21418	0.854749708288	0.85335	0.7995837043823811	0.79912	1.31774924333	0.83370	0.870485365391	0.92638	D	0.402952	0.75983	T	0.313264	0.83988	D	0.212206	0.83779	D	0.895268738269806	0.54679	D	0.990041	0.96927	D	0.4144187	0.61718	0.37101015	0.62339	0.4144187	0.61719	0.37101015	0.62339	-12.881	0.89052	D	.	.	0.391	0.62221	A	.;.;.;.;.	.;.;.;.;.	5.153233	0.86316	28.9	0.99879548282218389	0.95572	0.99208	0.92825	D	AEFGBI	0.899206	0.84333	D	0.534574101761821	0.69150	5.316186	0.632757527234062	0.77333	6.658991	0.999999999999494	0.74766	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	5.6	5.6	0.84997	9.602000	0.97623	11.794000	0.96459	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.620	0.95646	229	0.91079	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1750.23	207	chr1	10326244	.	G	A	1750.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-5.566;DP=810;ExcessHet=3.1439;FS=242.254;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.75;ReadPosRankSum=1.34;SOR=10.087	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,30:128:99:0|1:10326244_G_A:216,0,3600:10326244	5	0	1	0
chr1	11073948	11073948	T	C	exonic	EXOSC10	.	nonsynonymous SNV	EXOSC10:NM_001001998:exon19:c.A2143G:p.T715A	.	437	1084	1	0	0	1	0.000461042	.	.	.	2805695	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.052	0.00414446886988	0.0024	0.00139776	0.0016	0.0005	0.0015	0	0.0003	0.0025	0	6.069e-05	0.0019081	295	154602	rs115976717	0.0034	0.0034	0.0035	0.0034	0.0042	0.0033	0.0033	0.0041	0.0040	0.0008	0.0021	0.0006	0	0.0002	0.0007	0.0042	0.0035	0.0002	0.0021	0.0022	0.0024	0.0018	0.0038	0.0020	0.0019	0.0034	0.0033	0.0007	0	0.0017	0.0009	0.0002	0.0002	0	0.0038	0.0029	0.0002	0.091	0.31834	T	0.362	0.16865	T	0.009	0.15093	B	0.006	0.12133	B	0.000016	0.62929	D	0.121114	1	0.81001	D	1.04	0.26193	L	.	.	.	-0.56	0.17003	N	0.208	0.23125	-1.0674	0.09994	T	0.073	0.29643	T	9	0.009223729	0.00208	T	0.004144	0.09931	T	0.052	0.14661	.	.	0.529763130185	0.52623	0.2197957353474885	0.21895	0.218849740323	0.24425	0.388834863901	0.23505	T	0.174343	0.52354	T	-0.52614	0.00405	T	-0.522849	0.20008	T	0.00859158571604889	0.00105	T	0.89841	0.64469	D	0.076230414	0.17225	0.050221756	0.07840	0.076230414	0.17225	0.050221756	0.07839	-3.033	0.10541	T	.	.	0.083	0.09045	B	.	.	3.619695	0.51223	23.1	0.98443729807833746	0.41542	0.89644	0.50241	D	AEFDBI	0.464222	0.51281	N	-0.493542629662982	0.22291	1.189278	-0.33723812345208	0.26907	1.489321	0.999493985612249	0.40007	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.69	4.57	0.55860	4.326000	0.59028	9.093000	0.78751	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.973000	0.55318	0.6708:0.0:0.0:0.3292	9.208	0.36462	485	0.77085	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001009	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	405.83	63	chr1	11073948	.	T	C	405.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.236;DP=262;ExcessHet=0;FS=4.581;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.66;ReadPosRankSum=-1.706;SOR=0.458	GT:AD:DP:GQ:PL	0/1:25,17:42:99:416,0,679	5	0	1	0
chr1	13050118	13050118	A	G	exonic	PRAMEF27	.	nonsynonymous SNV	PRAMEF27:NM_001300891:exon4:c.T1127C:p.L376P	.	565	955	2	0	0	2	0.00104603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.00317095414753	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1218551659	2.804e-05	2.751e-05	2.42e-05	3.189e-05	0.0003	2.069e-05	1.806e-05	2.424e-05	2.138e-05	0	0	0	0	0	0.0003	3.368e-05	1.82e-05	1.302e-05	1.083e-05	7.05e-06	0	2.274e-05	1.896e-05	0	0	.	.	0	0	0	0	0	0	0	1.896e-05	0	0	.	.	.	0.013	0.63109	D	.	.	.	.	.	.	0.000423	0.44522	D	0.091774	0.999615	0.81001	D	.	.	.	.	.	.	.	.	.	0.741	0.74098	-1.1523	0.00958	T	0.021	0.08778	T	10	0.7573215	0.76081	D	0.003171	0.06936	T	.	.	.	.	0.443695250439	0.43992	0.8449039722356115	0.84451	.	.	.	.	.	0.415447	0.76870	T	0.187585	0.72741	D	0.0316763	0.72387	D	0.96130944873236	0.66045	D	.	.	.	0.4681864	0.65179	0.3809994	0.63119	0.4681864	0.65180	0.3809994	0.63119	-10.512	0.76916	D	.	.	0.754	0.75217	P	.	.	3.837921	0.55523	23.6	0.99705592103526719	0.80936	0.42952	0.26991	N	AEFI	0.161593	0.28767	N	0.228420737593468	0.52581	3.431314	-0.0249699992766916	0.38591	2.275801	2.03028728933163E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.21	1.21	0.20240	2.960000	0.48853	6.494000	0.55767	0.347000	0.19874	0.985000	0.35982	0.768000	0.26677	0.498000	0.28972	1.0:0.0:0.0:0.0	4.584	0.11666	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.050562	0.066667	0.037594	0.071429	0	0.000000	0.060976	0.041667	0.08333	496.86	5	chr1	13050118	.	A	G	496.86	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.498;DP=191;ExcessHet=0;FS=9.587;MLEAC=1;MLEAF=0.083;MQ=32.09;MQRankSum=1.5;QD=12.74;ReadPosRankSum=0.437;SOR=3.362	GT:AD:DP:GQ:PL	0/1:21,18:39:99:507,0,583	5	0	1	0
chr1	15559540	15559540	G	C	exonic	DNAJC16	.	nonsynonymous SNV	DNAJC16:NM_001287811:exon7:c.G102C:p.K34N,DNAJC16:NM_015291:exon8:c.G1038C:p.K346N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0328347890655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0033	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	9.11e-05	2.242e-05	0.0002	0.0002	0.0002	0	0.0003	0.0002	6.995e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.40832	T	0.002	0.83351	D	0.998	0.73220	D	0.852	0.60758	P	0.000001	0.84330	D	0.092863	0.978976	0.25213	N	2.62	0.76659	M	2.29	0.17113	T	-1.14	0.29323	N	0.808	0.81658	-1.0776	0.07821	T	0.076	0.30492	T	10	0.615474	0.67681	D	0.032835	0.54554	D	0.109	0.30843	0.288	0.24761	0.361160317528	0.35726	0.7971393182230749	0.79666	0.675634459511	0.59719	0.593763709068	0.52025	T	0.024746	0.32281	T	-0.129001	0.31658	T	-0.423077	0.30724	T	0.763135969638824	0.44033	D	0.957038	0.84692	D	0.17311552	0.38042	0.10023495	0.23959	0.17311552	0.38041	0.10023495	0.23958	-3.109	0.43915	T	.	.	0.535	0.66159	A	.;.;.;.	.;.;.;.	4.221675	0.63864	24.6	0.99651966654979685	0.77380	0.89772	0.50455	D	AEFDGBCI	0.332943	0.43219	N	0.165367727067141	0.49541	3.153414	0.114872783977894	0.45307	2.796318	0.999975053923645	0.50053	0.722319	0.85440	0	0.653731	0.59785	0	0.698795	0.65105	0	0.674467	0.66132	0	.	.	5.95	4.1	0.47196	2.185000	0.42215	3.965000	0.40779	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.796000	0.37562	0.2241:0.0:0.7759:0.0	9.034	0.35440	906	0.23090	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	108.7	75	chr1	15559540	.	G	C	108.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-3.889;DP=597;ExcessHet=0;FS=264.778;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.25;ReadPosRankSum=-0.019;SOR=9.25	GT:AD:DP:GQ:PL	0/1:67,20:98:99:118,0,1549	4	0	1	1
chr1	16563946	16563946	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	400	294	827	1	0	829	0.585039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1105	.	0.2789	0.2174	0.2967	0.1361	0.3057	0.2989	0.2631	0.2918	0.0008473	131	154602	rs3863779	0.0001	0.0001	0.0003	0	0.0012	0	0	.	.	0	0	0	.	0	0	0	0	0.0012	0	0.0026	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.336496	0.271084	0.351499	0.376068	0.277778	0.344828	0.297297	0.384000	0.25	3686.12	541	chr1	16563946	.	C	T	3686.12	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.933;DP=3724;ExcessHet=1.383;FS=0;MLEAC=3;MLEAF=0.25;MQ=59.54;MQRankSum=-8.143;QD=2.36;ReadPosRankSum=0.349;SOR=0.825	GT:AD:DP:GQ:PL	0/1:416,67:483:99:671,0,12270	3	0	3	0
chr1	16563989	16563989	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	391	314	816	1	0	818	0.565698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3891	0.2879	0.4120	0.2492	0.4146	0.4143	0.3885	0.3951	0.0044437	687	154602	rs12117084	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0.0016	0.0027	0.0029	0	0.0030	0	0	.	.	0	.	0	0	.	0	0	0.0030	0	0	.	.	.	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353	0.39457	.	.	.	.	.	.	.	0.0024681687	0.00037	T	.	.	.	.	.	.	.	.	.	0.02352237282194909	0.02304	.	.	0.575379014015	0.49435	T	.	.	.	-0.455599	0.01046	T	-0.892213	0.00559	T	.	.	.	0.687031	0.29593	T	.	.	.	.	.	.	.	.	-3.451	0.15752	T	.	.	0.172	0.37820	B	.	.	0.069283	0.04780	1.396	0.1972110124842818	0.00678	0.00975	0.03723	N	AEFDBCIJ	0.029075	0.02679	N	.	.	.	.	.	.	7.36511087105358E-4	0.07723	0.383005	0.05895	0	0.332388	0.05802	1	0.457825	0.06646	0	0.467017	0.07116	0	.	.	0.566	0.566	0.16501	-0.694000	0.05217	-10.261000	0.00721	-1.511000	0.01016	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.358989	0.280488	0.387978	0.366379	0.277778	0.379310	0.324138	0.412000	0.25	5064.03	698	chr1	16563989	.	G	C	5064.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.551;DP=4498;ExcessHet=1.383;FS=0;MLEAC=3;MLEAF=0.25;MQ=59.84;MQRankSum=-4.067;QD=2.43;ReadPosRankSum=-0.537;SOR=0.817	GT:AD:DP:GQ:PL	0/1:537,97:634:99:1029,0,15074	3	0	3	0
chr1	16564107	16564107	T	G	exonic	NBPF1	.	unknown	UNKNOWN	.	383	318	815	6	0	827	0.565277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4042	0.4090	0.4331	0.2091	0.4092	0.4156	0.4105	0.4299	0.0114492	298	26028	rs2990551	0	0.0008	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0042	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.218	0.26066	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.17828	.	.	.	.	.	.	.	0.005626291	0.00125	T	.	.	.	.	.	.	.	.	.	0.015489301517433041	0.01504	.	.	0.533775627613	0.43567	T	.	.	.	-0.499041	0.00579	T	-0.954615	0.00248	T	.	.	.	0.465553	0.17787	T	.	.	.	.	.	.	.	.	-2.062	0.03424	T	.	.	0.177	0.38676	B	.;.	.;.	-0.174163	0.03224	0.539	0.25431419136250621	0.01172	0.01395	0.04735	N	AEFDBHCI	0.031569	0.03403	N	.	.	.	.	.	.	7.84172557205885E-4	0.07810	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	-0.849	0.10181	-0.576000	0.05947	-14.342000	0.00409	-0.599000	0.04621	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.364819	0.306250	0.372283	0.388889	0.187500	0.405172	0.335714	0.360000	0.3333	27548.0	710	chr1	16564107	.	T	G	27548.0	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.125;DP=4528;ExcessHet=3.1439;FS=1.2;MLEAC=4;MLEAF=0.333;MQ=55.43;MQRankSum=10.37;QD=9.21;ReadPosRankSum=-0.193;SOR=0.834	GT:AD:DP:GQ:PL	0/1:491,138:629:99:3477,0,17839	2	0	4	0
chr1	16564112	16564112	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	382	776	360	4	0	368	0.191667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0308	.	0.2106	0.0561	0.2861	0.0502	0.2065	0.2398	0.2097	0.2357	0.0002305	6	26028	rs200783506	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0008	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.031	0.54934	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.28264	.	.	.	.	.	.	.	0.0030666888	0.00051	T	.	.	.	.	.	.	.	.	.	0.05765086588271105	0.05706	.	.	0.524779081345	0.42300	T	.	.	.	-0.62494	0.00103	T	-0.595706	0.13176	T	.	.	.	0.79772	0.47570	T	.	.	.	.	.	.	.	.	-5.516	0.42017	T	.	.	0.264	0.49845	B	.;.	.;.	0.535560	0.09040	5.825	0.31427375372166372	0.01770	0.01195	0.04267	N	AEFDBHCI	0.026313	0.01952	N	.	.	.	.	.	.	5.56753264327555E-4	0.07304	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	0.566	0.16501	-1.612000	0.02163	-12.383000	0.00529	-0.617000	0.04568	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.122310	0.050633	0.116848	0.149573	0.000000	0.129310	0.113475	0.169355	0.25	6034.03	550	chr1	16564112	.	G	A	6034.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.6;DP=4304;ExcessHet=1.383;FS=1.499;MLEAC=3;MLEAF=0.25;MQ=54.9;MQRankSum=6.08;QD=2.7;ReadPosRankSum=-0.91;SOR=0.806	GT:AD:DP:GQ:PL	0/1:545,73:618:99:362,0,21693	3	0	3	0
chr1	16564144	16564144	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	396	90	1031	5	0	1041	0.85258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	0.3425	0.4588	0.4722	0.4820	0.4666	0.4640	0.4780	0.0474489	1235	26028	rs1043750	0.0010	0.0018	0.0014	0.0006	0.0011	0.0005	0.0004	0.0006	0.0004	0	0	0	.	0.0027	0	0.0011	0.0016	0	0	0.0038	0	0	.	0	0	.	.	.	.	0	.	.	0	.	0	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.428814	0.400000	0.425272	0.420168	0.375000	0.439655	0.440559	0.455645	0.5	31748.6	546	chr1	16564144	.	C	T	31748.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-3.623;DP=3888;ExcessHet=11.5949;FS=1.946;MLEAC=6;MLEAF=0.5;MQ=54.06;MQRankSum=-16.19;QD=8.4;ReadPosRankSum=0.566;SOR=0.858	GT:AD:DP:GQ:PL	0/1:371,111:482:99:2072,0,12558	0	0	6	0
chr1	16564149	16564149	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	397	86	1030	9	0	1048	0.859016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	0.4863	0.4979	0.4883	0.4979	0.4937	0.49	0.4947	0.0530967	1382	26028	rs2992339	0.0004	0.0011	0.0002	0.0006	0.0006	0.0001	8.492e-05	0.0002	0.0001	0	0	0	.	0	0	0.0006	0	0	0	0.0048	0	0	.	0	0	.	.	.	.	0	.	.	.	.	0	.	0	.	.	.	0.027	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.0017973781	0.00024	T	.	.	.	.	.	.	.	.	.	0.0179163774864188	0.01745	.	.	0.506860494614	0.39783	T	.	.	.	-0.443409	0.01235	T	-0.874703	0.00699	T	.	.	.	0.69743	0.33655	T	.	.	.	.	.	.	.	.	-6.206	0.47972	T	.	.	0.161	0.35519	B	.;.	.;.	1.213019	0.16064	12.29	0.62062331923232983	0.06867	0.00721	0.03037	N	AEFBCI	0.018716	0.00589	N	.	.	.	.	.	.	7.30078675238498E-5	0.04552	0.109238	0.02860	1	0.063085	0.00849	2	0.155693	0.03940	1	0.195052	0.04227	1	.	.	0.566	-0.824	0.10266	0.108000	0.15232	-3.220000	0.02960	0.312000	0.19173	0.030000	0.20431	0.000000	0.08366	0.016000	0.10718	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.483089	0.444444	0.491848	0.487395	0.375000	0.500000	0.478873	0.492000	0.5	33316.6	523	chr1	16564149	.	C	T	33316.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.191;DP=3774;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=53.96;MQRankSum=6.79;QD=9;ReadPosRankSum=0.001;SOR=0.685	GT:AD:DP:GQ:PL	0/1:304,174:478:99:4144,0,9591	0	0	6	0
chr1	16577387	16577387	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	356	799	367	0	0	367	0.186768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0434	.	0.2397	0.1662	0.2034	0.4259	0.2658	0.2330	0.2715	0.2199	0.0002523	39	154602	rs672812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.20811	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.36779	.	.	.	.	.	.	.	0.0049095154	0.00105	T	.	.	.	.	.	.	.	.	.	0.02503941752049605	0.02454	.	.	0.530892848969	0.43161	T	.	.	.	-0.607731	0.00131	T	-1.11074	0.00022	T	.	.	.	0.820118	0.47860	T	.	.	.	.	.	.	.	.	-10.2	0.75100	D	.	.	0.175	0.38263	B	.;.	.;.	-0.632514	0.01485	0.092	0.32524367853212488	0.01889	0.00033	0.00296	N	AEFI	0.015988	0.00334	N	.	.	.	.	.	.	7.48439775225963E-5	0.04552	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.192000	0.09585	-8.658000	0.00933	-0.551000	0.04898	0.005000	0.17040	0.000000	0.08366	0.005000	0.06747	.	.	.	444	0.79803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.224339	0.196970	0.248641	0.200820	0.150000	0.232759	0.243902	0.206107	0.25	2153.18	221	chr1	16577387	.	T	C	2153.18	.	AC=3;AF=0.25;AN=12;BaseQRankSum=4.21;DP=1295;ExcessHet=1.383;FS=0;MLEAC=3;MLEAF=0.25;MQ=40.47;MQRankSum=0.736;QD=3.18;ReadPosRankSum=-0.328;SOR=0.775	GT:AD:DP:GQ:PL	0/1:208,26:234:91:91,0,5888	3	0	3	0
chr1	16579293	16579293	A	G	exonic	NBPF1	.	unknown	UNKNOWN	.	529	584	394	15	0	424	0.266332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4770	0.4924	0.4777	0.4566	0.4691	0.4789	0.4718	0.4739	0.0008837	23	26028	rs4127114	2.64e-05	4.277e-05	2.622e-05	2.658e-05	0.0002	1.812e-05	1.531e-05	0.0001	7.808e-05	0.0002	0	4.461e-05	0.0002	0	0	1.524e-05	2.313e-05	0	0.0002	0.0007	0.0002	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0.0003	0	7.295e-05	0	0.0002	0	0	0.0001	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.201754	0.190909	0.213499	0.135000	0.071429	0.254386	0.230469	0.197479	0.3333	1202.22	52	chr1	16579293	.	A	G	1202.22	.	AC=4;AF=0.333;AN=12;BaseQRankSum=3.45;DP=312;ExcessHet=3.1439;FS=110.908;MLEAC=4;MLEAF=0.333;MQ=36.11;MQRankSum=1.78;QD=8.29;ReadPosRankSum=-0.469;SOR=7.276	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,6:21:99:0|1:16579293_A_G:207,0,586:16579293	2	0	4	0
chr1	16579294	16579294	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	528	581	397	16	0	429	0.269642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4727	0.4891	0.4739	0.4729	0.4642	0.4729	0.4624	0.4674	0.0008837	23	26028	rs4127115	2.497e-05	6.823e-05	2.58e-05	2.42e-05	0.0003	1.689e-05	1.419e-05	0.0001	0.0001	0.0002	0	8.871e-05	0.0003	0	0	8.967e-06	2.286e-05	0	0.0002	0.0010	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0003	0	0.0001	0	0.0004	0.0002	0	0.0001	0	0.0002	.	.	.	0.626	0.11263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00407	.	.	.	.	.	.	.	0.0016256273	0.00019	T	.	.	.	.	.	.	.	.	.	0.015250635719149447	0.01481	.	.	0.530770659447	0.43143	T	.	.	.	-0.622413	0.00106	T	-1.13183	0.00013	T	.	.	.	0.49745	0.15470	T	.	.	.	.	.	.	.	.	-6.053	0.46720	T	.	.	0.064	0.01738	B	.;.	.;.	-0.476506	0.01943	0.166	0.24072861881687246	0.01047	0.00011	0.00159	N	AEFI	0.015935	0.00328	N	.	.	.	.	.	.	6.49849957978273E-4	0.07527	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.898000	0.04213	-20.000000	0.00162	-1.466000	0.01076	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	445	0.79730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.180503	0.190909	0.186464	0.120000	0.071429	0.254386	0.206349	0.176471	0.3333	1200.96	52	chr1	16579294	.	T	C	1200.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-4.25;DP=313;ExcessHet=3.1439;FS=110.908;MLEAC=4;MLEAF=0.333;MQ=36.11;MQRankSum=1.78;QD=8.28;ReadPosRankSum=-0.363;SOR=7.276	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,6:21:99:0|1:16579293_A_G:207,0,586:16579293	2	0	4	0
chr1	16579305	16579305	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	547	597	363	15	0	393	0.247637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4396	0.4635	0.4334	0.4429	0.4244	0.4403	0.4359	0.4340	0.0011142	29	26028	rs10907245	0.0016	0.0023	0.0015	0.0017	0.0061	0.0015	0.0015	0.0053	0.0050	0.0061	0.0009	0.0028	0.0005	0.0002	0.0027	0.0016	0.0013	0.0019	0.0040	0.0094	0.0041	0.0039	0.0113	0.0037	0.0036	0.0105	0.0101	0.0113	0	0.0013	0.0026	0.0004	9.697e-05	0	0.0016	0.0049	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.062183	0.039216	0.051247	0.070000	0.000000	0.098214	0.070866	0.060345	0.3333	515.95	52	chr1	16579305	.	G	A	515.95	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.93;DP=292;ExcessHet=3.1439;FS=79.332;MLEAC=4;MLEAF=0.333;MQ=35.81;MQRankSum=0.073;QD=3.94;ReadPosRankSum=0.406;SOR=6.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,2:20:32:0|1:16579305_G_A:32,0,710:16579305	2	0	4	0
chr1	16579308	16579308	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	536	678	298	10	0	318	0.189964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4169	0.4635	0.4098	0.4442	0.3977	0.4141	0.4226	0.4033	0.0009605	25	26028	rs10796417	2.988e-06	0.0001	2.05e-06	3.875e-06	1.313e-05	8e-07	2.2e-07	.	.	0	0	4.366e-05	0	0	0	1.416e-06	0	1.313e-05	4.685e-05	0.0005	7.844e-05	1.371e-05	7.453e-05	2.144e-05	1.549e-05	2.876e-05	1.88e-05	0	0	6.652e-05	0.0003	0	0	0	7.453e-05	0	0	.	.	.	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	0.0018868446	0.00026	T	.	.	.	.	.	.	.	.	.	0.03536828552245914	0.03483	.	.	0.579951882362	0.50079	T	.	.	.	-0.382433	0.03007	T	-0.787115	0.02245	T	.	.	.	0.920308	0.71149	D	.	.	.	.	.	.	.	.	-9.586	0.71394	D	.	.	0.175	0.38372	B	.;.	.;.	1.521589	0.19533	14.31	0.3543343570932736	0.02223	0.00520	0.02423	N	AEFI	0.030698	0.03141	N	.	.	.	.	.	.	6.38433801032419E-4	0.07505	0.183328	0.03972	0	0.096583	0.02683	0	0.083675	0.02720	0	0.185264	0.04187	1	.	.	.	.	.	0.649000	0.24529	-0.171000	0.11226	0.423000	0.20817	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	.	.	.	445	0.79730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.063613	0.029412	0.062500	0.055000	0.000000	0.098214	0.070866	0.068376	0.3333	385.95	52	chr1	16579308	.	G	C	385.95	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.18;DP=294;ExcessHet=3.1439;FS=66.33;MLEAC=4;MLEAF=0.333;MQ=35.87;MQRankSum=0.073;QD=2.9;ReadPosRankSum=0.078;SOR=5.89	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,2:20:32:0|1:16579305_G_A:32,0,710:16579305	2	0	4	0
chr1	16585589	16585589	A	G	exonic	NBPF1	.	unknown	UNKNOWN	.	444	979	99	0	0	99	0.0481283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0239617	0.2537	0.3542	0.2037	0.3206	0.2384	0.2507	0.2699	0.2182	0.0049562	129	26028	rs545990928	0.0003	0.0030	0.0004	0.0003	0.0006	0.0003	0.0003	0.0004	0.0004	0.0006	0	0.0002	0.0001	0	0.0003	0.0004	0.0003	3.641e-05	1.99e-05	0.0006	1.297e-05	2.716e-05	0.0002	5.29e-06	2.47e-06	8.1e-06	3.03e-06	4.886e-05	0	0	0	0.0002	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	0.016304	0.000000	0.022039	0.008772	0.000000	0.008772	0.015267	0.025000	0.1667	121.06	130	chr1	16585589	.	A	G	121.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=4.14;DP=513;ExcessHet=0.4139;FS=2.82;MLEAC=2;MLEAF=0.167;MQ=36.19;MQRankSum=-1.748;QD=0.64;ReadPosRankSum=0.14;SOR=0.332	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,6:59:92:0|1:16585589_A_G:92,0,2194:16585589	4	0	2	0
chr1	16585590	16585590	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	442	981	99	0	0	99	0.0480349	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0239617	0.2530	0.3520	0.2026	0.3183	0.2384	0.2504	0.2685	0.2177	0.0049562	129	26028	rs201157551	0.0004	0.0031	0.0004	0.0003	0.0006	0.0003	0.0003	0.0004	0.0004	0.0006	0	0.0002	0.0001	0	0.0003	0.0004	0.0004	3.636e-05	3.308e-05	0.0006	3.883e-05	2.707e-05	0.0002	1.267e-05	8.03e-06	8.06e-06	3.01e-06	4.862e-05	0	6.573e-05	0	0.0002	0	0	1.481e-05	0	0	.	.	.	0.964	0.02582	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00372	.	.	.	.	.	.	.	0.0019111931	0.00026	T	.	.	.	.	.	.	.	.	.	0.014674221529618755	0.01424	.	.	0.494962483644	0.38127	T	.	.	.	-0.615897	0.00117	T	-1.12247	0.00017	T	.	.	.	0.877512	0.59164	D	.	.	.	.	.	.	.	.	-6.447	0.49876	T	.	.	0.057	0.01328	B	.;.	.;.	-0.545511	0.01726	0.128	0.38162018612620946	0.02558	0.00009	0.00143	N	AEFI	0.015283	0.00284	N	.	.	.	.	.	.	1.12467906276832E-4	0.05269	0.163922	0.03765	0	0.096583	0.02683	0	0.175069	0.04249	0	0.24341	0.04801	0	.	.	.	.	.	-1.085000	0.03500	-20.000000	0.00162	-0.421000	0.05231	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	450	0.79359	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013253	0.000000	0.013736	0.008772	0.000000	0.008772	0.015267	0.020833	0.1667	121.06	130	chr1	16585590	.	T	C	121.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.99;DP=512;ExcessHet=0.4139;FS=2.82;MLEAC=2;MLEAF=0.167;MQ=36.17;MQRankSum=-1.748;QD=0.64;ReadPosRankSum=0.583;SOR=0.332	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,6:59:92:0|1:16585589_A_G:92,0,2194:16585589	4	0	2	0
chr1	16759590	16759590	-	C	exonic	MST1L	.	frameshift insertion	MST1L:NM_001271733:exon7:c.811dupG:p.A271Gfs*26	.	687	520	144	171	0	486	0.31848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0027	0.0007	0.0003	0	0.0010	0	0.0007	0.0097587	254	26028	rs200532237	0.0004	0.0070	0.0004	0.0004	0.0030	0.0003	0.0003	0.0023	0.0021	0.0030	0.0007	0.0005	0.0006	9.298e-05	0.0004	0.0002	0.0007	0.0008	0.0020	0.0100	0.0019	0.0021	0.0059	0.0016	0.0015	0.0045	0.0039	0.0059	0.0022	0.0010	0.0037	0.0009	0.0016	0	0.0008	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	5012.6	87	chr1	16759590	.	G	GC	5012.6	.	AC=8;AF=0.667;AN=12;BaseQRankSum=4.48;DP=512;ExcessHet=3.1439;FS=24.644;MLEAC=8;MLEAF=0.667;MQ=44.92;MQRankSum=-1.979;QD=10.92;ReadPosRankSum=-3.688;SOR=1.288	GT:AD:DP:GQ:PL	0/1:110,30:140:99:611,0,3504	0	2	4	0
chr1	19177568	19177568	T	C	exonic	UBR4	.	nonsynonymous SNV	UBR4:NM_020765:exon19:c.A2530G:p.M844V	.	419	1091	12	0	0	12	0.00546946	.	.	.	696334	not_provided|UBR4-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.037	.	0.0059	0.00359425	0.0053	0.0026	0.0023	0	0.0038	0.0073	0	0.0047	0.0055627	860	154602	rs35444108	0.0079	0.0079	0.0080	0.0078	0.0091	0.0078	0.0077	0.0089	0.0089	0.0015	0.0027	0.0102	2.519e-05	0.0036	0.0059	0.0091	0.0066	0.0046	0.0056	0.0056	0.0060	0.0051	0.0089	0.0053	0.0051	0.0083	0.0081	0.0020	0.0307	0.0028	0.0069	0	0.0033	0.0034	0.0089	0.0033	0.0042	0.677	0.04469	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	0.429072	0.12771	N	0.778290	0.998825	0.21877	N	-0.345	0.03330	N	0.96	0.42888	T	-0.64	0.18670	N	0.271	0.30687	-0.9545	0.40185	T	0.022	0.09559	T	10	0.0035018027	0.00063	T	.	.	.	0.037	0.09474	.	.	0.043077524339	0.03247	0.10743749334342621	0.10672	0.149145437776	0.16817	0.322998344898	0.13875	T	0.09611	0.39759	T	-0.615563	0.00117	T	-0.649028	0.09022	T	0.00175238229398778	0.00018	T	0.648035	0.25918	T	0.02501936	0.01394	0.038397945	0.03700	0.02501936	0.01394	0.038397945	0.03700	-2.242	0.04249	T	.	.	0.063	0.01470	B	.	.	1.244399	0.16405	12.52	0.62420298463653634	0.06958	0.67405	0.33421	D	AEFBCI	0.084828	0.17193	N	-0.929241402391599	0.10163	0.4843388	-0.799595066443798	0.14505	0.7582325	0.0159463474123684	0.12774	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.73	-4.19	0.03573	0.428000	0.21114	-0.563000	0.08467	0.665000	0.62972	0.996000	0.39380	0.058000	0.21979	0.966000	0.53164	0.093:0.2063:0.3388:0.362	2.985	0.05601	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.005051	0.004076	0.002924	0.000000	0.000000	0.003049	0.003788	0.08333	772.83	43	chr1	19177568	.	T	C	772.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2;DP=250;ExcessHet=0;FS=4.699;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=2.23;SOR=1.253	GT:AD:DP:GQ:PL	0/1:41,29:70:99:783,0,1075	5	0	1	0
chr1	23092707	23092707	C	G	exonic	LUZP1	.	nonsynonymous SNV	LUZP1:NM_001142546:exon3:c.G1555C:p.V519L,LUZP1:NM_033631:exon4:c.G1555C:p.V519L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00870871267601	.	0.000199681	1.647e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs541053379	6.84e-06	6.84e-06	5.445e-06	8.25e-06	0.0001	3.46e-06	2.52e-06	6.246e-05	4.757e-05	0	0	0	0	0	0	0	0	0.0001	6.569e-06	6.562e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.019	0.50132	D	0.524	0.21678	T	0.065	0.23521	B	0.052	0.25551	B	0.076783	0.21142	N	0.336984	1	0.08975	N	2.32	0.66415	M	2.72	0.14284	T	-0.81	0.22294	N	0.139	0.13769	-0.9901	0.32576	T	0.035	0.15074	T	10	0.041465253	0.02805	T	0.008709	0.23001	T	0.054	0.15330	0.136	0.04008	0.151104730317	0.14643	0.09901928751807483	0.09832	0.172726620004	0.19448	0.340872913599	0.16569	T	0.082962	0.36947	T	-0.388632	0.02745	T	-0.593366	0.13376	T	0.0672046282537199	0.08253	T	0.737426	0.35417	T	0.0747616	0.16801	0.070021324	0.14827	0.0747616	0.16800	0.070021324	0.14827	-3.162	0.12022	T	.	.	0.086	0.17189	B	.;.;.	.;.;.	-0.492904	0.01890	0.156	0.94529430278913273	0.25027	0.21363	0.21375	N	AEFDBI	0.048633	0.08319	N	-0.783010907610374	0.13752	0.6798073	-0.847639827312331	0.13344	0.6917359	0.997921215051183	0.36199	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.58	0.514	0.16206	0.391000	0.20511	-1.932000	0.04475	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.192000	0.21661	0.0:0.6804:0.0:0.3196	10.038	0.41314	831	0.39019	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1782.83	102	chr1	23092707	.	C	G	1782.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.517;DP=526;ExcessHet=0;FS=0.58;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=-1.387;SOR=0.76	GT:AD:DP:GQ:PL	0/1:90,72:162:99:1793,0,2267	5	0	1	0
chr1	23868280	23868280	C	G	exonic	FUCA1	.	nonsynonymous SNV	FUCA1:NM_000147:exon1:c.G7C:p.A3P	Fucosidosis, Autosomal recessive	5	1467	47	3	0	53	0.0177436	.	.	YES	280123	not_provided|FUCA1-related_disorder|Fucosidosis	MedGen:C3661900|.|MONDO:MONDO:0009254,MedGen:C0016788,OMIM:230000,Orphanet:349	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.067	.	0.0021	0.0133786	0.0161	0	0.0971	0	0	0.0087	0.0467	0.0181	0.0068498	1059	154602	rs61996282	0.0096	0.0096	0.0096	0.0097	0.0518	0.0095	0.0095	0.0498	0.0490	0.0019	0.0518	0.0013	0.0001	0.0015	0.0106	0.0088	0.0099	0.0157	0.0094	0.0094	0.0088	0.0100	0.0422	0.0090	0.0089	0.0395	0.0385	0.0023	0	0.0422	0.0012	0	0.0013	0.0068	0.0084	0.0118	0.0164	0.174	0.22486	T	0.084	0.41239	T	0.0	0.02946	B	0.001	0.04355	B	0.000389	0.00589	N	4.458410	1	0.08975	N	0.205	0.09354	N	0.63	0.53088	T	-0.34	0.12661	N	0.174	0.18649	-1.0848	0.06444	T	0.021	0.08639	T	10	0.0022031665	0.00032	T	.	.	.	0.067	0.19503	.	.	.	.	0.5235821115694509	0.52282	0.470944129722	0.46361	0.358692973852	0.19194	T	0.072016	0.34349	T	-0.58831	0.00172	T	-0.580599	0.14491	T	0.0198403468811232	0.00686	T	0.251175	0.03802	T	0.085943185	0.19958	0.11733206	0.28325	0.06121017	0.12649	0.10698687	0.25747	-3.762	0.20238	T	.	.	0.080	0.07985	B	.	.	0.094463	0.04974	1.537	0.98163784923902153	0.38797	0.03710	0.08995	N	ALL	0.164038	0.29039	N	-1.26523520428306	0.04101	0.1844868	-1.30639370058685	0.04347	0.2048423	1.0	0.98316	0.437478	0.07067	0	0.218748	0.04544	0	0.503968	0.08637	0	0.603991	0.37454	0	.	.	4.9	-3.58	0.04303	-2.153000	0.01373	-6.841000	0.01293	-0.199000	0.08999	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2648:0.318:0.1932:0.2239	0.578	0.00661	639	0.64210	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08333	862.83	37	chr1	23868280	.	C	G	862.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.612;DP=236;ExcessHet=0;FS=3.52;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-0.118;SOR=0.33	GT:AD:DP:GQ:PL	0/1:31,34:65:99:873,0,881	5	0	1	0
chr1	24364208	24364208	G	A	exonic	GRHL3	.	nonsynonymous SNV	GRHL3:NM_198174:exon16:c.G1718A:p.R573H	Van der Woude syndrome 2, Autosomal dominant	430	1089	3	0	0	3	0.00137552	.	.	.	1873501	GRHL3-related_disorder|not_provided|Van_der_Woude_syndrome_2	.|MedGen:C3661900|MONDO:MONDO:0011712,MedGen:C1847604,OMIM:606713,Orphanet:888	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.085	0.000533226456754	.	0.000399361	0.0009	0	0	0	0.0012	0.0017	0	0.0004	0.000194	30	154602	rs151326764	0.0008	0.0008	0.0008	0.0008	0.0009	0.0008	0.0008	0.0008	0.0008	0.0001	0.0001	0.0024	0	0.0012	0.0004	0.0009	0.0006	7.789e-05	0.0010	0.0010	0.0008	0.0011	0.0016	0.0008	0.0008	0.0013	0.0013	0.0001	0	0.0001	0.0037	0.0002	0.0015	0	0.0016	0	0	0.149	0.24758	T	0.047	0.48855	D	.	.	.	.	.	.	.	.	.	.	1	0.18198	N	0	0.06538	N	2.93	0.09822	T	1.27	0.00985	N	0.033	0.00882	-0.9700	0.37200	T	0.011	0.03949	T	7	0.005378872	0.00118	T	5.33E-4	0.00185	T	0.085	0.24743	.	.	0.0675242888579	0.06100	0.24853847322689188	0.24767	0.450892133838	0.44853	0.197999298573	0.00401	T	0.137851	0.47102	T	-0.691543	0.00041	T	-0.773394	0.02658	T	0.0142523127382405	0.00282	T	0.439856	0.12136	T	0.01872033	0.00394	0.027419476	0.00894	0.016852664	0.00226	0.026251813	0.00704	-3.227	0.12813	T	0.1589566774786185	0.19296	0.095	0.14706	B	.	.	0.218212	0.06011	2.450	0.72259784511369773	0.09911	0.01173	0.04215	N	AEFGBHCI	0.014219	0.00217	N	-1.35326298828743	0.03091	0.1375438	-1.56374264312022	0.01882	0.08584477	0.999999984014528	0.74766	0.525926	0.21836	0	0.59043	0.45803	0	0.615948	0.41167	0	0.613276	0.41899	0	.	.	3.52	-7.03	0.01428	-1.457000	0.02481	-0.172000	0.11217	-0.783000	0.03311	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2923:0.2867:0.2078:0.2131	0.207	0.00141	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002545	0.005435	0.000000	0.005882	0.000000	0.000000	0.000000	0.000000	0.08333	946.83	34	chr1	24364208	.	G	A	946.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.097;DP=252;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=0.626;SOR=0.702	GT:AD:DP:GQ:PL	0/1:31,40:71:99:957,0,736	5	0	1	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	333.15	37	chr1	26282357	.	CTGGGGCCGGG	*	333.15	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.744;DP=163;ExcessHet=6.1542;FS=1.486;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.27;ReadPosRankSum=1.63;SOR=0.854	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,8:27:99:0|1:26282278_C_T:233,0,753:26282278	1	1	4	0
chr1	26282386	26282392	GCCGGGA	0	exonic	UBXN11	.	.	.	.	476	531	212	27	276	542	0.200301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	409.4	35	chr1	26282386	.	GCCGGGA	*	409.4	.	AC=4;AF=0.4;AN=10;DP=180;ExcessHet=0.7136;FS=7.449;MLEAC=4;MLEAF=0.4;MQ=60;QD=3.56;SOR=0.261	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,19:36:99:0|1:26282278_C_T:742,0,590:26282278	1	0	4	1
chr1	26900006	26900006	G	A	exonic	GPATCH3	.	nonsynonymous SNV	GPATCH3:NM_022078:exon1:c.C437T:p.P146L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00424407027977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.42e-06	3.42e-06	0	6.876e-06	4.638e-05	1e-06	7.3e-07	1.583e-05	9.3e-06	0	0	0	0	0	0	8.993e-07	0	4.638e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.231	0.25061	T	0.704	0.41950	P	0.119	0.32162	B	0.000002	0.62929	D	0.061993	0.999969	0.52935	D	2.64	0.77224	M	1.58	0.29085	T	-1.12	0.28906	N	0.442	0.48042	-1.0893	0.05650	T	0.059	0.24649	T	10	0.2441675	0.41643	T	0.004244	0.10247	T	0.057	0.16321	0.42	0.46200	0.232513804876	0.22884	0.5408618954457344	0.54011	0.39640834386	0.40755	0.508153021336	0.39964	T	0.057406	0.30556	T	-0.0607628	0.42788	T	-0.325058	0.42016	T	0.964439928531647	0.66957	D	0.841716	0.51747	T	0.14273794	0.32836	0.24852431	0.50405	0.14273794	0.32835	0.24852431	0.50404	-2.082	0.03507	T	.	.	0.248	0.48303	B	.	.	3.861536	0.56000	23.7	0.99522568932322042	0.69346	0.79631	0.39497	D	AEFDGBCIJ	0.219080	0.34401	N	0.210465220729326	0.51706	3.349753	0.294346509029024	0.55207	3.684112	0.999999998848412	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.23	5.23	0.72570	3.791000	0.55173	11.595000	0.93433	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.186:0.814:0.0	12.144	0.53318	516	0.74704	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1819.83	34	chr1	26900006	.	G	A	1819.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.483;DP=293;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=-0.749;SOR=0.676	GT:AD:DP:GQ:PL	0/1:54,70:124:99:1830,0,1407	5	0	1	0
chr1	30876701	30876701	T	C	exonic	SDC3	.	nonsynonymous SNV	SDC3:NM_014654:exon3:c.A721G:p.T241A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0099508389969	7.7e-05	0.000199681	3.674e-05	0	0	0	0	6.478e-05	0	0	3.23e-05	5	154602	rs369847197	8.49e-05	8.551e-05	7.954e-05	9.033e-05	0.0001	7.268e-05	6.811e-05	9.527e-05	8.928e-05	0	0	0	0	0	0	0.0001	0	0	3.284e-05	3.281e-05	5.142e-05	1.343e-05	6.538e-05	1.26e-05	7.98e-06	1.973e-05	1.125e-05	0	0	6.538e-05	0	0	0	0	5.882e-05	0	0	0.01	0.56456	D	0.29	0.23433	T	0.015	0.19556	B	0.021	0.21741	B	0.003152	0.35359	N	0.196714	0.997915	0.44315	D	1.1	0.28011	L	1.79	0.25509	T	-1.57	0.37955	N	0.199	0.35408	-1.0777	0.07801	T	0.038	0.16462	T	10	0.06300941	0.08144	T	0.009951	0.25901	T	0.062	0.17934	.	.	0.082315109003	0.07666	0.5676529610078943	0.56693	0.0661567587918	0.07378	0.686908781528	0.65261	T	0.453876	0.79365	T	-0.322372	0.06705	T	-0.506533	0.21672	T	0.0667408080686408	0.08186	T	0.70293	0.31283	T	0.07239603	0.16100	0.084390126	0.19409	0.07239603	0.16100	0.084390126	0.19409	-4.753	0.34039	T	.	.	0.122	0.25462	B	.;.	.;.	3.707557	0.52916	23.3	0.95933976373763141	0.28222	0.98362	0.82008	D	AEFBI	0.653214	0.62633	D	-0.384331294297786	0.26026	1.417342	-0.248913441535965	0.29808	1.673119	0.984762775909498	0.30771	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.99	3.86	0.43689	2.995000	0.49129	4.993000	0.46541	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.646000	0.32584	0.0:0.0888:0.0:0.9112	8.538	0.32536	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	256.83	36	chr1	30876701	.	T	C	256.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.079;DP=196;ExcessHet=0;FS=1.423;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.78;ReadPosRankSum=1.13;SOR=0.731	GT:AD:DP:GQ:PL	0/1:22,11:33:99:267,0,648	5	0	1	0
chr1	38022733	38022733	G	A	exonic	UTP11	.	nonsynonymous SNV	UTP11:NM_016037:exon7:c.G602A:p.C201Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.00391737423566	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.876	0.02568	T	0.132	0.34477	T	0.005	0.12996	B	0.002	0.06944	B	0.023434	0.26444	N	0.457210	0.632755	0.81001	D	0	0.06538	N	.	.	.	0.74	0.02038	N	0.424	0.46368	-1.0583	0.12184	T	0.072	0.29163	T	9	0.21849051	0.38492	T	0.003917	0.09242	T	0.097	0.27909	0.486	0.56939	0.639293935697	0.63632	0.4783418396554179	0.47754	0.400445151667	0.41042	0.377059042454	0.21839	T	0.041518	0.25883	T	-0.107735	0.35144	T	-0.392531	0.34256	T	0.231668532781598	0.22031	T	0.862314	0.55722	D	0.06432953	0.13637	0.09225612	0.21731	0.06432953	0.13637	0.09225612	0.21731	-0.052	0.00368	T	.	.	0.101	0.17530	B	.	.	1.764089	0.22436	15.62	0.49453151163170644	0.04213	0.87661	0.47275	D	AEFBCI	0.707431	0.66217	D	-0.204249634213397	0.32960	1.864569	0.0171652374562305	0.40511	2.418928	0.182551291527428	0.17892	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.06	3.99	0.45527	3.192000	0.50690	4.851000	0.45376	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1047:0.0:0.48:0.4153	6.040	0.18956	405	0.82444	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	924.83	34	chr1	38022733	.	G	A	924.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.298;DP=238;ExcessHet=0;FS=5;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-1.023;SOR=0.942	GT:AD:DP:GQ:PL	0/1:30,34:64:99:935,0,769	5	0	1	0
chr1	38046636	38046636	-	GCC	exonic	POU3F1	.	nonframeshift insertion	POU3F1:NM_002699:exon1:c.107_108insGGC:p.A37_E38insA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0	0	0	0	0.0010	0	0.0009	0.0001537	4	26028	rs767888115	0.0013	0.0012	0.0013	0.0013	0.0014	0.0013	0.0012	0.0014	0.0013	0.0008	6.173e-05	0.0005	0.0002	0.0013	0.0009	0.0014	0.0010	0.0008	0.0011	0.0012	0.0013	0.0010	0.0023	0.0010	0.0009	0.0014	0.0013	0.0005	0.0011	0.0006	0.0003	0.0008	0.0012	0	0.0016	0.0005	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	367.01	32	chr1	38046636	.	G	GGCC	367.01	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.32;DP=163;ExcessHet=0.4139;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=0.404;SOR=0.693	GT:AD:DP:GQ:PL	0/1:6,8:14:99:315,0,228	5	0	1	0
chr1	39411394	39411394	G	A	exonic	KIAA0754	.	nonsynonymous SNV	KIAA0754:NM_015038:exon1:c.G1129A:p.D377N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.00441726782111	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1264005146	1.437e-05	1.436e-05	9.529e-06	1.925e-05	3.478e-05	9.23e-06	7.84e-06	9.31e-06	7.61e-06	2.987e-05	0	0	0	0	0	1.529e-05	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.29740	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	0.027	0.00571	-1.0189	0.24074	T	0.039	0.16720	T	9	0.07123226	0.10471	T	0.004417	0.10812	T	0.101	0.28911	.	.	0.123314135267	0.11883	.	.	0.0485289937825	0.05301	0.254894733429	0.04301	T	0.04681	0.27536	T	-0.36287	0.03970	T	-0.759014	0.03148	T	0.334795713424683	0.26417	T	0.470053	0.13899	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.16843	B	.;.	.;.	0.859556	0.12321	8.859	0.94182131412593095	0.24402	0.12005	0.17000	N	AEFDGBCI	0.058134	0.10885	N	-0.858513544910281	0.11840	0.5736914	-0.848022501064318	0.13335	0.6912066	0.999998413108543	0.74766	0.627647	0.40530	0	0.289287	0.05216	2	0.672317	0.60874	0	0.56214	0.19341	0	.	.	4.45	-0.0608	0.13119	-0.290000	0.08390	-0.212000	0.10844	0.662000	0.56354	0.000000	0.06391	0.000000	0.08366	0.994000	0.71098	0.3625:0.1443:0.4932:0.0	5.006	0.13630	814	0.42100	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1261.83	35	chr1	39411394	.	G	A	1261.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.01;DP=313;ExcessHet=0;FS=5.467;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=-0.343;SOR=0.859	GT:AD:DP:GQ:PL	0/1:72,55:127:99:1272,0,1888	5	0	1	0
chr1	39429863	39429863	G	A	exonic	MACF1	.	nonsynonymous SNV	MACF1:NM_012090:exon59:c.G10739A:p.G3580D	.	425	1091	6	0	0	6	0.00274223	.	.	.	1924772	not_provided|Lissencephaly_9_with_complex_brainstem_malformation|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0032677,MedGen:C5193029,OMIM:618325,Orphanet:572013|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.468	0.00950537068572	0.0008	.	0.0005	0.0002	0.0002	0	0	0.0008	0	6.057e-05	0.0004463	69	154602	rs148290248	0.0005	0.0005	0.0005	0.0005	0.0009	0.0004	0.0004	0.0005	0.0005	0.0002	0.0002	0	0	1.872e-05	0.0009	0.0006	0.0003	5.797e-05	0.0004	0.0004	0.0004	0.0003	0.0006	0.0003	0.0003	0.0004	0.0004	0.0001	0	0.0003	0.0003	0	0	0	0.0006	0.0014	0.0002	0.176	0.38633	T	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000018	0.62929	D	0.000000	1	0.81001	D	.	.	.	1.48	0.31731	T	-6.05	0.89796	D	0.816	0.83167	-0.3920	0.72279	T	0.410	0.75860	T	10	0.42174366	0.56909	T	0.009505	0.24878	T	0.468	0.76289	.	.	0.514368863035	0.51079	0.424295431875202	0.42346	.	.	0.866641044617	0.92084	D	0.166858	0.78294	T	-0.0129962	0.49845	T	0.126772	0.78680	D	0.217097858900162	0.21318	T	0.963804	0.86607	D	0.51165366	0.67776	0.798651	0.88185	0.51165366	0.67777	0.798651	0.88186	-8.979	0.67562	D	.	.	0.474	0.66816	A	.;.;.;.;.	.;.;.;.;.	3.435290	0.47760	22.5	0.99808644275896352	0.89264	0.99600	0.97861	D	AEFBI	0.913309	0.87511	D	0.622818785323024	0.74620	6.163702	0.708236319803082	0.83004	7.909461	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	6.04	6.04	0.98025	10.003000	0.99689	8.697000	0.78095	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	20.653	0.99601	804	0.43891	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.007576	0.08333	1095.83	37	chr1	39429863	.	G	A	1095.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.07;DP=265;ExcessHet=0;FS=3.036;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=-0.34;SOR=0.778	GT:AD:DP:GQ:PL	0/1:40,38:78:99:1106,0,1001	5	0	1	0
chr1	43171575	43171575	G	C	exonic	EBNA1BP2	.	nonsynonymous SNV	EBNA1BP2:NM_006824:exon3:c.C227G:p.P76R,EBNA1BP2:NM_001159936:exon4:c.C392G:p.P131R	.	434	1070	18	0	0	18	0.00834106	.	.	.	696750	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.331	.	0.0055	0.00179712	0.0063	0.0021	0.0016	0	0.0191	0.0079	0.0110	0.0041	0.0060866	941	154602	rs11559316	0.0076	0.0076	0.0077	0.0074	0.0082	0.0074	0.0074	0.0081	0.0080	0.0011	0.0014	0.0016	2.519e-05	0.0181	0.0064	0.0082	0.0071	0.0038	0.0073	0.0073	0.0066	0.0080	0.0107	0.0070	0.0068	0.0101	0.0098	0.0017	0	0.0018	0.0017	0	0.0245	0.0068	0.0107	0.0019	0.0033	0.002	0.78490	D	0.005	0.79402	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.093751	0.999963	0.52935	D	3.155	0.88459	M	0.65	0.52642	T	-6.98	0.93582	D	0.478	0.56748	-0.6060	0.64569	T	0.208	0.56690	T	10	0.009445906	0.00213	T	.	.	.	0.331	0.65325	.	.	0.758294732748	0.75610	0.3343831222421954	0.33351	0.628309076894	0.56911	0.546327590942	0.45338	T	0.06041	0.41268	T	-0.342271	0.05232	T	-0.252101	0.49609	T	0.0980403580858223	0.12140	T	0.79692	0.44048	T	0.72705746	0.79558	0.67844325	0.81111	0.72705746	0.79559	0.67844325	0.81112	-5.318	0.40121	T	.	.	0.138	0.30076	B	.;.	.;.	4.684610	0.75006	26.3	0.99686465194438589	0.79641	0.85854	0.45035	D	AEFDGBCI	0.461788	0.51140	N	0.484012327401887	0.66155	4.913866	0.395182558167081	0.61268	4.32448	0.999999995486169	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.91	4.98	0.65679	3.906000	0.56053	8.533000	0.77464	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.034000	0.13613	0.0737:0.0:0.7779:0.1484	8.987	0.35161	443	0.79878	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.000000	0.002717	0.000000	0.000000	0.008621	0.021341	0.011364	0.08333	1733.83	35	chr1	43171575	.	G	C	1733.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.167;DP=322;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=0.11;SOR=0.747	GT:AD:DP:GQ:PL	0/1:57,71:128:99:1744,0,1249	5	0	1	0
chr1	46346991	46346991	G	A	exonic	NSUN4	.	nonsynonymous SNV	NSUN4:NM_001256127:exon3:c.G361A:p.G121S,NSUN4:NM_001256128:exon3:c.G361A:p.G121S,NSUN4:NM_199044:exon3:c.G508A:p.G170S	.	.	.	.	.	.	.	.	.	.	.	3359486	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.084	0.00516566083029	7.7e-05	.	9.887e-05	9.61e-05	0	0	0.0011	5.997e-05	0	0	8.41e-05	13	154602	rs375507367	0.0001	0.0001	9.665e-05	0.0001	0.0003	9.468e-05	8.95e-05	6.409e-05	5.91e-05	0	2.236e-05	0	0	0.0012	0.0003	7.734e-05	6.623e-05	1.159e-05	9.202e-05	9.195e-05	3.856e-05	0.0001	2.414e-05	5.53e-05	4.366e-05	.	.	2.414e-05	0	0	0	0	0.0012	0	0	0	0	0.228	0.23007	T	0.305	0.24621	T	0.069	0.23796	B	0.028	0.21332	B	0.000041	0.55875	D	0.186826	0.98151	0.39785	D	1.03	0.25572	L	2.91	0.10008	T	0.6	0.02808	N	0.132	0.12770	-1.0369	0.18264	T	0.020	0.08407	T	10	0.0359056	0.01861	T	0.005166	0.13125	T	0.084	0.24469	.	.	0.490282680104	0.48660	0.3088274561817389	0.30795	0.29056830254	0.31466	0.499171555042	0.38712	T	0.001166	0.00668	T	-0.351138	0.04655	T	-0.560634	0.16317	T	0.0343085306028162	0.02691	T	0.893911	0.64469	D	0.33309546	0.55722	0.1074887	0.25877	0.33309546	0.55722	0.1074887	0.25876	-6.032	0.46546	T	.	.	0.120	0.24867	B	.;.	.;.	3.813027	0.55007	23.6	0.99298052787756508	0.58505	0.92999	0.57071	D	AEFBI	0.303758	0.41165	N	-0.146975165578928	0.35362	2.030275	0.0393801553495189	0.41562	2.499	0.999979353155456	0.50053	0.722319	0.85440	0	0.698795	0.70079	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	6.17	5.26	0.73479	3.315000	0.51661	8.479000	0.77294	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.442000	0.27716	0.1518:0.0:0.8482:0.0	9.818	0.40033	95	0.96074	SAM-dependent methyltransferase RsmB/NOP2-type|SAM-dependent methyltransferase RsmB/NOP2-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	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	1351.83	38	chr1	46346991	.	G	A	1351.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.733;DP=275;ExcessHet=0;FS=2.826;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=-0.671;SOR=1.05	GT:AD:DP:GQ:PL	0/1:37,54:91:99:1362,0,799	5	0	1	0
chr1	47417213	47417213	A	G	exonic	FOXE3	.	nonsynonymous SNV	FOXE3:NM_012186:exon1:c.A898G:p.S300G	Anterior segment dysgenesis 2, multiple subtypes, Autosomal recessive;Cataract 34, multiple types	11	1478	31	2	0	35	0.0117018	.	.	.	270847	not_specified|not_provided|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Anterior_segment_dysgenesis|Congenital_primary_aphakia|Cardiovascular_phenotype	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|Human_Phenotype_Ontology:HP:0007696,Human_Phenotype_Ontology:HP:0007699,Human_Phenotype_Ontology:HP:0007700,Human_Phenotype_Ontology:HP:0008040,MONDO:MONDO:0019503,MedGen:C1862839,OMIM:PS107250,Orphanet:88632|MONDO:MONDO:0012456,MedGen:C1853230,OMIM:610256,Orphanet:83461|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.290	.	.	0.00159744	0.0056	0	0	0	.	0.0140	0	0.0046	0.0004463	69	154602	rs552420470	0.0031	0.0028	0.0031	0.0031	0.0075	0.0030	0.0030	0.0052	0.0044	0.0004	0.0010	0.0068	0	0.0162	0.0075	0.0027	0.0044	0.0023	0.0035	0.0035	0.0028	0.0042	0.0034	0.0032	0.0031	0.0030	0.0029	0.0009	0.0198	0.0009	0.0072	0	0.0174	0.0068	0.0034	0.0014	0.0031	0.792	0.03184	T	0.539	0.09795	T	0.0	0.02946	B	0.0	0.01387	B	0.295066	0.14698	N	0.476851	0.999999	0.08975	N	-0.55	0.02420	N	-3.35	0.94022	D	-0.04	0.07590	N	0.009	0.00081	-0.5843	0.65447	T	0.449	0.78413	T	10	0.002399385	0.00036	T	.	.	.	0.290	0.60924	.	.	0.278968121808	0.27521	0.25902939876241915	0.25816	.	.	0.85276901722	0.90032	D	0.047203	0.27653	T	-0.49657	0.00598	T	-0.485524	0.23862	T	0.00355428885476566	0.00038	T	0.349665	0.07767	T	0.0522095	0.09705	0.084667906	0.19493	0.06239897	0.13029	0.09056662	0.21243	-1.467	0.01698	T	.	.	0.063	0.01428	B	.	.	0.543012	0.09114	5.899	0.54533621611238681	0.05157	0.04776	0.10488	N	AEFDBHCI	0.022941	0.01212	N	-1.41013078079519	0.02549	0.1127034	-1.40882137805127	0.03163	0.1470107	0.99369782197003	0.33317	0.59774	0.34471	0	0.563428	0.19063	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	3.4	-2.55	0.05922	-0.911000	0.04159	0.151000	0.15292	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.915000	0.45038	0.3845:0.0:0.6155:0.0	11.549	0.49966	675	0.60470	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006151	0.000000	0.000000	0.000000	0.000000	0.000000	0.009709	0.025641	0.08333	252.83	35	chr1	47417213	.	A	G	252.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.881;DP=165;ExcessHet=0;FS=3.916;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=0.804;SOR=1.751	GT:AD:DP:GQ:PL	0/1:17,10:27:99:263,0,427	5	0	1	0
chr1	69994621	69994621	A	G	exonic	LRRC7	.	nonsynonymous SNV	LRRC7:NM_001350216:exon11:c.A995G:p.N332S,LRRC7:NM_001366838:exon11:c.A992G:p.N331S,LRRC7:NM_001370785:exon11:c.A992G:p.N331S,LRRC7:NM_001330635:exon12:c.A893G:p.N298S,LRRC7:NM_001366839:exon12:c.A893G:p.N298S,LRRC7:NM_001366841:exon12:c.A893G:p.N298S	.	450	1034	35	3	0	41	0.0194405	.	.	.	3886586	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.125	.	0.0087	0.00698882	0.0068	0.0152	0.0101	0	0.0009	0.0076	0.0144	0.0012	0.0067399	1042	154602	rs72676879	0.0053	0.0054	0.0053	0.0054	0.0790	0.0052	0.0052	0.0730	0.0706	0.0133	0.0112	0.0253	0	0.0010	0.0790	0.0044	0.0114	0.0013	0.0087	0.0087	0.0087	0.0086	0.0139	0.0083	0.0081	0.0130	0.0126	0.0139	0	0.0122	0.0199	0.0002	0.0005	0.1130	0.0058	0.0213	0.0004	0.073	0.36113	T	0.045	0.49390	D	0.367	0.34030	B	0.263	0.39594	B	0.000003	0.62929	D	0.100641	0.999829	0.81001	D	-0.31	0.03598	N	2.03	0.23884	T	-2.15	0.48687	N	0.396	0.43706	-1.0139	0.25688	T	0.021	0.08639	T	10	0.0067400336	0.00153	T	.	.	.	0.125	0.34456	.	.	0.559688537222	0.55629	0.5185816699323756	0.51781	2.17053411201	0.95497	0.640680670738	0.58661	T	0.028058	0.58333	T	-0.624144	0.00104	T	-0.657639	0.08426	T	0.0289290178431819	0.01827	T	0.936906	0.76326	D	0.15675013	0.35358	0.25773692	0.51495	0.15675013	0.35357	0.25773692	0.51494	-6.629	0.51274	T	.	.	0.065	0.01884	B	.;.	.;.	3.026350	0.40527	21.2	0.99803771616151216	0.88817	0.85774	0.44944	D	AEFBHCI	0.900326	0.84573	D	0.0587109992476847	0.44544	2.726515	0.226869211476675	0.51344	3.31772	0.999999973006373	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.662026	0.63922	0	.	.	5.4	5.4	0.77957	8.358000	0.89989	6.174000	0.54533	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.872000	0.41544	1.0:0.0:0.0:0.0	14.894	0.70271	913	0.21160	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.072077	0.158163	0.082880	0.099415	0.100000	0.068966	0.009146	0.007576	0.1667	2291.06	34	chr1	69994621	.	A	G	2291.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.64;DP=313;ExcessHet=0.4139;FS=2.728;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=1.62;SOR=0.492	GT:AD:DP:GQ:PL	0/1:31,47:78:99:1156,0,728	4	0	2	0
chr1	77929446	77929446	A	C	exonic	NEXN	.	nonsynonymous SNV	NEXN:NM_001172309:exon8:c.A803C:p.E268A,NEXN:NM_144573:exon9:c.A995C:p.E332A	Cardiomyopathy, dilated, 1CC, Autosomal dominant;Cardiomyopathy, hypertrophic, 20, Autosomal dominant	5	1463	52	2	0	56	0.0187793	.	.	.	57079	Premature_ventricular_contraction|Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1CC|Hypertrophic_cardiomyopathy_20|not_provided|not_specified|Cardiovascular_phenotype|Cardiomyopathy	Human_Phenotype_Ontology:HP:0006678,Human_Phenotype_Ontology:HP:0006682,MedGen:C0151636|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MONDO:MONDO:0013147,MedGen:C2751084,OMIM:613122,Orphanet:154|MONDO:MONDO:0013477,MedGen:C3151267,OMIM:613876|MedGen:C3661900|MedGen:CN169374|MedGen:CN230736|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.157	.	0.0020	0.00319489	0.0040	0.0013	0.0015	0.0002	0.0071	0.0028	0.0078	0.0125	0.0036222	560	154602	rs201763096	0.0034	0.0034	0.0031	0.0037	0.0129	0.0033	0.0033	0.0123	0.0120	0.0008	0.0016	0.0028	0.0002	0.0056	0.0083	0.0028	0.0036	0.0129	0.0029	0.0029	0.0026	0.0032	0.0128	0.0027	0.0026	0.0103	0.0094	0.0009	0	0.0027	0.0029	0	0.0069	0.0136	0.0031	0.0028	0.0128	0.027	0.49613	D	0.01	0.65728	D	0.0	0.02946	B	0.001	0.04355	B	0.114418	0.19276	N	0.422095	0.999971	0.54805	D	3.075	0.87202	M	-0.37	0.68892	T	-3.02	0.62630	D	0.224	0.26957	-0.4392	0.70757	T	0.303	0.67446	T	10	0.00764665	0.00174	T	.	.	.	0.157	0.40909	.	.	0.859195409393	0.85783	0.11596895215620386	0.11524	0.0493437229553	0.05403	0.471635967493	0.34905	T	0.248366	0.61815	T	-0.362971	0.03965	T	-0.283128	0.46483	T	0.0680656326731404	0.08377	T	0.815918	0.52185	T	0.14080186	0.32471	0.11652214	0.28130	0.15044011	0.34247	0.14946486	0.35288	-6.948	0.53654	T	0.4055947127188136	0.49674	0.113	0.28464	B	.;.;.;.	.;.;.;.	2.750252	0.36045	20.1	0.99232986696001357	0.56278	0.93487	0.58350	D	AEFBI	0.476695	0.52000	N	0.323113173520435	0.57338	3.90062	0.349179188233158	0.58457	4.016375	0.999999650999292	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.723	0.93126	0	.	.	4.98	4.98	0.65679	4.103000	0.57517	3.999000	0.41057	-0.093000	0.16093	1.000000	0.71638	0.997000	0.33255	0.845000	0.39915	1.0:0.0:0.0:0.0	13.199	0.59182	729	0.54495	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005705	0.005051	0.005435	0.007042	0.000000	0.000000	0.006098	0.011364	0.1667	3831.06	36	chr1	77929446	.	A	C	3831.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.12;DP=452;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=0.741;SOR=0.667	GT:AD:DP:GQ:PL	0/1:80,94:174:99:2506,0,1930	4	0	2	0
chr1	85158757	85158757	C	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.G3578C:p.S1193T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00707251258688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.064	0.44905	T	0.132	0.27209	B	0.031	0.21939	B	0.000003	0.62929	D	0.141141	0.856995	0.28413	N	2.89	0.83701	M	3.03	0.08898	T	-1.07	0.27876	N	0.197	0.21710	-1.0013	0.29545	T	0.008	0.02926	T	10	0.10845104	0.20189	T	0.007073	0.18731	T	0.060	0.17295	0.133	0.03747	0.115124310173	0.11017	0.1666088604543345	0.16580	0.261245587848	0.28675	0.516227483749	0.41095	T	0.015102	0.12732	T	-0.18471	0.23038	T	-0.503099	0.22027	T	0.930839061737061	0.59580	D	0.288071	0.05188	T	0.4173487	0.61915	0.2945027	0.55481	0.4173487	0.61916	0.2945027	0.55480	-4.469	0.30481	T	.	.	0.083	0.09094	B	.	.	1.981754	0.25175	16.67	0.98157459387076473	0.38747	0.94396	0.61032	D	AEFGBI	0.405519	0.47837	N	-0.0772867669948402	0.38391	2.247741	0.106188889006462	0.44865	2.760029	0.995644873868107	0.34242	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	5.05	0.67566	3.147000	0.50335	2.710000	0.34229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.7371:0.2629:0.0	15.424	0.74759	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	338.61	61	chr1	85158757	.	C	G	338.61	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-0.43;DP=368;ExcessHet=3.1439;FS=172.787;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.59;ReadPosRankSum=0.604;SOR=8.414	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,13:55:70:0|1:85158756_A_G:70,0,1201:85158756	1	0	4	1
chr1	108718912	108718912	G	A	exonic	FNDC7	.	nonsynonymous SNV	FNDC7:NM_001144937:exon4:c.G461A:p.S154N	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	0.0015	0.000599042	0.0014	0.0005	0	0	0.0062	0.0019	0.0124	0	0.000608	94	154602	rs61747960	0.0032	0.0031	0.0033	0.0031	0.0036	0.0031	0.0031	0.0035	0.0035	0.0004	0.0007	0.0002	0	0.0067	0.0005	0.0036	0.0033	0.0002	0.0026	0.0026	0.0025	0.0028	0.0037	0.0024	0.0023	0.0033	0.0032	0.0008	0	0.0018	0.0003	0	0.0075	0	0.0037	0.0038	0.0004	0.579	0.06011	T	0.538	0.09829	T	.	.	.	.	.	.	0.002886	0.35770	N	0.353536	1	0.08975	N	0.345	0.11182	N	0.36	0.57880	T	0.33	0.03889	N	0.04	0.01347	-1.0404	0.17192	T	0.030	0.12892	T	10	0.0028458834	0.00045	T	.	.	.	0.069	0.20116	.	.	0.454893017966	0.45111	0.1538356062930653	0.15305	0.100186145795	0.11325	0.315197557211	0.12693	T	0.002145	0.01547	T	-0.604862	0.00136	T	-0.641215	0.09581	T	0.00364854343212403	0.00039	T	0.565643	0.19997	T	0.083984576	0.19417	0.0915019	0.21516	0.083984576	0.19417	0.0915019	0.21515	-3.759	0.20194	T	.	.	0.062	0.01328	B	.	.	1.945277	0.24705	16.50	0.89260968129017237	0.18646	0.58998	0.30794	D	AEFDBI	0.076229	0.15330	N	-0.564539761680465	0.20030	1.052898	-0.402070508313336	0.24936	1.368391	0.999983515645666	0.51787	0.516011	0.20929	0	0.610034	0.51514	0	0.608075	0.38828	0	0.613276	0.41899	0	.	.	5.69	4.78	0.60666	1.232000	0.32238	5.115000	0.47543	0.676000	0.76740	0.122000	0.23210	1.000000	0.68203	0.918000	0.45347	0.1461:0.0:0.8539:0.0	10.619	0.44660	806	0.43582	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	0.002506	0.000000	0.009091	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1420.83	33	chr1	108718912	.	G	A	1420.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.03;DP=280;ExcessHet=0;FS=0.719;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=-1.172;SOR=0.806	GT:AD:DP:GQ:PL	0/1:53,54:107:99:1431,0,1270	5	0	1	0
chr1	109264342	109264342	C	T	exonic	CELSR2	.	nonsynonymous SNV	CELSR2:NM_001408:exon10:c.C5266T:p.R1756C	.	416	1104	2	0	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.0769515876763	.	.	9.133e-05	0	0	0	0	9.079e-05	0	0.0003	7.76e-05	12	154602	rs115968305	0.0002	0.0002	0.0002	0.0001	0.0021	0.0002	0.0001	0.0012	0.0009	0.0002	8.963e-05	0	0	0	0.0021	0.0002	8.318e-05	0.0002	5.912e-05	5.909e-05	3.853e-05	8.067e-05	0.0002	3.076e-05	2.209e-05	1.972e-05	1.124e-05	7.236e-05	0	0	0	0.0002	0	0	5.879e-05	0	0.0002	0.045	0.40832	D	0.012	0.63918	D	0.994	0.66517	D	0.72	0.54860	P	.	.	.	.	0.997	0.22962	N	1.04	0.26193	L	-1.02	0.76300	T	-3.66	0.70067	D	0.442	0.48042	-0.6691	0.61869	T	0.294	0.66564	T	9	0.48876777	0.60866	T	0.076952	0.72654	D	0.393	0.70844	0.736	0.86892	0.713686852558	0.71118	0.7018235300873554	0.70123	1.25257871173	0.81842	0.502263188362	0.39143	T	0.637684	0.88850	D	-0.193776	0.21704	T	-0.223974	0.52353	T	0.426402517055776	0.29927	T	0.973303	0.90409	D	0.19419156	0.41159	0.16138187	0.37540	0.19419156	0.41159	0.16138187	0.37539	-9.978	0.73780	D	0.18048007136010408	0.23229	0.226	0.45810	B	.	.	4.575236	0.72228	25.8	0.99913946712027502	0.98238	0.11425	0.16625	N	AEFGBCI	0.079594	0.16080	N	0.230228980882343	0.52669	3.439614	0.214003370614397	0.50622	3.252503	0.999910113054079	0.45857	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.691587	0.68394	0	.	.	5.14	5.14	0.70008	0.256000	0.18120	5.853000	0.50357	0.599000	0.40250	0.000000	0.06391	1.000000	0.68203	0.582000	0.30943	0.0:0.9148:0.0:0.0852	11.650	0.50542	791	0.46100	Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1042.83	36	chr1	109264342	.	C	T	1042.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.87;DP=274;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=-0.607;SOR=0.656	GT:AD:DP:GQ:PL	0/1:26,36:62:99:1053,0,613	5	0	1	0
chr1	110222980	110222980	C	T	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C695T:p.S232F,KCNC4:NM_001377330:exon2:c.C695T:p.S232F,KCNC4:NM_004978:exon2:c.C695T:p.S232F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.963	0.415390360335	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.555	0.93317	H	-4.42	0.97469	D	-5.48	0.85692	D	0.943	0.95021	1.104	0.99799	D	0.957	0.98595	D	10	0.9137001	0.90733	D	0.41539	0.93684	D	0.963	0.99463	0.703	0.83962	0.995042213014	0.99499	0.9843020259973444	0.98423	2.2832383922	0.96332	0.910830080509	0.97548	D	0.846159	0.96455	D	0.577664	0.96961	D	0.591998	0.96911	D	0.997341215610504	0.91335	D	0.989601	0.96561	D	0.9369454	0.94937	0.8874197	0.94084	0.9369454	0.94937	0.8874197	0.94084	-14.666	0.95149	D	.	.	0.999	0.98504	P	.;.;.	.;.;.	5.472584	0.91291	32	0.99814070080180828	0.89797	0.98768	0.86602	D	AEFDGBI	0.882603	0.81085	D	0.854570977669688	0.89366	9.942557	0.788536410759702	0.88985	9.792933	0.999999999988739	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.88	4.88	0.63131	7.905000	0.86479	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.385	0.90408	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	59.34	34	chr1	110222980	.	C	T	59.34	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-4.094;DP=490;ExcessHet=0;FS=31.242;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.5;ReadPosRankSum=2.56;SOR=4.823	GT:AD:DP:GQ:PL	0/1:101,18:119:68:68,0,3479	4	0	1	1
chr1	111477698	111477698	G	A	exonic	C1orf162	.	nonsynonymous SNV	C1orf162:NM_001300835:exon4:c.G163A:p.V55I,C1orf162:NM_174896:exon5:c.G250A:p.V84I	.	420	1082	19	1	0	21	0.00961098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00409375774602	0.0005	0.00159744	0.0016	0.0002	0.0009	0	0	0.0006	0.0022	0.0090	0.0013907	215	154602	rs140103670	0.0010	0.0010	0.0007	0.0012	0.0082	0.0009	0.0009	0.0077	0.0075	0.0001	0.0006	0.0010	0	0	0.0045	0.0005	0.0011	0.0082	0.0006	0.0006	0.0006	0.0006	0.0069	0.0005	0.0005	0.0050	0.0044	0.0001	0	0.0003	0.0012	0	0	0	0.0006	0.0005	0.0069	0.229	0.18371	T	0.427	0.13832	T	0.046	0.21875	B	0.011	0.15521	B	0.095398	0.02496	N	2.152440	1	0.08975	N	0.69	0.16971	N	0.75	0.50192	T	-0.17	0.09627	N	0.099	0.08088	-1.0725	0.08873	T	0.027	0.11485	T	10	0.0035338998	0.00063	T	0.004094	0.09775	T	0.009	0.00846	.	.	0.0138822411134	0.00435	0.0694724589363589	0.06885	0.417457423283	0.42365	.	.	.	0.002328	0.01720	T	-0.659428	0.00063	T	-0.714026	0.05090	T	0.00108029322057687	0.00010	T	0.322168	0.06550	T	0.035075165	0.04059	0.033002805	0.02125	0.035075165	0.04059	0.033002805	0.02125	-3.601	0.17871	T	.	.	0.112	0.21987	B	.	.	0.585064	0.09533	6.312	0.92389584783126355	0.21800	0.01920	0.05866	N	AEFDBI	0.032020	0.03537	N	-1.30145367959959	0.03659	0.1638355	-1.36204659220269	0.03666	0.1714712	0.999820827371025	0.43622	0.600919	0.35232	0	0.596877	0.49441	0	0.624306	0.44879	0	0.613276	0.41899	0	.	.	4.1	-2.52	0.05978	0.261000	0.18211	1.116000	0.24201	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.5629:0.0:0.2656:0.1714	4.289	0.10313	651	0.62880	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.000000	0.001359	0.000000	0.000000	0.017241	0.012195	0.018939	0.08333	996.83	38	chr1	111477698	.	G	A	996.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.117;DP=280;ExcessHet=0;FS=4.718;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=-0.093;SOR=0.29	GT:AD:DP:GQ:PL	0/1:41,41:82:99:1007,0,1184	5	0	1	0
chr1	114732648	114732648	C	G	exonic	CSDE1	.	nonsynonymous SNV	CSDE1:NM_001242893:exon8:c.G913C:p.V305L,CSDE1:NM_001242892:exon9:c.G1006C:p.V336L,CSDE1:NM_007158:exon9:c.G913C:p.V305L,CSDE1:NM_001007553:exon10:c.G1006C:p.V336L,CSDE1:NM_001130523:exon10:c.G1051C:p.V351L,CSDE1:NM_001242891:exon11:c.G1144C:p.V382L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00302580783907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.572e-05	0.0005	3.966e-05	3.175e-05	4.338e-05	2.774e-05	2.512e-05	3.36e-05	2.971e-05	0	0	3.834e-05	0	0	0	4.338e-05	3.322e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.019	0.17989	B	0.007	0.12992	B	0.000054	0.53742	D	0.166893	0.995854	0.46032	D	-1.005	0.01165	N	.	.	.	1.46	0.00775	N	0.49	0.52651	-0.9514	0.40730	T	0.015	0.06186	T	9	0.1688331	0.31457	T	0.003026	0.06487	T	0.141	0.37795	0.283	0.23961	0.438345833192	0.43453	0.47999988597583465	0.47919	0.664778676347	0.59103	0.696112155914	0.66584	T	0.116941	0.43665	T	-0.00863497	0.50457	T	-0.25018	0.49799	T	0.698000967502594	0.40624	D	0.917108	0.76468	D	0.059146494	0.11985	0.09358893	0.22112	0.059146494	0.11985	0.09358893	0.22111	-6.727	0.59015	T	.	.	0.240	0.47513	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.228914	0.64023	24.7	0.79526294004721843	0.12782	0.91046	0.52754	D	AEFBCI	0.679294	0.64337	D	-0.4128236221243	0.25018	1.355104	-0.0758002100467609	0.36392	2.117378	0.809094888011598	0.24323	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.89	5.89	0.94758	4.456000	0.59820	7.732000	0.67763	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.1424:0.8576:0.0:0.0	15.011	0.71206	854	0.34840	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	589.38	89	chr1	114732648	.	C	G	589.38	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-1.279;DP=588;ExcessHet=3.1439;FS=460.937;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.71;ReadPosRankSum=2.38;SOR=10.1	GT:AD:DP:GQ:PL	0/1:47,24:80:99:137,0,672	1	0	4	1
chr1	119727080	119727080	G	A	exonic	PHGDH	.	nonsynonymous SNV	PHGDH:NM_006623:exon5:c.G488A:p.R163Q	Neu-Laxova syndrome 1, Autosomal recessive;Phosphoglycerate dehydrogenase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	143179	not_provided|PHGDH_deficiency|Neu-Laxova_syndrome_1	MedGen:C3661900|MONDO:MONDO:0011152,MedGen:C1866174,OMIM:601815,Orphanet:79351|MONDO:MONDO:0009736,MedGen:C4551478,OMIM:256520,Orphanet:2671,Orphanet:583607	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.968	0.522875780875	.	.	8.248e-06	0	0	0	0	0	0	6.072e-05	6.5e-06	1	154602	rs587777483	4.82e-06	7.526e-06	4.115e-06	5.531e-06	2.522e-05	2e-06	1.29e-06	8.5e-07	5.7e-07	0	0	0	2.522e-05	0	0	3.626e-06	1.664e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.036	0.52060	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.915	0.84231	M	-1.53	0.81559	D	-3.95	0.73477	D	0.908	0.90932	0.730	0.93547	D	0.766	0.92040	D	10	0.9194493	0.91301	D	0.522876	0.95473	D	0.968	0.99597	0.703	0.83962	0.963768508205	0.96337	0.8678554530528497	0.86750	0.944994080329	0.72380	0.577394008636	0.49719	T	0.922284	0.98619	D	0.353777	0.86771	D	0.367254	0.90971	D	0.991514325141907	0.81819	D	0.938806	0.77799	D	0.9711548	0.98367	0.93692476	0.97564	0.97759515	0.98921	0.95218337	0.98530	-13.08	0.89690	D	0.8093713931170455	0.88463	0.729	0.74143	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	6.706169	0.95620	35	0.99961983653131414	0.99998	0.97188	0.73208	D	AEFDBCI	0.940178	0.94179	D	1.09868009541036	0.98110	17.45019	1.03752135420388	0.99230	21.350	1.0	0.98316	0.722319	0.85440	0	0.724815	0.89359	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.83	5.83	0.93059	9.853000	0.98388	11.567000	0.93263	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.682	0.91510	752	0.51611	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1;D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	870.83	37	chr1	119727080	.	G	A	870.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.54;DP=239;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=0.408;SOR=0.77	GT:AD:DP:GQ:PL	0/1:35,34:69:99:881,0,813	5	0	1	0
chr1	144435839	144435839	C	G	exonic	NBPF15	.	nonsynonymous SNV	NBPF15:NM_001385417:exon6:c.G508C:p.D170H,NBPF15:NM_001385448:exon6:c.G508C:p.D170H,NBPF15:NM_001385405:exon7:c.G508C:p.D170H,NBPF15:NM_001385447:exon7:c.G508C:p.D170H,NBPF15:NM_001385410:exon8:c.G508C:p.D170H,NBPF15:NM_001385413:exon8:c.G508C:p.D170H,NBPF15:NM_001385416:exon8:c.G508C:p.D170H,NBPF15:NM_001385432:exon8:c.G508C:p.D170H,NBPF15:NM_001385438:exon8:c.G508C:p.D170H,NBPF15:NM_001385446:exon8:c.G508C:p.D170H,NBPF15:NM_001385407:exon9:c.G508C:p.D170H,NBPF15:NM_001385418:exon9:c.G508C:p.D170H,NBPF15:NM_001385424:exon9:c.G508C:p.D170H,NBPF15:NM_001385427:exon9:c.G508C:p.D170H,NBPF15:NM_001385439:exon9:c.G508C:p.D170H,NBPF15:NM_001385440:exon9:c.G508C:p.D170H,NBPF15:NM_001385443:exon9:c.G508C:p.D170H,NBPF15:NM_001385445:exon9:c.G508C:p.D170H,NBPF15:NM_001385376:exon10:c.G508C:p.D170H,NBPF15:NM_001385377:exon10:c.G508C:p.D170H,NBPF15:NM_001385403:exon10:c.G508C:p.D170H,NBPF15:NM_001385404:exon10:c.G508C:p.D170H,NBPF15:NM_001385409:exon10:c.G508C:p.D170H,NBPF15:NM_001385411:exon10:c.G508C:p.D170H,NBPF15:NM_001385414:exon10:c.G508C:p.D170H,NBPF15:NM_001385441:exon10:c.G508C:p.D170H,NBPF15:NM_173638:exon10:c.G508C:p.D170H,NBPF15:NM_001385373:exon11:c.G508C:p.D170H,NBPF15:NM_001385374:exon11:c.G508C:p.D170H,NBPF15:NM_001385375:exon11:c.G508C:p.D170H,NBPF15:NM_001385408:exon11:c.G508C:p.D170H,NBPF15:NM_001385412:exon11:c.G508C:p.D170H,NBPF15:NM_001385415:exon11:c.G508C:p.D170H,NBPF15:NM_001385420:exon11:c.G508C:p.D170H,NBPF15:NM_001385423:exon11:c.G508C:p.D170H,NBPF15:NM_001385430:exon11:c.G508C:p.D170H,NBPF15:NM_001385431:exon11:c.G508C:p.D170H,NBPF15:NM_001385433:exon11:c.G508C:p.D170H,NBPF15:NM_001385434:exon11:c.G508C:p.D170H,NBPF15:NM_001385436:exon11:c.G508C:p.D170H,NBPF15:NM_001385442:exon11:c.G508C:p.D170H,NBPF15:NM_001385444:exon11:c.G508C:p.D170H,NBPF15:NM_001385378:exon12:c.G508C:p.D170H,NBPF15:NM_001385406:exon12:c.G508C:p.D170H,NBPF15:NM_001385419:exon12:c.G508C:p.D170H,NBPF15:NM_001385421:exon12:c.G508C:p.D170H,NBPF15:NM_001385422:exon12:c.G508C:p.D170H,NBPF15:NM_001385425:exon12:c.G508C:p.D170H,NBPF15:NM_001385428:exon12:c.G508C:p.D170H,NBPF15:NM_001385429:exon12:c.G508C:p.D170H,NBPF15:NM_001385435:exon12:c.G508C:p.D170H,NBPF15:NM_001385437:exon12:c.G508C:p.D170H,NBPF15:NM_001170755:exon13:c.G508C:p.D170H,NBPF15:NM_001385426:exon13:c.G508C:p.D170H	.	465	910	147	0	0	147	0.0747331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.331e-05	8.551e-05	0	2.723e-05	4.948e-05	2.21e-06	8.3e-07	8.2e-06	3.07e-06	4.948e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.027	0.55341	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.14	0.02839	T	.	.	.	0.126	0.11912	.	.	.	.	.	.	.	0.072508216	0.10832	T	.	.	.	.	.	.	.	.	.	0.02086796461604304	0.02039	.	.	.	.	.	0.035888	0.23893	T	.	.	.	.	.	.	.	.	.	0.874313	0.58483	D	.	.	.	.	.	.	.	.	-7.302	0.56210	T	.	.	0.149	0.32945	B	.;.;.	.;.;.	0.829778	0.12010	8.569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.760000	0.01905	-4.297000	0.02231	-3.345000	0.00094	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	.	.	.	.	.	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	221.06	92	chr1	144435839	.	C	G	221.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.633;DP=479;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=31.42;MQRankSum=-1.912;QD=1.37;ReadPosRankSum=2.91;SOR=0.409	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,7:69:99:0|1:144435839_C_G:107,0,2536:144435839	4	0	2	0
chr1	148533164	148533164	G	C	exonic	NBPF14	.	stopgain	NBPF14:NM_015383:exon66:c.C8301G:p.Y2767X	.	792	726	4	0	0	4	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.307e-05	0	0	0	0	4.497e-05	0	6.056e-05	.	.	.	rs1461452258	0.0016	0.0012	0.0015	0.0016	0.0194	0.0015	0.0015	0.0149	0.0133	0.0014	0.0036	0.0072	0	3.319e-05	0.0194	0.0013	0.0031	0.0013	0.0017	0.0016	0.0015	0.0019	0.0027	0.0015	0.0014	0.0017	0.0014	0.0008	0	0.0027	0.0052	0	0	0.0282	0.0017	0.0118	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999925	0.54805	D	.	.	.	.	.	.	.	.	.	0.193	0.34228	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203067	0.74179	D	0.117561	0.78073	D	0.748487114906311	0.43201	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.	.;.;.;.;.;.	5.803417	0.93624	33	0.90715762551554557	0.19965	0.00100	0.00648	N	AEFI	0.021612	0.00982	N	-0.37309071805878	0.26432	1.442484	-0.82933629948695	0.13786	0.7170012	4.46773967751996E-5	0.03989	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	0.445	-0.891	0.10038	0.914000	0.28246	-12.751000	0.00503	0.222000	0.18087	0.004000	0.16614	0.000000	0.08366	0.013000	0.09966	.	.	.	929	0.16858	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	77.07	8	chr1	148533164	.	G	C	77.07	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.385;DP=41;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=34.12;MQRankSum=-0.598;QD=12.84;ReadPosRankSum=0.598;SOR=0.991	GT:AD:DP:GQ:PL	0/1:3,3:6:87:87,0,99	5	0	1	0
chr1	149075685	149075685	C	A	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon7:c.G958T:p.G320C,NBPF9:NM_001277444:exon7:c.G958T:p.G320C	.	409	361	749	3	0	755	0.511171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	.	.	5.909e-05	0	0	0	0	0	0	0.0004	3.84e-05	1	26028	rs1385733241	9.61e-06	5.749e-05	1.23e-05	6.897e-06	2.519e-05	5.58e-06	4.36e-06	4.56e-06	3.33e-06	0	0	3.836e-05	2.519e-05	0	0	9.021e-06	3.323e-05	0	1.317e-05	3.942e-05	2.575e-05	0	2.946e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.946e-05	0	0	.	.	.	0.365	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.21580	.	.	.	.	.	.	.	0.12383446	0.23512	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.811819	0.46320	T	.	.	.	.	.	.	.	.	-4.7	0.44930	T	.	.	0.071	0.39220	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.560151	0.09286	6.069	.	.	.	.	.	.	0.017031	0.00420	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.056000	0.11744	0.032000	0.13746	-1.437000	0.01108	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	889	0.27310	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	8202.55	266	chr1	149075685	.	C	A	8202.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.61;DP=2144;ExcessHet=11.5949;FS=8.173;MLEAC=6;MLEAF=0.5;MQ=46.31;MQRankSum=-4.83;QD=3.87;ReadPosRankSum=-0.703;SOR=1.392	GT:AD:DP:GQ:PL	0/1:232,136:368:99:2892,0,5650	0	0	6	0
chr1	151518550	151518550	C	T	exonic	CGN	.	nonsynonymous SNV	CGN:NM_020770:exon2:c.C31T:p.R11W	.	437	1061	24	0	0	24	0.0111836	.	.	.	731726	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.136	0.0478829997555	0.0018	0.000599042	0.0028	0.0002	0.0069	0.0001	0	0.0035	0.0067	0.0011	0.0024838	384	154602	rs144766457	0.0017	0.0017	0.0017	0.0018	0.0191	0.0017	0.0016	0.0162	0.0151	0.0005	0.0044	0.0298	7.58e-05	0	0.0191	0.0010	0.0040	0.0010	0.0020	0.0020	0.0022	0.0017	0.0031	0.0018	0.0017	0.0024	0.0022	0.0003	0	0.0031	0.0335	0	0	0.0136	0.0015	0.0057	0.0004	0.031	0.47320	D	0.005	0.72224	D	.	.	.	.	.	.	0.006353	0.32094	N	0.330224	0.999953	0.19072	N	.	.	.	0.76	0.66474	T	-2.57	0.55501	D	0.37	0.41162	-0.8191	0.53990	T	0.230	0.59595	T	10	0.0065971613	0.00149	T	0.047883	0.63125	D	0.136	0.36778	.	.	0.540243489925	0.53678	0.18238191413688404	0.18157	0.637029871856	0.57456	0.450696766376	0.32039	T	0.042694	0.26264	T	-0.366999	0.03748	T	-0.294254	0.45329	T	0.0707966587591974	0.08761	T	0.771723	0.40231	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.41708	B	.;.;.;.	.;.;.;.	3.995823	0.58848	24.0	0.99872361705083901	0.94989	0.76947	0.37782	D	AEFBI	0.343454	0.43926	N	0.130253672131267	0.47878	3.007467	0.0656810671519602	0.42836	2.598033	0.00726268339345058	0.11424	0.732398	0.92422	0	0.610034	0.51514	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	4.95	1.95	0.25130	0.370000	0.20166	1.017000	0.23376	-0.835000	0.02838	0.888000	0.31154	0.745000	0.26509	0.701000	0.34172	0.269:0.6555:0.0:0.0755	8.184	0.30491	412	0.82007	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.019637	0.025253	0.028533	0.029240	0.000000	0.017241	0.003049	0.003788	0.08333	1207.83	39	chr1	151518550	.	C	T	1207.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.93;DP=265;ExcessHet=0;FS=7.444;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=-0.903;SOR=1.508	GT:AD:DP:GQ:PL	0/1:47,40:87:99:1218,0,1091	5	0	1	0
chr1	152109147	152109147	T	C	exonic	TCHH	.	nonsynonymous SNV	TCHH:NM_007113:exon3:c.A4070G:p.E1357G	.	414	1090	18	0	0	18	0.00818926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00199687680997	0.0014	0.000599042	0.0015	0.0004	0.0027	0	0	0.0016	0.0089	0.0016	0.0012936	200	154602	rs187205661	0.0010	0.0010	0.0009	0.0011	0.0120	0.0009	0.0009	0.0097	0.0089	0.0002	0.0025	0.0052	0	0.0001	0.0120	0.0008	0.0020	0.0014	0.0011	0.0011	0.0011	0.0010	0.0031	0.0009	0.0009	0.0024	0.0021	0.0001	0	0.0031	0.0063	0	9.407e-05	0.0136	0.0011	0.0028	0.0010	0.004	0.65419	D	0.012	0.63918	D	0.999	0.77913	D	0.886	0.62898	P	.	.	.	.	1	0.08975	N	2.605	0.76211	M	3.02	0.08986	T	-2.09	0.47683	N	0.17	0.18376	-1.0393	0.17526	T	0.020	0.08266	T	9	0.006308019	0.00142	T	0.001997	0.03615	T	0.070	0.20419	.	.	0.540153309661	0.53666	0.029142579865045516	0.02863	0.310527836263	0.33367	0.276593744755	0.07023	T	0.003272	0.02677	T	-0.522414	0.00426	T	-0.517497	0.20548	T	0.0236382078003124	0.01101	T	0.381062	0.09207	T	0.05759065	0.11479	0.115004845	0.27761	0.07775522	0.17667	0.08821971	0.20556	-8.197	0.62405	D	.	.	0.368	0.58715	A	.;.	.;.	2.059286	0.26183	17.03	0.94218210039858263	0.24465	0.13547	0.17918	N	AEFDBCI	0.108189	0.21531	N	-0.261898997275469	0.30631	1.709767	-0.492664172177704	0.22355	1.213806	0.999993752611818	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	4.08	1.62	0.22817	0.304000	0.18983	.	.	-0.160000	0.11618	0.000000	0.06391	.	.	0.351000	0.25682	0.1863:0.2139:0.0:0.5998	2.865	0.05254	478	0.77585	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.013595	0.010101	0.020380	0.014620	0.150000	0.000000	0.006098	0.007576	0.08333	1680.83	86	chr1	152109147	.	T	C	1680.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.416;DP=689;ExcessHet=0;FS=1.381;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=-1.83;SOR=0.851	GT:AD:DP:GQ:PL	0/1:65,66:131:99:1691,0,1737	5	0	1	0
chr1	152214827	152214827	A	0	exonic	HRNR	.	.	.	.	441	898	8	0	175	183	0.00443459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	285.01	227	chr1	152214827	.	A	*	285.01	.	AC=5;AF=0.417;AN=12;BaseQRankSum=6;DP=2005;ExcessHet=11.5949;FS=42.868;MLEAC=5;MLEAF=0.417;MQ=27.08;MQRankSum=1.49;QD=0.14;ReadPosRankSum=-4.79;SOR=9.915	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:200,51:251:99:0|1:152214821_T_A:1487,0,8192:152214821	1	0	5	0
chr1	152214830	152214830	C	0	exonic	HRNR	.	.	.	.	441	924	156	0	1	157	0.0778443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	237.97	217	chr1	152214830	.	C	*	237.97	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.353;DP=1996;ExcessHet=11.5949;FS=43.009;MLEAC=5;MLEAF=0.417;MQ=26.78;MQRankSum=1.21;QD=0.12;ReadPosRankSum=-4.939;SOR=9.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:200,51:251:99:0|1:152214821_T_A:1487,0,8192:152214821	1	0	5	0
chr1	152306286	152306286	A	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T8600G:p.I2867S	Ichthyosis vulgaris, Autosomal dominant	1	1398	122	1	0	124	0.0424658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	0.0139776	1.664e-05	0	0.0002	0	0	0	0	0	0.0026894	70	26028	rs562496957	0.0004	0.0017	0.0004	0.0004	0.0182	0.0004	0.0004	0.0169	0.0164	0.0182	0.0001	0	5.157e-05	0	0	4.499e-06	0.0002	4.649e-05	0.0001	0.0087	0.0001	0.0001	0.0007	8.399e-05	6.959e-05	0.0002	0.0001	0.0003	0	0.0003	0	0.0007	9.781e-05	0	1.508e-05	0	0	1.0	0.00964	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.695	0.00033	N	4.44	0.02139	T	1.22	0.01051	N	0.108	0.09349	-0.9320	0.43844	T	0.000	0.00114	T	9	0.005701959	0.00127	T	.	.	.	0.028	0.06331	.	.	0.0666544352282	0.05500	0.03254880392644141	0.03202	.	.	0.232478544116	0.02157	T	0.011277	0.10082	T	-0.338118	0.05519	T	-0.72346	0.04630	T	0.0612642933428966	0.07366	T	0.29767	0.05533	T	0.03513105	0.04077	0.070264496	0.14906	0.03513105	0.04077	0.070264496	0.14905	0.608	0.00192	T	.	.	0.072	0.04316	B	.	.	-0.356046	0.02382	0.263	0.50286818611689099	0.04358	0.00033	0.00296	N	AEFI	0.012106	0.00124	N	-1.93142500550348	0.00296	0.01268816	-1.86376335753537	0.00576	0.0255669	2.65845221984093E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.09	-2.54	0.05941	-0.796000	0.04680	.	.	-0.434000	0.05191	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3682:0.2705:0.3613:0.0	5.099	0.14083	561	0.71236	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	483.83	69	chr1	152306286	.	A	C	483.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.089;DP=1043;ExcessHet=0;FS=0.969;MLEAC=1;MLEAF=0.083;MQ=53.25;MQRankSum=-7.09;QD=0.64;ReadPosRankSum=5.01;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:697,63:760:99:0|1:152306286_A_C:494,0,28762:152306286	5	0	1	0
chr1	152306292	152306292	-	CC	exonic	FLG	.	frameshift insertion	FLG:NM_002016:exon3:c.8593_8594insGG:p.A2865Gfs*28	Ichthyosis vulgaris, Autosomal dominant	0	1397	124	1	0	126	0.0431507	.	.	.	1019162	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1205280854	0.0003	0.0016	0.0004	0.0003	0.0150	0.0003	0.0003	0.0139	0.0134	0.0150	8.971e-05	0	5.141e-05	0	0	0	0.0001	3.488e-05	9.776e-05	0.0079	0.0001	8.565e-05	0.0006	5.861e-05	4.725e-05	0.0002	8.916e-05	0.0002	0	0.0002	0	0.0006	9.509e-05	0	1.482e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	382.79	69	chr1	152306292	.	G	GCC	382.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.15;DP=1056;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=53.48;MQRankSum=-7.081;QD=0.49;ReadPosRankSum=5.3;SOR=0.633	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:721,62:783:99:0|1:152306286_A_C:393,0,29856:152306286	5	0	1	0
chr1	152306295	152306296	TG	-	exonic	FLG	.	frameshift deletion	FLG:NM_002016:exon3:c.8590_8591del:p.H2864Cfs*5	Ichthyosis vulgaris, Autosomal dominant	1	1401	119	1	0	121	0.0413958	.	.	.	1019163	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1407703398	0.0003	0.0015	0.0003	0.0002	0.0132	0.0003	0.0003	0.0121	0.0117	0.0132	8.971e-05	0	2.574e-05	0	0	0	8.32e-05	3.487e-05	7.227e-05	0.0080	7.064e-05	7.397e-05	0.0005	3.847e-05	2.957e-05	8.069e-05	3.381e-05	0.0001	0	0.0001	0	0.0005	9.714e-05	0	1.499e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	317.79	69	chr1	152306294	.	ATG	A	317.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.356;DP=1061;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=53.8;MQRankSum=-7.208;QD=0.4;ReadPosRankSum=5.26;SOR=0.565	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:728,60:788:99:0|1:152306286_A_C:328,0,30288:152306286	5	0	1	0
chr1	152306299	152306299	T	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A8587T:p.T2863S	Ichthyosis vulgaris, Autosomal dominant	1	1406	114	1	0	116	0.0396175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00815051428836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1271569013	0.0003	0.0015	0.0003	0.0002	0.0126	0.0003	0.0002	0.0116	0.0112	0.0126	8.971e-05	0	2.571e-05	0	0	4.498e-06	9.984e-05	1.162e-05	0.0002	0.0082	0.0002	0.0002	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0	0.0001	0	0.0005	9.694e-05	0	4.498e-05	0.0005	0	0.75	0.03587	T	.	.	.	0.477	0.36687	P	0.241	0.38645	B	.	.	.	.	1	0.08975	N	1.105	0.28596	L	4.7	0.01673	T	0.28	0.04233	N	0.048	0.01999	-0.9323	0.43799	T	0.002	0.00526	T	9	0.06755382	0.09427	T	0.008151	0.21598	T	0.011	0.01250	0.317	0.29419	0.162503812791	0.15892	0.035396750250694796	0.03486	.	.	0.270178943872	0.06164	T	0.009579	0.08713	T	-0.5121	0.00488	T	-0.68323	0.06789	T	0.0273883762299825	0.01600	T	0.216078	0.02692	T	0.025629967	0.01522	0.028810205	0.01152	0.025629967	0.01522	0.028810205	0.01152	-3.074	0.11000	T	.	.	0.090	0.12655	B	.	.	-0.112232	0.03568	0.691	0.56914044250386053	0.05655	0.01371	0.04680	N	AEFI	0.036336	0.04825	N	-0.963681291731912	0.09387	0.4441023	-1.1154303731441	0.07405	0.3600705	1.18193506777854E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.59	0.398	0.15542	-0.081000	0.11285	.	.	-1.396000	0.01145	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2327:0.0:0.7673	3.431	0.06999	561	0.71236	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	248.83	69	chr1	152306299	.	T	A	248.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.982;DP=1054;ExcessHet=0;FS=1.028;MLEAC=1;MLEAF=0.083;MQ=54.12;MQRankSum=-7.332;QD=0.32;ReadPosRankSum=4.67;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:723,58:781:99:0|1:152306286_A_C:259,0,30184:152306286	5	0	1	0
chr1	152312082	152312082	C	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G2804C:p.G935A	Ichthyosis vulgaris, Autosomal dominant	0	1491	31	0	0	31	0.0102887	.	.	.	1195865	FLG-related_disorder|Ichthyosis_vulgaris|not_provided	.|MONDO:MONDO:0024304,MedGen:C0079584,OMIM:146700|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.026	0.000885805589783	0.0026	0.000599042	0.0028	0.0003	0.0020	0	0	0.0042	0.0099	0.0015	0.0024967	386	154602	rs150503113	0.0019	0.0019	0.0018	0.0020	0.0222	0.0019	0.0018	0.0191	0.0179	0.0005	0.0030	0.0278	0	0.0001	0.0222	0.0013	0.0043	0.0013	0.0024	0.0024	0.0025	0.0022	0.0048	0.0022	0.0021	0.0040	0.0036	0.0003	0.0022	0.0048	0.0355	0	9.425e-05	0.0238	0.0019	0.0052	0.0008	0.018	0.50676	D	.	.	.	0.204	0.29802	B	0.069	0.27757	B	.	.	.	.	1	0.08975	N	2.735	0.79925	M	4.76	0.01576	T	-1.68	0.40082	N	0.096	0.07673	-0.9383	0.42885	T	0.002	0.00769	T	9	0.005888641	0.00132	T	8.86E-4	0.00800	T	0.026	0.05648	.	.	0.117506650769	0.11410	0.013417229045876907	0.01299	.	.	0.255646705627	0.04385	T	0.02681	0.19761	T	-0.682628	0.00046	T	-0.757315	0.03210	T	0.00847852903289858	0.00103	T	0.534247	0.17838	T	0.077396624	0.17565	0.060455702	0.11514	0.077396624	0.17564	0.060455702	0.11514	-8.24	0.62694	D	.	.	0.145	0.31857	B	.	.	-0.570785	0.01653	0.116	0.58113512807442025	0.05920	0.01243	0.04382	N	AEFBI	0.032672	0.03735	N	-1.15039363912109	0.05773	0.2640714	-1.32093414333687	0.04160	0.1956355	2.03026426021431E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.81	-1.91	0.07225	-1.041000	0.03653	.	.	0.297000	0.18867	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3637:0.2118:0.4245	3.331	0.06669	591	0.68823	.	.	.	.	.	.	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	0.019979	0.030303	0.029891	0.019531	0.100000	0.008621	0.003049	0.007576	0.08333	4549.83	86	chr1	152312082	.	C	G	4549.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.812;DP=1327;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=58.45;MQRankSum=5.12;QD=10.53;ReadPosRankSum=-1.317;SOR=0.695	GT:AD:DP:GQ:PL	0/1:239,193:432:99:4560,0,6847	5	0	1	0
chr1	152354901	152354901	C	T	exonic	FLG2	.	nonsynonymous SNV	FLG2:NM_001014342:exon3:c.G2885A:p.G962D	.	428	1092	2	0	0	2	0.000914913	.	.	.	2382142	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.145	0.00566937642023	0.0004	0.000199681	0.0003	0	0	0	0	0.0004	0.0011	6.056e-05	0.0002523	39	154602	rs145907775	0.0002	0.0002	0.0002	0.0002	0.0024	0.0002	0.0002	0.0015	0.0012	2.988e-05	0.0002	0	0	0	0.0024	0.0002	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0004	0.0002	0.0001	0.0002	0.0002	4.826e-05	0	0.0003	0	0	0	0.0034	0.0004	0	0.0004	0.33	0.13131	T	0.019	0.59159	D	0.987	0.61912	D	0.755	0.56206	P	.	.	.	.	1	0.08975	N	2.75	0.80375	M	0.94	0.43672	T	-3.63	0.69714	D	0.136	0.13341	-1.0474	0.15130	T	0.100	0.37085	T	9	0.07456434	0.11412	T	0.005669	0.14681	T	0.145	0.38592	.	.	0.358340041657	0.35441	0.04832170612761182	0.04775	0.0294652692224	0.03029	0.49427947402	0.38032	T	0.023711	0.18049	T	-0.414584	0.01854	T	-0.497039	0.22654	T	0.10360308876137	0.12748	T	0.539146	0.18203	T	0.126112	0.29546	0.16137019	0.37538	0.126112	0.29546	0.16137019	0.37537	-8.807	0.66446	D	.	.	0.471	0.63219	A	.	.	1.697602	0.21627	15.28	0.80822903611606545	0.13385	0.21201	0.21317	N	AEFDBI	0.129540	0.24776	N	-0.0480981081019849	0.39688	2.344478	-0.219549394219499	0.30835	1.739656	0.465468212117537	0.20661	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.12	4.12	0.47504	0.946000	0.28667	.	.	0.537000	0.25018	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	0.0:1.0:0.0:0.0	12.066	0.52888	562	0.71143	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001511	0.005051	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	6586.83	171	chr1	152354901	.	C	T	6586.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.533;DP=841;ExcessHet=0;FS=1.1;MLEAC=1;MLEAF=0.083;MQ=59.84;MQRankSum=-1.343;QD=12.74;ReadPosRankSum=0.572;SOR=0.692	GT:AD:DP:GQ:PL	0/1:258,259:517:99:6597,0,6842	5	0	1	0
chr1	152787513	152787513	G	A	exonic	LCE1E	.	nonsynonymous SNV	LCE1E:NM_178353:exon2:c.G214A:p.G72R	.	413	1066	39	4	0	47	0.0215695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00207463516295	0.0036	0.00159744	0.0048	0.0012	0.0038	0.0001	0.0032	0.0069	0.0089	0.0019	0.0042237	653	154602	rs148840667	0.0042	0.0042	0.0042	0.0043	0.0339	0.0042	0.0041	0.0300	0.0285	0.0010	0.0051	0.0285	2.519e-05	0.0040	0.0339	0.0037	0.0071	0.0030	0.0043	0.0043	0.0040	0.0046	0.0084	0.0040	0.0039	0.0072	0.0067	0.0007	0.0022	0.0084	0.0279	0.0002	0.0039	0.0238	0.0046	0.0099	0.0015	.	.	.	0.051	0.57587	T	0.997	0.70673	D	0.938	0.67350	D	0.052066	0.22926	N	0.222152	0.969984	0.25727	N	2.25	0.63811	M	3.68	0.04151	T	-1.88	0.43906	N	0.436	0.52029	-1.0889	0.05718	T	0.020	0.08500	T	10	0.008031726	0.00182	T	0.002075	0.03801	T	0.043	0.11576	0.175	0.08135	0.481321013822	0.47762	0.013290108626746108	0.01287	0.00415157904713	0.00368	0.458572030067	0.33115	T	0.008196	0.07540	T	-0.495427	0.00607	T	-0.482781	0.24152	T	0.0218803990945803	0.00896	T	0.291471	0.05330	T	0.5777508	0.71485	0.5177344	0.72136	0.5777508	0.71486	0.5177344	0.72136	-9.404	0.70260	D	.	.	0.223	0.46733	B	.;.;.	.;.;.	1.835216	0.23315	15.97	0.90672521180524235	0.19923	0.80367	0.40024	D	AEFBI	0.092124	0.18654	N	0.333941297055397	0.57897	3.959134	0.223333107658521	0.51145	3.29961	0.00429983819074504	0.10491	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.06	3.12	0.34986	2.012000	0.40551	.	.	0.563000	0.28513	0.996000	0.39380	0.003000	0.18671	0.648000	0.32638	0.0:0.0:0.779:0.221	9.013	0.35317	799	0.44747	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.027630	0.020202	0.035422	0.065574	0.000000	0.017241	0.018519	0.003788	0.08333	961.83	43	chr1	152787513	.	G	A	961.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.88;DP=291;ExcessHet=0;FS=3.749;MLEAC=1;MLEAF=0.083;MQ=55.46;MQRankSum=-1.036;QD=17.18;ReadPosRankSum=-1.718;SOR=0.796	GT:AD:DP:GQ:PL	0/1:26,30:56:99:972,0,678	5	0	1	0
chr1	153760378	153760378	C	G	exonic	INTS3	.	nonsynonymous SNV	INTS3:NM_023015:exon12:c.C1305G:p.D435E,INTS3:NM_001324475:exon13:c.C1305G:p.D435E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0101042060593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.109e-06	3.763e-05	5.452e-06	2.753e-06	5.404e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.404e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.096	0.39340	T	0.99	0.63424	D	0.971	0.76916	D	0.000000	0.84330	D	0.000000	0.999453	0.47118	D	.	.	.	.	.	.	-3.57	0.68999	D	0.889	0.88798	-0.8647	0.50922	T	0.172	0.51484	T	9	0.8319566	0.82357	D	0.010104	0.26235	T	0.557	0.81774	.	.	0.721551216883	0.71909	0.6563577712550202	0.65571	2.15008403777	0.95306	0.843462109566	0.88622	D	.	.	.	0.223	0.76021	D	0.0819729	0.75709	D	0.98498809337616	0.76116	D	.	.	.	.	.	.	.	.	.	.	.	-3.456	0.16153	T	.	.	0.998	0.97160	P	.;.;.	.;.;.	3.646224	0.51727	23.1	0.99633933635678729	0.76203	0.93226	0.57654	D	AEFBI	0.403545	0.47719	N	0.0683850253580956	0.44993	2.763348	0.0345004263229141	0.41329	2.481153	0.733851878871199	0.23096	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	2.28	0.27583	0.899000	0.28049	2.750000	0.34528	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.7504:0.0:0.2496	8.751	0.33774	123	0.95099	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	553.96	86	chr1	153760378	.	C	G	553.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.351;DP=611;ExcessHet=3.1439;FS=310.595;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.48;ReadPosRankSum=0.594;SOR=10.364	GT:AD:DP:GQ:PL	0/1:56,27:87:99:137,0,883	2	0	4	0
chr1	156265994	156265994	C	T	exonic	SMG5	.	nonsynonymous SNV	SMG5:NM_001323615:exon11:c.G1504A:p.A502T,SMG5:NM_001323614:exon12:c.G1642A:p.A548T,SMG5:NM_015327:exon12:c.G1642A:p.A548T,SMG5:NM_001323616:exon13:c.G1444A:p.A482T,SMG5:NM_001323617:exon13:c.G1444A:p.A482T	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00686898649207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.10378	T	0.755	0.04720	T	0.006	0.13644	B	0.006	0.12133	B	0.059243	0.22338	N	0.418381	0.780537	0.81001	D	0.345	0.11182	N	1.53	0.30401	T	0.33	0.03889	N	0.065	0.03726	-1.0143	0.25561	T	0.017	0.07045	T	10	0.050749987	0.04854	T	0.006869	0.18177	T	0.032	0.07718	0.129	0.03412	0.23798241625	0.23396	0.14739613286767775	0.14661	0.279614328332	0.30451	0.373606562614	0.21348	T	0.027215	0.19978	T	-0.232763	0.16284	T	-0.572125	0.15255	T	0.264113873243332	0.23494	T	0.676232	0.28483	T	0.03830949	0.05080	0.053168535	0.08904	0.03830949	0.05079	0.053168535	0.08904	-3.722	0.19643	T	.	.	0.067	0.02370	B	.	.	1.716873	0.21862	15.38	0.97865845215643532	0.36499	0.85284	0.44403	D	AEFGBCI	0.228543	0.35220	N	-0.263602415463722	0.30564	1.705406	-0.0186838774217988	0.38871	2.296433	0.99999999484152	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	0.295000	0.18821	3.993000	0.41005	0.599000	0.40250	0.992000	0.37556	1.000000	0.68203	0.948000	0.49324	0.0:0.9173:0.0:0.0827	11.476	0.49547	290	0.88477	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1732.83	35	chr1	156265994	.	C	T	1732.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.103;DP=299;ExcessHet=0;FS=1.519;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=-0.876;SOR=0.875	GT:AD:DP:GQ:PL	0/1:52,66:118:99:1743,0,1359	5	0	1	0
chr1	158999987	158999987	G	T	exonic	PYDC5	.	nonsynonymous SNV	PYDC5:NM_001320010:exon1:c.C326A:p.S109Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs938132603	0.0016	4.771e-06	0	0.0029	0.0179	0	0	.	.	0	0	0	0	0	0.0179	0	0	0	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	934.83	34	chr1	158999987	.	G	T	934.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.99;DP=239;ExcessHet=0;FS=3.873;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=-0.984;SOR=0.33	GT:AD:DP:GQ:PL	0/1:25,37:62:99:945,0,656	5	0	1	0
chr1	161048864	161048864	C	G	exonic	ARHGAP30	.	nonsynonymous SNV	ARHGAP30:NM_001287602:exon8:c.G1626C:p.K542N,ARHGAP30:NM_001287600:exon11:c.G1713C:p.K571N,ARHGAP30:NM_001025598:exon12:c.G2157C:p.K719N	.	371	1150	1	0	0	1	0.000434594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00594878585391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.237e-05	0.0009	1.505e-05	9.664e-06	2.999e-05	7.73e-06	6.38e-06	9.36e-06	7.65e-06	2.999e-05	0	0	0	0	0	1.537e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.06691	T	0.539	0.12037	T	0.0	0.02946	B	0.001	0.04355	B	0.167583	0.17472	N	0.469196	1	0.19238	N	0.55	0.14455	N	3.07	0.30133	T	0.59	0.02558	N	0.032	0.00825	-0.9399	0.42632	T	0.010	0.03673	T	10	0.032844096	0.01445	T	0.005949	0.15520	T	0.026	0.05648	0.085	0.00830	0.082315109003	0.07666	0.020223521516263606	0.01975	0.0321919343221	0.03346	0.227677255869	0.01800	T	0.007284	0.06695	T	-0.397532	0.02403	T	-0.808803	0.01692	T	0.0349868424236774	0.02805	T	0.608539	0.22995	T	0.041750744	0.06205	0.033273403	0.02195	0.041750744	0.06205	0.033273403	0.02195	-4.588	0.32020	T	.	.	0.104	0.29560	B	.;.	.;.	0.272084	0.06499	2.975	0.87093396735068451	0.16984	0.17351	0.19799	N	AEFDBCI	0.077101	0.15528	N	-1.02014869570935	0.08186	0.382952	-0.959379613406779	0.10706	0.5409345	0.999970802198825	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.590023	0.30420	0	0.567892	0.33627	0	.	.	4.64	2.21	0.27042	0.214000	0.17331	0.493000	0.18920	0.587000	0.30956	0.000000	0.06391	0.004000	0.18990	0.038000	0.14061	0.2667:0.4814:0.1544:0.0974	2.806	0.05095	531	0.73574	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	202.47	153	chr1	161048864	.	C	G	202.47	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-4.831;DP=954;ExcessHet=1.383;FS=196.336;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=0.727;SOR=9.624	GT:AD:DP:GQ:PL	0/1:104,24:138:9:9,0,2288	2	0	3	1
chr1	161550049	161550049	C	T	exonic	FCGR3A	.	startloss	FCGR3A:NM_001127592:exon1:c.G3A:p.M1?,FCGR3A:NM_001329122:exon1:c.G3A:p.M1?	Immunodeficiency 20, Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1361147348	0.0003	0.0002	0.0002	0.0004	0.0026	0.0003	0.0003	0.0022	0.0021	0	0	0	6.529e-05	0	0	7.661e-05	0.0002	0.0026	0.0001	0.0011	0.0001	0.0002	0.0021	9.871e-05	8.366e-05	0.0012	0.0009	4.869e-05	0	6.685e-05	0.0003	0	0	0	0.0001	0	0.0021	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.91	0.01413	T	0.08	0.06026	N	.	.	.	.	.	.	.	.	.	0.17027545	0.31681	T	.	.	.	.	.	.	.	.	.	0.003517549103997282	0.00328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9	0.65058	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.059933	0.03885	0.849	0.285415567651847	0.01470	0.01009	0.03809	N	AEFBI	.	.	.	.	.	.	.	.	.	0.976983464129967	0.29777	0.06567	0.01388	0	0.060609	0.00678	0	0.060301	0.00762	0	0.075334	0.01956	0	0.046875	0.06002	2.69	0.183	0.14365	0.189000	0.16845	-0.119000	0.11742	-0.356000	0.05535	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.477:0.523:0.0:0.0	6.974	0.23844	884	0.28482	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	184.83	38	chr1	161550049	.	C	T	184.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.15;DP=171;ExcessHet=0;FS=3.877;MLEAC=1;MLEAF=0.083;MQ=58.39;MQRankSum=-4.479;QD=4.62;ReadPosRankSum=-0.837;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,7:40:99:0|1:161550049_C_T:195,0,1355:161550049	5	0	1	0
chr1	161550050	161550050	A	T	exonic	FCGR3A	.	startloss	FCGR3A:NM_001127592:exon1:c.T2A:p.M1?,FCGR3A:NM_001329122:exon1:c.T2A:p.M1?	Immunodeficiency 20, Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1413912224	0.0003	0.0002	0.0002	0.0004	0.0026	0.0003	0.0003	0.0022	0.0021	0	0	0	6.563e-05	0	0	8.11e-05	0.0002	0.0026	0.0001	0.0011	0.0001	0.0002	0.0021	9.877e-05	8.371e-05	0.0012	0.0009	4.876e-05	0	6.701e-05	0.0003	0	0	0	0.0001	0	0.0021	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.82	0.01504	T	-0.29	0.11728	N	.	.	.	.	.	.	.	.	.	0.16292271	0.30521	T	.	.	.	.	.	.	.	.	.	0.011952954951393344	0.01155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9	0.65058	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062735	0.04731	1.362	0.58007394873161344	0.05896	0.00389	0.01958	N	AEFBI	.	.	.	.	.	.	.	.	.	0.992511449364876	0.32867	0.06567	0.01388	0	0.060609	0.00678	0	0.060301	0.00762	0	0.075334	0.01956	0	0.046875	0.06002	2.69	-2.77	0.05529	-0.481000	0.06631	-0.295000	0.10161	-0.754000	0.03558	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3309:0.2199:0.4492:0.0	4.190	0.09876	884	0.28482	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	184.83	38	chr1	161550050	.	A	T	184.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.63;DP=170;ExcessHet=0;FS=3.877;MLEAC=1;MLEAF=0.083;MQ=58.36;MQRankSum=-4.479;QD=4.62;ReadPosRankSum=-1.062;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,7:40:99:0|1:161550049_C_T:195,0,1355:161550049	5	0	1	0
chr1	163069254	163069254	G	T	exonic	RGS4	.	nonsynonymous SNV	RGS4:NM_001102445:exon2:c.G61T:p.A21S	.	417	1100	5	0	0	5	0.00226757	.	.	.	2329142	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.064	0.00990593748299	.	.	0.0007	0	0	0	0	0	0	0.0017	9.06e-05	14	154602	rs568489938	0.0001	0.0001	8.33e-05	0.0002	0.0016	0.0001	0.0001	0.0013	0.0012	0	0	3.991e-05	0	0	0.0015	2.69e-05	0.0002	0.0016	7.887e-05	7.876e-05	3.857e-05	0.0001	0.0010	4.498e-05	3.513e-05	0.0004	0.0003	0	0	0.0001	0	0	0	0	7.353e-05	0	0.0010	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.19599	N	.	.	.	0.4	0.57261	T	-0.06	0.07882	N	0.131	0.12627	-1.0347	0.18951	T	0.033	0.14073	T	8	0.009649575	0.00217	T	0.009906	0.25811	T	0.064	0.18567	0.214	0.13354	0.26547132957	0.26150	0.0699063980033322	0.06928	0.372228829988	0.38717	0.28360965848	0.08001	T	.	.	.	-0.616228	0.00116	T	-0.67696	0.07171	T	0.0273209629672393	0.01590	T	0.39926	0.10144	T	.	.	.	.	.	.	.	.	-3.753	0.20104	T	.	.	0.089	0.12037	B	.	.	1.146650	0.15341	11.78	0.93153903181100672	0.22803	0.15786	0.19081	N	ALL	0.158622	0.28431	N	-1.22836566662048	0.04592	0.2076101	-1.24416710562311	0.05217	0.248098	0.999999995582974	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.56214	0.19341	0	.	.	4.16	-2.34	0.06321	0.339000	0.19617	1.856000	0.29290	-0.151000	0.12117	0.001000	0.13787	0.997000	0.33255	0.397000	0.26714	0.0:0.5856:0.294:0.1204	10.123	0.41808	900	0.24599	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	621.83	34	chr1	163069254	.	G	T	621.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.455;DP=212;ExcessHet=0;FS=1.534;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.55;ReadPosRankSum=-0.287;SOR=1.112	GT:AD:DP:GQ:PL	0/1:17,23:40:99:632,0,502	5	0	1	0
chr1	165698533	165698533	G	C	exonic	ALDH9A1	.	nonsynonymous SNV	ALDH9A1:NM_000696:exon1:c.C26G:p.A9G	.	314	1203	4	1	0	6	0.00248756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.0455645472359	0.0007	0.000199681	0.0014	0.0001	0.0012	0	0	0.0022	0	0.0003	0.0010931	169	154602	rs200210709	0.0012	0.0012	0.0012	0.0013	0.0100	0.0012	0.0012	0.0079	0.0072	0.0010	0.0011	0.0160	0	1.903e-05	0.0100	0.0010	0.0028	0.0003	0.0010	0.0010	0.0010	0.0011	0.0011	0.0009	0.0009	0.0009	0.0008	0.0003	0	0.0005	0.0173	0	0	0.0034	0.0011	0.0014	0.0002	0.277	0.15665	T	0.248	0.23845	T	0.0	0.02946	B	0.001	0.04355	B	0.732814	0.06380	N	1.142240	1	0.08975	N	.	.	.	-1.1	0.77336	T	-0.75	0.21003	N	0.14	0.13911	-1.0402	0.17253	T	0.077	0.30798	T	9	0.0043208897	0.00087	T	0.045565	0.62042	D	0.136	0.36778	.	.	0.101711395817	0.09552	0.6065807008922226	0.60589	0.139891026364	0.15765	0.520396649837	0.41682	T	0.015201	0.12798	T	-0.507881	0.00516	T	-0.547864	0.17530	T	0.00702031117500352	0.00080	T	0.294071	0.05417	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.12371	B	.	.	-0.617969	0.01523	0.098	0.92303666165189657	0.21695	0.03630	0.08873	N	ALL	0.052198	0.09295	N	-1.35637156236917	0.03059	0.1360745	-1.39813453698933	0.03272	0.1522896	0.999999999990267	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.69	-3.3	0.04692	-1.841000	0.01776	-3.094000	0.03066	-0.681000	0.04224	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4274:0.1389:0.2931:0.1406	1.547	0.02412	887	0.27948	.	.	.	.	.	.	Likely benign	0	0	0	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	0.009082	0.005208	0.013587	0.017544	0.000000	0.008621	0.000000	0.000000	0.08333	307.83	38	chr1	165698533	.	G	C	307.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.026;DP=195;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-0.185;SOR=0.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,13:28:99:0|1:165698533_G_C:318,0,538:165698533	5	0	1	0
chr1	165698558	165698558	T	G	exonic	ALDH9A1	.	startloss	ALDH9A1:NM_000696:exon1:c.A1C:p.M1?	.	308	1177	36	1	0	38	0.0158863	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	.	0.0061	0.00199681	0.0101	0.0021	0.0111	0	0.0132	0.0140	0.0204	0.0032	0.0065394	1011	154602	rs201507277	0.0081	0.0081	0.0081	0.0082	0.0328	0.0080	0.0080	0.0289	0.0274	0.0024	0.0085	0.0079	2.576e-05	0.0083	0.0328	0.0088	0.0091	0.0032	0.0067	0.0067	0.0071	0.0063	0.0096	0.0063	0.0062	0.0090	0.0088	0.0020	0	0.0089	0.0058	0	0.0069	0.0408	0.0096	0.0100	0.0025	0.04	0.42199	D	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.073572	0.21338	N	0.438187	0.994799	0.42419	D	.	.	.	-0.79	0.73739	T	-0.1	0.08495	N	0.749	0.74826	-0.9202	0.45527	T	0.134	0.44778	T	8	0.00894779	0.00203	T	0.07247	0.71540	D	0.239	0.54358	0.601	0.73226	0.608395523695	0.60525	0.777426192557125	0.77692	.	.	.	.	.	0.005256	0.04698	T	-0.32339	0.06624	T	-0.229342	0.51836	T	0.0119583580450525	0.00188	T	0.9	0.65058	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.026694	0.25760	16.88	0.7724722978309273	0.11797	0.19186	0.20562	N	ALL	0.015078	0.00270	N	-0.504319330862802	0.21940	1.168028	-0.484691908089164	0.22575	1.226818	0.999999999990933	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.241949	0.04745	2	.	.	4.33	3.1	0.34780	1.411000	0.34311	1.022000	0.23413	0.665000	0.62972	0.695000	0.28578	0.794000	0.26889	0.004000	0.06068	0.0:0.0:0.2287:0.7713	7.175	0.24915	887	0.27948	.	ALDH9A1|TMCO1	Muscle_Skeletal|Muscle_Skeletal	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.026316	0.036458	0.036685	0.020468	0.100000	0.051724	0.024691	0.015152	0.08333	311.83	39	chr1	165698558	.	T	G	311.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.22;DP=167;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=-0.889;SOR=0.458	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,12:21:99:1|0:165698533_G_C:322,0,342:165698533	5	0	1	0
chr1	169424912	169424912	C	G	exonic	CCDC181	.	nonsynonymous SNV	CCDC181:NM_001300969:exon2:c.G16C:p.D6H,CCDC181:NM_021179:exon2:c.G16C:p.D6H,CCDC181:NM_001300968:exon3:c.G16C:p.D6H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00897877879641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.035	0.61642	D	0.997	0.70673	D	0.847	0.60522	P	0.064547	0.21945	N	0.519243	0.991826	0.23977	N	2.52	0.73523	M	1.8	0.25509	T	-2.68	0.67589	D	0.275	0.31365	-1.0457	0.15621	T	0.065	0.26702	T	9	0.129138	0.24569	T	0.008979	0.23655	T	0.063	0.18251	0.232	0.16005	0.193865811164	0.18958	0.046943735106109816	0.04637	0.483977636689	0.47326	0.38334774971	0.22730	T	0.046019	0.27299	T	-0.181193	0.23558	T	-0.498047	0.22551	T	0.947415769100189	0.62676	D	0.760024	0.38453	T	0.15265502	0.34642	0.16654947	0.38470	0.15265502	0.34641	0.16654947	0.38469	-5.334	0.41643	T	.	.	0.162	0.36275	B	.;.;.;.;.	.;.;.;.;.	2.832872	0.37348	20.5	0.99080988335265174	0.51954	0.81079	0.40560	D	AEFGBI	0.147733	0.27147	N	0.107841026101534	0.46828	2.917311	-0.00602051471754278	0.39442	2.338696	4.79960069306208E-4	0.07095	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.586402	0.36253	0	.	.	5.66	3.78	0.42629	0.889000	0.27917	1.831000	0.29115	0.599000	0.40250	0.691000	0.28541	0.959000	0.29258	0.887000	0.42601	0.1366:0.7208:0.0:0.1426	7.542	0.26915	544	0.72685	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	936.83	35	chr1	169424912	.	C	G	936.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.032;DP=227;ExcessHet=0;FS=4.072;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.35;ReadPosRankSum=0.852;SOR=1.339	GT:AD:DP:GQ:PL	0/1:19,35:54:99:947,0,501	5	0	1	0
chr1	184796035	184796035	T	C	exonic	NIBAN1	.	nonsynonymous SNV	NIBAN1:NM_052966:exon14:c.A1729G:p.S577G	.	433	1077	12	0	0	12	0.00554017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00639504073135	0.0006	0.00119808	0.0009	0.0001	8.737e-05	0.0001	0	0.0007	0	0.0038	0.0007956	123	154602	rs147077078	0.0007	0.0007	0.0006	0.0008	0.0044	0.0007	0.0007	0.0032	0.0031	0.0001	0.0002	0.0011	2.527e-05	0	0.0044	0.0006	0.0006	0.0035	0.0006	0.0006	0.0005	0.0007	0.0048	0.0005	0.0004	0.0033	0.0028	0.0001	0	0.0008	0.0009	0	0	0	0.0006	0.0009	0.0048	0.068	0.35726	T	0.405	0.14771	T	0.976	0.58310	D	0.722	0.54942	P	0.002063	0.37317	N	0.341183	0.965931	0.25916	N	2.455	0.71248	M	2.81	0.10975	T	-1.57	0.37955	N	0.115	0.10340	-1.0710	0.09194	T	0.034	0.14683	T	10	0.008102179	0.00184	T	0.006395	0.16812	T	0.038	0.09825	.	.	0.510346895759	0.50673	0.14786637238149633	0.14708	0.293368524652	0.31762	0.368733018637	0.20650	T	0.186228	0.53945	T	-0.516746	0.00459	T	-0.515884	0.20713	T	0.104098024210432	0.12802	T	0.813219	0.46599	T	0.10479992	0.24775	0.100401625	0.24005	0.10479992	0.24775	0.100401625	0.24004	-5.582	0.42628	T	.	.	0.128	0.27161	B	.	.	3.535201	0.49623	22.8	0.99735428138570292	0.83119	0.73901	0.36147	D	AEFBI	0.265207	0.38238	N	0.392479718248568	0.61014	4.297012	0.433526379079357	0.63668	4.604964	0.81400020173335	0.24406	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.567892	0.33627	0	.	.	5.81	4.65	0.57626	3.588000	0.53712	3.540000	0.38999	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.301:0.0:0.0:0.699	8.241	0.30820	628	0.65206	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.005435	0.000000	0.000000	0.017241	0.000000	0.007576	0.08333	780.83	37	chr1	184796035	.	T	C	780.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.874;DP=239;ExcessHet=0;FS=1.032;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=-0.32;SOR=0.859	GT:AD:DP:GQ:PL	0/1:27,30:57:99:791,0,733	5	0	1	0
chr1	197435276	197435276	T	G	exonic	CRB1	.	nonsynonymous SNV	CRB1:NM_001193640:exon7:c.T3077G:p.L1026W,CRB1:NM_201253:exon9:c.T3413G:p.L1138W,CRB1:NM_001257965:exon12:c.T3341G:p.L1114W	Leber congenital amaurosis 8;Pigmented paravenous chorioretinal atrophy, Autosomal dominant;Retinitis pigmentosa-12, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.419	0.517599215434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.49117	D	0.041	0.62352	D	1.0	0.90584	D	0.992	0.92359	D	.	.	.	.	1	0.08975	N	2.27	0.64531	M	-1.97	0.88143	D	-2.71	0.57762	D	0.459	0.63628	0.123	0.84583	D	0.787	0.92779	D	9	0.50915086	0.61995	D	0.517599	0.95397	D	0.419	0.72855	0.5	0.59147	0.944388482369	0.94380	0.8007872652524053	0.80032	0.279544546936	0.30444	0.379131793976	0.22134	T	0.105088	0.90929	T	0.0509328	0.58464	T	-0.164615	0.57934	T	0.778885066509247	0.44981	D	0.836316	0.50742	T	0.09019787	0.21098	0.20502318	0.44653	0.09019787	0.21098	0.20502318	0.44652	-7.217	0.55603	T	0.6143121032701855	0.68215	0.135	0.29339	B	.;.;.;.;.	.;.;.;.;.	2.624096	0.34107	19.53	0.92420503655477004	0.21837	0.17882	0.20027	N	AEFI	0.399583	0.47481	N	0.221007715174156	0.52217	3.397361	0.0699265713088041	0.43045	2.61448	0.0719873453249951	0.15586	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.7	4.56	0.55644	1.802000	0.38490	-1.275000	0.05842	0.665000	0.62972	0.108000	0.22953	0.000000	0.08366	0.049000	0.15107	0.0:0.1333:0.0:0.8667	10.079	0.41552	353	0.85335	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	10889.8	34	chr1	197435276	.	T	G	10889.8	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.92;DP=795;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.79;ReadPosRankSum=-0.704;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:324,288:612:99:0|1:197435271_C_T:10900,0,12566:197435271	5	0	1	0
chr1	201209798	201209798	-	GCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA	exonic	IGFN1	.	nonframeshift insertion	IGFN1:NM_001164586:exon12:c.4905_4906insGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA:p.G1647_I1648insMGSGSKASFRDGLGGSGEMGSVNEAGYRKDLGAPKG	.	682	662	104	2	72	180	0.075419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0	0	0	0	0.0021	0	0	.	.	.	.	0.0018	0.0016	0.0018	0.0018	0.0119	0.0017	0.0016	0.0084	0.0073	0.0119	0.0021	0.0016	0.0109	0.0043	0	0.0013	0.0023	0.0021	0.0006	0.0094	0.0010	0.0002	0.0037	0.0003	0.0002	0.0001	7.467e-05	0.0004	0	0.0007	0	0.0037	0.0015	0	0.0005	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3178.75	244	chr1	201209798	.	G	GGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA	3178.75	.	AC=1;AF=0.25;AN=4;BaseQRankSum=1.09;DP=1280;ExcessHet=1.7609;FS=5.4;MLEAC=2;MLEAF=0.5;MQ=54.71;MQRankSum=-7.711;QD=10;ReadPosRankSum=-4.418;SOR=0.962	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,40:123:99:0|1:201209798_G_GGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA:716,0,3222:201209798	1	0	1	4
chr1	201209836	201209836	-	GGGTTC	exonic	IGFN1	.	nonframeshift insertion	IGFN1:NM_001164586:exon12:c.4943_4944insGGGTTC:p.I1648delinsMGS	.	422	1070	28	0	2	30	0.0129151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0003	0	0	3.84e-05	1	26028	rs764283275	9.788e-06	0.0002	1.337e-05	6.108e-06	5.809e-05	5.46e-06	4.21e-06	9.62e-06	3.6e-06	0	0	0	5.809e-05	0	0	9.653e-06	1.805e-05	0	6.799e-06	0.0002	1.327e-05	0	.	0	0	.	.	0	0	0	0	0	9.775e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	901.79	272	chr1	201209836	.	T	TGGGTTC	901.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.07;DP=1386;ExcessHet=0;FS=0.511;MLEAC=1;MLEAF=0.083;MQ=53.05;MQRankSum=-10.08;QD=3.38;ReadPosRankSum=-5.76;SOR=0.645	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:199,68:267:99:1|0:201209798_G_GGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA:912,0,5798:201209798	5	0	1	0
chr1	201209837	201209837	-	GGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATG	exonic	IGFN1	.	nonframeshift insertion	IGFN1:NM_001164586:exon12:c.4944_4945insGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATG:p.S1650_G1651insKASFRDGLGGSGEMGSVNEAGYRKDLGAPKGMGS	.	516	555	409	0	42	451	0.269256	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0.0008	0	0	.	.	.	.	1.544e-05	0.0005	2.273e-05	7.867e-06	0.0002	7.64e-06	4.8e-06	6.16e-06	3.39e-06	0	0	0	0.0002	0	0	1.436e-05	5.053e-05	0	5.356e-05	0.0009	5.097e-05	5.641e-05	5.625e-05	8.87e-06	3.32e-06	.	.	0	0	0	0	0	0.0004	0	5.625e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3093.94	276	chr1	201209837	.	A	AGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATG	3093.94	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-0.607;DP=1511;ExcessHet=0.6695;FS=2.646;MLEAC=2;MLEAF=0.5;MQ=52.42;MQRankSum=-8.28;QD=6.14;ReadPosRankSum=-0.916;SOR=0.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:199,68:267:99:1|0:201209798_G_GGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA:913,0,5797:201209798	1	0	1	4
chr1	202746142	202746142	C	T	exonic	KDM5B	.	nonsynonymous SNV	KDM5B:NM_001347591:exon14:c.G2063A:p.R688Q,KDM5B:NM_006618:exon15:c.G2198A:p.R733Q,KDM5B:NM_001314042:exon16:c.G2306A:p.R769Q	.	429	1062	29	2	0	33	0.015299	0.9976	0.922	YES	706998	not_provided|KDM5B-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.295	.	0.0008	0.00638978	0.0049	0.0002	0.0008	0	0.0091	0.0022	0.0056	0.0232	0.0043078	666	154602	rs144390145	0.0027	0.0027	0.0020	0.0033	0.0215	0.0026	0.0026	0.0206	0.0203	0.0002	0.0005	0.0079	5.048e-05	0.0084	0.0067	0.0010	0.0032	0.0215	0.0023	0.0023	0.0017	0.0030	0.0202	0.0021	0.0021	0.0169	0.0157	0.0001	0	0.0003	0.0063	0	0.0112	0	0.0015	0.0024	0.0202	0.037	0.43708	D	0.096	0.39340	T	0.128	0.27003	B	0.126	0.32692	B	0.000550	0.43413	N	0.267390	0.988208	0.40722	D	1.21	0.30464	L	-2.49	0.89145	D	-2.51	0.55181	D	0.088	0.07949	-0.2129	0.77338	T	0.527	0.82399	D	9	0.009380996	0.00212	T	.	.	.	0.295	0.61502	.	.	0.531679877283	0.52817	0.6327165268635838	0.63205	0.260510344994	0.28615	0.282812356949	0.07887	T	0.666658	0.90059	D	-0.333589	0.05844	T	-0.235698	0.51217	T	0.0268356139302734	0.01521	T	0.932307	0.75281	D	0.36550337	0.58251	0.24510102	0.49990	0.36327216	0.58084	0.28385857	0.54380	-7.829	0.59961	D	.	.	0.075	0.13221	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.738439	0.76397	26.5	0.99913855060512347	0.98238	0.95538	0.65120	D	AEFBI	0.611386	0.59985	D	-0.0328743581839105	0.40371	2.396308	0.139999071701741	0.46615	2.90461	0.999564826310346	0.40425	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.73	4.83	0.61880	4.600000	0.60792	4.857000	0.45432	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.0:0.9299:0.0:0.0701	14.526	0.67474	451	0.79296	Zinc finger, C5HC2-type;.;.;.;.;.;.;.;Zinc finger, C5HC2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.009567	0.000000	0.006793	0.008772	0.000000	0.008621	0.015244	0.015152	0.08333	684.83	72	chr1	202746142	.	C	T	684.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.473;DP=374;ExcessHet=0;FS=1.153;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=0.341;SOR=0.446	GT:AD:DP:GQ:PL	0/1:22,25:47:99:695,0,570	5	0	1	0
chr1	205920184	205920184	T	C	exonic	SLC26A9	.	nonsynonymous SNV	SLC26A9:NM_052934:exon18:c.A2102G:p.N701S,SLC26A9:NM_134325:exon18:c.A2102G:p.N701S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0255215360015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434	0.32929	T	0.021	0.58089	D	0.159	0.28304	B	0.092	0.30031	B	0.000006	0.62929	D	0.059155	0.968805	0.38685	D	1.665	0.42610	L	0.13	0.60973	T	-0.2	0.10136	N	0.729	0.73015	-0.7994	0.55179	T	0.193	0.54579	T	10	0.72675157	0.74025	D	0.025522	0.48485	D	0.132	0.35948	0.712	0.84781	0.498259528926	0.49460	0.3675581501898213	0.36669	0.424080628735	0.42844	0.548709869385	0.45676	T	0.145142	0.48211	T	-0.118912	0.33301	T	-0.408586	0.32387	T	0.871735513210297	0.52162	D	0.911209	0.68535	D	0.27715293	0.50774	0.18832958	0.42117	0.27715293	0.50774	0.18832958	0.42116	-4.049	0.24534	T	.	.	0.153	0.37671	B	.;.;.	.;.;.	4.544332	0.71454	25.7	0.99450785744793024	0.65274	0.90562	0.51841	D	ALL	0.675736	0.64102	D	0.24380032098247	0.53332	3.502637	0.352033827520654	0.58631	4.034693	0.999999982846247	0.74766	0.57788	0.32782	0	0.563428	0.19063	0	0.573078	0.19857	0	0.421255	0.06892	1	.	.	5.44	5.44	0.79348	5.739000	0.68261	7.877000	0.72286	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:0.0:1.0	13.744	0.62347	852	0.35056	.;STAS domain|STAS domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1316.83	35	chr1	205920184	.	T	C	1316.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.708;DP=312;ExcessHet=0;FS=4.252;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=-1.29;SOR=0.898	GT:AD:DP:GQ:PL	0/1:69,57:126:99:1327,0,1635	5	0	1	0
chr1	207049126	207049126	T	C	exonic	YOD1	.	nonsynonymous SNV	YOD1:NM_018566:exon2:c.A941G:p.N314S,YOD1:NM_001276320:exon4:c.A809G:p.N270S	.	429	1077	15	1	0	17	0.00783049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0018643667224	0.0004	0.00139776	0.0015	0.0002	0.0010	0	0.0002	0.0013	0.0033	0.0046	0.0014036	217	154602	rs139358134	0.0011	0.0011	0.0010	0.0013	0.0177	0.0011	0.0011	0.0149	0.0139	0.0007	0.0014	0.0017	2.519e-05	0.0005	0.0177	0.0007	0.0021	0.0050	0.0008	0.0008	0.0008	0.0008	0.0060	0.0007	0.0006	0.0043	0.0037	7.228e-05	0	0.0017	0.0009	0.0002	0.0005	0.0170	0.0007	0.0028	0.0060	0.411	0.15201	T	0.542	0.10354	T	0.307	0.32716	B	0.038	0.23361	B	0.000000	0.84330	D	0.084376	0.999995	0.58761	D	0.42	0.12520	N	.	.	.	-0.86	0.25551	N	0.309	0.41853	-1.0213	0.23292	T	0.084	0.32872	T	9	0.008237213	0.00187	T	0.001864	0.03245	T	0.056	0.15993	.	.	0.412688821616	0.40882	0.492423865390011	0.49163	0.345618355853	0.36468	0.64618241787	0.59443	T	0.022014	0.17048	T	-0.539139	0.00339	T	-0.546808	0.17633	T	0.0471615899580296	0.04994	T	0.948005	0.81304	D	0.17115128	0.37732	0.12882589	0.30987	0.17115128	0.37732	0.12882589	0.30986	-7.794	0.59658	D	.	.	0.080	0.07985	B	.;.	.;.	2.821128	0.37167	20.4	0.97042401011670798	0.32117	0.90429	0.51598	D	AEFBCI	0.383758	0.46514	N	-0.102840344568864	0.37268	2.165864	0.147929576135634	0.47032	2.93967	0.999999898758274	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.698795	0.65105	0	0.662433	0.64102	0	.	.	6.17	6.17	0.99707	4.854000	0.62617	6.145000	0.54110	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.003	0.80122	744	0.52588	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015106	0.000000	0.023098	0.032164	0.000000	0.008621	0.003049	0.007576	0.08333	987.83	41	chr1	207049126	.	T	C	987.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.06;DP=279;ExcessHet=0;FS=0.846;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=1.58;SOR=0.542	GT:AD:DP:GQ:PL	0/1:57,37:94:99:998,0,1596	5	0	1	0
chr1	208217558	208217558	G	T	exonic	PLXNA2	.	nonsynonymous SNV	PLXNA2:NM_025179:exon2:c.C365A:p.S122Y	.	426	1067	27	2	0	31	0.0143187	.	.	.	696429	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.334	0.00737051131181	0.0062	0.00299521	0.0060	0.0018	0.0030	0	0.0021	0.0093	0.0066	0.0021	0.0060737	939	154602	rs142871447	0.0077	0.0077	0.0077	0.0077	0.0125	0.0076	0.0075	0.0102	0.0093	0.0012	0.0058	0.0142	2.519e-05	0.0048	0.0125	0.0087	0.0073	0.0021	0.0061	0.0061	0.0062	0.0059	0.0095	0.0057	0.0056	0.0088	0.0086	0.0014	0.0077	0.0058	0.0158	0.0004	0.0036	0.0170	0.0095	0.0095	0.0012	0.008	0.58626	D	0.014	0.62352	D	0.952	0.54136	P	0.767	0.56720	P	0.000094	0.51296	D	0.135562	1	0.81001	D	0.73	0.18813	N	2.73	0.11839	T	-2.41	0.52938	N	0.52	0.55019	-1.1622	0.00705	T	0.045	0.19152	T	10	0.008282691	0.00188	T	0.007371	0.19550	T	0.334	0.65620	.	.	0.102598925029	0.09809	0.5853683915594246	0.58465	0.995737323308	0.74226	0.763034939766	0.76383	T	0.260073	0.63141	T	-0.394889	0.02500	T	-0.332045	0.41242	T	0.0452595234057308	0.04650	T	0.958704	0.84427	D	0.18998721	0.40565	0.23046508	0.48150	0.1957096	0.41371	0.23046508	0.48149	-6.21	0.48004	T	0.17918725729765989	0.23002	0.146	0.32178	B	.	.	4.579227	0.72322	25.8	0.99346056782240144	0.60371	0.99328	0.94563	D	AEFDBI	0.912353	0.87287	D	0.688757023873595	0.78896	6.964743	0.74609764330399	0.85866	8.709884	1.0	0.98316	0.722319	0.85440	0	0.59043	0.45803	0	0.602189	0.34648	0	0.735409	0.98432	0	.	.	5.71	5.71	0.89031	9.638000	0.97833	11.916000	0.99706	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.85	0.96733	796	0.45353	Sema domain|Sema domain|Sema domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010574	0.010101	0.013587	0.000000	0.000000	0.008621	0.018293	0.011364	0.1667	3142.06	54	chr1	208217558	.	G	T	3142.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.19;DP=454;ExcessHet=0.4139;FS=0.466;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=-0.316;SOR=0.749	GT:AD:DP:GQ:PL	0/1:64,71:135:99:1765,0,1931	4	0	2	0
chr1	212100360	212100360	A	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.A557G:p.D186G,DTL:NM_001286230:exon13:c.A1244G:p.D415G,DTL:NM_016448:exon14:c.A1370G:p.D457G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.0705558454721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.851e-05	0.0028	0.0001	7.4e-05	0.0004	7.568e-05	7.088e-05	8.625e-05	8.04e-05	0.0002	0	7.808e-05	0	0	0.0004	0.0001	8.675e-05	2.365e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.106	0.39340	T	1.0	0.90584	D	0.998	0.88582	D	0.000003	0.62929	D	0.058592	0.999257	0.46462	D	2.25	0.63811	M	-0.7	0.72785	T	-1.67	0.40468	N	0.749	0.74826	-0.3539	0.73441	T	0.438	0.77695	T	10	0.75805414	0.76133	D	0.070556	0.71033	D	0.526	0.79947	0.319	0.29741	0.808314291208	0.80651	0.3264893862643791	0.32561	0.86120817891	0.68970	0.44428807497	0.31164	T	0.329649	0.69993	T	0.19523	0.73447	D	0.0426576	0.73102	D	0.955969452857971	0.64639	D	0.89741	0.64114	D	0.3560679	0.57536	0.23249285	0.48411	0.3560679	0.57536	0.23249285	0.48410	-2.972	0.09882	T	.	.	0.269	0.50334	B	.;.	.;.	4.309799	0.65871	24.9	0.99831915659102677	0.91370	0.96274	0.68342	D	AEFGBI	0.726655	0.67525	D	0.474501222025507	0.65606	4.843659	0.455932996682415	0.65097	4.781064	0.999162801006358	0.38622	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	4.24	0.49486	5.910000	0.69668	9.238000	0.79403	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8598:0.1402:0.0:0.0	12.458	0.55050	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	173.87	91	chr1	212100360	.	A	G	173.87	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.325;DP=527;ExcessHet=3.1439;FS=175.263;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.5;ReadPosRankSum=1.86;SOR=8.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,14:97:13:0|1:212100360_A_G:13,0,2965:212100360	2	0	4	0
chr1	212100361	212100361	C	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.C558G:p.D186E,DTL:NM_001286230:exon13:c.C1245G:p.D415E,DTL:NM_016448:exon14:c.C1371G:p.D457E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.0329555447533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.37e-05	0.0014	5.667e-05	3.064e-05	5.487e-05	3.491e-05	3.173e-05	4.337e-05	3.902e-05	3.026e-05	0	3.843e-05	0	0	0	5.487e-05	1.673e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.171	0.31936	T	1.0	0.90584	D	0.996	0.84481	D	0.000003	0.62929	D	0.058592	0.989147	0.40895	D	2.25	0.63811	M	-0.6	0.71662	T	-0.8	0.22294	N	0.349	0.39052	-0.3807	0.72629	T	0.393	0.74685	T	10	0.3230481	0.49647	T	0.032956	0.54641	D	0.311	0.63269	0.299	0.26522	0.740948349148	0.73862	0.17433452095652613	0.17352	0.336806597811	0.35678	0.457547277212	0.32974	T	0.149432	0.48844	T	0.025508	0.55121	T	-0.201136	0.54540	T	0.753782212734222	0.43497	D	0.759324	0.38363	T	0.3453272	0.56701	0.20157085	0.44143	0.3453272	0.56701	0.20157085	0.44142	-3.559	0.17267	T	.	.	0.298	0.52841	B	.;.	.;.	3.620151	0.51223	23.1	0.99649687588057234	0.77192	0.89840	0.50569	D	AEFGBI	0.335728	0.43407	N	0.202993589347586	0.51343	3.316385	0.188628048828177	0.49223	3.128123	0.997589750058845	0.35786	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	3.55	0.39770	1.268000	0.32665	1.684000	0.28029	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8588:0.0:0.1412	11.901	0.51966	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	363.17	83	chr1	212100361	.	C	G	363.17	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-3.042;DP=504;ExcessHet=3.1439;FS=183.176;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=1.97;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,14:97:13:0|1:212100360_A_G:13,0,2965:212100360	0	0	4	2
chr1	212100362	212100362	C	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.C559G:p.L187V,DTL:NM_001286230:exon13:c.C1246G:p.L416V,DTL:NM_016448:exon14:c.C1372G:p.L458V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.0545165954567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.847e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.438	0.13595	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.25	0.63811	M	-0.81	0.73949	T	-0.71	0.20358	N	0.513	0.54409	-0.1746	0.78316	T	0.536	0.82849	D	10	0.37823913	0.53996	T	0.054517	0.65885	D	0.250	0.55888	0.198	0.11110	0.766922051636	0.76479	0.22416353566131936	0.22331	1.04972523653	0.76107	0.472474902868	0.35021	T	0.11718	0.43707	T	0.00178878	0.51901	T	-0.235207	0.51265	T	0.933079659938812	0.59956	D	0.891311	0.62583	D	0.38030902	0.59339	0.26082087	0.51851	0.38030902	0.59339	0.26082087	0.51850	-4.02	0.24102	T	.	.	0.169	0.37235	B	.;.	.;.	4.139380	0.62006	24.4	0.99826959884761401	0.90939	0.96985	0.72028	D	AEFGBI	0.698434	0.65611	D	0.646827706149991	0.76162	6.436104	0.648942237263915	0.78531	6.895201	0.9999999853233	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	5.41	0.78313	5.006000	0.63731	5.980000	0.52153	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.553	0.95324	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	355.89	85	chr1	212100362	.	C	G	355.89	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-4.123;DP=516;ExcessHet=3.1439;FS=183.176;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.03;ReadPosRankSum=2.19;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,14:97:13:0|1:212100360_A_G:13,0,2965:212100360	2	0	4	0
chr1	212972891	212972891	A	T	exonic	VASH2	.	nonsynonymous SNV	VASH2:NM_024749:exon4:c.A677T:p.N226I,VASH2:NM_001136475:exon5:c.A497T:p.N166I,VASH2:NM_001301056:exon6:c.A809T:p.N270I,VASH2:NM_001136474:exon7:c.A614T:p.N205I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.0131600743902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.72154	D	0.024	0.83351	D	0.997	0.90584	D	0.931	0.92359	D	0.000000	0.84330	D	0.000000	0.999976	0.53665	D	2.395	0.69210	M	.	.	.	-4.45	0.77717	D	0.851	0.90590	-0.4608	0.70041	T	0.322	0.69073	T	9	0.80277735	0.79656	D	0.01316	0.32344	T	0.377	0.69527	0.402	0.43245	0.363336886782	0.35939	0.6653178259733994	0.66468	1.17859640205	0.79955	0.747769594193	0.74116	T	0.520558	0.83226	D	0.258314	0.79373	D	0.133274	0.79106	D	0.995575785636902	0.87675	D	0.880812	0.59928	D	0.7194129	0.79129	0.40914172	0.65212	0.7194129	0.79130	0.40914172	0.65212	-11.881	0.87355	D	.	.	0.421	0.62494	A	.;.;.;.;.	.;.;.;.;.	4.742491	0.76494	26.5	0.99363182611930501	0.61113	0.95366	0.64440	D	AEFBHCI	0.927571	0.91043	D	0.656015659381165	0.76759	6.546055	0.626009285785164	0.76836	6.564706	0.99999977117973	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.620846	0.47308	0	.	.	5.37	4.24	0.49486	9.129000	0.93724	9.319000	0.80028	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.9291:0.0:0.0709:0.0	11.392	0.49058	792	0.45996	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1039.83	34	chr1	212972891	.	A	T	1039.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.6;DP=259;ExcessHet=0;FS=0.843;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=1.01;SOR=0.885	GT:AD:DP:GQ:PL	0/1:40,42:82:99:1050,0,1046	5	0	1	0
chr1	228274199	228274199	G	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon19:c.G5438A:p.R1813Q,OBSCN:NM_052843:exon19:c.G5438A:p.R1813Q,OBSCN:NM_001271223:exon23:c.G6563A:p.R2188Q	.	0	1502	19	1	0	21	0.00694215	.	.	.	2388335	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.078	0.064508663187	7.8e-05	0.000399361	0.0005	0	0.0005	0	0	0.0003	0	0.0022	0.0004722	73	154602	rs201775103	0.0003	0.0003	0.0002	0.0003	0.0028	0.0002	0.0002	0.0021	0.0020	2.99e-05	0.0004	0.0007	0	0	0.0028	0.0001	0.0005	0.0023	0.0002	0.0002	0.0002	0.0002	0.0014	0.0001	0.0001	0.0007	0.0005	2.405e-05	0	0.0001	0.0009	0	0	0.0034	0.0002	0.0009	0.0014	0.233	0.19639	T	0.25	0.28669	T	0.985	0.61118	D	0.405	0.44649	B	0.953482	0.08271	N	0.975502	1	0.08975	N	0.95	0.23787	L	-0.09	0.64086	T	-0.98	0.25986	N	0.157	0.16308	-0.9704	0.37115	T	0.125	0.42883	T	10	0.006353706	0.00143	T	0.064509	0.69300	D	0.078	0.22779	.	.	0.544128928594	0.54067	0.5569867715167525	0.55625	0.149307884708	0.16836	0.308165788651	0.11630	T	0.036894	0.24276	T	-0.533139	0.00368	T	-0.544141	0.17893	T	0.00772480962572594	0.00090	T	0.741226	0.36032	T	0.03028966	0.02666	0.039209414	0.03962	0.028013578	0.02075	0.045015827	0.05964	-6.069	0.46853	T	.	.	0.075	0.05447	B	.;.;.;.;.	.;.;.;.;.	1.465564	0.18885	13.98	0.97054960078936692	0.32167	0.02036	0.06099	N	AEFDBI	0.049309	0.08506	N	-0.811334921902654	0.13020	0.6385616	-0.894668923838448	0.12220	0.6273003	0.990011348564989	0.32009	0.653496	0.48692	0	0.59043	0.45803	0	0.596874	0.31795	0	0.491896	0.07777	0	.	.	5.25	-1.12	0.09306	0.161000	0.16298	-0.541000	0.08582	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.7089:0.0:0.2911:0.0	10.591	0.44501	442	0.79946	.;Immunoglobulin I-set;.;.;Immunoglobulin I-set	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.08333	552.83	34	chr1	228274199	.	G	A	552.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.44;DP=234;ExcessHet=0;FS=2.348;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=0.275;SOR=1.051	GT:AD:DP:GQ:PL	0/1:33,20:53:99:563,0,829	5	0	1	0
chr1	236555630	236555630	G	A	exonic	HEATR1	.	nonsynonymous SNV	HEATR1:NM_018072:exon40:c.C5675T:p.T1892M	.	428	1092	2	0	0	2	0.000914913	.	.	.	2440559	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.149	0.0332676220568	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201518919	2.463e-05	2.463e-05	1.497e-05	3.438e-05	0.0002	1.803e-05	1.6e-05	2.003e-05	1.582e-05	0	0	0	7.557e-05	0	0.0002	2.608e-05	1.656e-05	2.319e-05	6.57e-06	6.567e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.058	0.44029	T	0.065	0.44905	T	0.996	0.70673	D	0.797	0.63913	P	0.001912	0.37691	N	0.260789	1	0.08975	N	1.61	0.41143	L	0.98	0.42122	T	-0.66	0.19085	N	0.552	0.59393	-1.0281	0.21070	T	0.124	0.42673	T	10	0.6321561	0.68578	D	0.033268	0.54861	D	0.149	0.39377	.	.	0.409859612472	0.40601	0.26321655064616034	0.26234	0.342588193783	0.36191	0.398724973202	0.24891	T	0.003214	0.02616	T	-0.159094	0.26899	T	-0.402658	0.33076	T	0.357315093278885	0.27304	T	0.891311	0.62583	D	0.034757126	0.03961	0.06849881	0.14314	0.034757126	0.03961	0.06849881	0.14313	-3.679	0.19008	T	.	.	0.078	0.07793	B	.;.	.;.	3.303182	0.45351	22.1	0.99734909091172796	0.83047	0.59734	0.30997	D	AEFBI	0.088811	0.18004	N	0.00145238358182442	0.41920	2.516297	-0.0898774165156058	0.35808	2.076062	0.0142930227252492	0.12578	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.81	3.78	0.42629	2.070000	0.41116	4.034000	0.41364	0.618000	0.50648	0.969000	0.34210	0.999000	0.35428	0.525000	0.29590	0.2398:0.0:0.6088:0.1514	5.083	0.14004	934	0.15400	BP28, C-terminal domain|BP28, C-terminal domain;BP28, C-terminal domain|BP28, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	3047.04	56	chr1	236555630	.	G	A	3047.04	.	AC=2;AF=0.167;AN=12;DP=325;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=29.87;SOR=1	GT:AD:DP:GQ:PL	1/1:0,102:102:99:3067,306,0	5	1	0	0
chr1	248473897	248473897	T	C	exonic	OR2T3	.	nonsynonymous SNV	OR2T3:NM_001005495:exon1:c.T547C:p.F183L	.	434	1075	12	1	0	14	0.0064695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000823009984237	0.0006	.	0.0013	0.0003	0.0004	0	0.0037	0.0017	0.0012	0.0006	0.0012679	33	26028	rs142810128	0.0029	0.0057	0.0029	0.0028	0.0037	0.0028	0.0028	0.0031	0.0031	0.0004	0.0011	0.0005	2.528e-05	0.0059	0.0037	0.0032	0.0023	0.0005	0.0019	0.0036	0.0020	0.0017	0.0029	0.0017	0.0016	0.0026	0.0025	0.0004	0.0011	0.0005	0.0009	0	0.0045	0.0035	0.0029	0.0025	0	0.001	0.78490	D	0.089	0.40426	T	0.999	0.77913	D	0.974	0.73157	D	.	.	.	.	0.998937	0.21783	N	2.615	0.76484	M	8.52	0.00202	T	-5.93	0.89029	D	0.29	0.32812	-0.8975	0.48244	T	0.002	0.00497	T	9	0.025983632	0.00777	T	8.23E-4	0.00670	T	0.064	0.18567	0.448	0.50793	0.451023696535	0.44722	0.042905737296640725	0.04235	.	.	0.280911803246	0.07620	T	0.006278	0.05717	T	-0.126297	0.32097	T	-0.419193	0.31167	T	0.0779457387985252	0.09721	T	.	.	.	0.42632964	0.62511	0.4925666	0.70648	0.42632964	0.62511	0.4925666	0.70648	-6.696	0.51780	T	.	.	0.851	0.79818	P	.	.	2.794078	0.36740	20.3	0.99605411732801985	0.74456	0.77980	0.38408	D	AEFI	0.074977	0.15045	N	0.0199303681782081	0.42762	2.582673	-0.200406707725327	0.31522	1.784745	0.774527410767422	0.23729	0.732398	0.92422	0	0.743671	0.97443	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.37	2.37	0.28337	1.405000	0.34243	-5.200000	0.01809	0.472000	0.21952	0.605000	0.27788	0.000000	0.08366	0.005000	0.06747	0.0:0.0:0.0:1.0	9.311	0.37065	982	0.03397	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	0.001171	0.000000	0.001374	0.004386	0.000000	0.000000	0.000000	0.000000	0.08333	77.83	33	chr1	248473897	.	T	C	77.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.09;DP=308;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=27;MQRankSum=0;QD=5.99;ReadPosRankSum=-0.518;SOR=1.329	GT:AD:DP:GQ:PL	0/1:9,4:13:88:88,0,233	5	0	1	0
chr1	248574211	248574211	A	G	exonic	OR2T34	.	nonsynonymous SNV	OR2T34:NM_001001821:exon1:c.T547C:p.F183L	.	419	1074	29	0	0	29	0.0133211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	.	0.0029	0.00219649	0.0056	0.0009	0.0022	0	0.0162	0.0078	0.0022	0.0010	0.0004592	71	154602	rs148006635	0.0056	0.0064	0.0056	0.0057	0.0075	0.0055	0.0055	0.0061	0.0060	0.0007	0.0021	0.0009	2.519e-05	0.0151	0.0075	0.0062	0.0047	0.0009	0.0050	0.0055	0.0048	0.0051	0.0076	0.0047	0.0046	0.0070	0.0068	0.0010	0.0022	0.0018	0.0012	0	0.0126	0.0068	0.0076	0.0053	0.0006	0.001	0.78490	D	0.094	0.39645	T	0.995	0.67487	D	0.956	0.69739	D	.	.	.	.	0.999639	0.20820	N	2.315	0.66250	M	8.52	0.00202	T	-5.93	0.89029	D	0.34	0.38129	-0.9201	0.45540	T	0.002	0.00526	T	9	0.014186472	0.00299	T	.	.	.	0.104	0.29647	0.47	0.54376	0.564560304341	0.56119	0.05930058072727752	0.05870	.	.	0.30463373661	0.11096	T	0.005492	0.04941	T	-0.533322	0.00367	T	-0.534151	0.18873	T	0.074082154476566	0.09213	T	0.778722	0.41238	T	0.521896	0.68368	0.5097713	0.71670	0.521896	0.68369	0.5097713	0.71670	-6.617	0.51183	T	.	.	0.754	0.75239	P	.	.	2.914086	0.38662	20.8	0.99351913127643576	0.60615	0.88468	0.48410	D	AEGI	0.086981	0.17636	N	0.0759686768260617	0.45343	2.79245	-0.15928088697545	0.33053	1.886712	1.57936258024448E-4	0.05650	0.615465	0.37627	0	0.633656	0.55848	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.37	2.37	0.28337	3.065000	0.49687	0.065000	0.14184	0.351000	0.19951	0.985000	0.35982	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	9.241	0.36656	982	0.03397	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	0.004745	0.000000	0.008242	0.008547	0.000000	0.008772	0.003788	0.000000	0.08333	1605.83	144	chr1	248574211	.	A	G	1605.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.71;DP=586;ExcessHet=0;FS=4.346;MLEAC=1;MLEAF=0.083;MQ=49.61;MQRankSum=2.86;QD=7.5;ReadPosRankSum=1.1;SOR=1.003	GT:AD:DP:GQ:PL	0/1:151,63:214:99:1616,0,4208	5	0	1	0
chr2	18563968	18563968	C	T	exonic	NT5C1B;NT5C1B-RDH14	.	nonsynonymous SNV	NT5C1B:NM_033253:exon9:c.G1481A:p.R494H,NT5C1B:NM_001002006:exon10:c.G1661A:p.R554H,NT5C1B:NM_001199086:exon10:c.G1610A:p.R537H,NT5C1B:NM_001199087:exon10:c.G1712A:p.R571H,NT5C1B:NM_001199088:exon10:c.G1667A:p.R556H,NT5C1B-RDH14:NM_001199104:exon10:c.G1661A:p.R554H	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.00652359372663	0.0008	0.000599042	0.0011	9.619e-05	8.639e-05	0	0	0.0017	0.0011	0.0010	0.0009832	152	154602	rs147855687	0.0009	0.0009	0.0009	0.0009	0.0017	0.0009	0.0009	0.0010	0.0009	0.0003	0.0003	0.0148	0	0.0001	0.0017	0.0006	0.0017	0.0012	0.0007	0.0007	0.0007	0.0008	0.0023	0.0006	0.0006	0.0013	0.0010	9.62e-05	0	6.533e-05	0.0150	0.0002	0	0.0034	0.0006	0.0009	0.0023	0.053	0.38863	T	0.166	0.30828	T	0.63	0.41398	P	0.074	0.36341	B	0.000019	0.62929	N	0.206930	0.557917	0.34043	D	0.58	0.15352	N	.	.	.	-0.67	0.22078	N	0.348	0.38950	-0.6139	0.64242	T	0.151	0.47962	T	9	0.0077632368	0.00176	T	0.006524	0.17186	T	0.117	0.32689	.	.	0.28058544554	0.27657	0.5612202216183593	0.58706	0.307625771685	0.41872	.	.	.	0.065347	0.32665	T	-0.319506	0.06939	T	-0.292323	0.45531	T	0.0241560414433479	0.01164	T	0.709329	0.31993	T	0.116739795	0.27531	0.11729164	0.28313	0.116739795	0.27531	0.11729164	0.28313	-3.366	0.19925	T	.	.	0.102	0.24498	B	.;.;.	.;.;.	3.970379	0.58292	24.0	0.99818088375588232	0.90150	0.92965	0.56985	D	AEFBI	0.479040	0.52135	N	0.083544611945943	0.45695	2.821827	0.234383112524604	0.51765	3.356302	0.997368072514315	0.35541	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	6.16	4.26	0.49832	3.301000	0.51549	2.807000	0.34886	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.7664:0.2336:0.0	18.697	0.91566	961	0.08552	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.08333	1344.83	41	chr2	18563968	.	C	T	1344.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.773;DP=299;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=0.976;SOR=0.693	GT:AD:DP:GQ:PL	0/1:58,54:112:99:1355,0,1384	5	0	1	0
chr2	20254908	20254908	T	C	exonic	PUM2	.	nonsynonymous SNV	PUM2:NM_001282790:exon17:c.A2588G:p.E863G,PUM2:NM_001282752:exon18:c.A2657G:p.E886G,PUM2:NM_001282791:exon18:c.A2420G:p.E807G,PUM2:NM_001352920:exon18:c.A2594G:p.E865G,PUM2:NM_001352923:exon18:c.A2594G:p.E865G,PUM2:NM_001352925:exon18:c.A2588G:p.E863G,PUM2:NM_001352926:exon18:c.A2588G:p.E863G,PUM2:NM_001352927:exon18:c.A2588G:p.E863G,PUM2:NM_001352928:exon18:c.A2588G:p.E863G,PUM2:NM_001352930:exon18:c.A2147G:p.E716G,PUM2:NM_001352917:exon19:c.A2831G:p.E944G,PUM2:NM_001352918:exon19:c.A2825G:p.E942G,PUM2:NM_001352919:exon19:c.A2825G:p.E942G,PUM2:NM_001352929:exon19:c.A2420G:p.E807G,PUM2:NM_015317:exon19:c.A2825G:p.E942G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.514	0.0404059704605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.43085	D	0.095	0.39492	T	0.591	0.39100	P	0.709	0.54472	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	2.54	0.13916	T	-3.05	0.65858	D	0.818	0.81957	-1.0347	0.18951	T	0.107	0.39051	T	10	0.7452064	0.75239	D	0.040406	0.59359	D	0.514	0.79217	.	.	0.215239754934	0.21150	0.44491656446952477	0.44409	0.539815738993	0.51197	0.783618211746	0.79474	T	0.068061	0.33362	T	0.203126	0.74185	D	0.0539998	0.73847	D	0.899078547954559	0.55130	D	0.964104	0.86689	D	.	.	.	.	.	.	.	.	-7.678	0.58855	D	.	.	0.265	0.59291	B	.;.;.;.;.	.;.;.;.;.	5.322278	0.89330	29.9	0.99805489034406247	0.88995	0.98917	0.88597	D	AEFBI	0.900530	0.84617	D	0.585204153437368	0.72251	5.776356	0.548407254109362	0.71285	5.631802	0.999999975018709	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	8.017000	0.88732	6.199000	0.54868	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.761000	0.36181	0.0:0.0:0.0:1.0	15.837	0.78582	762	0.50290	.;Pumilio homology domain|Pumilio, RNA binding domain;.;Pumilio homology domain|Pumilio, RNA 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	.	.	.	.	.	.	.	.	0.08333	744.83	33	chr2	20254908	.	T	C	744.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.41;DP=266;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.01;ReadPosRankSum=-0.029;SOR=0.691	GT:AD:DP:GQ:PL	0/1:62,31:93:99:755,0,1455	5	0	1	0
chr2	23864893	23864893	T	C	exonic	ATAD2B	.	nonsynonymous SNV	ATAD2B:NM_001242338:exon11:c.A1220G:p.H407R,ATAD2B:NM_017552:exon11:c.A1220G:p.H407R,ATAD2B:NM_001354107:exon12:c.A1262G:p.H421R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0116478170939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.077e-06	4.105e-06	4.129e-06	0	2.717e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.717e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.09048	T	0.527	0.10209	T	.	.	.	.	.	.	.	.	.	.	0.955574	0.37932	D	.	.	.	-3.53	0.94764	D	-1.58	0.38151	N	0.19	0.20793	-0.8923	0.48731	T	0.148	0.47344	T	9	0.17789313	0.32846	T	0.011648	0.29486	T	0.219	0.51417	0.331	0.31681	0.672754582956	0.66998	0.6648068104265349	0.66417	0.60285670828	0.55282	0.627035319805	0.56724	T	.	.	.	0.0664316	0.60411	T	-0.142352	0.59914	T	0.361597471305519	0.27471	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11845	B	.	.	3.381871	0.46779	22.4	0.96857722296242954	0.31369	0.92978	0.57018	D	AEFBI	0.378817	0.46207	N	0.214845505970457	0.51920	3.369515	0.360670962237465	0.59152	4.090821	0.916302595852516	0.26509	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	4.206000	0.58271	6.222000	0.55136	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.532	0.84210	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	140.5	30	chr2	23864893	.	T	C	140.5	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-1.338;DP=175;ExcessHet=1.7609;FS=115.489;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=1.33;ReadPosRankSum=0.798;SOR=7.378	GT:AD:DP:GQ:PL	0/1:24,14:38:58:58,0,238	2	0	3	1
chr2	26465829	26465829	C	T	exonic	OTOF	.	nonsynonymous SNV	OTOF:NM_194322:exon20:c.G2572A:p.E858K,OTOF:NM_004802:exon21:c.G2341A:p.E781K,OTOF:NM_194323:exon21:c.G2341A:p.E781K,OTOF:NM_001287489:exon38:c.G4642A:p.E1548K,OTOF:NM_194248:exon38:c.G4642A:p.E1548K	Auditory neuropathy, autosomal recessive, 1, Autosomal recessive;Deafness, autosomal recessive 9, Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	YES	496274	not_specified|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_9	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010986,MedGen:C1832828,OMIM:601071,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.481	0.0566737322848	0.0004	0.000599042	0.0004	0	0	0.0001	0	0.0002	0	0.0020	0.0003493	54	154602	rs146982209	0.0003	0.0003	0.0002	0.0003	0.0022	0.0002	0.0002	0.0020	0.0019	0	0.0001	0	2.519e-05	0	0.0009	0.0001	0.0003	0.0022	0.0002	0.0002	0.0001	0.0002	0.0023	0.0001	0.0001	0.0013	0.0010	0	0	0.0001	0	0	0	0	0.0002	0	0.0023	0.027	0.50132	D	0.13	0.51421	T	0.039	0.41609	B	0.059	0.45959	B	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	0.56	0.15190	N	-0.57	0.71307	T	-2.98	0.62008	D	0.877	0.87481	-0.6612	0.62223	T	0.273	0.64432	T	10	0.030760765	0.01205	T	0.056674	0.66690	D	0.481	0.77142	.	.	0.872198448125	0.87094	0.6559919712665714	0.65535	0.392072762019	0.40400	0.798641860485	0.81756	T	0.456549	0.79527	T	-0.0282259	0.47674	T	0.180203	0.82007	D	0.169349556982405	0.18536	T	0.986501	0.95398	D	0.56345254	0.70700	0.3863191	0.63527	0.56345254	0.70701	0.3863191	0.63527	-11.779	0.85474	D	0.7689188339790662	0.85007	0.376	0.61536	A	.;.;.;.;.;.	.;.;.;.;.;.	4.300261	0.65647	24.9	0.99750069166673672	0.84152	0.96994	0.72079	D	AEFDBI	0.781001	0.71272	D	-0.00839514124951066	0.41476	2.48143	0.121764245646468	0.45664	2.825592	0.999999989341186	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.18	4.3	0.50540	5.052000	0.64081	3.331000	0.37627	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.985000	0.61073	0.0:0.8595:0.1405:0.0	15.364	0.74218	417	0.81662	.;.;C2 domain|C2 domain|C2 domain|C2 domain|Ferlin, fifth C2 domain;C2 domain|C2 domain|C2 domain|Ferlin, fifth C2 domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.08333	1908.83	36	chr2	26465829	.	C	T	1908.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.32;DP=322;ExcessHet=0;FS=0.616;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-0.643;SOR=0.623	GT:AD:DP:GQ:PL	0/1:75,68:143:99:1919,0,1849	5	0	1	0
chr2	29071662	29071662	G	A	exonic	PCARE	.	nonsynonymous SNV	PCARE:NM_001029883:exon1:c.C2600T:p.P867L	.	0	1485	36	1	0	38	0.012633	.	.	.	177344	PCARE-related_disorder|not_provided|not_specified|Retinitis_pigmentosa_54|Retinitis_pigmentosa	.|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013263,MedGen:C3150691,OMIM:613428,Orphanet:791|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.029	0.0036451874102	0.0018	0.000998403	0.0015	0.0004	0.0017	0	0.0017	0.0021	0.0034	0.0005	0.0015071	233	154602	rs182248363	0.0022	0.0022	0.0021	0.0022	0.0215	0.0021	0.0021	0.0184	0.0173	0.0007	0.0031	0.0030	0	0.0021	0.0215	0.0022	0.0034	0.0009	0.0019	0.0019	0.0019	0.0019	0.0054	0.0017	0.0017	0.0044	0.0041	0.0005	0	0.0054	0.0032	0	0.0013	0.0272	0.0021	0.0033	0.0008	1.0	0.00964	T	0.425	0.13912	T	0.004	0.12183	B	0.001	0.04355	B	0.392844	0.13231	N	0.685825	1	0.08975	N	.	.	.	2.61	0.13095	T	3.05	0.00134	N	0.097	0.07811	-0.9297	0.44183	T	0.010	0.03492	T	10	0.003376186	0.00059	T	0.003645	0.08371	T	0.029	0.06676	.	.	0.0716867268079	0.06686	0.04218015526180348	0.04163	0.0132068873467	0.01271	.	.	.	0.005117	0.04559	T	-0.733535	0.00023	T	-0.83044	0.01254	T	0.00110661854475679	0.00011	T	0.493751	0.15260	T	0.015144684	0.00124	0.027302949	0.00874	0.015144684	0.00124	0.027302949	0.00874	-3.959	0.23188	T	.	.	0.064	0.01645	B	.	.	-0.137698	0.03423	0.624	0.33965375538205167	0.02052	0.01676	0.05356	N	AEFDBI	0.034659	0.04332	N	-1.40349762555176	0.02608	0.1153987	-1.34441941115392	0.03872	0.1815065	0.0925815948388823	0.16162	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.54	-0.756	0.10500	1.406000	0.34254	-1.083000	0.06383	-0.169000	0.11342	0.027000	0.20232	0.000000	0.08366	0.002000	0.04165	0.3388:0.0:0.1847:0.4764	4.835	0.12825	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	0.022659	0.020202	0.019022	0.043860	0.050000	0.043103	0.003049	0.007576	0.08333	3386.83	33	chr2	29071662	.	G	A	3386.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.88;DP=431;ExcessHet=0;FS=1.747;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.05;ReadPosRankSum=0.339;SOR=0.861	GT:AD:DP:GQ:PL	0/1:105,120:225:99:3397,0,2576	5	0	1	0
chr2	32599758	32599758	C	T	exonic	BIRC6	.	nonsynonymous SNV	BIRC6:NM_001378125:exon70:c.C13847T:p.A4616V,BIRC6:NM_016252:exon70:c.C13850T:p.A4617V	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	0.0323868066679	.	.	0.0001	9.61e-05	0	0	0	0.0002	0	0	0.0001035	16	154602	rs777498615	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	5.976e-05	4.472e-05	0.0007	0	0	0.0002	0.0001	0.0001	0	9.202e-05	9.194e-05	0.0001	5.382e-05	0.0002	5.529e-05	4.366e-05	9.048e-05	7.012e-05	4.828e-05	0	0	0.0003	0	0	0	0.0002	0	0	0.003	0.68238	D	0.012	0.63918	D	.	.	.	.	.	.	0.000025	0.55875	D	0.155676	1	0.81001	D	.	.	.	-0.65	0.72237	T	-3.38	0.66780	D	0.485	0.51940	-0.5640	0.66251	T	0.236	0.60331	T	10	0.23583663	0.40653	T	0.032387	0.54227	D	0.251	0.56024	.	.	0.430467906565	0.42668	0.610312857797296	0.60963	1.66732728898	0.89815	0.812585830688	0.83888	D	.	.	.	-0.140596	0.29794	T	-0.170433	0.57404	T	0.351965039968491	0.27096	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.49635	B	.	.	3.644497	0.51696	23.1	0.99752383173752324	0.84382	0.96355	0.68733	D	AEFBI	0.628799	0.61075	D	0.265223550641137	0.54397	3.605255	0.317602614708375	0.56575	3.820892	0.999924732283311	0.46280	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.54	4.64	0.57399	4.672000	0.61290	4.800000	0.44962	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.1387:0.8613:0.0:0.0	15.595	0.76314	193	0.92507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1064.83	37	chr2	32599758	.	C	T	1064.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.013;DP=276;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=0.007;SOR=0.675	GT:AD:DP:GQ:PL	0/1:50,45:95:99:1075,0,1199	5	0	1	0
chr2	38074704	38074704	C	T	exonic	CYP1B1	.	nonsynonymous SNV	CYP1B1:NM_000104:exon2:c.G685A:p.E229K	Anterior segment dysgenesis 6, multiple subtypes;Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, Autosomal recessive	0	1411	106	5	0	116	0.0394826	.	.	.	79359	not_provided|Irido-corneo-trabecular_dysgenesis|Congenital_glaucoma|Congenital_ocular_coloboma|not_specified|Glaucoma_3A	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708|MONDO:MONDO:0020366,MedGen:C0020302|Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194|MedGen:CN169374|MONDO:MONDO:0009277,MedGen:C1856439,OMIM:231300,Orphanet:98976,Orphanet:98977	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign|other	.	.	.	.	.	.	.	.	0.395	.	0.0037	0.0103834	0.0142	0.0017	0.0025	0	0.0040	0.0098	0.0214	0.0562	0.0107955	1669	154602	rs57865060	0.0085	0.0085	0.0070	0.0101	0.0518	0.0084	0.0083	0.0506	0.0501	0.0010	0.0021	0.0101	5.041e-05	0.0026	0.0206	0.0061	0.0088	0.0518	0.0062	0.0062	0.0055	0.0069	0.0503	0.0059	0.0057	0.0451	0.0431	0.0008	0	0.0034	0.0118	0.0004	0.0023	0.0102	0.0078	0.0076	0.0503	.	.	.	0.123	0.35582	T	.	.	.	.	.	.	0.000014	0.62929	D	0.111194	0.999619	0.47849	D	1.57	0.39626	L	.	.	.	.	.	.	0.697	0.70351	-0.8290	0.53365	T	0.124	0.42841	T	10	0.004917532	0.00105	T	.	.	.	.	.	.	.	.	.	0.5846823461645314	0.58398	.	.	0.597627282143	0.52569	T	0.457736	0.79599	T	-0.163042	0.26294	T	0.029531	0.72247	D	0.026333973035908	0.01451	T	0.933007	0.74900	D	0.62011653	0.73769	0.7128727	0.83058	0.72305995	0.79334	0.68006516	0.81203	-9.726	0.72255	D	.	.	0.244	0.53261	B	.;.	.;.	3.594627	0.50741	23.0	0.99863475441628191	0.94184	0.79813	0.39624	D	AEFDGBHCI	0.475083	0.51907	N	0.142951330129671	0.48478	3.059665	0.201290397305074	0.49920	3.189551	0.999999999999926	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.65	3.77	0.42499	2.673000	0.46524	3.320000	0.37537	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.9053:0.0:0.0947	10.465	0.43786	922	0.19044	.;.	EIF2AK2	Cells_Cultured_fibroblasts	.	.	rs57865060	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.018182	0.005102	0.008152	0.017544	0.050000	0.008621	0.024540	0.049242	0.08333	1829.83	33	chr2	38074704	.	C	T	1829.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.961;DP=333;ExcessHet=0;FS=5.14;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=0.41;SOR=0.765	GT:AD:DP:GQ:PL	0/1:64,73:137:99:1840,0,1615	5	0	1	0
chr2	38681325	38681325	C	T	exonic	GALM	.	nonsynonymous SNV	GALM:NM_138801:exon3:c.C391T:p.R131C	.	428	1090	4	0	0	4	0.0018315	.	.	.	1450545	not_provided|GALM-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.223	0.0258955724401	0.0004	.	0.0004	0.0002	0.0003	0	0.0002	0.0005	0	0.0008	0.0003493	54	154602	rs200877275	0.0003	0.0003	0.0003	0.0004	0.0036	0.0003	0.0003	0.0024	0.0020	2.988e-05	0.0002	0.0002	2.519e-05	0.0002	0.0036	0.0003	0.0005	0.0008	0.0003	0.0003	0.0004	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	7.241e-05	0	0.0003	0	0.0002	0	0.0032	0.0005	0.0005	0.0010	0.05	0.45756	D	0.065	0.53072	T	1.0	0.90584	D	0.962	0.70672	D	0.003732	0.34560	N	0.298970	0.999065	0.45987	D	1.49	0.37298	L	0.94	0.43672	T	-1.57	0.46673	N	0.752	0.75101	-0.8963	0.48360	T	0.149	0.47505	T	10	0.08643621	0.14693	T	0.025896	0.48845	D	0.223	0.52023	.	.	0.342631996419	0.33872	0.8434346854845833	0.84304	0.358253568036	0.37541	0.347916007042	0.17615	T	0.23816	0.68328	T	-0.299756	0.08683	T	-0.29251	0.45510	T	0.05937659740448	0.07069	T	0.977902	0.97771	D	0.2889596	0.51895	0.10089328	0.24138	0.2889596	0.51895	0.10089328	0.24138	-7.323	0.56359	T	0.27185696503402496	0.36560	0.160	0.35414	B	.;.	.;.	3.099048	0.41754	21.4	0.99843172501411603	0.92316	0.53493	0.29385	D	AEFBI	0.561957	0.56974	D	-0.0168874189822034	0.41093	2.451741	-0.151497127502845	0.33351	1.906842	0.949968743874746	0.27872	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.635551	0.53088	0	.	.	5.4	4.51	0.54589	1.810000	0.38570	2.271000	0.31831	0.599000	0.40250	0.395000	0.26129	0.977000	0.30130	0.003000	0.05239	0.2963:0.6296:0.0:0.074	7.652	0.27523	888	0.27761	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.000000	0.08333	1177.83	39	chr2	38681325	.	C	T	1177.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.68;DP=319;ExcessHet=0;FS=8.81;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=1.28;SOR=1.441	GT:AD:DP:GQ:PL	0/1:77,45:122:99:1188,0,2056	5	0	1	0
chr2	43574474	43574474	G	C	exonic	THADA	.	nonsynonymous SNV	THADA:NM_001083953:exon11:c.C1591G:p.L531V,THADA:NM_001271643:exon11:c.C1591G:p.L531V,THADA:NM_001271644:exon11:c.C1591G:p.L531V,THADA:NM_001345923:exon11:c.C1591G:p.L531V,THADA:NM_001345924:exon11:c.C1471G:p.L491V,THADA:NM_022065:exon11:c.C1591G:p.L531V,THADA:NM_001345925:exon12:c.C1591G:p.L531V	.	424	1090	7	1	0	9	0.00411147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.302	.	0.0002	0.00279553	0.0022	0	0.0002	0	0	0.0002	0.0012	0.0146	0.0017594	272	154602	rs201592210	0.0011	0.0011	0.0006	0.0015	0.0151	0.0010	0.0010	0.0145	0.0142	2.987e-05	0.0002	0	0	0	0.0009	0.0002	0.0011	0.0151	0.0006	0.0006	0.0005	0.0007	0.0143	0.0005	0.0004	0.0116	0.0106	4.813e-05	0	6.536e-05	0	0	0	0.0102	0.0002	0.0005	0.0143	0.008	0.91255	D	0.018	0.92824	D	0.999	0.90584	D	0.994	0.88582	D	0.000000	0.84330	D	0.000000	0.999731	0.48635	D	2.65	0.77586	M	1.24	0.68474	T	-2.06	0.51157	N	0.617	0.71942	-0.0749	0.80667	T	0.495	0.80840	T	10	0.004176259	0.00083	T	.	.	.	0.302	0.62290	.	.	0.487348339145	0.48367	0.4481330787601541	0.44731	.	.	0.460464268923	0.33375	T	0.022522	0.35049	T	-0.152979	0.27845	T	0.0198042	0.71617	D	0.0728186114367229	0.09042	T	0.933907	0.75239	D	0.3528086	0.57284	0.33974877	0.59736	0.3528086	0.57284	0.33974877	0.59736	-8.792	0.66348	D	.	.	0.278	0.53214	B	.;.;.;.;.	.;.;.;.;.	4.506969	0.70541	25.5	0.99850857536313498	0.93013	0.99311	0.94324	D	AEFBI	0.859689	0.77741	D	0.826195839115585	0.87713	9.314701	0.823421429889501	0.91371	10.85346	0.999999999591199	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.94	5.94	0.96165	7.598000	0.82000	11.896000	0.99222	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	20.359	0.98850	679	0.60090	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	1371.83	33	chr2	43574474	.	G	C	1371.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.419;DP=291;ExcessHet=0;FS=2.466;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=-0.419;SOR=0.932	GT:AD:DP:GQ:PL	0/1:53,57:110:99:1382,0,1297	5	0	1	0
chr2	46758626	46758626	G	A	exonic	SOCS5	.	nonsynonymous SNV	SOCS5:NM_014011:exon2:c.G96A:p.M32I,SOCS5:NM_144949:exon2:c.G96A:p.M32I	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00548515277445	.	.	3.302e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs774542100	1.574e-05	1.573e-05	6.807e-06	2.475e-05	0.0002	1.048e-05	8.75e-06	0.0001	9.451e-05	0	0	0	0	0	0.0002	0	9.937e-05	0.0002	6.57e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.272	0.15930	T	0.408	0.14633	T	0.0	0.02946	B	0.0	0.01387	B	0.269468	0.15156	N	0.655281	0.672235	0.30354	N	0.205	0.09354	N	1.62	0.28189	T	-0.23	0.10656	N	0.091	0.07262	-1.0748	0.08390	T	0.046	0.19599	T	10	0.058442324	0.06871	T	0.005485	0.14106	T	0.050	0.13987	0.187	0.09646	0.279776271856	0.27574	0.23431999031180184	0.23346	0.148172030145	0.16707	0.327716886997	0.14590	T	0.267372	0.63939	T	-0.402901	0.02216	T	-0.556837	0.16675	T	0.149075508117676	0.17029	T	0.70223	0.31206	T	0.14699003	0.33623	0.15428741	0.36217	0.14699003	0.33623	0.15428741	0.36216	-1.917	0.02882	T	.	.	0.104	0.19276	B	.;.	.;.	2.614190	0.33961	19.49	0.97946413928184073	0.37071	0.90388	0.51524	D	AEFBI	0.178328	0.30559	N	-0.198510242131039	0.33195	1.880623	0.0281677969860849	0.41029	2.458111	0.999994465253938	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	1.663000	0.37045	6.510000	0.55805	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:0.7437:0.2563	13.063	0.58428	736	0.53558	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	862.83	42	chr2	46758626	.	G	A	862.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.13;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.14;ReadPosRankSum=1.29;SOR=0.601	GT:AD:DP:GQ:PL	0/1:24,33:57:99:873,0,649	5	0	1	0
chr2	71682612	71682612	A	G	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130976:exon53:c.A6097G:p.I2033V,DYSF:NM_001130986:exon53:c.A6100G:p.I2034V,DYSF:NM_001130455:exon54:c.A6142G:p.I2048V,DYSF:NM_001130977:exon54:c.A6160G:p.I2054V,DYSF:NM_001130980:exon54:c.A6190G:p.I2064V,DYSF:NM_001130984:exon54:c.A6163G:p.I2055V,DYSF:NM_001130985:exon54:c.A6193G:p.I2065V,DYSF:NM_003494:exon54:c.A6139G:p.I2047V,DYSF:NM_001130978:exon55:c.A6202G:p.I2068V,DYSF:NM_001130979:exon55:c.A6232G:p.I2078V,DYSF:NM_001130981:exon55:c.A6253G:p.I2085V,DYSF:NM_001130982:exon55:c.A6235G:p.I2079V,DYSF:NM_001130983:exon55:c.A6205G:p.I2069V,DYSF:NM_001130987:exon55:c.A6256G:p.I2086V	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	0	1513	8	1	0	10	0.00329381	.	.	.	100253	Miyoshi_myopathy|Miyoshi_muscular_dystrophy_1|Qualitative_or_quantitative_defects_of_dysferlin|Limb-girdle_muscular_dystrophy,_recessive|not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B	MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130,Orphanet:45448|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130,Orphanet:45448|MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073|MedGen:CN239352|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.287	0.0376093905226	0.0002	0.000998403	0.0004	0.0002	0.0008	0	0	0.0002	0	0.0013	0.0003687	57	154602	rs150834671	0.0004	0.0004	0.0004	0.0004	0.0019	0.0004	0.0004	0.0011	0.0010	5.974e-05	0.0005	0	0	0	0.0019	0.0004	0.0003	0.0013	0.0002	0.0002	0.0003	0.0001	0.0010	0.0002	0.0001	0.0004	0.0003	9.641e-05	0	0.0005	0	0	0	0	0.0003	0	0.0010	0.009	0.58626	D	0.09	0.42436	T	0.861	0.47410	P	0.672	0.54822	P	0.000130	0.49741	D	0.200820	0.945508	0.38651	D	2.37	0.68279	M	-1.97	0.85173	D	-0.73	0.20576	N	0.313	0.36043	-0.0037	0.82179	T	0.552	0.83611	D	10	0.0332371	0.01495	T	0.037609	0.57720	D	0.287	0.60574	.	.	0.682595736848	0.67989	0.5128477279156468	0.51206	0.125644526005	0.14166	0.451496750116	0.32149	T	0.618363	0.88002	D	-0.271249	0.11618	T	-0.207958	0.53891	T	0.0358344118829158	0.02951	T	0.881912	0.60169	D	0.11803938	0.27819	0.16269685	0.37779	0.11803938	0.27818	0.16269685	0.37778	-6.71	0.51886	T	0.2355381310636637	0.31893	0.085	0.09965	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.201725	0.43545	21.8	0.99855697884841543	0.93458	0.94693	0.62006	D	AEFDBI	0.641005	0.61849	D	0.188791092334703	0.50661	3.254016	0.243024779817554	0.52254	3.401438	0.999102726669899	0.38452	0.706548	0.73137	0	0.59043	0.45803	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.1	3.86	0.43689	1.672000	0.37139	.	.	0.756000	0.94297	0.982000	0.35529	1.000000	0.68203	0.998000	0.85391	0.8383:0.0:0.0:0.1617	9.250	0.36707	643	0.63827	.;.;.;.;Ferlin, C-terminal domain;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	2436.83	35	chr2	71682612	.	A	G	2436.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.078;DP=383;ExcessHet=0;FS=0.528;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.5;SOR=0.73	GT:AD:DP:GQ:PL	0/1:89,105:194:99:2447,0,2106	5	0	1	0
chr2	73088530	73088530	G	A	exonic	RAB11FIP5	.	nonsynonymous SNV	RAB11FIP5:NM_001371272:exon3:c.C1088T:p.P363L,RAB11FIP5:NM_015470:exon3:c.C1088T:p.P363L	.	419	1097	6	0	0	6	0.00272727	.	.	.	3308540	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.215	0.0202232363663	.	.	0.0002	0	8.661e-05	0	0	0.0001	0.0011	0.0011	0.000194	30	154602	rs201939228	0.0002	0.0002	0.0002	0.0003	0.0033	0.0002	0.0002	0.0022	0.0018	0.0002	0.0001	0	0	0	0.0033	9.712e-05	0.0003	0.0018	0.0001	0.0001	8.988e-05	0.0002	0.0004	8.165e-05	6.722e-05	0.0001	8.283e-05	2.411e-05	0	0.0003	0	0	0	0.0032	0.0001	0	0.0004	0.002	0.72154	D	0.0	0.92824	D	0.02	0.18235	B	0.012	0.16012	B	0.000001	0.84330	D	0.000000	1	0.81001	D	2.165	0.60562	M	0.3	0.58755	T	-5.41	0.85176	D	0.574	0.59648	-0.5232	0.67796	T	0.284	0.65567	T	10	0.05217597	0.05212	T	0.020223	0.42769	T	0.215	0.50805	0.267	0.21418	0.612129062911	0.60900	0.49523469877638576	0.49444	0.118568909948	0.13351	0.524407625198	0.42248	T	0.177135	0.85908	T	-0.293328	0.09304	T	-0.21875	0.52857	T	0.219044134020805	0.21416	T	0.766723	0.39447	T	0.33118635	0.55568	0.3176898	0.57742	0.33118635	0.55568	0.3176898	0.57741	-2.625	0.06695	T	.	.	0.101	0.19559	B	.;.	.;.	3.619786	0.51223	23.1	0.99735094467945895	0.83047	0.95398	0.64564	D	AEFBI	0.277068	0.39166	N	-0.14979531714233	0.35243	2.021862	-0.241825825984249	0.30054	1.688906	0.999999941322968	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.566861	0.19136	0	0.714379	0.83352	0	.	.	4.13	3.24	0.36257	5.886000	0.69487	7.466000	0.59102	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.015000	0.10482	0.0955:0.0:0.9045:0.0	10.811	0.45749	613	0.66686	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.005435	0.005848	0.000000	0.000000	0.003049	0.000000	0.08333	1092.83	34	chr2	73088530	.	G	A	1092.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.128;DP=267;ExcessHet=0;FS=0.782;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-0.987;SOR=0.593	GT:AD:DP:GQ:PL	0/1:49,42:91:99:1103,0,1310	5	0	1	0
chr2	88027814	88027814	C	T	exonic	KRCC1	.	nonsynonymous SNV	KRCC1:NM_001304526:exon4:c.G750A:p.M250I,KRCC1:NM_016618:exon4:c.G750A:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.00360557328611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.454	0.12812	T	0.973	0.57599	D	0.801	0.58220	P	0.000010	0.62929	D	0.062069	0.787913	0.34349	D	2.32	0.66415	M	1.41	0.33412	T	-2.43	0.53258	N	0.2	0.22098	-0.9946	0.31405	T	0.115	0.40808	T	10	0.2972219	0.47284	T	0.003606	0.08247	T	0.155	0.40530	0.213	0.13210	0.429552544315	0.42571	0.008182418173270626	0.00783	0.725708912501	0.62471	0.720203101635	0.70076	T	0.108146	0.42094	T	0.0289227	0.55579	T	-0.196231	0.55004	T	0.930124342441559	0.59463	D	0.79822	0.44280	T	0.2638534	0.49451	0.2377635	0.49082	0.2638534	0.49451	0.2377635	0.49081	-3.438	0.15573	T	.	.	0.622	0.69783	P	.	.	3.581203	0.50486	22.9	0.99264800120860308	0.57356	0.66198	0.32995	D	AEFDBI	0.185647	0.31297	N	0.487158083610881	0.66339	4.937415	0.543827579182642	0.70969	5.584056	0.999999972041284	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.99	5.99	0.97299	1.847000	0.38939	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	17.971	0.89036	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	109.26	58	chr2	88027814	.	C	T	109.26	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-3.175;DP=308;ExcessHet=0;FS=57.113;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.85;ReadPosRankSum=-1.001;SOR=5.546	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,15:59:99:0|1:88027814_C_T:116,0,883:88027814	2	0	1	3
chr2	94876618	94876618	C	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C611G:p.A204G,TEKT4:NM_144705:exon6:c.C1157G:p.A386G	.	432	224	865	0	1	866	0.658797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.00662812679854	.	.	.	.	.	.	.	.	.	.	0.0002781	43	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.026	0.55759	D	0.986	0.61523	D	0.919	0.65474	D	0.000066	0.52346	D	0.125962	0.999996	0.58761	D	3.695	0.94570	H	3.93	0.03435	T	-2.62	0.56301	D	0.22	0.24634	-1.1093	0.03130	T	0.045	0.19478	T	10	0.34525645	0.51502	T	0.006628	0.17501	T	0.223	0.52023	0.627	0.76254	0.325533332567	0.32158	0.46843450301837664	0.46762	0.206080854031	0.23033	0.606577515602	0.53832	T	0.278563	0.65122	T	-0.0817015	0.39437	T	-0.355135	0.38615	T	0.993828952312469	0.84790	D	0.723528	0.33695	T	0.19832417	0.41730	0.4733884	0.69475	0.19832417	0.41730	0.4733884	0.69476	-7.747	0.59334	D	.	.	0.123	0.25656	B	.	.	3.340079	0.46023	22.2	0.99465032145053101	0.65996	0.46731	0.27825	N	AEFDGBI	0.300572	0.40933	N	0.291003033652373	0.55691	3.733242	0.0724350553839575	0.43168	2.624199	0.878548229655452	0.25568	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	3.467000	0.52842	4.098000	0.41847	0.302000	0.18967	0.053000	0.21524	0.999000	0.35428	0.607000	0.31564	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	5181.55	272	chr2	94876618	.	C	G	5181.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.193;DP=1614;ExcessHet=11.5949;FS=2.864;MLEAC=6;MLEAF=0.5;MQ=57.84;MQRankSum=-15.73;QD=3.22;ReadPosRankSum=-1.665;SOR=1.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:251,37:288:99:0|1:94876601_A_G:798,0,10408:94876601	0	0	6	0
chr2	94876632	94876632	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C625T:p.R209C,TEKT4:NM_144705:exon6:c.C1171T:p.R391C	.	431	192	898	1	0	900	0.700935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.00282003103799	.	.	0.0020	0.0044	0.0012	0.0058	0	0.0016	0.0025	0.0012	0.00073	19	26028	rs72817671	5.478e-06	9.577e-06	5.451e-06	5.507e-06	7.196e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	0	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.078	0.33923	T	0.094	0.39645	T	0.048	0.22112	B	0.017	0.18140	B	0.104906	0.19681	N	0.502966	0.998961	0.45775	D	2.51	0.73131	M	4.19	0.02716	T	-4.17	0.75456	D	0.327	0.36779	-0.9567	0.39789	T	0.009	0.03315	T	10	0.010076523	0.00226	T	0.00282	0.05898	T	0.180	0.45073	.	.	0.280181792013	0.27631	0.3283832477789456	0.32751	0.0418521914883	0.04503	0.566292226315	0.48154	T	0.161975	0.50645	T	-0.0952065	0.37216	T	-0.374534	0.36360	T	0.0299758459612643	0.01985	T	0.763824	0.39073	T	0.11296644	0.26684	0.099358894	0.23720	0.11296644	0.26684	0.099358894	0.23719	-7.259	0.55903	T	.	.	0.087	0.11414	B	.	.	2.884469	0.38179	20.7	0.9739629417086707	0.33750	0.03769	0.09084	N	AEFDGBI	0.024782	0.01590	N	-0.521150392773251	0.21396	1.135229	-0.512733045882346	0.21807	1.181449	3.92921537291663E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	1.05	0.19280	0.158000	0.16239	-0.300000	0.10122	0.302000	0.18967	0.046000	0.21249	0.000000	0.08366	0.706000	0.34326	0.5496:0.4504:0.0:0.0	6.095	0.19238	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015609	0.035354	0.004076	0.005848	0.000000	0.008621	0.033537	0.018939	0.5	7558.55	298	chr2	94876632	.	C	T	7558.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-3.508;DP=1828;ExcessHet=11.5949;FS=0.73;MLEAC=6;MLEAF=0.5;MQ=57.29;MQRankSum=-16.62;QD=4.26;ReadPosRankSum=-0.764;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:273,49:322:99:0|1:94876601_A_G:1155,0,11161:94876601	0	0	6	0
chr2	94876671	94876671	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A664G:p.I222V,TEKT4:NM_144705:exon6:c.A1210G:p.I404V	.	425	183	912	2	0	916	0.714509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.00380674609401	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs142133592	3.422e-06	3.42e-06	4.086e-06	2.751e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.044	0.49663	D	0.967	0.56408	D	0.77	0.56828	P	0.000003	0.62929	D	0.059094	0.999993	0.58761	D	2.465	0.71551	M	3.8	0.03781	T	-0.93	0.24898	N	0.355	0.39659	-1.1543	0.00903	T	0.035	0.15030	T	10	0.2894683	0.46528	T	0.003807	0.08899	T	0.186	0.46104	.	.	0.0716867268079	0.06686	0.38576410498893454	0.38491	0.041304716601	0.04434	0.519737362862	0.41590	T	0.070106	0.33877	T	-0.102007	0.36092	T	-0.384302	0.35219	T	0.773092746734619	0.44626	D	0.518148	0.16784	T	0.11624111	0.27419	0.19920714	0.43791	0.11624111	0.27418	0.19920714	0.43790	-6.086	0.46993	T	.	.	0.080	0.07650	B	.	.	2.197892	0.28028	17.66	0.99758744490040718	0.84851	0.77619	0.38185	D	AEFDGBI	0.245424	0.36636	N	0.178097147237031	0.50149	3.207675	0.0117110839863197	0.40257	2.399706	0.274437957628434	0.18925	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	2.475000	0.44821	2.894000	0.35409	0.373000	0.20310	0.967000	0.34061	1.000000	0.68203	0.500000	0.29017	1.0:0.0:0.0:0.0	8.354	0.31480	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	9541.55	352	chr2	94876671	.	A	G	9541.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-4.803;DP=2062;ExcessHet=11.5949;FS=2.415;MLEAC=6;MLEAF=0.5;MQ=57.09;MQRankSum=-16.99;QD=4.66;ReadPosRankSum=3.98;SOR=0.556	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:317,49:366:99:.:.:1103,0,12891:.	0	0	6	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T,TEKT4:NM_144705:exon6:c.G1213A:p.A405T	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	0.0115815	0.0037	0.0032	0.0047	0.0156	0.0008	0.0021	0.0047	0.0045	0.0058783	153	26028	rs75603622	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.267	0.22561	T	0.003	0.11197	B	0.013	0.16460	B	0.039834	0.24126	N	0.433987	0.997095	0.22793	N	3.49	0.92661	M	4.15	0.02815	T	-1.68	0.40082	N	0.141	0.14054	-0.9396	0.42679	T	0.013	0.04985	T	10	0.0041491687	0.00082	T	.	.	.	0.156	0.40720	.	.	0.117506650769	0.11410	0.2704892680538193	0.26961	0.0299475133996	0.03088	0.393358677626	0.24142	T	0.056124	0.30199	T	-0.161562	0.26520	T	-0.469849	0.25532	T	0.0468978844343634	0.04948	T	0.689731	0.29897	T	0.042698704	0.06523	0.104346365	0.25059	0.042698704	0.06523	0.104346365	0.25058	-4.749	0.33991	T	.	.	0.081	0.08129	B	.	.	1.062693	0.14447	11.02	0.91920144370954304	0.21243	0.00957	0.03676	N	AEFDGBI	0.022506	0.01133	N	-1.17567910300973	0.05369	0.2445992	-1.31751710428587	0.04204	0.1977864	0.0017749666691999	0.08872	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	-2.21	0.06581	0.036000	0.13706	2.580000	0.33410	-0.673000	0.04287	0.001000	0.13787	0.571000	0.25572	0.394000	0.26647	0.1368:0.0:0.6998:0.1633	6.926	0.23596	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012588	0.025253	0.002717	0.011696	0.000000	0.000000	0.021341	0.018939	0.5	10610.5	352	chr2	94876674	.	G	A	10610.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-5.835;DP=2088;ExcessHet=11.5949;FS=2.361;MLEAC=6;MLEAF=0.5;MQ=57.13;MQRankSum=-18.24;QD=5.17;ReadPosRankSum=4.44;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:304,59:363:99:.:.:1562,0,12381:.	0	0	6	0
chr2	94876731	94876731	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C724T:p.R242C,TEKT4:NM_144705:exon6:c.C1270T:p.R424C	.	422	173	925	2	0	929	0.728627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0041459355799	.	0.000199681	0.0026	0.0055	0.0008	0.0029	0.0009	0.0031	0.0024	0.0009	0.0016136	42	26028	rs1052809	2.266e-05	4.721e-05	2.05e-05	2.484e-05	0.0002	1.616e-05	1.421e-05	7.131e-05	5.487e-05	5.977e-05	6.711e-05	0	0	0	0.0002	9.902e-06	8.287e-05	0.0001	6.572e-06	6.567e-06	0	1.345e-05	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.103	0.30097	T	0.066	0.44501	T	0.572	0.38625	P	0.148	0.34065	B	0.002019	0.37457	N	0.261531	0.999997	0.58761	D	1.775	0.45938	L	4.11	0.02916	T	-4.13	0.75139	D	0.316	0.35620	-0.8786	0.49872	T	0.010	0.03856	T	10	0.01365149	0.00289	T	0.004146	0.09931	T	0.132	0.35948	.	.	0.491455083755	0.48780	0.5777951626377072	0.57708	0.0586537782296	0.06507	0.432330518961	0.29528	T	0.138567	0.47212	T	-0.133279	0.30966	T	-0.429223	0.30023	T	0.0535928154404934	0.06120	T	0.627737	0.24333	T	0.19040447	0.40625	0.158895	0.37084	0.19040447	0.40624	0.158895	0.37084	-4.535	0.31344	T	.	.	0.086	0.10883	B	.	.	2.921119	0.38776	20.8	0.98416532006618407	0.41234	0.09068	0.14897	N	AEFDGBI	0.064399	0.12503	N	-0.384009387342546	0.26038	1.418045	-0.456280458516489	0.23371	1.274154	0.0109668901558148	0.12109	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	1.541000	0.35732	0.966000	0.23025	0.302000	0.18967	0.091000	0.22601	0.000000	0.08366	0.392000	0.26603	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.045317	0.136364	0.005435	0.035088	0.000000	0.043103	0.076220	0.030303	0.3333	4172.96	338	chr2	94876731	.	C	T	4172.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.14;DP=1716;ExcessHet=3.1439;FS=6.452;MLEAC=4;MLEAF=0.333;MQ=57.61;MQRankSum=-18.2;QD=3.01;ReadPosRankSum=0.057;SOR=1.338	GT:AD:DP:GQ:PL	0/1:281,49:330:99:610,0,7461	2	0	4	0
chr2	95025851	95025851	C	T	exonic	MAL	.	nonsynonymous SNV	MAL:NM_002371:exon1:c.C59T:p.T20I,MAL:NM_022438:exon1:c.C59T:p.T20I,MAL:NM_022439:exon1:c.C59T:p.T20I,MAL:NM_022440:exon1:c.C59T:p.T20I	.	388	1109	22	3	0	28	0.0124666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	0.0076	0.00199681	0.0162	0.0018	0.0156	0	0	0.0297	0.0195	0.0012	0.0052134	806	154602	rs145146615	0.0082	0.0082	0.0083	0.0081	0.0088	0.0081	0.0080	0.0087	0.0086	0.0011	0.0056	0.0426	0	0.0003	0.0070	0.0088	0.0092	0.0010	0.0070	0.0070	0.0074	0.0066	0.0095	0.0066	0.0065	0.0089	0.0086	0.0018	0	0.0089	0.0495	0	0.0002	0.0205	0.0095	0.0099	0.0014	0.485	0.24277	T	0.495	0.32249	T	0.004	0.12183	B	0.015	0.17295	B	0.026871	0.25848	N	0.460133	0.999977	0.18612	N	1.57	0.39626	L	0.93	0.44065	T	-1.92	0.52938	N	0.151	0.30461	-1.0551	0.13013	T	0.044	0.19111	T	10	0.0031993985	0.00054	T	.	.	.	0.054	0.15330	.	.	0.0934897674506	0.08844	0.3817801171766306	0.38093	0.174444806428	0.19643	0.50339615345	0.39301	T	0.180979	0.53250	T	-0.6756	0.00051	T	-0.73598	0.04061	T	0.0084325555868	0.00102	T	0.676232	0.28664	T	0.10449589	0.24704	0.06650184	0.13630	0.10449589	0.24704	0.06650184	0.13629	-5.589	0.50379	T	.	.	0.116	0.27463	B	.;.;.;.	.;.;.;.	2.089621	0.26580	17.17	0.99236888052641958	0.56405	0.02767	0.07463	N	AEFDBHCI	0.036616	0.04908	N	-0.922860901612739	0.10309	0.4919917	-0.932565642264624	0.11328	0.5764469	0.999991458896869	0.74766	0.652421	0.48094	0	0.748881	0.99253	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	3.96	-0.348	0.11987	-0.487000	0.06585	-0.715000	0.07732	0.520000	0.23804	0.001000	0.13787	0.000000	0.08366	0.977000	0.56843	0.0:0.4648:0.1802:0.3549	3.863	0.08512	.	.	Marvel domain;.;.;.	.	.	.	.	rs145146615	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008621	0.026316	0.006849	0.008876	0.000000	0.000000	0.003067	0.007576	0.08333	839.83	33	chr2	95025851	.	C	T	839.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.172;DP=255;ExcessHet=0;FS=5.999;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=-1.717;SOR=0.798	GT:AD:DP:GQ:PL	0/1:38,37:75:99:850,0,884	5	0	1	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	.	.	0.4725	0.4791	0.4803	0.4672	0.4880	0.4733	0.4644	0.4563	0.0898263	2338	26028	rs5005871	6.166e-06	8.414e-05	8.18e-06	4.132e-06	1.162e-05	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0002	0	0	0	1.162e-05	8.21e-05	0.0014	8.013e-05	8.417e-05	0.0001	4.669e-05	3.648e-05	4.891e-05	3.155e-05	0.0001	0	0.0001	0	0	0.0003	0	3.041e-05	0	0	0.015	0.52492	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-1.08	0.28084	N	0.033	0.00882	-0.9453	0.41764	T	0.020	0.08266	T	7	0.002589792	0.00039	T	.	.	.	0.055	0.15663	.	.	.	.	0.012446412429317067	0.01203	.	.	.	.	.	0.01031	0.09320	T	-0.355653	0.04382	T	-0.748648	0.03539	T	0.0108537478151246	0.00155	T	0.411359	0.10665	T	0.03944852	0.05450	0.041137557	0.04607	0.03944852	0.05449	0.041137557	0.04607	-4.418	0.29800	T	.	.	0.294	0.52491	B	.	.	0.798647	0.11694	8.273	0.5612225942636786	0.05485	0.02449	0.06892	N	AEFI	0.055298	0.10127	N	-1.21497369849486	0.04782	0.2165626	-1.43546346583335	0.02904	0.1344849	0.00116623651718095	0.08293	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.28	0.02543	0.547000	0.23007	-2.563000	0.03605	-0.638000	0.04459	0.451000	0.26573	0.000000	0.08366	0.008000	0.08271	0.3266:0.1273:0.3289:0.2173	0.771	0.00959	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	5188.55	176	chr2	95855390	.	T	C	5188.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=3.46;DP=1041;ExcessHet=11.5949;FS=19.931;MLEAC=6;MLEAF=0.5;MQ=55.8;MQRankSum=-9.318;QD=5.13;ReadPosRankSum=-4.855;SOR=1.975	GT:AD:DP:GQ:PL	0/1:116,41:157:99:873,0,3065	0	0	6	0
chr2	95855549	95855549	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5810G:p.N1937S	.	442	278	792	10	0	812	0.593567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.4955	0.4792	0.5	0.4994	0.4998	0.4950	0.4987	0.4997	0.0874443	2276	26028	rs5005869	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.296	0.14694	T	0.507	0.10930	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.62	0.12988	T	-0.23	0.10656	N	0.021	0.00339	-0.9299	0.44153	T	0.011	0.04088	T	7	0.0016410053	0.00020	T	.	.	.	0.027	0.05988	.	.	.	.	0.0144060030913769	0.01397	.	.	.	.	.	0.002	0.01223	T	-0.411715	0.01936	T	-0.829176	0.01277	T	0.00502627076001595	0.00054	T	0.545645	0.18668	T	0.016608926	0.00209	0.02213417	0.00245	0.016608926	0.00209	0.02213417	0.00245	-4.21	0.26896	T	.	.	0.100	0.17060	B	.	.	-0.269215	0.02755	0.369	0.23312518342213173	0.00979	0.00866	0.03436	N	AEFI	0.023348	0.01289	N	-1.09098549269488	0.06808	0.3144812	-1.2104876692623	0.05741	0.2743807	9.86009276359309E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-0.838	0.10218	0.492000	0.22144	-6.933000	0.01270	0.312000	0.19173	0.073000	0.22155	0.000000	0.08366	0.002000	0.04165	0.0:0.3513:0.0:0.6487	6.069	0.19105	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	11748.5	251	chr2	95855549	.	T	C	11748.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.045;DP=1322;ExcessHet=11.5949;FS=17.003;MLEAC=6;MLEAF=0.5;MQ=44.42;MQRankSum=-8.676;QD=9.11;ReadPosRankSum=-0.118;SOR=1.519	GT:AD:DP:GQ:PL	0/1:97,76:175:99:1757,0,2754	0	0	6	0
chr2	95855576	95855576	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.T5783C:p.I1928T	.	453	483	584	2	0	588	0.378378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	.	0.0351	0.0714	0.0215	0.0369	0.0035	0.0411	0.0420	0.0134	0.0472952	1231	26028	rs5005868	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0003	8.988e-05	0	0	0	0	0	0.0004	0.0001	0	0.0001	0.0001	0.0002	8.079e-05	0.0002	8.674e-05	7.264e-05	0.0001	9.902e-05	0.0001	0	0	0	0	0	0	0.0002	0	0	0.061	0.37118	T	0.076	0.42614	T	.	.	.	.	.	.	.	.	.	.	0.999854	0.20048	N	.	.	.	2.41	0.15492	T	-2.88	0.60507	D	0.111	0.09772	-1.0255	0.21919	T	0.039	0.16634	T	7	0.0018533468	0.00025	T	.	.	.	0.016	0.02506	.	.	.	.	0.019306205368593718	0.01884	.	.	.	.	.	0.00751	0.06912	T	-0.24663	0.14515	T	-0.592043	0.13489	T	0.0121704833066968	0.00195	T	0.355564	0.08068	T	0.13378952	0.31107	0.17544822	0.40011	0.13378952	0.31107	0.17544822	0.40010	-5.456	0.41455	T	.	.	0.137	0.29914	B	.	.	2.390189	0.30693	18.52	0.99376893328488414	0.61715	0.31313	0.24306	N	AEFI	0.047864	0.08107	N	-0.41657885139222	0.24888	1.347055	-0.520845466279587	0.21587	1.168515	1.17212494177188E-4	0.05269	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	2.11	0.26299	1.107000	0.30724	-0.057000	0.12472	0.351000	0.19951	0.797000	0.29682	0.000000	0.08366	0.192000	0.21661	1.0:0.0:0.0:0.0	8.115	0.30096	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	8268.55	217	chr2	95855576	.	A	G	8268.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.158;DP=1152;ExcessHet=11.5949;FS=28.673;MLEAC=6;MLEAF=0.5;MQ=46.51;MQRankSum=-8.188;QD=7.42;ReadPosRankSum=-2.232;SOR=2.278	GT:AD:DP:GQ:PL	0/1:88,48:136:99:1305,0,2516	0	0	6	0
chr2	95855586	95855586	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5773G:p.M1925V	.	447	884	189	2	0	193	0.0984192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.000861707961223	.	.	0.0008	0.0001	0.0009	0.0002	0.0002	0.0014	0	0.0001	3.84e-05	1	26028	rs201192250	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.24758	T	0.137	0.33894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	-2.2	0.49519	N	0.124	0.11626	-0.9610	0.38993	T	0.019	0.07800	T	7	0.011997491	0.00260	T	8.62E-4	0.00755	T	0.035	0.08770	.	.	0.0806252709748	0.07271	0.015437605054057783	0.01499	.	.	.	.	.	0.004928	0.04354	T	-0.342361	0.05226	T	-0.729554	0.04347	T	0.0291781713714631	0.01865	T	0.515548	0.16619	T	0.11939599	0.28113	0.13833767	0.33041	0.11939599	0.28113	0.13833767	0.33040	-3.711	0.19481	T	.	.	0.227	0.45954	B	.	.	0.618436	0.09867	6.630	0.39056500088029883	0.02672	0.17497	0.19862	N	AEFI	0.042474	0.06596	N	-0.697976344310311	0.16079	0.8160669	-0.828039099870389	0.13816	0.7187932	1.99158050687805E-5	0.02871	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-2.48	0.06052	0.550000	0.23052	-0.005000	0.13145	0.312000	0.19173	0.994000	0.38300	0.000000	0.08366	0.117000	0.19042	0.3728:0.0:0.19:0.4372	3.442	0.07037	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	1047.61	209	chr2	95855586	.	T	C	1047.61	.	AC=5;AF=0.417;AN=12;BaseQRankSum=2.15;DP=1111;ExcessHet=6.1542;FS=21.641;MLEAC=5;MLEAF=0.417;MQ=47.41;MQRankSum=-5.213;QD=1.15;ReadPosRankSum=-1.6;SOR=2.589	GT:AD:DP:GQ:PL	0/1:123,13:136:3:3,0,4816	1	0	5	0
chr2	95855588	95855588	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5771G:p.Q1924R	.	449	591	480	2	0	484	0.290516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.0306	0.0658	0.0188	0.0337	0.0028	0.0359	0.0324	0.0111	0.0379591	988	26028	rs5005867	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.4	0.15608	T	-2.4	0.52776	N	0.054	0.02559	-0.9776	0.35548	T	0.023	0.09968	T	7	0.004524857	0.00093	T	.	.	.	0.035	0.08770	.	.	.	.	0.014319341971499302	0.01388	.	.	.	.	.	0.034191	0.23222	T	-0.342862	0.05192	T	-0.730274	0.04316	T	0.0218009842485075	0.00887	T	0.374863	0.08927	T	0.052712794	0.09870	0.11261669	0.27173	0.052712794	0.09870	0.11261669	0.27172	-5.986	0.46163	T	.	.	0.14	0.30686	B	.	.	1.453026	0.18743	13.90	0.88078949201552847	0.17700	0.32438	0.24585	N	AEFI	0.045481	0.07443	N	-0.542064366665841	0.20732	1.095167	-0.636773118221108	0.18551	0.9915041	9.62839158373236E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	0.82	0.17932	2.106000	0.41459	0.119000	0.14890	-0.667000	0.04321	1.000000	0.71638	0.000000	0.08366	0.084000	0.17470	0.0:0.1714:0.2923:0.5363	2.541	0.04438	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	6207.55	208	chr2	95855588	.	T	C	6207.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.403;DP=1106;ExcessHet=11.5949;FS=38.206;MLEAC=6;MLEAF=0.5;MQ=47.77;MQRankSum=-7.427;QD=5.73;ReadPosRankSum=-2.553;SOR=2.683	GT:AD:DP:GQ:PL	0/1:95,38:133:99:939,0,2666	0	0	6	0
chr2	95859895	95859895	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4960G:p.T1654A	.	951	467	84	20	0	124	0.117202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.4444	0.4790	0.4373	0.4517	0.4253	0.4197	0.4345	0.4715	0.0150223	391	26028	rs75198192	4.293e-06	9.85e-05	5.648e-06	2.901e-06	2.806e-05	1.54e-06	1.02e-06	.	.	0	2.806e-05	0	0	4.058e-05	0	0	5.178e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.222	0.25748	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999981	0.18198	N	.	.	.	2.33	0.16492	T	-0.27	0.11366	N	0.03	0.00717	-0.9918	0.32141	T	0.020	0.08593	T	9	0.0021876395	0.00032	T	.	.	.	0.035	0.08770	.	.	.	.	0.004573925157677656	0.00430	.	.	0.524144649506	0.42211	T	0.007589	0.06987	T	-0.275691	0.11129	T	-0.633787	0.10130	T	0.00243692789656227	0.00025	T	0.119888	0.00926	T	0.026656736	0.01750	0.04326469	0.05342	0.026656736	0.01750	0.04326469	0.05342	-4.496	0.30836	T	.	.	0.118	0.24260	B	.	.	1.595165	0.20400	14.73	0.67616785214816144	0.08408	0.26935	0.23135	N	AEFI	0.048105	0.08173	N	-0.927352117069161	0.10206	0.4865986	-0.909991846583639	0.11858	0.6066753	7.95608252575671E-5	0.04552	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	0.945000	0.28654	2.286000	0.31928	-0.387000	0.05364	0.808000	0.29825	0.078000	0.22336	0.001000	0.02609	0.0:0.0:0.0:1.0	7.648	0.27501	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	3009.96	69	chr2	95859895	.	T	C	3009.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.169;DP=479;ExcessHet=3.1439;FS=13.078;MLEAC=4;MLEAF=0.333;MQ=57.21;MQRankSum=-0.682;QD=9.84;ReadPosRankSum=-0.057;SOR=0.307	GT:AD:DP:GQ:PL	0/1:60,9:69:99:197,0,2492	2	0	4	0
chr2	95859969	95859969	-	T	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon82:c.4885_4886insA:p.L1629Hfs*4	.	952	362	155	53	0	261	0.264975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4228	0.4631	0.4656	0.4778	0.3159	0.4147	0.4099	0.4349	0.0494083	1286	26028	rs111957693	5.008e-06	5.814e-05	5.648e-06	4.351e-06	.	2.08e-06	1.34e-06	.	.	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8297.51	109	chr2	95859969	.	A	AT	8297.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.864;DP=746;ExcessHet=11.5949;FS=3.529;MLEAC=6;MLEAF=0.5;MQ=58.67;MQRankSum=-7.716;QD=11.24;ReadPosRankSum=0.225;SOR=0.849	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,35:121:99:0|1:95859969_A_AT:1211,0,3473:95859969	0	0	6	0
chr2	95859970	95859970	G	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4885A:p.L1629M	.	957	355	157	53	0	263	0.270298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	.	0.4545	0.4802	0.4743	0.4840	0.3659	0.4484	0.4515	0.4666	0.0009221	24	26028	rs77057279	9.318e-06	0.0001	7.073e-06	1.162e-05	.	5.2e-06	4.01e-06	.	.	0	0	0	0	0.0003	0	0	0	0	0	2.631e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.911	0.02361	T	0.243	0.24193	T	0.053	0.22573	B	0.021	0.19346	B	.	.	.	.	0.994063	0.23594	N	.	.	.	2.42	0.15376	T	1.44	0.00794	N	0.079	0.05414	-0.9807	0.34840	T	0.008	0.02801	T	9	0.0015536547	0.00018	T	.	.	.	0.028	0.06331	.	.	.	.	0.0034729447233706272	0.00324	.	.	0.598522663116	0.52695	T	0.002815	0.02207	T	-0.296982	0.08946	T	-0.664371	0.07975	T	0.000298728606434334	0.00002	T	0.227477	0.03026	T	0.060971648	0.12573	0.043196924	0.05321	0.060971648	0.12573	0.043196924	0.05321	-3.51	0.16572	T	.	.	0.079	0.07224	B	.	.	-0.617261	0.01525	0.098	0.057558437599456599	0.00015	0.02138	0.06301	N	AEFI	0.027961	0.02376	N	-1.81372414748207	0.00512	0.02205084	-1.77419214230889	0.00845	0.0377715	9.60209616443048E-5	0.04910	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-3.7	0.04150	-1.387000	0.02641	-5.763000	0.01604	-0.394000	0.05329	0.245000	0.24799	0.000000	0.08366	0.008000	0.08271	0.2827:0.0:0.3453:0.372	3.712	0.07953	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	8294.55	109	chr2	95859970	.	G	T	8294.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.035;DP=742;ExcessHet=11.5949;FS=3.529;MLEAC=6;MLEAF=0.5;MQ=58.67;MQRankSum=-7.716;QD=11.22;ReadPosRankSum=0.118;SOR=0.852	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,35:121:99:0|1:95859969_A_AT:1211,0,3473:95859969	0	0	6	0
chr2	95859975	95859975	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4880A:p.R1627Q	.	957	354	158	53	0	264	0.271605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	.	.	0.4301	0.4670	0.4743	0.4733	0.3036	0.4236	0.4062	0.4476	0.00073	19	26028	rs77757712	2.22e-05	6.841e-05	2.827e-05	1.597e-05	8.413e-05	1.591e-05	1.386e-05	2.23e-05	1.218e-05	3.172e-05	8.413e-05	0	0	6.31e-05	0	1.855e-05	1.726e-05	3.789e-05	1.316e-05	1.971e-05	1.286e-05	1.348e-05	6.563e-05	2.19e-06	8.2e-07	.	.	0	0	6.563e-05	0	0	0	0	1.471e-05	0	0	0.162	0.23541	T	0.485	0.11725	T	0.055	0.22733	B	0.007	0.12992	B	.	.	.	.	0.999977	0.18612	N	.	.	.	2.42	0.15376	T	-0.1	0.08495	N	0.04	0.01347	-0.9474	0.41414	T	0.010	0.03492	T	9	0.0016048849	0.00019	T	.	.	.	0.036	0.09122	.	.	.	.	0.007547077727271438	0.00720	.	.	0.508793115616	0.40052	T	0.002443	0.01836	T	-0.329346	0.06161	T	-0.710859	0.05250	T	0.00527709899755481	0.00057	T	0.480052	0.14488	T	0.032344773	0.03241	0.03586384	0.02919	0.032344773	0.03241	0.03586384	0.02918	-4.415	0.29759	T	.	.	0.069	0.03231	B	.	.	0.983069	0.13607	10.14	0.66913885358475289	0.08199	0.01513	0.05000	N	AEFI	0.023495	0.01318	N	-1.4910599935179	0.01913	0.08394092	-1.36789013472358	0.03599	0.1682304	1.02737162787131E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.634	0.16889	0.827000	0.27075	-0.579000	0.08386	-0.398000	0.05312	0.991000	0.37257	0.000000	0.08366	0.005000	0.06747	0.0:0.1617:0.0:0.8383	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	8252.55	108	chr2	95859975	.	C	T	8252.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.016;DP=744;ExcessHet=11.5949;FS=2.673;MLEAC=6;MLEAF=0.5;MQ=58.65;MQRankSum=-7.931;QD=11.18;ReadPosRankSum=-0.019;SOR=0.881	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,35:119:99:0|1:95859969_A_AT:1217,0,3401:95859969	0	0	6	0
chr2	95859988	95859988	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4867G:p.R1623G	.	946	377	143	56	0	255	0.252725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	.	0.3985	0.4181	0.4615	0.4624	0.2601	0.3839	0.3829	0.4293	0.0005763	15	26028	rs78585559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.037	0.51737	D	0.618	0.39878	P	0.296	0.40883	B	.	.	.	.	1	0.08975	P	.	.	.	2.35	0.16217	T	-2.17	0.49018	N	0.036	0.01068	-1.0403	0.17223	T	0.022	0.09284	T	8	0.0021658242	0.00031	T	.	.	.	0.031	0.07369	.	.	.	.	0.01648333609809802	0.01603	.	.	0.464800566435	0.33968	T	0.014368	0.12243	T	-0.283116	0.10340	T	-0.644453	0.09348	T	0.0103390599998185	0.00141	T	0.690331	0.29972	T	0.11867667	0.27957	0.10622412	0.25550	0.11867667	0.27957	0.10622412	0.25549	-4.221	0.27055	T	.	.	0.167	0.36712	B	.	.	1.395340	0.18086	13.54	0.66348352263891242	0.08032	0.01091	0.04015	N	AEFI	0.037962	0.05300	N	-0.829849498643622	0.12552	0.6125249	-0.95288899799542	0.10856	0.5494909	1.69149918813486E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	-0.401000	0.07293	-0.372000	0.09600	0.443000	0.21123	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2013:0.0:0.7987	3.593	0.07545	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	7445.55	104	chr2	95859988	.	T	C	7445.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.378;DP=747;ExcessHet=11.5949;FS=1.934;MLEAC=6;MLEAF=0.5;MQ=58.63;MQRankSum=-8.029;QD=10.06;ReadPosRankSum=0.4;SOR=0.896	GT:AD:DP:GQ:PL	0/1:88,32:120:99:1059,0,2267	0	0	6	0
chr2	95860002	95860002	T	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4853T:p.H1618L	.	945	422	104	51	0	206	0.19619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	.	.	0.2918	0.3574	0.4353	0.4062	0.1258	0.3207	0.2719	0.2565	0.0003842	10	26028	rs76379993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.73	0.05165	T	0.898	0.49442	P	0.775	0.57058	P	.	.	.	.	1	0.08975	P	.	.	.	2.2	0.18570	T	-7.35	0.94620	D	0.157	0.16308	-0.9983	0.30395	T	0.066	0.27087	T	8	0.0024163425	0.00036	T	.	.	.	0.098	0.28162	.	.	.	.	0.011885642134936694	0.01148	.	.	0.603820681572	0.53443	T	0.17093	0.51885	T	-0.130986	0.31337	T	-0.425929	0.30399	T	0.0896707485037565	0.11179	T	0.667933	0.27701	T	0.5114563	0.67764	0.4059057	0.64978	0.5114563	0.67765	0.4059057	0.64978	-5.063	0.37516	T	.	.	0.223	0.45409	B	.	.	1.545032	0.19810	14.45	0.68803435199818186	0.08772	0.02181	0.06385	N	AEFI	0.047683	0.08056	N	-0.541266882709805	0.20758	1.096673	-0.816850501380551	0.14087	0.7342697	9.81280304122205E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.873	0.10096	1.014000	0.29553	0.760000	0.21307	0.443000	0.21123	0.026000	0.20160	0.002000	0.18203	0.026000	0.12556	0.2602:0.3442:0.0:0.3955	2.065	0.03383	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	5634.55	98	chr2	95860002	.	T	A	5634.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.934;DP=709;ExcessHet=11.5949;FS=2.843;MLEAC=6;MLEAF=0.5;MQ=58.62;MQRankSum=-7.188;QD=8.07;ReadPosRankSum=-0.426;SOR=0.958	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,28:113:99:0|1:95860002_T_A:920,0,3437:95860002	0	0	6	0
chr2	95860007	95860007	A	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.T4848A:p.D1616E	.	965	351	153	53	0	259	0.269511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	.	0.3716	0.3968	0.4638	0.4468	0.1996	0.3624	0.3348	0.3997	0.000461	12	26028	rs77658288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.887	0.03161	T	0.886	0.48745	P	0.685	0.53610	P	.	.	.	.	1	0.08975	P	.	.	.	2.36	0.16089	T	0.87	0.01688	N	0.018	0.00252	-1.0311	0.20099	T	0.037	0.16116	T	8	0.0017204583	0.00022	T	.	.	.	0.058	0.16647	0.102	0.01589	.	.	0.0016336715894167176	0.00151	.	.	0.627778291702	0.56830	T	0.00182	0.01242	T	-0.339353	0.05432	T	-0.725233	0.04547	T	0.0127801602154166	0.00217	T	0.50325	0.15827	T	0.05346143	0.10121	0.066788726	0.13731	0.05346143	0.10121	0.066788726	0.13730	-4.052	0.24579	T	.	.	0.276	0.50970	B	.	.	0.679021	0.10477	7.192	0.92075444711269228	0.21422	0.00300	0.01598	N	AEFI	0.017840	0.00496	N	-0.631580650889932	0.18000	0.9310604	-0.811362641984672	0.14221	0.7419123	9.14715249298931E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.608	0.16746	-0.101000	0.10943	-4.154000	0.02312	0.333000	0.19617	0.036000	0.20778	0.000000	0.08366	0.028000	0.12845	0.5619:0.0:0.0:0.4381	4.768	0.12514	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	6525.55	97	chr2	95860007	.	A	T	6525.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.02;DP=689;ExcessHet=11.5949;FS=2.838;MLEAC=6;MLEAF=0.5;MQ=58.55;MQRankSum=-7.349;QD=9.51;ReadPosRankSum=-0.529;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,28:112:99:0|1:95860002_T_A:923,0,3401:95860002	0	0	6	0
chr2	95860020	95860020	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4835T:p.T1612I	.	975	346	149	52	0	253	0.267725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	.	.	0.3429	0.4093	0.4357	0.4212	0.1584	0.3445	0.2982	0.3516	0.0003842	10	26028	rs78780931	7.168e-07	5.473e-06	1.415e-06	0	9.285e-07	0	0	.	.	0	0	0	0	0	0	9.285e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999979	0.18612	P	.	.	.	2.38	0.15843	T	3.02	0.00138	N	0.054	0.02559	-0.9370	0.43088	T	0.010	0.03627	T	8	0.0017494261	0.00022	T	.	.	.	0.071	0.20720	.	.	.	.	0.0033875092255602627	0.00316	.	.	0.597990691662	0.52621	T	2.31E-4	0.00048	T	-0.282657	0.10387	T	-0.643793	0.09394	T	0.00465201252591891	0.00050	T	0.257674	0.04066	T	0.036191136	0.04406	0.044979855	0.05950	0.036191136	0.04405	0.044979855	0.05949	-0.577	0.00632	T	.	.	0.124	0.26042	B	.	.	0.379084	0.07510	4.156	0.096937678722497284	0.00105	0.00352	0.01813	N	AEFI	0.013252	0.00170	N	-1.41969246255212	0.02466	0.1089284	-1.29164163050699	0.04543	0.2145151	1.02751695127801E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.635	0.16895	2.080000	0.41211	-0.435000	0.09196	-1.105000	0.01501	0.995000	0.38783	0.000000	0.08366	0.000000	0.00833	0.8383:0.0:0.1617:0.0	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	5563.55	84	chr2	95860020	.	G	A	5563.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.329;DP=643;ExcessHet=11.5949;FS=2.962;MLEAC=6;MLEAF=0.5;MQ=58.6;MQRankSum=-7.104;QD=8.82;ReadPosRankSum=-0.538;SOR=1.001	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,26:109:99:0|1:95860020_G_A:842,0,3309:95860020	0	0	6	0
chr2	95860023	95860023	A	C	exonic	ANKRD36C	.	stopgain	ANKRD36C:NM_001310154:exon82:c.T4832G:p.L1611X	.	975	348	147	52	0	251	0.265048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3459	0.4102	0.4378	0.4239	0.1587	0.3478	0.2957	0.3558	0.0004226	11	26028	rs74941794	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.64576e-15	0.58761	P	.	.	.	.	.	.	.	.	.	0.039	0.01274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464733	0.93127	D	0.429781	0.93041	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.440231	0.90928	32	0.96148246009950666	0.28859	0.36954	0.25651	N	AEFI	0.088588	0.17958	N	-0.131946649004641	0.36007	2.075519	-0.471627380579264	0.22940	1.248476	9.52799824835323E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.698	0.10713	0.445000	0.21392	-0.434000	0.09203	-1.250000	0.01303	0.993000	0.37899	0.000000	0.08366	0.002000	0.04165	0.6458:0.0:0.3542:0.0	5.748	0.17400	256	0.89942	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	5356.55	83	chr2	95860023	.	A	C	5356.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.07;DP=627;ExcessHet=11.5949;FS=3.964;MLEAC=6;MLEAF=0.5;MQ=58.57;MQRankSum=-7.249;QD=8.57;ReadPosRankSum=-0.327;SOR=1.08	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,25:108:99:0|1:95860020_G_A:800,0,3312:95860020	0	0	6	0
chr2	95860046	95860046	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4809T:p.K1603N	.	996	348	132	46	0	224	0.243478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.2995	0.4068	0.4155	0.3993	0.0859	0.3214	0.2411	0.2818	0.0869064	2262	26028	rs79908880	2.159e-06	4.789e-06	1.421e-06	2.916e-06	3.19e-05	5.8e-07	1.6e-07	3.1e-07	1.2e-07	3.19e-05	0	0	0	0	0	1.863e-06	0	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0	0.767	0.03412	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	.	.	.	2.33	0.16492	T	1.87	0.00472	N	0.043	0.01577	-0.9644	0.38330	T	0.008	0.02842	T	8	0.0017981231	0.00024	T	.	.	.	0.027	0.05988	0.388	0.40951	.	.	0.009782736317217211	0.00940	.	.	0.538346886635	0.44213	T	0.002324	0.01720	T	-0.380822	0.03079	T	-0.784801	0.02311	T	0.00124196999210505	0.00012	T	0.263374	0.04265	T	0.04313465	0.06669	0.036235157	0.03030	0.04313465	0.06669	0.036235157	0.03030	-0.766	0.00774	T	.	.	0.068	0.02639	B	.	.	-0.084979	0.03731	0.770	0.10447506845337422	0.00132	0.00336	0.01748	N	AEFI	0.012014	0.00120	N	-2.28437407882715	0.00049	0.002118662	-2.21407410585182	0.00104	0.004576006	2.08611004689468E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	-2.51	0.05996	1.202000	0.31878	0.062000	0.14145	-1.184000	0.01383	0.735000	0.28974	0.000000	0.08366	0.000000	0.00833	0.4851:0.195:0.1314:0.1885	0.839	0.01073	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	3318.55	67	chr2	95860046	.	C	A	3318.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.515;DP=493;ExcessHet=11.5949;FS=6.844;MLEAC=6;MLEAF=0.5;MQ=58.18;MQRankSum=-7.747;QD=6.87;ReadPosRankSum=-1.292;SOR=1.31	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:71,13:84:99:.:.:333,0,1886:.	0	0	6	0
chr2	95927222	95927222	-	AT	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon28:c.1930_1931insAT:p.S644Yfs*24	.	585	748	183	6	0	195	0.115316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs745741068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3049.51	101	chr2	95927222	.	G	GAT	3049.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.34;DP=575;ExcessHet=11.5949;FS=33.996;MLEAC=6;MLEAF=0.5;MQ=54.76;MQRankSum=-7.373;QD=5.36;ReadPosRankSum=-3.339;SOR=3.709	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,15:87:99:0|1:95927222_G_GAT:413,0,2978:95927222	0	0	6	0
chr2	95927227	95927228	TT	-	exonic	ANKRD36C	.	frameshift deletion	ANKRD36C:NM_001310154:exon28:c.1925_1926del:p.Q642Pfs*18	.	630	694	193	5	0	203	0.127593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs772059065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	4621.51	108	chr2	95927226	.	GTT	G	4621.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.93;DP=631;ExcessHet=11.5949;FS=10.097;MLEAC=6;MLEAF=0.5;MQ=54.39;MQRankSum=-8.138;QD=7.34;ReadPosRankSum=-3.294;SOR=1.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,20:93:99:0|1:95927222_G_GAT:620,0,3005:95927222	0	0	6	0
chr2	95927234	95927234	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.A1919G:p.E640G	.	638	673	206	5	0	216	0.138284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.00618498349042	.	.	0.0012	0.0016	0.0011	0.0019	0.0005	0.0013	0	0.0007	3.84e-05	1	26028	rs758839836	6.856e-07	6.84e-07	1.364e-06	0	9.007e-07	0	0	.	.	0	0	0	0	0	0	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.11	0.77466	T	-0.39	0.13611	N	0.176	0.18920	-0.5261	0.67688	T	0.427	0.77022	T	6	0.03557104	0.01812	T	0.006185	0.16200	T	0.149	0.39377	.	.	0.42989457901	0.42608	0.007308549639332476	0.00696	.	.	.	.	.	0.003258	0.02667	T	-0.0875605	0.38480	T	-0.363551	0.37640	T	0.0366356248361039	0.03091	T	0.168983	0.05631	T	0.062684655	0.13118	0.16541363	0.38267	0.062684655	0.13117	0.16541363	0.38267	-4.184	0.26519	T	.	.	0.130	0.27998	B	.;.	.;.	2.279132	0.29141	18.03	0.9497533031407277	0.25908	0.01715	0.05438	N	AEFBI	0.033788	0.04074	N	-0.603271583609637	0.18846	0.9816864	-0.856632057968517	0.13128	0.6793434	1.06943366512053E-5	0.01202	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	1.624000	0.36629	-0.363000	0.09661	0.319000	0.19345	0.008000	0.17931	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	6313.55	116	chr2	95927234	.	T	C	6313.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.561;DP=697;ExcessHet=11.5949;FS=6.255;MLEAC=6;MLEAF=0.5;MQ=54.19;MQRankSum=-8.821;QD=9.07;ReadPosRankSum=-4.26;SOR=1.25	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,25:103:99:0|1:95927222_G_GAT:815,0,3200:95927222	0	0	6	0
chr2	95927252	95927252	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.T1901C:p.I634T	.	674	623	216	9	0	234	0.158108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	.	.	.	0.0825	0.1113	0.0839	0.1182	0.1114	0.0793	0.0608	0.0544	3.84e-05	1	26028	rs111976783	2.057e-06	2.052e-06	2.729e-06	1.378e-06	6.728e-05	5.5e-07	1.5e-07	1.784e-05	8.95e-06	0	6.728e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.194	0.28120	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.08	0.77078	T	-0.99	0.26200	N	0.069	0.17278	-0.8026	0.54991	T	0.326	0.69410	T	6	0.0039491355	0.00076	T	.	.	.	0.194	0.47447	.	.	.	.	0.0049901546743311475	0.00471	.	.	.	.	.	0.003965	0.03373	T	-0.0895306	0.38154	T	-0.366381	0.37311	T	0.00782888568937778	0.00092	T	0.441356	0.12522	T	0.056561366	0.11145	0.12979923	0.31201	0.056561366	0.11144	0.12979923	0.31200	-5.925	0.50163	T	.	.	0.180	0.48715	B	.;.	.;.	1.251398	0.16483	12.57	0.92565402419728915	0.22018	0.00377	0.01912	N	AEFBI	0.031745	0.03455	N	-0.892394221719867	0.11022	0.5297326	-1.14952198102138	0.06776	0.3273419	1.22801436175958E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	-1.16	0.09181	0.550000	0.23052	-1.428000	0.05463	0.359000	0.20063	0.011000	0.18532	0.000000	0.08366	0.036000	0.13842	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	12404.5	149	chr2	95927252	.	A	G	12404.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.577;DP=930;ExcessHet=11.5949;FS=0.557;MLEAC=6;MLEAF=0.5;MQ=53.25;MQRankSum=-10.9;QD=13.35;ReadPosRankSum=-3.866;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,60:148:99:0|1:95927222_G_GAT:2254,0,3514:95927222	0	0	6	0
chr2	95927268	95927268	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1885T:p.D629Y	.	676	613	224	9	0	242	0.16485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	.	.	.	0.0990	0.1443	0.0896	0.1297	0.1231	0.0957	0.0823	0.0698	0.0779227	12047	154602	rs79307257	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.596e-06	6.571e-06	0	1.351e-05	1.477e-05	0	0	.	.	0	0	0	0	0	0	0	1.477e-05	0	0	0.001	0.78490	D	0.026	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.1	0.77336	T	-1.9	0.44284	N	0.173	0.51315	-0.4874	0.69100	T	0.446	0.78240	T	6	0.0048143566	0.00102	T	.	.	.	0.333	0.65522	.	.	.	.	0.012629181598714094	0.01221	.	.	.	.	.	0.007056	0.06479	T	-0.00641558	0.50765	T	-0.246992	0.50114	T	0.852545201778412	0.50387	D	0.59994	0.27277	T	0.11685397	0.27556	0.18900135	0.42222	0.11685397	0.27555	0.18900135	0.42221	-8.156	0.62848	D	.	.	0.178	0.50389	B	.;.	.;.	2.735108	0.35810	20.0	0.94629422228171811	0.25216	0.01477	0.04919	N	AEFBI	0.029319	0.02744	N	-0.591855003156469	0.19190	1.00245	-0.847697327138236	0.13343	0.6916549	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.534000	0.22807	0.568000	0.19578	0.291000	0.18778	0.021000	0.19753	0.000000	0.08366	0.005000	0.06747	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	16199.5	176	chr2	95927268	.	C	A	16199.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-4.67;DP=1066;ExcessHet=11.5949;FS=1.787;MLEAC=6;MLEAF=0.5;MQ=52.63;MQRankSum=-11.62;QD=15.21;ReadPosRankSum=-3.648;SOR=0.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,76:166:99:0|1:95927222_G_GAT:2910,0,3550:95927222	0	0	6	0
chr2	95927277	95927277	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1876A:p.D626N	.	672	616	225	9	0	243	0.164746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	.	.	.	0.0982	0.1425	0.0884	0.1290	0.1219	0.0951	0.0815	0.0693	0.0779679	12054	154602	rs75189823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.07	0.76948	T	-0.32	0.12283	N	0.045	0.10626	-0.0304	0.81622	T	0.463	0.79190	T	5	0.0036658943	0.00067	T	.	.	.	0.172	0.43662	.	.	.	.	0.0029834670744068	0.00278	.	.	.	.	.	0.001745	0.01167	T	-0.214699	0.18721	T	-0.546177	0.17695	T	0.0182863330978625	0.00547	T	0.726827	0.34112	T	0.056939475	0.11268	0.071558535	0.15336	0.056939475	0.11268	0.071558535	0.15336	-7.104	0.55237	T	.	.	0.131	0.35560	B	.;.	.;.	2.171628	0.27671	17.54	0.99663125085786775	0.78074	0.02072	0.06171	N	AEFBI	0.036161	0.04774	N	-0.595262529696858	0.19088	0.996275	-0.85090525598683	0.13266	0.6872205	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.528000	0.22711	-1.180000	0.06099	0.291000	0.18778	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	16366.5	184	chr2	95927277	.	C	T	16366.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-4.677;DP=1111;ExcessHet=11.5949;FS=2.488;MLEAC=6;MLEAF=0.5;MQ=52.6;MQRankSum=-11.77;QD=14.95;ReadPosRankSum=-1.646;SOR=0.53	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,77:168:99:0|1:95927222_G_GAT:2928,0,3566:95927222	0	0	6	0
chr2	95929092	95929092	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.A1817G:p.E606G	.	442	885	194	1	0	196	0.0996948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	.	.	.	0.0459	0.0589	0.0223	0.0330	0.0459	0.0434	0.0437	0.0722	0.0179806	468	26028	rs76434426	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.12	0.48855	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.41	0.80560	T	-0.78	0.21644	N	0.056	0.10626	-0.3240	0.74310	T	0.401	0.75223	T	5	0.0049548745	0.00106	T	.	.	.	0.197	0.47942	.	.	.	.	0.0054717690626164255	0.00517	.	.	.	.	.	0.005311	0.04761	T	-0.0584766	0.43144	T	-0.321774	0.42379	T	0.00563426744630397	0.00061	T	0.377662	0.09460	T	0.056738406	0.11204	0.0661094	0.13496	0.056738406	0.11203	0.0661094	0.13496	-3.88	0.22002	T	.	.	0.122	0.31279	B	.;.	.;.	2.425270	0.31191	18.67	0.9961510765788425	0.75052	0.01924	0.05874	N	AEFI	0.033909	0.04109	N	-0.600821869982756	0.18921	0.9861679	-0.827596025984616	0.13828	0.7194133	1.26041081260552E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	1.761000	0.38070	0.132000	0.15059	0.312000	0.19173	0.010000	0.18352	0.001000	0.17328	0.012000	0.09680	0.0:0.0:0.0:1.0	3.983	0.08994	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	8094.55	110	chr2	95929092	.	T	C	8094.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.2;DP=771;ExcessHet=11.5949;FS=4.912;MLEAC=6;MLEAF=0.5;MQ=47.62;MQRankSum=-7.583;QD=10.62;ReadPosRankSum=-2.964;SOR=1.103	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,24:99:99:0|1:95929092_T_C:759,0,3016:95929092	0	0	6	0
chr2	95929110	95929110	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.T1799C:p.I600T	.	444	879	199	0	0	199	0.101686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	.	.	.	0.0502	0.0563	0.0250	0.0339	0.0515	0.0474	0.0455	0.0855	0.0009221	24	26028	rs80159651	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.17	0.78199	T	-0.21	0.10308	N	0.064	0.13911	-0.7459	0.58149	T	0.297	0.66886	T	6	0.0053180456	0.00117	T	.	.	.	0.230	0.53062	.	.	.	.	0.00358464158390252	0.00335	.	.	.	.	.	5.76E-4	0.00232	T	-0.102964	0.35934	T	-0.385677	0.35058	T	0.00148509498065692	0.00015	T	0.430857	0.15541	T	0.03336381	0.03541	0.041758195	0.04819	0.03336381	0.03540	0.041758195	0.04819	-5.849	0.49914	T	.	.	0.141	0.47448	B	.;.	.;.	1.598186	0.20432	14.75	0.94716897870735495	0.25385	0.00401	0.02002	N	AEFI	0.028900	0.02629	N	-0.753193177697584	0.14546	0.7255317	-1.00196959350196	0.09742	0.4864572	9.46784315172941E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.637	0.10926	0.215000	0.17352	-1.249000	0.05911	0.351000	0.19951	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.4587:0.0:0.0:0.5413	2.815	0.05119	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	10660.5	124	chr2	95929110	.	A	G	10660.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=8.51;DP=896;ExcessHet=11.5949;FS=8.404;MLEAC=6;MLEAF=0.5;MQ=45.67;MQRankSum=-7.949;QD=11.9;ReadPosRankSum=-2.216;SOR=1.3	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,29:110:99:0|1:95929092_T_C:974,0,3314:95929092	0	0	6	0
chr2	95929126	95929126	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1783T:p.D595Y	.	442	865	215	0	0	215	0.11054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	.	.	.	0.0287	0.0327	0.0149	0.0205	0.0260	0.0277	0.0293	0.0461	0.0009221	24	26028	rs79434735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.96	0.75553	T	-1.05	0.27463	N	0.094	0.37717	-0.7052	0.60188	T	0.302	0.67344	T	6	0.007255286	0.00165	T	.	.	.	0.242	0.54781	.	.	.	.	0.01955586045237903	0.01909	.	.	.	.	.	0.003986	0.03393	T	-0.0187037	0.49039	T	-0.264643	0.48358	T	0.00831936897839858	0.00100	T	0.876612	0.58915	D	0.08026257	0.18380	0.06422837	0.12840	0.08026257	0.18380	0.06422837	0.12840	-7.935	0.60626	D	.	.	0.193	0.50147	B	.;.	.;.	1.372804	0.17831	13.39	0.93504610952685097	0.23313	0.02178	0.06379	N	AEFI	0.025243	0.01698	N	-0.59865468081622	0.18985	0.9901359	-0.821302082525131	0.13979	0.7281023	1.38702267383256E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	-0.066000	0.11556	0.673000	0.20610	0.284000	0.18682	0.001000	0.13787	0.001000	0.17328	0.010000	0.09038	0.0:1.0:0.0:0.0	5.051	0.13847	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	14540.5	150	chr2	95929126	.	C	A	14540.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.89;DP=1057;ExcessHet=11.5949;FS=15.195;MLEAC=6;MLEAF=0.5;MQ=44.37;MQRankSum=-8.825;QD=13.76;ReadPosRankSum=-2.151;SOR=1.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,42:127:99:0|1:95929092_T_C:1508,0,3443:95929092	0	0	6	0
chr2	95929130	95929130	G	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.C1779G:p.D593E	.	442	863	217	0	0	217	0.111683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	.	.	0.0281	0.0314	0.0152	0.0199	0.0259	0.0271	0.0289	0.0443	0.0009221	24	26028	rs375866621	5.512e-06	6.156e-06	6.857e-06	4.153e-06	7.204e-06	2.37e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.204e-06	0	0	6.603e-06	6.573e-06	1.29e-05	0	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	1.0	0.00964	T	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.99	0.75911	T	-0.17	0.09627	N	0.012	0.01274	-0.9830	0.34305	T	0.120	0.41886	T	6	0.0062747	0.00142	T	.	.	.	0.082	0.23913	0.088	0.00943	.	.	0.0012585486106362017	0.00115	.	.	.	.	.	6.61E-4	0.00291	T	-0.22299	0.17588	T	-0.558086	0.16556	T	0.0056942431256175	0.00062	T	0.361264	0.08382	T	0.030476715	0.02717	0.028199261	0.01033	0.030476715	0.02717	0.028199261	0.01033	1.103	0.00153	T	.	.	0.184	0.39898	B	.;.	.;.	-0.102250	0.03628	0.719	0.82362292130898662	0.14152	0.00009	0.00143	N	AEFI	0.011962	0.00118	N	-1.12759496650573	0.06156	0.2826552	-1.32800364383948	0.04072	0.1913117	8.82048009805059E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0539	0.13146	0.175000	0.16577	-0.796000	0.07394	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5966:0.4034:0.0	4.774	0.12542	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	15558.5	155	chr2	95929130	.	G	C	15558.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=4.1;DP=1091;ExcessHet=11.5949;FS=15.27;MLEAC=6;MLEAF=0.5;MQ=44;MQRankSum=-8.641;QD=14.26;ReadPosRankSum=-1.702;SOR=1.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,44:131:99:0|1:95929092_T_C:1586,0,3521:95929092	0	0	6	0
chr2	95929135	95929135	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1774A:p.D592N	.	440	860	222	0	0	222	0.114315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	.	0.0258	0.0286	0.0139	0.0184	0.0245	0.0251	0.0266	0.0399	0.0009221	24	26028	rs111462973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.31	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.0	0.76037	T	-0.29	0.11728	N	0.04	0.12341	-0.9745	0.36235	T	0.178	0.52334	T	6	0.0032269955	0.00055	T	.	.	.	0.061	0.17616	.	.	.	.	0.004280505726367948	0.00402	.	.	.	.	.	0.002625	0.02014	T	-0.209791	0.19408	T	-0.539127	0.18382	T	0.0104211887073546	0.00143	T	0.69513	0.30474	T	0.054424945	0.10441	0.04548125	0.06130	0.054424945	0.10440	0.04548125	0.06129	-6.736	0.52081	T	.	.	0.134	0.35352	B	.;.	.;.	2.140902	0.27259	17.40	0.99632098778018607	0.76081	0.00615	0.02724	N	AEFI	0.027355	0.02221	N	-0.807133128301253	0.13128	0.6445496	-1.03707422889346	0.08978	0.4441984	8.83579175512005E-6	0.01202	0.651	0.46895	0	0.653731	0.59785	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0868	0.13014	0.656000	0.24632	0.771000	0.21396	0.284000	0.18682	0.006000	0.17386	0.005000	0.19230	0.009000	0.08673	0.0:0.6672:0.0:0.3328	3.151	0.06100	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	15783.5	159	chr2	95929135	.	C	T	15783.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=3.75;DP=1140;ExcessHet=11.5949;FS=16.95;MLEAC=6;MLEAF=0.5;MQ=43.55;MQRankSum=-8.589;QD=14.26;ReadPosRankSum=-1.773;SOR=1.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,45:132:99:0|1:95929092_T_C:1603,0,3490:95929092	0	0	6	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	696.25	102	chr2	97185345	.	GTAAT	G	696.25	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.582;DP=635;ExcessHet=3.1439;FS=0.93;MLEAC=4;MLEAF=0.333;MQ=46.41;MQRankSum=-3.55;QD=1.71;ReadPosRankSum=2.06;SOR=0.559	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,5:73:5:0|1:97185336_GC_G:5,0,2840:97185336	2	0	4	0
chr2	97187197	97187197	G	T	splicing	ANKRD36	NM_001354587:exon31:c.2042-1G>T	.	.	.	.	.	.	.	.	.	.	1.0000	0.758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.638e-05	0	0	0	0	0	0	0.0006	3.84e-05	1	26028	rs752686197	7.821e-05	7.867e-05	6.007e-05	9.653e-05	0.0012	6.618e-05	6.159e-05	0.0005	0.0005	0	2.246e-05	0	0	0	0.0012	4.321e-05	6.66e-05	0.0007	1.318e-05	1.314e-05	1.287e-05	1.35e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.472e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.987828	0.24476	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.422846	0.01641	T	-0.845165	0.01024	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	3.633587	0.51480	23.1	0.71472587123277698	0.09641	0.19653	0.20744	N	AEFI	.	.	.	0.252391704153505	0.53756	3.543268	-0.148314293614632	0.33474	1.915096	1.91562431560172E-5	0.02871	0.088506	0.02282	0	0.097471	0.02872	0	0.121303	0.03266	0	0.088406	0.02457	0	0.0865931	0.19698	1.19	1.19	0.20120	2.301000	0.43289	4.731000	0.44554	0.320000	0.19365	0.327000	0.25564	0.999000	0.35428	0.004000	0.06068	0.0:0.0:1.0:0.0	5.804	0.17693	214	0.91692	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	198.83	36	chr2	97187197	.	G	T	198.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.875;DP=217;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=56.75;MQRankSum=-0.543;QD=5.68;ReadPosRankSum=0.557;SOR=0.616	GT:AD:DP:GQ:PL	0/1:23,12:35:99:209,0,550	5	0	1	0
chr2	97243989	97243989	C	T	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.C4451T:p.A1484V	.	603	769	146	4	0	154	0.0910165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00106584311882	.	.	4.541e-05	0	0	0	0	0	0	0.0003	3.84e-05	1	26028	rs879638068	2.069e-06	1.163e-05	2.744e-06	1.387e-06	3.54e-05	5.5e-07	1.5e-07	9.4e-06	4.61e-06	0	0	0	0	0	0	0	0	3.54e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.19430	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.35	0.16217	T	1.55	0.00694	N	0.16	0.16725	-1.0012	0.29574	T	0.013	0.05129	T	9	0.043822676	0.03272	T	0.001066	0.01215	T	0.009	0.00846	.	.	0.0138822411134	0.00435	.	.	.	.	0.738302230835	0.72722	T	0.006193	0.05627	T	-0.286201	0.10021	T	-0.648885	0.09033	T	0.0436484596629869	0.04357	T	0.352565	0.07917	T	0.018949645	0.00419	0.03829343	0.03666	0.018949645	0.00418	0.03829343	0.03665	.	.	.	.	.	0.116	0.23255	B	.;.	.;.	0.661907	0.10304	7.035	0.93505387120157391	0.23315	0.00023	0.00238	N	AEFI	0.010700	0.00081	N	-1.46380150830159	0.02111	0.09285368	-1.52457588063721	0.02156	0.09874057	1.16333637191878E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.4	-0.226	0.12460	0.981000	0.29124	-0.502000	0.08796	-1.926000	0.00503	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.0:0.1981:0.0:0.8019	4.757	0.12464	198	0.92335	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	112.72	88	chr2	97243989	.	C	T	112.72	.	AC=2;AF=0.2;AN=10;BaseQRankSum=0;DP=315;ExcessHet=0.4139;FS=9.03;MLEAC=2;MLEAF=0.2;MQ=37.3;MQRankSum=-0.597;QD=0.83;ReadPosRankSum=0.354;SOR=1.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,3:37:15:0|1:97243981_C_T:15,0,1419:97243981	3	0	2	1
chr2	97513220	97513220	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2765T:p.A922V	.	613	640	247	22	0	291	0.185232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0963	0.0850	0.0216	0.0100	0.3296	0.0294	0.1310	0.0097	0.0001921	5	26028	rs80135902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.031	0.15888	.	.	.	.	.	.	.	0.0024380386	0.00036	T	.	.	.	.	.	.	.	.	.	0.0030564260149934064	0.00284	.	.	0.613379478455	0.54794	T	0.007581	0.06977	T	-0.0927998	0.37613	T	-0.371077	0.36763	T	.	.	.	0.352565	0.07917	T	0.017845605	0.00308	0.067346	0.13920	0.017845605	0.00308	0.067346	0.13919	-1.943	0.02973	T	.	.	0.108	0.23709	B	.;.;.	.;.;.	0.756607	0.11265	7.891	0.24358559582250291	0.01073	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	1.16123222590643E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.0495094	0.09020	1.25	-0.477	0.11493	0.374000	0.20232	-0.021000	0.12925	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7908:0.0:0.2092:0.0	4.611	0.11791	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.242358	0.041667	0.256579	0.288889	0.375000	0.340426	0.247788	0.262376	0.5	9810.55	118	chr2	97513220	.	G	A	9810.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.994;DP=745;ExcessHet=11.5949;FS=2.663;MLEAC=6;MLEAF=0.5;MQ=35.14;MQRankSum=-2.353;QD=13.17;ReadPosRankSum=-0.246;SOR=0.92	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,35:113:99:0|1:97513219_T_C:1235,0,3170:97513219	0	0	6	0
chr2	97513227	97513227	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2758G:p.K920E	.	611	640	249	22	0	293	0.186268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0214	0.0529	0.0036	0	0.0702	0.0066	0.0682	0.0028	3.84e-05	1	26028	rs79390266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05707	T	0.544	0.37968	P	0.044	0.24394	B	.	.	.	.	.	.	.	1.445	0.36358	L	.	.	.	.	.	.	0.12	0.33250	.	.	.	.	.	.	.	0.0055945516	0.00124	T	.	.	.	.	.	.	.	0.168933306366	0.16529	0.003989330973675759	0.00373	.	.	0.735671639442	0.72336	T	0.033889	0.23100	T	-0.112291	0.34391	T	-0.399074	0.33492	T	.	.	.	0.369363	0.08678	T	0.05957855	0.12126	0.07929396	0.17837	0.05957855	0.12126	0.07929396	0.17837	-5.258	0.39526	T	.	.	0.142	0.33086	B	.;.;.	.;.;.	1.364301	0.17734	13.34	0.46228864402172176	0.03687	0.02246	0.06510	N	AEFI	.	.	.	.	.	.	.	.	.	4.68263816856013E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.103977	0.22772	1.25	1.25	0.20475	-0.034000	0.12176	-6.769000	0.01311	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	6.615	0.21965	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.049467	0.010417	0.061189	0.058140	0.000000	0.104651	0.038462	0.040000	0.5	10342.5	125	chr2	97513227	.	T	C	10342.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.043;DP=792;ExcessHet=11.5949;FS=2.655;MLEAC=6;MLEAF=0.5;MQ=35.39;MQRankSum=-2.431;QD=13.28;ReadPosRankSum=0.888;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,38:121:99:0|1:97513219_T_C:1346,0,3360:97513219	0	0	6	0
chr2	97513244	97513244	G	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2741A:p.P914Q	.	595	624	272	31	0	334	0.211125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0143	0	0	0	0.0016	0	0	3.84e-05	1	26028	rs79527710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.10391	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-1.445	0.00556	N	.	.	.	.	.	.	0.188	0.27435	.	.	.	.	.	.	.	0.0063654184	0.00144	T	.	.	.	.	.	.	.	0.320256813643	0.31633	0.004245720093313631	0.00398	.	.	0.703683018684	0.67677	T	0.006209	0.05647	T	-0.125373	0.32247	T	-0.417866	0.31321	T	.	.	.	0.315568	0.06252	T	0.023773897	0.01146	0.07268516	0.15708	0.023773897	0.01146	0.07268516	0.15708	0.674	0.00180	T	.	.	0.102	0.17827	B	.;.;.	.;.;.	-0.119120	0.03530	0.672	0.19522481671669692	0.00662	0.00471	0.02257	N	AEFI	.	.	.	.	.	.	.	.	.	1.11447686844719E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0495094	0.09020	1.25	-0.0318	0.13235	0.839000	0.27239	1.716000	0.28228	-0.610000	0.04588	0.997000	0.40164	0.949000	0.28973	0.001000	0.02609	0.2806:0.0:0.2874:0.432	2.311	0.03930	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	12318.5	148	chr2	97513244	.	G	T	12318.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.163;DP=888;ExcessHet=11.5949;FS=3.359;MLEAC=6;MLEAF=0.5;MQ=35.84;MQRankSum=-2.194;QD=13.95;ReadPosRankSum=0.469;SOR=0.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,47:141:99:0|1:97513244_G_T:1690,0,3744:97513244	0	0	6	0
chr2	97513253	97513253	A	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.T2732C:p.V911A	.	594	617	279	32	0	343	0.217502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0083	0	0	0	0.0008	0	0	3.84e-05	1	26028	rs80295552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.23914	T	0.008	0.14655	B	0.002	0.06944	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.109	0.12627	.	.	.	.	.	.	.	0.00813821	0.00185	T	.	.	.	.	.	.	.	0.216624796971	0.21254	0.003043674037080383	0.00283	.	.	0.697517633438	0.66786	T	0.028597	0.20678	T	-0.148518	0.28543	T	-0.451112	0.27575	T	.	.	.	0.321068	0.06505	T	0.015220522	0.00128	0.050442122	0.07918	0.015220522	0.00128	0.050442122	0.07917	-2.994	0.10116	T	.	.	0.23	0.46273	B	.;.;.	.;.;.	0.168625	0.05582	2.036	0.46468697738120324	0.03724	0.00493	0.02333	N	AEFI	.	.	.	.	.	.	.	.	.	1.09581247054722E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	0.037	0.13512	-0.176000	0.09802	-1.469000	0.05369	-0.632000	0.04510	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.5217:0.0:0.4783:0.0	4.080	0.09400	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000639	0.000000	0.002857	0.004630	0.000000	0.000000	0.000000	0.000000	0.5	12785.5	154	chr2	97513253	.	A	G	12785.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.503;DP=917;ExcessHet=11.5949;FS=4.21;MLEAC=6;MLEAF=0.5;MQ=36.04;MQRankSum=-2.041;QD=14.11;ReadPosRankSum=0.963;SOR=0.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,48:143:99:0|1:97513244_G_T:1729,0,3845:97513244	0	0	6	0
chr2	97513254	97513254	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2731A:p.V911M	.	594	616	280	32	0	344	0.218274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0076	0	0	0	0.0011	0	0	7.68e-05	2	26028	rs74341509	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0	0.0002	0.0002	0	8.256e-05	9.122e-05	7.317e-05	9.244e-05	0.0002	4.621e-05	3.529e-05	9.276e-05	7.178e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.098	0.39040	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.115	0.14480	.	.	.	.	.	.	.	0.008039981	0.00183	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.004376723944163083	0.00411	.	.	0.681571960449	0.64493	T	0.010384	0.09385	T	-0.177895	0.24050	T	-0.493311	0.23044	T	.	.	.	0.538946	0.18179	T	0.01859633	0.00382	0.05722728	0.10366	0.01859633	0.00382	0.05722728	0.10366	-3.253	0.13139	T	.	.	0.167	0.37746	B	.;.;.	.;.;.	0.527632	0.08965	5.745	0.40177876468154022	0.02819	0.00378	0.01916	N	AEFI	.	.	.	.	.	.	.	.	.	1.15642168101809E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	-0.662	0.10840	-0.590000	0.05854	-9.274000	0.00843	0.304000	0.19002	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.0:0.6788:0.0:0.3212	5.565	0.16451	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006345	0.000000	0.005682	0.000000	0.000000	0.000000	0.008264	0.008696	0.5	12794.5	151	chr2	97513254	.	C	T	12794.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.061;DP=916;ExcessHet=11.5949;FS=4.21;MLEAC=6;MLEAF=0.5;MQ=36.03;MQRankSum=-2.041;QD=14.17;ReadPosRankSum=0.806;SOR=1.003	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,48:143:99:0|1:97513244_G_T:1729,0,3845:97513244	0	0	6	0
chr2	97513268	97513268	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2717A:p.R906K	.	591	591	298	42	0	382	0.244246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2502	0.2966	0.2791	0.2632	0.3769	0.2470	0.2431	0.1747	0.0004995	13	26028	rs144131603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.27235	T	0.119	0.26641	B	0.008	0.13708	B	.	.	.	.	.	.	.	1.495	0.37439	L	.	.	.	.	.	.	0.042	0.16028	.	.	.	.	.	.	.	0.002357304	0.00035	T	.	.	.	.	.	.	.	.	.	0.005747616653950952	0.00544	.	.	0.613570392132	0.54820	T	0.017136	0.14032	T	-0.187866	0.22573	T	-0.507633	0.21559	T	.	.	.	0.572743	0.20478	T	0.03131732	0.02950	0.0672792	0.13896	0.03131732	0.02950	0.0672792	0.13896	-3.791	0.20670	T	.	.	0.137	0.29968	B	.;.;.	.;.;.	-1.310648	0.00429	0.009	0.36842002943516644	0.02393	0.00779	0.03201	N	AEFI	.	.	.	.	.	.	.	.	.	1.25854079706441E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	0.308	0.15062	-1.265000	0.02953	-5.898000	0.01560	-1.898000	0.00526	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7823:0.0:0.2177	5.370	0.15434	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.308701	0.315385	0.320055	0.309735	0.250000	0.263158	0.341912	0.338843	0.5	14088.5	157	chr2	97513268	.	C	T	14088.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.1;DP=942;ExcessHet=11.5949;FS=3.264;MLEAC=6;MLEAF=0.5;MQ=36.45;MQRankSum=-2.206;QD=15.02;ReadPosRankSum=1.17;SOR=0.946	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,55:153:99:0|1:97513268_C_T:2014,0,3929:97513268	0	0	6	0
chr2	97513270	97513270	A	C	exonic	ANKRD36B	.	stopgain	ANKRD36B:NM_025190:exon38:c.T2715G:p.Y905X	.	591	592	298	41	0	380	0.242967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2438	0.2932	0.2713	0.2615	0.3746	0.2394	0.2372	0.1697	0.0005763	15	26028	rs879468063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.361473	0.04047	T	-0.757008	0.03221	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.385426	0.46848	22.4	0.44838944251633817	0.03476	0.03038	0.07927	N	AEFI	.	.	.	.	.	.	.	.	.	1.13426159498125E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.166916	0.28634	1.25	0.017	0.13431	-0.091000	0.11111	-1.488000	0.05326	0.375000	0.20354	0.013000	0.18845	0.000000	0.08366	0.003000	0.05239	0.7855:0.0:0.2145:0.0	4.462	0.11093	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.323424	0.318182	0.331044	0.327434	0.333333	0.307018	0.349265	0.347107	0.5	14249.5	157	chr2	97513270	.	A	C	14249.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.475;DP=947;ExcessHet=11.5949;FS=3.291;MLEAC=6;MLEAF=0.5;MQ=36.52;MQRankSum=-2.055;QD=15.05;ReadPosRankSum=1.31;SOR=0.944	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,56:156:99:0|1:97513268_C_T:2050,0,3969:97513268	0	0	6	0
chr2	97513271	97513271	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2714G:p.Y905C	.	591	590	299	42	0	383	0.245042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2908	0.3387	0.3276	0.3085	0.4114	0.2887	0.2821	0.2034	0.0006531	17	26028	rs146893214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.56640	T	0.022	0.18677	B	0.002	0.06944	B	.	.	.	.	.	.	.	1.14	0.29013	L	.	.	.	.	.	.	0.149	0.51315	.	.	.	.	.	.	.	0.0020657778	0.00029	T	.	.	.	.	.	.	.	.	.	0.004479552258500605	0.00420	.	.	0.829705476761	0.86516	D	0.127676	0.45486	T	0.00706366	0.52624	T	-0.22763	0.52001	T	.	.	.	0.424058	0.11326	T	0.08367851	0.19332	0.12435671	0.29977	0.08367851	0.19332	0.12435671	0.29976	-3.342	0.14285	T	.	.	0.228	0.46049	B	.;.;.	.;.;.	2.163208	0.27562	17.50	0.45197924751744767	0.03530	0.10868	0.16248	N	AEFI	.	.	.	.	.	.	.	.	.	1.47313282737101E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	1.25	0.20475	2.350000	0.43718	-0.293000	0.10176	0.334000	0.19664	0.983000	0.35670	0.000000	0.08366	0.004000	0.06068	0.0:0.2551:0.0:0.7449	3.086	0.05898	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.421021	0.365672	0.435440	0.398230	0.416667	0.385965	0.470588	0.438017	0.5	14309.5	157	chr2	97513271	.	T	C	14309.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.436;DP=952;ExcessHet=11.5949;FS=3.291;MLEAC=6;MLEAF=0.5;MQ=36.56;MQRankSum=-2.055;QD=15.03;ReadPosRankSum=1.29;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,56:157:99:0|1:97513268_C_T:2047,0,3991:97513268	0	0	6	0
chr2	97513281	97513281	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2704A:p.E902K	.	587	587	303	45	0	393	0.250798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4801	0.5496	0.4874	0.4823	0.5076	0.4642	0.4639	0.4735	0.0017529	271	154602	rs5011473	3.077e-05	0.0002	3.34e-05	2.81e-05	0.0001	2.332e-05	2.077e-05	3.145e-05	1.671e-05	0.0001	0	0	0	0.0007	0	2.729e-06	0	0	0	9.135e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.094	0.41573	T	0.98	0.59353	D	0.855	0.60933	P	.	.	.	.	.	.	.	1.765	0.45800	L	.	.	.	.	.	.	0.208	0.65758	.	.	.	.	.	.	.	0.002158165	0.00031	T	.	.	.	.	.	.	.	.	.	0.03228563945784759	0.03176	.	.	0.789947628975	0.80434	T	0.190084	0.54451	T	0.0749938	0.61451	D	-0.130053	0.60967	T	.	.	.	0.733627	0.34942	T	0.02507305	0.01405	0.09507035	0.22531	0.02507305	0.01404	0.09507035	0.22530	-6.657	0.51486	T	.	.	0.139	0.30476	B	.;.;.	.;.;.	2.117809	0.26958	17.30	0.4037492673049709	0.02845	0.56632	0.30167	D	AEFI	.	.	.	.	.	.	.	.	.	1.05171682619281E-5	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.167599	0.28683	1.4	1.4	0.21393	3.749000	0.54867	0.048000	0.13961	-0.659000	0.04360	1.000000	0.71638	0.001000	0.17328	0.002000	0.04165	0.0:1.0:0.0:0.0	8.752	0.33786	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.529548	0.601351	0.515110	0.508696	0.416667	0.517241	0.552448	0.516393	0.5	14586.5	162	chr2	97513281	.	C	T	14586.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.802;DP=963;ExcessHet=11.5949;FS=3.276;MLEAC=6;MLEAF=0.5;MQ=36.9;MQRankSum=-2.365;QD=15.27;ReadPosRankSum=-0.166;SOR=0.939	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,56:158:99:0|1:97513268_C_T:2044,0,4013:97513268	0	0	6	0
chr2	97513354	97513354	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2631G:p.I877M	.	663	628	207	24	0	255	0.168762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4962	0.4838	0.4975	0.4959	0.5008	0.4970	0.4959	0.4971	0.0692716	1803	26028	rs879259208	1.426e-06	2.057e-06	1.417e-06	1.436e-06	9.218e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.218e-07	1.742e-05	0	3.782e-05	4.181e-05	5.896e-05	1.554e-05	0.0004	1.406e-05	9.03e-06	0.0001	9.02e-05	0	0	0.0004	0	0	0	0	0	0	0	.	.	.	0.093	0.39799	T	0.563	0.38396	P	0.061	0.26820	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.086	0.34120	.	.	.	.	.	.	.	0.00250566	0.00038	T	.	.	.	.	.	.	.	.	.	0.005410322706841144	0.00512	.	.	0.634645044804	0.57804	T	0.046049	0.27308	T	-0.0562864	0.43486	T	-0.318628	0.42725	T	.	.	.	0.682432	0.29103	T	0.06877274	0.15009	0.14055093	0.33500	0.06877274	0.15009	0.14055093	0.33499	-5.398	0.40900	T	.	.	0.175	0.41387	B	.;.;.	.;.;.	2.260359	0.28881	17.94	0.78590890435183058	0.12367	0.19138	0.20543	N	AEFI	.	.	.	.	.	.	.	.	.	1.43761767599795E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.223356	0.04673	0	0.0910582	0.20564	1.4	1.4	0.21393	0.366000	0.20099	-0.250000	0.10515	0.334000	0.19664	0.995000	0.38783	0.000000	0.08366	0.026000	0.12556	0.3508:0.0:0.0:0.6492	3.561	0.07435	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.493015	0.474026	0.484848	0.500000	0.500000	0.517241	0.503597	0.495868	0.5	4293.55	98	chr2	97513354	.	T	C	4293.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.73;DP=555;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=39.07;MQRankSum=-2.623;QD=7.95;ReadPosRankSum=0.805;SOR=0.714	GT:AD:DP:GQ:PL	0/1:62,26:88:99:546,0,1571	0	0	6	0
chr2	99390613	99390613	G	A	exonic	EIF5B	.	nonsynonymous SNV	EIF5B:NM_015904:exon17:c.G2656A:p.D886N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.694	0.142793453651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.061	0.45530	T	0.793	0.44725	P	0.56	0.49558	P	.	.	.	.	1	0.81001	D	3.315	0.90654	M	-0.73	0.73100	T	-3.97	0.73684	D	0.63	0.64393	0.213	0.86132	D	0.544	0.83208	D	8	0.9126357	0.90628	D	0.142793	0.82515	D	0.694	0.88913	0.864	0.95995	0.614425270908	0.61131	0.5763173653873808	0.57560	1.7600581582	0.91115	0.812806487083	0.83922	D	0.653892	0.89531	D	0.0869895	0.62849	D	-0.112822	0.62385	T	0.973848506784709	0.70263	D	0.962504	0.86259	D	0.34774193	0.56891	0.34795704	0.60442	0.34774193	0.56891	0.34795704	0.60441	-8.071	0.61553	D	.	.	0.280	0.51332	B	.;.	.;.	5.402828	0.90465	31	0.99929077074018369	0.99279	0.99272	0.93765	D	AEFBI	0.905520	0.85714	D	0.797561309752087	0.85951	8.732649	0.800243538308844	0.89809	10.13081	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	9.802000	0.98244	11.789000	0.96319	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.811	0.96543	441	0.80015	Translation elongation factor EFTu-like, domain 2;Translation elongation factor EFTu-like, domain 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	284.86	35	chr2	99390613	.	G	A	284.86	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.671;DP=361;ExcessHet=0;FS=111.054;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=3.75;ReadPosRankSum=0.535;SOR=6.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,21:76:99:0|1:99390610_G_C:295,0,1302:99390610	5	0	1	0
chr2	106413119	106413119	A	G	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon22:c.T5231C:p.L1744P	.	574	909	32	7	0	46	0.0246781	.	.	.	2348696	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.151	0.00426816041692	.	.	.	.	.	.	.	.	.	.	0.0084524	220	26028	rs1200568186	0.0025	0.0050	0.0020	0.0030	0.0187	0.0024	0.0024	0.0153	0.0143	0.0009	0.0024	0.0082	0.0134	0.0008	0.0187	0.0010	0.0033	0.0153	0.0026	0.0052	0.0025	0.0027	0.0136	0.0024	0.0023	0.0108	0.0099	0.0010	0.0022	0.0019	0.0089	0.0122	9.475e-05	0.0326	0.0023	0.0044	0.0136	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.996073	0.43003	D	-2.725	0.00030	N	1.55	0.29866	T	1.13	0.01182	N	0.329	0.36989	-0.9554	0.40024	T	0.010	0.03811	T	9	0.0046307743	0.00097	T	0.004268	0.10341	T	0.151	0.39764	0.437	0.48993	0.0716867268079	0.06686	0.14579829350993453	0.14502	.	.	0.737386345863	0.72588	T	0.003952	0.03363	T	-0.573631	0.00211	T	-0.587363	0.13895	T	0.0109880224044707	0.00158	T	0.217878	0.02755	T	0.09037789	0.21146	0.12882335	0.30987	0.09037789	0.21146	0.12882335	0.30986	-1.181	0.01224	T	.	.	0.067	0.12655	B	.;.	.;.	2.755214	0.36121	20.2	0.058904364898830178	0.00016	0.01272	0.04451	N	AEFI	0.034858	0.04391	N	-1.52334207294121	0.01697	0.07427024	-1.31612094021418	0.04221	0.1986636	3.28424657957892E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.12	1.12	0.19700	5.667000	0.67736	9.785000	0.81617	-0.720000	0.03816	1.000000	0.71638	1.000000	0.68203	0.900000	0.43643	0.2062:0.0:0.7938:0.0	5.721	0.17255	915	0.20917	GRIP domain|GRIP domain|GRIP domain;GRIP domain|GRIP domain|GRIP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.25	280.98	34	chr2	106413119	.	A	G	280.98	.	AC=3;AF=0.25;AN=12;BaseQRankSum=2.57;DP=178;ExcessHet=0;FS=14.49;MLEAC=3;MLEAF=0.25;MQ=43.44;MQRankSum=-2.944;QD=7.39;ReadPosRankSum=-2.107;SOR=3.973	GT:AD:DP:GQ:PL	0/1:26,4:30:37:37,0,711	4	1	1	0
chr2	106457583	106457583	G	A	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon3:c.C236T:p.A79V	.	343	1175	4	0	0	4	0.00169924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.634	0.0812635257962	.	.	0.0064	0	0	.	.	0.0096	0	0	0.0011142	29	26028	rs199757971	0.0055	0.0068	0.0055	0.0055	0.0064	0.0054	0.0053	0.0063	0.0062	0.0010	0.0025	0.0049	0	0.0025	0.0057	0.0064	0.0063	0.0036	0.0062	0.0075	0.0066	0.0058	0.0104	0.0058	0.0057	0.0097	0.0095	0.0018	0	0.0052	0.0070	0	0.0023	0.0105	0.0104	0.0049	0.0034	0.0	0.91255	D	0.006	0.70582	D	0.991	0.64070	D	0.992	0.80445	D	.	.	.	.	0.571552	0.32298	D	2.175	0.60977	M	-3.47	0.94546	D	-2.62	0.56301	D	0.716	0.78546	0.985	0.96939	D	0.901	0.96721	D	9	0.023100346	0.00595	T	0.081264	0.73643	D	0.634	0.85975	.	.	0.681259230406	0.67854	0.12690884095730393	0.12616	.	.	0.844268143177	0.88745	D	0.079506	0.36144	T	0.294923	0.82558	D	0.18586	0.82334	D	0.0274227119285943	0.01605	T	0.935306	0.75759	D	0.29534668	0.52484	0.4060595	0.64990	0.29534668	0.52484	0.4060595	0.64990	-9.441	0.70492	D	.	.	0.673	0.78070	P	.;.	.;.	4.546614	0.71521	25.7	0.9973414940983597	0.82975	0.96052	0.67315	D	AEFI	0.570260	0.57471	D	0.423330421158518	0.62706	4.491185	0.233916611383288	0.51737	3.353888	0.00138210857677205	0.08495	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.36	2.36	0.28258	7.802000	0.84533	11.753000	0.95453	0.318000	0.19305	1.000000	0.71638	1.000000	0.68203	0.545000	0.30055	0.0:0.0:1.0:0.0	10.426	0.43566	882	0.29131	Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing 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	.	.	.	.	.	.	.	.	0.08333	50.83	20	chr2	106457583	.	G	A	50.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.22;DP=101;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=28.84;MQRankSum=0.104;QD=3.91;ReadPosRankSum=1.1;SOR=0.124	GT:AD:DP:GQ:PL	0/1:10,3:13:61:61,0,282	5	0	1	0
chr2	108781340	108781340	G	A	exonic	RANBP2	.	nonsynonymous SNV	RANBP2:NM_006267:exon26:c.G8671A:p.G2891S	.	0	1517	5	0	0	5	0.00164528	.	.	.	516295	not_provided|Familial_acute_necrotizing_encephalopathy	MedGen:C3661900|MONDO:MONDO:0011953,MedGen:C2675556,OMIM:608033,Orphanet:88619	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.021	.	7.7e-05	0.00259585	0.0011	0.0002	0.0006	0.0003	0	6.003e-05	0	0.0069	0.0009767	151	154602	rs376940698	0.0005	0.0005	0.0003	0.0008	0.0069	0.0005	0.0005	0.0065	0.0063	5.974e-05	0.0007	0.0004	0.0019	1.872e-05	0.0005	2.878e-05	0.0006	0.0069	0.0004	0.0004	0.0002	0.0006	0.0077	0.0003	0.0003	0.0057	0.0050	4.814e-05	0	0.0002	0.0012	0.0012	0	0	4.411e-05	0.0005	0.0077	0.58	0.05992	T	0.599	0.07972	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.5	0.00507	N	1.74	0.26301	T	1.21	0.01064	N	0.094	0.07398	-0.9620	0.38800	T	0.013	0.05033	T	9	0.0043631196	0.00089	T	.	.	.	0.021	0.04004	.	.	0.15499578495	0.15088	0.09860042773383884	0.09791	0.351519266258	0.36992	0.279061615467	0.07362	T	0.114437	0.43226	T	-0.687151	0.00043	T	-0.757071	0.03218	T	0.00417180793140321	0.00044	T	0.155884	0.01367	T	0.019634185	0.00498	0.034645382	0.02569	0.019634185	0.00497	0.034645382	0.02568	-2.311	0.04615	T	0.04573714328647655	0.00598	0.069	0.03231	B	.	.	0.313853	0.06887	3.424	0.19921633511793266	0.00694	0.03404	0.08522	N	AEFBI	0.032487	0.03680	N	-1.56708925986297	0.01437	0.06268964	-1.44026719315202	0.02859	0.1323192	0.996104888014782	0.34527	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.87	0.789	0.17750	0.615000	0.24023	0.819000	0.21831	-0.292000	0.06281	0.004000	0.16614	0.008000	0.19753	0.206000	0.22070	0.5584:0.2406:0.201:0.0	5.699	0.17144	870	0.31527	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	694.83	33	chr2	108781340	.	G	A	694.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.4;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=-0.398;SOR=0.748	GT:AD:DP:GQ:PL	0/1:23,28:51:99:705,0,476	5	0	1	0
chr2	130369153	130369153	G	A	exonic	PTPN18	.	stopgain	PTPN18:NM_001142370:exon2:c.G114A:p.W38X,PTPN18:NM_014369:exon6:c.G435A:p.W145X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325002147	2.738e-06	2.736e-06	0	5.504e-06	0.0002	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.799e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003817	0.34463	N	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.257	0.29081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.544351	0.95574	D	0.544146	0.95508	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	8.725469	0.97938	38	0.99640128523199534	0.76633	0.89573	0.50124	D	AEFDBCI	0.055492	0.10181	N	0.817012087084317	0.87159	9.122323	0.667773811483215	0.79940	7.189953	0.99999999857709	0.74766	0.651	0.46895	0	0.588015	0.36545	0	0.584781	0.30282	0	0.683762	0.67416	0	.	.	4.39	4.39	0.52211	4.940000	0.63234	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	15.273	0.73416	982	0.03397	PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1009.83	35	chr2	130369153	.	G	A	1009.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.307;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=-1.03;SOR=0.687	GT:AD:DP:GQ:PL	0/1:33,37:70:99:1020,0,887	5	0	1	0
chr2	157259242	157259242	G	A	exonic	GALNT5	.	nonsynonymous SNV	GALNT5:NM_014568:exon1:c.G1160A:p.G387E	.	427	1088	7	0	0	7	0.0032066	.	.	.	2314308	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.026	0.0107647645289	0.0002	.	0.0005	9.81e-05	0.0002	0	0.0002	0.0006	0.0012	0.0008	0.000401	62	154602	rs148659459	0.0003	0.0003	0.0003	0.0003	0.0045	0.0003	0.0003	0.0032	0.0027	0.0002	0.0004	0.0057	0	1.88e-05	0.0045	0.0001	0.0006	0.0003	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0002	0.0002	7.219e-05	0	0.0005	0.0052	0	0	0.0034	0.0002	0.0009	0.0004	0.726	0.03857	T	0.79	0.04194	T	0.003	0.11197	B	0.005	0.11217	B	0.003505	0.00967	N	2.608420	1	0.08975	N	0.55	0.14455	N	0.39	0.57419	T	-0.96	0.25551	N	0.051	0.02272	-1.0479	0.14988	T	0.081	0.31943	T	10	0.0052696466	0.00115	T	0.010765	0.27663	T	0.026	0.05648	.	.	0.363751660372	0.35992	0.24062311672496817	0.23976	0.143322883005	0.16171	0.223089188337	0.01496	T	0.007241	0.06655	T	-0.511823	0.00490	T	-0.628037	0.10564	T	0.00813521896363165	0.00097	T	0.489851	0.15048	T	0.06545898	0.13992	0.068577215	0.14340	0.06545898	0.13992	0.068577215	0.14340	-3.359	0.14510	T	.	.	0.067	0.02428	B	.	.	-0.584783	0.01613	0.110	0.42212235252667135	0.03096	0.04937	0.10695	N	AEFBCI	0.035633	0.04621	N	-1.22670693354396	0.04616	0.2087019	-1.24708719781339	0.05174	0.2459058	0.999876662720086	0.44625	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.95	-3.16	0.04897	-0.839000	0.04475	-1.010000	0.06616	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.498:0.1078:0.3942:0.0	7.702	0.27791	507	0.75469	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.002717	0.008772	0.000000	0.008621	0.003049	0.003788	0.08333	1009.83	42	chr2	157259242	.	G	A	1009.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.62;DP=290;ExcessHet=0;FS=2.608;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=1.36;SOR=0.99	GT:AD:DP:GQ:PL	0/1:56,44:100:99:1020,0,1663	5	0	1	0
chr2	159065911	159065911	A	G	exonic	TANC1	.	startloss	TANC1:NM_001145909:exon3:c.A1G:p.M1?,TANC1:NM_001350062:exon3:c.A1G:p.M1?,TANC1:NM_001350063:exon3:c.A1G:p.M1?,TANC1:NM_001350064:exon3:c.A1G:p.M1?,TANC1:NM_033394:exon3:c.A1G:p.M1?,TANC1:NM_001350065:exon4:c.A1G:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.590	0.393636820189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.02	0.58613	D	0.713	0.42139	P	0.761	0.56482	P	0.000585	0.43095	D	0.165528	0.999987	0.81001	D	.	.	.	-0.48	0.70249	T	-0.74	0.20791	N	0.967	0.97750	0.194	0.85808	D	0.565	0.84216	D	9	0.9303113	0.92372	D	0.393637	0.93244	D	0.590	0.83636	0.714	0.84962	0.740005560949	0.73767	0.11963488415654328	0.11890	.	.	.	.	.	0.108722	0.42200	T	0.360862	0.87320	D	0.280577	0.87156	D	0.990335702896118	0.80552	D	0.9	0.65058	D	0.80117404	0.83980	0.6641435	0.80311	0.80117404	0.83982	0.6641435	0.80312	-2.556	0.06176	T	.	.	.	.	.	.	.	3.267190	0.44703	22.0	0.98969287046710375	0.49501	0.97419	0.74630	D	AEFDBI	0.064732	0.12586	N	0.572950704111807	0.71488	5.658786	0.613445888615954	0.75917	6.39589	0.999999998671287	0.74766	0.645754	0.44609	0	0.588066	0.40923	0	0.675528	0.61593	0	0.723	0.93126	0	.	.	5.48	5.48	0.80675	6.073000	0.70878	11.285000	0.91876	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	14.427	0.66793	805	0.43675	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	224.83	22	chr2	159065911	.	A	G	224.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.535;DP=162;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.49;ReadPosRankSum=-0.991;SOR=0.783	GT:AD:DP:GQ:PL	0/1:19,11:30:99:235,0,518	5	0	1	0
chr2	159229781	159229781	A	C	exonic	TANC1	.	nonsynonymous SNV	TANC1:NM_001350062:exon24:c.A3752C:p.D1251A,TANC1:NM_001350063:exon25:c.A3986C:p.D1329A,TANC1:NM_001350064:exon27:c.A4334C:p.D1445A,TANC1:NM_033394:exon27:c.A4355C:p.D1452A,TANC1:NM_001350065:exon28:c.A4334C:p.D1445A	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.03919538197	.	0.000199681	0.0003	0	0	0	0	2.998e-05	0	0.0018	0.0002135	33	154602	rs573688021	0.0001	0.0001	0.0001	0.0002	0.0016	0.0001	0.0001	0.0014	0.0013	0	0	0	0	0	0	6.025e-05	0.0001	0.0016	5.264e-05	5.253e-05	2.574e-05	8.076e-05	0.0010	2.56e-05	1.832e-05	0.0004	0.0003	0	0	0	0	0	0	0	4.413e-05	0	0.0010	0.014	0.53172	D	0.041	0.50514	D	0.666	0.41077	P	0.112	0.31615	B	0.000027	0.55875	D	0.155728	0.62186	0.33313	D	1.7	0.43825	L	-0.46	0.70014	T	-2.53	0.54864	D	0.328	0.36884	-0.6324	0.63468	T	0.168	0.50713	T	9	0.0200575	0.00456	T	0.039195	0.58670	D	0.274	0.59007	0.155	0.05858	0.622170985595	0.61910	0.43336210194239616	0.43253	0.237743367185	0.26321	0.419932305813	0.27826	T	0.168052	0.51491	T	-0.269731	0.11786	T	-0.190305	0.55562	T	0.0812297477490976	0.10144	T	0.664534	0.27348	T	0.18859491	0.40365	0.12002895	0.28970	0.18859491	0.40364	0.12002895	0.28969	-4.696	0.33355	T	.	.	0.091	0.12891	B	.	.	2.010253	0.25543	16.80	0.9881716923363999	0.46720	0.99577	0.97626	D	AEFDBI	0.581003	0.58119	D	0.131960438870726	0.47958	3.014425	0.23263632416636	0.51667	3.347274	0.999999997013869	0.74766	0.67177	0.52595	0	0.588066	0.40923	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	5.92	5.92	0.95557	2.686000	0.46634	9.311000	0.79959	0.756000	0.94297	0.951000	0.33123	1.000000	0.68203	0.029000	0.12982	0.9289:0.0:0.071:0.0	10.660	0.44890	652	0.62785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.08333	1505.83	35	chr2	159229781	.	A	C	1505.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.63;DP=286;ExcessHet=0;FS=4.876;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=-0.897;SOR=0.757	GT:AD:DP:GQ:PL	0/1:48,56:104:99:1516,0,1205	5	0	1	0
chr2	164694618	164694618	G	A	exonic	COBLL1	.	nonsynonymous SNV	COBLL1:NM_001278461:exon11:c.C2774T:p.S925F,COBLL1:NM_001278460:exon12:c.C2912T:p.S971F,COBLL1:NM_001365670:exon12:c.C2909T:p.S970F,COBLL1:NM_001365672:exon12:c.C2774T:p.S925F,COBLL1:NM_001365673:exon12:c.C2774T:p.S925F,COBLL1:NM_014900:exon12:c.C2888T:p.S963F,COBLL1:NM_001365671:exon13:c.C2951T:p.S984F,COBLL1:NM_001365674:exon13:c.C2813T:p.S938F,COBLL1:NM_001365675:exon13:c.C2813T:p.S938F,COBLL1:NM_001278458:exon15:c.C3089T:p.S1030F	.	429	1065	28	0	0	28	0.012975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	0.0007	0.0113818	0.0053	0	0.0010	0.0285	0	0.0011	0.0033	0.0187	0.0049094	759	154602	rs139834711	0.0027	0.0027	0.0022	0.0032	0.0220	0.0027	0.0026	0.0208	0.0203	0.0002	0.0006	0.0009	0.0220	1.873e-05	0.0040	0.0011	0.0040	0.0177	0.0023	0.0023	0.0020	0.0027	0.0281	0.0021	0.0020	0.0243	0.0229	0.0002	0	0.0007	0.0009	0.0281	9.423e-05	0.0068	0.0010	0.0033	0.0218	0.37	0.11550	T	0.187	0.28958	T	0.007	0.14184	B	0.004	0.10090	B	0.083814	0.02382	N	1.790450	1	0.08975	N	1.245	0.31408	L	.	.	.	-3.06	0.63090	D	0.102	0.12913	-1.0796	0.07426	T	0.045	0.19234	T	9	0.002996415	0.00049	T	.	.	.	0.054	0.15330	.	.	0.258283824007	0.25425	0.1673364255181345	0.16653	0.0553219456686	0.06117	0.243705034256	0.03133	T	0.037908	0.25130	T	-0.606278	0.00133	T	-0.619968	0.11187	T	0.00753872559726111	0.00087	T	0.80472	0.45238	T	0.052991092	0.09962	0.071185134	0.15215	0.052991092	0.09962	0.071185134	0.15214	-4.632	0.32571	T	.	.	0.114	0.22500	B	.;.;.;.	.;.;.;.	0.549563	0.09179	5.964	0.37114367526788122	0.02426	0.05162	0.10977	N	AEFDBHCI	0.111471	0.22069	N	-0.902599631663384	0.10780	0.5169067	-0.962722654040304	0.10629	0.5365492	0.999995796717324	0.74766	0.562547	0.31514	0	0.573888	0.26702	0	0.467745	0.07146	0	0.635551	0.53088	0	.	.	5.41	-0.307	0.12143	0.081000	0.14677	1.559000	0.27344	0.676000	0.76740	0.000000	0.06391	0.001000	0.17328	0.055000	0.15596	0.3256:0.2795:0.3949:0.0	5.407	0.15626	874	0.30607	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.000000	0.002717	0.002924	0.000000	0.000000	0.006098	0.015152	0.08333	1034.83	37	chr2	164694618	.	G	A	1034.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.03;DP=242;ExcessHet=0;FS=4.86;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.68;ReadPosRankSum=1.25;SOR=0.609	GT:AD:DP:GQ:PL	0/1:27,39:66:99:1045,0,694	5	0	1	0
chr2	170852781	170852781	G	T	exonic	GAD1	.	nonsynonymous SNV	GAD1:NM_000817:exon13:c.G1252T:p.V418F	.	0	1505	15	1	1	18	0.00561612	.	.	.	285646	not_provided|Neurodevelopmental_disorder_with_progressive_spasticity_and_brain_white_matter_abnormalities|Inborn_genetic_diseases|GAD1-related_disorder|Hereditary_spastic_paraplegia	MedGen:C3661900|MONDO:MONDO:0033613,MedGen:C5436628,OMIM:619026,Orphanet:210141,Orphanet:641353|MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.261	0.0396181188737	.	0.00139776	0.0006	0.0005	0.0003	0	0.0006	0.0007	0.0011	0.0008	0.0005821	90	154602	rs143058194	0.0004	0.0004	0.0004	0.0004	0.0049	0.0004	0.0004	0.0034	0.0030	0.0013	0.0008	0	2.519e-05	0.0004	0.0049	0.0003	0.0012	0.0010	0.0010	0.0010	0.0009	0.0011	0.0036	0.0009	0.0008	0.0028	0.0026	0.0011	0	0.0036	0	0.0002	0.0004	0	0.0005	0.0043	0.0019	0.392	0.10766	T	0.338	0.18125	T	0.983	0.60381	D	0.946	0.68276	D	0.000884	0.41231	D	0.243493	0.999935	0.51612	D	1.755	0.45626	L	0.9	0.45248	T	-0.15	0.09297	N	0.834	0.82964	-0.9186	0.45743	T	0.143	0.46422	T	10	0.19945809	0.35955	T	0.039618	0.58911	D	0.261	0.57352	.	.	0.857758316545	0.85638	0.9406694121886269	0.94047	1.62337499068	0.89093	0.46767115593	0.34360	T	0.286017	0.65880	T	-0.262774	0.12578	T	-0.209425	0.53750	T	0.0248542474123744	0.01253	T	0.958604	0.84374	D	0.34145865	0.56396	0.080097124	0.18091	0.33693433	0.56034	0.07277248	0.15737	-9.078	0.68197	D	0.1892777638911215	0.24753	0.209	0.43680	B	.	.	3.382320	0.46789	22.4	0.9825612410250999	0.39621	0.91298	0.53252	D	AEFDBI	0.268318	0.38484	N	0.144387257252125	0.48546	3.066	0.130135011612821	0.46098	2.861411	0.280740583474554	0.18986	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.530356	0.10902	0	.	.	5.91	3.15	0.35301	1.754000	0.37998	3.525000	0.38921	-1.503000	0.01026	0.994000	0.38300	1.000000	0.68203	0.859000	0.40722	0.1949:0.115:0.5715:0.1185	3.329	0.06664	448	0.79501	Pyridoxal-phosphate binding site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1393.83	34	chr2	170852781	.	G	T	1393.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.99;DP=253;ExcessHet=0;FS=3.079;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.42;ReadPosRankSum=-0.572;SOR=0.416	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,37:80:99:0|1:170852780_C_T:1404,0,1679:170852780	5	0	1	0
chr2	176130926	176130926	C	T	exonic	HOXD8	.	nonsynonymous SNV	HOXD8:NM_001199746:exon1:c.C560T:p.P187L,HOXD8:NM_019558:exon1:c.C560T:p.P187L,HOXD8:NM_001199747:exon2:c.C8T:p.P3L	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.590	0.48524453368	0.0009	0.000998403	0.0008	0	0.0010	0	0.0020	0.0010	0.0011	6.396e-05	0.0008473	131	154602	rs142220242	0.0013	0.0013	0.0014	0.0012	0.0015	0.0013	0.0012	0.0014	0.0014	0.0002	0.0005	0.0011	0	0.0020	0	0.0015	0.0014	2.373e-05	0.0008	0.0008	0.0010	0.0007	0.0012	0.0007	0.0007	0.0010	0.0009	0.0002	0	0.0007	0.0012	0	0.0020	0	0.0012	0.0005	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.981	0.75168	D	0.000021	0.55875	D	0.000000	1	0.81001	D	2.71	0.79292	M	-3.19	0.93170	D	-7.47	0.97699	D	0.511	0.55713	0.936	0.96187	D	0.885	0.96182	D	10	0.055609345	0.06105	T	0.485245	0.94908	D	0.590	0.83636	.	.	0.942284570467	0.94168	0.836362529422848	0.83596	.	.	0.798071980476	0.81669	T	0.511751	0.82752	D	-0.00664833	0.50734	T	0.212747	0.83806	D	0.571990311145782	0.35310	D	0.979402	0.92878	D	0.76886374	0.81980	0.7512002	0.85294	0.76886374	0.81982	0.7512002	0.85295	-10.875	0.78968	D	.	.	0.865	0.80642	P	.;.;.;.	.;.;.;.	5.804476	0.93629	33	0.99735590173412803	0.83119	0.99299	0.94153	D	AEFDBCIJ	0.913994	0.87675	D	0.616107724416088	0.74191	6.091222	0.568669405707575	0.72707	5.852308	0.999999999819665	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.56214	0.19341	0	.	.	4.63	3.75	0.42236	7.899000	0.85994	7.530000	0.59902	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.9207:0.0:0.0793	12.949	0.57787	526	0.73951	Homeobox protein, antennapedia type, conserved site;Homeobox protein, antennapedia type, conserved site;Homeobox protein, antennapedia type, conserved site;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	793.83	38	chr2	176130926	.	C	T	793.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.65;DP=261;ExcessHet=0;FS=0.904;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=-0.424;SOR=0.866	GT:AD:DP:GQ:PL	0/1:39,33:72:99:804,0,856	5	0	1	0
chr2	178014328	178014328	C	T	exonic	PDE11A	.	nonsynonymous SNV	PDE11A:NM_016953:exon2:c.G1045A:p.A349T,PDE11A:NM_001077197:exon3:c.G295A:p.A99T	Pigmented nodular adrenocortical disease, primary, 2, Autosomal dominant	1	1518	3	0	0	3	0.000987167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0112184146368	0.0028	0.000599042	0.0017	0.0005	0.0004	0	0.0002	0.0026	0.0011	0.0012	0.0018305	283	154602	rs77477862	0.0029	0.0030	0.0029	0.0030	0.0035	0.0029	0.0028	0.0034	0.0034	0.0002	0.0006	0.0035	0	0.0002	0.0005	0.0035	0.0020	0.0015	0.0018	0.0018	0.0018	0.0017	0.0029	0.0016	0.0015	0.0026	0.0024	0.0006	0	0.0008	0.0049	0	0.0004	0	0.0029	0.0038	0.0021	0.511	0.08762	T	0.567	0.10429	T	0.002	0.09854	B	0.008	0.13708	B	0.016205	0.28038	N	0.398073	0.997988	0.44386	D	0.09	0.08384	N	-0.3	0.67874	T	-0.46	0.14978	N	0.21	0.24010	-0.9790	0.35231	T	0.139	0.45697	T	10	0.011165619	0.00245	T	0.011218	0.28621	T	0.075	0.21907	.	.	0.655301966297	0.65242	0.3022656408861793	0.30139	0.220961154658	0.24644	0.437279999256	0.30205	T	0.080397	0.36353	T	-0.518921	0.00446	T	-0.51708	0.20591	T	0.00659666251593238	0.00074	T	0.762524	0.38803	T	0.09865876	0.23273	0.099505834	0.23760	0.105015196	0.24828	0.1039807	0.24961	-3.653	0.18627	T	.	.	0.062	0.01252	B	.;.	.;.	2.413645	0.31030	18.62	0.96270287091572204	0.29247	0.94635	0.61812	D	AEFI	0.672565	0.63892	D	-0.237479006874058	0.31607	1.77394	-0.00316175152486224	0.39574	2.348407	0.138568612523989	0.17229	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.5	4.61	0.56724	3.342000	0.51877	.	.	0.549000	0.26987	1.000000	0.71638	0.998000	0.33993	0.986000	0.61781	0.0:0.923:0.0:0.077	13.178	0.59057	491	0.76657	GAF domain|GAF domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1319.83	34	chr2	178014328	.	C	T	1319.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.013;DP=302;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=0.835;SOR=0.695	GT:AD:DP:GQ:PL	0/1:72,59:131:99:1330,0,1885	5	0	1	0
chr2	178661797	178661797	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_001267550:exon180:c.C37247T:p.S12416L	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	10	1507	4	1	0	6	0.00198675	.	.	.	189639	Early-onset_myopathy_with_fatal_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Tibial_muscular_dystrophy|not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G	MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.004	0.00247541387225	0.0016	.	0.0013	0.0015	0.0005	0.0006	0.0011	0.0017	0.0034	0.0003	0.0001035	16	154602	rs370765948	0.0014	0.0020	0.0013	0.0015	0.0015	0.0013	0.0013	0.0015	0.0014	0.0011	0.0006	0.0008	0.0005	0.0021	0.0002	0.0015	0.0013	0.0004	0.0019	0.0021	0.0021	0.0018	0.0026	0.0018	0.0017	0.0023	0.0021	0.0013	0	0.0018	0.0003	0.0010	0.0028	0	0.0026	0.0010	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.01	0.62459	T	.	.	.	0.047	0.01911	-1.0141	0.25625	T	0.037	0.16073	T	7	0.011146307	0.00245	T	0.002475	0.04896	T	.	.	.	.	0.152612264143	0.14878	.	.	0.0743692427057	0.08337	.	.	.	.	.	.	-0.308906	0.07845	T	-0.681499	0.06893	T	0.00264863204210997	0.00028	T	0.206179	0.02447	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.184421	0.00547	0.013	0.43198612314165835	0.03236	0.00293	0.01568	N	AEFI	0.035570	0.04600	N	-1.60519401715121	0.01239	0.05388386	-1.71156501230598	0.01087	0.04882428	0.0827794792527427	0.15909	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.46	-5.51	0.02366	-2.409000	0.01119	.	.	-1.499000	0.01032	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4586:0.0:0.227:0.3144	3.748	0.08080	432	0.80690	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08333	333.83	33	chr2	178661797	.	G	A	333.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.66;DP=212;ExcessHet=0;FS=1.534;MLEAC=1;MLEAF=0.083;MQ=34.89;MQRankSum=-0.943;QD=8.35;ReadPosRankSum=0.589;SOR=0.399	GT:AD:DP:GQ:PL	0/1:23,17:40:99:344,0,549	5	0	1	0
chr2	178731827	178731827	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon55:c.A13316G:p.Y4439C,TTN:NM_001256850:exon56:c.A16097G:p.Y5366C,TTN:NM_001267550:exon58:c.A17048G:p.Y5683C	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1509	12	0	0	12	0.0039604	.	.	.	55786	Brugada_syndrome|Cardiovascular_phenotype|Early-onset_myopathy_with_fatal_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|TTN-related_disorder|Cardiomyopathy|not_specified|Tibial_muscular_dystrophy|not_provided|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J	MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|.|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.421	0.0762178323699	0.0056	0.00199681	0.0058	0.0019	0.0019	0.0002	0.0023	0.0086	0.0044	0.0044	0.0058667	907	154602	rs72648942	0.0069	0.0069	0.0069	0.0070	0.0077	0.0068	0.0068	0.0076	0.0075	0.0013	0.0021	0.0096	5.039e-05	0.0040	0.0028	0.0077	0.0059	0.0064	0.0047	0.0047	0.0048	0.0046	0.0075	0.0044	0.0043	0.0069	0.0067	0.0013	0	0.0033	0.0081	0.0002	0.0050	0.0034	0.0075	0.0009	0.0035	0.106	0.29688	T	.	.	.	0.035	0.20614	B	0.037	0.23121	B	.	.	.	.	1	0.81001	D	.	.	.	-0.39	0.69158	T	-4.81	0.80767	D	0.364	0.42834	-0.7021	0.60338	T	0.233	0.59904	T	9	0.007775426	0.00177	T	0.076218	0.72479	D	0.421	0.73005	.	.	0.197625483188	0.19356	.	.	0.114869149133	0.12958	0.536030173302	0.43886	T	.	.	.	-0.326411	0.06387	T	-0.228669	0.51901	T	0.0519606309067609	0.05841	T	0.686231	0.40326	T	.	.	.	.	.	.	.	.	-6.539	0.50648	T	.	.	0.217	0.44682	B	.;.;.;.	.;.;.;.	2.318627	0.29686	18.20	0.35224080168223454	0.02199	0.97659	0.76220	D	AEBI	0.805865	0.73033	D	-0.679438391223224	0.16609	0.8477064	-0.580075148853372	0.20013	1.076351	0.995725753796857	0.34289	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.17	3.8	0.42887	5.161000	0.64780	.	.	-0.695000	0.04090	1.000000	0.71638	0.999000	0.35428	0.788000	0.37229	0.1046:0.0592:0.0:0.8362	10.476	0.43850	341	0.85936	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.017241	0.000000	0.003788	0.08333	1254.83	34	chr2	178731827	.	T	C	1254.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.38;DP=311;ExcessHet=0;FS=6.583;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=-0.067;SOR=0.969	GT:AD:DP:GQ:PL	0/1:49,46:95:99:1265,0,1274	5	0	1	0
chr2	178739988	178739988	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon45:c.C12156G:p.F4052L,TTN:NM_001256850:exon46:c.C12294G:p.F4098L,TTN:NM_133432:exon46:c.C12531G:p.F4177L,TTN:NM_133437:exon46:c.C12732G:p.F4244L,TTN:NM_001267550:exon48:c.C13245G:p.F4415L	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.0145561003063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.06585	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.61	0.56114	T	-2.18	0.49187	N	0.385	0.42639	-1.0367	0.18326	T	0.081	0.31854	T	9	0.12116364	0.22962	T	0.014556	0.34757	T	0.158	0.41098	0.357	0.35897	0.270447802918	0.26645	.	.	0.0979166354652	0.11043	0.582357227802	0.50417	T	.	.	.	-0.138725	0.30095	T	-0.437046	0.29140	T	0.136046037077904	0.15929	T	0.694731	0.39255	T	.	.	.	.	.	.	.	.	-2.006	0.03203	T	.	.	0.861	0.80376	P	.;.;.;.;.;.	.;.;.;.;.;.	1.877291	0.23844	16.17	0.94703843383265762	0.25358	0.82640	0.41840	D	AEFBI	0.713025	0.66596	D	-0.337109467510558	0.27749	1.524953	-0.164992495268799	0.32835	1.872077	0.933732138168494	0.27142	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.56	3.76	0.42368	0.225000	0.17538	.	.	0.676000	0.76740	0.861000	0.30630	1.000000	0.68203	0.958000	0.51230	0.3095:0.0:0.4967:0.1938	2.961	0.05532	341	0.85936	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1240.83	33	chr2	178739988	.	G	C	1240.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.42;DP=283;ExcessHet=0;FS=6.945;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=0.931;SOR=1.391	GT:AD:DP:GQ:PL	0/1:45,43:88:99:1251,0,1104	5	0	1	0
chr2	186504215	186504215	G	A	splicing	ZC3H15	NM_018471:exon6:c.717+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59e-06	3.296e-05	1.582e-06	1.598e-06	1.463e-05	2.6e-07	1e-07	.	.	0	0	0	0	2.117e-05	0	0	0	1.463e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36496	0.87625	D	0.286463	0.87465	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.078213	0.96114	35	0.99490046545528399	0.67403	0.99024	0.90115	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	412.91	.	chr2	186504215	.	G	A	412.91	.	AC=3;AF=0.375;AN=8;BaseQRankSum=1.72;DP=269;ExcessHet=4.1913;FS=98.8;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=2.35;ReadPosRankSum=2.31;SOR=7.67	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:17,18:45:93:.:.:151,0,147:.	1	0	3	2
chr2	189004366	189004366	T	G	splicing	COL3A1	NM_000090:exon40:c.2931+2T>G	.	.	Ehlers-Danlos syndrome, type IV, Autosomal dominant	.	.	.	.	.	.	.	0.9999	0.94	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.071314	0.84579	28.4	0.99403163697474095	0.62887	0.99641	0.98258	D	AEFBI	.	.	.	1.01859050287191	0.96289	14.51728	0.829447203960995	0.91760	11.05372	0.999942028997608	0.47345	0.053691	0.00478	0	0.063388	0.01293	0	0.063197	0.01477	0	0.062806	0.01542	0	0.958456	0.64601	4.98	4.98	0.65679	3.855000	0.55666	5.964000	0.51876	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.678000	0.33484	0.0:0.0:0.0:1.0	14.846	0.69892	839	0.37672	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	31.95	31	chr2	189004366	.	T	G	31.95	.	AC=1;AF=0.167;AN=6;BaseQRankSum=1.1;DP=133;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=2.9;ReadPosRankSum=1.1;SOR=0.368	GT:AD:DP:GQ:PL	0/1:9,2:11:39:39,0,159	2	0	1	3
chr2	190437203	190437203	C	T	exonic	MFSD6	.	nonsynonymous SNV	MFSD6:NM_001375987:exon2:c.C1174T:p.R392C,MFSD6:NM_001375989:exon2:c.C1174T:p.R392C,MFSD6:NM_001375990:exon2:c.C1174T:p.R392C,MFSD6:NM_001375986:exon3:c.C1174T:p.R392C,MFSD6:NM_001375988:exon3:c.C1174T:p.R392C,MFSD6:NM_001375992:exon3:c.C1174T:p.R392C,MFSD6:NM_017694:exon3:c.C1174T:p.R392C	.	435	1083	4	0	0	4	0.00184332	.	.	.	3446711	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.420	0.0680465331112	7.7e-05	.	7.416e-05	9.612e-05	8.645e-05	0	0	0.0001	0	0	9.7e-05	15	154602	rs368765746	6.635e-05	6.635e-05	6.534e-05	6.738e-05	0.0029	5.561e-05	5.152e-05	0.0019	0.0015	8.961e-05	0.0003	0	7.557e-05	0	0.0029	4.586e-05	0.0001	0	6.57e-05	6.567e-05	6.423e-05	6.723e-05	0.0001	3.516e-05	2.616e-05	5.841e-05	4.238e-05	2.413e-05	0	6.545e-05	0	0	0	0	0.0001	0	0	0.01	0.56456	D	0.008	0.67890	D	0.998	0.73220	D	0.613	0.51171	P	0.000224	0.47286	D	0.217162	0.997102	0.43633	D	1.39	0.34934	L	-1.58	0.81987	D	-3.12	0.63782	D	0.332	0.37301	-0.1257	0.79502	T	0.441	0.77909	T	10	0.39671633	0.55279	T	0.068047	0.70339	D	0.420	0.72930	.	.	0.723527460954	0.72108	0.7873653540548109	0.78688	1.12360715339	0.78375	0.402991592884	0.25486	T	0.062561	0.31948	T	-0.118679	0.33341	T	-0.106529	0.62886	T	0.226155827918212	0.21767	T	0.943606	0.78679	D	0.10353159	0.24472	0.11786497	0.28451	0.10353159	0.24472	0.11786497	0.28450	-7.862	0.60126	D	.	.	0.113	0.22464	B	.;.	.;.	5.372535	0.90062	31	0.9992037126755613	0.98721	0.98231	0.80757	D	AEFBI	0.704587	0.66026	D	0.437868019542799	0.63519	4.587095	0.538613041112904	0.70608	5.530416	0.999999665565703	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	6.16	6.16	0.99302	3.547000	0.53416	7.720000	0.67265	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:1.0:0.0:0.0	19.848	0.96719	696	0.58299	Major facilitator superfamily associated domain;Major facilitator superfamily associated domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2043.83	34	chr2	190437203	.	C	T	2043.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.997;DP=430;ExcessHet=0;FS=6.279;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.5;ReadPosRankSum=-0.44;SOR=0.508	GT:AD:DP:GQ:PL	0/1:58,83:141:99:2054,0,1415	5	0	1	0
chr2	195897720	195897720	T	C	exonic	DNAH7	.	nonsynonymous SNV	DNAH7:NM_018897:exon29:c.A4594G:p.I1532V	.	489	1028	5	0	0	5	0.00242601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	.	.	0.0117812	0.0053	0	0.0003	0.0137	0	0.0003	0.0022	0.0297	0.0046507	719	154602	rs139274808	0.0020	0.0020	0.0013	0.0026	0.0251	0.0019	0.0019	0.0242	0.0238	3.033e-05	2.297e-05	3.87e-05	0.0090	1.879e-05	0.0021	0.0002	0.0035	0.0251	0.0015	0.0015	0.0011	0.0019	0.0284	0.0014	0.0013	0.0245	0.0230	7.38e-05	0	0.0003	0	0.0135	0	0.0034	0.0002	0.0024	0.0284	0.03	0.45393	D	.	.	.	0.998	0.73220	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.49	0.72568	M	1.9	0.23486	T	-0.94	0.25118	N	0.608	0.62526	-0.9657	0.38073	T	0.115	0.40786	T	10	0.0071324706	0.00162	T	.	.	.	0.171	0.43483	.	.	0.489449420884	0.48578	0.32496646133411633	0.32409	0.145879884448	0.16476	0.68594700098	0.65123	T	0.028318	0.20539	T	-0.412568	0.01912	T	-0.354371	0.38702	T	0.0680273783062483	0.08371	T	0.953705	0.82322	D	0.22089803	0.44655	0.20728335	0.44980	0.22089803	0.44655	0.20728335	0.44979	-7.907	0.60435	D	.	.	0.127	0.26978	B	.	.	3.732384	0.53402	23.4	0.99918361825095703	0.98586	0.97077	0.72555	D	AEFBI	0.805554	0.73011	D	0.720277453289721	0.80960	7.412028	0.717982659884083	0.83744	8.102917	0.999922993960766	0.46280	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.92	5.92	0.95557	5.109000	0.64456	5.031000	0.46827	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	16.024	0.80333	915	0.20917	.	.	.	.	.	rs139274808	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.000000	0.011696	0.000000	0.000000	0.000000	0.007576	0.08333	806.83	28	chr2	195897720	.	T	C	806.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.196;DP=230;ExcessHet=0;FS=5.163;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=-0.107;SOR=0.297	GT:AD:DP:GQ:PL	0/1:25,34:59:99:817,0,546	5	0	1	0
chr2	205615460	205615460	G	C	exonic	PARD3B	.	nonsynonymous SNV	PARD3B:NM_057177:exon22:c.G3058C:p.G1020R,PARD3B:NM_152526:exon22:c.G3079C:p.G1027R,PARD3B:NM_205863:exon22:c.G2962C:p.G988R,PARD3B:NM_001302769:exon23:c.G3265C:p.G1089R	.	416	1101	5	0	0	5	0.00226552	.	.	.	2266491	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.186	0.016244658253	0.0002	0.000399361	0.0005	0.0002	0.0007	0	0	0.0007	0.0012	0	0.0004851	75	154602	rs193187748	0.0004	0.0004	0.0004	0.0004	0.0011	0.0003	0.0003	0.0009	0.0008	6.12e-05	0.0011	4.104e-05	0	3.795e-05	0.0011	0.0004	0.0004	7.277e-05	0.0004	0.0004	0.0003	0.0005	0.0016	0.0003	0.0003	0.0011	0.0010	4.814e-05	0	0.0016	0	0	0.0002	0	0.0004	0	0.0004	0.004	0.72154	D	0.011	0.64786	D	1.0	0.90584	D	0.999	0.92359	D	0.000633	0.42799	N	0.105398	0.911437	0.36422	D	2.57	0.75187	M	2.59	0.15843	T	-1.98	0.46146	N	0.53	0.73826	-0.9123	0.46569	T	0.104	0.38169	T	10	0.036987484	0.02027	T	0.016245	0.37414	T	0.186	0.46104	0.247	0.18293	0.469826472337	0.46610	0.31798902244741967	0.31711	0.19097760818	0.21418	0.599527895451	0.52837	T	0.010219	0.25277	T	-0.385048	0.02894	T	-0.376312	0.36154	T	0.0785529174815552	0.09801	T	0.945305	0.79188	D	0.09247276	0.21695	0.13827808	0.33028	0.09247276	0.21694	0.13827808	0.33028	-2.049	0.05053	T	.	.	0.246	0.48018	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.341217	0.46043	22.2	0.99555551238193229	0.71397	0.96227	0.68120	D	AEFBI	0.631197	0.61226	D	-0.0796649417544212	0.38284	2.239974	-0.0640798595359811	0.36887	2.152511	0.912262265444728	0.26390	0.623552	0.39893	0	0.59043	0.45803	0	0.602189	0.34648	0	0.579976	0.35079	0	.	.	6.07	4.29	0.50359	5.833000	0.69056	5.790000	0.49863	-0.642000	0.04431	1.000000	0.71638	1.000000	0.68203	0.000000	0.00833	0.1242:0.0:0.8758:0.0	13.191	0.59132	882	0.29131	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.08333	827.83	34	chr2	205615460	.	G	C	827.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.765;DP=243;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=0.824;SOR=0.843	GT:AD:DP:GQ:PL	0/1:31,31:62:99:838,0,938	5	0	1	0
chr2	206009583	206009583	T	C	exonic	INO80D	.	nonsynonymous SNV	INO80D:NM_017759:exon9:c.A1754G:p.H585R	.	427	1084	11	0	0	11	0.00504819	.	.	.	697261	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.076	.	0.0071	0.00139776	0.0068	0.0014	0.0027	0	0.0153	0.0098	0.0078	0.0006	0.0065458	1012	154602	rs144598064	0.0080	0.0080	0.0080	0.0079	0.0097	0.0078	0.0078	0.0087	0.0086	0.0011	0.0038	0.0093	2.52e-05	0.0153	0.0097	0.0088	0.0073	0.0007	0.0086	0.0086	0.0080	0.0091	0.0118	0.0082	0.0080	0.0112	0.0109	0.0013	0.1075	0.0042	0.0110	0.0002	0.0212	0.0034	0.0118	0.0043	0.0010	0.586	0.05881	T	0.667	0.06365	T	0.0	0.02946	B	0.0	0.01387	B	0.198942	0.16650	N	0.655303	0.999969	0.18878	N	0.55	0.14455	N	1.54	0.30133	T	-0.97	0.25770	N	0.027	0.00571	-1.0057	0.28247	T	0.025	0.10777	T	10	0.0025288165	0.00038	T	.	.	.	0.076	0.22200	.	.	0.043077524339	0.03247	0.07182252728062584	0.07119	0.784832105031	0.65468	0.308417022228	0.11667	T	.	.	.	-0.679744	0.00048	T	-0.735556	0.04080	T	0.00176428672020891	0.00018	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00625	B	.	.	1.317035	0.17209	13.02	0.64866371886898355	0.07612	0.61749	0.31576	D	AEFBI	0.054014	0.09785	N	-0.945326735392604	0.09798	0.4653177	-0.866453346636752	0.12892	0.6658287	0.117059824760342	0.16792	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.8	-0.695	0.10723	1.959000	0.40036	0.555000	0.19457	-0.120000	0.14102	1.000000	0.71638	0.954000	0.29108	0.526000	0.29613	0.0:0.2813:0.1337:0.585	5.579	0.16523	638	0.64280	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003535	0.000000	0.001359	0.002959	0.000000	0.008621	0.003049	0.015152	0.08333	727.83	33	chr2	206009583	.	T	C	727.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.881;DP=205;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.93;ReadPosRankSum=0.353;SOR=0.548	GT:AD:DP:GQ:PL	0/1:16,27:43:99:738,0,380	5	0	1	0
chr2	206176878	206176878	T	C	exonic	GPR1	.	nonsynonymous SNV	GPR1:NM_001098199:exon3:c.A370G:p.S124G,GPR1:NM_001261454:exon3:c.A370G:p.S124G,GPR1:NM_001261455:exon3:c.A370G:p.S124G,GPR1:NM_005279:exon3:c.A370G:p.S124G,GPR1:NM_001261452:exon4:c.A370G:p.S124G,GPR1:NM_001261453:exon4:c.A370G:p.S124G	.	421	1091	10	0	0	10	0.00456204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.703	.	0.0064	0.00159744	0.0061	0.0013	0.0025	0	0.0150	0.0087	0.0077	0.0005	0.0059831	925	154602	rs138365581	0.0074	0.0074	0.0075	0.0074	0.0092	0.0073	0.0073	0.0081	0.0081	0.0011	0.0037	0.0069	0	0.0148	0.0092	0.0083	0.0064	0.0007	0.0080	0.0080	0.0073	0.0087	0.0108	0.0076	0.0074	0.0102	0.0099	0.0013	0.1075	0.0039	0.0072	0.0002	0.0209	0	0.0108	0.0043	0.0010	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.02	0.86243	M	0.59	0.53943	T	-3.97	0.74051	D	0.893	0.93959	-0.3009	0.74960	T	0.298	0.66914	T	10	0.012977749	0.00277	T	.	.	.	0.703	0.89330	.	.	0.755102455759	0.75288	0.8912139918777888	0.89091	0.151885615318	0.17145	0.560574293137	0.47349	T	0.129223	0.45737	T	-0.0245722	0.48198	T	0.204901	0.83393	D	0.0213724906758188	0.00840	T	.	.	.	0.82972604	0.85883	0.82349724	0.89764	0.82972604	0.85884	0.82349724	0.89764	-8.391	0.63706	D	.	.	0.324	0.54890	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.617720	0.73299	26.0	0.9982713480748433	0.90939	0.98798	0.86991	D	AEFDBI	0.937266	0.93481	D	0.853602016231925	0.89314	9.920547	0.826704792878577	0.91586	10.96202	0.999999998353524	0.74766	0.615755	0.39536	0	0.573888	0.26702	0	0.602189	0.34648	0	0.526803	0.08958	0	.	.	5.84	5.84	0.93373	7.885000	0.85782	7.758000	0.68250	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	16.231	0.82165	717	0.55835	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.001359	0.002924	0.000000	0.008621	0.006098	0.011364	0.08333	827.83	36	chr2	206176878	.	T	C	827.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.495;DP=387;ExcessHet=0;FS=1.958;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=1.36;SOR=0.537	GT:AD:DP:GQ:PL	0/1:37,35:72:99:838,0,1162	5	0	1	0
chr2	206308643	206308643	A	G	exonic	ZDBF2	.	nonsynonymous SNV	ZDBF2:NM_020923:exon5:c.A4115G:p.D1372G,ZDBF2:NM_001369654:exon6:c.A4115G:p.D1372G,ZDBF2:NM_001285549:exon7:c.A4109G:p.D1370G	.	.	.	.	.	.	.	.	.	.	.	2286579	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.0121377284832	.	.	5.832e-05	0	0.0003	0	0	4.522e-05	0.0011	0	4.53e-05	7	154602	rs747341384	4.999e-05	4.994e-05	4.769e-05	5.231e-05	0.0014	4.063e-05	3.738e-05	0.0007	0.0005	2.987e-05	0.0003	0	0	0	0.0014	3.958e-05	9.94e-05	0	2.629e-05	2.627e-05	2.57e-05	2.691e-05	0.0002	8.14e-06	5.14e-06	5.289e-05	2.836e-05	0	0	0.0002	0	0	0	0	1.47e-05	0	0	0.121	0.27783	T	0.106	0.37872	T	0.675	0.41275	P	0.186	0.36104	B	.	.	.	.	1	0.08975	N	2.175	0.60977	M	0.58	0.54149	T	-3.5	0.68178	D	0.066	0.06720	-1.0398	0.17374	T	0.103	0.38069	T	9	0.099188596	0.17983	T	0.012138	0.30444	T	0.045	0.12272	0.157	0.06070	0.305730143919	0.30178	0.07278984605443199	0.07215	0.224327558168	0.24967	0.276559889317	0.07018	T	0.028315	0.33914	T	-0.439016	0.01311	T	-0.566671	0.15756	T	0.130620658397675	0.15440	T	.	.	.	0.076360874	0.17266	0.08782761	0.20439	0.076360874	0.17265	0.08782761	0.20439	-3.911	0.22467	T	.	.	0.102	0.21503	B	.;.;.;.	.;.;.;.	0.545565	0.09141	5.924	0.92398512855108461	0.21810	0.02254	0.06525	N	AEFBI	0.032979	0.03827	N	-0.708036008027068	0.15795	0.7991936	-0.872214299424559	0.12754	0.6579114	9.25399853482627E-5	0.04910	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.579976	0.35079	0	.	.	3.63	0.044	0.13543	0.203000	0.17113	0.843000	0.22062	0.756000	0.94297	0.000000	0.06391	0.006000	0.19429	0.021000	0.11733	0.6349:0.0:0.365:0.0	5.707	0.17184	902	0.24074	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1304.83	70	chr2	206308643	.	A	G	1304.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.37;DP=361;ExcessHet=0;FS=2.691;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=-0.982;SOR=1.041	GT:AD:DP:GQ:PL	0/1:50,47:97:99:1315,0,1345	5	0	1	0
chr2	207613048	207613048	A	G	exonic	METTL21A	.	stoploss	METTL21A:NM_001127395:exon4:c.T655C:p.X219Q,METTL21A:NM_001330130:exon4:c.T655C:p.X219Q,METTL21A:NM_001330134:exon4:c.T655C:p.X219Q,METTL21A:NM_145280:exon4:c.T655C:p.X219Q,METTL21A:NM_001330137:exon5:c.T709C:p.X237Q	.	511	1008	1	2	0	5	0.00247402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000199681	0.0006	0	0.0012	0	0.0008	0.0006	0.0038	0.0006	0.0004851	75	154602	rs183039329	0.0004	0.0004	0.0003	0.0004	0.0040	0.0003	0.0003	0.0027	0.0023	0.0004	0.0010	0.0031	0	0.0006	0.0040	0.0002	0.0008	0.0003	0.0005	0.0005	0.0004	0.0006	0.0005	0.0004	0.0004	0.0003	0.0002	9.617e-05	0	0.0005	0.0049	0	0.0023	0	0.0003	0.0014	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.063	0.12770	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.243921	0.14853	T	-0.173593	0.57115	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.	.;.;.;.;.;.	2.264265	0.28933	17.96	0.81393399985358117	0.13663	0.99662	0.98450	D	AEBI	.	.	.	1.0914305162056	0.97972	17.145	0.924812591626516	0.96565	14.85511	0.999999124994118	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.343423	0.05949	0	0.24566	0.04862	0	0.973043	0.75444	4.76	4.76	0.60189	7.915000	0.86891	10.849000	0.83934	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.538000	0.29892	1.0:0.0:0.0:0.0	14.727	0.68964	598	0.68232	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.040404	0.006793	0.002924	0.000000	0.000000	0.003049	0.003788	0.08333	702.83	33	chr2	207613048	.	A	G	702.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.522;DP=228;ExcessHet=0;FS=1.076;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=0.202;SOR=0.512	GT:AD:DP:GQ:PL	0/1:24,28:52:99:713,0,682	5	0	1	0
chr2	228018327	228018327	T	C	exonic	SPHKAP	.	nonsynonymous SNV	SPHKAP:NM_001142644:exon7:c.A2527G:p.T843A,SPHKAP:NM_030623:exon7:c.A2527G:p.T843A	.	431	1087	4	0	0	4	0.00183655	.	.	.	2203819	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.072	0.00535617654668	0.0007	0.00119808	0.0003	0.0026	0.0003	0	0	0.0001	0.0011	0	0.0002975	46	154602	rs116336001	0.0001	0.0001	0.0001	0.0002	0.0026	0.0001	0.0001	0.0021	0.0020	0.0026	0.0002	0.0005	0	0	0.0019	4.676e-05	0.0006	2.319e-05	0.0007	0.0007	0.0006	0.0007	0.0019	0.0006	0.0005	0.0016	0.0014	0.0019	0	0.0010	0.0003	0	0	0.0034	0.0001	0.0005	0	0.236	0.17940	T	0.638	0.07015	T	0.006	0.30509	B	0.003	0.25678	B	0.523733	0.05217	N	1.258400	1	0.08975	N	2.005	0.54552	M	2.77	0.11407	T	-0.65	0.18877	N	0.036	0.01068	-0.9503	0.40920	T	0.017	0.07045	T	10	0.0055871904	0.00124	T	0.005356	0.13710	T	0.072	0.21020	.	.	0.0551355673512	0.04727	0.15629299230890478	0.15550	0.0474470074149	0.05180	0.201719194651	0.00508	T	0.009402	0.08559	T	-0.732911	0.00023	T	-0.83172	0.01232	T	0.012495382636157	0.00206	T	0.378562	0.09103	T	0.029682772	0.02503	0.027262475	0.00867	0.029682772	0.02502	0.027262475	0.00867	-3.716	0.19747	T	.	.	0.079	0.07507	B	.;.	.;.	-0.212764	0.03027	0.462	0.61874994199451194	0.06819	0.02339	0.06686	N	AEFGBI	0.089959	0.18232	N	-1.14504893020537	0.05862	0.2683405	-1.2610725027196	0.04969	0.2356952	0.0804147228879693	0.15845	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.97	-8.31	0.00877	-0.364000	0.07635	-0.687000	0.07858	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.355000	0.25773	0.2427:0.1837:0.2581:0.3154	0.326	0.00290	869	0.31655	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.005435	0.005848	0.000000	0.008621	0.000000	0.000000	0.08333	1135.83	33	chr2	228018327	.	T	C	1135.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.893;DP=480;ExcessHet=0;FS=9.046;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=-2.248;SOR=0.751	GT:AD:DP:GQ:PL	0/1:67,46:113:99:1146,0,1917	5	0	1	0
chr2	228018548	228018548	G	A	exonic	SPHKAP	.	nonsynonymous SNV	SPHKAP:NM_001142644:exon7:c.C2306T:p.S769F,SPHKAP:NM_030623:exon7:c.C2306T:p.S769F	.	.	.	.	.	.	.	.	.	.	.	2203611	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.084	0.0175301068353	0.0002	.	7.429e-05	0.0007	0	0	0	3.001e-05	0	0	5.82e-05	9	154602	rs144775838	4.994e-05	5.062e-05	5.309e-05	4.676e-05	0.0011	4.059e-05	3.734e-05	0.0008	0.0007	0.0011	4.473e-05	0	0	0	0.0007	1.799e-05	0.0002	0	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0001	0.0005	0.0004	0.0007	0	0	0	0	0	0	7.348e-05	0	0	0.015	0.52492	D	0.002	0.79402	D	0.868	0.62824	P	0.325	0.64797	B	0.069099	0.21628	N	0.509118	1	0.08975	N	2.455	0.71248	M	2.41	0.15492	T	-2.04	0.47008	N	0.233	0.26233	-1.0629	0.11045	T	0.089	0.34271	T	10	0.086158454	0.14618	T	0.01753	0.39265	T	0.084	0.24469	.	.	0.223146558224	0.21909	0.46883755365504876	0.46802	0.287958756199	0.31194	0.251787394285	0.03958	T	0.079917	0.36241	T	-0.481479	0.00725	T	-0.557123	0.16649	T	0.0533343800866062	0.06076	T	0.792521	0.43410	T	0.10686783	0.25270	0.13155611	0.31587	0.10686783	0.25270	0.13155611	0.31586	-4.988	0.36775	T	.	.	0.102	0.25560	B	.;.	.;.	3.023214	0.40473	21.2	0.99681457248607097	0.79307	0.77995	0.38417	D	AEFBCIJ	0.470875	0.51665	N	0.180266646289969	0.50251	3.217047	0.0865378761624382	0.43868	2.679887	0.00165320913585723	0.08750	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.67	4.78	0.60666	2.808000	0.47660	3.304000	0.37407	0.676000	0.76740	0.407000	0.26226	0.742000	0.26489	0.153000	0.20410	0.0:0.1407:0.7132:0.1461	10.950	0.46536	868	0.31772	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.08333	1369.83	33	chr2	228018548	.	G	A	1369.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.994;DP=473;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-0.323;SOR=0.712	GT:AD:DP:GQ:PL	0/1:55,51:106:99:1380,0,1658	5	0	1	0
chr2	228019260	228019260	T	C	exonic	SPHKAP	.	nonsynonymous SNV	SPHKAP:NM_001142644:exon7:c.A1594G:p.S532G,SPHKAP:NM_030623:exon7:c.A1594G:p.S532G	.	426	1092	4	0	0	4	0.00182815	.	.	.	2196961	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.113	0.00234777443712	0.0007	0.00119808	0.0003	0.0027	0.0003	0	0	0.0001	0.0011	0	0.0002975	46	154602	rs145506918	0.0001	0.0001	0.0001	0.0002	0.0026	0.0001	0.0001	0.0021	0.0020	0.0026	0.0002	0.0005	0	0	0.0019	4.676e-05	0.0006	2.319e-05	0.0007	0.0007	0.0006	0.0007	0.0019	0.0006	0.0005	0.0016	0.0014	0.0019	0	0.0009	0.0003	0	0	0.0034	0.0001	0.0005	0	1.0	0.00964	T	0.565	0.08961	T	0.0	0.02946	B	0.0	0.01387	B	0.020916	0.26940	N	0.404640	1	0.08975	N	-2.545	0.00050	N	1.15	0.38236	T	0.42	0.03352	N	0.036	0.01421	-0.9891	0.32828	T	0.018	0.07423	T	10	0.0070701838	0.00161	T	0.002348	0.04562	T	0.113	0.31778	.	.	0.0297737177859	0.01360	0.23071836904240606	0.22986	0.0449657173132	0.04864	0.256071537733	0.04435	T	0.008898	0.08136	T	-0.681812	0.00047	T	-0.758319	0.03173	T	0.0102769698062548	0.00140	T	0.221278	0.02853	T	0.034199785	0.03792	0.046610128	0.06534	0.034199785	0.03791	0.046610128	0.06533	-4.389	0.29665	T	.	.	0.051	0.00234	B	.;.	.;.	0.686317	0.10548	7.258	0.1384551277648331	0.00286	0.00139	0.00851	N	AEFBI	0.056662	0.10492	N	-1.37786831290376	0.02846	0.1262685	-1.18044843873954	0.06237	0.2995748	0.00270502522615735	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.03	5.15	0.70287	1.459000	0.34844	1.141000	0.24405	-0.171000	0.11205	0.001000	0.13787	0.001000	0.17328	0.005000	0.06747	0.0:0.8531:0.0:0.1469	10.593	0.44513	863	0.32847	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.000000	0.005435	0.005848	0.000000	0.008621	0.000000	0.000000	0.08333	1711.83	33	chr2	228019260	.	T	C	1711.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.693;DP=341;ExcessHet=0;FS=0.624;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=1.62;SOR=0.598	GT:AD:DP:GQ:PL	0/1:73,69:142:99:1722,0,1965	5	0	1	0
chr2	228019934	228019934	T	G	exonic	SPHKAP	.	nonsynonymous SNV	SPHKAP:NM_001142644:exon7:c.A920C:p.Q307P,SPHKAP:NM_030623:exon7:c.A920C:p.Q307P	.	424	1095	3	0	0	3	0.00136799	.	.	.	3323180	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.055	0.00779260879063	0.0007	0.00119808	0.0003	0.0026	0.0003	0	0	0.0001	0.0011	0	0.000304	47	154602	rs139197816	0.0002	0.0002	0.0001	0.0002	0.0026	0.0001	0.0001	0.0021	0.0020	0.0026	0.0004	0.0005	0	0	0.0019	4.676e-05	0.0006	2.319e-05	0.0007	0.0007	0.0006	0.0007	0.0019	0.0006	0.0005	0.0016	0.0014	0.0019	0	0.0010	0.0003	0	0	0.0034	0.0001	0.0005	0	0.125	0.27310	T	0.274	0.22084	T	0.497	0.37095	P	0.091	0.36167	B	0.023138	0.01586	N	1.959970	1	0.08975	N	1.39	0.34934	L	2.71	0.12055	T	-1.18	0.30140	N	0.283	0.32037	-1.0307	0.20227	T	0.018	0.07612	T	10	0.008254409	0.00187	T	0.007793	0.20668	T	0.055	0.15663	.	.	0.0611884634855	0.05136	0.19586846657024923	0.19503	0.0547988209984	0.06069	0.175694972277	0.00061	T	0.009279	0.08456	T	-0.563118	0.00243	T	-0.587823	0.13854	T	0.00862761548024706	0.00105	T	0.342966	0.07460	T	0.12216923	0.28713	0.0900159	0.21085	0.12216923	0.28713	0.0900159	0.21085	-3.05	0.10730	T	.	.	0.068	0.06159	B	.;.	.;.	-0.257448	0.02810	0.387	0.63463491008326534	0.07230	0.07865	0.13857	N	AEFBI	0.268492	0.38497	N	-1.07043939293684	0.07193	0.3333894	-1.21175844012706	0.05720	0.273353	6.80794350154448E-4	0.07599	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.6	-6.66	0.01624	-0.518000	0.06353	-1.346000	0.05659	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2204:0.3346:0.2064:0.2385	1.213	0.01792	863	0.32847	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.005435	0.005848	0.000000	0.008621	0.000000	0.000000	0.08333	1421.83	33	chr2	228019934	.	T	G	1421.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.566;DP=331;ExcessHet=0;FS=5.244;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-0.386;SOR=0.678	GT:AD:DP:GQ:PL	0/1:71,63:134:99:1432,0,1829	5	0	1	0
chr2	228020156	228020156	T	C	exonic	SPHKAP	.	nonsynonymous SNV	SPHKAP:NM_001142644:exon7:c.A698G:p.D233G,SPHKAP:NM_030623:exon7:c.A698G:p.D233G	.	432	1086	4	0	0	4	0.00183824	0.0001	0.002	.	2196806	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.159	.	0.0007	0.00119808	0.0003	0.0028	0.0003	0	0	0.0001	0.0012	0	0.0002975	46	154602	rs140596863	0.0001	0.0001	0.0001	0.0002	0.0027	0.0001	0.0001	0.0022	0.0021	0.0027	0.0003	0.0005	0	0	0.0020	4.721e-05	0.0006	2.474e-05	0.0007	0.0007	0.0006	0.0007	0.0019	0.0006	0.0005	0.0015	0.0014	0.0019	0	0.0010	0.0003	0	0	0.0034	0.0001	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000007	0.62929	N	0.108387	0.999979	0.18612	N	-2.32	0.00092	N	2.86	0.10482	T	1.12	0.01197	N	0.162	0.17691	-0.9585	0.39461	T	0.007	0.02282	T	10	0.005243987	0.00114	T	0.011341	0.28865	T	0.159	0.41286	.	.	0.0401082797425	0.02173	0.2495699099371592	0.24870	0.0578692746396	0.06410	0.435558229685	0.29970	T	0.014046	0.12031	T	-0.622073	0.00107	T	-0.672509	0.07448	T	0.00660088049205696	0.00074	T	0.310869	0.06046	T	0.053784367	0.10227	0.11597063	0.27997	0.053784367	0.10227	0.11597063	0.27996	-3.724	0.19673	T	.	.	0.042	0.00075	B	.;.	.;.	1.917211	0.24347	16.36	0.14797362380163023	0.00339	0.01604	0.05200	N	AEFBI	0.034645	0.04329	N	-0.833055150668539	0.12471	0.6080851	-0.522851076288124	0.21533	1.165337	1.47432080266003E-4	0.05573	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.45	5.45	0.79688	2.663000	0.46440	2.633000	0.33705	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.559000	0.30388	0.0:0.777:0.1445:0.0785	9.239	0.36645	863	0.32847	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.000000	0.005435	0.005848	0.000000	0.008621	0.000000	0.000000	0.08333	476.83	33	chr2	228020156	.	T	C	476.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.19;DP=200;ExcessHet=0;FS=2.481;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.07;ReadPosRankSum=-0.521;SOR=1.688	GT:AD:DP:GQ:PL	0/1:11,14:25:99:487,0,340	5	0	1	0
chr2	229586007	229586007	G	A	exonic	DNER	.	nonsynonymous SNV	DNER:NM_139072:exon4:c.C698T:p.T233I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0448550923597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.002	0.79402	D	0.437	0.35811	B	0.157	0.34536	B	0.006311	0.32122	N	0.370962	0.693139	0.30172	N	0.695	0.17993	N	-1.96	0.85091	D	-1.94	0.45042	N	0.347	0.38848	-0.3326	0.74058	T	0.400	0.75130	T	10	0.2869131	0.46274	T	0.044855	0.61695	D	0.160	0.41473	0.422	0.46529	0.409337501531	0.40548	0.5144449475768391	0.51366	0.145777314814	0.16458	0.398365259171	0.24841	T	0.353675	0.72093	T	-0.0376353	0.46298	T	-0.291837	0.45580	T	0.448977142572403	0.30760	T	0.670133	0.27879	T	0.07296631	0.16272	0.09190256	0.21632	0.07296631	0.16271	0.09190256	0.21632	-7.161	0.55201	T	.	.	0.182	0.39613	B	.	.	3.385662	0.46848	22.4	0.99211030508649889	0.55594	0.76271	0.37394	D	AEFDBHCI	0.298952	0.40813	N	-0.232254226749593	0.31817	1.787936	-0.154852545795749	0.33222	1.898157	0.999999996512362	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.54	4.64	0.57399	3.526000	0.53265	8.275000	0.76894	0.676000	0.76740	0.971000	0.34370	1.000000	0.68203	0.854000	0.40426	0.0:0.0:0.8601:0.1399	15.447	0.74970	944	0.12746	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	540.83	34	chr2	229586007	.	G	A	540.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.331;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.39;ReadPosRankSum=-0.94;SOR=0.569	GT:AD:DP:GQ:PL	0/1:13,20:33:99:551,0,364	5	0	1	0
chr2	233485843	233485843	T	C	exonic	USP40	.	nonsynonymous SNV	USP40:NM_001382302:exon3:c.A251G:p.Y84C,USP40:NM_001382298:exon27:c.A3059G:p.Y1020C,USP40:NM_001365479:exon29:c.A3332G:p.Y1111C,USP40:NM_001382295:exon29:c.A3332G:p.Y1111C,USP40:NM_018218:exon29:c.A3329G:p.Y1110C,USP40:NM_001382296:exon30:c.A3392G:p.Y1131C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00658571041161	0.0027	0.00119808	0.0016	0.0009	0.0001	0	0.0004	0.0026	0.0014	7.52e-05	0.001423	220	154602	rs143661480	0.0024	0.0024	0.0024	0.0025	0.0031	0.0024	0.0024	0.0030	0.0029	0.0004	0.0004	0	7.564e-05	0.0005	0.0002	0.0031	0.0016	3.52e-05	0.0015	0.0015	0.0017	0.0012	0.0027	0.0013	0.0012	0.0024	0.0022	0.0004	0	0.0010	0	0.0002	0.0002	0	0.0027	0.0019	0.0008	0.099	0.30800	T	0.141	0.33442	T	0.019	0.17989	B	0.041	0.23986	B	0.494433	0.12021	N	0.805071	0.992566	0.23862	N	1.225	0.30651	L	3.42	0.05507	T	-2.84	0.59873	D	0.425	0.46462	-0.9559	0.39934	T	0.013	0.04938	T	10	0.0053712428	0.00118	T	0.006586	0.17358	T	0.118	0.32913	.	.	0.296679040009	0.29266	0.5386652364253887	0.53791	0.0471783909086	0.05139	0.367114424706	0.20417	T	0.074606	0.34979	T	-0.532079	0.00373	T	-0.534737	0.18816	T	0.00739806427756791	0.00085	T	0.79842	0.44325	T	0.10502975	0.24833	0.12185562	0.29397	0.10502975	0.24832	0.12185562	0.29397	-3.39	0.14922	T	.	.	0.052	0.00647	B	.;.;.	.;.;.	1.356922	0.17655	13.29	0.63860076162042823	0.07336	0.56687	0.30181	D	AEFDBI	0.122060	0.23703	N	-0.866374065651372	0.11649	0.5633327	-0.827114871354566	0.13838	0.7200627	0.999412543386526	0.39577	0.50712	0.20391	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.75	0.574	0.16553	0.916000	0.28273	0.131000	0.15046	-0.120000	0.14102	0.842000	0.30316	0.016000	0.20520	0.228000	0.22680	0.1302:0.2905:0.0:0.5793	4.675	0.12089	929	0.16858	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1687.83	34	chr2	233485843	.	T	C	1687.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.85;DP=408;ExcessHet=0;FS=10.414;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.29;SOR=1	GT:AD:DP:GQ:PL	0/1:77,64:141:99:1698,0,2085	5	0	1	0
chr2	233796262	233796262	G	A	exonic	MROH2A	.	nonsynonymous SNV	MROH2A:NM_001367507:exon11:c.G1201A:p.A401T	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0164469901757	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252096436	6.438e-06	7.524e-06	7.058e-06	5.802e-06	0.0002	3.03e-06	2.19e-06	1.048e-05	3.92e-06	6.332e-05	0	0	2.8e-05	0	0.0002	3.708e-06	1.725e-05	0	2.66e-05	2.635e-05	3.889e-05	1.366e-05	9.8e-05	8.22e-06	5.19e-06	3.284e-05	1.938e-05	9.8e-05	0	0	0	0	0	0	0	0	0	0.316	0.13744	T	0.0	0.92824	D	.	.	.	.	.	.	0.002456	0.36537	N	0.000000	0.991401	0.24039	N	.	.	.	2.69	0.12268	T	-1.26	0.31778	N	0.121	0.11483	-1.0463	0.15447	T	0.037	0.15770	T	8	0.12000868	0.22723	T	0.016447	0.37712	T	0.033	0.08068	0.34	0.33141	0.110078149338	0.10416	0.04340518517455599	0.04285	2.46197207718E-4	0.00014	.	.	.	0.008583	0.07868	T	-0.438427	0.01321	T	-0.6125	0.11783	T	0.836839735507965	0.49071	D	0.636736	0.25039	T	0.043405738	0.06758	0.1081021	0.26035	0.043405738	0.06758	0.1081021	0.26034	-1.505	0.01774	T	.	.	0.090	0.12418	B	.;.	.;.	2.212410	0.28225	17.73	0.99846850402343834	0.92663	0.74523	0.36458	D	AEFDBI	0.182896	0.31022	N	-0.0438643004603891	0.39877	2.358832	-0.0484978893144721	0.37555	2.200506	0.0220880967580268	0.13403	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.09	3.21	0.35933	2.470000	0.44777	4.507000	0.43632	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.022000	0.11911	0.0921:0.0:0.7348:0.1731	6.765	0.22749	763	0.50172	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1645.83	41	chr2	233796262	.	G	A	1645.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.836;DP=331;ExcessHet=0;FS=0.746;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=0.516;SOR=0.569	GT:AD:DP:GQ:PL	0/1:49,64:113:99:1656,0,1187	5	0	1	0
chr2	237376910	237376910	C	T	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057166:exon4:c.G1111A:p.A371T,COL6A3:NM_057164:exon5:c.G1711A:p.A571T,COL6A3:NM_057165:exon6:c.G2314A:p.A772T,COL6A3:NM_057167:exon6:c.G2314A:p.A772T,COL6A3:NM_004369:exon7:c.G2932A:p.A978T	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	275361	not_provided|Bethlem_myopathy_1A	MedGen:C3661900|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.560	0.278636386093	.	.	1.647e-05	9.61e-05	0	0	0	0	0	6.056e-05	1.29e-05	2	154602	rs768292803	1.094e-05	1.094e-05	1.225e-05	9.625e-06	4.472e-05	6.48e-06	5.24e-06	7.41e-06	3.32e-06	2.987e-05	4.472e-05	0	0	0	0	8.993e-06	1.656e-05	2.319e-05	6.57e-06	6.567e-06	1.284e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.12	0.68238	T	0.001	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000065	0.52346	D	0.000000	0.999988	0.54805	D	2.93	0.84523	M	-1.84	0.84195	D	-1.79	0.50992	N	0.808	0.80375	0.555	0.91305	D	0.777	0.92409	D	10	0.76551694	0.76672	D	0.278636	0.90149	D	0.560	0.81946	.	.	0.921606374446	0.92081	0.46413481424100134	0.46332	0.637461451962	0.57488	0.53922867775	0.44337	T	0.31349	0.68524	T	0.124966	0.66868	D	0.123257	0.78452	D	0.911743462085724	0.56741	D	0.946505	0.81072	D	0.16225107	0.36289	0.15669008	0.36673	0.16225107	0.36289	0.15669008	0.36672	-5.277	0.48571	T	0.7377850215646607	0.81975	0.305	0.53410	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.210627	0.63609	24.6	0.99941675599110291	0.99797	0.99018	0.90030	D	AEFDGBI	0.633712	0.61385	D	0.699067688359955	0.79570	7.105884	0.648990876607961	0.78535	6.895935	0.999999995913573	0.74766	0.638212	0.43195	0	0.563428	0.19063	0	0.653264	0.51672	0	0.542086	0.14980	0	.	.	5.55	5.55	0.83298	2.222000	0.42568	7.620000	0.62269	0.599000	0.40250	0.962000	0.33725	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	19.496	0.95067	932	0.16191	.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2294.83	38	chr2	237376910	.	C	T	2294.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.158;DP=328;ExcessHet=0;FS=2.151;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.83;ReadPosRankSum=-1.009;SOR=0.535	GT:AD:DP:GQ:PL	0/1:62,83:145:99:2305,0,1652	5	0	1	0
chr2	240745853	240745853	G	A	exonic	KIF1A	.	nonsynonymous SNV	KIF1A:NM_001379636:exon29:c.C2956T:p.P986S,KIF1A:NM_001379637:exon29:c.C3031T:p.P1011S,KIF1A:NM_001379639:exon29:c.C2956T:p.P986S,KIF1A:NM_001379640:exon29:c.C2953T:p.P985S,KIF1A:NM_001379641:exon29:c.C2956T:p.P986S,KIF1A:NM_001379648:exon29:c.C3031T:p.P1011S,KIF1A:NM_001379649:exon29:c.C2956T:p.P986S,KIF1A:NM_001379650:exon29:c.C2956T:p.P986S,KIF1A:NM_001379651:exon29:c.C2956T:p.P986S,KIF1A:NM_001379653:exon29:c.C2956T:p.P986S,KIF1A:NM_004321:exon29:c.C2956T:p.P986S,KIF1A:NM_001320705:exon30:c.C2983T:p.P995S,KIF1A:NM_001330289:exon30:c.C2983T:p.P995S,KIF1A:NM_001330290:exon30:c.C3058T:p.P1020S,KIF1A:NM_001379632:exon30:c.C3208T:p.P1070S,KIF1A:NM_001379633:exon30:c.C3232T:p.P1078S,KIF1A:NM_001379634:exon30:c.C3058T:p.P1020S,KIF1A:NM_001379635:exon30:c.C3058T:p.P1020S,KIF1A:NM_001379638:exon30:c.C2983T:p.P995S,KIF1A:NM_001379642:exon30:c.C3232T:p.P1078S,KIF1A:NM_001379645:exon30:c.C3232T:p.P1078S,KIF1A:NM_001379646:exon30:c.C3058T:p.P1020S,KIF1A:NM_001244008:exon31:c.C3259T:p.P1087S,KIF1A:NM_001379631:exon31:c.C3334T:p.P1112S	Mental retardation, autosomal dominant 9, Autosomal dominant;Neuropathy, hereditary sensory, type IIC, Autosomal recessive;Spastic paraplegia 30, autosomal recessive, Autosomal recessive	0	1479	37	6	0	49	0.0162953	.	.	.	193290	Hereditary_spastic_paraplegia_30|Neuropathy,_hereditary_sensory,_type_2C|Intellectual_disability,_autosomal_dominant_9|not_specified|not_provided|History_of_neurodevelopmental_disorder|Hereditary_spastic_paraplegia	MONDO:MONDO:0012476,MedGen:C5235139,OMIM:610357,Orphanet:101010|MONDO:MONDO:0013634,MedGen:C3280168,OMIM:614213,Orphanet:970|MONDO:MONDO:0013656,MedGen:C5393830,OMIM:614255,Orphanet:662367|MedGen:CN169374|MedGen:C3661900|MedGen:C2711754|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.107	0.0594245771781	0.0028	0.00219649	0.0041	0.0009	0.0034	0	0.0011	0.0057	0.0080	0.0030	0.0036093	558	154602	rs143037290	0.0046	0.0046	0.0045	0.0047	0.0083	0.0045	0.0045	0.0065	0.0058	0.0007	0.0030	0.0023	2.521e-05	0.0025	0.0083	0.0052	0.0042	0.0027	0.0037	0.0037	0.0039	0.0035	0.0059	0.0034	0.0033	0.0054	0.0052	0.0009	0	0.0046	0.0012	0	0.0025	0	0.0059	0.0043	0.0027	0.272	0.33585	T	0.306	0.23776	T	0.611	0.40609	P	0.223	0.40007	B	0.004401	0.33773	U	0.287719	0.996803	0.43428	D	1.01	0.25309	L	-0.56	0.73100	T	-2.13	0.57920	N	0.237	0.26717	-0.7380	0.58555	T	0.166	0.50486	T	10	0.006913662	0.00157	T	0.059425	0.67659	D	0.107	0.30369	.	.	0.488693090275	0.48504	0.6504251407530547	0.64978	0.442731520415	0.44227	0.410150766373	0.26477	T	0.234876	0.60200	T	-0.435711	0.01371	T	-0.392247	0.34289	T	0.00961875640062583	0.00125	T	0.937806	0.76632	D	0.10542153	0.24925	0.14566709	0.34540	0.12131904	0.28531	0.13042977	0.31339	-4.647	0.42416	T	.	.	0.080	0.07554	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.380396	0.30556	18.47	0.8779654377793944	0.17488	0.80881	0.40408	D	AEFDBCI	0.498454	0.53255	N	-0.244869568014696	0.31308	1.754247	-0.173117894835164	0.32530	1.851573	0.913811039238435	0.26435	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	4.17	4.17	0.48303	3.393000	0.52286	3.708000	0.39547	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.193000	0.21690	0.0:0.0:1.0:0.0	16.476	0.83976	994	0.00715	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.005051	0.006812	0.000000	0.000000	0.008621	0.009146	0.018939	0.08333	1156.83	34	chr2	240745853	.	G	A	1156.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.985;DP=290;ExcessHet=0;FS=2.96;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=-0.14;SOR=0.819	GT:AD:DP:GQ:PL	0/1:37,45:82:99:1167,0,926	5	0	1	0
chr3	9767742	9767742	C	T	exonic	CAMK1	.	nonsynonymous SNV	CAMK1:NM_003656:exon2:c.G8A:p.G3E	.	430	1078	14	0	0	14	0.00645161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0127511836734	0.0007	0.00139776	0.0013	0	0.0010	0	0	0.0017	0.0033	0.0016	0.0012548	194	154602	rs113139851	0.0011	0.0011	0.0010	0.0013	0.0102	0.0011	0.0011	0.0081	0.0074	0.0003	0.0010	0.0027	0	5.63e-05	0.0102	0.0011	0.0016	0.0022	0.0008	0.0008	0.0009	0.0007	0.0035	0.0007	0.0007	0.0022	0.0018	0.0001	0	0.0007	0.0029	0.0002	0	0.0068	0.0011	0.0028	0.0035	0.004	0.65419	D	0.021	0.58089	D	0.0	0.02946	B	0.001	0.04355	B	0.001143	0.40056	N	0.167987	0.697247	0.33385	D	-0.695	0.01866	N	-0.32	0.68181	T	-0.35	0.12847	N	0.411	0.45142	-0.7683	0.56951	T	0.171	0.51245	T	10	0.00780797	0.00177	T	0.012751	0.31594	T	0.035	0.08770	.	.	0.753908736408	0.75168	0.31038781078367295	0.30951	0.270098703426	0.29533	0.679591476917	0.64210	T	0.119848	0.44167	T	-0.403479	0.02196	T	-0.35961	0.38099	T	0.0285325897958251	0.01766	T	0.269473	0.04507	T	0.18282531	0.39520	0.23688889	0.48972	0.18282531	0.39519	0.23688889	0.48971	-4.492	0.30784	T	.	.	0.075	0.35951	B	.;.	.;.	3.774754	0.54236	23.5	0.9916893267319169	0.54326	0.93817	0.59276	D	AEFDBI	0.440818	0.49923	N	-0.0923487148063139	0.37728	2.19916	0.137109516737573	0.46463	2.891858	0.999999970953272	0.74766	0.645754	0.44609	0	0.633656	0.55848	0	0.489635	0.07774	0	0.723	0.93126	0	.	.	5.66	5.66	0.87293	3.165000	0.50477	5.942000	0.51497	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:1.0:0.0:0.0	16.485	0.84028	612	0.66786	.;Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.005435	0.000000	0.000000	0.000000	0.009146	0.000000	0.08333	914.83	33	chr3	9767742	.	C	T	914.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.42;DP=257;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=-0.385;SOR=0.598	GT:AD:DP:GQ:PL	0/1:44,35:79:99:925,0,1095	5	0	1	0
chr3	13354041	13354041	A	T	exonic	NUP210	.	nonsynonymous SNV	NUP210:NM_024923:exon17:c.T2395A:p.F799I	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.513	0.0369568355687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.003	0.76473	D	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.165	0.88605	M	1.84	0.24656	T	-5.34	0.84674	D	0.943	0.95021	-0.7671	0.57017	T	0.175	0.51927	T	10	0.85620856	0.84818	D	0.036957	0.57318	D	0.513	0.79156	0.614	0.74768	0.472023113445	0.46832	0.7635692406098001	0.76304	0.712328074586	0.61763	0.653359472752	0.60464	T	0.487644	0.81362	T	0.212964	0.75111	D	0.0681316	0.74787	D	0.995101273059845	0.86838	D	0.915108	0.69728	D	0.63262343	0.74438	0.49743834	0.70940	0.63262343	0.74439	0.49743834	0.70940	-11.456	0.82100	D	.	.	0.852	0.79856	P	.	.	4.539113	0.71334	25.7	0.99193425507002919	0.55053	0.98587	0.84406	D	AEFBCI	0.905858	0.85790	D	0.673132065322312	0.77874	6.759174	0.588780512901025	0.74131	6.085612	0.999998347191465	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.644132	0.48003	0	0.613276	0.41899	0	.	.	5.53	4.34	0.51267	9.325000	0.96006	9.247000	0.79462	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.8613:0.1387:0.0:0.0	12.604	0.55866	744	0.52588	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	694.83	35	chr3	13354041	.	A	T	694.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.28;DP=298;ExcessHet=0;FS=0.933;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=-0.189;SOR=0.495	GT:AD:DP:GQ:PL	0/1:40,29:69:99:705,0,1049	5	0	1	0
chr3	14158267	14158267	T	C	exonic	XPC	.	nonsynonymous SNV	XPC:NM_001354726:exon8:c.A1037G:p.E346G,XPC:NM_001354727:exon9:c.A1616G:p.E539G,XPC:NM_001354729:exon9:c.A1598G:p.E533G,XPC:NM_001354730:exon9:c.A1616G:p.E539G,XPC:NM_004628:exon9:c.A1616G:p.E539G	Xeroderma pigmentosum, group C, Autosomal recessive	0	1517	4	1	0	6	0.00197368	.	.	YES	292745	Xeroderma_pigmentosum|not_provided|Xeroderma_pigmentosum,_group_C	MONDO:MONDO:0019600,MedGen:C0043346,Orphanet:910|MedGen:C3661900|MONDO:MONDO:0010211,MedGen:C2752147,OMIM:278720,Orphanet:910	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.146	0.0207686821974	.	0.000199681	0.0003	0	0.0002	0	0	0.0002	0	0.0013	0.0002329	36	154602	rs563236303	0.0001	0.0001	7.76e-05	0.0002	0.0016	0.0001	0.0001	0.0013	0.0013	0	0.0001	0	0	0	0.0014	4.137e-05	0.0002	0.0016	9.192e-05	9.186e-05	8.994e-05	9.398e-05	0.0008	5.523e-05	4.361e-05	0.0003	0.0002	4.812e-05	0	6.534e-05	0	0	0	0.0034	5.88e-05	0.0009	0.0008	0.006	0.61437	D	0.019	0.59159	D	0.589	0.39027	P	0.507	0.47859	P	0.032828	0.24977	N	0.490039	1	0.08975	N	2.625	0.76847	M	1.86	0.24285	T	-5.1	0.83027	D	0.29	0.32812	-1.0190	0.24041	T	0.098	0.36703	T	10	0.046277046	0.03798	T	0.020769	0.43429	T	0.146	0.38789	0.487	0.57098	0.562428738172	0.55904	0.4562593524259178	0.45543	0.423969410198	0.42838	0.253427088261	0.04138	T	0.199498	0.55679	T	-0.435597	0.01373	T	-0.43386	0.29497	T	0.20733011249593	0.20813	T	0.864413	0.56163	D	0.53266126	0.68981	0.57312363	0.75275	0.53266126	0.68982	0.57312363	0.75276	-10.63	0.77590	D	0.8147472838689709	0.88897	0.108	0.20430	B	.	.	3.863336	0.56045	23.7	0.99807742088000762	0.89174	0.72339	0.35411	D	AEFGBHCI	0.220856	0.34555	N	0.0518203606339997	0.44226	2.700549	-0.0169985880282578	0.38946	2.301974	0.999997998304014	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.8	4.6	0.56512	3.361000	0.52028	2.871000	0.35267	0.665000	0.62972	0.778000	0.29449	0.886000	0.27767	0.015000	0.10482	0.0:0.0:0.1331:0.8669	13.140	0.58847	789	0.46346	Rad4/PNGase transglutaminase-like fold	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2746.83	33	chr3	14158267	.	T	C	2746.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.01;DP=402;ExcessHet=0;FS=0.488;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=0.155;SOR=0.712	GT:AD:DP:GQ:PL	0/1:111,112:223:99:2757,0,2708	5	0	1	0
chr3	19347879	19347879	A	G	exonic	KCNH8	.	nonsynonymous SNV	KCNH8:NM_144633:exon5:c.A725G:p.N242S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.593	0.0828614809405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.418	0.09896	T	0.271	0.22291	T	0.942	0.52977	P	0.463	0.46548	P	0.004859	0.33331	U	0.000000	1	0.81001	D	1.535	0.38868	L	-4.34	0.97267	D	-3.91	0.73042	D	0.826	0.82157	0.788	0.94269	D	0.849	0.94957	D	9	0.8009505	0.79498	D	0.082861	0.73992	D	0.593	0.83802	0.56	0.67958	0.868938009067	0.86766	0.7649749740367802	0.76446	1.60359182183	0.88737	0.781289339066	0.79122	T	0.678749	0.90544	D	0.110382	0.65392	D	-0.079221	0.64962	T	0.919687628746033	0.57851	D	0.916808	0.70203	D	0.29184356	0.52163	0.30892065	0.56908	0.29184356	0.52163	0.30892065	0.56908	-9.816	0.72802	D	.	.	0.250	0.48479	B	.	.	4.827907	0.78704	27.0	0.99511762574424389	0.68678	0.98930	0.88779	D	AEFDGBHIJ	0.924942	0.90373	D	0.346121597345919	0.58535	4.026319	0.47409820217199	0.66277	4.931371	0.999999999999994	0.74766	0.554377	0.28877	0	0.468601	0.06657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.68	5.68	0.88021	9.294000	0.95180	11.171000	0.87970	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.937	0.79508	859	0.33891	Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1204.83	33	chr3	19347879	.	A	G	1204.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.32;DP=281;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=-1.622;SOR=0.704	GT:AD:DP:GQ:PL	0/1:63,49:112:99:1215,0,1614	5	0	1	0
chr3	19395159	19395159	T	G	exonic	KCNH8	.	nonsynonymous SNV	KCNH8:NM_144633:exon7:c.T1025G:p.L342R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.956	0.286616318354	7.7e-05	.	8.257e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs370083901	6.853e-07	6.84e-07	0	1.378e-06	9.003e-07	0	0	.	.	0	0	0	0	0	0	9.003e-07	0	0	1.315e-05	1.313e-05	1.286e-05	1.346e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.002	0.72154	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.021702	0.26779	U	0.000000	1	0.81001	D	3.21	0.89262	M	-4.4	0.97419	D	-5.58	0.86450	D	0.914	0.91621	1.100	0.99670	D	0.956	0.98575	D	9	0.94763505	0.94092	D	0.286616	0.90419	D	0.956	0.99253	.	.	0.973788794047	0.97350	0.953932350564377	0.95377	2.15305358426	0.95331	0.758346915245	0.75684	T	0.734116	0.92582	D	0.556584	0.96031	D	0.561718	0.95970	D	0.97393935918808	0.70299	D	0.957304	0.83911	D	0.8877511	0.90315	0.9077363	0.95527	0.8877511	0.90316	0.9077363	0.95528	-11.369	0.81642	D	.	.	0.881	0.81555	P	.	.	5.288469	0.88792	29.7	0.99791845420211656	0.87750	0.96468	0.69288	D	AEFDHCI	0.932795	0.92368	D	0.852397497271395	0.89246	9.892903	0.805766495878536	0.90192	10.29652	0.999997636301998	0.74766	0.614807	0.35715	0	0.588015	0.36545	0	0.616094	0.41390	0	0.564101	0.26826	0	.	.	5.78	5.78	0.91418	8.017000	0.88732	7.888000	0.72886	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:0.0:1.0	16.114	0.81098	831	0.39019	Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1221.83	38	chr3	19395159	.	T	G	1221.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.13;DP=372;ExcessHet=0;FS=4.15;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.79;ReadPosRankSum=-1.478;SOR=1.042	GT:AD:DP:GQ:PL	0/1:85,54:139:99:1232,0,2093	5	0	1	0
chr3	28340533	28340533	A	G	exonic	AZI2	.	nonsynonymous SNV	AZI2:NM_001134432:exon2:c.T85C:p.Y29H,AZI2:NM_001134433:exon2:c.T85C:p.Y29H,AZI2:NM_022461:exon2:c.T85C:p.Y29H	.	438	1077	7	0	0	7	0.00323924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.0040293105995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.40573	T	0.111	0.37173	T	0.883	0.61523	P	0.541	0.58350	P	0.000069	0.52346	D	0.208502	0.995003	0.42504	D	2.395	0.69210	M	.	.	.	-1.48	0.51157	N	0.611	0.66101	-0.6906	0.60880	T	0.261	0.63219	T	9	0.39341548	0.55055	T	0.004029	0.09587	T	0.129	0.35316	0.432	0.48171	0.337621943819	0.33374	0.18296857397605543	0.18215	0.638007219526	0.57542	0.559342741966	0.47175	T	0.075866	0.36999	T	0.0259208	0.55179	T	-0.200543	0.54595	T	0.942075669765472	0.61592	D	0.912209	0.76932	D	0.15031867	0.34226	0.13880904	0.33138	0.15031867	0.34226	0.13880904	0.33138	-6.676	0.52500	T	.	.	0.178	0.43666	B	.;.;.;.;.;.	.;.;.;.;.;.	3.931320	0.57465	23.9	0.99778898718080189	0.86606	0.97609	0.75878	D	AEBI	0.825643	0.74529	D	0.542911005625502	0.69652	5.387457	0.601067350568294	0.75017	6.236786	0.999999999968039	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.87	5.87	0.94266	6.354000	0.72981	8.161000	0.76737	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.272	0.82451	641	0.64016	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	896.83	33	chr3	28340533	.	A	G	896.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.04;DP=248;ExcessHet=0;FS=0.84;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-1.967;SOR=0.807	GT:AD:DP:GQ:PL	0/1:41,37:78:99:907,0,902	5	0	1	0
chr3	33152942	33152942	C	G	exonic	SUSD5	.	nonsynonymous SNV	SUSD5:NM_015551:exon5:c.G1690C:p.G564R	.	419	1100	2	1	0	4	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.0194888475598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.053	0.47336	T	1.0	0.90584	D	0.982	0.75477	D	0.000018	0.62929	D	0.114891	0.999814	0.49394	D	2.34	0.67151	M	3.01	0.09075	T	-4.55	0.78553	D	0.398	0.43899	-1.1548	0.00889	T	0.086	0.33466	T	10	0.33394784	0.50577	T	0.019489	0.41866	T	0.249	0.55752	0.393	0.41770	0.407632638399	0.40377	0.6338682673309226	0.63320	0.328582784647	0.34964	0.478662967682	0.35873	T	0.156559	0.49878	T	-0.0522702	0.44103	T	-0.312859	0.43351	T	0.906071960926056	0.55999	D	0.732627	0.34815	T	0.22643429	0.45325	0.22053646	0.46833	0.22643429	0.45325	0.22053646	0.46832	-3.445	0.15670	T	.	.	0.161	0.35519	B	.	.	3.581139	0.50486	22.9	0.99863618974007828	0.94184	0.98182	0.80315	D	AEFDBI	0.635920	0.61526	D	0.600758237481079	0.73223	5.931139	0.5251877066856	0.69689	5.396458	0.999999999808805	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	5.725000	0.68156	7.706000	0.66547	0.596000	0.33519	0.999000	0.42656	1.000000	0.68203	0.004000	0.06068	0.0:1.0:0.0:0.0	18.234	0.89879	716	0.55970	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1216.83	39	chr3	33152942	.	C	G	1216.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.98;DP=298;ExcessHet=0;FS=3.438;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=-0.74;SOR=1.073	GT:AD:DP:GQ:PL	0/1:70,49:119:99:1227,0,1823	5	0	1	0
chr3	37743963	37743963	G	A	exonic	ITGA9	.	nonsynonymous SNV	ITGA9:NM_002207:exon22:c.G2362A:p.V788M	.	420	1088	12	2	0	16	0.00729927	.	.	.	3199366	ITGA9-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.119	0.0314228714166	0.0041	0.00159744	0.0027	0.0003	0.0037	0	0.0002	0.0036	0.0066	0.0019	0.002652	410	154602	rs140716372	0.0037	0.0037	0.0037	0.0036	0.0087	0.0036	0.0036	0.0068	0.0061	0.0007	0.0044	0.0015	0	0.0002	0.0087	0.0042	0.0030	0.0022	0.0027	0.0027	0.0030	0.0024	0.0045	0.0025	0.0024	0.0040	0.0039	0.0007	0	0.0037	0.0009	0.0002	0.0003	0.0034	0.0045	0.0057	0.0021	0.097	0.30943	T	0.094	0.39645	T	0.947	0.53479	P	0.671	0.53151	P	0.000047	0.53742	D	0.127086	0.997496	0.43934	D	1.79	0.46772	L	0.6	0.53731	T	-0.91	0.24460	N	0.332	0.37301	-0.8723	0.50356	T	0.139	0.45678	T	10	0.009117633	0.00206	T	0.031423	0.53513	D	0.119	0.33137	.	.	0.43912465853	0.43530	0.48101672538957085	0.48021	0.327012137935	0.34843	0.416602492332	0.27370	T	0.229937	0.59588	T	-0.464998	0.00914	T	-0.439209	0.28898	T	0.0162913265801965	0.00400	T	0.806719	0.45571	T	0.045280676	0.07385	0.06301902	0.12420	0.045280676	0.07385	0.06301902	0.12420	-7.278	0.56038	T	.	.	0.135	0.29311	B	.	.	3.166437	0.42919	21.6	0.99749874202418909	0.84152	0.77544	0.38139	D	AEFDBI	0.196696	0.32365	N	0.0702798620285177	0.45080	2.770615	0.0384267458973693	0.41516	2.495504	0.0330268813070643	0.14085	0.638212	0.43195	0	0.563428	0.19063	0	0.653264	0.51672	0	0.478617	0.07155	0	.	.	5.52	2.75	0.31439	4.111000	0.57577	7.264000	0.57969	-0.119000	0.14319	1.000000	0.71638	1.000000	0.68203	0.128000	0.19490	0.2189:0.0:0.7811:0.0	11.167	0.47776	744	0.52588	Integrin alpha-2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008056	0.005051	0.009511	0.011696	0.000000	0.008621	0.006098	0.007576	0.08333	822.83	35	chr3	37743963	.	G	A	822.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.98;DP=238;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=-0.023;SOR=0.701	GT:AD:DP:GQ:PL	0/1:29,29:58:99:833,0,690	5	0	1	0
chr3	37995774	37995774	A	T	exonic	VILL	.	nonsynonymous SNV	VILL:NM_001385039:exon5:c.A377T:p.H126L,VILL:NM_015873:exon5:c.A377T:p.H126L,VILL:NM_001385038:exon6:c.A377T:p.H126L	.	426	1091	4	1	0	6	0.00274223	.	.	.	2431429	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.157	0.0504856113366	0.0002	.	0.0005	0	0.0003	0	0.0002	0.0007	0	0.0004	0.0004463	69	154602	rs139825675	0.0005	0.0005	0.0005	0.0005	0.0012	0.0005	0.0005	0.0006	0.0006	0.0001	0.0002	0.0003	0	0.0001	0.0012	0.0006	0.0004	0.0004	0.0004	0.0004	0.0005	0.0003	0.0008	0.0003	0.0003	0.0006	0.0005	0.0001	0	0.0001	0.0003	0	0	0	0.0007	0.0005	0.0008	0.043	0.48642	D	0.043	0.49942	D	0.048	0.22112	B	0.062	0.26930	B	0.000064	0.52346	N	0.196977	1	0.81001	D	2.95	0.84923	M	1.81	0.25182	T	-9.6	0.98726	D	0.406	0.44857	-0.9362	0.43211	T	0.099	0.36805	T	10	0.12157744	0.23050	T	0.050486	0.64262	D	0.157	0.40909	.	.	0.101711395817	0.09552	0.7157881439821144	0.71521	0.259309898795	0.28487	0.505516648293	0.39597	T	0.487199	0.81336	T	-0.382251	0.03016	T	-0.395967	0.33855	T	0.28255096077919	0.24278	T	0.760924	0.38541	T	0.393931	0.60309	0.2976285	0.55796	0.393931	0.60310	0.2976285	0.55795	-9.052	0.68032	D	.	.	0.088	0.35643	B	.;.;.;.	.;.;.;.	2.606185	0.33840	19.46	0.9216910557329302	0.21533	0.91865	0.54431	D	AEFDGBHCI	0.402306	0.47645	N	-0.249957272806029	0.31105	1.740857	-0.299824821464707	0.28105	1.564411	0.999999774972946	0.74766	0.608746	0.35421	0	0.627608	0.54475	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.9	2.35	0.28166	5.198000	0.64983	3.965000	0.40779	0.691000	0.84096	1.000000	0.71638	0.996000	0.32793	0.821000	0.38685	0.7138:0.0:0.0:0.2862	9.681	0.39237	653	0.62661	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.000000	0.08333	1155.83	33	chr3	37995774	.	A	T	1155.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.05;DP=305;ExcessHet=0;FS=0.666;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.76;ReadPosRankSum=0.122;SOR=0.805	GT:AD:DP:GQ:PL	0/1:82,50:132:99:1166,0,1984	5	0	1	0
chr3	42693208	42693208	G	A	exonic	HHATL	.	nonsynonymous SNV	HHATL:NM_020707:exon11:c.C1259T:p.S420L	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.0974498220062	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1437602759	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.033	0.53072	D	0.994	0.66517	D	0.882	0.62632	P	0.001762	0.38052	N	0.222920	0.99997	0.53665	D	2.11	0.58565	M	2.01	0.21291	T	-3.79	0.71639	D	0.699	0.70351	-0.9225	0.45210	T	0.124	0.42778	T	10	0.81322	0.80585	D	0.09745	0.76775	D	0.242	0.54781	0.474	0.55020	0.57068417637	0.56733	0.7414722800230792	0.74093	0.414849778158	0.42153	0.628779888153	0.56971	T	0.183014	0.53521	T	-0.0886688	0.38296	T	-0.365143	0.37457	T	0.984270870685577	0.75639	D	0.863014	0.55864	D	0.3464526	0.56789	0.2822838	0.54215	0.3464526	0.56789	0.2822838	0.54214	-10.845	0.78801	D	.	.	0.303	0.53340	B	.;.	.;.	5.006816	0.83121	28.0	0.99877732904709393	0.95410	0.99347	0.94827	D	AEFDBI	0.971105	0.99324	D	0.500447484227158	0.67115	5.039027	0.397067176376335	0.61383	4.33773	0.99999999742562	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.46	3.46	0.38718	7.319000	0.78342	9.825000	0.81827	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	15.005	0.71158	377	0.83897	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	632.83	36	chr3	42693208	.	G	A	632.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.941;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=0.176;SOR=0.613	GT:AD:DP:GQ:PL	0/1:39,27:66:99:643,0,1131	5	0	1	0
chr3	44734611	44734611	A	C	exonic	ZNF501	.	nonsynonymous SNV	ZNF501:NM_001258280:exon3:c.A190C:p.N64H,ZNF501:NM_145044:exon3:c.A190C:p.N64H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00245316927158	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.12345	T	0.63	0.07196	T	0.061	0.23190	B	0.012	0.16012	B	.	.	.	.	0.999639	0.20820	N	0.94	0.23649	L	1.24	0.36691	T	-1.27	0.31981	N	0.215	0.24010	-1.0122	0.26228	T	0.035	0.15030	T	9	0.04948926	0.04545	T	0.002453	0.04840	T	0.049	0.13647	0.322	0.30226	0.163833314356	0.15978	0.014837697479732686	0.01440	0.0376400528977	0.03990	0.464997470379	0.33994	T	0.007784	0.07165	T	-0.323755	0.06595	T	-0.702828	0.05672	T	0.117646973983196	0.14197	T	.	.	.	0.069912195	0.15355	0.08145091	0.18512	0.069912195	0.15355	0.08145091	0.18512	-2.354	0.04859	T	.	.	0.265	0.50204	B	.;.	.;.	2.183138	0.27831	17.59	0.98572149444059765	0.43128	0.01823	0.05666	N	AEFBHCI	0.064560	0.12542	N	-0.893597451941599	0.10994	0.528213	-0.803120552172903	0.14420	0.753353	0.00271968142547083	0.09654	0.562547	0.31514	0	0.588066	0.40923	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.07	1.91	0.24841	-0.777000	0.04775	1.545000	0.27254	0.756000	0.94297	0.000000	0.06391	0.002000	0.18203	1.000000	0.97212	0.8852:0.0:0.1148:0.0	7.158	0.24823	323	0.86843	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	.	.	.	.	.	.	.	.	0.08333	992.83	39	chr3	44734611	.	A	C	992.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.598;DP=270;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=1.38;SOR=0.779	GT:AD:DP:GQ:PL	0/1:29,39:68:99:1003,0,689	5	0	1	0
chr3	48600977	48600977	C	T	exonic	UQCRC1	.	nonsynonymous SNV	UQCRC1:NM_003365:exon8:c.G964A:p.V322M	.	.	.	.	.	.	.	.	0.0001	0.214	.	3184346	Parkinsonism_with_polyneuropathy	MONDO:MONDO:0036193,MedGen:C5543299,OMIM:619279,Orphanet:611237	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.031	0.00704802060989	.	0.000199681	2.537e-05	0	0	0.0003	0	0	0	0	3.84e-05	1	26028	rs555118861	1.93e-05	1.984e-05	1.914e-05	1.946e-05	0.0002	1.338e-05	1.152e-05	6.553e-05	4.477e-05	0	0	0	0.0002	0	0	1.45e-05	1.672e-05	5.839e-05	1.969e-05	1.968e-05	0	4.026e-05	0.0004	5.24e-06	2.45e-06	6.847e-05	2.865e-05	0	0	0	0	0.0004	0	0	0	0	0.0002	0.138	0.25873	T	0.124	0.35455	T	0.006	0.13644	B	0.009	0.14300	B	0.274322	0.15066	N	0.698480	1	0.08975	N	1.445	0.36358	L	1.49	0.31470	T	0.13	0.05503	N	0.277	0.31365	-1.0175	0.24528	T	0.055	0.23338	T	10	0.029720873	0.01098	T	0.007048	0.18676	T	0.031	0.07369	0.299	0.26522	0.110078149338	0.10416	0.5786638119495838	0.57795	0.224731528556	0.25008	0.240545168519	0.02840	T	0.050326	0.28563	T	-0.504882	0.00537	T	-0.670856	0.07553	T	0.0563718029468816	0.06585	T	0.686231	0.29475	T	0.06463097	0.13731	0.08789297	0.20460	0.06463097	0.13730	0.08789297	0.20459	-4.06	0.24698	T	0.2135140059862228	0.28670	0.101	0.17657	B	.	.	0.827799	0.11993	8.550	0.965894634029831	0.30365	0.12704	0.17429	N	AEFGBCI	0.293316	0.40397	N	-0.815386738009668	0.12917	0.6328054	-0.826307809162537	0.13858	0.7211664	0.999998154002089	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.72	-1.81	0.07456	0.294000	0.18803	-1.591000	0.05105	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.907000	0.44265	0.0:0.4:0.0:0.6	11.699	0.50827	10	0.99061	Peptidase M16, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1983.83	37	chr3	48600977	.	C	T	1983.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.197;DP=303;ExcessHet=0;FS=1.455;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.4;ReadPosRankSum=-0.21;SOR=0.778	GT:AD:DP:GQ:PL	0/1:51,70:121:99:1994,0,1336	5	0	1	0
chr3	49793599	49793599	A	G	exonic	CDHR4	.	nonsynonymous SNV	CDHR4:NM_001007540:exon12:c.T1607C:p.I536T	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.360	0.0773727397633	0.0020	0.000599042	0.0018	0	0	0	0	0.0034	0.0053	0.0008	0.0005821	90	154602	rs115485248	0.0018	0.0018	0.0018	0.0018	0.0021	0.0018	0.0017	0.0020	0.0020	0.0003	0.0004	0.0002	0	0.0029	0.0004	0.0021	0.0015	0.0008	0.0017	0.0017	0.0019	0.0016	0.0032	0.0016	0.0015	0.0028	0.0027	0.0004	0	0.0003	0	0	0.0021	0	0.0032	0.0014	0.0002	0.004	0.65419	D	0.004	0.74150	D	0.999	0.77913	D	0.969	0.72001	D	.	.	.	.	0.725307	0.29882	N	3.215	0.89331	M	0.94	0.43672	T	-3.31	0.65972	D	0.658	0.66787	-0.4347	0.70908	T	0.279	0.65037	T	9	0.028095365	0.00945	T	0.077373	0.72754	D	0.360	0.68052	.	.	0.526692645728	0.52315	0.722548661533945	0.72198	0.205290401865	0.22950	0.604908585548	0.53598	T	0.14076	0.47547	T	-0.265398	0.12274	T	-0.154284	0.58863	T	0.117330537321457	0.14166	T	0.732927	0.34859	T	0.33489516	0.55870	0.40180543	0.64680	0.33489516	0.55870	0.40180543	0.64680	-8.808	0.66453	D	.	.	0.662	0.71415	P	.	.	4.180358	0.62926	24.5	0.9974983819292409	0.84152	0.93128	0.57400	D	AEFCI	0.435568	0.49615	N	0.739390245836516	0.82211	7.707319	0.695872774788674	0.82065	7.675636	0.999999940947598	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.67	5.67	0.87673	4.689000	0.61410	11.128000	0.86723	0.754000	0.88378	0.724000	0.28861	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	12.332	0.54371	2	0.99499	Cadherin-like|Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	878.83	38	chr3	49793599	.	A	G	878.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.15;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=-0.489;SOR=0.793	GT:AD:DP:GQ:PL	0/1:34,33:67:99:889,0,894	5	0	1	0
chr3	75730451	75730451	T	G	exonic	ZNF717	.	stoploss	ZNF717:NM_001324027:exon7:c.A2396C:p.X799S	.	432	314	768	8	0	784	0.555241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs75952318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	13019.5	77	chr3	75730451	.	T	G	13019.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.837;DP=693;ExcessHet=11.5949;FS=10.929;MLEAC=6;MLEAF=0.5;MQ=54.36;MQRankSum=-6.149;QD=19.06;ReadPosRankSum=0.458;SOR=0.276	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,37:99:99:0|1:75730450_C_T:1347,0,2492:75730450	0	0	6	0
chr3	75730602	75730602	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001324027:exon7:c.G2245A:p.E749K	.	432	1078	12	0	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1333683426	0	1.272e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0005	0.0100	0.0004	0.0006	0.0044	0.0004	0.0004	0.0029	0.0024	0.0007	0	0.0004	0.0003	0.0010	0.0005	0	0.0002	0.0005	0.0044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	50.83	59	chr3	75730602	.	C	T	50.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.147;DP=373;ExcessHet=0;FS=4.956;MLEAC=1;MLEAF=0.083;MQ=55.11;MQRankSum=-4.272;QD=0.86;ReadPosRankSum=-0.268;SOR=2.066	GT:AD:DP:GQ:PL	0/1:53,6:59:61:61,0,2084	5	0	1	0
chr3	75736884	75736884	-	A	exonic	ZNF717	.	stoploss	ZNF717:NM_001128223:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290208:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290209:exon5:c.2588dupT:p.*865delinsLNTQPTPLWLLLQISPCSV*	.	408	790	324	0	0	324	0.170168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0673505	1753	26028	rs149076283	2.008e-05	1.984e-05	1.697e-05	2.328e-05	2.801e-05	1.393e-05	1.199e-05	1.594e-05	1.347e-05	0	0	0	2.801e-05	0	0	2.322e-05	1.729e-05	1.281e-05	1.313e-05	1.312e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	4036.48	106	chr3	75736884	.	G	GA	4036.48	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.401;DP=744;ExcessHet=6.1542;FS=0.598;MLEAC=5;MLEAF=0.417;MQ=56.86;MQRankSum=-7.488;QD=6.61;ReadPosRankSum=0.624;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,9:71:99:0|1:75736884_G_GA:186,0,2576:75736884	1	0	5	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F,ZNF717:NM_001290208:exon5:c.C2732T:p.S911F,ZNF717:NM_001290209:exon5:c.C2582T:p.S861F	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00165921998894	.	.	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs77747132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	-1.16	0.29727	N	0.094	0.07398	-0.9320	0.43844	T	0.010	0.03856	T	9	0.06138295	0.07688	T	0.001659	0.02728	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.004917126878572224	0.00463	.	.	0.422835052013	0.28227	T	.	.	.	-0.173524	0.24704	T	-0.487032	0.23703	T	0.330072145045039	0.26228	T	0.353565	0.07967	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.36732	B	.	.	1.343956	0.17510	13.20	0.99194171637765427	0.55083	0.00118	0.00744	N	AEFDBCI	0.022343	0.01105	N	-1.23987897260233	0.04434	0.2001198	-1.31939943106607	0.04180	0.1966005	0.999947639461096	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.54	-0.734	0.10579	-0.650000	0.05477	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3382:0.0:0.6618:0.0	5.509	0.16158	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	8233.55	110	chr3	75736891	.	G	A	8233.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.281;DP=746;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=56.82;MQRankSum=-7.424;QD=11.17;ReadPosRankSum=0.579;SOR=0.684	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,10:76:99:0|1:75736884_G_GA:221,0,2741:75736884	0	0	6	0
chr3	75736920	75736920	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2703T:p.E901D,ZNF717:NM_001290208:exon5:c.G2703T:p.E901D,ZNF717:NM_001290209:exon5:c.G2553T:p.E851D	.	404	577	541	0	0	541	0.319174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00110452594305	.	.	.	.	.	.	.	.	.	.	0.071231	1854	26028	rs111230396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	0.14497	T	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.23	0.06931	T	-1.02	0.26843	N	0.085	0.06190	-0.9483	0.41263	T	0.010	0.03627	T	9	0.058318764	0.06838	T	0.001105	0.01312	T	0.103	0.29403	.	.	0.0138822411134	0.00435	0.0015786287646668746	0.00145	.	.	0.445909142494	0.31386	T	.	.	.	-0.17615	0.24310	T	-0.490804	0.23306	T	0.0638085464059829	0.07754	T	0.121888	0.00944	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23500	B	.	.	0.610910	0.09792	6.559	0.89825184067637265	0.19134	0.00196	0.01131	N	AEFDBCI	0.022523	0.01136	N	-1.22540343885655	0.04634	0.2095599	-1.32633955667091	0.04093	0.1923357	0.999959091878699	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	0.741	-0.249	0.12368	1.331000	0.33398	.	.	0.482000	0.22156	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.6566:0.0:0.3434	3.115	0.05989	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	8377.55	114	chr3	75736920	.	C	A	8377.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.446;DP=776;ExcessHet=11.5949;FS=1.202;MLEAC=6;MLEAF=0.5;MQ=55.33;MQRankSum=-6.069;QD=10.84;ReadPosRankSum=0.12;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,10:89:99:0|1:75736908_C_T:182,0,3287:75736908	0	0	6	0
chr3	75736928	75736928	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2695A:p.V899I,ZNF717:NM_001290208:exon5:c.G2695A:p.V899I,ZNF717:NM_001290209:exon5:c.G2545A:p.V849I	.	411	571	539	1	0	541	0.32145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.00121036639884	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74593105	0.0001	0.0002	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	0.0008	8.267e-05	0	8.274e-05	0	0.0026	8.845e-05	0.0003	0.0004	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0	0	0	0	0	0.0001	0	0.0006	0.38	0.11191	T	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.32	0.06214	T	0.07	0.06138	N	0.026	0.00527	-0.9474	0.41414	T	0.008	0.02926	T	9	0.09491852	0.16914	T	0.00121	0.01583	T	0.112	0.31546	.	.	0.0138822411134	0.00435	7.206520044993825E-4	0.00066	.	.	0.389449685812	0.23592	T	.	.	.	-0.217344	0.18358	T	-0.549976	0.17329	T	0.104380803558879	0.12832	T	0.0709929	0.00518	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08948	B	.	.	0.653467	0.10217	6.957	0.91771767316116259	0.21074	0.00105	0.00673	N	AEFDBCI	0.020476	0.00813	N	-1.22446334774296	0.04648	0.2101895	-1.31163951798627	0.04279	0.2014874	0.999941810098761	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.29	0.364	0.15359	-0.265000	0.08671	.	.	0.482000	0.22156	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7401:0.0:0.2599	3.729	0.08012	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	8051.55	115	chr3	75736928	.	C	T	8051.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.94;DP=759;ExcessHet=11.5949;FS=1.205;MLEAC=6;MLEAF=0.5;MQ=54.84;MQRankSum=-7.061;QD=10.61;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,10:90:99:0|1:75736908_C_T:179,0,3329:75736908	0	0	6	0
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K,ZNF717:NM_001290208:exon5:c.G2611A:p.E871K,ZNF717:NM_001290209:exon5:c.G2461A:p.E821K	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0010545400782	.	.	.	.	.	.	.	.	.	.	0.0444521	1157	26028	rs75096310	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.934	0.02228	T	0.289	0.21078	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.16	0.19166	T	-0.66	0.19085	N	0.072	0.04547	-0.9570	0.39735	T	0.015	0.05946	T	9	0.029257268	0.01053	T	0.001055	0.01191	T	0.117	0.32689	.	.	0.0138822411134	0.00435	0.0019455304358727955	0.00180	.	.	0.341237813234	0.16623	T	.	.	.	-0.238107	0.15590	T	-0.5798	0.14563	T	0.0632113878371354	0.07664	T	0.059894	0.00434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26200	B	.	.	1.575632	0.20165	14.62	0.84215655419281732	0.15163	0.00232	0.01297	N	AEFDBHCI	0.027833	0.02344	N	-1.41055986614139	0.02545	0.1125291	-1.43935631045541	0.02868	0.1327212	0.999943869570154	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.756233	0.99697	0	.	.	1.92	-0.00832	0.13329	-3.006000	0.00714	.	.	-1.281000	0.01268	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2577:0.4021:0.0:0.3403	2.041	0.03335	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	7373.61	117	chr3	75737012	.	C	T	7373.61	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.452;DP=824;ExcessHet=6.1542;FS=0;MLEAC=5;MLEAF=0.417;MQ=53.1;MQRankSum=-5.8;QD=10.84;ReadPosRankSum=-0.019;SOR=0.712	GT:AD:DP:GQ:PL	0/1:90,37:127:99:879,0,3176	1	0	5	0
chr3	75737060	75737060	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2563C:p.S855P,ZNF717:NM_001290208:exon5:c.T2563C:p.S855P,ZNF717:NM_001290209:exon5:c.T2413C:p.S805P	.	379	596	534	13	0	560	0.319635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.000628152010991	.	.	.	.	.	.	.	.	.	.	0.0548256	1427	26028	rs77715040	8.282e-06	8.895e-06	4.114e-06	1.25e-05	1.183e-05	4.42e-06	3.49e-06	5.34e-06	3.9e-06	0	0	0	0	0	0	9.948e-06	0	1.183e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.013	0.53900	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.15	0.07820	T	-3.1	0.63554	D	0.116	0.10483	-1.0427	0.16503	T	0.033	0.14029	T	9	0.09637886	0.17284	T	6.28E-4	0.00319	T	0.160	0.41473	.	.	0.0138822411134	0.00435	0.009052444588593512	0.00868	.	.	0.566062688828	0.48122	T	.	.	.	-0.167764	0.25573	T	-0.478758	0.24578	T	0.297621607780457	0.24905	T	0.79872	0.44372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550	0.66781	A	.	.	2.370076	0.30412	18.43	0.98191942080542327	0.39045	0.00784	0.03216	N	AEFDBHCI	0.085768	0.17389	N	-0.771083796564405	0.14068	0.6978022	-0.955324100233036	0.10800	0.5462925	0.999957637849619	0.48110	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	-2.936000	0.00751	.	.	0.610000	0.48991	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	10091.9	126	chr3	75737060	.	A	G	10091.9	.	AC=5;AF=0.5;AN=10;BaseQRankSum=-1.234;DP=933;ExcessHet=6.1542;FS=1.729;MLEAC=5;MLEAF=0.5;MQ=53.3;MQRankSum=-6.147;QD=12.74;ReadPosRankSum=0.642;SOR=0.829	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:89,57:146:99:.:.:1172,0,2998:.	0	0	5	1
chr3	75737092	75737092	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290208:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290209:exon5:c.G2381A:p.C794Y	.	382	490	638	12	0	662	0.403167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.00342039862449	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs139633377	6.975e-07	1.369e-06	1.383e-06	0	9.107e-07	0	0	.	.	0	0	0	0	0	0	9.107e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.94	0.84919	D	-7.52	0.95102	D	0.208	0.23125	-0.0500	0.81206	T	0.770	0.92171	D	9	0.30394778	0.47923	T	0.00342	0.07694	T	0.402	0.71558	.	.	0.578941962908	0.57563	0.02342305612139971	0.02294	.	.	0.721298933029	0.70236	T	.	.	.	0.128852	0.67249	D	-0.0526902	0.66838	D	0.914417432390081	0.57105	D	0.80432	0.45191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.82003	P	.	.	2.732693	0.35776	19.99	0.91222742361264963	0.20479	0.19094	0.20525	N	AEFDBHCI	0.116885	0.22922	N	0.127215796981728	0.47735	2.995096	-0.201159305983142	0.31494	1.782947	0.999998666164745	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	0.518	0.16228	4.030000	0.56971	.	.	0.487000	0.22268	0.993000	0.37899	0.000000	0.08366	0.025000	0.12405	0.0:0.7965:0.0:0.2035	5.69	0.17097	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	14603.5	144	chr3	75737092	.	C	T	14603.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.748;DP=978;ExcessHet=11.5949;FS=4.135;MLEAC=6;MLEAF=0.5;MQ=55.3;MQRankSum=-7.283;QD=15.1;ReadPosRankSum=1.16;SOR=0.971	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,56:147:99:0|1:75737092_C_T:2037,0,3653:75737092	0	0	6	0
chr3	75737094	75737094	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2529T:p.R843S,ZNF717:NM_001290208:exon5:c.A2529T:p.R843S,ZNF717:NM_001290209:exon5:c.A2379T:p.R793S	.	386	488	636	12	0	660	0.403423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.00139168871644	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149660902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.08067	T	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	1	0.29002	N	.	.	.	2.5	0.14408	T	0.12	0.05604	N	0.171	0.18239	-0.9656	0.38092	T	0.015	0.05849	T	9	0.041348934	0.02782	T	0.001392	0.02037	T	0.187	0.46274	.	.	0.0138822411134	0.00435	0.003970010212323737	0.00371	.	.	0.350422680378	0.17984	T	.	.	.	-0.230087	0.16639	T	-0.568281	0.15607	T	0.0363333960522166	0.03039	T	0.50295	0.15803	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.57473	A	.	.	0.927565	0.13027	9.531	0.78772853777929608	0.12446	0.00288	0.01547	N	AEFDBHCI	0.032938	0.03815	N	-1.56864543804847	0.01428	0.06230873	-1.65490256639135	0.01351	0.06097677	0.999968767302643	0.48965	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	-1.65	0.07849	-1.617000	0.02154	.	.	-1.209000	0.01353	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2432:0.1819:0.2457:0.3291	0.098	0.00042	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	14688.5	146	chr3	75737094	.	T	A	14688.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.276;DP=982;ExcessHet=11.5949;FS=4.135;MLEAC=6;MLEAF=0.5;MQ=55.38;MQRankSum=-7.608;QD=15.03;ReadPosRankSum=0.959;SOR=0.991	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,58:152:99:0|1:75737092_C_T:2112,0,3772:75737092	0	0	6	0
chr3	75737105	75737105	T	A	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.A2518T:p.K840X,ZNF717:NM_001290208:exon5:c.A2518T:p.K840X,ZNF717:NM_001290209:exon5:c.A2368T:p.K790X	.	386	483	643	10	0	663	0.406998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0502536	1308	26028	rs113251431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.648710	0.92795	33	0.9890268774789388	0.48217	0.46426	0.27757	N	AEFDBHCI	0.042646	0.06644	N	0.188175099212538	0.50632	3.251287	-0.154561253355241	0.33234	1.898897	0.999999961661622	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	3.121000	0.50131	.	.	0.539000	0.25131	1.000000	0.71638	0.000000	0.08366	0.011000	0.09372	0.0:0.0:0.0:1.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	14221.5	141	chr3	75737105	.	T	A	14221.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.488;DP=959;ExcessHet=11.5949;FS=6.075;MLEAC=6;MLEAF=0.5;MQ=55.85;MQRankSum=-8.077;QD=14.91;ReadPosRankSum=0.522;SOR=1.107	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,52:146:99:0|1:75737092_C_T:1901,0,3791:75737092	0	0	6	0
chr3	75737127	75737127	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290208:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290209:exon5:c.T2346G:p.H782Q	.	384	545	585	8	0	601	0.355411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	0.0028455442474	.	.	.	.	.	.	.	.	.	.	0.064008	1666	26028	rs79811623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-5.94	0.89093	D	0.203	0.22486	0.069	0.83596	D	0.747	0.91362	D	9	0.25438643	0.42818	T	0.002846	0.05956	T	0.462	0.75889	.	.	0.358340041657	0.35441	0.0053718602075851244	0.00508	.	.	0.740122795105	0.72990	T	.	.	.	0.0996688	0.64257	D	-0.0946091	0.63811	T	0.721620917320251	0.41781	D	0.784422	0.42203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.946	0.86443	P	.	.	1.863242	0.23667	16.11	0.75650377613460507	0.11157	0.04138	0.09621	N	AEFDBHCI	0.080253	0.16223	N	-0.306900910275906	0.28885	1.597038	-0.631394962146373	0.18688	0.9994579	0.99995045990878	0.48110	0.632932	0.41330	0	0.666794	0.63253	0	0.002978	0.00130	3	0.756233	0.99697	0	.	.	1.59	0.372	0.15405	0.061000	0.14242	.	.	0.575000	0.29119	0.037000	0.20830	0.000000	0.08366	0.001000	0.02609	0.8077:0.0:0.1923:0.0	4.797	0.12647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	12533.5	142	chr3	75737127	.	A	C	12533.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.717;DP=908;ExcessHet=11.5949;FS=9.645;MLEAC=6;MLEAF=0.5;MQ=56.36;MQRankSum=-9.402;QD=13.9;ReadPosRankSum=0.942;SOR=1.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,44:133:99:0|1:75737092_C_T:1580,0,3515:75737092	0	0	6	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290208:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290209:exon5:c.2301_2309del:p.E768_R770del	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	6966.51	126	chr3	75737163	.	CCTACATTCT	C	6966.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.84;DP=751;ExcessHet=11.5949;FS=19.854;MLEAC=6;MLEAF=0.5;MQ=56.8;MQRankSum=-9.984;QD=9.4;ReadPosRankSum=0.438;SOR=1.835	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,27:125:99:0|1:75737151_G_A:789,0,3999:75737151	0	0	6	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S,ZNF717:NM_001290208:exon5:c.C2104T:p.P702S,ZNF717:NM_001290209:exon5:c.C1954T:p.P652S,ZNF717:NM_001324027:exon5:c.C2104T:p.P702S	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0020371222204	.	.	.	.	.	.	.	.	.	.	0.0847549	2206	26028	rs80089603	0.0009	0.0009	0.0010	0.0008	0.0241	0.0009	0.0009	0.0227	0.0221	0.0241	0.0014	0.0065	0.0009	0	0.0016	6.293e-05	0.0031	0.0001	0.0071	0.0074	0.0072	0.0070	0.0235	0.0067	0.0066	0.0223	0.0218	0.0235	0	0.0024	0.0084	0.0025	0	0.0034	4.409e-05	0.0071	0.0006	0.014	0.53172	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.28	0.06523	T	-2.65	0.56787	D	0.082	0.05799	-0.9616	0.38877	T	0.011	0.04274	T	9	0.0059270263	0.00133	T	0.002037	0.03721	T	0.231	0.53208	.	.	0.0297737177859	0.01360	0.030845822720570865	0.03033	.	.	0.227284103632	0.01773	T	.	.	.	-0.138909	0.30065	T	-0.437309	0.29111	T	0.612736403942108	0.36911	D	0.140186	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.	.	2.134754	0.27180	17.37	0.9793642767632269	0.36999	0.50764	0.28739	D	AEFDBHCI	0.281183	0.39482	N	-0.656716686745216	0.17265	0.8869353	-0.759493038371137	0.15489	0.8148735	0.999998040796218	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.27	0.281	0.14938	5.209000	0.65041	.	.	0.560000	0.28382	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7085:0.2915	6.406	0.20867	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	18140.6	125	chr3	75737519	.	G	A	18140.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.512;DP=968;ExcessHet=11.5949;FS=2.432;MLEAC=6;MLEAF=0.5;MQ=56.18;MQRankSum=-5.291;QD=19.83;ReadPosRankSum=0.906;SOR=0.703	GT:AD:DP:GQ:PL	0/1:75,56:131:99:2021,0,2901	0	0	6	0
chr3	75737590	75737590	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2033C:p.M678T,ZNF717:NM_001290208:exon5:c.T2033C:p.M678T,ZNF717:NM_001290209:exon5:c.T1883C:p.M628T,ZNF717:NM_001324027:exon5:c.T2033C:p.M678T	.	380	344	789	9	0	807	0.539799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000918803670254	.	.	.	.	.	.	.	.	.	.	0.0043031	112	26028	rs79103664	2.155e-06	3.424e-06	1.417e-06	2.914e-06	1.862e-06	5.7e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.862e-06	1.736e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.06049	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	0.82	0.01813	N	0.035	0.01004	-0.9135	0.46415	T	0.010	0.03492	T	9	0.047419846	0.04058	T	9.19E-4	0.00889	T	0.064	0.18567	.	.	0.0138822411134	0.00435	0.020703910282481648	0.02023	.	.	0.269451141357	0.06069	T	.	.	.	-0.256687	0.13292	T	-0.606489	0.12271	T	0.0260274478999564	0.01409	T	0.0606939	0.00442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30634	B	.	.	-0.571595	0.01651	0.116	0.41969334367691202	0.03062	0.00342	0.01773	N	AEFDBHCI	0.055927	0.10297	N	-1.5270329997039	0.01674	0.07322606	-1.61933844482173	0.01542	0.06986147	0.999968620109732	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-2.35	0.06302	-4.932000	0.00197	.	.	-1.902000	0.00523	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.5391:0.0:0.0:0.4609	5.111	0.14145	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	18889.6	138	chr3	75737590	.	A	G	18889.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.33;DP=1024;ExcessHet=11.5949;FS=0.518;MLEAC=6;MLEAF=0.5;MQ=53.24;MQRankSum=-9.909;QD=18.83;ReadPosRankSum=0.183;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,46:133:99:0|1:75737590_A_G:1619,0,3502:75737590	0	0	6	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R,ZNF717:NM_001290208:exon5:c.A2015G:p.K672R,ZNF717:NM_001290209:exon5:c.A1865G:p.K622R,ZNF717:NM_001324027:exon5:c.A2015G:p.K672R	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.003971670348	.	.	.	.	.	.	.	.	.	.	0.0466805	1215	26028	rs75759940	4.311e-06	4.109e-06	2.835e-06	5.828e-06	5.588e-06	1.55e-06	1.02e-06	2.01e-06	1.32e-06	0	0	0	0	0	0	5.588e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.16	0.07711	T	-0.9	0.24244	N	0.034	0.00942	-0.9500	0.40972	T	0.008	0.02926	T	9	0.049818516	0.04624	T	0.003972	0.09400	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.005655336952012324	0.00535	.	.	0.307848095894	0.11582	T	.	.	.	-0.255831	0.13391	T	-0.60526	0.12373	T	0.0589383841193725	0.07000	T	0.19898	0.02226	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13268	B	.	.	1.223152	0.16170	12.37	0.86139736186920213	0.16339	0.00629	0.02767	N	AEDBHCI	0.051131	0.09005	N	-1.64554763938136	0.01054	0.04572823	-1.67922087383407	0.01232	0.05551315	0.99998526063166	0.51787	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-3.14	0.04928	-0.248000	0.08872	.	.	-1.039000	0.01670	0.792000	0.29619	0.000000	0.08366	0.001000	0.02609	0.0:0.4304:0.3244:0.2451	4.750	0.12430	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	19771.6	132	chr3	75737608	.	T	C	19771.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.15;DP=1043;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=52.93;MQRankSum=-11.35;QD=19.03;ReadPosRankSum=-0.024;SOR=0.67	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,39:132:99:0|1:75737590_A_G:1358,0,3788:75737590	0	0	6	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S,ZNF717:NM_001290208:exon5:c.A2001T:p.R667S,ZNF717:NM_001290209:exon5:c.A1851T:p.R617S,ZNF717:NM_001324027:exon5:c.A2001T:p.R667S	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.00187641351265	.	.	.	.	.	.	.	.	.	.	0.0503688	1311	26028	rs76175438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.96	0.09542	T	-3.88	0.72710	D	0.189	0.20660	-1.0544	0.13198	T	0.045	0.19478	T	9	0.11718443	0.22126	T	0.001876	0.03272	T	0.148	0.39182	.	.	0.0138822411134	0.00435	0.02830632002622666	0.02780	.	.	0.34867143631	0.17727	T	.	.	.	-0.180088	0.23722	T	-0.496461	0.22715	T	0.343506299687112	0.26762	T	0.413359	0.10763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.68127	P	.	.	2.295364	0.29365	18.10	0.84579906210778943	0.15375	0.01716	0.05441	N	AEFDBHCI	0.093535	0.18923	N	-0.671626443351997	0.16833	0.8611102	-0.960126716317775	0.10688	0.5399544	0.999967844770143	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.71	0.405	0.15579	-1.876000	0.01725	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2583:0.0:0.0:0.7417	5.213	0.14647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	20599.6	137	chr3	75737622	.	T	A	20599.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.019;DP=1067;ExcessHet=11.5949;FS=0.521;MLEAC=6;MLEAF=0.5;MQ=53.44;MQRankSum=-10.56;QD=19.38;ReadPosRankSum=-0.787;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,43:132:99:0|1:75737590_A_G:1538,0,3608:75737590	0	0	6	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C,ZNF717:NM_001290208:exon5:c.C1972T:p.R658C,ZNF717:NM_001290209:exon5:c.C1822T:p.R608C,ZNF717:NM_001324027:exon5:c.C1972T:p.R658C	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00153184105349	.	.	.	.	.	.	.	.	.	.	0.0285462	743	26028	rs77826574	6.031e-05	7.327e-05	6.658e-05	5.386e-05	0.0004	4.978e-05	4.582e-05	9.298e-05	6.561e-05	3.182e-05	0.0002	0	5.661e-05	0	0.0004	5.584e-05	0.0001	7.603e-05	5.383e-05	7.906e-05	6.569e-05	4.138e-05	0.0002	2.611e-05	1.869e-05	1.982e-05	1.131e-05	5.043e-05	0	6.658e-05	0	0	0	0	5.922e-05	0	0.0002	0.067	0.35918	T	0.169	0.30534	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.42	0.00999	T	-3.07	0.63207	D	0.105	0.08925	-0.8711	0.50446	T	0.003	0.01026	T	9	0.085398704	0.14414	T	0.001532	0.02394	T	0.133	0.36157	.	.	0.0482279557977	0.04254	0.024591376914232316	0.02410	.	.	0.41199272871	0.26732	T	.	.	.	-0.203544	0.20296	T	-0.530154	0.19270	T	0.177544683043135	0.19078	T	0.0464954	0.00331	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.47195	B	.	.	1.962068	0.24926	16.58	0.86866792728357911	0.16827	0.00357	0.01833	N	AEFDBHCI	0.053804	0.09728	N	-0.680381306712077	0.16582	0.8460908	-0.915126681668579	0.11737	0.5997874	0.999961843561367	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	0.774	0.17665	-0.426000	0.07076	.	.	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.185:0.0:0.5297:0.2853	2.500	0.04348	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	20953.6	128	chr3	75737651	.	G	A	20953.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.58;DP=1070;ExcessHet=11.5949;FS=1.1;MLEAC=6;MLEAF=0.5;MQ=54.4;MQRankSum=-9.631;QD=19.67;ReadPosRankSum=-1.06;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,39:126:99:0|1:75737590_A_G:1376,0,3536:75737590	0	0	6	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X,ZNF717:NM_001290208:exon5:c.T1947A:p.C649X,ZNF717:NM_001290209:exon5:c.T1797A:p.C599X,ZNF717:NM_001324027:exon5:c.T1947A:p.C649X	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0560934	1460	26028	rs79635065	0	6.854e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356406	0.86974	D	0.274176	0.86805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.913720	0.80871	27.4	0.97584058415749686	0.34753	0.02032	0.06091	N	AEFDBHCI	0.117194	0.22969	N	-0.0787027714682291	0.38328	2.243117	-0.47253526279424	0.22914	1.246949	0.999961225158915	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	1.71	0.23429	0.625000	0.24171	.	.	0.517000	0.23534	0.432000	0.26424	0.000000	0.08366	0.002000	0.04165	0.6786:0.0:0.0:0.3214	3.984	0.08997	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	20224.6	113	chr3	75737676	.	A	T	20224.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.82;DP=1046;ExcessHet=11.5949;FS=1.101;MLEAC=6;MLEAF=0.5;MQ=55.24;MQRankSum=-7.284;QD=19.48;ReadPosRankSum=0.094;SOR=0.591	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,37:130:99:0|1:75737590_A_G:1274,0,3794:75737590	0	0	6	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K,ZNF717:NM_001290208:exon5:c.G1783A:p.E595K,ZNF717:NM_001290209:exon5:c.G1633A:p.E545K,ZNF717:NM_001324027:exon5:c.G1783A:p.E595K	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.000881827712362	.	.	.	.	.	.	.	.	.	.	0.0177117	461	26028	rs76496075	2.859e-06	4.104e-06	4.231e-06	1.449e-06	3.707e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.3	0.51157	N	0.164	0.17278	-1.0162	0.24948	T	0.024	0.10058	T	9	0.10873449	0.20253	T	8.82E-4	0.00800	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.00774685412423065	0.00739	.	.	0.43924510479	0.30473	T	.	.	.	-0.112376	0.34376	T	-0.399197	0.33477	T	0.387678323599846	0.28476	T	0.0947905	0.00704	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41357	B	.	.	1.271536	0.16702	12.71	0.99193801633277179	0.55053	0.00456	0.02204	N	AEFDBHCI	0.032518	0.03688	N	-0.56728006039535	0.19945	1.047804	-0.791629829841235	0.14701	0.7694518	0.999948745414493	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.473483	0.07196	2	0.0	0.00009	3	.	.	1.9	0.993	0.18943	-0.240000	0.08970	.	.	0.415000	0.20742	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.8279:0.0:0.1721	6.443	0.21064	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	8497.8	130	chr3	75737840	.	C	T	8497.8	.	AC=5;AF=0.5;AN=10;BaseQRankSum=-1.906;DP=1033;ExcessHet=6.1542;FS=10.627;MLEAC=5;MLEAF=0.5;MQ=59.07;MQRankSum=-4.792;QD=10.04;ReadPosRankSum=-0.081;SOR=0.907	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,27:141:99:0|1:75737814_C_T:750,0,4468:75737814	0	0	5	1
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R,ZNF717:NM_001290208:exon5:c.A1742G:p.H581R,ZNF717:NM_001290209:exon5:c.A1592G:p.H531R,ZNF717:NM_001324027:exon5:c.A1742G:p.H581R	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00618583320825	.	.	.	.	.	.	.	.	.	.	0.0154833	403	26028	rs76729736	5.018e-06	5.475e-06	2.829e-06	7.267e-06	8.44e-05	2.09e-06	1.34e-06	2.237e-05	1.22e-05	3.194e-05	0	0	8.44e-05	0	0	0	0	3.792e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0.0002	0	0	0	0	0	0.031	0.45039	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-7.28	0.94430	D	0.235	0.26475	0.078	0.83778	D	0.691	0.89323	D	9	0.15374556	0.29014	T	0.006186	0.16200	T	0.389	0.70521	.	.	0.26547132957	0.26150	0.029317279208247043	0.02880	.	.	0.705122470856	0.67885	T	.	.	.	0.0863372	0.62775	D	-0.113759	0.62311	T	0.349910879008873	0.27015	T	0.751425	0.37327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.77471	P	.	.	1.529838	0.19634	14.36	0.57541806715571575	0.05792	0.27383	0.23262	N	AEFDBHCIJ	0.135649	0.25605	N	-0.602165132605538	0.18879	0.9837148	-0.767266515667793	0.15298	0.8039007	0.999994431577383	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.76	0.513	0.16200	2.229000	0.42634	.	.	-0.220000	0.07995	1.000000	0.71638	0.067000	0.22148	0.002000	0.04165	0.0:0.1678:0.0:0.8322	5.415	0.15671	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	4782.52	124	chr3	75737881	.	T	C	4782.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.545;DP=905;ExcessHet=6.1542;FS=26.886;MLEAC=5;MLEAF=0.417;MQ=58.38;MQRankSum=-7.065;QD=6.38;ReadPosRankSum=-4.483;SOR=1.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,14:124:99:0|1:75737881_T_C:214,0,4515:75737881	1	0	5	0
chr3	75737891	75737891	-	AAAT	exonic	ZNF717	.	frameshift insertion	ZNF717:NM_001128223:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290208:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290209:exon5:c.1581_1582insATTT:p.L528Ifs*16,ZNF717:NM_001324027:exon5:c.1731_1732insATTT:p.L578Ifs*16	.	353	691	477	1	0	479	0.257389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs369928577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	3573.48	124	chr3	75737891	.	G	GAAAT	3573.48	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.247;DP=867;ExcessHet=6.1542;FS=28.355;MLEAC=5;MLEAF=0.417;MQ=58.29;MQRankSum=-7.54;QD=4.86;ReadPosRankSum=-3.515;SOR=1.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,12:133:99:0|1:75737881_T_C:125,0,4982:75737881	1	0	5	0
chr3	75737893	75737893	-	CTT	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290208:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290209:exon5:c.1579_1580insAAG:p.F527_P864del,ZNF717:NM_001324027:exon5:c.1729_1730insAAG:p.F577_N798del	.	356	680	485	1	0	487	0.263671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs373780316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	3214.48	124	chr3	75737893	.	A	ACTT	3214.48	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.202;DP=857;ExcessHet=6.1542;FS=30.899;MLEAC=5;MLEAF=0.417;MQ=58.25;MQRankSum=-7.518;QD=4.43;ReadPosRankSum=-2.586;SOR=2.094	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,10:132:53:0|1:75737881_T_C:53,0,5010:75737881	1	0	5	0
chr3	75739165	75739165	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G458A:p.G153E,ZNF717:NM_001290208:exon5:c.G458A:p.G153E,ZNF717:NM_001290209:exon5:c.G308A:p.G103E,ZNF717:NM_001324027:exon5:c.G458A:p.G153E	.	426	716	379	1	0	381	0.210149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00294703274024	.	.	.	.	.	.	.	.	.	.	0.0484862	1262	26028	rs79165653	3.574e-06	3.42e-06	1.411e-06	5.798e-06	0.0001	1.05e-06	7.6e-07	5.451e-05	3.56e-05	0	0	0	0.0001	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	-2.66	0.56945	D	0.098	0.07949	-1.0050	0.28457	T	0.128	0.43625	T	9	0.097314626	0.17517	T	0.002947	0.06280	T	0.131	0.35738	.	.	0.0401082797425	0.02173	0.0035025799895356665	0.00327	.	.	0.341039121151	0.16594	T	.	.	.	-0.112133	0.34416	T	-0.398848	0.33517	T	0.425942718982697	0.29910	T	0.179282	0.01775	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43032	B	.	.	0.873037	0.12461	8.992	0.65778472644257657	0.07869	0.01043	0.03895	N	AEFDBCI	.	.	.	-0.639186145779198	0.17776	0.9175853	-0.902737289243841	0.12029	0.6164352	0.999962026466227	0.48965	0.69289	0.55638	0	0.636889	0.57051	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.07	0.059	0.13643	0.766000	0.26225	.	.	0.439000	0.21057	0.011000	0.18532	0.000000	0.08366	0.002000	0.04165	0.0:0.638:0.2172:0.1447	5.008	0.13643	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	1997.52	70	chr3	75739165	.	C	T	1997.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.495;DP=533;ExcessHet=6.1542;FS=31.345;MLEAC=5;MLEAF=0.417;MQ=54.48;MQRankSum=-8.249;QD=4.42;ReadPosRankSum=-0.837;SOR=1.728	GT:AD:DP:GQ:PL	0/1:40,7:47:67:67,0,1356	1	0	5	0
chr3	75739283	75739283	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C340A:p.Q114K,ZNF717:NM_001290208:exon5:c.C340A:p.Q114K,ZNF717:NM_001290209:exon5:c.C190A:p.Q64K,ZNF717:NM_001324027:exon5:c.C340A:p.Q114K	.	430	419	666	7	0	680	0.447958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00164498502106	.	.	.	.	.	.	.	.	.	.	0.0684647	1782	26028	rs4011155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.979	0.02012	T	0.602	0.07894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.91	0.44856	T	-0.17	0.09627	N	0.04	0.01347	-1.0394	0.17495	T	0.052	0.22269	T	9	0.04538721	0.03603	T	0.001645	0.02676	T	0.115	0.32236	.	.	0.0138822411134	0.00435	0.01612756142273845	0.01568	.	.	0.421879798174	0.28096	T	.	.	.	-0.0408301	0.45825	T	-0.296426	0.45101	T	0.177929786236283	0.19104	T	0.340666	0.07366	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43102	B	.	.	0.246741	0.06266	2.719	0.63846773733670814	0.07333	0.00471	0.02257	N	AEFDBCI	.	.	.	-0.990502388475167	0.08805	0.414299	-1.12680793005723	0.07191	0.3488778	0.99994075275372	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.002978	0.00130	3	0.264475	0.05362	3	.	.	2.13	-0.13	0.12839	0.783000	0.26463	.	.	0.493000	0.22426	0.008000	0.17931	0.055000	0.21918	0.006000	0.07323	0.0:0.4319:0.5681:0.0	8.996	0.35214	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	4007.55	43	chr3	75739283	.	G	T	4007.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.04;DP=498;ExcessHet=11.5949;FS=1.149;MLEAC=6;MLEAF=0.5;MQ=52.51;MQRankSum=-4.23;QD=8.47;ReadPosRankSum=1.94;SOR=0.837	GT:AD:DP:GQ:PL	0/1:40,19:59:99:313,0,1129	0	0	6	0
chr3	81761503	81761503	C	T	exonic	GBE1	.	nonsynonymous SNV	GBE1:NM_000158:exon1:c.G15A:p.M5I	Glycogen storage disease IV, Autosomal recessive;Polyglucosan body disease, adult form, Autosomal recessive	1	1519	1	1	0	3	0.000986518	.	.	.	434587	Adult_polyglucosan_body_disease|not_provided|Glycogen_storage_disease,_type_IV|GBE1-related_disorder|not_specified|Glycogen_storage_disease_IV,_classic_hepatic	MONDO:MONDO:0009897,MedGen:C1849722,OMIM:263570,Orphanet:206583|MedGen:C3661900|MONDO:MONDO:0009292,MedGen:C0017923,OMIM:232500,Orphanet:367|MedGen:CN239402|MedGen:CN169374|MedGen:C1856301	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.024	0.00348851481564	0.0010	.	0.0008	0.0006	0.0006	0	0	0.0013	0	0.0002	0.0005951	92	154602	rs62267114	0.0015	0.0015	0.0016	0.0015	0.0019	0.0015	0.0015	0.0018	0.0018	0.0002	0.0007	3.849e-05	0	0	0.0006	0.0019	0.0011	0.0001	0.0012	0.0012	0.0012	0.0011	0.0020	0.0010	0.0010	0.0018	0.0016	0.0006	0	0.0008	0	0	0	0	0.0020	0.0024	0	0.55	0.06585	T	0.23	0.25135	T	0.0	0.02946	B	0.0	0.01387	B	0.598716	0.05633	U	1.413370	1	0.08975	N	0	0.06538	N	2.39	0.15724	T	-0.06	0.07882	N	0.12	0.11054	-0.9739	0.36366	T	0.021	0.08778	T	10	0.009051472	0.00205	T	0.003489	0.07908	T	0.024	0.04979	0.36	0.36385	0.202086224978	0.19791	0.47543763865538186	0.47462	0.0322088536778	0.03353	0.670867919922	0.62962	T	0.080025	0.36266	T	-0.652722	0.00070	T	-0.715293	0.05026	T	0.0025677427290719	0.00027	T	0.312169	0.06100	T	0.30917585	0.53715	0.21100564	0.45511	0.30917585	0.53715	0.21100564	0.45510	-2.716	0.07438	T	.	.	0.138	0.30238	B	.	.	0.557087	0.09254	6.039	0.92828722563206512	0.22360	0.00906	0.03544	N	ALL	0.039322	0.05693	N	-1.13790994922061	0.05981	0.2741486	-1.15391866656661	0.06697	0.3232697	0.99999999640944	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	2.29	1.39	0.21325	-0.644000	0.05512	-0.651000	0.08028	0.500000	0.22704	0.000000	0.06391	0.000000	0.08366	0.112000	0.18829	0.0:0.809:0.0:0.191	4.649	0.11971	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	.	.	.	.	.	.	.	.	0.08333	214.83	35	chr3	81761503	.	C	T	214.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.644;DP=161;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=1.2;SOR=0.627	GT:AD:DP:GQ:PL	0/1:8,10:18:99:225,0,214	5	0	1	0
chr3	87264357	87264357	T	C	exonic	POU1F1	.	nonsynonymous SNV	POU1F1:NM_000306:exon3:c.A370G:p.M124V,POU1F1:NM_001122757:exon3:c.A448G:p.M150V	Pituitary hormone deficiency, combined, 1, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	293054	POU1F1-related_disorder|Combined_Pituitary_Hormone_Deficiency,_Recessive|not_specified|Pituitary_hormone_deficiency,_combined,_1|not_provided	.|MedGen:CN239344|MedGen:CN169374|MONDO:MONDO:0024464,MedGen:C2751608,OMIM:613038|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.373	0.0245633569571	0.0012	0.000199681	0.0018	0.0003	0.0004	0	0.0050	0.0024	0.0033	0.0012	0.001727	267	154602	rs143373007	0.0025	0.0025	0.0025	0.0024	0.0027	0.0024	0.0024	0.0026	0.0026	0.0003	0.0008	0.0005	0	0.0052	0.0003	0.0027	0.0026	0.0015	0.0018	0.0018	0.0017	0.0019	0.0025	0.0016	0.0016	0.0022	0.0021	0.0003	0	0.0010	0.0017	0	0.0059	0	0.0025	0.0005	0.0012	0.16	0.58626	T	0.189	0.66756	T	0.002	0.15914	B	0.002	0.15521	B	0.000000	0.84330	D	0.073688	0.999626	0.50225	D	0.345	0.11182	N	-2.37	0.88220	D	-0.79	0.41239	N	0.526	0.57177	-0.3532	0.73461	T	0.474	0.79821	T	10	0.007046312	0.00160	T	0.024563	0.47547	T	0.373	0.69188	.	.	0.747280184004	0.74500	0.5955594665905477	0.59485	0.0523107335176	0.05754	0.537878155708	0.44145	T	0.189097	0.54321	T	-0.228197	0.16888	T	-0.101722	0.63264	T	0.0242057004690399	0.01171	T	0.831417	0.50357	T	0.20350711	0.42430	0.2508195	0.50680	0.20350711	0.42430	0.2508195	0.50679	-4.856	0.35633	T	0.05558086056417871	0.01242	0.078	0.09820	B	.;.;.	.;.;.	2.418193	0.31091	18.64	0.96350100827962482	0.29513	0.98770	0.86628	D	AEFDBI	0.902165	0.84973	D	-0.296953468049699	0.29266	1.621434	-0.0959812809506633	0.35557	2.058482	0.999745839683469	0.42466	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.64	4.46	0.53567	7.335000	0.78485	2.871000	0.35267	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.910000	0.44547	0.1296:0.0:0.0:0.8704	12.021	0.52638	623	0.65786	POU-specific domain|POU-specific domain;.;POU-specific domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	611.83	34	chr3	87264357	.	T	C	611.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.127;DP=228;ExcessHet=0;FS=2.322;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=-0.035;SOR=1.063	GT:AD:DP:GQ:PL	0/1:28,26:54:99:622,0,718	5	0	1	0
chr3	88467137	88467137	G	C	exonic	CSNKA2IP	.	nonsynonymous SNV	CSNKA2IP:NM_001368165:exon2:c.G1780C:p.D594H,CSNKA2IP:NM_001368166:exon3:c.G1780C:p.D594H,CSNKA2IP:NM_001368167:exon3:c.G1780C:p.D594H,CSNKA2IP:NM_001368168:exon3:c.G1780C:p.D594H	.	498	1020	3	1	0	5	0.00244499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs553847678	0.0003	0.0003	0.0002	0.0003	0.0087	0.0002	0.0002	0.0062	0.0054	0	0	0	4.357e-05	0	0.0030	0.0002	0.0004	0.0087	0.0003	0.0003	0.0002	0.0005	0.0091	0.0003	0.0002	0.0070	0.0062	0	0	0	0	0	0	0	7.355e-05	0	0.0091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03327939	0.01500	T	.	.	.	.	.	.	.	.	.	0.04547636252887201	0.04491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.505949	0.15996	T	0.09049101	0.21175	0.19390145	0.42984	0.09049101	0.21175	0.19390145	0.42983	-3.649	0.18568	T	.	.	0.675	0.71933	P	.	.	4.143791	0.62103	24.4	0.71298972143786876	0.09582	0.78093	0.38479	D	AEFI	.	.	.	.	.	.	.	.	.	2.08141837707866E-5	0.02871	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.700406	0.42877	4.71	3.75	0.42236	1.958000	0.40027	7.218000	0.57839	0.589000	0.31548	0.978000	0.35038	1.000000	0.68203	0.989000	0.64315	0.1261:0.0:0.8739:0.0	6.989	0.23925	807	0.43470	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	35.83	3	chr3	88467137	.	G	C	35.83	.	AC=2;AF=0.2;AN=10;DP=15;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;QD=17.91;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	4	1	0	1
chr3	98469641	98469641	A	G	exonic	OR5K1	.	nonsynonymous SNV	OR5K1:NM_001004736:exon1:c.A65G:p.E22G	.	426	1078	17	1	0	19	0.00873563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.00246543017696	0.0027	0.000798722	0.0021	0.0005	0.0018	0	0.0002	0.0032	0.0011	0.0010	0.0019469	301	154602	rs190259915	0.0023	0.0023	0.0023	0.0023	0.0073	0.0022	0.0022	0.0055	0.0049	0.0004	0.0018	0.0205	2.519e-05	0.0003	0.0073	0.0021	0.0039	0.0010	0.0022	0.0022	0.0023	0.0020	0.0045	0.0020	0.0019	0.0036	0.0033	0.0004	0	0.0045	0.0216	0	0.0003	0.0034	0.0024	0.0009	0.0006	0.222	0.18823	T	0.134	0.34241	T	0.003	0.11197	B	0.005	0.11217	B	0.016489	0.27965	N	0.165696	0.999866	0.19989	N	1.56	0.39490	L	7.4	0.00411	T	-3.21	0.64826	D	0.114	0.10198	-0.9330	0.43695	T	0.001	0.00287	T	10	0.0047115386	0.00099	T	0.002465	0.04868	T	0.122	0.33800	.	.	0.562540394707	0.55916	0.16676417018101172	0.16596	0.0219589980584	0.02200	0.211319386959	0.00868	T	0.030826	0.21757	T	-0.613179	0.00121	T	-0.658492	0.08369	T	0.0189501159278525	0.00605	T	0.0263974	0.00160	T	0.11977177	0.28196	0.19219825	0.42721	0.11977177	0.28195	0.19219825	0.42720	-5.69	0.43605	T	.	.	0.110	0.21125	B	.;.	.;.	1.986168	0.25231	16.69	0.98704123096557006	0.44953	0.96821	0.71120	D	AEFGI	0.380193	0.46292	N	-0.318731664849088	0.28436	1.568469	-0.239865086665649	0.30123	1.693331	0.00259263629106932	0.09558	0.487112	0.14033	0	0.573888	0.26702	0	0.446627	0.06593	0	0.542086	0.14980	0	.	.	5.05	3.85	0.43556	3.307000	0.51597	.	.	0.667000	0.69007	0.108000	0.22953	0.018000	0.20648	0.610000	0.31640	0.9107:0.0:0.0893:0.0	9.207	0.36455	739	0.53257	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2510.83	40	chr3	98469641	.	A	G	2510.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.65;DP=365;ExcessHet=0;FS=1.869;MLEAC=1;MLEAF=0.083;MQ=53.62;MQRankSum=-0.679;QD=14.19;ReadPosRankSum=-0.551;SOR=0.556	GT:AD:DP:GQ:PL	0/1:83,94:177:99:2521,0,2138	5	0	1	0
chr3	100775333	100775333	T	C	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.A2182G:p.I728V,ABI3BP:NM_001349332:exon28:c.A2257G:p.I753V,ABI3BP:NM_001349331:exon35:c.A2644G:p.I882V,ABI3BP:NM_001365642:exon40:c.A3010G:p.I1004V,ABI3BP:NM_001377332:exon49:c.A3589G:p.I1197V,ABI3BP:NM_001349330:exon54:c.A3913G:p.I1305V,ABI3BP:NM_001349329:exon57:c.A4123G:p.I1375V,ABI3BP:NM_001375549:exon59:c.A4288G:p.I1430V,ABI3BP:NM_001375550:exon59:c.A4294G:p.I1432V,ABI3BP:NM_001375547:exon60:c.A4336G:p.I1446V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0042577872272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.40832	T	0.851	0.17064	T	0.11	0.26188	B	0.064	0.27215	B	0.129979	0.18676	N	0.542434	0.998149	0.23853	N	2.245	0.63543	M	2.23	0.22881	T	-0.36	0.13035	N	0.238	0.26837	-0.9907	0.32424	T	0.069	0.28113	T	10	0.1329661	0.25307	T	0.004258	0.10310	T	0.028	0.06331	0.178	0.08503	0.536287059136	0.53279	0.1284411164199673	0.12769	0.081923470924	0.09225	0.37267062068	0.21215	T	0.013394	0.13935	T	-0.217609	0.18322	T	-0.550357	0.17292	T	0.24375493824482	0.22591	T	0.640436	0.25296	T	0.023745567	0.01140	0.03538561	0.02781	0.023745567	0.01140	0.03538561	0.02780	.	.	.	.	.	0.112	0.22024	B	.;.;.	.;.;.	1.023665	0.14032	10.60	0.62105742636814754	0.06878	0.33788	0.24913	N	AEFDBIJ	0.088700	0.17982	N	-0.138409453698759	0.35730	2.055995	-0.25515300555331	0.29594	1.659267	0.971890519317384	0.29325	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.68	-1.84	0.07387	-0.061000	0.11650	0.266000	0.16602	-0.194000	0.09177	0.988000	0.36536	0.994000	0.32194	0.924000	0.46004	0.0:0.5259:0.0:0.4741	9.015	0.35326	722	0.55239	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3	320.64	33	chr3	100775333	.	T	C	320.64	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.783;DP=162;ExcessHet=1.7609;FS=130.533;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=3.86;ReadPosRankSum=2.06;SOR=7.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:13,10:23:99:.:.:103,0,185:.	2	0	3	1
chr3	102453054	102453054	G	C	exonic	ZPLD1	.	nonsynonymous SNV	ZPLD1:NM_175056:exon3:c.G290C:p.G97A,ZPLD1:NM_001329788:exon4:c.G242C:p.G81A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.702	0.0673347170306	7.7e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs147615734	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	1.316e-05	1.314e-05	0	2.694e-05	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.073	0.38407	T	0.214	0.27056	T	0.999	0.90584	D	0.974	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.27	0.64531	M	-1.32	0.79761	T	-4.19	0.75615	D	0.907	0.91621	0.019	0.82635	D	0.637	0.87301	D	10	0.88449454	0.87772	D	0.067335	0.70135	D	0.702	0.89284	.	.	0.883252605639	0.88210	0.8517594410700666	0.85137	0.414482418027	0.42127	0.81248986721	0.83874	D	0.472292	0.80464	T	0.306976	0.83513	D	0.203174	0.83299	D	0.980332136154175	0.73304	D	0.953005	0.82069	D	0.5278298	0.68707	0.6017085	0.76858	0.5278298	0.68708	0.6017085	0.76859	-7.42	0.57045	T	.	.	0.656	0.76878	P	.;.;.	.;.;.	5.265171	0.88406	29.6	0.99845612902318881	0.92576	0.99372	0.95168	D	AEFI	0.921796	0.89581	D	0.821201188065247	0.87412	9.209337	0.845790537433322	0.92766	11.62011	0.999999958114019	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.99	5.99	0.97299	9.482000	0.96887	11.839000	0.97761	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.478	0.99191	865	0.32612	Zona pellucida domain|Zona pellucida domain|Zona pellucida domain;.;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	967.83	33	chr3	102453054	.	G	C	967.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.118;DP=270;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=0.459;SOR=0.7	GT:AD:DP:GQ:PL	0/1:51,43:94:99:978,0,1258	5	0	1	0
chr3	124562843	124562843	C	T	exonic	KALRN	.	nonsynonymous SNV	KALRN:NM_001024660:exon34:c.C4930T:p.L1644F,KALRN:NM_001322988:exon34:c.C4930T:p.L1644F	.	400	1111	11	0	0	11	0.00492611	0.1881	0.314	.	3214389	KALRN-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.214	.	0.0022	0.00119808	0.0055	0.0002	0.0020	0	0.0305	0.0063	0.0083	0.0031	0.0030271	468	154602	rs186739814	0.0031	0.0026	0.0030	0.0031	0.0047	0.0030	0.0029	0.0032	0.0027	0.0003	0.0010	0.0004	0	0.0172	0.0047	0.0029	0.0026	0.0028	0.0032	0.0031	0.0026	0.0037	0.0031	0.0029	0.0028	0.0028	0.0027	0.0003	0.0110	0.0009	0.0003	0	0.0202	0	0.0031	0.0033	0.0017	0.125	0.27310	T	0.23	0.25135	T	.	.	.	.	.	.	0.000037	0.55875	D	0.000000	0.983825	0.43340	D	.	.	.	0.18	0.60361	T	-2.31	0.51319	N	0.694	0.69913	-0.7264	0.59145	T	0.207	0.56581	T	10	0.0081778765	0.00185	T	.	.	.	0.214	0.50650	.	.	0.844262093438	0.84276	.	.	.	.	0.822305738926	0.85382	D	0.023719	0.18055	T	-0.280489	0.10615	T	-0.174726	0.57009	T	0.0307630209401881	0.02108	T	0.987701	0.95793	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.646	0.70779	P	.	.	4.693780	0.75243	26.3	0.99636955558844742	0.76387	0.93450	0.58249	D	AEFDBI	0.718484	0.66967	D	0.524561361663672	0.68547	5.232198	0.477969147557332	0.66531	4.964465	0.999990081749376	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.31	4.31	0.50718	6.024000	0.70506	7.578000	0.60885	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.708000	0.34389	0.0:0.8313:0.0:0.1687	6.149	0.19517	669	0.61081	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001008	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.003788	0.08333	412.83	33	chr3	124562843	.	C	T	412.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.037;DP=209;ExcessHet=0;FS=7.949;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=0.456;SOR=2.133	GT:AD:DP:GQ:PL	0/1:19,14:33:99:423,0,549	5	0	1	0
chr3	128055734	128055734	T	C	exonic	SEC61A1	.	nonsynonymous SNV	SEC61A1:NM_013336:exon4:c.T203C:p.I68T	Hyperuricemic nephropathy, familial juvenile, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.573	0.091247723289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.258e-05	0.0002	2.676e-05	1.839e-05	9.196e-05	1.634e-05	1.399e-05	2.437e-05	1.642e-05	9.196e-05	0	0	0	0	0	2.708e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.813	0.45457	P	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	.	.	.	-4.32	0.78135	D	0.916	0.91852	0.283	0.87277	D	0.586	0.85162	D	9	0.86147714	0.85369	D	0.091248	0.75671	D	0.573	0.82686	0.675	0.81299	0.76620622527	0.76407	0.9592012447472799	0.95906	2.62425591286	0.98291	0.937776684761	0.99368	D	0.171646	0.89009	T	0.407234	0.90327	D	0.347187	0.90207	D	0.99201911687851	0.82399	D	0.982235	0.93989	D	0.61355335	0.73418	0.63325304	0.78597	0.61355335	0.73420	0.63325304	0.78598	-14.305	0.94006	D	0.9309146123572548	0.97183	0.995	0.95337	P	.;.;.	.;.;.	4.978580	0.82446	27.8	0.99818939875784696	0.90238	0.96469	0.69293	D	AEFBCI	0.955470	0.97334	D	0.872628912596572	0.90357	10.36711	0.841034471038791	0.92481	11.45152	0.999999999999953	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.638787	0.57140	0	.	.	5.96	5.96	0.96695	8.017000	0.88732	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	16.434	0.83709	652	0.62785	Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	341.96	59	chr3	128055734	.	T	C	341.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.037;DP=303;ExcessHet=3.1439;FS=106.99;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.73;ReadPosRankSum=0.655;SOR=7.35	GT:AD:DP:GQ:PL	0/1:33,12:45:46:46,0,660	2	0	4	0
chr3	138062900	138062900	G	-	exonic	DZIP1L	.	frameshift deletion	DZIP1L:NM_173543:exon16:c.2220delC:p.K741Sfs*36	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	819.79	40	chr3	138062899	.	TG	T	819.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.802;DP=233;ExcessHet=0;FS=3.844;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=-0.876;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,22:53:99:0|1:138062899_TG_T:830,0,1229:138062899	5	0	1	0
chr3	138062901	138062901	G	C	exonic	DZIP1L	.	nonsynonymous SNV	DZIP1L:NM_173543:exon16:c.C2219G:p.P740R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00683887302911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.04	0.50809	D	0.994	0.66517	D	0.865	0.61524	P	0.004857	0.33331	N	0.200964	1	0.08975	N	2.52	0.73523	M	2.47	0.14783	T	-2.48	0.54059	N	0.142	0.14196	-1.0991	0.04202	T	0.066	0.27364	T	10	0.15996444	0.30043	T	0.006839	0.18093	T	0.023	0.04649	0.256	0.19689	0.134241683229	0.13084	0.14986388847246812	0.14908	0.341253318331	0.36058	0.402876734734	0.25470	T	0.021379	0.16659	T	-0.228976	0.16784	T	-0.566685	0.15754	T	0.354426143853192	0.27191	T	0.721228	0.33447	T	0.049928658	0.08942	0.059943	0.11335	0.049928658	0.08941	0.059943	0.11335	-5.54	0.42241	T	.	.	0.108	0.20391	B	.	.	3.430651	0.47680	22.5	0.99312336025218773	0.59055	0.08870	0.14733	N	AEFDBIJ	0.049158	0.08465	N	-0.0943763979495373	0.37639	2.192695	-0.280253642283378	0.28748	1.605356	0.999960956938475	0.48965	0.651	0.46895	0	0.547309	0.14657	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	4.9	1.79	0.23992	1.398000	0.34163	3.142000	0.36487	0.676000	0.76740	0.408000	0.26234	0.965000	0.29475	0.220000	0.22462	0.109:0.3683:0.5227:0.0	6.000	0.18746	587	0.69154	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	819.83	40	chr3	138062901	.	G	C	819.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.244;DP=233;ExcessHet=0;FS=3.844;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=-0.921;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,22:53:99:0|1:138062899_TG_T:830,0,1229:138062899	5	0	1	0
chr3	147396245	147396245	C	G	exonic	ZIC4	.	nonsynonymous SNV	ZIC4:NM_001168378:exon3:c.G445C:p.G149R,ZIC4:NM_001168379:exon3:c.G409C:p.G137R,ZIC4:NM_032153:exon3:c.G295C:p.G99R	.	134	1355	33	0	0	33	0.0120306	.	.	.	2113997	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.269	.	0.0059	0.00519169	0.0071	0.0017	0.0040	0.0001	0.0157	0.0087	0.0084	0.0065	0.0067787	1048	154602	rs34676558	0.0081	0.0081	0.0080	0.0082	0.0113	0.0080	0.0079	0.0091	0.0083	0.0014	0.0042	0.0109	0	0.0149	0.0113	0.0085	0.0077	0.0068	0.0067	0.0067	0.0066	0.0069	0.0093	0.0064	0.0063	0.0087	0.0085	0.0020	0	0.0048	0.0112	0	0.0142	0	0.0093	0.0061	0.0070	0.007	0.78490	D	0.184	0.37872	T	0.994	0.66517	D	0.923	0.65830	D	0.000258	0.46924	D	0.000000	.	.	.	2.28	0.64929	M	0.97	0.42502	T	-3.96	0.74661	D	0.707	0.76203	-0.8022	0.55015	T	0.147	0.47129	T	10	0.0103960335	0.00232	T	.	.	.	0.269	0.58381	0.628	0.76366	0.799349794875	0.79747	0.6008591114934073	0.60016	1.56576822731	0.88110	0.708737492561	0.68410	T	0.577982	0.86135	D	-0.266311	0.12170	T	-0.145919	0.59604	T	0.0226727302625135	0.00985	T	0.967253	0.88140	D	0.3260748	0.55147	0.40053952	0.64588	0.3260748	0.55147	0.40053952	0.64588	-12.54	0.87381	D	.	.	0.627	0.70621	P	.;.;.;.;.;.	.;.;.;.;.;.	3.880911	0.56402	23.7	0.9988786241018941	0.96281	0.96824	0.71137	D	AEFDBHCI	0.809104	0.73270	D	0.604603678742957	0.73464	5.970528	0.573160142656645	0.73021	5.902948	0.999999943667802	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.98	4.98	0.65679	3.034000	0.49441	2.192000	0.31216	0.599000	0.40250	1.000000	0.71638	0.800000	0.26941	0.990000	0.65344	0.1613:0.7572:0.0:0.0816	7.852	0.28624	921	0.19240	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015609	0.025253	0.009511	0.023392	0.000000	0.008621	0.021341	0.003788	0.1667	2674.06	39	chr3	147396245	.	C	G	2674.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.9;DP=350;ExcessHet=0.4139;FS=7.449;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=0.889;SOR=1.209	GT:AD:DP:GQ:PL	0/1:30,57:87:99:1532,0,621	4	0	2	0
chr3	148879827	148879827	G	A	exonic	CPA3	.	nonsynonymous SNV	CPA3:NM_001870:exon6:c.G514A:p.D172N	.	430	1085	7	0	0	7	0.00321543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.357	0.00921743797219	0.0031	0.000399361	0.0022	0.0007	0.0009	0	0.0032	0.0033	0.0011	0.0006	0.0021022	325	154602	rs149768841	0.0040	0.0040	0.0039	0.0040	0.0047	0.0039	0.0039	0.0046	0.0045	0.0007	0.0009	0.0012	0	0.0034	0.0019	0.0047	0.0047	0.0007	0.0031	0.0031	0.0032	0.0029	0.0055	0.0028	0.0027	0.0051	0.0049	0.0007	0	0.0008	0.0020	0	0.0027	0.0034	0.0055	0.0024	0.0010	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.515	0.73286	M	2.71	0.12055	T	-4.86	0.81187	D	0.339	0.38027	-0.9863	0.33518	T	0.114	0.40605	T	10	0.052314013	0.05247	T	0.009217	0.24225	T	0.357	0.67782	.	.	0.494165489436	0.49052	0.7562566560573699	0.75573	0.0323103836565	0.03370	0.593737840652	0.52021	T	0.22284	0.58681	T	-0.426648	0.01553	T	-0.382598	0.35419	T	0.0176568705484154	0.00497	T	0.907809	0.67374	D	0.8091958	0.84500	0.70435435	0.82574	0.8091958	0.84501	0.70435435	0.82575	-8.717	0.65857	D	.	.	0.527	0.65780	A	.	.	4.391107	0.67767	25.1	0.99930392899379206	0.99334	0.95213	0.63857	D	AEFBI	0.809231	0.73279	D	0.777423027204276	0.84677	8.354648	0.716470035813073	0.83628	8.07224	0.999999917063699	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.656636	0.63459	0	.	.	4.77	4.77	0.60425	6.754000	0.74705	7.150000	0.57675	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	0.0:0.0:1.0:0.0	17.070	0.86447	532	0.73501	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase B, carboxypeptidase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.008621	0.003049	0.000000	0.08333	1386.83	38	chr3	148879827	.	G	A	1386.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.515;DP=269;ExcessHet=0;FS=0.896;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.26;ReadPosRankSum=-0.621;SOR=0.927	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,36:72:99:0|1:148879825_C_T:1397,0,1403:148879825	5	0	1	0
chr3	161497039	161497039	G	A	exonic	OTOL1	.	nonsynonymous SNV	OTOL1:NM_001080440:exon1:c.G232A:p.V78I	.	427	1085	10	0	0	10	0.00458716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.0344195182739	0.0007	0.000199681	0.0008	0.0004	8.673e-05	0	0.0006	0.0009	0	0.0015	0.0006986	108	154602	rs199791179	0.0008	0.0008	0.0008	0.0008	0.0036	0.0008	0.0007	0.0024	0.0020	0.0001	8.946e-05	0.0008	0	0.0004	0.0036	0.0008	0.0008	0.0014	0.0006	0.0006	0.0005	0.0007	0.0021	0.0005	0.0005	0.0011	0.0009	9.626e-05	0	0.0001	0.0014	0	0.0007	0	0.0009	0.0005	0.0021	0.176	0.22312	T	0.395	0.15255	T	0.094	0.25382	B	0.016	0.17743	B	0.034833	0.24720	N	0.431541	1	0.08975	N	0	0.06538	N	-2.64	0.90147	D	-0.31	0.12099	N	0.212	0.23632	-0.6446	0.62948	T	0.408	0.75762	T	10	0.00881061	0.00200	T	0.03442	0.55661	D	0.086	0.25016	.	.	0.104622674875	0.10061	0.12364852100604679	0.12290	0.0198927831147	0.01948	0.264644563198	0.05457	T	9.8E-4	0.00525	T	-0.463556	0.00934	T	-0.468722	0.25653	T	0.00843817680004128	0.00102	T	0.465653	0.13651	T	0.032953892	0.03421	0.05621832	0.10006	0.032953892	0.03420	0.05621832	0.10006	-3.584	0.17625	T	.	.	0.071	0.03773	B	.	.	0.482996	0.08524	5.287	0.93888427696494847	0.23909	0.06455	0.12462	N	AEFI	0.045432	0.07429	N	-0.845885784371692	0.12151	0.5905631	-0.806031618336411	0.14350	0.749309	3.93230951477393E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.55	2.79	0.31792	2.460000	0.44689	1.066000	0.23763	0.676000	0.76740	0.181000	0.24076	0.000000	0.08366	0.205000	0.22041	0.1549:0.0:0.7014:0.1437	6.717	0.22498	865	0.32612	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.010101	0.005435	0.011696	0.000000	0.000000	0.000000	0.003788	0.08333	1530.83	34	chr3	161497039	.	G	A	1530.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.291;DP=292;ExcessHet=0;FS=3.332;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=0.203;SOR=0.788	GT:AD:DP:GQ:PL	0/1:56,64:120:99:1541,0,1285	5	0	1	0
chr3	183389769	183389769	C	T	exonic	MCF2L2	.	nonsynonymous SNV	MCF2L2:NM_015078:exon2:c.G87A:p.M29I	.	427	1068	24	3	0	30	0.0138504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.0232574772145	0.0013	0.00119808	0.0027	0	0.0022	0	0	0.0030	0.0044	0.0059	0.0023932	370	154602	rs61752076	0.0017	0.0017	0.0015	0.0019	0.0116	0.0017	0.0016	0.0094	0.0086	0.0005	0.0023	0.0206	0	1.872e-05	0.0116	0.0009	0.0036	0.0063	0.0018	0.0018	0.0017	0.0018	0.0069	0.0016	0.0015	0.0050	0.0044	0.0002	0	0.0024	0.0213	0	0	0.0170	0.0015	0.0047	0.0069	0.006	0.63226	D	0.013	0.92824	D	0.164	0.60381	B	0.036	0.62825	B	0.000000	0.84330	D	0.000000	0.999583	0.47691	D	2.61	0.76335	M	4.56	0.44461	T	-2.34	0.59389	N	0.57	0.59308	-0.4387	0.70774	T	0.269	0.64066	T	10	0.0058627725	0.00225	T	0.023257	0.46211	T	0.211	0.50185	0.354	0.35408	0.699295303354	0.69669	0.7719261515607554	0.77142	0.364487451993	0.38064	0.625366687775	0.56489	T	0.084621	0.37319	T	-0.390272	0.02679	T	-0.330764	0.41383	T	0.0727788167714638	0.09036	T	0.961204	0.90223	D	0.47927946	0.65856	0.42337087	0.66210	0.47927946	0.65857	0.42337087	0.66210	-6.157	0.51463	T	.	.	0.550	0.70227	A	.;.;.;.;.;.	.;.;.;.;.;.	3.971847	0.58326	24.0	0.99787139048263984	0.87308	0.94675	0.61946	D	AEFDBI	0.691986	0.65180	D	0.570421412318507	0.71333	5.63512	0.571583180467694	0.72910	5.885064	0.999999990934825	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.79	4.79	0.60909	6.673000	0.74320	3.464000	0.38534	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	16.956	0.86131	506	0.75555	CRAL-TRIO lipid 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	0.009063	0.000000	0.009511	0.005848	0.000000	0.008621	0.009146	0.011364	0.1667	2455.04	33	chr3	183389769	.	C	T	2455.04	.	AC=2;AF=0.167;AN=12;DP=261;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=29.23;SOR=0.897	GT:AD:DP:GQ:PL	1/1:0,84:84:99:2475,252,0	5	1	0	0
chr3	184038904	184038904	C	A	exonic	HTR3D	.	nonsynonymous SNV	HTR3D:NM_182537:exon6:c.C769A:p.L257M,HTR3D:NM_001145143:exon8:c.C1144A:p.L382M,HTR3D:NM_001163646:exon8:c.C1294A:p.L432M	.	414	1087	21	0	0	21	0.0095672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.469	.	0.0090	0.00938498	0.0049	0.0255	0.0084	0.0002	0.0003	0.0023	0.0110	0.0035	0.0045795	708	154602	rs115389821	0.0026	0.0026	0.0026	0.0026	0.0273	0.0026	0.0025	0.0258	0.0252	0.0273	0.0079	0.0064	0.0004	0.0003	0.0135	0.0015	0.0062	0.0036	0.0089	0.0089	0.0088	0.0090	0.0225	0.0085	0.0083	0.0213	0.0208	0.0225	0	0.0114	0.0046	0	0.0003	0.0442	0.0022	0.0184	0.0048	0.036	0.43393	D	0.036	0.52060	D	0.372	0.68779	B	0.377	0.60615	B	0.000124	0.49741	D	0.000000	0.998285	0.22833	N	2.165	0.60562	M	-1.85	0.84267	D	-1.59	0.39503	N	0.459	0.51672	-0.3990	0.72059	T	0.438	0.77708	T	10	0.010040611	0.00225	T	.	.	.	0.469	0.76355	.	.	0.535584383668	0.53208	0.09576115716129735	0.09508	0.56031135281	0.52562	.	.	.	0.00821	0.07549	T	-0.305625	0.08140	T	-0.192861	0.55322	T	0.0194617689242302	0.00650	T	0.511449	0.16356	T	0.15048273	0.34256	0.15137953	0.35662	0.15048273	0.34256	0.15137953	0.35661	-6.913	0.58778	T	.	.	0.170	0.40164	B	.;.;.;.	.;.;.;.	3.198392	0.43488	21.7	0.9938717465868433	0.62157	0.97399	0.74502	D	AEFDGBI	0.397479	0.47354	N	0.188782622342907	0.50661	3.253971	0.215602674663568	0.50713	3.260472	0.938049403297843	0.27325	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.11	3.23	0.36150	4.016000	0.56871	1.049000	0.23621	0.596000	0.33519	0.998000	0.41325	0.063000	0.22074	0.583000	0.30967	0.0:0.878:0.0:0.122	7.056	0.24278	237	0.90758	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025680	0.070707	0.042120	0.014620	0.050000	0.008621	0.000000	0.000000	0.1667	6440.04	55	chr3	184038904	.	C	A	6440.04	.	AC=2;AF=0.167;AN=12;DP=559;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=59.72;QD=29.95;SOR=0.906	GT:AD:DP:GQ:PL	1/1:0,215:215:99:6460,644,0	5	1	0	0
chr3	195725265	195725265	C	T	exonic	MUC20	.	nonsynonymous SNV	MUC20:NM_001282506:exon2:c.C662T:p.P221L,MUC20:NM_020790:exon3:c.C548T:p.P183L	.	1227	268	12	15	0	42	0.0726644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0279939078184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1178367301	0.0039	0.0022	0.0035	0.0042	0.0229	0.0036	0.0034	0.0194	0.0181	0	0.0229	0.0016	0.0004	0.0035	0	0.0017	0.0016	0.0098	0.0909	0.0077	0	0.1667	0.2500	0.0162	0.0068	.	.	.	.	0.2500	.	0	0.5000	.	0	.	.	0.935	0.05501	T	0.009	0.67890	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.97	0.13795	T	-0.71	0.20145	N	0.071	0.04426	-0.9482	0.41279	T	0.016	0.06473	T	5	0.0043722987	0.00089	T	0.027994	0.50737	D	0.012	0.01476	0.268	0.21576	.	.	0.08169079549289465	0.08104	.	.	.	.	.	0.002482	0.09657	T	-0.314255	0.07379	T	-0.689182	0.06436	T	0.0349274069218366	0.02795	T	.	.	.	0.046044763	0.07641	0.13236813	0.31765	0.046044763	0.07640	0.13236813	0.31764	-7.122	0.54919	T	.	.	0.357	0.69288	A	.;.;.	.;.;.	0.983081	0.13607	10.14	0.97336882581047512	0.33452	0.00384	0.01939	N	AEFI	0.051030	0.08975	N	-0.961609506576599	0.09433	0.4464343	-1.14477772820503	0.06862	0.3317746	1.15960121852374E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	1.090000	0.30514	0.659000	0.20486	0.196000	0.17891	0.011000	0.18532	0.001000	0.17328	0.019000	0.11356	.	.	.	851	0.35303	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	158.43	4	chr3	195725265	.	C	T	158.43	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-0.674;DP=29;ExcessHet=0.6695;FS=0;MLEAC=2;MLEAF=0.25;MQ=28.16;MQRankSum=0.674;QD=11.32;ReadPosRankSum=-0.319;SOR=0.693	GT:AD:DP:GQ:PL	0/1:6,4:10:84:84,0,162	2	0	2	2
chr3	195783346	195783346	A	0	exonic	MUC4	.	.	.	.	1082	70	139	167	64	537	0.771615	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	100.2	45	chr3	195783346	.	A	*	100.2	.	AC=2;AF=0.5;AN=4;BaseQRankSum=1.65;DP=657;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.75;MQ=36.63;MQRankSum=-1.282;QD=0.73;ReadPosRankSum=1.65;SOR=1.036	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,131:132:99:.:.:4138,302,0:.	1	1	0	4
chr3	195783355	195783358	GTCT	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	103.65	27	chr3	195783355	.	GTCT	*	103.65	.	AC=2;AF=0.2;AN=10;DP=563;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=32.59;QD=0.77;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,131:132:99:.:.:4138,302,0:.	4	1	0	1
chr3	195783391	195783391	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C8189A:p.S2730Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.000404150148124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.339e-06	1.705e-05	4.449e-06	2.227e-06	4.016e-05	8.9e-07	2.5e-07	.	.	0	4.016e-05	5.59e-05	0	2.721e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.31	0.35405	T	-0.97	0.27876	N	0.123	0.11483	-1.0081	0.27510	T	0.048	0.20355	T	6	0.09094933	0.15889	T	4.04E-4	0.00071	T	0.012	0.01476	0.236	0.16608	0.101711395817	0.09552	1.2862146188729878E-5	0.00001	.	.	0.531352460384	0.43226	T	.	.	.	-0.276882	0.11002	T	-0.635498	0.10000	T	0.106647939296188	0.13073	T	0.854315	0.54093	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.32613	B	.;.	.;.	1.415082	0.18313	13.67	0.28369215759524363	0.01453	0.00436	0.02133	N	AEFBI	0.056814	0.10532	N	-1.01787318366989	0.08233	0.3852902	-1.23581631101255	0.05344	0.2544087	1.82086757490705E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.02	-2.03	0.06959	-1.233000	0.03043	0.258000	0.16510	0.061000	0.17545	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.0:0.0:0.6795:0.3205	5.544	0.16340	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	.	.	.	.	.	.	.	.	0.2	66.09	54	chr3	195783391	.	G	T	66.09	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-1.036;DP=439;ExcessHet=0.5115;FS=0;MLEAC=1;MLEAF=0.1;MQ=48.24;MQRankSum=1.65;QD=13.22;ReadPosRankSum=-0.524;SOR=0.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,0:132:99:.:.:282,0,1034:.	3	0	2	1
chr3	195783496	195783496	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C8084A:p.S2695Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	.	.	0.0888	0.0154	0.125	0.0433	0.1306	0.0761	0.0465	0.1018	0.0001153	3	26028	rs769072565	0.0030	0.0079	0.0029	0.0031	0.0047	0.0029	0.0029	0.0043	0.0041	0.0010	0.0017	0.0052	0.0023	0.0052	0.0046	0.0029	0.0031	0.0047	0.0007	0.0028	0.0013	0	0.0016	0	0	.	.	0	0	0	0	0	0	0	0.0016	0	0	0.001	0.78490	D	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	1.46	0.32722	T	-0.05	0.10480	N	0.043	0.01577	-1.0116	0.26416	T	0.041	0.17530	T	6	0.0036363006	0.00066	T	.	.	.	0.013	0.01715	.	.	.	.	1.467579142754757E-4	0.00012	.	.	0.542433857918	0.44789	T	.	.	.	-0.263888	0.12448	T	-0.616834	0.11435	T	0.0421908303122861	0.04090	T	0.684832	0.29327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.32827	B	.;.	.;.	1.371228	0.17813	13.38	0.30667092946257996	0.01689	0.00838	0.03362	N	AEFBI	0.089729	0.18187	N	-0.82776420852381	0.12603	0.6153997	-1.00259515949732	0.09728	0.4856676	1.73116509190477E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.02	1.02	0.19102	0.001000	0.12940	-0.141000	0.11517	0.061000	0.17545	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.303:0.0:0.697:0.0	3.506	0.07252	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	.	.	.	.	.	.	.	.	0.2	299.33	31	chr3	195783496	.	G	T	299.33	.	AC=2;AF=0.2;AN=10;DP=138;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=47.23;QD=27.17;SOR=4.174	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,7:7:22:1|1:195783395_A_*:317,22,0:195783395	4	1	0	1
chr3	195783505	195783552	GTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTA	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.8028_8075del:p.S2677_T2692del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0356	0.0109	0.0256	0.0169	0.0512	0.0303	0.0224	0.0416	.	.	.	rs773062405	0.0002	0.0024	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	5.456e-05	0.0003	0.0003	0.0003	0.0002	0.0004	0.0002	0.0003	0.0002	0.0007	0.0014	0.0014	0	0.0015	0	0	.	.	0	0	0	0	0	0	0	0.0015	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	156.75	29	chr3	195783504	.	GGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTA	G	156.75	.	AC=1;AF=0.125;AN=8;DP=113;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.125;MQ=47.92;MQRankSum=1.28;QD=31.35;SOR=1.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,4:5:30:0|1:195783395_A_*:165,0,30:195783395	3	0	1	2
chr3	195785443	195785443	T	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A6137C:p.D2046A,MUC4:NM_001322468:exon6:c.A6137C:p.D2046A	.	450	1058	12	1	1	15	0.00657277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.003604254882	.	.	0.0012	0.0017	0	0	0.0023	0.0012	0	0.0009	0.0002393	37	154602	rs202129397	0.0003	0.0008	0.0003	0.0003	0.0008	0.0003	0.0003	0.0007	0.0006	0.0006	0	0.0003	0.0002	0.0024	0.0003	0.0002	0.0004	0.0008	0.0015	0.0030	0.0015	0.0016	0.0023	0.0014	0.0013	0.0017	0.0015	0.0021	0	0.0006	0.0007	0.0018	0.0017	0.0081	0.0014	0.0013	0.0023	0.318	0.13654	T	0.091	0.40426	T	.	.	.	.	.	.	.	.	.	.	1	0.18198	N	.	.	.	1.53	0.30401	T	-0.2	0.10136	N	0.063	0.03502	-1.0198	0.23780	T	0.025	0.10509	T	6	0.007986397	0.00181	T	0.003604	0.08247	T	0.015	0.02232	.	.	0.0138822411134	0.00435	1.8720344249421197E-4	0.00016	.	.	0.493286401033	0.37895	T	.	.	.	-0.334697	0.05763	T	-0.718545	0.04867	T	0.00152941396766075	0.00015	T	0.531747	0.17685	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00229	B	.;.	.;.	0.397842	0.07692	4.366	0.94009402321113822	0.24110	0.00248	0.01370	N	AEFBCI	0.018914	0.00612	N	-2.0308230204244	0.00181	0.007772685	-2.11456447948871	0.00173	0.007623546	1.15454920013229E-5	0.02871	0.554377	0.28877	0	0.550933	0.16991	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-0.621000	0.05655	-5.708000	0.01623	-2.415000	0.00290	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006716	0.000000	0.007282	0.010101	0.000000	0.000000	0.003846	0.004854	0.2	5416.77	790	chr3	195785443	.	T	G	5416.77	.	AC=2;AF=0.2;AN=10;BaseQRankSum=5.43;DP=2592;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.2;MQ=55.98;MQRankSum=-0.043;QD=10.03;ReadPosRankSum=1.58;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:160,144:304:99:.:.:3360,0,4042:.	3	0	2	1
chr3	196722501	196722501	G	A	exonic	PIGX	.	nonsynonymous SNV	PIGX:NM_001166304:exon3:c.G263A:p.G88E,PIGX:NM_017861:exon3:c.G263A:p.G88E	.	434	1081	6	1	0	8	0.00368664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.0119793642883	7.7e-05	0.00119808	0.0008	0	0	0	0	0.0001	0	0.0052	0.0006404	99	154602	rs377629523	0.0004	0.0004	0.0002	0.0006	0.0057	0.0004	0.0004	0.0053	0.0051	0	0	0	0	0	0.0012	4.229e-05	0.0004	0.0057	0.0002	0.0002	6.424e-05	0.0003	0.0043	0.0001	0.0001	0.0029	0.0024	0	0	6.539e-05	0	0	0	0.0034	5.88e-05	0	0.0043	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999994	0.81001	D	2.695	0.78878	M	1.64	0.27822	T	-6.7	0.94223	D	0.848	0.84401	-1.0200	0.23715	T	0.171	0.51245	T	10	0.015411019	0.00324	T	0.011979	0.30135	T	0.463	0.75956	.	.	0.270447802918	0.26645	0.8487119662274744	0.84832	.	.	0.632845759392	0.57548	T	0.189484	0.56958	T	-0.0593033	0.43016	T	0.143681	0.79782	D	0.232739842629215	0.22081	T	0.867413	0.58094	D	0.5501778	0.69966	0.49874976	0.71018	0.5501778	0.69967	0.49874976	0.71019	-9.63	0.72991	D	.	.	0.698	0.75430	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.626738	0.73518	26.0	0.99805012708588636	0.88906	0.95016	0.63133	D	AEFGBI	0.638349	0.61680	D	0.666658311540119	0.77449	6.67711	0.667527380226237	0.79923	7.185924	0.999996266727441	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	6.05	6.05	0.98156	5.569000	0.67091	11.508000	0.92991	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.852000	0.40310	0.0:0.0:1.0:0.0	17.525	0.87695	862	0.33134	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	550.83	34	chr3	196722501	.	G	A	550.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.951;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.65;ReadPosRankSum=-0.411;SOR=0.646	GT:AD:DP:GQ:PL	0/1:46,26:72:99:561,0,1201	5	0	1	0
chr3	197016233	197016233	T	C	exonic	MELTF	.	nonsynonymous SNV	MELTF:NM_005929:exon8:c.A1037G:p.H346R	.	415	1105	2	0	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.00241517078824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs935164557	6.212e-06	8.209e-06	5.492e-06	6.94e-06	8.139e-06	2.92e-06	2.12e-06	3.83e-06	2.77e-06	0	0	0	0	0	0	8.139e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.595	0.05720	T	0.596	0.08052	T	0.0	0.02946	B	0.0	0.01387	B	0.109356	0.02623	N	1.683850	1	0.08975	N	-1.01	0.01154	N	1.46	0.32238	T	-0.47	0.15178	N	0.074	0.04790	-1.0266	0.21560	T	0.021	0.09101	T	10	0.048202068	0.04239	T	0.002415	0.04729	T	0.122	0.33800	0.673	0.81101	0.0401082797425	0.02173	0.28992967215325793	0.28905	0.251334568712	0.27710	0.243180528283	0.03084	T	0.031353	0.22002	T	-0.386273	0.02842	T	-0.792631	0.02093	T	0.0462477562160771	0.04830	T	0.117988	0.00908	T	0.060539495	0.12433	0.045670394	0.06197	0.060539495	0.12433	0.045670394	0.06196	-3.028	0.10486	T	.	.	0.049	0.00102	B	.	.	-1.165791	0.00566	0.014	0.76881465848853059	0.11647	0.05307	0.11155	N	AEFDGBCI	0.124141	0.24006	N	-1.61105853155239	0.01210	0.05262423	-1.62880596867989	0.01489	0.06740844	0.999995664549768	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.645312	0.48771	0	0.586402	0.36253	0	.	.	5.39	-10.8	0.00171	-2.312000	0.01208	-4.629000	0.02061	-0.705000	0.03985	0.000000	0.06391	0.000000	0.08366	0.935000	0.47363	0.0:0.1297:0.4587:0.4115	10.074	0.41524	677	0.60274	Transferrin-like domain|Transferrin-like domain|Transferrin-like domain|Transferrin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1062.83	33	chr3	197016233	.	T	C	1062.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.19;DP=251;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=1.33;SOR=0.735	GT:AD:DP:GQ:PL	0/1:37,38:75:99:1073,0,940	5	0	1	0
chr4	539187	539187	G	A	exonic	PIGG	.	nonsynonymous SNV	PIGG:NM_001289052:exon11:c.G2371A:p.A791T,PIGG:NM_001345988:exon12:c.G1741A:p.A581T,PIGG:NM_001127178:exon13:c.G2770A:p.A924T,PIGG:NM_001289051:exon13:c.G2503A:p.A835T,PIGG:NM_001345986:exon13:c.G2503A:p.A835T,PIGG:NM_001345987:exon13:c.G2479A:p.A827T,PIGG:NM_001345991:exon13:c.G1237A:p.A413T,PIGG:NM_017733:exon13:c.G2746A:p.A916T,PIGG:NM_001345990:exon14:c.G1237A:p.A413T,PIGG:NM_001345994:exon14:c.G1672A:p.A558T	Mental retardation, autosomal recessive 53, Autosomal recessive	438	1081	3	0	0	3	0.00138568	.	.	.	1396550	Intellectual_disability,_autosomal_recessive_53	MONDO:MONDO:0014832,MedGen:C4310794,OMIM:616917,Orphanet:488635	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.236	0.0128602314542	.	.	2.472e-05	0	8.643e-05	0	0	0	0.0011	6.062e-05	1.94e-05	3	154602	rs771098011	3.697e-05	4.036e-05	2.997e-05	4.403e-05	0.0001	2.896e-05	2.594e-05	5.853e-05	3.761e-05	0.0001	4.472e-05	0	0	0	0	3.78e-05	6.629e-05	1.16e-05	2.628e-05	2.627e-05	2.569e-05	2.69e-05	6.543e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.543e-05	0	0	0	0	4.409e-05	0	0	0.016	0.51853	D	0.263	0.22962	T	1.0	0.90584	D	0.921	0.67449	D	0.000000	0.84330	D	0.052785	1	0.81001	D	1.6	0.40776	L	1.89	0.23688	T	-2.33	0.51646	N	0.668	0.67650	-0.9596	0.39255	T	0.166	0.50469	T	10	0.7502786	0.75586	D	0.01286	0.31797	T	0.236	0.53931	0.513	0.61153	0.389904358541	0.38601	0.4975092880807593	0.49671	0.619018765651	0.56272	0.487798929214	0.37134	T	0.022471	0.24224	T	-0.0230395	0.48421	T	-0.174017	0.57075	T	0.83707070350647	0.49090	D	0.920308	0.71149	D	0.2546722	0.48497	0.2553335	0.51214	0.2546722	0.48497	0.2553335	0.51213	-5.669	0.43417	T	0.6552967462771384	0.72800	0.119	0.24901	B	.;.;.;.	.;.;.;.	4.740155	0.76438	26.5	0.99914214941967339	0.98309	0.97619	0.75946	D	AEFBI	0.801403	0.72712	D	0.688091156168018	0.78853	6.955769	0.661239366376219	0.79450	7.085046	0.999992539546888	0.74766	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.91	5.91	0.95240	6.828000	0.75100	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.708000	0.34389	0.0:0.0:1.0:0.0	17.790	0.88460	788	0.46569	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	683.83	33	chr4	539187	.	G	A	683.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.44;DP=218;ExcessHet=0;FS=2.739;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=3.26;SOR=0.368	GT:AD:DP:GQ:PL	0/1:23,26:49:99:694,0,540	5	0	1	0
chr4	1081428	1081428	G	C	exonic	RNF212	.	nonsynonymous SNV	RNF212:NM_001131034:exon7:c.C455G:p.A152G,RNF212:NM_001366918:exon7:c.C455G:p.A152G,RNF212:NM_001366919:exon7:c.C455G:p.A152G,RNF212:NM_194439:exon7:c.C455G:p.A152G	Recombination rate QTL 1	28	1449	43	2	0	47	0.0159593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0008	0.00379393	0.0033	9.614e-05	0.0006	0	0	0.0011	0.0044	0.0187	0.0028978	448	154602	rs149485506	0.0018	0.0018	0.0012	0.0023	0.0182	0.0017	0.0017	0.0175	0.0172	0.0001	0.0010	0.0028	2.519e-05	0	0.0080	0.0006	0.0021	0.0182	0.0011	0.0011	0.0009	0.0014	0.0135	0.0010	0.0010	0.0109	0.0099	7.218e-05	0	0.0017	0.0032	0	0	0.0034	0.0009	0.0024	0.0135	0.108	0.38633	T	0.419	0.14158	T	0.13	0.27095	B	0.034	0.25278	B	.	.	.	.	1	0.08975	N	0.46	0.12951	N	0.79	0.49068	T	-1.15	0.29525	N	0.098	0.07949	-1.0234	0.22606	T	0.076	0.30397	T	9	0.003075391	0.00051	T	.	.	.	0.023	0.04649	.	.	0.43912465853	0.43530	0.032708534155181324	0.03218	0.140165736158	0.15799	0.294128298759	0.09529	T	0.010434	0.09426	T	-0.669486	0.00055	T	-0.720167	0.04788	T	0.00264690105387411	0.00028	T	0.155984	0.01369	T	0.040004596	0.05631	0.03641426	0.03083	0.040004596	0.05631	0.03641426	0.03083	-3.383	0.14829	T	.	.	0.101	0.22208	B	.;.	.;.	0.524532	0.08933	5.714	0.48703724421198052	0.04086	0.12890	0.17541	N	ALL	0.067024	0.13154	N	-1.10675219334992	0.06522	0.3004596	-1.15003070414155	0.06767	0.3268699	0.99999999999825	0.74766	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.586402	0.36253	0	.	.	4.07	1.28	0.20656	0.240000	0.17822	3.753000	0.39691	-0.126000	0.13398	0.000000	0.06391	0.984000	0.30665	0.000000	0.00833	0.2406:0.0:0.545:0.2144	3.029	0.05732	883	0.28872	.;.	.	.	.	.	.	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	0.002530	0.000000	0.004087	0.005848	0.000000	0.008621	0.000000	0.000000	0.3333	1894.94	34	chr4	1081428	.	G	C	1894.94	.	AC=4;AF=0.333;AN=12;BaseQRankSum=2.08;DP=187;ExcessHet=0.1336;FS=4.375;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=18.58;ReadPosRankSum=0.325;SOR=1.22	GT:AD:DP:GQ:PL	0/1:22,16:38:99:407,0,566	3	1	2	0
chr4	1655300	1655300	G	A	exonic	FAM53A	.	nonsynonymous SNV	FAM53A:NM_001013622:exon4:c.C560T:p.P187L,FAM53A:NM_001174070:exon4:c.C560T:p.P187L,FAM53A:NM_001297435:exon4:c.C560T:p.P187L	.	424	1092	6	0	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.116265846183	0.0003	0.000399361	0.0019	0	0	0	0	0.0022	0	0.0056	0.0004204	65	154602	rs367984289	0.0008	0.0008	0.0008	0.0008	0.0047	0.0008	0.0008	0.0032	0.0027	0.0001	0.0005	0.0041	6.443e-05	8.376e-05	0.0047	0.0008	0.0010	0.0008	0.0006	0.0006	0.0007	0.0005	0.0010	0.0005	0.0004	0.0006	0.0005	2.405e-05	0	0.0004	0.0046	0	9.411e-05	0.0137	0.0007	0.0014	0.0010	0.004	0.65419	D	0.006	0.74150	D	0.999	0.90584	D	0.944	0.69447	D	0.000030	0.55875	U	0.000000	0.999994	0.58761	D	2.125	0.59049	M	0.85	0.47130	T	-5.16	0.83422	D	0.219	0.24510	-0.4783	0.69429	T	0.333	0.70026	T	10	0.011476725	0.00251	T	0.116266	0.79570	D	0.170	0.43303	.	.	0.498128463463	0.49448	0.3031369617787417	0.30226	0.314474479779	0.33730	0.673882126808	0.63391	T	0.053537	0.29470	T	-0.37577	0.03312	T	-0.319808	0.42595	T	0.0904944386538814	0.11276	T	0.833117	0.50161	T	0.27395347	0.50462	0.31220442	0.57224	0.27395347	0.50462	0.31220442	0.57223	-4.234	0.27241	T	.	.	0.143	0.31381	B	.;.;.;.	.;.;.;.	2.961397	0.39439	21.0	0.99809351960839021	0.89353	0.85024	0.44125	D	AEFDBI	0.246578	0.36731	N	-0.0559929859966548	0.39336	2.317971	-0.118463950554444	0.34645	1.995265	0.950572074554561	0.27902	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.33	3.48	0.38946	1.206000	0.31926	1.647000	0.27824	0.505000	0.23025	0.810000	0.29852	0.958000	0.29226	0.241000	0.23027	0.084:0.0:0.916:0.0	12.261	0.53966	906	0.23090	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003099	0.000000	0.005525	0.000000	0.000000	0.000000	0.000000	0.007752	0.08333	834.83	83	chr4	1655300	.	G	A	834.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.528;DP=306;ExcessHet=0;FS=3.724;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=-1.221;SOR=0.667	GT:AD:DP:GQ:PL	0/1:24,33:57:99:845,0,533	5	0	1	0
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P,KIAA0232:NM_014743:exon7:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00517274981781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049661710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.024	0.56640	D	0.01	0.15535	B	0.01	0.14941	B	0.002610	0.36243	N	0.335799	0.997385	0.43845	D	1.845	0.48678	L	.	.	.	-1.21	0.30762	N	0.255	0.28849	-0.8699	0.50537	T	0.178	0.52350	T	9	0.10915744	0.20352	T	0.005173	0.13156	T	0.057	0.16321	0.471	0.54537	0.0675242888579	0.06100	0.46100661359438516	0.46018	0.236252140533	0.26164	0.507156848907	0.39825	T	0.032907	0.22691	T	-0.0647136	0.42169	T	-0.330733	0.41388	T	0.740678250789642	0.42773	D	0.785921	0.42389	T	0.33447877	0.55835	0.22762217	0.47778	0.33447877	0.55835	0.22762217	0.47777	-4.395	0.29489	T	.	.	0.096	0.18950	B	.;.	.;.	2.849310	0.37614	20.5	0.99790826753695638	0.87661	0.97746	0.76833	D	AEFBI	0.619401	0.60485	D	-0.157216252661344	0.34928	1.999906	-0.0453646344165534	0.37692	2.210343	0.99990703318278	0.45458	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.73	1.7	0.23359	2.683000	0.46609	0.685000	0.20714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0737:0.2877:0.6386	6.857	0.23230	682	0.59757	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1003.86	111	chr4	6862306	.	T	C	1003.86	.	AC=5;AF=0.5;AN=10;BaseQRankSum=-3.38;DP=673;ExcessHet=6.1542;FS=211.761;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.8;ReadPosRankSum=0.542;SOR=10.035	GT:AD:DP:GQ:PL	0/1:64,19:83:99:175,0,1490	0	0	5	1
chr4	8612035	8612035	G	T	exonic	CPZ	.	nonsynonymous SNV	CPZ:NM_003652:exon7:c.G1203T:p.K401N,CPZ:NM_001014447:exon8:c.G1236T:p.K412N,CPZ:NM_001014448:exon8:c.G825T:p.K275N	.	429	1031	57	5	0	67	0.0314702	.	.	.	3210197	CPZ-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.167	.	0.0018	0.00938498	0.0060	0.0002	0.0016	0	0.0002	0.0025	0.0113	0.0326	0.0054333	840	154602	rs147588134	0.0037	0.0037	0.0027	0.0047	0.0326	0.0036	0.0036	0.0316	0.0312	0.0003	0.0022	0.0050	7.557e-05	0.0003	0.0170	0.0017	0.0049	0.0326	0.0027	0.0027	0.0024	0.0031	0.0328	0.0025	0.0024	0.0286	0.0270	0.0004	0.0011	0.0035	0.0049	0.0002	0.0002	0.0272	0.0021	0.0062	0.0328	0.002	0.72154	D	0.007	0.70582	D	0.988	0.64738	D	0.932	0.66722	D	0.000094	0.51296	U	0.169417	0.874553	0.35628	D	3.36	0.91202	M	2.71	0.12055	T	-3.04	0.64826	D	0.739	0.73916	-1.0183	0.24269	T	0.061	0.25563	T	10	0.006847203	0.00156	T	.	.	.	0.167	0.42761	0.538	0.64874	0.221019684889	0.21715	0.8342579297678895	0.83384	0.0121608488562	0.01158	0.535313785076	0.43783	T	0.163735	0.50891	T	-0.449663	0.01134	T	-0.394311	0.34046	T	0.0589441289532621	0.07000	T	0.791621	0.43272	T	0.79185885	0.83389	0.6615037	0.80165	0.7905499	0.83309	0.6615037	0.80165	-9.596	0.71455	D	0.5773041222848564	0.64423	0.643	0.71505	P	.;.;.	.;.;.	3.735368	0.53455	23.4	0.99758725900344469	0.84851	0.88154	0.47958	D	AEFBCI	0.492857	0.52932	N	0.224873122376152	0.52407	3.415049	0.122245908937183	0.45689	2.827621	0.461819498697238	0.20630	0.650006	0.45971	0	0.573888	0.26702	0	0.606735	0.37207	0	0.604944	0.38103	0	.	.	4.1	2.36	0.28258	1.955000	0.39997	6.090000	0.53436	-0.169000	0.11342	0.999000	0.42656	1.000000	0.68203	0.990000	0.65344	0.2816:0.0:0.7184:0.0	8.690	0.33424	982	0.03397	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Metallocarboxypeptidase Z, carboxypeptidase domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.017120	0.005051	0.010870	0.011696	0.000000	0.025862	0.036585	0.034091	0.08333	2552.83	48	chr4	8612035	.	G	T	2552.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.705;DP=484;ExcessHet=0;FS=0.429;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.62;ReadPosRankSum=-1.076;SOR=0.742	GT:AD:DP:GQ:PL	0/1:174,122:296:99:2563,0,4074	5	0	1	0
chr4	13602410	13602410	T	C	exonic	BOD1L1	.	nonsynonymous SNV	BOD1L1:NM_148894:exon10:c.A4490G:p.Q1497R	.	428	1063	29	2	0	33	0.0152849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0069	0.00658946	0.0105	0.0016	0.0023	0	0.0135	0.0117	0.0133	0.0215	0.0099805	1543	154602	rs61995956	0.0095	0.0095	0.0091	0.0099	0.0220	0.0094	0.0093	0.0211	0.0208	0.0011	0.0025	0.0016	7.557e-05	0.0120	0.0108	0.0096	0.0081	0.0220	0.0068	0.0068	0.0064	0.0073	0.0226	0.0065	0.0063	0.0192	0.0179	0.0015	0.0011	0.0032	0.0014	0	0.0143	0.0102	0.0094	0.0076	0.0226	0.004	0.65419	D	0.046	0.49120	D	0.608	0.39540	P	0.156	0.34472	B	0.618964	0.10796	N	0.801023	1	0.08975	N	2.36	0.67893	M	3.14	0.07920	T	-1.47	0.35991	N	0.043	0.01577	-0.9586	0.39442	T	0.008	0.02720	T	10	0.003915727	0.00075	T	.	.	.	0.028	0.06331	.	.	.	.	0.15328428292832674	0.15250	0.05194464885	0.05714	0.293053716421	0.09369	T	0.022478	0.17323	T	-0.566169	0.00233	T	-0.569782	0.15470	T	0.0101450160726192	0.00137	T	0.474053	0.14146	T	0.19912675	0.41840	0.14007954	0.33402	0.19912675	0.41840	0.14007954	0.33401	-3.313	0.13906	T	.	.	0.097	0.15788	B	.	.	0.400505	0.07718	4.396	0.98039770082843836	0.37782	0.15683	0.19031	N	AEFGBCI	0.034002	0.04137	N	-0.683719391818305	0.16486	0.8403416	-0.753245090606846	0.15643	0.8237233	0.998625092751285	0.37330	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.23	2.66	0.30672	0.428000	0.21114	0.273000	0.16680	0.665000	0.62972	0.004000	0.16614	0.062000	0.22056	0.024000	0.12247	0.0:0.0782:0.3034:0.6184	6.438	0.21037	612	0.66786	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.006793	0.005848	0.000000	0.000000	0.012195	0.018939	0.08333	1886.83	34	chr4	13602410	.	T	C	1886.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.112;DP=409;ExcessHet=0;FS=3.308;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.34;ReadPosRankSum=0.036;SOR=0.997	GT:AD:DP:GQ:PL	0/1:52,71:123:99:1897,0,1359	5	0	1	0
chr4	15962825	15962825	A	C	exonic	FGFBP2	.	nonsynonymous SNV	FGFBP2:NM_031950:exon1:c.T305G:p.L102R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.00444264343976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	0.952	0.54136	P	0.642	0.52168	P	0.007298	0.31484	U	0.205916	0.966517	0.38535	D	0.695	0.17993	N	2.61	0.13095	T	-0.62	0.18248	N	0.262	0.29659	-1.0775	0.07841	T	0.029	0.12629	T	10	0.22810087	0.39706	T	0.004443	0.10875	T	0.075	0.21907	0.492	0.57890	0.394230963961	0.39037	0.3877776643350561	0.38692	0.534368724879	0.50844	0.391091763973	0.23823	T	0.002925	0.02319	T	-0.21792	0.18278	T	-0.550804	0.17248	T	0.517883896827698	0.33288	D	0.340966	0.07383	T	0.29639804	0.52580	0.26942056	0.52822	0.29639804	0.52579	0.26942056	0.52821	-2.04	0.03335	T	.	.	0.096	0.15251	B	.	.	1.064053	0.14459	11.03	0.99289134351600106	0.58184	0.42985	0.26998	N	AEFDBCI	0.072409	0.14449	N	-0.209608910064621	0.32740	1.849764	-0.338202456258111	0.26876	1.487431	0.999860269250834	0.44398	0.553676	0.25195	0	0.588015	0.36545	0	0.467745	0.07146	0	0.542086	0.14980	0	.	.	2.72	2.72	0.31179	2.181000	0.42176	1.194000	0.24787	0.740000	0.86194	0.947000	0.32937	0.004000	0.18990	0.039000	0.14166	0.7626:0.2374:0.0:0.0	6.848	0.23181	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	839.83	49	chr4	15962825	.	A	C	839.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.564;DP=339;ExcessHet=0;FS=0.846;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=-1.588;SOR=0.869	GT:AD:DP:GQ:PL	0/1:46,35:81:99:850,0,1353	5	0	1	0
chr4	20983901	20983901	C	T	exonic	KCNIP4	.	nonsynonymous SNV	KCNIP4:NM_001363504:exon1:c.G25A:p.E9K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.452	0.36118	B	0.107	0.31211	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2516489	0.42508	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013963	0.11978	T	.	.	.	.	.	.	.	.	.	0.90031	0.65351	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	0.54876	B	.	.	3.948648	0.57831	23.9	0.95144898585954685	0.26270	0.95272	0.64079	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999986606045	0.74766	0.11394	0.02926	0	0.063388	0.01293	0	0.125351	0.03401	0	0.166187	0.04126	0	0.977379	0.81017	6.17	6.17	0.99707	6.066000	0.70822	7.645000	0.63394	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	20.879	0.99870	886	0.28090	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3333	38.6	4	chr4	20983901	.	C	T	38.6	.	AC=2;AF=0.333;AN=6;DP=7;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=60;QD=19.3;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	2	1	0	3
chr4	38774857	38774857	G	T	exonic	TLR10	.	stopgain	TLR10:NM_001017388:exon2:c.C734A:p.S245X,TLR10:NM_001195106:exon3:c.C734A:p.S245X,TLR10:NM_001195107:exon3:c.C734A:p.S245X,TLR10:NM_001195108:exon3:c.C692A:p.S231X,TLR10:NM_030956:exon4:c.C734A:p.S245X	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000399361	0.0004	0	0.0004	0	0	0.0004	0.0011	0.0012	0.0003493	54	154602	rs187892716	0.0003	0.0003	0.0003	0.0004	0.0035	0.0003	0.0003	0.0023	0.0019	3.048e-05	0.0006	0.0023	0	0	0.0035	0.0002	0.0008	0.0016	0.0004	0.0004	0.0004	0.0005	0.0018	0.0004	0.0003	0.0012	0.0011	4.813e-05	0	0.0018	0.0032	0	0	0	0.0002	0.0028	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	0.165341	0.17536	N	0.463445	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.768	0.82157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0752676	0.61482	D	0.299962	0.88197	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;Recessive;.;Recessive;Recessive	High;.;High;.;High;High	7.117175	0.96162	35	0.99199074229592954	0.55231	0.30967	0.24218	N	AEFGBCI	0.122026	0.23697	N	0.203936541478802	0.51391	3.320599	-0.101107918503222	0.35345	2.043836	0.9998227151903	0.43622	0.631515	0.41029	0	0.697927	0.68747	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.81	3.96	0.45097	1.864000	0.39107	2.919000	0.35553	0.618000	0.50648	0.015000	0.19116	0.191000	0.23496	0.109000	0.18697	0.1279:0.139:0.733:0.0	8.449	0.32024	725	0.54935	.;.;.;.;.;.	.	.	.	.	.	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	0.003525	0.000000	0.006793	0.000000	0.000000	0.008621	0.003049	0.000000	0.08333	1179.83	33	chr4	38774857	.	G	T	1179.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.28;DP=504;ExcessHet=0;FS=1.505;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=2.17;SOR=0.879	GT:AD:DP:GQ:PL	0/1:73,46:119:99:1190,0,1956	5	0	1	0
chr4	38932352	38932352	G	T	exonic	FAM114A1	.	nonsynonymous SNV	FAM114A1:NM_001350631:exon10:c.G820T:p.D274Y,FAM114A1:NM_001350633:exon10:c.G1060T:p.D354Y,FAM114A1:NM_001350634:exon10:c.G847T:p.D283Y,FAM114A1:NM_001330764:exon11:c.G820T:p.D274Y,FAM114A1:NM_001350632:exon11:c.G1435T:p.D479Y,FAM114A1:NM_001375792:exon11:c.G1441T:p.D481Y,FAM114A1:NM_001375793:exon11:c.G1441T:p.D481Y,FAM114A1:NM_138389:exon12:c.G1441T:p.D481Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.0142470509207	.	.	.	.	.	.	.	.	.	.	.	.	.	rs780185025	2.083e-06	2.052e-06	1.382e-06	2.793e-06	1.807e-06	5.6e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.807e-06	1.683e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.038	0.53072	D	0.005	0.12996	B	0.016	0.17743	B	0.000350	0.45440	N	0.276159	0.999855	0.49910	D	3.065	0.87014	M	1.84	0.24656	T	-4.36	0.76980	D	0.481	0.52297	-1.0806	0.07233	T	0.075	0.30148	T	10	0.32276887	0.49623	T	0.014247	0.34240	T	0.181	0.45247	0.317	0.29419	0.574670332726	0.57135	0.41298846237944803	0.41214	0.093399900812	0.10551	0.543095469475	0.44882	T	0.177412	0.52771	T	-0.0385898	0.46159	T	-0.293208	0.45439	T	0.965999603271484	0.67442	D	0.837416	0.50983	T	0.43408233	0.63019	0.3775716	0.62854	0.43408233	0.63019	0.3775716	0.62854	-9.436	0.70461	D	.	.	0.146	0.32104	B	.;.	.;.	4.118413	0.61538	24.3	0.98979350273405553	0.49700	0.99327	0.94549	D	AEFBI	0.870908	0.79207	D	0.182739378663024	0.50372	3.228	0.292492521919656	0.55099	3.673437	0.996918909997946	0.35113	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.42	4.57	0.55860	5.932000	0.69838	9.840000	0.81918	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.8603:0.1397	15.519	0.75581	838	0.37812	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	376.83	36	chr4	38932352	.	G	T	376.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.795;DP=216;ExcessHet=0;FS=1.219;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.42;ReadPosRankSum=1.41;SOR=0.941	GT:AD:DP:GQ:PL	0/1:24,16:40:99:387,0,583	5	0	1	0
chr4	44447949	44447949	G	A	exonic	KCTD8	.	nonsynonymous SNV	KCTD8:NM_198353:exon1:c.C575T:p.A192V	.	.	.	.	.	.	.	.	.	.	.	2774423	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.153	0.103996634851	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs778853493	2.377e-05	2.736e-05	2.483e-05	2.267e-05	0.0002	1.72e-05	1.472e-05	1.715e-05	1.457e-05	0	6.781e-05	0	6.5e-05	0	0.0002	2.466e-05	1.795e-05	0	3.294e-05	3.283e-05	5.155e-05	1.348e-05	4.83e-05	1.263e-05	8e-06	1.173e-05	6.25e-06	4.83e-05	0	0	0	0	0	0	4.417e-05	0	0	0.254	0.16903	T	0.099	0.38891	T	0.958	0.54977	D	0.211	0.37346	B	0.831144	0.09105	N	0.892858	1	0.08975	N	0.895	0.22405	L	1.03	0.40469	T	-0.8	0.22078	N	0.256	0.28965	-1.0461	0.15505	T	0.041	0.17700	T	10	0.12948436	0.24638	T	0.103997	0.77834	D	0.153	0.40148	0.201	0.11522	0.246773566709	0.24272	0.3136985051789969	0.31282	.	.	0.742384672165	0.73323	T	0.009841	0.08928	T	-0.207607	0.19718	T	-0.53599	0.18692	T	0.78186959028244	0.45167	D	0.458254	0.13193	T	0.035216514	0.04101	0.06305479	0.12434	0.035216514	0.04101	0.06305479	0.12434	-4.829	0.34928	T	.	.	0.075	0.05317	B	.	.	2.163154	0.27562	17.50	0.90669692930650769	0.19920	0.26500	0.23011	N	AEFDBCI	0.058678	0.11025	N	-1.12042510639486	0.06280	0.2886882	-1.17717325620545	0.06293	0.3024426	0.988219418808279	0.31445	0.437478	0.07067	0	0.563428	0.19063	0	0.503968	0.08637	0	0.603991	0.37454	0	.	.	3.37	-0.475	0.11501	2.108000	0.41478	6.258000	0.55339	-0.353000	0.05553	1.000000	0.71638	1.000000	0.68203	0.554000	0.30269	0.2242:0.129:0.6468:0.0	7.339	0.25799	883	0.28872	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08333	982.83	36	chr4	44447949	.	G	A	982.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.55;DP=257;ExcessHet=0;FS=4.79;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-1.363;SOR=0.826	GT:AD:DP:GQ:PL	0/1:33,35:68:99:993,0,752	5	0	1	0
chr4	52060500	52060500	A	T	exonic	SPATA18	.	nonsynonymous SNV	SPATA18:NM_001297608:exon2:c.A169T:p.I57F,SPATA18:NM_145263:exon2:c.A169T:p.I57F	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	0.0171174013961	0.0068	0.00239617	0.0052	0.0017	0.0026	0	0.0029	0.0077	0.0077	0.0021	0.0053816	832	154602	rs146015590	0.0076	0.0076	0.0077	0.0075	0.0092	0.0075	0.0074	0.0090	0.0090	0.0013	0.0029	0.0013	0	0.0024	0.0005	0.0092	0.0056	0.0024	0.0050	0.0050	0.0055	0.0046	0.0087	0.0047	0.0046	0.0081	0.0079	0.0014	0.0197	0.0032	0.0009	0	0.0025	0	0.0087	0.0033	0.0031	0.014	0.53172	D	0.016	0.60972	D	0.99	0.63424	D	0.858	0.61127	P	0.000002	0.62929	D	0.098567	0.99926	0.46490	D	2.87	0.83286	M	0.98	0.42122	T	-2.82	0.59545	D	0.853	0.85343	-0.8129	0.54374	T	0.156	0.48721	T	10	0.017401904	0.00371	T	0.017117	0.38687	T	0.317	0.63904	.	.	0.388334884743	0.38444	0.6302318328864036	0.62957	0.78974161505	0.65715	0.59891474247	0.52751	T	0.304914	0.67719	T	-0.203736	0.20267	T	-0.0550412	0.66677	D	0.0297796752782821	0.01956	T	0.842016	0.59782	T	0.37560984	0.58996	0.28469527	0.54469	0.37560984	0.58996	0.28469527	0.54468	-4.2	0.26751	T	.	.	0.370	0.68648	A	.;.	.;.	3.489462	0.48768	22.7	0.98757675301599745	0.45755	0.80657	0.40238	D	AEFDBI	0.221062	0.34574	N	0.425698752429121	0.62840	4.50666	0.361547811398894	0.59205	4.096573	0.640846857418353	0.22052	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.579976	0.35079	0	.	.	4.9	3.72	0.41857	3.393000	0.52286	6.195000	0.54818	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9006:0.0:0.0994:0.0	7.195	0.25021	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1344.83	33	chr4	52060500	.	A	T	1344.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.505;DP=271;ExcessHet=0;FS=3.801;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=1.51;SOR=0.808	GT:AD:DP:GQ:PL	0/1:44,54:98:99:1355,0,1010	5	0	1	0
chr4	68064747	68064747	G	A	exonic	TMPRSS11F	.	nonsynonymous SNV	TMPRSS11F:NM_207407:exon8:c.C953T:p.S318F	.	433	1072	17	0	0	17	0.00786673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374	.	0.0082	0.00259585	0.0086	0.0013	0.0022	0	0.0089	0.0136	0.0055	0.0024	0.0085445	1321	154602	rs143544573	0.0088	0.0088	0.0088	0.0088	0.0104	0.0087	0.0086	0.0102	0.0102	0.0012	0.0028	0.0039	5.04e-05	0.0076	0.0071	0.0104	0.0072	0.0018	0.0069	0.0069	0.0071	0.0067	0.0113	0.0065	0.0064	0.0107	0.0104	0.0016	0	0.0056	0.0035	0.0002	0.0076	0	0.0113	0.0104	0.0014	0.001	0.78490	D	0.002	0.79402	D	0.919	0.50927	P	0.407	0.44712	B	0.003800	0.34487	N	0.207319	0.992056	0.41543	D	1.565	0.39561	L	-2.55	0.89561	D	-4.65	0.79399	D	0.247	0.27910	-0.0072	0.82107	T	0.429	0.77120	T	10	0.0052728355	0.00115	T	.	.	.	0.374	0.69273	.	.	0.860412130432	0.85906	0.6030460757054907	0.60235	0.0744376115572	0.08353	0.428454965353	0.28998	T	0.344002	0.71257	T	-0.38425	0.02928	T	-0.311099	0.43541	T	0.059439575268213	0.07080	T	0.727827	0.34232	T	0.44317266	0.63607	0.4944546	0.70761	0.44317266	0.63607	0.4944546	0.70762	-7.215	0.55589	T	.	.	0.120	0.24666	B	.	.	1.890388	0.24013	16.24	0.99747241083990501	0.84002	0.76726	0.37653	D	AEFI	0.169536	0.29637	N	0.156847973713837	0.49137	3.117465	0.204558714955639	0.50100	3.205632	1.28248467279848E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.92	4.0	0.45673	1.089000	0.30501	.	.	0.676000	0.76740	0.308000	0.25396	0.972000	0.29809	0.913000	0.44837	0.0:0.0:0.6819:0.3181	12.357	0.54509	931	0.16308	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin 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	0.008560	0.000000	0.012228	0.008772	0.000000	0.034483	0.006098	0.003788	0.08333	1212.83	36	chr4	68064747	.	G	A	1212.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.367;DP=277;ExcessHet=0;FS=2.833;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=1.05;SOR=0.451	GT:AD:DP:GQ:PL	0/1:40,47:87:99:1223,0,980	5	0	1	0
chr4	68064906	68064906	G	A	exonic	TMPRSS11F	.	nonsynonymous SNV	TMPRSS11F:NM_207407:exon8:c.C794T:p.A265V	.	.	.	.	.	.	.	.	.	.	.	2201479	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.165	0.0141443781494	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1002449715	4.105e-06	4.104e-06	6.808e-06	1.375e-06	2.238e-05	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	2.238e-05	0	0	0	0	4.497e-06	0	0	1.314e-05	1.313e-05	2.57e-05	0	0.0001	2.18e-06	8.2e-07	2.26e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.121638	0.18988	N	0.517185	0.999957	0.19072	N	0.765	0.19305	N	-2.33	0.87910	D	1.05	0.01314	N	0.09	0.06854	-0.8535	0.51725	T	0.327	0.69530	T	10	0.062386453	0.07968	T	0.014144	0.34055	T	0.165	0.42395	0.655	0.79276	0.515430650102	0.51184	0.3551207991011811	0.35426	0.0649570242804	0.07257	0.255322277546	0.04350	T	0.040001	0.25382	T	-0.170694	0.25129	T	-0.400102	0.33372	T	0.0700038583079609	0.08652	T	0.425957	0.11436	T	0.039472826	0.05456	0.07228437	0.15577	0.039472826	0.05456	0.07228437	0.15577	-2.8	0.08184	T	.	.	0.076	0.06114	B	.	.	1.227234	0.16217	12.39	0.82504646046438124	0.14227	0.09832	0.15498	N	AEFI	0.065353	0.12743	N	-0.713857050990377	0.15632	0.7894689	-0.559819856416212	0.20546	1.107405	5.64413152063872E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.71	3.02	0.33970	0.249000	0.17989	.	.	0.676000	0.76740	0.055000	0.21596	0.933000	0.28592	0.995000	0.73285	0.2776:0.0:0.7224:0.0	7.450	0.26406	932	0.16191	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1021.83	36	chr4	68064906	.	G	A	1021.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.792;DP=262;ExcessHet=0;FS=0.932;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=-0.675;SOR=0.497	GT:AD:DP:GQ:PL	0/1:32,40:72:99:1032,0,840	5	0	1	0
chr4	68945392	68945392	A	C	exonic	UGT2A3	.	nonsynonymous SNV	UGT2A3:NM_024743:exon2:c.T778G:p.W260G	.	1	1406	110	5	0	120	0.0409277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.429	.	0.0028	0.00698882	0.0073	0.0005	0.0013	0	0	0.0036	0.0145	0.0372	0.00641	991	154602	rs62641705	0.0041	0.0041	0.0028	0.0053	0.0384	0.0040	0.0039	0.0373	0.0369	0.0003	0.0010	0.0215	7.576e-05	5.629e-05	0.0172	0.0014	0.0057	0.0384	0.0030	0.0030	0.0030	0.0030	0.0359	0.0027	0.0027	0.0315	0.0298	0.0002	0	0.0015	0.0239	0.0002	0.0003	0.0102	0.0022	0.0033	0.0359	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	0.986033	0.81001	D	3.65	0.94181	H	0.11	0.61208	T	-12.01	0.99630	D	0.741	0.74098	-0.0049	0.82155	T	0.447	0.78252	T	10	0.012360334	0.00266	T	.	.	.	0.429	0.73590	.	.	0.758552508207	0.75635	0.49207756518636214	0.49128	0.0192299428785	0.01881	0.445290029049	0.31300	T	0.210524	0.57104	T	-0.218644	0.18177	T	-0.0596829	0.66354	T	0.126290748303984	0.15035	T	.	.	.	0.91043717	0.92336	0.72808266	0.83935	0.91043717	0.92337	0.72808266	0.83936	-10.86	0.78884	D	.	.	0.635	0.70300	P	.	.	3.289622	0.45108	22.1	0.97635165120610046	0.35046	0.95821	0.66297	D	AEFBI	0.805579	0.73012	D	0.596173627938472	0.72934	5.884708	0.424873680903011	0.63117	4.539405	0.998945740685995	0.38034	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.23	3.23	0.36150	5.361000	0.65845	.	.	0.572000	0.28966	1.000000	0.71638	1.000000	0.68203	0.008000	0.08271	1.0:0.0:0.0:0.0	9.770	0.39750	644	0.63734	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014161	0.000000	0.006793	0.000000	0.050000	0.008621	0.024390	0.026515	0.08333	583.83	34	chr4	68945392	.	A	C	583.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.04;DP=226;ExcessHet=0;FS=3.623;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=0.086;SOR=1.101	GT:AD:DP:GQ:PL	0/1:33,25:58:99:594,0,814	5	0	1	0
chr4	86891498	86891498	T	C	exonic	C4orf36	.	nonsynonymous SNV	C4orf36:NM_001369888:exon2:c.A23G:p.K8R,C4orf36:NM_001369889:exon2:c.A23G:p.K8R,C4orf36:NM_144645:exon2:c.A23G:p.K8R	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.00471908728785	7.7e-05	.	9.061e-05	0	0	0	0	0.0002	0	0	7.76e-05	12	154602	rs374528405	5.267e-05	5.267e-05	4.492e-05	6.05e-05	0.0003	4.277e-05	3.953e-05	6.092e-05	4.653e-05	2.987e-05	2.236e-05	3.826e-05	0	0	0.0003	6.295e-05	1.656e-05	1.159e-05	7.88e-05	7.874e-05	0.0001	4.03e-05	0.0002	4.494e-05	3.51e-05	9.049e-05	7.013e-05	0	0	0	0.0003	0	0	0	0.0002	0	0	0.289	0.15406	T	0.303	0.25362	T	0.087	0.24971	B	0.058	0.26451	B	0.006627	0.31903	N	0.221215	0.987501	0.24510	N	1.445	0.36358	L	1.45	0.32482	T	-1.45	0.35597	N	0.139	0.13769	-1.0305	0.20292	T	0.036	0.15640	T	10	0.0759289	0.11797	T	0.004719	0.11753	T	0.154	0.40340	.	.	0.255270683199	0.25152	0.03257472101330136	0.03205	0.386643288285	0.39955	.	.	.	0.00264	0.02035	T	-0.237871	0.15622	T	-0.315033	0.43118	T	0.0724864676594734	0.08995	T	0.566043	0.20025	T	0.07392217	0.16553	0.07378	0.16069	0.07392217	0.16553	0.07378	0.16069	-3.412	0.15218	T	.	.	0.089	0.12797	B	.;.;.;.	.;.;.;.	2.118243	0.26958	17.30	0.99597484177260553	0.73983	0.46353	0.27741	N	AEFDBCI	0.139514	0.26114	N	-0.577954801343112	0.19615	1.027995	-0.461239459799607	0.23231	1.265798	0.99995585679932	0.48110	0.455138	0.09556	0	0.541556	0.11502	0	0.606884	0.38211	0	0.444512	0.06955	0	.	.	5.17	1.51	0.22094	0.382000	0.20364	0.089000	0.14491	0.665000	0.62972	0.998000	0.41325	0.468000	0.25038	0.917000	0.45243	0.0:0.3025:0.0:0.6975	6.296	0.20293	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.017241	0.000000	0.000000	0.08333	370.83	50	chr4	86891498	.	T	C	370.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.919;DP=251;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.51;ReadPosRankSum=1.84;SOR=0.616	GT:AD:DP:GQ:PL	0/1:23,16:39:99:381,0,539	5	0	1	0
chr4	87662338	87662338	G	A	exonic	DMP1	.	nonsynonymous SNV	DMP1:NM_001079911:exon5:c.G512A:p.S171N,DMP1:NM_004407:exon6:c.G560A:p.S187N	Hypophosphatemic rickets, AR, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.0264941962356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.04	0.63918	D	0.853	0.47048	P	0.773	0.56974	P	0.000431	0.44522	D	0.101945	0.791285	0.34390	D	2.725	0.79712	M	0.4	0.57261	T	-2.38	0.52451	N	0.208	0.31814	-0.5536	0.66650	T	0.280	0.65219	T	10	0.22683468	0.39548	T	0.026494	0.49402	D	0.162	0.41843	0.291	0.25241	0.895650976967	0.89462	0.08547272091651853	0.08481	0.344505611829	0.36384	0.481585949659	0.36276	T	0.182787	0.53492	T	-0.189068	0.22394	T	-0.509359	0.21381	T	0.942997634410858	0.61772	D	0.831017	0.49766	T	0.2342021	0.46237	0.23362358	0.48557	0.2342021	0.46237	0.23362358	0.48556	-5.661	0.43344	T	0.6620875090610432	0.73574	0.122	0.33249	B	.;.	.;.	3.283148	0.44992	22.0	0.99245078662065755	0.56662	0.95200	0.63808	D	AEFBI	0.415462	0.48431	N	0.387066000302187	0.60720	4.264187	0.333481732856035	0.57519	3.917804	0.457211480890628	0.20593	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.28	5.28	0.74118	1.403000	0.34220	8.678000	0.78033	0.618000	0.50648	0.028000	0.20300	1.000000	0.68203	0.372000	0.26156	0.0:0.0:1.0:0.0	15.821	0.78424	419	0.81524	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1194.83	33	chr4	87662338	.	G	A	1194.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.165;DP=263;ExcessHet=0;FS=1.181;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=22.13;ReadPosRankSum=2.09;SOR=1.022	GT:AD:DP:GQ:PL	0/1:16,38:54:99:1205,0,371	5	0	1	0
chr4	102025402	102025402	C	T	exonic	BANK1	.	nonsynonymous SNV	BANK1:NM_001127507:exon8:c.C1088T:p.P363L,BANK1:NM_001083907:exon9:c.C1397T:p.P466L,BANK1:NM_017935:exon9:c.C1487T:p.P496L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0297551291474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.127	0.35082	T	0.001	0.09854	B	0.004	0.10090	B	0.685964	0.10217	N	0.842623	1	0.08975	N	0.345	0.11182	N	0.59	0.53943	T	-3.03	0.62747	D	0.036	0.03726	-1.0218	0.23129	T	0.105	0.38489	T	10	0.08674291	0.14773	T	0.029755	0.52206	D	0.033	0.08068	0.263	0.20788	0.470484629704	0.46675	0.2642836818777566	0.26341	0.116420580842	0.13130	0.269536674023	0.06081	T	0.359655	0.72603	T	-0.283991	0.10249	T	-0.64571	0.09259	T	0.15950396205797	0.17835	T	0.740126	0.35895	T	0.061067473	0.12605	0.08291576	0.18962	0.061067473	0.12605	0.08291576	0.18961	-3.469	0.19067	T	.	.	0.077	0.06710	B	.;.;.;.;.	.;.;.;.;.	0.319449	0.06938	3.486	0.95945535105722601	0.28256	0.02191	0.06404	N	AEFI	0.052957	0.09501	N	-0.822823035378555	0.12728	0.622294	-0.832521918755112	0.13708	0.712609	4.31051462611469E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	4.9	2.94	0.33188	0.018000	0.13315	0.315000	0.17124	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.2243:0.5859:0.0:0.1898	5.275	0.14956	910	0.22284	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1614.83	39	chr4	102025402	.	C	T	1614.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.461;DP=275;ExcessHet=0;FS=1.705;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.48;ReadPosRankSum=0.579;SOR=0.925	GT:AD:DP:GQ:PL	0/1:36,62:98:99:1625,0,890	5	0	1	0
chr4	140563137	140563137	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G601C:p.A201P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.0293953235492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.759e-05	0.0002	3.296e-05	2.218e-05	3.267e-05	2.08e-05	1.831e-05	2.392e-05	2.122e-05	3.018e-05	0	0	0	0	0	3.267e-05	1.667e-05	2.335e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.22312	T	0.203	0.27325	T	0.949	0.53761	P	0.761	0.56482	P	0.008935	0.30598	N	0.367111	1	0.08975	N	3.205	0.89189	M	-1.23	0.78860	T	-2.05	0.47008	N	0.643	0.65501	-0.4766	0.69490	T	0.493	0.80757	T	10	0.76555115	0.76675	D	0.029395	0.51914	D	0.377	0.69527	0.425	0.47021	0.867737003841	0.86645	0.8997779227898309	0.89949	0.733378337434	0.62839	0.275326251984	0.06849	T	0.503659	0.82306	D	0.0583213	0.59402	T	-0.154002	0.58889	T	0.917825281620026	0.57582	D	0.40366	0.10339	T	0.28733265	0.51744	0.26873308	0.52745	0.28733265	0.51744	0.26873308	0.52744	-7.449	0.57250	T	.	.	0.826	0.78531	P	.	.	2.363669	0.30321	18.40	0.99216242249267406	0.55747	0.70984	0.34819	D	AEFBI	0.260905	0.37897	N	-0.150634784784455	0.35206	2.019386	-0.344403961495631	0.26682	1.475416	0.680793574183654	0.22476	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.22	0.338	0.15214	1.750000	0.37956	-0.150000	0.11428	-0.176000	0.10722	0.930000	0.32276	0.000000	0.08366	0.270000	0.23768	0.1804:0.289:0.0:0.5306	3.693	0.07887	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	934.55	65	chr4	140563137	.	C	G	934.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.76;DP=431;ExcessHet=11.5949;FS=323.709;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.43;ReadPosRankSum=-0.33;SOR=8.104	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,15:53:82:0|1:140563137_C_G:82,0,1203:140563137	0	0	6	0
chr4	140563138	140563138	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G600C:p.E200D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0146202776725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	2.052e-06	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	0.05137	T	0.791	0.04181	T	0.004	0.12183	B	0.007	0.12992	B	0.003241	0.35241	N	0.324932	0.999999	0.08975	N	0.56	0.15190	N	-1.27	0.79277	T	-0.52	0.16187	N	0.133	0.12913	-1.0108	0.26666	T	0.158	0.49027	T	10	0.05424103	0.05744	T	0.01462	0.34856	T	0.090	0.26093	0.368	0.37687	0.494433119893	0.49078	0.5936266468194845	0.59292	0.149167586053	0.16817	0.271067947149	0.06281	T	0.121596	0.44467	T	-0.194226	0.21639	T	-0.516769	0.20622	T	0.0746878460049629	0.09294	T	0.60264	0.22576	T	0.06687306	0.14429	0.04191142	0.04870	0.06687306	0.14429	0.04191142	0.04870	-4.395	0.29489	T	.	.	0.106	0.19720	B	.	.	0.547365	0.09157	5.942	0.36715842428115708	0.02377	0.06566	0.12580	N	AEFBI	0.061408	0.11738	N	-1.30471918549485	0.03621	0.1620578	-1.29537821251235	0.04493	0.2120394	0.729658486604041	0.23029	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.22	-1.38	0.08554	-1.260000	0.02967	-2.964000	0.03187	-0.218000	0.08083	0.004000	0.16614	0.000000	0.08366	0.312000	0.24784	0.2442:0.2523:0.3582:0.1453	2.216	0.03717	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	969.55	63	chr4	140563138	.	C	G	969.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.563;DP=431;ExcessHet=11.5949;FS=374.425;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.57;ReadPosRankSum=-0.184;SOR=9.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,15:53:82:0|1:140563137_C_G:82,0,1203:140563137	0	0	6	0
chr4	146639305	146639305	-	GGCGGCGGCGGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.165_166insGGCGGCGGCGGC:p.G68_R69insGGGG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs530695040	0.0061	0.0053	0.0060	0.0061	0.0072	0.0059	0.0059	0.0063	0.0062	0.0072	0.0016	0.0020	0.0004	0.0173	0.0013	0.0064	0.0036	0.0006	0.0074	0.0074	0.0071	0.0077	0.0072	0.0070	0.0069	0.0066	0.0064	0.0071	0	0.0048	0.0017	0.0011	0.0235	0	0.0072	0.0054	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	8349.33	49	chr4	146639305	.	T	TGGCGGCGGCGGC	8349.33	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.648;DP=288;ExcessHet=0;FS=1.939;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=28.39;ReadPosRankSum=0.816;SOR=1.385	GT:AD:DP:GQ:PL	0/1:1,16:34:99:1277,621,647	5	0	1	0
chr4	151656246	151656246	G	A	exonic	FAM160A1	.	nonsynonymous SNV	FAM160A1:NM_001348694:exon11:c.G2566A:p.V856I,FAM160A1:NM_001109977:exon12:c.G2566A:p.V856I	.	422	1099	1	0	0	1	0.000454752	.	.	.	2755738	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.198	0.00824945657894	.	.	0.0004	0	0	0	0	0	0	0.0010	5.82e-05	9	154602	rs369125491	7.361e-05	7.182e-05	5.359e-05	9.418e-05	0.0007	6.177e-05	5.769e-05	0.0005	0.0005	0	5.602e-05	0	0	0.0004	0.0002	1.761e-05	0.0001	0.0007	5.911e-05	5.905e-05	5.141e-05	6.716e-05	0.0004	3.076e-05	2.209e-05	7.31e-05	3.036e-05	2.408e-05	0	6.534e-05	0	0	0.0004	0	1.47e-05	0	0.0004	0.008	0.58626	D	0.011	0.64786	D	0.999	0.77913	D	0.604	0.50922	P	.	.	.	.	0.99749	0.43934	D	2.53	0.73802	M	2.33	0.16492	T	-0.82	0.22508	N	0.258	0.29659	-1.0791	0.07524	T	0.084	0.32729	T	9	0.13535148	0.25756	T	0.008249	0.21853	T	0.198	0.48105	0.221	0.14371	0.134241683229	0.13084	0.31098400017869293	0.31011	.	.	0.742983937263	0.73412	T	0.037811	0.24611	T	-0.39076	0.02660	T	-0.439392	0.28876	T	0.236919277856821	0.22277	T	0.911109	0.68490	D	0.17616093	0.38513	0.1902983	0.42425	0.17616093	0.38513	0.1902983	0.42424	-9.364	0.70010	D	.	.	0.330	0.56760	B	.;.	.;.	5.171023	0.86670	29.0	0.99707609432796351	0.81074	0.99104	0.91284	D	AEFBI	0.887324	0.81947	D	0.759549624615598	0.83524	8.040334	0.776809052401499	0.88137	9.471377	0.999999999999997	0.74766	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.586402	0.36253	0	.	.	5.45	5.45	0.79688	9.888000	0.98558	11.844000	0.97886	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.281	0.94039	317	0.87119	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1053.83	36	chr4	151656246	.	G	A	1053.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.07;DP=241;ExcessHet=0;FS=3.599;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.73;ReadPosRankSum=0.313;SOR=1.236	GT:AD:DP:GQ:PL	0/1:27,36:63:99:1064,0,637	5	0	1	0
chr4	155904040	155904040	G	T	exonic	TDO2	.	nonsynonymous SNV	TDO2:NM_005651:exon2:c.G58T:p.V20L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00768367933264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.587	0.05862	T	0.683	0.06052	T	0.0	0.02946	B	0.0	0.01387	B	0.144533	0.18175	N	0.591813	1	0.08975	N	-0.46	0.02758	N	.	.	.	-0.28	0.11547	N	0.136	0.13341	-1.0043	0.28666	T	0.019	0.07846	T	9	0.047316045	0.04033	T	0.007684	0.20378	T	0.022	0.04323	0.307	0.27806	0.0401082797425	0.02173	0.2023192322438967	0.20148	0.0252766451605	0.02574	0.221755892038	0.01414	T	0.102154	0.40959	T	-0.343456	0.05153	T	-0.731127	0.04277	T	0.0379780615801894	0.03329	T	.	.	.	0.03470662	0.03946	0.029658701	0.01328	0.03470662	0.03946	0.029658701	0.01328	-3.528	0.16826	T	.	.	0.068	0.02927	B	.	.	-1.399997	0.00360	0.007	0.16988982330159921	0.00477	0.03179	0.08160	N	AEFBI	0.376835	0.46083	N	-1.47792515964626	0.02006	0.08815696	-1.43825062443839	0.02878	0.1332229	0.0871820179271883	0.16028	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.59	-2.48	0.06052	-0.718000	0.05083	.	.	-0.126000	0.13398	0.000000	0.06391	0.000000	0.08366	0.258000	0.23468	0.1498:0.1818:0.1601:0.5083	2.194	0.03667	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	709.83	34	chr4	155904040	.	G	T	709.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.083;DP=230;ExcessHet=0;FS=5.46;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.2;SOR=0.363	GT:AD:DP:GQ:PL	0/1:26,31:57:99:720,0,526	5	0	1	0
chr4	158645088	158645088	A	T	exonic	RXFP1	.	nonsynonymous SNV	RXFP1:NM_001253729:exon13:c.A1151T:p.Y384F,RXFP1:NM_001253728:exon14:c.A1196T:p.Y399F,RXFP1:NM_001253730:exon14:c.A902T:p.Y301F,RXFP1:NM_001253727:exon15:c.A1376T:p.Y459F,RXFP1:NM_001253733:exon15:c.A827T:p.Y276F,RXFP1:NM_021634:exon15:c.A1295T:p.Y432F,RXFP1:NM_001253732:exon16:c.A899T:p.Y300F,RXFP1:NM_001363776:exon16:c.A1052T:p.Y351F	.	430	1051	39	2	0	43	0.0200466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	.	0.0018	0.00379393	0.0024	0.0006	0.0022	0	0.0005	0.0024	0.0022	0.0060	0.0024579	380	154602	rs76517567	0.0028	0.0028	0.0026	0.0029	0.0087	0.0027	0.0027	0.0068	0.0061	0.0006	0.0015	0.0004	0	0.0004	0.0087	0.0028	0.0025	0.0066	0.0021	0.0021	0.0019	0.0022	0.0071	0.0019	0.0018	0.0052	0.0046	0.0005	0	0.0017	0	0	0.0004	0.0136	0.0033	0.0019	0.0071	0.678	0.04713	T	1.0	0.02471	T	0.0	0.07471	B	0.001	0.14941	B	0.000000	0.84330	D	0.055071	0.998881	0.45620	D	0.125	0.08623	N	1.27	0.36146	T	-0.14	0.10656	N	0.347	0.38950	-1.0780	0.07741	T	0.025	0.10777	T	10	0.00875029	0.00198	T	.	.	.	0.187	0.46274	.	.	0.42828666871	0.42450	0.4035505940782954	0.40271	0.134654301779	0.15172	0.440155625343	0.30598	T	0.003769	0.33668	T	-0.439762	0.01297	T	-0.401852	0.33168	T	0.0134647964104998	0.00245	T	0.885211	0.61002	D	0.17550364	0.38412	0.10294074	0.24686	0.17550364	0.38412	0.10294074	0.24686	-4.574	0.32134	T	.	.	0.088	0.13174	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.035924	0.25880	16.92	0.91066534062621174	0.20318	0.97637	0.76068	D	AEFDBI	0.862811	0.78119	D	-0.397811946846213	0.25546	1.387581	-0.132525958353084	0.34088	1.956928	0.999999948736557	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.76	4.57	0.55860	5.168000	0.64817	1.582000	0.27480	0.756000	0.94297	1.000000	0.71638	0.231000	0.23784	0.998000	0.85391	0.9314:0.0:0.0686:0.0	11.844	0.51644	927	0.17636	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003024	0.005051	0.001359	0.005848	0.000000	0.000000	0.006135	0.003788	0.08333	888.83	34	chr4	158645088	.	A	T	888.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.703;DP=237;ExcessHet=0;FS=2.251;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=-1.52;SOR=1.125	GT:AD:DP:GQ:PL	0/1:26,36:62:99:899,0,708	5	0	1	0
chr4	159341677	159341677	C	T	exonic	RAPGEF2	.	nonsynonymous SNV	RAPGEF2:NM_001351727:exon14:c.C2165T:p.A722V,RAPGEF2:NM_001351728:exon14:c.C2165T:p.A722V,RAPGEF2:NM_014247:exon14:c.C2165T:p.A722V,RAPGEF2:NM_001351725:exon17:c.C2300T:p.A767V,RAPGEF2:NM_001351726:exon17:c.C2300T:p.A767V,RAPGEF2:NM_001351724:exon20:c.C2648T:p.A883V	.	438	1080	4	0	0	4	0.00184843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.809	0.19769410861	.	0.000399361	0.0007	0	0.0003	0	0	0	0	0.0051	0.0005951	92	154602	rs549339908	0.0003	0.0003	0.0002	0.0005	0.0051	0.0003	0.0003	0.0047	0.0045	2.987e-05	2.236e-05	0	0	0	0.0010	3.597e-06	0.0002	0.0051	0.0001	0.0001	5.141e-05	0.0002	0.0035	8.66e-05	7.252e-05	0.0022	0.0018	0	0	0	0	0	0	0	2.94e-05	0.0005	0.0035	0.001	0.78490	D	0.0	0.92824	D	0.985	0.61118	D	0.987	0.77487	D	0.000000	0.84330	D	0.046411	1	0.81001	D	3.65	0.94181	H	-0.58	0.71425	T	-3.67	0.70191	D	0.843	0.83885	0.640	0.92418	D	0.706	0.89904	D	10	0.07724005	0.12167	T	0.197694	0.86552	D	0.809	0.93816	0.838	0.94479	0.910330845944	0.90943	0.906913232815615	0.90664	1.77477102259	0.91327	0.80330312252	0.82468	D	0.596087	0.86986	D	0.0558042	0.59083	T	0.308749	0.88596	D	0.343511576734591	0.26762	T	0.990501	0.97045	D	0.6503522	0.75383	0.6419444	0.79078	0.6503522	0.75384	0.6419444	0.79079	-13.686	0.91992	D	.	.	0.964	0.90831	P	.;.;.	.;.;.	4.307824	0.65834	24.9	0.99928107718192161	0.99222	0.97451	0.74834	D	ALL	0.865847	0.78508	D	1.06286664936056	0.97383	16.03584	0.974724605747922	0.98075	17.37238	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.76	5.76	0.90726	7.884000	0.85773	7.724000	0.67448	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.0:1.0:0.0:0.0	20.328	0.98707	862	0.33134	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|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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	652.83	38	chr4	159341677	.	C	T	652.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.849;DP=257;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.16;ReadPosRankSum=-1.645;SOR=0.638	GT:AD:DP:GQ:PL	0/1:49,31:80:99:663,0,1315	5	0	1	0
chr4	176711629	176711629	G	A	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C574T:p.L192F	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.00709646966142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.32568	T	0.99	0.63424	D	0.74	0.55692	P	0.000002	0.62929	D	0.060984	0.999996	0.58761	D	1.165	0.29723	L	.	.	.	.	.	.	0.442	0.48042	-0.7268	0.59124	T	0.273	0.64432	T	9	0.41563517	0.56522	T	0.007096	0.18814	T	.	.	0.332	0.31843	0.372993862945	0.36913	0.23457238583144535	0.23372	.	.	0.52389973402	0.42176	T	0.500358	0.82098	D	-0.0598146	0.42937	T	-0.323696	0.42167	T	0.98143208026886	0.73910	D	0.871013	0.57621	D	0.729046	0.79670	0.56834745	0.75010	0.729046	0.79671	0.56834745	0.75011	-8.172	0.62236	D	.	.	0.237	0.47116	B	.	.	3.786447	0.54474	23.5	0.99893630150429635	0.96742	0.93267	0.57762	D	AEFDGBIJ	0.738481	0.68334	D	0.594229245697589	0.72814	5.865255	0.647522809529533	0.78427	6.873986	0.999999999071338	0.74766	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	4.780000	0.62075	7.388000	0.58495	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	56.1	43	chr4	176711629	.	G	A	56.1	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.634;DP=323;ExcessHet=0;FS=106.274;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.98;ReadPosRankSum=2.6;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,10:57:50:0|1:176711629_G_A:50,0,1639:176711629	5	0	1	0
chr4	176711631	176711631	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C572G:p.P191R	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	1678376	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.573	0.0164080950575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0079	0.0007	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0004	0.0001	0.0006	0.0005	0.0003	0.0004	0.0007	0.0006	0.0001	0	1.318e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.004	0.74150	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.78	0.81115	M	.	.	.	.	.	.	0.909	0.91047	-0.3248	0.74287	T	0.394	0.74735	T	9	0.8736812	0.86647	D	0.016408	0.37653	T	.	.	0.546	0.66015	0.51627217869	0.51271	0.670927250296511	0.67030	.	.	0.735086381435	0.72250	T	0.838317	0.96206	D	0.453469	0.92634	D	0.414	0.92543	D	0.994541704654694	0.85897	D	0.888611	0.61875	D	0.8869157	0.90244	0.57547873	0.75406	0.8869157	0.90246	0.57547873	0.75407	-14.113	0.93418	D	.	.	0.912	0.83607	P	.	.	5.440469	0.90928	32	0.99696376373392925	0.80316	0.99228	0.93120	D	AEFDGBIJ	0.929678	0.91581	D	0.858986860426177	0.89613	10.04438	0.885812039272356	0.94923	13.15767	1.0	0.98316	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	9.591000	0.97403	11.818000	0.97148	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.2	63.8	43	chr4	176711631	.	G	C	63.8	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-1.284;DP=357;ExcessHet=0.4139;FS=106.274;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.64;ReadPosRankSum=2.06;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,10:57:50:0|1:176711629_G_A:50,0,1639:176711629	3	0	2	1
chr4	183506316	183506316	C	T	exonic	ING2	.	nonsynonymous SNV	ING2:NM_001291959:exon1:c.C50T:p.P17L	.	.	.	.	.	.	.	.	0.0001	0.01	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00379177346905	.	0.000399361	0.0006	0	0	0	0	0.0006	0	0.0008	0.0001035	16	154602	rs182791509	0.0002	0.0001	0.0001	0.0002	0.0007	0.0001	0.0001	0.0004	0.0004	4.097e-05	0.0005	0.0004	0	0	0.0007	0.0001	0.0002	0.0006	0.0002	0.0002	0.0002	0.0003	0.0012	0.0002	0.0002	0.0008	0.0007	2.406e-05	0	0.0012	0	0	0	0	0.0002	0.0005	0.0004	0.006	0.61437	D	0.065	0.44702	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	0.7	0.02163	N	.	.	-1.0299	0.20487	T	0.057	0.23942	T	7	0.009250671	0.00209	T	0.003792	0.08837	T	0.016	0.02506	.	.	0.329020015101	0.32502	.	.	.	.	.	.	.	0.041368	0.25834	T	-0.485707	0.00686	T	-0.570162	0.15434	T	0.0376308895647526	0.03267	T	0.436356	0.11970	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.41402	B	.	.	0.152998	0.05450	1.919	0.81160138949359961	0.13549	0.01597	0.05185	N	ALL	0.054092	0.09803	N	-1.13006353562555	0.06114	0.2805923	-1.21276692302849	0.05705	0.272537	0.999999999999231	0.74766	0.006267	0.00052	3	0.093493	0.02558	3	0.47417	0.07244	0	0.003489	0.00041	3	.	.	4.25	-0.825	0.10263	-0.959000	0.03963	-3.761000	0.02554	-0.341000	0.05685	0.000000	0.06391	0.000000	0.08366	0.043000	0.14563	0.1491:0.4521:0.1367:0.262	1.58	0.02474	900	0.24599	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1443.83	34	chr4	183506316	.	C	T	1443.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.582;DP=307;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=1.78;SOR=0.697	GT:AD:DP:GQ:PL	0/1:66,64:130:99:1454,0,1433	5	0	1	0
chr4	189953101	189953101	C	T	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon4:c.C293T:p.T98M	.	169	1019	334	0	0	334	0.140809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	.	.	.	0.4080	0.3423	0.3991	0.3531	0.3948	0.4099	0.4323	0.4613	0.0003816	59	154602	rs201275486	7.611e-05	0.0007	8.045e-05	7.169e-05	0.0003	6.427e-05	5.97e-05	0.0002	0.0002	6.318e-05	0.0003	0.0001	2.682e-05	0.0001	0.0003	5.437e-05	5.221e-05	0.0003	7.555e-05	0.0010	4.012e-05	0.0001	5.02e-05	4.146e-05	3.255e-05	8.32e-06	3.11e-06	5.02e-05	0	0	0	0	0.0007	0	3.052e-05	0	0	0.04	0.42199	D	0.067	0.44302	T	0.952	0.54136	P	0.4	0.44481	B	0.000001	0.84330	D	0.093692	1	0.81001	D	.	.	.	1.78	0.52642	T	-4.29	0.76414	D	0.333	0.37405	-0.8920	0.48758	T	0.126	0.43174	T	9	0.005040586	0.00109	T	.	.	.	0.267	0.58126	.	.	.	.	0.7086331413770478	0.70805	0.761265370882	0.64277	0.643288969994	0.59033	T	0.592736	0.86832	D	0.145454	0.68842	D	-0.0288412	0.68446	D	0.0610726985776521	0.07336	T	.	.	.	0.11254749	0.26589	0.23484966	0.48713	0.11254749	0.26589	0.23484966	0.48712	-9.66	0.71851	D	.	.	0.172	0.47039	B	.;.	.;.	3.588897	0.50628	23.0	0.99818926167319089	0.90238	0.93303	0.57857	D	AEFBI	0.649950	0.62423	D	0.332693509411821	0.57835	3.952406	0.333491443171521	0.57519	3.917869	0.999999999185946	0.74766	0.732398	0.92422	0	0.644132	0.57912	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	3.71	3.71	0.41733	4.481000	0.59983	3.605000	0.39235	-0.252000	0.07121	1.000000	0.71638	0.999000	0.35428	0.157000	0.20547	0.0:1.0:0.0:0.0	13.859	0.63048	991	0.01385	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.269832	0.442623	0.240437	0.270270	0.285714	0.236842	0.255725	0.272727	0.2	77.8	17	chr4	189953101	.	C	T	77.8	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-0.213;DP=69;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.2;MQ=51.78;MQRankSum=-2.151;QD=2.59;ReadPosRankSum=0.297;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,2:13:51:0|1:189953101_C_T:51,0,436:189953101	3	0	2	1
chr4	189953126	189953126	G	T	splicing	FRG1	NM_004477:exon4:c.317+1G>T	.	.	.	183	1055	284	0	0	284	0.11863	1.0000	0.936	.	794301	CIC-rearranged_sarcoma	MONDO:MONDO:0956989,MedGen:C3899764	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0032	0.0014	0.0010	0.0009	0.0020	0	0.0006	0.0001153	3	26028	rs770433406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281809	0.81469	D	0.167022	0.81231	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.592813	0.92394	32	0.99300431696382707	0.58613	0.97908	0.78038	D	AEFBI	.	.	.	1.05490941371048	0.97203	15.74775	0.843458885629421	0.92630	11.53725	0.999999998414614	0.74766	0.258101	0.04556	0	0.375	0.05954	0	0.083675	0.02720	0	0.109871	0.03346	0	0.829964	0.49773	3.53	3.53	0.39533	8.827000	0.91663	11.037000	0.85129	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	0.327000	0.25133	0.0:0.0:1.0:0.0	13.458	0.60660	991	0.01385	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	79.22	17	chr4	189953126	.	G	T	79.22	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.497;DP=62;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=52.31;MQRankSum=-2.136;QD=2.73;ReadPosRankSum=1.84;SOR=0.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,2:12:54:0|1:189953101_C_T:54,0,414:189953101	4	0	2	0
chr5	205824	205824	C	T	exonic	CCDC127	.	nonsynonymous SNV	CCDC127:NM_145265:exon3:c.G256A:p.A86T	.	433	1053	35	1	0	37	0.0172655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	.	0.0042	0.00678914	0.0062	0.0011	0.0059	0.0001	0.0008	0.0060	0.0066	0.0162	0.0059443	919	154602	rs145153903	0.0060	0.0060	0.0057	0.0063	0.0316	0.0059	0.0059	0.0278	0.0264	0.0014	0.0050	0.0048	7.557e-05	0.0018	0.0316	0.0060	0.0060	0.0128	0.0047	0.0047	0.0048	0.0046	0.0158	0.0044	0.0043	0.0129	0.0119	0.0017	0	0.0047	0.0049	0.0002	0.0013	0.0068	0.0067	0.0071	0.0158	0.067	0.35918	T	0.014	0.62352	D	0.999	0.77913	D	0.864	0.61462	P	0.000000	0.84330	D	0.047350	0.999988	0.54805	D	2.6	0.76081	M	0.88	0.46028	T	-2.07	0.47344	N	0.395	0.43610	-0.7261	0.59159	T	0.172	0.51468	T	10	0.004016757	0.00078	T	.	.	.	0.158	0.41098	.	.	0.66879460378	0.66600	0.4770682530751477	0.47626	0.748519116031	0.63645	0.646072626114	0.59428	T	0.109214	0.42290	T	-0.361365	0.04054	T	-0.280176	0.46785	T	0.0153798379553024	0.00343	T	0.927007	0.73102	D	0.15596347	0.35220	0.18596196	0.41740	0.15596347	0.35220	0.18596196	0.41739	-4.564	0.31716	T	.	.	0.236	0.46949	B	.	.	4.429426	0.68673	25.3	0.99925958010282034	0.99042	0.98477	0.83190	D	AEFGBI	0.662197	0.63215	D	0.513168609834142	0.67868	5.139405	0.437856301735222	0.63941	4.638256	0.999999999322867	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.77	4.9	0.63643	7.099000	0.76634	7.623000	0.62394	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.796000	0.37562	0.1533:0.8467:0.0:0.0	13.918	0.63419	846	0.36215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018630	0.020202	0.012228	0.032164	0.000000	0.043103	0.018293	0.011364	0.08333	1097.83	33	chr5	205824	.	C	T	1097.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.987;DP=281;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=0.298;SOR=0.733	GT:AD:DP:GQ:PL	0/1:50,49:99:99:1108,0,1250	5	0	1	0
chr5	637563	637563	G	T	exonic	CEP72	.	nonsynonymous SNV	CEP72:NM_018140:exon7:c.G951T:p.L317F	.	416	1097	9	0	0	9	0.00408534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00324495557901	0.0004	0.00159744	0.0012	0	0.0002	0	0	0.0007	0.0011	0.0061	0.0010543	163	154602	rs150033054	0.0006	0.0006	0.0004	0.0008	0.0054	0.0006	0.0006	0.0050	0.0049	0.0001	0.0003	0.0064	0	0	0.0040	0.0001	0.0011	0.0054	0.0005	0.0005	0.0004	0.0006	0.0054	0.0004	0.0004	0.0038	0.0032	2.405e-05	0	0.0010	0.0055	0	0	0.0034	0.0002	0.0005	0.0054	0.033	0.44358	D	0.07	0.43721	T	0.232	0.30664	B	0.118	0.32088	B	0.735500	0.06396	N	1.136510	1	0.08975	N	1.75	0.45442	L	2.7	0.12162	T	-0.86	0.23372	N	0.117	0.10626	-0.9808	0.34817	T	0.037	0.16073	T	10	0.004119903	0.00081	T	0.003245	0.07147	T	0.027	0.05988	0.112	0.02175	0.156986980423	0.15292	0.08609404244943407	0.08543	0.239248816487	0.26478	0.274086475372	0.06681	T	0.04308	0.26389	T	-0.632771	0.00092	T	-0.680203	0.06972	T	0.014869069177222	0.00315	T	0.305369	0.05850	T	0.050137132	0.09012	0.063994564	0.12761	0.050137132	0.09011	0.063994564	0.12760	-4.731	0.33777	T	.	.	0.084	0.09917	B	.	.	1.335271	0.17408	13.15	0.98905530388145735	0.48272	0.12029	0.17015	N	AEFDGBCI	0.039193	0.05659	N	-0.637750247959347	0.17818	0.920143	-0.697870215812265	0.17013	0.9027411	0.855436865648317	0.25123	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.76	2.94	0.33188	1.309000	0.33145	0.959000	0.22978	0.676000	0.76740	0.047000	0.21291	0.000000	0.08366	0.011000	0.09372	0.2084:0.0:0.7916:0.0	6.797	0.22915	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004032	0.000000	0.005435	0.000000	0.000000	0.000000	0.003067	0.007576	0.08333	1136.83	34	chr5	637563	.	G	T	1136.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.152;DP=286;ExcessHet=0;FS=0.757;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=0.063;SOR=0.78	GT:AD:DP:GQ:PL	0/1:62,45:107:99:1147,0,1665	5	0	1	0
chr5	14681484	14681484	G	T	exonic	OTULIN	.	nonsynonymous SNV	OTULIN:NM_138348:exon4:c.G345T:p.Q115H	Autoinflammation, panniculitis, and dermatosis syndrome, Autosomal recessive	432	1038	50	2	0	54	0.0253521	.	.	.	709711	OTULIN-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.023	0.00477743780154	0.0066	0.00219649	0.0065	0.0010	0.0055	0.0001	0.0018	0.0089	0.0045	0.0064	0.0064747	1001	154602	rs147790160	0.0067	0.0067	0.0065	0.0068	0.0347	0.0065	0.0065	0.0308	0.0293	0.0014	0.0056	0.0302	7.572e-05	0.0011	0.0347	0.0066	0.0085	0.0060	0.0053	0.0053	0.0056	0.0051	0.0074	0.0050	0.0049	0.0068	0.0066	0.0013	0.0011	0.0061	0.0303	0.0002	0.0008	0.0374	0.0074	0.0095	0.0041	0.615	0.05388	T	0.379	0.16037	T	0.019	0.17989	B	0.011	0.15521	B	0.001927	0.37643	N	0.274141	0.508344	0.31798	D	1.49	0.37298	L	2.2	0.18570	T	0.33	0.03889	N	0.23	0.25867	-1.0282	0.21038	T	0.019	0.08173	T	10	0.0037255585	0.00069	T	0.004777	0.11941	T	0.023	0.04649	0.338	0.32816	0.15499578495	0.15088	0.5815889036089006	0.58087	0.843175177624	0.68162	0.58682090044	0.51046	T	0.00726	0.06675	T	-0.523963	0.00417	T	-0.514382	0.20867	T	0.00855073918350088	0.00104	T	0.788221	0.42759	T	0.16334656	0.36471	0.07962252	0.17942	0.15677175	0.35361	0.07962252	0.17942	-5.987	0.46171	T	0.11265034767515293	0.09770	0.158	0.34992	B	.	.	2.444421	0.31468	18.75	0.98248521799550337	0.39548	0.91633	0.53936	D	AEFDGBIJ	0.155138	0.28028	N	-0.390955031988069	0.25791	1.402656	-0.199714691538719	0.31548	1.786382	0.999998231419917	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.82	4.05	0.46415	1.623000	0.36618	7.454000	0.58989	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.582000	0.30943	0.1504:0.0:0.7001:0.1495	6.257	0.20089	738	0.53389	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.030715	0.015152	0.035326	0.035088	0.050000	0.025862	0.036585	0.018939	0.08333	635.83	33	chr5	14681484	.	G	T	635.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.002;DP=237;ExcessHet=0;FS=0.923;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.08;ReadPosRankSum=-1.401;SOR=0.639	GT:AD:DP:GQ:PL	0/1:41,29:70:99:646,0,1040	5	0	1	0
chr5	16676138	16676138	G	A	exonic	MYO10	.	nonsynonymous SNV	MYO10:NM_012334:exon34:c.C4559T:p.S1520L	.	437	1066	19	0	0	19	0.0088331	.	.	.	699001	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.037	.	0.0075	0.00379393	0.0083	0.0018	0.0029	0	0.0162	0.0100	0.0101	0.0104	0.0081823	1265	154602	rs61744227	0.0098	0.0098	0.0099	0.0098	0.0105	0.0097	0.0096	0.0102	0.0102	0.0010	0.0026	0.0154	0	0.0146	0.0050	0.0104	0.0091	0.0105	0.0074	0.0074	0.0070	0.0077	0.0114	0.0070	0.0069	0.0092	0.0090	0.0022	0.0011	0.0039	0.0164	0	0.0170	0.0034	0.0098	0.0043	0.0114	0.288	0.15098	T	0.322	0.30631	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.77	0.19370	N	0.93	0.44065	T	-1.32	0.42384	N	0.232	0.26717	-1.0374	0.18109	T	0.044	0.18989	T	9	0.0017369092	0.00022	T	.	.	.	0.037	0.09474	.	.	0.306695030598	0.30287	0.34434791163501755	0.34348	0.158956117107	0.17935	0.385757118464	0.23070	T	0.029587	0.41255	T	-0.655944	0.00067	T	-0.705599	0.05525	T	0.00464057159125389	0.00050	T	0.914109	0.69400	D	0.07779695	0.17678	0.049733408	0.07660	0.07779695	0.17678	0.049733408	0.07660	-8.657	0.65464	D	.	.	0.057	0.03301	B	.;.;.;.	.;.;.;.	1.630669	0.20822	14.92	0.98931817611146089	0.48769	0.24064	0.22276	N	AEFDBI	0.191428	0.31862	N	-0.728616144975346	0.15220	0.7651713	-0.655040653138761	0.18089	0.9648197	0.999991440263865	0.74766	0.719381	0.83141	0	0.573888	0.26702	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.31	3.27	0.36580	1.956000	0.40007	3.904000	0.40368	0.676000	0.76740	0.016000	0.19238	0.727000	0.26391	0.990000	0.65344	0.1845:0.1421:0.6734:0.0	6.361	0.20630	757	0.50970	.;.;.;.	.	.	.	.	rs61744227	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.000000	0.001359	0.011696	0.000000	0.000000	0.006098	0.026515	0.08333	1341.83	35	chr5	16676138	.	G	A	1341.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.521;DP=278;ExcessHet=0;FS=2.649;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=1.32;SOR=0.461	GT:AD:DP:GQ:PL	0/1:43,56:99:99:1352,0,975	5	0	1	0
chr5	16701687	16701687	A	G	exonic	MYO10	.	nonsynonymous SNV	MYO10:NM_012334:exon25:c.T2708C:p.M903T	.	424	1053	43	2	0	47	0.02183	.	.	.	721367	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.058	.	0.0067	0.00559105	0.0087	0.0013	0.0033	0	0.0154	0.0095	0.0125	0.0155	0.0083893	1297	154602	rs112696559	0.0090	0.0090	0.0088	0.0092	0.0163	0.0089	0.0088	0.0156	0.0153	0.0011	0.0030	0.0128	0	0.0134	0.0116	0.0089	0.0086	0.0163	0.0069	0.0069	0.0065	0.0073	0.0135	0.0065	0.0064	0.0108	0.0099	0.0019	0	0.0048	0.0135	0.0004	0.0166	0.0068	0.0087	0.0057	0.0135	0.4	0.13610	T	0.554	0.18449	T	0.023	0.18885	B	0.006	0.12133	B	.	.	.	.	0.964229	0.28599	N	0.69	0.16971	N	3.74	0.03951	T	-0.92	0.24676	N	0.378	0.41952	-0.9571	0.39717	T	0.006	0.02168	T	9	0.0068617463	0.00156	T	.	.	.	0.058	0.16647	.	.	0.194818534648	0.19098	0.22097497657065052	0.22012	0.21400552023	0.23928	0.455447763205	0.32688	T	0.021735	0.35061	T	-0.542244	0.00325	T	-0.538047	0.18489	T	0.00228667530795449	0.00024	T	0.79692	0.45144	T	0.126287	0.29583	0.11764603	0.28399	0.126287	0.29583	0.11764603	0.28398	-4.884	0.35555	T	.	.	0.386	0.58768	A	.;.;.;.	.;.;.;.	2.563368	0.33199	19.27	0.81753118547958681	0.13842	0.94846	0.62532	D	AEFBI	0.535976	0.55438	D	-0.555200458049924	0.20321	1.070366	-0.3518589487953	0.26451	1.461131	0.999976648366733	0.50053	0.722319	0.85440	0	0.573888	0.26702	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.0	3.82	0.43153	3.747000	0.54853	3.430000	0.38309	-0.095000	0.16041	1.000000	0.71638	0.989000	0.31174	0.980000	0.58198	0.7044:0.1512:0.0:0.1444	7.293	0.25554	814	0.42100	Unconventional myosin-X, coiled coil domain;Unconventional myosin-X, coiled coil domain;Unconventional myosin-X, coiled coil domain;Unconventional myosin-X, coiled coil domain	.	.	.	.	rs112696559	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010574	0.000000	0.002717	0.011696	0.000000	0.000000	0.009146	0.034091	0.08333	821.83	37	chr5	16701687	.	A	G	821.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.603;DP=263;ExcessHet=0;FS=0.924;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=0.793;SOR=0.513	GT:AD:DP:GQ:PL	0/1:44,33:77:99:832,0,1194	5	0	1	0
chr5	23526995	23526995	A	T	exonic	PRDM9	.	nonsynonymous SNV	PRDM9:NM_001310214:exon11:c.A1907T:p.Y636F,PRDM9:NM_001376900:exon11:c.A1907T:p.Y636F,PRDM9:NM_020227:exon11:c.A1907T:p.Y636F	.	469	1046	6	1	0	8	0.00380952	.	.	.	3547130	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.055	.	0.0068	0.0061901	.	.	.	.	.	.	.	.	0.0005757	89	154602	rs201651766	0.0026	0.0023	0.0025	0.0027	0.0034	0.0025	0.0025	0.0031	0.0030	0.0010	0.0034	0.0016	0	0.0024	0.0015	0.0027	0.0034	0.0034	0.0032	0.0029	0.0032	0.0032	0.0049	0.0029	0.0028	0.0044	0.0042	0.0007	0	0.0031	0.0010	0	0.0016	0	0.0049	0.0061	0.0049	0.228	0.18434	T	0.325	0.18846	T	0.325	0.33132	B	0.584	0.50293	P	0.007729	0.31228	N	0.000000	0.996287	0.23061	N	-0.065	0.04868	N	2.22	0.18248	T	-1.95	0.45222	N	0.195	0.21449	-1.0175	0.24528	T	0.024	0.10194	T	10	0.005525738	0.00122	T	.	.	.	0.055	0.15663	.	.	0.208816687407	0.20498	0.023193010990690148	0.02271	0.506227991766	0.48837	0.414249628782	0.27045	T	0.133044	0.46349	T	-0.628687	0.00097	T	-0.665454	0.07902	T	0.0598448019351359	0.07144	T	0.170983	0.01619	T	0.05393593	0.10277	0.04023637	0.04303	0.05393593	0.10276	0.04023637	0.04302	-8.807	0.66446	D	.	.	0.273	0.50708	B	.	.	1.540645	0.19760	14.42	0.87116539181548169	0.17000	0.02337	0.06683	N	AEFDGI	0.027823	0.02341	N	-0.692574016437774	0.16232	0.8251818	-0.766972881525685	0.15306	0.8043094	0.00805183161945329	0.11601	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.32	1.06	0.19341	-0.845000	0.04448	0.323000	0.17205	-0.115000	0.14600	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.5072:0.0:0.0:0.4928	5.068	0.13928	984	0.02857	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	1	0	.	.	.	.	.	.	.	.	0.08333	784.83	34	chr5	23526995	.	A	T	784.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.319;DP=261;ExcessHet=0;FS=3.106;MLEAC=1;MLEAF=0.083;MQ=36.45;MQRankSum=2.12;QD=10.33;ReadPosRankSum=0.411;SOR=1.151	GT:AD:DP:GQ:PL	0/1:36,40:76:99:795,0,771	5	0	1	0
chr5	33588756	33588756	T	C	exonic	ADAMTS12	.	nonsynonymous SNV	ADAMTS12:NM_001324512:exon16:c.A2453G:p.E818G,ADAMTS12:NM_030955:exon18:c.A2708G:p.E903G	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.0196457831724	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1318158644	2.052e-06	2.052e-06	2.723e-06	1.375e-06	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.34621	T	0.296	0.22828	T	0.169	0.55692	B	0.266	0.48482	B	0.001584	0.38554	N	0.279834	0.679181	0.33217	D	2.465	0.71551	M	0.64	0.52867	T	-2.92	0.61129	D	0.337	0.45331	-0.9145	0.46285	T	0.161	0.49531	T	10	0.27698946	0.45264	T	0.019646	0.42067	T	0.093	0.26882	0.328	0.31196	0.709166840936	0.70663	0.5533789532818482	0.55263	0.577604299883	0.53677	0.456635504961	0.32850	T	0.180604	0.53199	T	-0.0702015	0.41295	T	-0.338616	0.40501	T	0.981699645519257	0.74058	D	0.928807	0.73814	D	0.15113491	0.34372	0.15977189	0.37245	0.15113491	0.34372	0.15977189	0.37244	-11.175	0.82704	D	.	.	0.217	0.52663	B	.;.	.;.	3.479832	0.48587	22.6	0.99846797462970927	0.92663	0.75812	0.37139	D	AEFDGBCI	0.449570	0.50433	N	0.10065278432193	0.46493	2.888797	0.158170722567904	0.47576	2.985818	0.999999684793613	0.74766	0.656854	0.48797	0	0.69481	0.67340	0	0.459711	0.06710	0	0.584449	0.35598	0	.	.	5.98	4.8	0.61157	1.660000	0.37013	6.088000	0.53416	0.609000	0.47794	0.975000	0.34726	1.000000	0.68203	0.686000	0.33718	0.1378:0.0:0.0:0.8622	12.087	0.53001	896	0.25515	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1890.83	36	chr5	33588756	.	T	C	1890.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.113;DP=293;ExcessHet=0;FS=2.73;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.36;ReadPosRankSum=0.185;SOR=0.461	GT:AD:DP:GQ:PL	0/1:35,68:103:99:1901,0,869	5	0	1	0
chr5	54979391	54979393	CTT	-	exonic	ESM1	.	nonframeshift deletion	ESM1:NM_001135604:exon2:c.344_346del:p.E115del,ESM1:NM_007036:exon3:c.494_496del:p.E165del	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	.	9.064e-05	9.61e-05	0	0.0001	0	4.497e-05	0	0.0004	3.84e-05	1	26028	rs576725927	8.963e-05	9.166e-05	7.625e-05	0.0001	0.0007	7.69e-05	7.235e-05	0.0006	0.0005	2.989e-05	0	0	0	0	0.0002	5.217e-05	0.0001	0.0007	5.913e-05	5.906e-05	3.857e-05	8.061e-05	0.0006	3.077e-05	2.21e-05	0.0002	9.007e-05	2.408e-05	0	0.0002	0	0	0	0	2.941e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	529.79	36	chr5	54979390	.	ACTT	A	529.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.768;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.66;ReadPosRankSum=0.312;SOR=0.693	GT:AD:DP:GQ:PL	0/1:16,14:30:99:540,0,630	5	0	1	0
chr5	69414057	69414057	G	A	exonic	RAD17	.	nonsynonymous SNV	RAD17:NM_133339:exon16:c.G1811A:p.R604K,RAD17:NM_133340:exon16:c.G1283A:p.R428K,RAD17:NM_133341:exon16:c.G1520A:p.R507K,RAD17:NM_002873:exon17:c.G1778A:p.R593K,RAD17:NM_133344:exon17:c.G1778A:p.R593K,RAD17:NM_001278622:exon18:c.G1778A:p.R593K,RAD17:NM_133342:exon18:c.G1778A:p.R593K,RAD17:NM_133343:exon18:c.G1778A:p.R593K,RAD17:NM_133338:exon19:c.G1778A:p.R593K	.	430	978	106	8	0	122	0.0587103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	.	0.0072	0.00858626	0.0118	0.0017	0.0041	0.0002	0.0050	0.0086	0.0177	0.0452	0.0109507	1693	154602	rs35440980	0.0098	0.0098	0.0085	0.0111	0.0460	0.0097	0.0096	0.0448	0.0443	0.0012	0.0036	0.0166	5.038e-05	0.0041	0.0303	0.0079	0.0098	0.0460	0.0067	0.0067	0.0058	0.0076	0.0414	0.0063	0.0062	0.0367	0.0349	0.0012	0	0.0067	0.0147	0.0002	0.0042	0.0204	0.0081	0.0047	0.0414	0.986	0.02332	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.08700	B	0.000189	0.48115	D	0.259771	0.994634	0.23476	N	1.535	0.38868	L	2.49	0.19450	T	0.54	0.02945	N	0.032	0.04426	-0.9900	0.32601	T	0.017	0.06855	T	10	0.00218606	0.00032	T	.	.	.	0.066	0.19193	.	.	.	.	0.3029777273072425	0.30210	0.0550484155351	0.06097	0.372454166412	0.21183	T	0.049787	0.28408	T	-0.595955	0.00154	T	-0.595243	0.13214	T	0.0194319635730626	0.00647	T	0.624837	0.24114	T	0.046678767	0.07854	0.035762925	0.02890	0.046678767	0.07854	0.035762925	0.02889	-3.364	0.14669	T	.	.	0.072	0.10883	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.187245	0.27882	17.61	0.75957224569446813	0.11277	0.64842	0.32539	D	AEFDGBI	0.328249	0.42897	N	-0.413733362045308	0.24988	1.353151	-0.239332704839906	0.30141	1.694516	0.99969678773718	0.41870	0.719381	0.83141	0	0.723133	0.82719	0	0.786243	0.99158	0	0.733575	0.97253	0	.	.	5.35	2.09	0.26154	4.382000	0.59360	7.481000	0.59259	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.3362:0.2222:0.4416:0.0	3.033	0.05744	976	0.04745	.;.;.;.;.;.;.;.;.;.;.	CCDC125|RP11-1415C14.3|CCDC125|CCDC125	Artery_Aorta|Brain_Cortex|Skin_Sun_Exposed_Lower_leg|Thyroid	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.032762	0.020408	0.014946	0.040936	0.000000	0.025862	0.036585	0.068182	0.08333	627.83	40	chr5	69414057	.	G	A	627.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.351;DP=252;ExcessHet=0;FS=0.95;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=0.882;SOR=0.881	GT:AD:DP:GQ:PL	0/1:44,26:70:99:638,0,1187	5	0	1	0
chr5	75118147	75118147	C	T	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon17:c.G3856A:p.A1286T,ANKRD31:NM_001372053:exon18:c.G4027A:p.A1343T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0170466889119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.549	0.09522	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.79	0.46772	L	0.2	0.60111	T	-0.84	0.22944	N	0.2	0.22098	-0.9397	0.42664	T	0.156	0.48807	T	7	0.075415164	0.11654	T	0.017047	0.38587	T	0.030	0.07022	0.41	0.44559	0.16115917748	0.15686	0.059974397443567196	0.05937	.	.	0.255921125412	0.04417	T	0.001413	0.00874	T	-0.16856	0.25451	T	-0.479901	0.24457	T	0.102390711655354	0.12618	T	0.70163	0.31127	T	0.029978456	0.02583	0.05316264	0.08901	0.029978456	0.02582	0.05316264	0.08900	-2.696	0.07269	T	.	.	0.069	0.06756	B	.;.	.;.	0.698953	0.10679	7.373	0.95966972190481337	0.28317	0.01759	0.05532	N	AEFI	0.046822	0.07819	N	-0.47004577047244	0.23065	1.236072	-0.603180281463711	0.19411	1.041312	5.72977320847864E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.27	1.24	0.20416	0.071000	0.14461	0.026000	0.13662	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.871000	0.41478	0.1963:0.5195:0.1761:0.108	2.682	0.04781	806	0.43582	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	143.83	85	chr5	75118147	.	C	T	143.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.512;DP=484;ExcessHet=0;FS=63.655;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.45;ReadPosRankSum=-0.325;SOR=6.183	GT:AD:DP:GQ:PL	0/1:78,21:99:99:154,0,1492	5	0	1	0
chr5	76131893	76131893	G	A	exonic	SV2C	.	nonsynonymous SNV	SV2C:NM_001297716:exon2:c.G143A:p.R48Q,SV2C:NM_014979:exon2:c.G143A:p.R48Q	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	.	0.00239617	0.0013	0	0.0003	0	0	0	0.0022	0.0092	0.0011319	175	154602	rs542427646	0.0006	0.0006	0.0003	0.0009	0.0095	0.0006	0.0006	0.0089	0.0087	0	0.0002	0	2.52e-05	0	0.0005	1.259e-05	0.0008	0.0095	0.0003	0.0003	0.0001	0.0005	0.0093	0.0002	0.0002	0.0072	0.0064	0	0	6.54e-05	0	0	0	0	2.94e-05	0	0.0093	0.069	0.35537	T	0.258	0.23707	T	0.202	0.29746	B	0.031	0.21939	B	0.000101	0.51296	N	0.177987	0.999964	0.52935	D	1.24	0.30952	L	1.65	0.27650	T	-0.82	0.22508	N	0.23	0.26717	-1.1031	0.03736	T	0.059	0.24575	T	10	0.0069297254	0.00157	T	.	.	.	0.030	0.07022	0.212	0.13066	0.453401982733	0.44964	0.1875627563254286	0.18674	0.181203500127	0.20376	0.425854414701	0.28642	T	0.016064	0.13351	T	-0.48807	0.00666	T	-0.467032	0.25837	T	0.0413380214556685	0.03934	T	0.962304	0.85835	D	0.09217138	0.21617	0.09825967	0.23419	0.09217138	0.21617	0.09825967	0.23418	-4.083	0.25039	T	.	.	0.103	0.19720	B	.;.	.;.	3.773273	0.54214	23.5	0.9990381183052317	0.97502	0.96508	0.69490	D	AEFBI	0.772772	0.70699	D	0.180573136562934	0.50267	3.218367	0.360720503389932	0.59155	4.091146	0.677023522852958	0.22437	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.76	5.76	0.90726	5.871000	0.69377	8.727000	0.78176	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.1449:0.0:0.8551:0.0	10.388	0.43335	824	0.40336	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1049.83	33	chr5	76131893	.	G	A	1049.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.04;DP=266;ExcessHet=0;FS=0.774;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=0.022;SOR=0.821	GT:AD:DP:GQ:PL	0/1:56,41:97:99:1060,0,1354	5	0	1	0
chr5	90506565	90506565	A	T	exonic	POLR3G	.	nonsynonymous SNV	POLR3G:NM_001370351:exon7:c.A476T:p.E159V,POLR3G:NM_001370352:exon7:c.A473T:p.E158V,POLR3G:NM_001370353:exon7:c.A473T:p.E158V,POLR3G:NM_001370354:exon7:c.A476T:p.E159V,POLR3G:NM_006467:exon7:c.A476T:p.E159V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00656997879315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.314e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.006	0.70582	D	0.999	0.77913	D	0.995	0.83170	D	0.000300	0.46274	D	0.147080	0.99651	0.43249	D	2.495	0.72670	M	.	.	.	-2.67	0.57110	D	0.395	0.43610	-0.3951	0.72181	T	0.328	0.69572	T	9	0.22701609	0.39570	T	0.00657	0.17329	T	0.094	0.27141	0.156	0.05964	0.559387959211	0.55600	.	.	0.085804670794	0.09698	0.603498339653	0.53398	T	0.048963	0.38943	T	0.0192445	0.54279	T	-0.210133	0.53683	T	0.903496980667114	0.55672	D	0.819018	0.50404	T	0.18516532	0.39866	0.22599459	0.47562	0.18516532	0.39866	0.22599459	0.47561	-6.239	0.48237	T	.	.	0.261	0.49922	B	.;.;.	.;.;.	3.726142	0.53274	23.3	0.98479360837283281	0.41954	0.79156	0.39171	D	AEFBI	0.442485	0.50019	N	0.597172251384416	0.72999	5.89474	0.537402490844097	0.70526	5.518134	0.366327516862863	0.19826	0.706298	0.61202	0	0.709663	0.81188	0	0.643519	0.47002	0	0.564101	0.26826	0	.	.	4.28	4.28	0.50183	3.361000	0.52028	11.085000	0.85821	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	10.002	0.41105	850	0.35610	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	219.83	33	chr5	90506565	.	A	T	219.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.399;DP=235;ExcessHet=0;FS=1.345;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.23;ReadPosRankSum=0.279;SOR=0.939	GT:AD:DP:GQ:PL	0/1:30,12:42:99:230,0,778	5	0	1	0
chr5	102270770	102270770	G	A	exonic	SLCO4C1	.	nonsynonymous SNV	SLCO4C1:NM_180991:exon3:c.C656T:p.T219I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0115028280006	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175652348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.32e-05	1.315e-05	1.289e-05	1.352e-05	1.472e-05	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.472e-05	0.0005	0	0.142	0.25457	T	0.256	0.23298	T	0.038	0.21002	B	0.103	0.30945	B	0.114133	0.02666	N	1.718550	1	0.08975	N	1.27	0.32069	L	1.09	0.39223	T	-2.68	0.57275	D	0.157	0.16308	-1.0216	0.23195	T	0.093	0.35336	T	10	0.06457871	0.08585	T	0.011503	0.29187	T	0.013	0.01715	0.505	0.59924	0.104622674875	0.10061	0.2586394306084872	0.25777	0.0495080261756	0.05423	0.311373412609	0.12114	T	0.040704	0.25615	T	-0.240781	0.15248	T	-0.583642	0.14221	T	0.113470774417171	0.13780	T	0.229177	0.03066	T	0.07753631	0.17604	0.073808745	0.16079	0.07753631	0.17604	0.073808745	0.16078	-4.183	0.26505	T	.	.	0.078	0.06663	B	.	.	0.696501	0.10651	7.351	0.97305176174551633	0.33299	0.03945	0.09343	N	AEFBI	0.071942	0.14339	N	-1.05011044505534	0.07585	0.3528671	-1.09197903977378	0.07857	0.3839092	0.0203658458362758	0.13251	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.72	-1.11	0.09336	-0.445000	0.06918	-0.879000	0.07072	-0.667000	0.04321	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.1348:0.1105:0.3048:0.4499	2.952	0.05506	344	0.85734	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	252.91	14	chr5	102270770	.	G	A	252.91	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.108;DP=242;ExcessHet=0.4139;FS=50.558;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=2.69;ReadPosRankSum=1.63;SOR=5.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,11:45:99:0|1:102270770_G_A:171,0,1051:102270770	4	0	1	1
chr5	102270771	102270771	T	C	exonic	SLCO4C1	.	nonsynonymous SNV	SLCO4C1:NM_180991:exon3:c.A655G:p.T219A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00737551040094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.667e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.951	0.02141	T	0.765	0.04555	T	0.001	0.07471	B	0.008	0.13708	B	0.114133	0.02666	N	1.718550	1	0.08975	N	0.195	0.09149	N	1.2	0.37405	T	-0.41	0.14000	N	0.126	0.11912	-1.0613	0.11434	T	0.060	0.24981	T	10	0.033189237	0.01488	T	0.007376	0.19576	T	0.035	0.08770	0.398	0.42590	0.0954503805726	0.09146	0.173178965912641	0.17237	0.04234262313	0.04565	0.265042543411	0.05506	T	0.005402	0.04851	T	-0.294574	0.09181	T	-0.660912	0.08205	T	0.0230593997985125	0.01031	T	0.171083	0.01625	T	0.031705566	0.03059	0.026906235	0.00808	0.031705566	0.03059	0.026906235	0.00808	-3.985	0.23578	T	.	.	0.063	0.01512	B	.	.	-0.611083	0.01542	0.100	0.21569347130836103	0.00828	0.05116	0.10920	N	AEFBI	0.081174	0.16422	N	-1.05674882497369	0.07456	0.3464054	-1.03940957767455	0.08928	0.4414944	0.0182638168567323	0.13039	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.72	0.664	0.17060	-0.710000	0.05127	-0.485000	0.08896	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.065000	0.16320	0.1385:0.3532:0.0:0.5083	4.822	0.12759	344	0.85734	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	257.06	26	chr5	102270771	.	T	C	257.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.444;DP=252;ExcessHet=0.4139;FS=50.558;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=2.73;ReadPosRankSum=1.55;SOR=5.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,11:45:99:0|1:102270770_G_A:171,0,1051:102270770	4	0	2	0
chr5	110420591	110420591	C	A	exonic	TMEM232	.	stopgain	TMEM232:NM_001039763:exon14:c.G1963T:p.E655X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs192501577	4.357e-05	4.241e-05	4.516e-05	4.192e-05	0.0017	3.404e-05	3.109e-05	0.0013	0.0012	0.0017	6.076e-05	0	0	0	0.0006	1.899e-06	0.0001	0	0.0005	0.0005	0.0005	0.0004	0.0017	0.0004	0.0004	0.0013	0.0012	0.0017	0	0.0003	0	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.029	0.00666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0586486	0.59444	T	0.270935	0.86623	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.047791	0.94431	34	0.96965392429409991	0.31795	0.06871	0.12896	N	AEFI	0.095167	0.19232	N	0.286411964747642	0.55457	3.709966	-0.0761586613948636	0.36379	2.116315	6.9517037503467E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.31	3.41	0.38145	0.408000	0.20787	0.167000	0.15474	0.531000	0.24825	0.007000	0.17678	0.000000	0.08366	0.008000	0.08271	0.0:0.6255:0.3745:0.0	10.791	0.45633	693	0.58582	.	.	.	.	.	.	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	0.004399	0.006494	0.000000	0.009524	0.000000	0.000000	0.000000	0.000000	0.08333	603.83	34	chr5	110420591	.	C	A	603.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.866;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=0.779;SOR=0.566	GT:AD:DP:GQ:PL	0/1:22,25:47:99:614,0,539	5	0	1	0
chr5	110420660	110420660	C	G	exonic	TMEM232	.	nonsynonymous SNV	TMEM232:NM_001039763:exon14:c.G1894C:p.E632Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.0153118387273	.	0.000399361	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs182807123	4.513e-05	4.309e-05	4.884e-05	4.131e-05	0.0015	3.592e-05	3.261e-05	0.0012	0.0011	0.0015	5.944e-05	0	0	0	0.0005	1.859e-06	0.0001	0	0.0005	0.0005	0.0005	0.0004	0.0017	0.0004	0.0004	0.0014	0.0013	0.0017	0	0.0003	0	0	0	0	0	0.0005	0	0.017	0.51248	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	1	0.81001	D	0.975	0.24501	L	.	.	.	-1.29	0.32387	N	0.144	0.14480	-0.6844	0.61169	T	0.270	0.64151	T	7	0.07198173	0.10683	T	0.015312	0.35967	T	0.235	0.53788	.	.	0.0551355673512	0.04727	0.04678549214909194	0.04621	.	.	0.4481793046	0.31695	T	0.003748	0.03161	T	-0.322181	0.06721	T	-0.2761	0.47202	T	0.114788484948717	0.13913	T	0.593841	0.21938	T	0.14854588	0.33909	0.14832129	0.35065	0.14854588	0.33908	0.14832129	0.35064	-4.861	0.35294	T	.	.	0.192	0.41094	B	.	.	2.653237	0.34548	19.66	0.99723066720211961	0.82195	0.88181	0.47996	D	AEFI	0.411986	0.48224	N	0.340966321350854	0.58265	3.99768	0.300252242906117	0.55555	3.718425	0.237085411986417	0.18530	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.7	4.7	0.58776	2.353000	0.43744	2.564000	0.33329	0.549000	0.26987	0.955000	0.33325	0.991000	0.31484	0.272000	0.23818	0.0:1.0:0.0:0.0	15.499	0.75414	693	0.58582	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002793	0.000000	0.000000	0.009346	0.000000	0.000000	0.000000	0.000000	0.08333	896.83	34	chr5	110420660	.	C	G	896.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.707;DP=254;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=-1.45;SOR=0.682	GT:AD:DP:GQ:PL	0/1:34,38:72:99:907,0,824	5	0	1	0
chr5	112165054	112165054	G	A	exonic	EPB41L4A	.	nonsynonymous SNV	EPB41L4A:NM_022140:exon23:c.C1997T:p.A666V	.	.	.	.	.	.	.	.	.	.	.	698722	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.203	.	0.0030	0.00539137	0.0010	0.0107	0.0007	0	0	3.001e-05	0	6.058e-05	0.0009961	154	154602	rs1551935	0.0003	0.0003	0.0004	0.0003	0.0105	0.0003	0.0003	0.0096	0.0092	0.0105	0.0012	0	0	1.872e-05	0.0007	2.878e-05	0.0010	6.957e-05	0.0030	0.0030	0.0029	0.0031	0.0104	0.0028	0.0027	0.0096	0.0093	0.0104	0	0.0014	0	0.0002	0	0	4.411e-05	0.0009	0	0.164	0.23360	T	0.229	0.25210	T	0.308	0.32740	B	0.043	0.24256	B	0.005113	0.33089	U	0.121379	0.600631	0.30943	N	0.55	0.14455	N	-1.63	0.82440	D	-0.16	0.09460	N	0.055	0.03069	-0.7710	0.56803	T	0.165	0.50291	T	10	0.0050605834	0.00109	T	.	.	.	0.203	0.48915	.	.	0.659250127719	0.65639	0.3389945321556822	0.33812	0.041598538369	0.04473	0.331317812204	0.15133	T	0.006273	0.05707	T	-0.470628	0.00842	T	-0.44084	0.28714	T	0.0105749154119011	0.00147	T	0.657934	0.26722	T	0.028262842	0.02137	0.05698734	0.10279	0.03210222	0.03173	0.053875342	0.09157	-3.763	0.20253	T	.	.	0.077	0.07272	B	.;.	.;.	2.720073	0.35575	19.93	0.95932287934865446	0.28219	0.72675	0.35564	D	AEFDBHCI	0.120425	0.23460	N	-0.532537978473159	0.21034	1.113353	-0.403376051817614	0.24897	1.366036	0.999995942141423	0.74766	0.460665	0.09802	0	0.379588	0.06130	0	0.575934	0.27490	0	0.636168	0.56350	0	.	.	5.31	2.11	0.26299	1.925000	0.39705	5.428000	0.48585	-0.117000	0.14459	0.998000	0.41325	1.000000	0.68203	0.585000	0.31016	0.1929:0.0:0.5476:0.2595	4.185	0.09854	264	0.89640	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.005435	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	542.83	33	chr5	112165054	.	G	A	542.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.032;DP=245;ExcessHet=0;FS=3.765;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=-1.303;SOR=0.745	GT:AD:DP:GQ:PL	0/1:31,25:56:99:553,0,724	5	0	1	0
chr5	119133212	119133212	A	C	exonic	DMXL1	.	nonsynonymous SNV	DMXL1:NM_001290321:exon11:c.A1396C:p.S466R,DMXL1:NM_001290322:exon11:c.A877C:p.S293R,DMXL1:NM_005509:exon11:c.A1396C:p.S466R,DMXL1:NM_001349239:exon12:c.A1396C:p.S466R,DMXL1:NM_001349240:exon12:c.A1396C:p.S466R	.	427	1067	28	0	0	28	0.012951	.	.	.	698741	DMXL1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.085	.	0.0031	0.00798722	0.0066	0.0007	0.0017	0	0.0068	0.0061	0.0088	0.0189	0.0060866	941	154602	rs142000355	0.0046	0.0046	0.0042	0.0050	0.0187	0.0045	0.0045	0.0179	0.0176	0.0009	0.0025	0.0169	5.039e-05	0.0055	0.0094	0.0034	0.0061	0.0187	0.0039	0.0039	0.0037	0.0041	0.0193	0.0037	0.0035	0.0161	0.0149	0.0006	0.0033	0.0034	0.0164	0	0.0048	0.0034	0.0045	0.0047	0.0193	0.078	0.33923	T	0.204	0.27235	T	0.019	0.36941	B	0.02	0.34536	B	0.003207	0.35270	N	0.354726	0.839989	0.35051	D	1.965	0.53209	M	0.84	0.47477	T	-2.2	0.49519	N	0.405	0.58968	-1.0226	0.22866	T	0.054	0.22997	T	10	0.0034649074	0.00061	T	.	.	.	0.085	0.24743	0.211	0.12923	0.316918214084	0.31302	0.26826068777558765	0.26739	0.0836088970448	0.09429	0.356339156628	0.18851	T	0.066931	0.33072	T	-0.442592	0.01249	T	-0.393592	0.34132	T	0.0104915088462671	0.00145	T	0.808019	0.46271	T	0.07245605	0.16118	0.08032456	0.18162	0.07245605	0.16118	0.08032456	0.18161	-6.054	0.46728	T	.	.	0.201	0.47557	B	.;.;.	.;.;.	2.234974	0.28534	17.83	0.95959325265076945	0.28295	0.43055	0.27014	N	AEFGBI	0.178236	0.30549	N	-0.44553844061359	0.23892	1.286213	-0.369960080323475	0.25897	1.42706	0.0185162500457033	0.13067	0.732398	0.92422	0	0.724815	0.89359	0	0.696353	0.63694	0	0.727631	0.95156	0	.	.	5.32	4.18	0.48473	0.514000	0.22492	2.835000	0.35045	0.691000	0.84096	0.632000	0.28016	1.000000	0.68203	0.100000	0.18284	0.7225:0.166:0.1115:0.0	5.926	0.18350	885	0.28214	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011078	0.005051	0.008152	0.011696	0.050000	0.000000	0.018293	0.011364	0.08333	1139.83	35	chr5	119133212	.	A	C	1139.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.423;DP=288;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=-1.741;SOR=0.646	GT:AD:DP:GQ:PL	0/1:65,50:115:99:1150,0,1777	5	0	1	0
chr5	129461644	129461644	G	T	exonic	ADAMTS19	.	nonsynonymous SNV	ADAMTS19:NM_133638:exon2:c.G634T:p.A212S	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0125008544861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.034e-07	2.744e-06	1.398e-06	0	9.118e-07	0	0	.	.	0	0	0	0	0	0	9.118e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.07471	B	0.002	0.06944	B	0.079755	0.20965	N	0.374327	1	0.08975	N	0.14	0.08730	N	.	.	.	.	.	.	.	.	-0.9276	0.44487	T	0.008	0.02720	T	9	0.08687705	0.14811	T	0.012501	0.31128	T	0.028	0.06331	0.383	0.40134	0.0934897674506	0.08844	0.39047932096020577	0.38962	0.154927396393	0.17493	0.750962376595	0.74589	T	0.003798	0.03212	T	-0.287672	0.09871	T	-0.650998	0.08885	T	0.0606695876405981	0.07274	T	0.466753	0.13720	T	0.07335072	0.16383	0.084429204	0.19421	0.07335072	0.16383	0.084429204	0.19421	-3.785	0.20581	T	.	.	0.077	0.06295	B	.;.	.;.	1.404487	0.18190	13.60	0.95283363298330792	0.26580	0.13608	0.17952	N	AEFDBHCI	0.083997	0.17021	N	-0.811300195711665	0.13020	0.6386113	-0.743729426909182	0.15876	0.8371752	0.999999999952218	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.504199	0.09095	0	0.603991	0.37454	0	.	.	3.96	3.04	0.34171	1.192000	0.31759	2.377000	0.32464	0.618000	0.50648	0.003000	0.16062	0.413000	0.24769	0.983000	0.59808	0.0925:0.1605:0.5818:0.1652	4.074	0.09374	721	0.55360	Peptidase M12B, propeptide;Peptidase M12B, propeptide	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	894.83	37	chr5	129461644	.	G	T	894.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.127;DP=233;ExcessHet=0;FS=2.4;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.57;ReadPosRankSum=-0.702;SOR=0.409	GT:AD:DP:GQ:PL	0/1:21,33:54:99:905,0,480	5	0	1	0
chr5	133199528	133199528	C	T	exonic	FSTL4	.	nonsynonymous SNV	FSTL4:NM_015082:exon16:c.G2096A:p.R699H	.	433	1084	5	0	0	5	0.00230097	.	.	.	3261429	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.043	0.0199273292012	.	0.000199681	4.947e-05	0	8.642e-05	0	0	2.999e-05	0	0.0002	5.82e-05	9	154602	rs149501035	7.936e-05	7.935e-05	8.032e-05	7.839e-05	0.0005	6.734e-05	6.267e-05	0.0003	0.0002	2.987e-05	6.708e-05	0	0	1.872e-05	0.0005	5.666e-05	0.0002	0.0004	9.191e-05	9.186e-05	8.991e-05	9.4e-05	0.0001	5.523e-05	4.361e-05	7.909e-05	5.994e-05	7.217e-05	0	6.533e-05	0	0	0	0	0.0001	0	0	0.464	0.08634	T	0.85	0.04652	T	0.137	0.27402	B	0.028	0.21332	B	0.000012	0.62929	D	0.115488	0.999443	0.47080	D	1.685	0.43254	L	1.43	0.32958	T	-1.2	0.30555	N	0.152	0.17002	-1.0880	0.05873	T	0.044	0.18989	T	10	0.06187427	0.07825	T	0.019927	0.42414	T	0.043	0.11576	0.416	0.45544	0.366868811517	0.36303	0.7556647769961369	0.75513	0.334390914649	0.35456	0.373634874821	0.21352	T	0.169895	0.51745	T	-0.46528	0.00911	T	-0.609927	0.11990	T	0.0661987488345847	0.08108	T	0.833717	0.50261	T	0.040914547	0.05928	0.046751928	0.06584	0.040914547	0.05928	0.046751928	0.06583	-8.958	0.67426	D	.	.	0.088	0.24599	B	.;.	.;.	2.612258	0.33929	19.48	0.93342916342424265	0.23073	0.87335	0.46843	D	AEFDBI	0.288172	0.40013	N	-0.330894441765914	0.27980	1.539561	-0.23577858084838	0.30265	1.702529	0.694834552877013	0.22629	0.614807	0.35715	0	0.59043	0.45803	0	0.616094	0.41390	0	0.542086	0.14980	0	.	.	4.74	2.55	0.29757	3.840000	0.55547	1.789000	0.28782	-0.249000	0.07183	1.000000	0.71638	1.000000	0.68203	0.383000	0.26402	0.0:0.727:0.0:0.273	9.001	0.35245	868	0.31772	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.008621	0.000000	0.000000	0.08333	1578.83	37	chr5	133199528	.	C	T	1578.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.84;DP=283;ExcessHet=0;FS=1.625;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.63;ReadPosRankSum=0.103;SOR=0.489	GT:AD:DP:GQ:PL	0/1:45,56:101:99:1589,0,1087	5	0	1	0
chr5	134723571	134723571	A	G	exonic	SEC24A	.	nonsynonymous SNV	SEC24A:NM_021982:exon22:c.A3068G:p.D1023G	.	437	1080	5	0	0	5	0.00230947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00746623690938	0.0005	.	0.0006	0.0002	0.0016	0	0	0.0007	0.0022	0.0004	0.0006404	99	154602	rs201973255	0.0006	0.0006	0.0006	0.0006	0.0061	0.0006	0.0006	0.0045	0.0039	0.0007	0.0016	0.0008	2.526e-05	1.873e-05	0.0061	0.0006	0.0010	0.0004	0.0007	0.0007	0.0006	0.0007	0.0016	0.0006	0.0005	0.0011	0.0009	0.0001	0	0.0016	0.0009	0	0.0002	0.0204	0.0008	0.0024	0	0.529	0.07048	T	0.427	0.13832	T	0.0	0.02946	B	0.0	0.01387	B	0.020216	0.27088	N	0.434279	0.609304	0.30874	N	0.205	0.09354	N	0.69	0.51714	T	-2.96	0.61722	D	0.171	0.18239	-1.0910	0.05367	T	0.073	0.29610	T	10	0.0285514	0.00986	T	0.007466	0.19819	T	0.076	0.22200	.	.	0.647120189699	0.64419	0.39957650763977054	0.39872	0.131509701169	0.14829	0.313902020454	0.12497	T	0.064658	0.32490	T	-0.484748	0.00695	T	-0.493711	0.23001	T	0.0374169316064053	0.03229	T	0.267173	0.04416	T	0.2732578	0.50394	0.13915645	0.33212	0.2732578	0.50394	0.13915645	0.33211	-5.864	0.45127	T	.	.	0.106	0.19800	B	.	.	2.810180	0.36988	20.4	0.88853576514188559	0.18309	0.96967	0.71926	D	AEFBI	0.563984	0.57095	D	-0.288479344159725	0.29593	1.642421	-0.0719228160774764	0.36557	2.128936	0.971252426262951	0.29272	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.66	4.5	0.54382	4.713000	0.61585	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.931:0.0:0.069:0.0	11.786	0.51314	643	0.63827	Gelsolin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.040404	0.010870	0.002924	0.000000	0.008621	0.009146	0.000000	0.08333	456.83	35	chr5	134723571	.	A	G	456.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.328;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.52;ReadPosRankSum=-1.373;SOR=0.644	GT:AD:DP:GQ:PL	0/1:27,21:48:99:467,0,639	5	0	1	0
chr5	135852723	135852723	T	G	exonic	SLC25A48	.	nonsynonymous SNV	SLC25A48:NM_001349336:exon4:c.T323G:p.L108R,SLC25A48:NM_145282:exon4:c.T323G:p.L108R,SLC25A48:NM_001349335:exon7:c.T161G:p.L54R,SLC25A48:NM_001349345:exon7:c.T161G:p.L54R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.820	0.337950056871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.72154	D	0.011	0.64786	D	1.0	0.90584	D	0.977	0.73820	D	0.005986	0.32354	N	0.243986	0.99968	0.81001	D	3.185	0.88900	M	-1.56	0.81815	D	-4.82	0.80851	D	0.908	0.90932	0.518	0.90800	D	0.695	0.89481	D	10	0.9325839	0.92594	D	0.33795	0.91935	D	0.820	0.94238	0.798	0.91802	0.813806034475	0.81205	0.8337855282016602	0.83337	1.1253508901	0.78435	0.632679462433	0.57526	T	0.485422	0.81233	T	0.372471	0.88221	D	0.297253	0.88071	D	0.987305760383606	0.77827	D	0.868113	0.56980	D	0.8532063	0.87573	0.8169519	0.89343	0.8532063	0.87575	0.8169519	0.89344	-12.191	0.85769	D	.	.	0.304	0.59511	B	.;.;.;.;.;.	.;.;.;.;.;.	4.490417	0.70135	25.5	0.99695695636004744	0.80248	0.95469	0.64845	D	AEFBI	0.688620	0.64956	D	0.483175072449066	0.66107	4.907644	0.401656934528582	0.61669	4.370187	0.0726296138773557	0.15607	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	4.175000	0.58057	6.061000	0.53172	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.403000	0.26849	0.0:0.0:0.0:1.0	14.858	0.69994	757	0.50970	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1346.83	34	chr5	135852723	.	T	G	1346.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.22;DP=311;ExcessHet=0;FS=0.729;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=-1.387;SOR=0.828	GT:AD:DP:GQ:PL	0/1:59,53:112:99:1357,0,1470	5	0	1	0
chr5	139887481	139887481	C	T	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G731A:p.S244N,NRG2:NM_004883:exon2:c.G731A:p.S244N,NRG2:NM_013981:exon2:c.G731A:p.S244N,NRG2:NM_013982:exon2:c.G731A:p.S244N,NRG2:NM_013983:exon2:c.G731A:p.S244N	.	.	.	.	.	.	.	.	.	.	.	2325350	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.031	0.00739077046255	.	.	8.286e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs774596341	1.371e-06	1.369e-06	1.365e-06	1.378e-06	1.804e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.804e-06	0	0	6.59e-06	6.574e-06	0	1.35e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.184	0.23360	T	0.164	0.31026	T	0.087	0.26037	B	0.062	0.30857	B	0.000522	0.43581	N	0.227934	0.755028	0.33972	D	0.135	0.08676	N	1.58	0.29085	T	-0.32	0.21003	N	0.423	0.46274	-1.0194	0.23910	T	0.045	0.19518	T	10	0.22371674	0.39157	T	0.007391	0.19603	T	0.031	0.07369	0.366	0.37361	0.498748557451	0.49510	0.4556412808571356	0.45482	0.884494878246	0.69920	0.694656133652	0.66374	T	0.195255	0.55127	T	-0.302609	0.08415	T	-0.672453	0.07451	T	0.361964405132886	0.27486	T	0.79652	0.44558	T	0.08836372	0.20609	0.102840796	0.24660	0.08836372	0.20609	0.102840796	0.24659	-7.518	0.70016	D	.	.	0.221	0.45409	B	.;.;.;.;.;.	.;.;.;.;.;.	3.573511	0.50344	22.9	0.99603636505572957	0.74338	0.69576	0.34242	D	AEFBI	0.254283	0.37363	N	-0.162749740398921	0.34693	1.983396	0.0478054099699094	0.41967	2.53021	0.600115135775481	0.21718	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	5.29	0.74430	2.879000	0.48220	5.991000	0.52331	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.9072:0.0:0.0928	10.020	0.41207	21	0.98493	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	234.78	97	chr5	139887481	.	C	T	234.78	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-3.973;DP=517;ExcessHet=0.4139;FS=308.668;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=1.18;ReadPosRankSum=2.97;SOR=7.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,28:97:99:0|1:139887481_C_T:202,0,2128:139887481	3	0	2	1
chr5	140877285	140877285	G	T	exonic	PCDHA12	.	nonsynonymous SNV	PCDHA12:NM_018903:exon1:c.G1813T:p.A605S,PCDHA12:NM_031864:exon1:c.G1813T:p.A605S	.	417	1073	31	1	0	33	0.0151446	.	.	.	2825288	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.276	0.0197981711577	0.0036	0.00279553	0.0040	0.0006	0.0010	0.0001	0.0020	0.0054	0.0033	0.0055	0.0041073	635	154602	rs76220347	0.0047	0.0047	0.0045	0.0049	0.0073	0.0046	0.0046	0.0056	0.0049	0.0007	0.0018	0.0087	2.519e-05	0.0016	0.0073	0.0051	0.0043	0.0054	0.0036	0.0036	0.0038	0.0034	0.0057	0.0033	0.0032	0.0052	0.0051	0.0006	0	0.0035	0.0086	0	0.0019	0.0034	0.0057	0.0033	0.0041	0.028	0.46129	D	0.052	0.47581	T	1.0	0.90584	D	0.954	0.78396	D	.	.	.	.	1	0.81001	D	1.64	0.41913	L	1.18	0.37746	T	-2.72	0.57920	D	0.213	0.25989	-0.7210	0.59414	T	0.168	0.50794	T	9	0.012135804	0.00262	T	0.019798	0.42253	T	0.276	0.59253	.	.	0.734974895143	0.73260	0.2244262043726725	0.22357	.	.	0.780401825905	0.78988	T	0.077468	0.35662	T	-0.437357	0.01340	T	-0.39909	0.33490	T	0.0216165376161506	0.00866	T	0.855914	0.55285	D	0.23279963	0.46074	0.28168145	0.54151	0.23279963	0.46074	0.28168145	0.54150	-9.022	0.69146	D	.	.	0.160	0.35310	B	.;.	.;.	3.454221	0.48119	22.6	0.99504588519091897	0.68264	0.97990	0.78686	D	AEFDBI	0.708097	0.66262	D	0.558929894263973	0.70627	5.529476	0.493415732069027	0.67551	5.099412	0.999999998772093	0.74766	0.475244	0.09938	2	0.588015	0.36545	0	0.641878	0.46077	1	0.562822	0.20929	0	.	.	4.71	4.71	0.59010	3.147000	0.50335	.	.	0.590000	0.31872	0.998000	0.41325	0.003000	0.18671	0.787000	0.37188	0.0:0.0:1.0:0.0	17.27	0.86984	67	0.97183	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009063	0.000000	0.010870	0.002924	0.000000	0.000000	0.015244	0.018939	0.08333	2732.83	44	chr5	140877285	.	G	T	2732.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.47;DP=413;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=0.249;SOR=0.673	GT:AD:DP:GQ:PL	0/1:108,94:202:99:2743,0,2778	5	0	1	0
chr5	141201807	141201807	C	A	exonic	PCDHB11	.	nonsynonymous SNV	PCDHB11:NM_018931:exon1:c.C2033A:p.P678Q	.	168	1321	32	1	0	34	0.0127055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	0.0027	0.00399361	0.0039	0.0004	0.0004	0.0001	0.0027	0.0040	0.0067	0.0097	0.0035381	547	154602	rs141800205	0.0040	0.0039	0.0036	0.0043	0.0102	0.0039	0.0038	0.0096	0.0094	0.0003	0.0016	0.0069	0	0.0020	0.0085	0.0038	0.0036	0.0102	0.0033	0.0033	0.0031	0.0036	0.0087	0.0031	0.0030	0.0066	0.0059	0.0005	0	0.0039	0.0078	0	0.0024	0.0102	0.0047	0.0014	0.0087	0.201	0.20306	T	0.207	0.35840	T	0.013	0.16609	B	0.02	0.19048	B	.	.	.	.	1	0.08975	N	1.02	0.25474	L	0.8	0.48769	T	-3.23	0.65056	D	0.087	0.11769	-0.9282	0.44400	T	0.088	0.34078	T	9	0.0062874258	0.00142	T	.	.	.	0.056	0.15993	.	.	0.424430313326	0.42057	0.21207624426873645	0.21123	0.218745738451	0.24414	0.432624101639	0.29567	T	0.027678	0.20215	T	-0.618637	0.00112	T	-0.652011	0.08814	T	0.00542685166688873	0.00059	T	0.467153	0.14032	T	0.035338838	0.04141	0.072137386	0.15528	0.035338838	0.04141	0.072137386	0.15528	-9.301	0.70254	D	.	.	0.078	0.08368	B	.;.	.;.	1.146609	0.15341	11.78	0.54837505654297913	0.05218	0.01440	0.04836	N	AEFDI	0.031168	0.03277	N	-1.00260200278716	0.08550	0.401287	-1.15715369112361	0.06640	0.3203102	0.00276586595352238	0.09691	0.490419	0.18000	1	0.573888	0.26702	0	0.667716	0.60424	0	0.613276	0.41899	0	.	.	2.77	-2.14	0.06725	-1.779000	0.01874	.	.	0.299000	0.18918	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.4176:0.2069:0.1464:0.229	0.535	0.00593	662	0.61715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005495	0.000000	0.004076	0.004202	0.000000	0.000000	0.013072	0.007937	0.08333	1142.83	92	chr5	141201807	.	C	A	1142.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.991;DP=376;ExcessHet=0;FS=6.614;MLEAC=1;MLEAF=0.083;MQ=59.85;MQRankSum=0.922;QD=11.9;ReadPosRankSum=-0.188;SOR=0.388	GT:AD:DP:GQ:PL	0/1:53,43:96:99:1153,0,1419	5	0	1	0
chr5	141303079	141303079	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787C:p.V263L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.00909780768334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.611e-06	0.0012	9.648e-06	5.557e-06	9.117e-06	4.08e-06	2.99e-06	4.61e-06	3.36e-06	0	0	3.841e-05	0	0	0	9.117e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.865	0.02639	T	0.669	0.06325	T	0.0	0.02946	B	0.001	0.04355	B	0.940851	0.07593	N	1.028430	0.99999	0.08975	N	-1.395	0.00601	N	-1.1	0.77336	T	0.91	0.01595	N	0.015	0.00181	-1.0189	0.24074	T	0.099	0.36957	T	10	0.04655108	0.03861	T	0.009098	0.23941	T	0.146	0.38789	0.353	0.35246	0.307966526162	0.30417	0.15140888837097558	0.15062	0.179086514007	0.20148	0.295074403286	0.09668	T	0.158211	0.50113	T	-0.262078	0.12658	T	-0.614233	0.11644	T	0.0472256252312583	0.05005	T	0.090191	0.00668	T	0.05519885	0.10696	0.03909303	0.03923	0.05519885	0.10696	0.03909303	0.03923	-0.632	0.00670	T	.	.	0.081	0.08129	B	.	.	0.911050	0.12853	9.367	0.29972271365944797	0.01616	0.36561	0.25561	N	AEFDBI	0.079883	0.16143	N	-1.27563492994376	0.03971	0.1783734	-1.17336112797431	0.06358	0.3057852	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	1385.96	33	chr5	141303079	.	C	G	1385.96	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-4.635;DP=802;ExcessHet=3.1439;FS=217.575;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=1.14;SOR=9.94	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,23:126:99:0|1:141303079_C_G:161,0,3948:141303079	4	0	2	0
chr5	141303081	141303081	A	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.T785C:p.I262T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.0473896448522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.057e-05	0.0052	9.083e-05	7.061e-05	9.408e-05	6.666e-05	6.17e-05	7.637e-05	7.056e-05	7.663e-05	2.352e-05	9.167e-05	0	0	0	9.408e-05	0.0001	3.753e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.012	0.63918	D	0.031	0.20130	B	0.072	0.28043	B	0.002026	0.37411	N	0.228449	0.664955	0.33087	D	2.495	0.72670	M	-1.43	0.80730	T	-3.37	0.66665	D	0.15	0.15328	-0.2969	0.75071	T	0.436	0.77580	T	10	0.32646608	0.49943	T	0.04739	0.62897	D	0.304	0.62510	0.714	0.84962	0.796736975761	0.79484	0.3777484127299112	0.37689	0.256540601776	0.28227	0.559880197048	0.47250	T	0.479583	0.80893	T	-0.0449841	0.45207	T	-0.302393	0.44473	T	0.91609662771225	0.57338	D	0.873613	0.58243	D	0.3416271	0.56408	0.3380717	0.59590	0.3416271	0.56408	0.3380717	0.59589	-5.782	0.44417	T	.	.	0.170	0.37388	B	.	.	3.362138	0.46425	22.3	0.97252123840185223	0.33047	0.90378	0.51506	D	AEFDBI	0.134760	0.25488	N	-0.253584900046592	0.30961	1.73137	-0.254588989580657	0.29613	1.660522	0.0034441891907943	0.10119	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	1.42	0.21524	2.856000	0.48040	.	.	0.751000	0.87719	0.966000	0.33990	0.265000	0.24010	0.967000	0.53440	0.789:0.0:0.211:0.0	6.656	0.22177	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3	861.73	33	chr5	141303081	.	A	G	861.73	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-2.225;DP=788;ExcessHet=1.383;FS=172.154;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=1.94;ReadPosRankSum=1.59;SOR=9.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,23:126:99:0|1:141303079_C_G:161,0,3948:141303079	2	0	3	1
chr5	141303085	141303085	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G781C:p.G261R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.945	0.119171460993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	U	0.000000	1	0.81001	D	4.05	0.97045	H	-4.47	0.97583	D	-7.81	0.95950	D	0.92	0.92317	1.064	0.98437	D	0.966	0.98903	D	10	0.9785469	0.97736	D	0.119171	0.79941	D	0.945	0.98886	0.826	0.93721	0.991982707548	0.99189	0.6984871802548264	0.69789	0.807526858809	0.66562	0.601562201977	0.53125	T	0.596879	0.87022	D	0.541534	0.95488	D	0.540099	0.95420	D	0.999754726886749	0.98831	D	0.959904	0.84889	D	0.9499764	0.96263	0.94546807	0.98120	0.9499764	0.96263	0.94546807	0.98120	-7.658	0.58715	D	.	.	0.854	0.79970	P	.	.	4.753978	0.76787	26.6	0.99923634956981966	0.98917	0.99259	0.93576	D	AEFDBI	0.837950	0.75552	D	0.9285539849548	0.93086	11.81309	0.779445182361551	0.88330	9.541768	0.999919411962109	0.45857	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	3.79	0.42757	5.501000	0.66665	.	.	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:1.0:0.0:0.0	13.958	0.63673	508	0.75398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	157.05	33	chr5	141303085	.	C	G	157.05	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.865;DP=641;ExcessHet=0;FS=191.338;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.25;ReadPosRankSum=2.11;SOR=7.475	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,23:126:99:0|1:141303079_C_G:161,0,3941:141303079	5	0	1	0
chr5	147828053	147828053	G	A	exonic	SPINK1	.	nonsynonymous SNV	SPINK1:NM_001379610:exon3:c.C163T:p.P55S,SPINK1:NM_001354966:exon4:c.C163T:p.P55S,SPINK1:NM_003122:exon4:c.C163T:p.P55S	Pancreatitis, hereditary, Autosomal dominant;Tropical calcific pancreatitis, Autosomal recessive, Autosomal dominant	1	1482	37	2	0	41	0.0136439	.	.	YES	45439	not_provided|Tropical_pancreatitis|not_specified|Hereditary_pancreatitis|SPINK1-related_disorder	MedGen:C3661900|MONDO:MONDO:0011986,MedGen:C1842402,OMIM:608189,Orphanet:103918|MedGen:CN169374|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.119	0.0125905751832	0.0033	0.00299521	0.0046	0.0014	0.0020	0.0001	0.0022	0.0060	0.0034	0.0064	0.0045084	697	154602	rs111966833	0.0062	0.0062	0.0063	0.0061	0.0070	0.0061	0.0061	0.0068	0.0068	0.0009	0.0024	0.0010	5.053e-05	0.0030	0.0061	0.0070	0.0070	0.0067	0.0037	0.0037	0.0038	0.0037	0.0061	0.0035	0.0034	0.0056	0.0054	0.0010	0	0.0031	0.0012	0	0.0024	0.0034	0.0061	0.0033	0.0054	0.753	0.05468	T	0.704	0.05642	T	0.012	0.16265	B	0.006	0.12133	B	0.061132	0.02141	N	1.864520	1	0.08975	N	.	.	.	-0.67	0.72458	T	-0.77	0.30140	N	0.06	0.03175	-0.9946	0.31405	T	0.080	0.31795	T	9	0.010206819	0.00228	T	0.012591	0.31297	T	0.119	0.33137	.	.	0.154104182512	0.14974	0.7319575142654835	0.73140	0.0190001024195	0.01855	0.266677975655	0.05711	T	0.11976	0.44151	T	-0.573726	0.00210	T	-0.594005	0.13320	T	0.00753080689292876	0.00087	T	0.834017	0.50309	T	0.08077794	0.18526	0.06412293	0.12806	0.066008665	0.14161	0.04189774	0.04867	-2.293	0.04517	T	0.07070805146391029	0.02753	0.129	0.27583	B	.;.	.;.	-3.786930	0.00002	0.001	0.13596742694646741	0.00273	0.00211	0.01201	N	AEFBI	0.056363	0.10414	N	-2.20527475759622	0.00075	0.003192724	-2.37631917493808	0.00044	0.001956046	0.999999999999817	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.9	-9.79	0.00411	-7.042000	0.00058	-20.000000	0.00162	-0.746000	0.03629	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0856:0.3198:0.4031:0.1914	5.027	0.13732	488	0.76887	Kazal domain|Kazal domain|Kazal domain|Kazal domain;Kazal domain|Kazal domain|Kazal domain|Kazal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003525	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.011364	0.08333	399.83	33	chr5	147828053	.	G	A	399.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.358;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.89;ReadPosRankSum=0.265;SOR=0.646	GT:AD:DP:GQ:PL	0/1:26,19:45:99:410,0,677	5	0	1	0
chr5	149026635	149026635	C	T	exonic	SH3TC2	.	nonsynonymous SNV	SH3TC2:NM_024577:exon12:c.G2990A:p.R997Q	Charcot-Marie-Tooth disease, type 4C, Autosomal recessive;Mononeuropathy of the median nerve, mild, Autosomal dominant	0	1510	12	0	0	12	0.00395778	.	.	YES	239775	Inborn_genetic_diseases|not_provided|Charcot-Marie-Tooth_disease_type_4|Charcot-Marie-Tooth_disease|Charcot-Marie-Tooth_disease_type_4C	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596,Orphanet:99949	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.245	0.0285784797279	0.0002	0.000998403	0.0004	0.0003	0.0003	0.0001	0	0.0004	0.0011	0.0004	0.0003299	51	154602	rs140307699	0.0003	0.0003	0.0003	0.0003	0.0054	0.0002	0.0002	0.0039	0.0034	0.0004	0.0010	0.0008	0.0003	0	0.0054	0.0002	0.0006	0.0002	0.0005	0.0005	0.0004	0.0006	0.0027	0.0004	0.0004	0.0020	0.0018	0.0003	0	0.0027	0.0006	0	0	0.0034	0.0002	0.0014	0	0.013	0.53900	D	0.03	0.54159	D	0.883	0.48537	P	0.055	0.25995	B	0.000652	0.42656	D	0.178976	0.820365	0.35379	D	1.04	0.26193	L	-1.15	0.77964	T	-1.35	0.33598	N	0.371	0.41261	-0.5933	0.65089	T	0.252	0.62223	T	10	0.022671163	0.00572	T	0.028578	0.51232	D	0.349	0.67049	.	.	0.759444997776	0.75725	0.18556143942894496	0.18474	0.0829618324035	0.09358	0.389659881592	0.23622	T	0.214152	0.57566	T	-0.225929	0.17190	T	-0.197009	0.54930	T	0.0181429474112957	0.00536	T	0.89941	0.64770	D	0.15207776	0.34539	0.1256997	0.30284	0.15207776	0.34539	0.1256997	0.30284	-6.133	0.47379	T	0.3858751087232162	0.47969	0.12	0.24767	B	.;.	.;.	4.318094	0.66070	24.9	0.99708630851619062	0.81143	0.80026	0.39776	D	AEFDBI	0.475873	0.51953	N	0.307016538149563	0.56509	3.815622	0.396890965903832	0.61372	4.336468	0.99998660577659	0.51787	0.554377	0.28877	0	0.59043	0.45803	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.37	4.43	0.52967	2.913000	0.48487	4.760000	0.44710	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.8485:0.0:0.1515	10.857	0.46011	759	0.50631	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.010870	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	627.83	33	chr5	149026635	.	C	T	627.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.13;DP=238;ExcessHet=0;FS=3.894;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=1.83;SOR=1.287	GT:AD:DP:GQ:PL	0/1:38,22:60:99:638,0,1042	5	0	1	0
chr5	149621740	149621740	G	A	exonic	ARHGEF37	.	nonsynonymous SNV	ARHGEF37:NM_001001669:exon9:c.G1013A:p.R338Q	.	419	1033	67	3	0	73	0.0341281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.287	.	0.0017	0.00239617	0.0035	0.0005	0.0013	0.0002	0.0002	0.0026	0.0035	0.0150	0.0030659	474	154602	rs139526604	0.0020	0.0020	0.0015	0.0025	0.0186	0.0019	0.0019	0.0158	0.0147	0.0004	0.0010	0.0044	0.0002	0.0002	0.0186	0.0011	0.0026	0.0137	0.0015	0.0015	0.0013	0.0018	0.0097	0.0014	0.0013	0.0075	0.0067	0.0003	0	0.0019	0.0038	0.0002	0.0004	0.0034	0.0018	0.0028	0.0097	0.028	0.46129	D	0.039	0.51112	D	0.867	0.47667	P	0.4	0.44481	B	0.000024	0.55875	N	0.111842	1	0.81001	D	2.36	0.67893	M	-0.06	0.63568	T	-2.91	0.60982	D	0.196	0.21580	-0.5533	0.66661	T	0.282	0.65359	T	10	0.008068293	0.00183	T	.	.	.	0.287	0.60574	.	.	0.275215494804	0.27121	0.5262534306056779	0.52549	0.307136892763	0.33015	0.341207176447	0.16619	T	0.057572	0.30604	T	-0.238972	0.15480	T	-0.105012	0.63007	T	0.0394868305183321	0.03597	T	0.805919	0.45429	T	0.30385897	0.53248	0.41543442	0.65658	0.30385897	0.53248	0.41543442	0.65658	-2.71	0.07387	T	.	.	0.08	0.07793	B	.	.	3.930896	0.57454	23.9	0.99923209850801342	0.98917	0.98856	0.87762	D	AEFBI	0.633477	0.61371	D	0.47385892718642	0.65568	4.838959	0.506868326422859	0.68453	5.22189	0.999999999995626	0.74766	0.372202	0.05800	0	0.547309	0.14657	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	6.17	5.31	0.75063	6.854000	0.75239	7.439000	0.58857	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	0.0672:0.0:0.9328:0.0	15.280	0.73478	795	0.45444	BAR domain|BAR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015625	0.000000	0.008152	0.026316	0.000000	0.017241	0.018293	0.030303	0.08333	479.83	38	chr5	149621740	.	G	A	479.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.33;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=0.721;SOR=0.813	GT:AD:DP:GQ:PL	0/1:26,17:43:99:490,0,650	5	0	1	0
chr5	150374309	150374311	GAG	-	exonic	TCOF1	.	nonframeshift deletion	TCOF1:NM_000356:exon7:c.775_777del:p.E260del,TCOF1:NM_001135245:exon7:c.775_777del:p.E260del,TCOF1:NM_001008657:exon8:c.1006_1008del:p.E337del,TCOF1:NM_001135243:exon8:c.1006_1008del:p.E337del,TCOF1:NM_001135244:exon8:c.1006_1008del:p.E337del,TCOF1:NM_001195141:exon8:c.1006_1008del:p.E337del,TCOF1:NM_001371623:exon8:c.1006_1008del:p.E337del	Treacher Collins syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1410645816	1.395e-06	1.368e-06	1.383e-06	1.407e-06	1.203e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.115e-07	0	1.203e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	604.79	34	chr5	150374308	.	AGAG	A	604.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.153;DP=213;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.28;ReadPosRankSum=1.05;SOR=0.602	GT:AD:DP:GQ:PL	0/1:19,16:35:99:615,0,742	5	0	1	0
chr5	150848174	150848174	G	C	exonic	IRGM	.	nonsynonymous SNV	IRGM:NM_001145805:exon2:c.G51C:p.E17D,IRGM:NM_001346557:exon2:c.G51C:p.E17D	.	0	1444	76	2	0	80	0.0269542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	0.0024	0.00758786	0.0151	0.0005	0.0025	0.0014	0	0.0069	0	0.0307	0.0025355	392	154602	rs180802994	0.0037	0.0036	0.0027	0.0048	0.0310	0.0036	0.0036	0.0299	0.0295	0.0006	0.0022	0.0212	8.366e-05	4.059e-05	0.0193	0.0016	0.0056	0.0310	0.0027	0.0027	0.0022	0.0032	0.0313	0.0025	0.0024	0.0272	0.0257	0.0003	0	0.0033	0.0153	0.0002	0	0.0204	0.0020	0.0024	0.0313	0.322	0.13479	T	0.414	0.14369	T	0.121	0.26708	B	0.111	0.31539	B	.	.	.	.	1	0.08975	N	1.22	0.30592	L	1.95	0.22474	T	-1.56	0.37759	N	0.019	0.00279	-0.9682	0.37571	T	0.034	0.14464	T	9	0.003407836	0.00060	T	.	.	.	0.017	0.02790	0.15	0.05339	.	.	0.14367832538051503	0.14290	.	.	0.297916293144	0.10092	T	0.044177	0.26733	T	-0.6804	0.00048	T	-0.727127	0.04459	T	0.00919124405454149	0.00116	T	0.418758	0.11073	T	0.14510521	0.33277	0.09698936	0.23066	0.11300703	0.26692	0.09698936	0.23066	-4.762	0.34145	T	.	.	0.120	0.24867	B	.	.	0.889967	0.12634	9.159	0.80049062204180466	0.13021	0.01111	0.04064	N	AEFBI	0.025991	0.01875	N	-0.990399398596672	0.08807	0.4144106	-1.0681973073783	0.08332	0.4092104	0.0196309574440318	0.13180	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.48	1.13	0.19758	-0.447000	0.06901	-0.857000	0.07156	0.578000	0.29377	0.023000	0.19925	0.000000	0.08366	0.104000	0.18471	0.2084:0.0:0.534:0.2576	2.696	0.04816	692	0.58729	.	.	.	.	.	.	Likely benign	0	0	0	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	0.014045	0.006329	0.000000	0.000000	0.100000	0.045455	0.013333	0.030303	0.08333	1688.83	33	chr5	150848174	.	G	C	1688.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.545;DP=324;ExcessHet=0;FS=3.713;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.49;ReadPosRankSum=-0.831;SOR=0.399	GT:AD:DP:GQ:PL	0/1:42,67:109:99:1699,0,1222	5	0	1	0
chr5	151140207	151140207	C	A	exonic	ANXA6	.	nonsynonymous SNV	ANXA6:NM_001155:exon3:c.G55T:p.G19C,ANXA6:NM_001363114:exon3:c.G55T:p.G19C	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.0168897654463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.751e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.70582	D	0.495	0.37059	P	0.261	0.39516	B	0.000380	0.45194	D	0.248511	1	0.81001	D	2.2	0.62015	M	2.68	0.12371	T	-4.82	0.83967	D	0.266	0.31702	-1.0599	0.11781	T	0.043	0.18326	T	10	0.18349841	0.33679	T	0.01689	0.38356	T	0.122	0.33800	0.477	0.55502	0.356484672536	0.35262	0.47484438249070254	0.47403	0.120873157653	0.13611	0.252226233482	0.04005	T	0.787859	0.94460	D	-0.129834	0.31521	T	-0.424274	0.30586	T	0.991848945617676	0.82201	D	0.89671	0.76258	D	0.8001258	0.83913	0.43174204	0.66782	0.8001258	0.83915	0.43174204	0.66782	-7.974	0.60892	D	.	.	0.135	0.48685	B	.;.;.;.;.	.;.;.;.;.	2.168281	0.27628	17.53	0.99100714432628545	0.52471	0.60231	0.31137	D	AEFGBI	0.316763	0.42096	N	-0.652635431083084	0.17385	0.8940651	-0.767006248512232	0.15305	0.8042599	0.999942840458381	0.47345	0.706298	0.61202	0	0.685571	0.66316	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.31	0.012	0.13410	0.385000	0.20413	-1.350000	0.05649	-0.182000	0.10109	0.036000	0.20778	0.000000	0.08366	0.940000	0.48062	0.0:0.6366:0.0:0.3634	10.196	0.42232	671	0.60868	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	395.83	34	chr5	151140207	.	C	A	395.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.074;DP=201;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=0.985;SOR=0.895	GT:AD:DP:GQ:PL	0/1:13,17:30:99:406,0,317	5	0	1	0
chr5	154834880	154834880	G	C	exonic	FAXDC2	.	nonsynonymous SNV	FAXDC2:NM_032385:exon3:c.C103G:p.L35V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0225774624919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.51e-05	8.073e-05	1.775e-05	1.243e-05	5.991e-05	9.89e-06	8.44e-06	1.015e-05	8.37e-06	5.991e-05	0	0	0	0	0	1.624e-05	3.321e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.22660	T	0.192	0.28300	T	0.741	0.42992	P	0.178	0.35748	B	0.000062	0.52346	D	0.127254	0.999577	0.47641	D	2.33	0.66821	M	0.11	0.61208	T	-1.43	0.42575	N	0.476	0.55280	-0.7898	0.55741	T	0.177	0.52272	T	10	0.3608216	0.52717	T	0.022577	0.45482	T	0.128	0.35103	0.368	0.37687	0.50685403127	0.50322	0.5472392752767269	0.54649	0.565306047963	0.52874	0.427203059196	0.28826	T	0.006447	0.05881	T	-0.0350922	0.46673	T	-0.288184	0.45962	T	0.975553870201111	0.70985	D	0.824718	0.55237	T	0.1653164	0.36795	0.16677296	0.38511	0.1653164	0.36795	0.16677296	0.38510	-4.327	0.28554	T	.	.	0.122	0.45149	B	.;.;.;.;.	.;.;.;.;.	3.205176	0.43602	21.8	0.99783212881991934	0.86955	0.93639	0.58770	D	AEFDGBHCI	0.839166	0.75660	D	0.282525933287588	0.55260	3.690427	0.346314316601126	0.58285	3.998306	0.999999999999752	0.74766	0.536635	0.22144	0	0.546412	0.12157	0	0.489635	0.07774	0	0.322989	0.05693	1	.	.	6.04	5.18	0.71140	4.974000	0.63486	8.428000	0.77165	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0681:0.0:0.9319:0.0	15.162	0.72472	879	0.29470	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	448.6	129	chr5	154834880	.	G	C	448.6	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-4.142;DP=810;ExcessHet=1.383;FS=305.479;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.33;ReadPosRankSum=0.852;SOR=9.712	GT:AD:DP:GQ:PL	0/1:71,40:118:99:246,0,1464	3	0	3	0
chr5	168502030	168502030	G	A	exonic	RARS1	.	nonsynonymous SNV	RARS1:NM_002887:exon9:c.G982A:p.V328I	.	451	1042	27	2	0	31	0.0146572	.	.	.	369735	RARS1-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.080	.	0.0036	0.0103834	0.0084	0.0015	0.0022	0	0.0006	0.0057	0.0033	0.0357	0.0076648	1185	154602	rs62385662	0.0069	0.0071	0.0061	0.0078	0.0349	0.0068	0.0068	0.0338	0.0334	0.0008	0.0026	0.0052	5.211e-05	0.0015	0.0121	0.0058	0.0060	0.0349	0.0047	0.0047	0.0043	0.0051	0.0349	0.0044	0.0043	0.0306	0.0290	0.0009	0	0.0056	0.0035	0	0.0008	0.0102	0.0058	0.0043	0.0349	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.014	0.16862	B	0.000002	0.62929	N	0.097391	0.897314	0.27769	N	0.09	0.08384	N	-0.24	0.66834	T	0.34	0.03824	N	0.132	0.12770	-1.0317	0.19905	T	0.083	0.32499	T	10	0.0030251145	0.00050	T	.	.	.	0.080	0.23350	.	.	0.327952845175	0.32413	0.2619038956411178	0.26104	0.102547148588	0.11607	0.240840762854	0.02866	T	0.092985	0.39118	T	-0.539611	0.00337	T	-0.523516	0.19940	T	0.000982415210076527	0.00009	T	0.748625	0.36937	T	0.029705701	0.02508	0.03727165	0.03346	0.029705701	0.02508	0.03727165	0.03346	-3.975	0.23428	T	0.07787395530918212	0.03689	0.070	0.03407	B	.	.	0.481741	0.08514	5.274	0.19889733911019364	0.00691	0.27502	0.23295	N	AEFBI	0.054241	0.09844	N	-0.710132157647346	0.15736	0.7956725	-0.50197793115811	0.22099	1.198669	0.999279479482713	0.38974	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.14	3.99	0.45527	2.019000	0.40620	1.065000	0.23755	-0.704000	0.03997	1.000000	0.71638	0.459000	0.24993	0.429000	0.27427	0.8443:0.0:0.1557:0.0	9.332	0.37191	972	0.05671	Arginyl-tRNA synthetase, catalytic core domain|Arginyl-tRNA synthetase, catalytic core domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010101	0.005102	0.009511	0.002924	0.000000	0.025862	0.015432	0.018939	0.08333	741.83	36	chr5	168502030	.	G	A	741.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.059;DP=222;ExcessHet=0;FS=2.487;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=-2.865;SOR=0.412	GT:AD:DP:GQ:PL	0/1:19,32:51:99:752,0,369	5	0	1	0
chr5	169598495	169598495	A	T	exonic	SPDL1	.	nonsynonymous SNV	SPDL1:NM_001329639:exon9:c.A1052T:p.E351V,SPDL1:NM_001329640:exon9:c.A1052T:p.E351V,SPDL1:NM_001329641:exon9:c.A1052T:p.E351V,SPDL1:NM_017785:exon9:c.A1052T:p.E351V,SPDL1:NM_001329642:exon10:c.A839T:p.E280V,SPDL1:NM_001329643:exon10:c.A839T:p.E280V	.	458	1026	36	2	0	40	0.0191205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	0.0052	0.00519169	0.0070	0.0016	0.0024	0	0.0009	0.0063	0.0143	0.0221	0.0066041	1021	154602	rs143453400	0.0074	0.0075	0.0069	0.0079	0.0223	0.0073	0.0073	0.0215	0.0211	0.0011	0.0027	0.0213	0.0001	0.0012	0.0123	0.0069	0.0078	0.0223	0.0054	0.0054	0.0056	0.0052	0.0263	0.0051	0.0050	0.0226	0.0212	0.0012	0	0.0033	0.0231	0.0002	0.0009	0.0102	0.0073	0.0047	0.0263	0.038	0.42783	D	0.049	0.48336	D	0.383	0.34425	B	0.151	0.34210	B	0.005567	0.32687	N	0.342683	0.653632	0.30511	N	1.24	0.30952	L	1.27	0.36146	T	-2.9	0.60827	D	0.574	0.59648	-0.8781	0.49911	T	0.113	0.40331	T	10	0.004106611	0.00081	T	.	.	.	0.069	0.20116	.	.	0.493964856914	0.49030	0.10170001217084026	0.10100	0.195775768481	0.21932	0.405035167933	0.25769	T	0.068886	0.33570	T	-0.487323	0.00672	T	-0.455863	0.27051	T	0.0214386891831938	0.00847	T	0.731327	0.34690	T	0.10228599	0.24167	0.10267653	0.24615	0.10732706	0.25379	0.10267653	0.24614	-4.592	0.32071	T	.	.	0.116	0.23219	B	.	.	4.513245	0.70700	25.6	0.99283097900901096	0.57973	0.92365	0.55543	D	AEFBI	0.293992	0.40448	N	0.150376278577631	0.48831	3.090472	0.22321824879197	0.51139	3.299027	0.99997338782583	0.50053	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.85	4.7	0.58776	3.010000	0.49246	5.961000	0.51824	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.7774:0.1482:0.0744:0.0	7.067	0.24336	930	0.16408	.	.	.	.	.	.	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	0.007049	0.005051	0.010870	0.000000	0.000000	0.017241	0.009146	0.003788	0.08333	637.83	33	chr5	169598495	.	A	T	637.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.254;DP=220;ExcessHet=0;FS=1.083;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=0.793;SOR=0.99	GT:AD:DP:GQ:PL	0/1:28,25:53:99:648,0,680	5	0	1	0
chr5	170270829	170270829	G	A	exonic	LCP2	.	nonsynonymous SNV	LCP2:NM_005565:exon7:c.C413T:p.P138L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0089008721655	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1172335425	6.852e-07	6.84e-07	0	1.378e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.27663	T	0.445	0.17064	T	0.001	0.07471	B	0.003	0.08700	B	0.336809	0.14026	N	0.681915	1	0.08975	N	1.39	0.34934	L	1.0	0.41392	T	-0.77	0.21429	N	0.227	0.26475	-1.0287	0.20876	T	0.060	0.24981	T	9	0.09638089	0.17284	T	0.008901	0.23463	T	0.013	0.01715	0.288	0.24761	0.158540857583	0.15491	0.1574275740673023	0.15663	0.174210107622	0.19610	0.349668771029	0.17873	T	0.356584	0.72341	T	-0.255264	0.13460	T	-0.604446	0.12440	T	0.0446440707310699	0.04537	T	0.741226	0.36032	T	0.02721166	0.01880	0.033363864	0.02219	0.02721166	0.01880	0.033363864	0.02218	-4.739	0.33872	T	.	.	0.071	0.03773	B	.;.	.;.	1.095174	0.14792	11.33	0.58599517024950165	0.06030	0.04924	0.10679	N	AEFDBI	0.083745	0.16968	N	-0.829593762140962	0.12557	0.6128677	-0.793376257183861	0.14658	0.7669894	0.999806806638983	0.43304	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.4	3.59	0.40253	1.316000	0.33226	2.007000	0.30148	0.676000	0.76740	0.141000	0.23520	0.818000	0.27101	0.063000	0.16184	0.1895:0.0:0.8105:0.0	8.221	0.30699	805	0.43675	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1241.83	33	chr5	170270829	.	G	A	1241.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.99;DP=285;ExcessHet=0;FS=0.786;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=0.032;SOR=0.577	GT:AD:DP:GQ:PL	0/1:46,45:91:99:1252,0,1132	5	0	1	0
chr5	176896096	176896096	C	G	exonic	HK3	.	nonsynonymous SNV	HK3:NM_002115:exon2:c.G64C:p.G22R	.	425	1094	2	1	0	4	0.00182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.050555579138	0.0006	0.000199681	0.0006	0	0.0003	0	0.0002	0.0008	0	0.0005	0.0005304	82	154602	rs201418082	0.0005	0.0005	0.0005	0.0005	0.0021	0.0004	0.0004	0.0012	0.0009	0	0.0006	0.0054	0	3.744e-05	0.0021	0.0004	0.0006	0.0005	0.0004	0.0004	0.0004	0.0005	0.0007	0.0004	0.0003	0.0004	0.0003	9.625e-05	0	0.0007	0.0055	0	0	0.0034	0.0004	0.0009	0.0004	0.005	0.63226	D	0.003	0.76473	D	0.706	0.42003	P	0.294	0.40804	B	0.043315	0.23752	N	0.211546	1	0.08975	N	0.55	0.14455	N	-4.63	0.97902	D	-0.14	0.09135	N	0.337	0.37820	0.245	0.86663	D	0.761	0.91862	D	10	0.006638795	0.00150	T	0.050556	0.64291	D	0.241	0.54641	.	.	0.851315264002	0.84988	0.46432178357590964	0.46351	0.205290401865	0.22950	0.309876739979	0.11889	T	0.053245	0.29389	T	-0.180754	0.23625	T	-0.138836	0.60219	T	0.015969632493224	0.00379	T	0.748625	0.36937	T	0.10052545	0.23737	0.10466212	0.25142	0.10052545	0.23737	0.10466212	0.25142	-4.398	0.29530	T	.	.	0.099	0.16886	B	.	.	1.521710	0.19533	14.31	0.9805506315314636	0.37897	0.08065	0.14038	N	AEFDBHCI	0.089402	0.18121	N	-0.665448381877779	0.17012	0.8717984	-0.788548299149569	0.14775	0.7738248	0.999997874999774	0.74766	0.569682	0.32691	0	0.59043	0.45803	0	0.573078	0.19857	0	0.567339	0.31927	0	.	.	3.56	1.73	0.23565	0.113000	0.15333	1.052000	0.23646	0.599000	0.40250	0.003000	0.16062	0.001000	0.17328	0.025000	0.12405	0.0:0.6571:0.221:0.1219	4.845	0.12869	597	0.68309	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001009	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	649.83	39	chr5	176896096	.	C	G	649.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.725;DP=242;ExcessHet=0;FS=2.058;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=1.22;SOR=0.972	GT:AD:DP:GQ:PL	0/1:36,29:65:99:660,0,988	5	0	1	0
chr5	177210738	177210738	C	T	exonic	NSD1	.	nonsynonymous SNV	NSD1:NM_022455:exon5:c.C2339T:p.S780L,NSD1:NM_001365684:exon6:c.C1532T:p.S511L,NSD1:NM_172349:exon6:c.C1532T:p.S511L	Beckwith-Wiedemann syndrome, Autosomal dominant;Leukemia, acute myeloid, Autosomal dominant;Sotos syndrome 1, Autosomal dominant	0	1488	33	1	0	35	0.011624	.	.	YES	239787	not_provided|NSD1-related_disorder|not_specified|Inborn_genetic_diseases|Sotos_syndrome	MedGen:C3661900|.|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0019349,MedGen:C0175695,OMIM:117550,Orphanet:821	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.203	0.119532793554	0.0002	0.00159744	0.0015	0.0005	0.0003	0.0001	0	0.0002	0.0033	0.0090	0.0012678	196	154602	rs201327209	0.0007	0.0007	0.0004	0.0009	0.0078	0.0006	0.0006	0.0073	0.0072	0.0006	0.0001	3.826e-05	0.0001	1.872e-05	0.0045	0.0001	0.0013	0.0078	0.0004	0.0004	0.0002	0.0006	0.0079	0.0003	0.0003	0.0059	0.0052	0.0002	0	6.537e-05	0	0	0	0.0034	0.0001	0	0.0079	0.369	0.11586	T	0.157	0.31730	T	0.001	0.07471	B	0.001	0.04355	B	0.479984	0.04976	N	1.312980	1	0.08975	N	0.665	0.16292	N	-2.92	0.91748	D	-0.93	0.24898	N	0.123	0.11483	-0.5315	0.67484	T	0.501	0.81130	D	9	0.0071305633	0.00162	T	0.119533	0.79986	D	0.203	0.48915	.	.	0.285775778912	0.28195	0.1697416330843925	0.16894	0.0501952522484	0.05511	0.305351316929	0.11204	T	0.066807	0.33039	T	-0.46338	0.00936	T	-0.432275	0.29678	T	0.000333618925651535	0.00003	T	0.835416	0.50550	T	0.022735035	0.00958	0.0322699	0.01938	0.02184088	0.00810	0.035779733	0.02895	-3.889	0.23023	T	0.09667254712048216	0.06716	0.062	0.04080	B	.;.;.	.;.;.	1.123340	0.15092	11.58	0.7050257673748207	0.09317	0.11542	0.16702	N	AEFBI	0.038157	0.05359	N	-1.10106651792145	0.06625	0.3054917	-1.05623962233042	0.08577	0.4223897	0.0861538822561668	0.16001	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.82	2.02	0.25641	0.173000	0.16538	0.725000	0.21043	-0.202000	0.08738	0.002000	0.15269	0.239000	0.23838	0.733000	0.35199	0.0:0.6073:0.0:0.3927	6.754	0.22692	917	0.20147	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.003788	0.08333	4722.83	40	chr5	177210738	.	C	T	4722.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.94;DP=1468;ExcessHet=0;FS=2.172;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.057;SOR=0.808	GT:AD:DP:GQ:PL	0/1:200,180:380:99:4733,0,4820	5	0	1	0
chr6	20546466	20546466	G	A	exonic	CDKAL1	.	nonsynonymous SNV	CDKAL1:NM_017774:exon3:c.G116A:p.R39Q	.	432	1081	8	1	0	10	0.00460405	.	.	.	699472	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.153	.	0.0071	0.00259585	0.0054	0.0009	0.0028	0.0001	0.0060	0.0075	0.0055	0.0041	0.0056144	868	154602	rs111739077	0.0079	0.0079	0.0080	0.0078	0.0091	0.0078	0.0077	0.0089	0.0089	0.0011	0.0031	0.0060	5.04e-05	0.0069	0.0052	0.0091	0.0062	0.0038	0.0057	0.0057	0.0062	0.0052	0.0092	0.0054	0.0053	0.0086	0.0084	0.0018	0	0.0038	0.0069	0.0006	0.0051	0.0034	0.0092	0.0043	0.0037	0.091	0.31834	T	0.135	0.41405	T	0.954	0.90584	P	0.415	0.86255	B	0.000000	0.84330	D	0.000000	0.993716	0.42029	D	.	.	.	0.93	0.44065	T	-1.31	0.32791	N	0.606	0.71232	-0.8298	0.53314	T	0.209	0.56852	T	10	0.006807238	0.00155	T	.	.	.	0.153	0.40148	.	.	0.313793572803	0.30980	0.5731763301366447	0.57245	0.93356521774	0.71938	0.409099698067	0.26332	T	0.303158	0.67553	T	-0.449014	0.01145	T	-0.406078	0.32680	T	0.0338944632766614	0.02619	T	0.918208	0.70605	D	0.14913969	0.34014	0.13883768	0.33145	0.17254993	0.37952	0.13883768	0.33144	-4.751	0.34962	T	.	.	0.144	0.31733	B	.;.;.	.;.;.	4.451304	0.69200	25.3	0.99924187557553368	0.98980	0.89815	0.50527	D	AEFDBCIJ	0.818165	0.73948	D	0.75231100433812	0.83055	7.918152	0.763805207817985	0.87184	9.135662	0.999999776469401	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.709663	0.75317	0	0.592323	0.36904	0	.	.	5.5	5.5	0.81386	7.952000	0.87328	11.781000	0.96113	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:0.0:1.0:0.0	19.592	0.95510	834	0.38640	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.000000	0.009511	0.008772	0.000000	0.000000	0.003049	0.000000	0.1667	1338.04	34	chr6	20546466	.	G	A	1338.04	.	AC=2;AF=0.167;AN=12;DP=218;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.12;SOR=1.455	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1358,129,0	5	1	0	0
chr6	24145554	24145554	C	T	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196T:p.L66F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0253960966298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.013	0.63109	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.69	0.78713	M	2.04	0.39401	T	-1.57	0.50175	N	0.716	0.72120	-0.9366	0.43149	T	0.125	0.43008	T	10	0.44065765	0.58079	T	0.025396	0.48370	D	0.220	0.51569	0.202	0.11659	0.625481101073	0.62243	0.6214858075856532	0.62081	1.05154938784	0.76170	0.661980450153	0.61693	T	0.106732	0.41833	T	0.0952099	0.63771	D	-0.101014	0.63320	T	0.97040581703186	0.68937	D	0.857914	0.54791	D	0.46572846	0.65027	0.39292505	0.64025	0.46572846	0.65028	0.39292505	0.64025	-5.631	0.43075	T	.	.	0.162	0.37159	B	.;.;.	.;.;.	4.745988	0.76591	26.5	0.99895236271233467	0.96819	0.96227	0.68120	D	AEFBCI	0.831099	0.74969	D	0.760478614766467	0.83585	8.056313	0.721496033539898	0.84012	8.174695	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	503.44	70	chr6	24145554	.	C	T	503.44	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.692;DP=350;ExcessHet=3.1439;FS=221.294;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.44;ReadPosRankSum=-0.783;SOR=9.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,15:45:97:.:.:97,0,346:.	3	0	3	0
chr6	31355338	31355338	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A874G:p.K292E	.	1	1059	462	0	0	462	0.17907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	.	.	0.1873	0.2102	0.1521	0.2285	0.1750	0.1708	0.2005	0.2469	0.0006531	17	26028	rs41541515	1.925e-05	0.0003	1.916e-05	1.935e-05	6.078e-05	1.335e-05	1.149e-05	1.006e-05	3.76e-06	6.078e-05	0	0.0005	0	0	0	9.027e-06	3.34e-05	2.33e-05	6.22e-05	0.0011	8.537e-05	3.706e-05	7.636e-05	2.881e-05	2.058e-05	1.414e-05	6.92e-06	7.636e-05	0	0	0.0003	0	0.0001	0	5.327e-05	0	0	0.277	0.15665	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.026571	0.25897	N	0.181463	0.999999	0.08975	N	.	.	.	2.69	0.12268	T	1.44	0.00794	N	0.014	0.00160	-0.9487	0.41194	T	0.003	0.00800	T	10	0.0029622018	0.00048	T	.	.	.	0.023	0.04649	.	.	.	.	0.09070377229671633	0.09003	0.307519446834	0.33047	.	.	.	0.030329	0.21526	T	-0.267069	0.12086	T	-0.621403	0.11076	T	0.00635520461095454	0.00071	T	0.121988	0.02209	T	0.23476017	0.46301	0.11296048	0.27259	0.23476017	0.46301	0.11296048	0.27258	2.737	0.00027	T	.	.	0.051	0.01328	B	.;.;.;.	.;.;.;.	-0.115766	0.03549	0.681	0.33208941956949856	0.01966	0.00329	0.01719	N	AEFDBHCI	0.042199	0.06517	N	-1.61921237088875	0.01172	0.05092742	-1.59245928361148	0.01701	0.07728939	0.99999239206602	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.530356	0.10902	0	.	.	3.16	-1.11	0.09336	-2.713000	0.00887	.	.	-1.064000	0.01611	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.5345:0.1577:0.3077	4.780	0.12569	934	0.15400	.;Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin-like domain|Immunoglobulin C1-set;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.220557	0.202020	0.191576	0.234234	0.150000	0.250000	0.253049	0.268939	0.1667	1332.09	139	chr6	31355338	.	T	C	1332.09	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.36;DP=752;ExcessHet=0.4139;FS=0.922;MLEAC=2;MLEAF=0.167;MQ=57.59;MQRankSum=-8.593;QD=4.72;ReadPosRankSum=1.97;SOR=0.626	GT:AD:DP:GQ:PL	0/1:113,47:160:99:735,0,3226	4	0	2	0
chr6	31355425	31355425	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A787G:p.R263G	.	0	927	595	0	0	595	0.242956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	.	.	0.2427	0.2221	0.2151	0.2593	0.1977	0.2427	0.2413	0.2835	3.84e-05	1	26028	rs41545916	6.978e-05	0.0017	7.287e-05	6.665e-05	0.0004	5.837e-05	5.445e-05	6.35e-05	2.683e-05	6.07e-05	6.798e-05	0.0015	0	0	0.0004	3.628e-05	0.0001	8.195e-05	0.0003	0.0048	0.0004	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	0.0003	0.0011	0.0003	0	0	0.0003	0.0007	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.017476	0.27716	N	0.165679	0.986046	0.24654	N	.	.	.	4.34	0.02341	T	3.3	0.00105	N	0.051	0.02272	-1.0151	0.25304	T	0.000	0.00114	T	10	0.0015430152	0.00017	T	.	.	.	0.070	0.20419	.	.	.	.	0.3942460569328166	0.39339	0.283348990526	0.30779	.	.	.	0.019855	0.15737	T	-0.268638	0.11909	T	-0.623656	0.10901	T	0.00166754910760778	0.00017	T	0.446155	0.12501	T	0.3324303	0.55668	0.11348576	0.27388	0.3324303	0.55669	0.11348576	0.27388	2.773	0.00026	T	.	.	0.034	0.00010	B	.;.	.;.	0.246319	0.06261	2.715	0.81034162823799205	0.13487	0.00542	0.02495	N	AEFDBHCI	0.071522	0.14241	N	-1.65128738568244	0.01029	0.04464861	-1.46518231632646	0.02636	0.1215648	0.999996036317984	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.663205	0.64265	0	.	.	3.16	1.33	0.20958	1.006000	0.29449	.	.	-1.096000	0.01523	0.050000	0.21411	0.000000	0.08366	0.043000	0.14563	0.0:0.778:0.0:0.222	7.857	0.28649	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.260000	0.227273	0.254076	0.257426	0.150000	0.267241	0.246951	0.265152	0.4167	1815.52	187	chr6	31355425	.	T	C	1815.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.604;DP=951;ExcessHet=6.1542;FS=15.436;MLEAC=5;MLEAF=0.417;MQ=57.47;MQRankSum=-12.39;QD=2.26;ReadPosRankSum=-0.065;SOR=1.218	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:125,32:157:99:.:.:550,0,4014:.	1	0	5	0
chr6	31356431	31356431	G	0	exonic	HLA-B	.	.	.	.	137	311	365	102	607	1176	0.47775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1898.64	36	chr6	31356431	.	G	*	1898.64	.	AC=4;AF=0.333;AN=12;DP=258;ExcessHet=1.383;FS=0.513;MLEAC=4;MLEAF=0.333;MQ=55.96;QD=7.45;SOR=0.629	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,47:51:26:0|1:31356399_C_G:2141,168,26:31356399	2	0	4	0
chr6	31356716	31356717	CA	0	exonic	HLA-B	.	.	.	.	0	89	17	5	115	142	0.131707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	911.56	68	chr6	31356716	.	CA	*	911.56	.	AC=7;AF=0.583;AN=12;BaseQRankSum=-2.317;DP=301;ExcessHet=3.1439;FS=8.639;MLEAC=7;MLEAF=0.583;MQ=57.29;MQRankSum=-5.189;QD=3.03;ReadPosRankSum=0.379;SOR=1.131	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,45:45:99:1|1:31356711_C_CGGAG:2025,135,0:31356711	1	2	3	0
chr6	31356719	31356720	GT	0	exonic	HLA-B	.	.	.	.	10	742	10	2	758	772	0.00934579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	959.56	67	chr6	31356719	.	GT	*	959.56	.	AC=7;AF=0.583;AN=12;BaseQRankSum=-1.85;DP=306;ExcessHet=3.1439;FS=9.668;MLEAC=7;MLEAF=0.583;MQ=57.16;MQRankSum=-5.204;QD=3.14;ReadPosRankSum=0.145;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,45:45:99:1|1:31356711_C_CGGAG:2025,135,0:31356711	1	2	3	0
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	970.0	94	chr6	31356748	.	CCT	*	970.0	.	AC=10;AF=0.833;AN=12;DP=405;ExcessHet=0;FS=0;MLEAC=10;MLEAF=0.833;MQ=52.02;QD=2.4;SOR=1.675	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,55:55:99:1|1:31356711_C_CGGAG:2475,166,0:31356711	1	5	0	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	4040.99	132	chr6	31356827	.	T	*	4040.99	.	AC=9;AF=0.75;AN=12;DP=671;ExcessHet=0;FS=3.165;MLEAC=9;MLEAF=0.75;MQ=54.87;QD=6.07;SOR=0.783	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,99:99:99:1|1:31356809_C_T:4426,298,0:31356809	0	3	3	0
chr6	31625601	31625601	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.T749C:p.M250T,PRRC2A:NM_080686:exon7:c.T749C:p.M250T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0178076993305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.022e-07	6.841e-07	0	1.42e-06	9.161e-07	0	0	.	.	0	0	0	0	0	0	9.161e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.16	0.31427	T	0.985	0.61118	D	0.637	0.51992	P	0.000005	0.62929	D	0.000000	0.995498	0.42717	D	2.105	0.58435	M	4.53	0.01980	T	-4.28	0.76334	D	0.586	0.61680	-0.8368	0.52858	T	0.008	0.02720	T	10	0.43278176	0.57599	T	0.017808	0.39652	T	0.142	0.37995	0.195	0.10705	0.128874641272	0.12493	0.5487022548939708	0.54796	0.180877748463	0.20346	0.868078529835	0.92292	D	0.045246	0.27062	T	-0.000470291	0.51590	T	-0.238452	0.50949	T	0.941546738147736	0.61490	D	0.757724	0.38135	T	0.6803623	0.76989	0.726591	0.83849	0.6803623	0.76990	0.726591	0.83850	-10.319	0.75799	D	.	.	0.987	0.96107	P	.;.	.;.	3.901954	0.56841	23.8	0.93194787374129984	0.22862	0.76208	0.37359	D	AEFDBCI	0.190166	0.31740	N	0.457200889062192	0.64613	4.719805	0.475887910268732	0.66395	4.94659	0.999999757296763	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.242000	0.51082	.	.	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	13.917	0.63410	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	2026.55	105	chr6	31625601	.	T	C	2026.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.14;DP=643;ExcessHet=11.5949;FS=279.671;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.37;ReadPosRankSum=1.33;SOR=9.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,27:87:99:0|1:31625601_T_C:373,0,1730:31625601	0	0	6	0
chr6	31625602	31625602	G	A	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750A:p.M250I,PRRC2A:NM_080686:exon7:c.G750A:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0251130273271	7.7e-05	.	1.784e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs145609055	3.51e-06	4.788e-06	5.554e-06	1.42e-06	0.0001	1.03e-06	7.5e-07	4.163e-05	2.527e-05	0.0001	0	0	0	0	0	9.159e-07	0	0	6.577e-06	6.567e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.123	0.27544	T	0.045	0.49390	D	0.817	0.45613	P	0.292	0.40739	B	0.000005	0.62929	D	0.000000	0.999301	0.46608	D	2.105	0.58435	M	4.62	0.01834	T	-1.88	0.43906	N	0.361	0.40565	-0.6283	0.63643	T	0.004	0.01400	T	10	0.19789547	0.35739	T	0.025113	0.48090	D	0.179	0.44899	0.192	0.10304	0.19168177325	0.18762	0.40434125802200627	0.40350	0.17321795193	0.19509	0.804894983768	0.82710	D	0.021964	0.17018	T	-0.199437	0.20885	T	-0.287586	0.46022	T	0.45686399936676	0.31050	T	0.867413	0.56831	D	0.274247	0.50490	0.26731342	0.52588	0.274247	0.50490	0.26731342	0.52587	-5.343	0.40366	T	.	.	0.916	0.88221	P	.;.	.;.	4.189641	0.63134	24.5	0.9887765022119781	0.47771	0.95609	0.65407	D	AEFDBCI	0.573860	0.57688	D	0.38079905834961	0.60382	4.226512	0.455960616804997	0.65101	4.781292	0.999999999999631	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.736000	0.54774	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	17.348	0.87202	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	2340.55	105	chr6	31625602	.	G	A	2340.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-3.649;DP=645;ExcessHet=11.5949;FS=309.606;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.89;ReadPosRankSum=1.19;SOR=8.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,38:88:99:0|1:31625601_T_C:687,0,1055:31625601	0	0	6	0
chr6	31996544	31996544	T	C	exonic	C4A;C4B;C4B_2;LOC110384692	.	nonsynonymous SNV	C4B:NM_001002029:exon28:c.T3620C:p.V1207A,C4B_2:NM_001242823:exon28:c.T3620C:p.V1207A,C4A:NM_001252204:exon28:c.T3620C:p.V1207A,LOC110384692:NM_001352000:exon28:c.T3620C:p.V1207A,C4A:NM_007293:exon28:c.T3620C:p.V1207A	.	2	1450	69	1	0	71	0.0238977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	.	.	0.0083	0.0048	0.0319	0.0050	0.0011	0.0069	0.0033	0.0043	0.0078912	1220	154602	rs28357075	0.0025	0.0039	0.0027	0.0024	0.0191	0.0025	0.0025	0.0180	0.0176	0.0008	0.0191	0.0001	0.0007	0.0009	0.0012	0.0023	0.0014	0.0019	0.0020	0.0044	0.0022	0.0018	0.0061	0.0018	0.0017	0.0051	0.0047	0.0010	0	0.0061	0	0.0008	0.0010	0	0.0022	0.0005	0.0006	0.535	0.07093	T	0.115	0.38305	T	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	-0.32	0.03561	N	1.54	0.30133	T	1.14	0.01166	N	0.023	0.01135	-0.9411	0.42442	T	0.007	0.02439	T	9	0.0054062605	0.00119	T	.	.	.	0.030	0.07022	.	.	.	.	0.06825879012703862	0.06763	.	.	.	.	.	0.002407	0.01797	T	-0.367044	0.03746	T	-0.76501	0.02935	T	0.000179680987386715	0.00001	T	0.0366963	0.00254	T	0.07769611	0.17650	0.060217388	0.11430	0.07769611	0.17650	0.060217388	0.11430	-0.219	0.00436	T	.	.	0.053	0.00291	B	.;.	.;.	-0.419880	0.02138	0.205	0.28795004747559966	0.01496	0.00543	0.02498	N	AEFDI	0.134378	0.25437	N	-2.06399544725606	0.00153	0.006570574	-1.98774875783834	0.00325	0.01435129	6.12064341257709E-4	0.07460	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.53	0.944	0.18661	-0.039000	0.12076	.	.	-2.930000	0.00155	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5083:0.1961:0.1121:0.1835	1.09	0.01558	923	0.18507	Alpha-macroglobulin complement component;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007659	0.020408	0.002725	0.000000	0.000000	0.000000	0.009202	0.011364	0.25	175.01	38	chr6	31996544	.	T	C	175.01	.	AC=3;AF=0.25;AN=12;BaseQRankSum=3.39;DP=346;ExcessHet=1.383;FS=57.608;MLEAC=3;MLEAF=0.25;MQ=58.11;MQRankSum=-8.207;QD=0.74;ReadPosRankSum=-0.554;SOR=6.091	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,6:79:32:0|1:31996539_G_C:32,0,3047:31996539	3	0	3	0
chr6	31996553	31996553	T	G	exonic	C4A;C4B;C4B_2;LOC110384692	.	nonsynonymous SNV	C4B:NM_001002029:exon28:c.T3629G:p.L1210R,C4B_2:NM_001242823:exon28:c.T3629G:p.L1210R,C4A:NM_001252204:exon28:c.T3629G:p.L1210R,LOC110384692:NM_001352000:exon28:c.T3629G:p.L1210R,C4A:NM_007293:exon28:c.T3629G:p.L1210R	.	2	1448	71	1	0	73	0.0245874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	.	0.0058	0.0056	0.0100	0.0069	0.0007	0.0063	0.0040	0.0036	3.23e-05	5	154602	rs28357076	0.0007	0.0025	0.0006	0.0007	0.0021	0.0006	0.0006	0.0017	0.0016	0.0015	0.0009	0.0002	0.0021	0.0007	0.0014	0.0005	0.0007	0.0012	0.0014	0.0042	0.0014	0.0015	0.0024	0.0013	0.0012	0.0020	0.0019	0.0024	0	0.0017	0.0006	0.0023	0.0001	0	0.0010	0.0010	0.0011	0.917	0.02327	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	-1.88	0.00248	N	1.55	0.29866	T	1.17	0.01121	N	0.065	0.06587	-0.9386	0.42837	T	0.004	0.01365	T	8	0.005549848	0.00123	T	.	.	.	0.061	0.17616	.	.	.	.	0.3103683523119763	0.30949	.	.	.	.	.	0.003124	0.02525	T	-0.653859	0.00069	T	-0.682724	0.06818	T	0.000517572450278177	0.00004	T	0.369963	0.08710	T	0.0992703	0.23427	0.069453366	0.14635	0.0992703	0.23426	0.069453366	0.14634	1.17	0.00123	T	.	.	0.045	0.00043	B	.;.	.;.	-1.765232	0.00169	0.002	0.49284754452001944	0.04184	0.00039	0.00329	N	AEFDI	0.125283	0.24172	N	-2.27395090326263	0.00052	0.002238132	-2.26176583485372	0.00081	0.003562557	0.126218125399761	0.16995	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.53	-6.54	0.01692	-0.915000	0.04142	.	.	-3.027000	0.00136	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3386:0.0:0.5066:0.1548	5.704	0.17166	923	0.18507	Alpha-macroglobulin complement component;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.058470	0.061224	0.043597	0.026596	0.100000	0.051724	0.100610	0.056818	0.25	456.03	38	chr6	31996553	.	T	G	456.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.494;DP=361;ExcessHet=1.383;FS=61.519;MLEAC=3;MLEAF=0.25;MQ=57.98;MQRankSum=-8.669;QD=1.85;ReadPosRankSum=-1.019;SOR=5.211	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,8:85:99:0|1:31996539_G_C:103,0,3201:31996539	3	0	3	0
chr6	32519649	32519654	CAACTA	-	exonic	HLA-DRB5	.	nonframeshift deletion	HLA-DRB5:NM_002125:exon3:c.371_373del:p.V124del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.676e-05	0	0	0	0	4.812e-05	0	0	5.17e-05	8	154602	rs779212605	2.889e-05	0.0065	2.774e-05	3.001e-05	8.105e-05	1.759e-05	1.438e-05	1.397e-05	1.121e-05	8.105e-05	5.291e-05	0.0002	0	3.465e-05	0	2.606e-05	3.646e-05	0	0	0.0039	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	117.5	46	chr6	32519648	.	TCAACTA	T	117.5	.	AC=2;AF=0.167;AN=12;DP=191;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=33.75;QD=28.91;SOR=2.833	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,3:3:9:1|1:32519613_T_G:135,9,0:32519613	5	1	0	0
chr6	32519649	32519649	C	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1285.79	46	chr6	32519649	.	C	*	1285.79	.	AC=2;AF=0.167;AN=12;DP=191;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=46.09;QD=29.3;SOR=2.448	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,3:3:9:1|1:32519613_T_G:135,9,0:32519613	5	1	0	0
chr6	32519650	32519650	A	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1285.79	46	chr6	32519650	.	A	*	1285.79	.	AC=2;AF=0.167;AN=12;DP=191;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=46.09;QD=37.38;SOR=2.448	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,3:3:9:1|1:32519613_T_G:135,9,0:32519613	5	1	0	0
chr6	32521970	32521970	G	0	exonic	HLA-DRB5	.	.	.	.	128	791	65	0	538	603	0.0394657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	3279.47	221	chr6	32521970	.	G	*	3279.47	.	AC=3;AF=0.3;AN=10;BaseQRankSum=3.4;DP=1298;ExcessHet=2.3007;FS=7.707;MLEAC=3;MLEAF=0.3;MQ=55.24;MQRankSum=-8.518;QD=3.33;ReadPosRankSum=-5.796;SOR=1.027	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,87:87:99:1|1:32521957_G_A:3915,262,0:32521957	3	1	1	1
chr6	32521978	32521979	GT	0	exonic	HLA-DRB5	.	.	.	.	198	662	145	14	503	676	0.115564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	3949.97	227	chr6	32521978	.	GT	*	3949.97	.	AC=3;AF=0.3;AN=10;BaseQRankSum=5.69;DP=1225;ExcessHet=0.7136;FS=4.129;MLEAC=3;MLEAF=0.3;MQ=53.85;MQRankSum=-9.209;QD=4.15;ReadPosRankSum=-5.919;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,73:73:99:1|1:32521957_G_A:3285,220,0:32521957	3	1	1	1
chr6	32522075	32522075	-	GG	exonic	HLA-DRB5	.	frameshift insertion	HLA-DRB5:NM_002125:exon2:c.199_200insCC:p.L67Sfs*14	.	192	806	396	114	14	638	0.27907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0033	0.0057	0	0.0207	0	0.0008	0	0.0020	.	.	.	rs751801113	0.0015	0.0033	0.0014	0.0017	0.0194	0.0015	0.0014	0.0182	0.0177	0.0012	0.0003	0.0021	0.0194	0.0007	0.0002	0.0003	0.0049	0.0075	0.0013	0.0041	0.0012	0.0014	0.0164	0.0011	0.0010	0.0128	0.0115	0.0012	0	0.0005	0.0019	0.0164	0.0010	0	0.0003	0.0048	0.0045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	3035.73	149	chr6	32522075	.	A	AGG	3035.73	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.021;DP=1041;ExcessHet=0;FS=13.663;MLEAC=1;MLEAF=0.083;MQ=44.11;MQRankSum=-2.565;QD=18.07;ReadPosRankSum=4.31;SOR=1.448	GT:AD:DP:GQ:PL	1/0:0,17:37:99:1542,834,783	5	0	1	0
chr6	32522078	32522079	TC	-	exonic	HLA-DRB5	.	frameshift deletion	HLA-DRB5:NM_002125:exon2:c.196_197del:p.D66Lfs*20	.	43	1462	12	1	4	18	0.00476515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	0.0058	0	0.0192	0	0.0010	0	0.0018	.	.	.	rs761987417	0.0014	0.0046	0.0013	0.0016	0.0178	0.0014	0.0013	0.0166	0.0162	0.0014	0.0004	0.0021	0.0178	0.0005	0.0002	0.0003	0.0044	0.0070	0.0008	0.0041	0.0008	0.0009	0.0113	0.0007	0.0007	0.0087	0.0077	0.0008	0	0.0003	0.0011	0.0113	0.0004	0	0.0002	0.0019	0.0030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	637.79	144	chr6	32522077	.	GTC	G	637.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.74;DP=1055;ExcessHet=0;FS=19.923;MLEAC=1;MLEAF=0.083;MQ=46.68;MQRankSum=4.58;QD=17.24;ReadPosRankSum=1.18;SOR=3.935	GT:AD:DP:GQ:PL	0/1:20,17:37:99:648,0,789	5	0	1	0
chr6	32522078	32522078	T	0	exonic	HLA-DRB5	.	.	.	.	120	1154	123	4	121	252	0.0537105	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2106.73	147	chr6	32522078	.	T	*	2106.73	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.69;DP=1077;ExcessHet=3.1439;FS=28.564;MLEAC=1;MLEAF=0.083;MQ=56.78;MQRankSum=-6.365;QD=3.05;ReadPosRankSum=-5.922;SOR=2.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:20,17:37:99:.:.:648,0,789:.	5	0	1	0
chr6	32522079	32522079	C	0	exonic	HLA-DRB5	.	.	.	.	234	112	90	627	459	1803	0.857143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	34027.1	147	chr6	32522079	.	C	*	34027.1	.	AC=1;AF=0.083;AN=12;DP=1072;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=54.43;QD=33.59;SOR=0.841	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,16:36:99:0|1:32522076_A_C:1512,840,792:32522076	5	0	1	0
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	17177.1	151	chr6	32530184	.	T	*	17177.1	.	AC=5;AF=0.417;AN=12;DP=695;ExcessHet=0;FS=3.529;MLEAC=5;MLEAF=0.417;MQ=56.32;MQRankSum=-11.56;QD=25.41;ReadPosRankSum=-3.157;SOR=0.993	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,27:27:81:1|1:32530184_T_*:1215,81,0:32530184	2	1	3	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	19791.2	150	chr6	32530185	.	T	*	19791.2	.	AC=4;AF=0.333;AN=12;DP=680;ExcessHet=0;FS=3.529;MLEAC=4;MLEAF=0.333;MQ=56.38;MQRankSum=-11.52;QD=29.5;ReadPosRankSum=-3.174;SOR=0.992	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,27:27:81:1|1:32530184_T_*:1215,81,0:32530184	3	1	2	0
chr6	32584175	32584176	CC	-	exonic	HLA-DRB1	.	frameshift deletion	HLA-DRB1:NM_002124:exon2:c.303_304del:p.A102Rfs*25	.	207	1300	14	1	0	16	0.00611621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0.0008	0	5.464e-05	0	0.0002	0.0010758	28	26028	rs67187877	0.0015	0.0041	0.0014	0.0017	0.0069	0.0015	0.0014	0.0061	0.0058	0.0031	0.0013	0.0045	0.0069	0.0014	0.0011	0.0010	0.0026	0.0033	0.0019	0.0081	0.0019	0.0019	0.0047	0.0017	0.0016	0.0028	0.0023	0.0032	0	0.0024	0.0041	0.0047	0.0008	0.0074	0.0011	0.0018	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	2601.9	168	chr6	32584174	.	GCC	G	2601.9	.	AC=4;AF=0.333;AN=12;BaseQRankSum=2.89;DP=1013;ExcessHet=0.1336;FS=33.477;MLEAC=4;MLEAF=0.333;MQ=48.5;MQRankSum=-0.856;QD=6.54;ReadPosRankSum=-5.045;SOR=2.086	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,43:43:99:1|1:32584138_A_G:1935,129,0:32584138	3	1	2	0
chr6	32584176	32584178	CCG	0	exonic	HLA-DRB1	.	.	.	.	22	858	448	187	7	829	0.323877	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	2163.51	168	chr6	32584176	.	CCG	*	2163.51	.	AC=4;AF=0.4;AN=10;BaseQRankSum=3.52;DP=1110;ExcessHet=0.7136;FS=4.954;MLEAC=4;MLEAF=0.4;MQ=48.33;MQRankSum=-0.678;QD=3.63;ReadPosRankSum=0.944;SOR=1.092	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,43:43:99:1|1:32584138_A_G:1935,129,0:32584138	2	1	2	1
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	10658.6	301	chr6	32584370	.	G	*	10658.6	.	AC=4;AF=0.333;AN=12;BaseQRankSum=3.44;DP=1462;ExcessHet=0.7136;FS=8.32;MLEAC=4;MLEAF=0.333;MQ=55;MQRankSum=-13.72;QD=7.58;ReadPosRankSum=-0.126;SOR=1.212	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,90:172:99:.:.:7312,3449,3172:.	2	0	4	0
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1141.06	247	chr6	32641444	.	G	*	1141.06	.	AC=5;AF=0.417;AN=12;DP=896;ExcessHet=0.095;FS=21.784;MLEAC=5;MLEAF=0.417;MQ=56.04;QD=1.86;SOR=1.326	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,77:77:99:1|1:32641430_C_T:3465,232,0:32641430	2	1	3	0
chr6	32641445	32641445	A	0	exonic	HLA-DQA1	.	.	.	.	478	485	97	33	429	592	0.143866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1183.06	247	chr6	32641445	.	A	*	1183.06	.	AC=5;AF=0.417;AN=12;DP=897;ExcessHet=0.095;FS=21.784;MLEAC=5;MLEAF=0.417;MQ=55.97;QD=1.93;SOR=1.335	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,77:77:99:1|1:32641430_C_T:3465,232,0:32641430	2	1	3	0
chr6	32641462	32641462	G	0	exonic	HLA-DQA1	.	.	.	.	480	493	54	16	479	565	0.0802239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1300.06	247	chr6	32641462	.	G	*	1300.06	.	AC=5;AF=0.417;AN=12;DP=930;ExcessHet=0.095;FS=19.881;MLEAC=5;MLEAF=0.417;MQ=57.02;QD=2.04;SOR=1.464	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,70:70:99:1|1:32641430_C_T:3150,211,0:32641430	2	1	3	0
chr6	32641464	32641464	T	0	exonic	HLA-DQA1	.	.	.	.	475	499	54	15	479	563	0.077634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1258.06	247	chr6	32641464	.	T	*	1258.06	.	AC=5;AF=0.417;AN=12;DP=930;ExcessHet=0.095;FS=20.275;MLEAC=5;MLEAF=0.417;MQ=57.32;QD=1.98;SOR=1.48	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,70:70:99:1|1:32641430_C_T:3150,211,0:32641430	2	1	3	0
chr6	32641501	32641501	G	0	exonic	HLA-DQA1	.	.	.	.	496	603	6	2	415	425	0.00822368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	2032.06	247	chr6	32641501	.	G	*	2032.06	.	AC=5;AF=0.417;AN=12;DP=938;ExcessHet=0.095;FS=5.105;MLEAC=5;MLEAF=0.417;MQ=57.94;QD=3.1;SOR=1.05	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,63:63:99:1|1:32641476_G_A:2835,190,0:32641476	2	1	3	0
chr6	32641522	32641522	A	0	exonic	HLA-DQA1	.	.	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	2341.06	247	chr6	32641522	.	A	*	2341.06	.	AC=5;AF=0.417;AN=12;DP=946;ExcessHet=0.095;FS=8.264;MLEAC=5;MLEAF=0.417;MQ=58.15;QD=3.58;SOR=1.196	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,70:70:99:1|1:32641476_G_A:3075,211,0:32641476	2	1	3	0
chr6	32761836	32761836	T	C	exonic	HLA-DQB2	.	nonsynonymous SNV	HLA-DQB2:NM_001198858:exon2:c.A188G:p.E63G,HLA-DQB2:NM_001300790:exon2:c.A188G:p.E63G	.	0	1474	45	3	0	51	0.0170057	.	.	.	2822947	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.137	.	.	0.00439297	0.0132	0.0031	0.0024	0.0009	0.0073	0.0198	0.0117	0.0082	0.0074902	1158	154602	rs115793818	0.0086	0.0087	0.0086	0.0087	0.0099	0.0085	0.0085	0.0091	0.0090	0.0040	0.0027	0.0304	0.0006	0.0051	0.0099	0.0092	0.0084	0.0053	0.0065	0.0065	0.0068	0.0063	0.0091	0.0062	0.0061	0.0085	0.0083	0.0029	0	0.0031	0.0288	0.0010	0.0060	0.0034	0.0091	0.0076	0.0048	0.0	0.91255	D	0.011	0.64786	D	1.0	0.90584	D	1.0	0.97372	D	0.867854	0.07157	U	1.097550	0.987679	0.24492	N	.	.	.	7.77	0.00338	T	-6.74	0.92648	D	0.425	0.46462	-0.7755	0.56553	T	0.233	0.59965	T	10	0.009718716	0.00219	T	.	.	.	0.137	0.36984	.	.	0.324986149311	0.32103	0.8822721149249012	0.88195	1.52937882776	0.87560	.	.	.	0.056207	0.30222	T	-0.422119	0.01659	T	-0.371159	0.36753	T	0.132767829360947	0.15636	T	.	.	.	.	.	.	.	.	.	.	.	-9.118	0.68453	D	.	.	0.482	0.63937	A	.;.;.	.;.;.	4.135670	0.61922	24.4	0.9960792757236383	0.74634	0.75301	0.36862	D	AEFDBCI	0.507824	0.53796	D	-0.148173745641328	0.35311	2.026715	-0.285778328430731	0.28566	1.593756	0.243303755062578	0.18596	0.634777	0.41761	0	0.643519	0.57511	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	3.48	2.26	0.27418	3.349000	0.51931	.	.	0.591000	0.32079	0.997000	0.40164	0.036000	0.21445	0.014000	0.10232	0.0:0.0:0.2068:0.7932	8.051	0.29742	940	0.13648	.;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	DXO	Heart_Left_Ventricle	.	.	rs115793818	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011983	0.005051	0.012228	0.000000	0.050000	0.000000	0.018293	0.007576	0.1667	4907.04	97	chr6	32761836	.	T	C	4907.04	.	AC=2;AF=0.167;AN=12;DP=632;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.46;SOR=0.8	GT:AD:DP:GQ:PL	1/1:0,156:156:99:4927,467,0	5	1	0	0
chr6	32847638	32847638	C	A	exonic	TAP1	.	nonsynonymous SNV	TAP1:NM_000593:exon9:c.G1778T:p.R593I,TAP1:NM_001292022:exon9:c.G1175T:p.R392I	Bare lymphocyte syndrome, type I, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.637	0.118500844777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.36113	T	0.036	0.52060	D	1.0	0.90584	D	0.998	0.88582	D	0.000040	0.55875	D	0.000000	1	0.81001	D	1.405	0.35469	L	-3.38	0.94161	D	-6.84	0.93060	D	0.678	0.68516	0.671	0.92813	D	0.785	0.92698	D	10	0.8590812	0.85118	D	0.118501	0.79856	D	0.637	0.86130	0.639	0.77579	0.938965583594	0.93833	0.8477696694232881	0.84737	2.02219592153	0.94013	0.393995434046	0.24231	T	0.497436	0.81931	T	0.299876	0.82958	D	0.192974	0.82738	D	0.963895499706268	0.66794	D	0.911709	0.68653	D	0.7979294	0.83773	0.5531495	0.74159	0.7979294	0.83775	0.5531495	0.74160	-11.03	0.79823	D	.	.	0.296	0.55201	B	.;.	.;.	5.324593	0.89363	30	0.98785451571110816	0.46206	0.89897	0.50667	D	AEFDBCI	0.419075	0.48645	N	0.584671380994192	0.72217	5.771159	0.588919519484656	0.74143	6.08729	0.999999998860644	0.74766	0.706298	0.61202	0	0.685571	0.66316	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.72	4.85	0.62375	4.652000	0.61149	.	.	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9126:0.0:0.0874	11.153	0.47699	934	0.15400	ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	149.83	35	chr6	32847638	.	C	A	149.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.017;DP=180;ExcessHet=0;FS=22.825;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.99;ReadPosRankSum=1.4;SOR=3.897	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,6:25:99:0|1:32847638_C_A:160,0,776:32847638	5	0	1	0
chr6	32847641	32847641	C	A	exonic	TAP1	.	nonsynonymous SNV	TAP1:NM_000593:exon9:c.G1775T:p.G592V,TAP1:NM_001292022:exon9:c.G1172T:p.G391V	Bare lymphocyte syndrome, type I, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.749	0.195688784512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.021	0.58089	D	0.968	0.56581	D	0.718	0.54779	P	0.004724	0.33446	N	0.137344	1	0.81001	D	1.69	0.43327	L	-3.28	0.93691	D	-2.6	0.55983	D	0.498	0.53093	0.546	0.91179	D	0.708	0.89951	D	10	0.7865186	0.78294	D	0.195689	0.86436	D	0.749	0.91371	0.675	0.81299	0.955607726167	0.95513	0.8084387549629776	0.80798	1.66538413369	0.89783	0.405148178339	0.25785	T	0.393667	0.75301	T	0.237756	0.77449	D	0.103743	0.77156	D	0.958452165126801	0.65274	D	0.954705	0.82752	D	0.5227525	0.68418	0.5888524	0.76149	0.5227525	0.68419	0.5888524	0.76150	-5.729	0.43950	T	.	.	0.266	0.59898	B	.;.	.;.	4.381783	0.67552	25.1	0.99635251567841066	0.76326	0.88844	0.48971	D	AEFDBCI	0.417454	0.48549	N	0.396727099348978	0.61245	4.322936	0.42347179233045	0.63032	4.528992	0.999999947304288	0.74766	0.706298	0.61202	0	0.685571	0.66316	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.72	4.85	0.62375	4.171000	0.58029	.	.	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8374:0.1625:0.0	12.904	0.57532	934	0.15400	ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	149.83	35	chr6	32847641	.	C	A	149.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.966;DP=180;ExcessHet=0;FS=22.825;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.99;ReadPosRankSum=1.4;SOR=3.897	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,6:25:99:0|1:32847638_C_A:160,0,776:32847638	5	0	1	0
chr6	32847642	32847642	C	A	exonic	TAP1	.	stopgain	TAP1:NM_000593:exon9:c.G1774T:p.G592X,TAP1:NM_001292022:exon9:c.G1171T:p.G391X	Bare lymphocyte syndrome, type I, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004724	0.33446	N	0.137344	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.832	0.82761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.539151	0.95413	D	0.536677	0.95345	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	9.545429	0.99055	41	0.99383970230580254	0.62024	0.89350	0.49762	D	AEFDBCI	0.059429	0.11225	N	1.0658887860174	0.97450	16.14773	0.924784729282597	0.96563	14.85378	0.999999998982987	0.74766	0.706298	0.61202	0	0.685571	0.66316	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.72	5.72	0.89380	2.071000	0.41125	.	.	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	15.387	0.74430	934	0.15400	ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	149.83	35	chr6	32847642	.	C	A	149.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.534;DP=181;ExcessHet=0;FS=22.825;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.99;ReadPosRankSum=1.43;SOR=3.897	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,6:25:99:0|1:32847638_C_A:160,0,776:32847638	5	0	1	0
chr6	33405054	33405054	T	C	exonic	KIFC1	.	nonsynonymous SNV	KIFC1:NM_002263:exon7:c.T959C:p.V320A	.	402	1105	13	2	0	17	0.00763359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00316937780823	0.0002	0.00199681	0.0010	9.649e-05	0.0006	0.0028	0	0.0007	0	0.0029	0.0009832	152	154602	rs149106445	0.0006	0.0006	0.0005	0.0007	0.0047	0.0006	0.0005	0.0033	0.0028	0.0001	0.0005	0.0038	0.0021	0	0.0047	0.0003	0.0011	0.0027	0.0004	0.0004	0.0004	0.0004	0.0031	0.0004	0.0003	0.0019	0.0015	4.81e-05	0	0.0004	0.0026	0.0014	0	0.0102	0.0003	0.0014	0.0031	0.13	0.26740	T	0.176	0.29843	T	0.016	0.17332	B	0.015	0.17295	B	0.016577	0.27944	N	0.371861	0.948109	0.37596	D	0.365	0.12025	N	1.0	0.41392	T	-1.82	0.42763	N	0.12	0.11054	-1.0574	0.12414	T	0.022	0.09330	T	10	0.008636802	0.00196	T	0.003169	0.06936	T	0.080	0.23350	.	.	0.504541157375	0.50091	0.4630334206756604	0.46222	0.481891860051	0.47163	0.637899279594	0.58265	T	0.036619	0.24171	T	-0.522888	0.00423	T	-0.528172	0.19469	T	0.00617480142371303	0.00068	T	.	.	.	0.103075996	0.24361	0.10514459	0.25270	0.103075996	0.24361	0.10514459	0.25269	-4.085	0.25068	T	.	.	0.097	0.15966	B	.	.	2.926918	0.38873	20.8	0.98247475137208662	0.39539	0.70780	0.34733	D	AEFDBCI	0.093667	0.18950	N	-0.314474572505403	0.28597	1.578677	-0.101325459073743	0.35337	2.043223	0.999978134242809	0.50053	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.43	4.26	0.49832	1.547000	0.35798	3.989000	0.40972	0.665000	0.62972	0.496000	0.26925	1.000000	0.68203	0.994000	0.71098	0.0:0.1839:0.0:0.8161	5.338	0.15274	366	0.84579	Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002723	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.1667	3707.04	33	chr6	33405054	.	T	C	3707.04	.	AC=2;AF=0.167;AN=12;DP=291;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=30.89;SOR=0.871	GT:AD:DP:GQ:PL	1/1:0,120:120:99:3727,360,0	5	1	0	0
chr6	36107459	36107459	C	T	exonic	MAPK14	.	nonsynonymous SNV	MAPK14:NM_139014:exon10:c.C767T:p.S256L	.	441	1075	5	1	0	7	0.00324525	.	.	.	3985314	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.178	0.00648304978898	7.7e-05	0.000199681	7.606e-05	0.0003	0.0004	0	0	0	0	6.933e-05	6.47e-05	10	154602	rs147327671	2.168e-05	3.078e-05	2.287e-05	2.047e-05	0.0004	1.538e-05	1.335e-05	0.0001	0.0001	0.0002	0.0003	0	5.392e-05	0	0.0004	3.728e-06	8.772e-05	2.786e-05	9.852e-05	9.844e-05	8.995e-05	0.0001	0.0003	6.004e-05	4.878e-05	0.0001	8.436e-05	0.0002	0	0.0003	0	0.0002	0	0	0	0	0	0.198	0.20532	T	0.36	0.16964	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	.	.	.	-0.09	0.64086	T	-1.11	0.28703	N	0.187	0.20395	-0.9924	0.31985	T	0.060	0.25200	T	8	0.043002993	0.03105	T	0.006483	0.17072	T	0.178	0.44724	.	.	0.600583322129	0.59740	.	.	.	.	.	.	.	.	.	.	-0.223846	0.17472	T	-0.248797	0.49935	T	0.0385381239912507	0.03428	T	0.479552	0.14466	T	.	.	.	.	.	.	.	.	-3.158	0.11975	T	.	.	0.093	0.13969	B	.	.	0.252625	0.06316	2.777	0.95402554091720748	0.26857	0.06919	0.12945	N	AEFGBI	0.016052	0.00339	N	-1.06621930904539	0.07273	0.3373651	-1.09793568175175	0.07740	0.3777329	0.999994589843534	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.96	-6.45	0.01743	-1.208000	0.03115	-6.849000	0.01291	-0.182000	0.10109	0.011000	0.18532	0.000000	0.08366	0.869000	0.41347	0.0:0.2074:0.2695:0.5231	10.382	0.43298	511	0.75131	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.1667	940.04	40	chr6	36107459	.	C	T	940.04	.	AC=2;AF=0.167;AN=12;DP=229;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.33;SOR=2.019	GT:AD:DP:GQ:PL	1/1:0,30:30:90:960,90,0	5	1	0	0
chr6	39066240	39066240	C	T	exonic	GLP1R	.	nonsynonymous SNV	GLP1R:NM_002062:exon5:c.C446T:p.T149M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550	0.127872574067	.	.	8.283e-06	0	0	0	0	1.503e-05	0	0	6.5e-06	1	154602	rs367543060	7.531e-06	8.893e-06	6.813e-06	8.256e-06	5.977e-05	4.04e-06	2.95e-06	9.9e-06	3.7e-06	5.977e-05	2.236e-05	0	2.519e-05	1.873e-05	0	3.601e-06	1.657e-05	1.16e-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	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	0.000551	0.43413	D	0.101247	0.999991	0.58761	D	3.385	0.91502	M	1.18	0.37746	T	-5.53	0.86073	D	0.881	0.87917	-0.5012	0.68607	T	0.221	0.58447	T	10	0.94713473	0.94040	D	0.127873	0.80974	D	0.550	0.81369	0.801	0.92017	0.870820795557	0.86956	0.7451890271405882	0.74464	1.35666730936	0.84197	0.66239708662	0.61752	T	0.586761	0.86551	D	0.224228	0.76177	D	0.181165	0.82060	D	0.993109464645386	0.83778	D	0.979202	0.92760	D	0.63719887	0.74681	0.65198576	0.79634	0.63719887	0.74683	0.65198576	0.79635	-8.741	0.66014	D	.	.	0.415	0.60383	A	.	.	5.389995	0.90303	31	0.9992550097421099	0.99042	0.98606	0.84623	D	AEFDBI	0.779358	0.71158	D	0.819907669839004	0.87332	9.18224	0.736853076771669	0.85172	8.501885	0.999999437412438	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.65	4.65	0.57626	7.410000	0.79281	7.527000	0.59855	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:1.0:0.0:0.0	15.795	0.78173	797	0.45241	GPCR, family 2-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1068.83	41	chr6	39066240	.	C	T	1068.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.458;DP=254;ExcessHet=0;FS=3.209;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.05;ReadPosRankSum=-1.199;SOR=0.865	GT:AD:DP:GQ:PL	0/1:30,41:71:99:1079,0,688	5	0	1	0
chr6	39357375	39357375	C	T	splicing	KIF6	NM_001289024:exon6:c.436-1G>A;NM_001289021:exon18:c.1915-1G>A;NM_001289020:exon18:c.2032-1G>A;NM_145027:exon19:c.2083-1G>A;NM_001351566:exon6:c.436-1G>A	.	.	.	419	1102	1	0	0	1	0.000453515	0.9999	0.912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.301e-05	0	8.64e-05	0	0	3.001e-05	0	6.1e-05	2.59e-05	4	154602	rs761988781	5.575e-05	5.815e-05	6.031e-05	5.115e-05	0.0002	4.571e-05	4.181e-05	0.0001	0.0001	6.011e-05	0.0002	0	2.522e-05	0	0.0002	5.615e-05	3.329e-05	2.327e-05	4.602e-05	4.596e-05	2.571e-05	6.729e-05	6.537e-05	2.11e-05	1.528e-05	7.99e-06	2.99e-06	4.821e-05	0	6.537e-05	0	0	0	0.0103	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0410516	0.57184	T	0.0762372	0.75327	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.567540	0.92191	32	0.99257739754461993	0.57088	0.88127	0.47919	D	AEFBI	.	.	.	0.880452966789985	0.90770	10.557	0.66825611397018	0.79976	7.197712	0.391048757288234	0.20047	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.960863	0.65727	4.62	4.62	0.56946	2.106000	0.41459	7.112000	0.57569	0.596000	0.33519	0.994000	0.38300	1.000000	0.68203	0.958000	0.51230	0.0:1.0:0.0:0.0	13.139	0.58844	907	0.22727	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	930.83	42	chr6	39357375	.	C	T	930.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.27;DP=264;ExcessHet=0;FS=0.9;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-1.29;SOR=0.929	GT:AD:DP:GQ:PL	0/1:36,36:72:99:941,0,851	5	0	1	0
chr6	39879377	39879377	C	A	exonic	DAAM2	.	nonsynonymous SNV	DAAM2:NM_001201427:exon14:c.C1745A:p.P582H,DAAM2:NM_015345:exon14:c.C1745A:p.P582H	.	412	1108	2	0	0	2	0.000901713	.	.	YES	1052578	Nephrotic_syndrome,_type_24|Idiopathic_multidrug-resistant_nephrotic_syndrome|DAAM2-related_disorder	MONDO:MONDO:0031008,MedGen:C5543267,OMIM:619263,Orphanet:567548|MONDO:MONDO:0035459,MedGen:C5681293,Orphanet:567550|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.285	0.0905402101808	0.0018	0.000399361	0.0013	0.0018	0.0034	0.0001	0	0.0015	0.0011	6.222e-05	0.0013519	209	154602	rs150676991	0.0016	0.0016	0.0016	0.0015	0.0106	0.0015	0.0015	0.0085	0.0077	0.0024	0.0037	0.0031	0	1.873e-05	0.0106	0.0016	0.0028	8.121e-05	0.0018	0.0018	0.0019	0.0017	0.0044	0.0016	0.0016	0.0035	0.0032	0.0023	0	0.0044	0.0032	0	0	0.0068	0.0012	0.0085	0	0.002	0.72154	D	0.001	0.83351	D	0.38	0.34363	B	0.159	0.34693	B	0.001370	0.39242	N	0.215647	0.999946	0.51968	D	0.695	0.17993	N	-1.81	0.83970	D	-1.95	0.45222	N	0.284	0.33687	-0.3869	0.72439	T	0.268	0.63929	T	10	0.007640302	0.00173	T	0.09054	0.75537	D	0.285	0.60338	.	.	0.394843243715	0.39102	0.3151895226224082	0.31431	0.254211787793	0.27987	0.366510331631	0.20331	T	0.218575	0.60994	T	-0.289319	0.09705	T	-0.186029	0.55961	T	0.0323172723303528	0.02357	T	0.688631	0.29780	T	0.15293072	0.34691	0.21806686	0.46496	0.15293072	0.34690	0.21806686	0.46495	-7.224	0.55653	T	.	.	0.084	0.11510	B	.;.;.;.	.;.;.;.	4.224526	0.63925	24.6	0.99501138588767846	0.68031	0.98292	0.81328	D	AEFDBI	0.678329	0.64273	D	0.0503878444063809	0.44161	2.695192	0.188204359391202	0.49199	3.126098	0.999999999981214	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.15	5.15	0.70287	1.869000	0.39156	5.900000	0.50875	0.596000	0.33519	0.988000	0.36536	1.000000	0.68203	0.761000	0.36181	0.0:0.9199:0.0:0.0801	13.025	0.58214	665	0.61472	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016113	0.065657	0.017663	0.000000	0.000000	0.008621	0.006098	0.000000	0.08333	798.83	34	chr6	39879377	.	C	A	798.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.519;DP=245;ExcessHet=0;FS=4.768;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=-0.13;SOR=1.322	GT:AD:DP:GQ:PL	0/1:38,32:70:99:809,0,997	5	0	1	0
chr6	40432267	40432267	C	G	exonic	LRFN2	.	nonsynonymous SNV	LRFN2:NM_020737:exon2:c.G847C:p.E283Q	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.384	0.0611415919989	.	.	3.323e-05	0	0	0	0	0	0.0011	0.0002	2.59e-05	4	154602	rs767185588	2.121e-05	2.121e-05	6.807e-06	3.576e-05	0.0003	1.52e-05	1.324e-05	0.0002	0.0002	0	0	0	0	0	0.0003	2.698e-06	1.656e-05	0.0003	2.626e-05	2.625e-05	0	5.37e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.0	0.91255	D	0.003	0.76473	D	0.999	0.77913	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.1	0.58353	M	4.26	0.02538	T	-2.9	0.60827	D	0.71	0.71321	-1.1590	0.00781	T	0.027	0.11663	T	10	0.8531865	0.84504	D	0.061142	0.68235	D	0.384	0.70112	0.828	0.93851	0.717838396926	0.71535	0.8174320254164822	0.81700	1.07930694633	0.77089	0.66363132	0.61928	T	0.572167	0.85852	D	-0.159009	0.26914	T	-0.165858	0.57822	T	0.461740087416314	0.31228	T	0.992501	0.97571	D	0.70366234	0.78258	0.57298315	0.75268	0.70366234	0.78259	0.57298315	0.75268	-9.784	0.72607	D	.	.	0.561	0.67276	A	.	.	4.683204	0.74965	26.2	0.99828905972103954	0.91112	0.98606	0.84623	D	AEFBI	0.948796	0.96080	D	0.855659448446864	0.89428	9.967748	0.833590901693912	0.92021	11.19381	0.999999999964821	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.57	5.57	0.84021	7.900000	0.86025	7.679000	0.65195	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	18.104	0.89444	946	0.12043	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	.	.	.	.	.	.	.	.	0.08333	1512.83	37	chr6	40432267	.	C	G	1512.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.1;DP=323;ExcessHet=0;FS=1.404;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=1.61;SOR=0.527	GT:AD:DP:GQ:PL	0/1:75,56:131:99:1523,0,2080	5	0	1	0
chr6	41194551	41194551	T	A	exonic	TREML2	.	nonsynonymous SNV	TREML2:NM_024807:exon3:c.A659T:p.D220V	.	423	1090	7	2	0	11	0.00502054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00466637289067	.	0.000998403	0.0012	9.825e-05	0.0004	0	0	4.54e-05	0	0.0082	0.0009638	149	154602	rs531665321	0.0006	0.0006	0.0003	0.0009	0.0095	0.0006	0.0006	0.0090	0.0088	2.987e-05	4.472e-05	0	2.519e-05	0	0.0019	3.417e-05	0.0006	0.0095	0.0003	0.0002	5.162e-05	0.0005	0.0078	0.0002	0.0002	0.0058	0.0051	0	0	0	0	0	0	0	1.474e-05	0	0.0078	0.155	0.24183	T	0.158	0.31629	T	0.017	0.17573	B	0.007	0.12992	B	0.985788	0.07870	N	1.007950	0.999999	0.08975	N	-0.345	0.03330	N	3.4	0.05642	T	0.18	0.05035	N	0.057	0.02861	-0.9042	0.47538	T	0.004	0.01400	T	10	0.0045382977	0.00094	T	0.004666	0.11566	T	0.017	0.02790	0.295	0.25881	0.152612264143	0.14878	0.3498052761955854	0.34894	0.298096867107	0.32188	0.244690015912	0.03229	T	0.001453	0.00908	T	-0.699384	0.00037	T	-0.771843	0.02708	T	0.00828773769766304	0.00100	T	0.515049	0.16594	T	0.070450164	0.15517	0.045661457	0.06193	0.070450164	0.15517	0.045661457	0.06193	-2.529	0.05983	T	.	.	0.101	0.17445	B	.	.	0.504523	0.08736	5.510	0.52225886284445622	0.04708	0.02196	0.06414	N	AEFBI	0.037214	0.05083	N	-1.13709118895634	0.05995	0.2748214	-1.16486796287329	0.06505	0.3133402	0.113165199167976	0.16702	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	3.92	0.988	0.18914	0.425000	0.21065	1.781000	0.28717	-0.249000	0.07183	0.012000	0.18695	0.065000	0.22112	0.029000	0.12982	0.1094:0.0:0.4962:0.3944	4.583	0.11663	900	0.24599	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001009	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.08333	800.83	38	chr6	41194551	.	T	A	800.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.62;DP=236;ExcessHet=0;FS=1.018;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=0.978;SOR=0.99	GT:AD:DP:GQ:PL	0/1:26,33:59:99:811,0,703	5	0	1	0
chr6	43038670	43038670	A	G	exonic	CUL7	.	nonsynonymous SNV	CUL7:NM_001168370:exon24:c.T4559C:p.L1520P,CUL7:NM_001374872:exon24:c.T4559C:p.L1520P,CUL7:NM_001374873:exon24:c.T4463C:p.L1488P,CUL7:NM_001374874:exon24:c.T4460C:p.L1487P,CUL7:NM_014780:exon24:c.T4463C:p.L1488P	3-M syndrome 1, Autosomal recessive	0	1497	25	0	0	25	0.00828089	.	.	.	300220	CUL7-related_disorder|3M_syndrome_1|not_provided	.|MONDO:MONDO:0010117,MedGen:C2678312,OMIM:273750,Orphanet:2616|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.467	.	0.0085	0.00339457	0.0084	0.0018	0.0027	0	0.0110	0.0125	0.0100	0.0031	0.0084928	1313	154602	rs41274912	0.0098	0.0098	0.0100	0.0097	0.0151	0.0097	0.0097	0.0126	0.0116	0.0016	0.0020	0.0020	0	0.0128	0.0151	0.0114	0.0079	0.0036	0.0070	0.0070	0.0071	0.0069	0.0119	0.0067	0.0065	0.0112	0.0109	0.0016	0.0143	0.0016	0.0017	0	0.0114	0.0136	0.0119	0.0047	0.0037	0.002	0.72154	D	0.003	0.76473	D	0.896	0.49324	P	0.583	0.50264	P	0.038709	0.24254	N	0.422584	0.999918	0.51042	D	2.745	0.80253	M	-0.91	0.75001	T	-3.53	0.68999	D	0.764	0.76203	-0.4551	0.70231	T	0.332	0.69910	T	10	0.021950126	0.00536	T	.	.	.	0.467	0.76222	.	.	0.876935651735	0.87573	0.7620949962863651	0.76157	0.767015281994	0.64561	0.426700025797	0.28758	T	0.763068	0.93597	D	-0.29229	0.09408	T	-0.176374	0.56858	T	0.0274856637858186	0.01613	T	0.844715	0.52235	T	0.69196945	0.77618	0.58912283	0.76163	0.7004361	0.78082	0.58912283	0.76164	-10.413	0.76346	D	0.4235947429261565	0.51196	0.531	0.67140	A	.;.	.;.	2.739269	0.35877	20.1	0.99847309441351184	0.92663	0.89040	0.49272	D	AEFDBCI	0.423610	0.48913	N	0.197473028464647	0.51079	3.291953	0.109250219779657	0.45020	2.772761	0.954881515564868	0.28156	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.77	2.26	0.27418	1.723000	0.37675	0.440000	0.18415	0.756000	0.94297	0.998000	0.41325	0.001000	0.17328	0.764000	0.36293	0.6659:0.1647:0.0:0.1694	6.008	0.18787	178	0.93097	Cullin, N-terminal|Cullin homology domain;.	PEX6|TRERF1	Skin_Sun_Exposed_Lower_leg|Whole_Blood	.	.	rs41274912	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010070	0.010101	0.014946	0.008772	0.000000	0.008621	0.009146	0.011364	0.08333	1352.83	39	chr6	43038670	.	A	G	1352.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.695;DP=295;ExcessHet=0;FS=0.738;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=-1.158;SOR=0.588	GT:AD:DP:GQ:PL	0/1:57,53:110:99:1363,0,1670	5	0	1	0
chr6	43282820	43282820	G	A	exonic	TTBK1	.	nonsynonymous SNV	TTBK1:NM_032538:exon14:c.G2080A:p.D694N	.	417	1084	21	0	0	21	0.00959342	.	.	.	2823062	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.089	0.00993938144003	0.0047	0.000998403	0.0032	0.0011	0.0014	0	0.0005	0.0048	0.0033	0.0019	0.0034993	541	154602	rs114539464	0.0044	0.0044	0.0043	0.0045	0.0104	0.0043	0.0043	0.0083	0.0075	0.0008	0.0017	0.0013	2.519e-05	0.0003	0.0104	0.0052	0.0039	0.0026	0.0028	0.0028	0.0030	0.0026	0.0054	0.0026	0.0025	0.0049	0.0048	0.0008	0	0.0009	0.0006	0.0002	9.425e-05	0.0136	0.0054	0.0019	0.0012	0.004	0.65419	D	0.467	0.12351	T	0.96	0.55278	D	0.238	0.38539	B	0.282560	0.14918	N	0.593088	0.907396	0.36322	D	-0.345	0.03330	N	0.69	0.51714	T	-0.36	0.13035	N	0.156	0.16168	-1.1009	0.03984	T	0.041	0.17615	T	10	0.0049971044	0.00107	T	0.009939	0.25878	T	0.089	0.25827	.	.	0.393344232652	0.38951	0.2833841617625029	0.28251	0.374554838699	0.38919	0.539248883724	0.44339	T	0.008008	0.07373	T	-0.609653	0.00127	T	-0.635527	0.09999	T	0.0230485877662929	0.01030	T	0.758124	0.38180	T	0.13773751	0.31880	0.17717718	0.40302	0.13773751	0.31880	0.17717718	0.40301	-4.41	0.29693	T	0.2075521503494858	0.27743	0.100	0.17232	B	.	.	3.308278	0.45448	22.1	0.99833579662536942	0.91456	0.79882	0.39674	D	AEFGBHI	0.299876	0.40881	N	0.0841739464595848	0.45726	2.824289	0.154435871464867	0.47379	2.968893	0.999991451438841	0.74766	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.12	4.12	0.47504	3.507000	0.53128	8.696000	0.78092	0.676000	0.76740	0.992000	0.37556	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	15.118	0.72094	155	0.93937	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.010101	0.013587	0.000000	0.000000	0.000000	0.009146	0.007576	0.08333	1021.83	38	chr6	43282820	.	G	A	1021.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.655;DP=261;ExcessHet=0;FS=1.893;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=-1.525;SOR=0.86	GT:AD:DP:GQ:PL	0/1:35,40:75:99:1032,0,812	5	0	1	0
chr6	44303399	44303399	G	A	exonic	AARS2	.	nonsynonymous SNV	AARS2:NM_020745:exon15:c.C2032T:p.R678W	Combined oxidative phosphorylation deficiency 8, Autosomal recessive;Leukoencephalopathy, progressive, with ovarian failure, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	370458	not_provided|Combined_oxidative_phosphorylation_defect_type_8	MedGen:C3661900|MONDO:MONDO:0013570,MedGen:C4518839,OMIM:614096,Orphanet:319504	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.258	0.103422632904	.	.	8.329e-06	0	8.666e-05	0	0	0	0	0	6.5e-06	1	154602	rs751523537	1.573e-05	1.642e-05	1.225e-05	1.925e-05	0.0002	1.048e-05	8.75e-06	9.31e-06	7.61e-06	2.987e-05	4.472e-05	0	0	0	0.0002	1.529e-05	0	2.319e-05	6.571e-06	6.567e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0.0003	0	0	0	0	0	0	0.001	0.78490	D	0.005	0.72224	D	0.991	0.64070	D	0.328	0.42011	B	0.001449	0.38980	N	0.285443	0.889534	0.81001	D	2.925	0.84406	M	-0.16	0.65378	T	-4.41	0.77391	D	0.368	0.40963	-0.8238	0.53695	T	0.141	0.46128	T	10	0.4005525	0.55536	T	0.103423	0.77745	D	0.258	0.56959	0.442	0.49811	0.829739961906	0.82812	0.528839713504094	0.52807	0.512931976714	0.49306	0.239345028996	0.02732	T	0.182496	0.53453	T	-0.123921	0.32484	T	-0.234252	0.51358	T	0.83131068944931	0.48631	D	0.831017	0.49766	T	0.14727288	0.33674	0.16932048	0.38958	0.14727288	0.33674	0.16932048	0.38957	-5.852	0.45025	T	0.5056118013478395	0.58013	0.094	0.14523	B	.	.	3.700177	0.52769	23.3	0.99876333802912187	0.95328	0.97989	0.78678	D	AEFBI	0.575424	0.57782	D	0.314449941974481	0.56888	3.85451	0.264611744936462	0.53486	3.517182	0.069296759099233	0.15486	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.17	1.96	0.25203	3.581000	0.53658	6.480000	0.55735	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.453000	0.27962	0.0657:0.1176:0.574:0.2427	6.086	0.19194	803	0.44167	Alanyl-tRNA synthetase, class IIc, core domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	517.83	39	chr6	44303399	.	G	A	517.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.38;DP=193;ExcessHet=0;FS=1.73;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.49;ReadPosRankSum=1.39;SOR=1.402	GT:AD:DP:GQ:PL	0/1:11,17:28:99:528,0,310	5	0	1	0
chr6	47016700	47016700	A	G	exonic	ADGRF1	.	nonsynonymous SNV	ADGRF1:NM_153840:exon8:c.T680C:p.I227T	.	437	1076	9	0	0	9	0.00416474	.	.	.	2344511	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.124	0.009212306201	0.0008	0.000399361	0.0008	0.0006	0.0005	0	0.0003	0.0012	0	0.0004	0.0007891	122	154602	rs147631696	0.0005	0.0005	0.0005	0.0006	0.0024	0.0005	0.0005	0.0015	0.0012	8.963e-05	0.0002	0.0026	0	0.0001	0.0024	0.0005	0.0006	0.0004	0.0006	0.0006	0.0006	0.0005	0.0009	0.0005	0.0004	0.0007	0.0006	0.0002	0	0.0005	0.0023	0	9.427e-05	0.0034	0.0009	0.0019	0	0.006	0.68238	D	0.12	0.35970	T	0.011	0.15914	B	0.014	0.16862	B	0.918331	0.08504	N	0.960190	1	0.08975	N	.	.	.	1.12	0.38718	T	-0.95	0.29727	N	0.575	0.59732	-0.9701	0.37179	T	0.053	0.22307	T	10	0.01417914	0.00299	T	0.009212	0.24201	T	0.124	0.34239	.	.	0.0846915920261	0.08053	0.3001410594602146	0.29927	0.184178322688	0.20715	0.371683657169	0.21074	T	0.005855	0.16896	T	-0.477553	0.00765	T	-0.538009	0.18493	T	0.0357376536117337	0.02934	T	0.743426	0.36288	T	0.113329835	0.26766	0.106672235	0.25668	0.113329835	0.26766	0.106672235	0.25668	-2.819	0.08360	T	.	.	0.104	0.24123	B	.;.	.;.	1.622850	0.20726	14.88	0.90673079176111115	0.19924	0.12598	0.17366	N	AEFBCI	0.361675	0.45121	N	-0.571139153170097	0.19827	1.040658	-0.60396127351175	0.19390	1.040151	0.023059671747006	0.13478	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.633917	0.49826	0	.	.	5.71	3.33	0.37245	3.380000	0.52180	8.110000	0.76588	0.756000	0.94297	0.045000	0.21207	0.991000	0.31484	0.015000	0.10482	0.8255:0.0:0.1745:0.0	7.243	0.25282	816	0.41767	SEA domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	540.83	33	chr6	47016700	.	A	G	540.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.568;DP=245;ExcessHet=0;FS=0.918;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.51;ReadPosRankSum=-1.477;SOR=0.903	GT:AD:DP:GQ:PL	0/1:43,29:72:99:551,0,954	5	0	1	0
chr6	56494012	56494012	T	C	exonic	DST	.	nonsynonymous SNV	DST:NM_015548:exon64:c.A12523G:p.K4175E,DST:NM_001374730:exon73:c.A13174G:p.K4392E,DST:NM_183380:exon74:c.A13501G:p.K4501E,DST:NM_001144770:exon75:c.A13621G:p.K4541E,DST:NM_001144769:exon77:c.A14035G:p.K4679E,DST:NM_001374729:exon78:c.A19432G:p.K6478E,DST:NM_001374722:exon83:c.A20392G:p.K6798E,DST:NM_001374734:exon83:c.A20419G:p.K6807E,DST:NM_001374736:exon83:c.A20392G:p.K6798E	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	15	1502	4	1	0	6	0.00199336	0.7613	0.464	.	954570	not_provided|Inborn_genetic_diseases|Epidermolysis_bullosa_simplex_3,_localized_or_generalized_intermediate,_with_BP230_deficiency|Hereditary_sensory_and_autonomic_neuropathy_type_6	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425,Orphanet:412181|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653,Orphanet:314381	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.264	0.0072208139392	.	0.000399361	0.0001	0.0001	8.857e-05	0	0	0.0001	0.0012	0.0004	0.0001164	18	154602	rs560268832	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	9.964e-05	0.0002	0.0002	0	0.0003	0	0	0	0.0005	0.0001	0.0002	0.0003	0.0002	0.0002	0.0001	0.0002	0.0005	0.0001	8.715e-05	0.0002	0.0002	2.405e-05	0	0.0005	0	0	0	0	0.0002	0.0005	0.0002	0.03	0.55530	D	.	.	.	0.863	0.47474	P	0.53	0.48544	P	0.000017	0.62929	D	0.000000	.	.	.	.	.	.	0.71	0.51228	T	-3.66	0.71397	D	0.853	0.87157	-0.8027	0.54985	T	0.203	0.56101	T	9	0.4870381	0.60770	T	0.007221	0.19143	T	0.264	0.57741	.	.	0.663738440163	0.66091	0.35253684350758935	0.35167	0.654754854923	0.58542	0.598420202732	0.52681	T	0.067923	0.33326	T	-0.0619279	0.42606	T	-0.00672192	0.69898	D	0.386528879404068	0.28432	T	0.976802	0.93989	D	.	.	.	.	.	.	.	.	-11.223	0.80867	D	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	3.820908	0.55171	23.6	0.99073008827528086	0.51762	0.98642	0.85044	D	AEFBI	0.925971	0.90635	D	0.681193063905235	0.78401	6.864013	0.705328904161284	0.82785	7.853415	0.999999976437788	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.645665	0.59343	0	.	.	5.87	5.87	0.94266	7.207000	0.77409	7.843000	0.70613	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.281	0.82505	160	0.93798	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	938.83	33	chr6	56494012	.	T	C	938.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.9;DP=252;ExcessHet=0;FS=1.88;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=0.818;SOR=0.501	GT:AD:DP:GQ:PL	0/1:48,36:84:99:949,0,1260	5	0	1	0
chr6	64886718	64886718	G	A	exonic	EYS	.	nonsynonymous SNV	EYS:NM_001142800:exon19:c.C2971T:p.L991F,EYS:NM_001292009:exon19:c.C2971T:p.L991F	Retinitis pigmentosa 25	1	1497	24	0	0	24	0.00795229	.	.	.	192093	Retinitis_pigmentosa_25|Optic_atrophy|Retinal_dystrophy|not_specified|Retinitis_pigmentosa|not_provided	MONDO:MONDO:0011272,MedGen:C1864446,OMIM:602772,Orphanet:791|Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.167	0.0744851416317	.	.	0.0004	0	0	0	0	0.0003	0	0.0008	9.7e-05	15	154602	rs201819948	0.0004	0.0004	0.0004	0.0004	0.0101	0.0004	0.0004	0.0080	0.0072	0.0003	0.0003	0.0023	0	2.033e-05	0.0101	0.0003	0.0009	0.0006	0.0002	0.0002	0.0002	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0	0	6.573e-05	0.0035	0	0	0.0068	0.0003	0	0.0002	0.056	0.38185	T	0.097	0.39190	T	0.356	0.33761	B	0.088	0.29688	B	.	.	.	.	0.999474	0.21134	N	1.205	0.30389	L	-2.91	0.91696	D	-1.34	0.34397	N	0.336	0.42247	-0.6871	0.61043	T	0.315	0.68504	T	9	0.04381132	0.03270	T	0.074485	0.72052	D	0.167	0.42761	.	.	0.241078983079	0.23725	0.5518934580232567	0.55115	0.00979768638769	0.00893	0.272145539522	0.06423	T	0.026573	0.19638	T	-0.345646	0.05006	T	-0.377896	0.35968	T	0.00665512794752755	0.00075	T	0.458254	0.14076	T	0.061071713	0.12605	0.066396594	0.13595	0.061071713	0.12605	0.066396594	0.13595	-4.519	0.31136	T	0.19831537238597025	0.26256	0.088	0.12985	B	.;.	.;.	0.883320	0.12567	9.094	0.98771526240813712	0.45986	0.11424	0.16625	N	AEFI	0.071038	0.14126	N	-0.975959284843479	0.09119	0.4302811	-1.00077579515748	0.09768	0.4879277	1.10563263840404E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.08	-0.107	0.12930	-0.414000	0.07179	-0.332000	0.09882	-0.114000	0.14653	0.094000	0.22667	0.000000	0.08366	0.988000	0.63387	0.1872:0.3002:0.3592:0.1534	1.643	0.02590	795	0.45444	.;EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001247	0.000000	0.000000	0.004464	0.000000	0.000000	0.000000	0.000000	0.08333	265.83	21	chr6	64886718	.	G	A	265.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.15;DP=174;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.86;ReadPosRankSum=-1.005;SOR=0.525	GT:AD:DP:GQ:PL	0/1:17,13:30:99:276,0,387	5	0	1	0
chr6	73765952	73765952	G	A	exonic	CD109	.	nonsynonymous SNV	CD109:NM_001159588:exon10:c.G899A:p.G300D,CD109:NM_001159587:exon11:c.G1130A:p.G377D,CD109:NM_133493:exon11:c.G1130A:p.G377D	.	426	1064	30	2	0	34	0.0157262	.	.	.	1936492	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.076	.	0.0055	0.00559105	0.0090	0.0012	0.0049	0	0.0212	0.0093	0.0078	0.0152	0.0084604	1308	154602	rs7741152	0.0077	0.0077	0.0075	0.0080	0.0165	0.0076	0.0076	0.0138	0.0128	0.0011	0.0059	0.0032	2.52e-05	0.0196	0.0165	0.0073	0.0080	0.0130	0.0069	0.0069	0.0063	0.0074	0.0131	0.0065	0.0064	0.0105	0.0096	0.0014	0	0.0103	0.0026	0	0.0169	0.0136	0.0083	0.0066	0.0131	0.251	0.37118	T	0.14	0.34837	T	0.99	0.63424	D	0.687	0.53665	P	0.225121	0.16047	N	0.646799	0.803527	0.29086	N	1.945	0.52268	M	1.85	0.28189	T	-3.61	0.69477	D	0.329	0.38027	-1.1034	0.03704	T	0.037	0.15770	T	10	0.003906667	0.00074	T	.	.	.	0.076	0.22200	.	.	0.494165489436	0.49052	0.45858311809435987	0.45776	0.0426313712504	0.04596	0.380707502365	0.22357	T	0.077416	0.35650	T	-0.4463	0.01187	T	-0.401532	0.33206	T	0.0257510232446633	0.01373	T	0.854015	0.55085	D	0.09098712	0.21306	0.13227315	0.31745	0.09098712	0.21306	0.13227315	0.31745	-5.307	0.40012	T	.	.	0.147	0.34602	B	.;.;.	.;.;.	2.610992	0.33913	19.48	0.94816582121608906	0.25582	0.62529	0.31809	D	AEFGBI	0.068000	0.13394	N	-0.171357638359433	0.34331	1.958243	-0.128088779677515	0.34262	1.968913	0.0351198615705181	0.14186	0.706548	0.73137	0	0.588015	0.36545	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.69	2.88	0.32617	1.785000	0.38315	5.533000	0.48851	0.676000	0.76740	0.983000	0.35670	1.000000	0.68203	0.763000	0.36255	0.2571:0.0:0.7429:0.0	7.785	0.28251	865	0.32612	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014099	0.005051	0.013587	0.014620	0.000000	0.025862	0.015244	0.015152	0.1667	633.04	34	chr6	73765952	.	G	A	633.04	.	AC=2;AF=0.167;AN=12;DP=135;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.65;SOR=1.721	GT:AD:DP:GQ:PL	1/1:0,20:20:60:653,60,0	5	1	0	0
chr6	87418396	87418396	G	C	exonic	CFAP206	.	nonsynonymous SNV	CFAP206:NM_001031743:exon7:c.G820C:p.V274L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.0107427859896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.513e-05	0.0003	1.917e-05	1.106e-05	1.991e-05	9.91e-06	8.46e-06	1.304e-05	1.113e-05	0	0	0	0	0	0	1.991e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.343	0.17857	T	0.02	0.18235	B	0.032	0.22131	B	0.098836	0.19962	N	0.536219	0.999595	0.20909	N	.	.	.	1.55	0.29866	T	-0.84	0.22944	N	0.136	0.13341	-0.9845	0.33951	T	0.016	0.06711	T	10	0.103265375	0.18974	T	0.010743	0.27620	T	0.026	0.05648	0.395	0.42099	0.0954503805726	0.09146	0.19020201639342502	0.18938	0.19954006279	0.22355	.	.	.	0.119676	0.44138	T	-0.336867	0.05608	T	-0.721662	0.04715	T	0.0796661600470543	0.09943	T	0.69863	0.30863	T	0.034879714	0.04001	0.093172565	0.21994	0.034879714	0.04001	0.093172565	0.21993	-3.521	0.16727	T	.	.	0.158	0.34949	B	.	.	0.840487	0.12120	8.673	0.80669705967739813	0.13312	0.64434	0.32406	D	AEFI	0.131428	0.25036	N	-0.974096222241832	0.09159	0.4323572	-0.954286185025139	0.10824	0.5476554	0.0029963270333614	0.09855	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.16	-6.98	0.01454	0.167000	0.16419	0.396000	0.17945	-0.241000	0.07509	0.882000	0.31029	0.767000	0.26670	0.976000	0.56436	0.1402:0.1105:0.6398:0.1095	8.727	0.33637	819	0.41190	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	162.32	43	chr6	87418396	.	G	C	162.32	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.201;DP=285;ExcessHet=0;FS=178.451;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=3.61;ReadPosRankSum=0.299;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,21:45:99:0|1:87418385_G_A:171,0,211:87418385	4	0	1	1
chr6	135036652	135036652	C	T	exonic	HBS1L	.	nonsynonymous SNV	HBS1L:NM_001145207:exon5:c.G1805A:p.S602N	.	449	1060	12	1	0	14	0.00656045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	.	0.0057	0.00199681	0.0042	0.0005	0.0098	0	0.0025	0.0072	0.0124	0.0021	0.0017917	277	154602	rs186634007	0.0096	0.0092	0.0099	0.0094	0.0117	0.0095	0.0094	0.0116	0.0115	0.0016	0.0021	0.0009	0	0.0026	0.0035	0.0117	0.0059	0.0023	0.0059	0.0058	0.0063	0.0053	0.0106	0.0055	0.0054	0.0099	0.0097	0.0018	0	0.0026	0.0006	0.0002	0.0025	0.0102	0.0106	0.0057	0.0023	0.0	0.91255	D	0.056	0.46632	T	0.112	0.26290	B	0.032	0.22131	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	-0.91	0.24460	N	0.126	0.11912	-0.9498	0.41006	T	0.076	0.30553	T	7	0.0064092875	0.00145	T	.	.	.	0.057	0.16321	.	.	0.204265027416	0.20035	.	.	.	.	.	.	.	.	.	.	-0.506359	0.00527	T	-0.487802	0.23621	T	0.060909503382093	0.07311	T	0.532847	0.17735	T	.	.	.	.	.	.	.	.	-3.916	0.22542	T	.	.	0.204	0.42891	B	.	.	2.926705	0.38873	20.8	0.98600711565450283	0.43506	0.88902	0.49059	D	AEFGBI	0.218526	0.34352	N	0.0444625448030208	0.43889	2.673064	0.19057530219018	0.49330	3.137428	0.86630103919657	0.25325	0.562547	0.31514	0	0.653731	0.59785	0	0.670488	0.60580	0	0.491896	0.07777	0	.	.	5.32	4.39	0.52211	1.658000	0.36992	2.128000	0.30762	0.594000	0.32500	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.1408:0.649:0.1361:0.074	5.943	0.18438	886	0.28090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001253	0.000000	0.000000	0.000000	0.000000	0.045455	0.011364	0.000000	0.08333	794.83	33	chr6	135036652	.	C	T	794.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.342;DP=237;ExcessHet=0;FS=4.883;MLEAC=1;MLEAF=0.083;MQ=59.91;MQRankSum=0.986;QD=12.23;ReadPosRankSum=-0.926;SOR=0.668	GT:AD:DP:GQ:PL	0/1:34,31:65:99:805,0,916	5	0	1	0
chr6	136359992	136359992	C	T	exonic	MAP7	.	nonsynonymous SNV	MAP7:NM_001198617:exon12:c.G1561A:p.A521T,MAP7:NM_001198611:exon13:c.G1798A:p.A600T,MAP7:NM_001198616:exon13:c.G1732A:p.A578T,MAP7:NM_001198608:exon14:c.G1909A:p.A637T,MAP7:NM_001198609:exon14:c.G1933A:p.A645T,MAP7:NM_001198615:exon14:c.G1798A:p.A600T,MAP7:NM_001198618:exon14:c.G1405A:p.A469T,MAP7:NM_001198619:exon14:c.G1405A:p.A469T,MAP7:NM_003980:exon14:c.G1843A:p.A615T,MAP7:NM_001198614:exon15:c.G1909A:p.A637T	.	434	1085	3	0	0	3	0.00138058	.	.	.	2820718	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.044	.	0.0011	0.00279553	0.0027	0.0003	0.0010	0	0.0051	0.0017	0.0022	0.0098	0.0024515	379	154602	rs147645484	0.0021	0.0021	0.0018	0.0023	0.0085	0.0020	0.0020	0.0080	0.0078	0.0002	0.0008	0	2.521e-05	0.0064	0.0016	0.0016	0.0016	0.0085	0.0016	0.0016	0.0014	0.0017	0.0089	0.0014	0.0014	0.0068	0.0061	0.0002	0	0.0009	0	0	0.0041	0	0.0019	0.0009	0.0089	0.322	0.15354	T	0.217	0.32568	T	0.649	0.40609	P	0.343	0.42509	B	0.064442	0.21952	N	0.386209	0.840263	0.28640	N	1.33	0.33268	L	1.85	0.24472	T	-1.05	0.27463	N	0.234	0.34767	-1.0652	0.10502	T	0.025	0.10643	T	10	0.004345447	0.00088	T	.	.	.	0.044	0.11924	.	.	0.295226631146	0.29124	0.07572818544890253	0.07508	0.147406636612	0.16629	0.335423022509	0.15751	T	0.010179	0.23553	T	-0.598542	0.00149	T	-0.626001	0.10720	T	0.0275844252984346	0.01628	T	0.841716	0.53646	T	0.03594689	0.04328	0.060091928	0.11388	0.03594689	0.04328	0.060091928	0.11388	-4.829	0.35123	T	.	.	0.074	0.06525	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.764221	0.22436	15.62	0.99394659929214446	0.62519	0.72193	0.35345	D	AEFDGBHCI	0.180231	0.30753	N	-0.162119913488043	0.34721	1.985282	-0.0327585746203623	0.38245	2.250485	0.97877865082994	0.29957	0.732398	0.92422	0	0.59043	0.45803	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	5.86	4.05	0.46415	0.179000	0.16653	0.099000	0.14623	0.545000	0.25583	0.706000	0.28683	0.831000	0.27213	0.940000	0.48062	0.0:0.8574:0.0:0.1426	12.073	0.52925	808	0.43318	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.011364	0.08333	729.83	33	chr6	136359992	.	C	T	729.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.472;DP=242;ExcessHet=0;FS=4.721;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=2.24;SOR=0.515	GT:AD:DP:GQ:PL	0/1:36,34:70:99:740,0,879	5	0	1	0
chr6	152367247	152367247	C	T	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon62:c.G9964A:p.V3322M,SYNE1:NM_182961:exon62:c.G9943A:p.V3315M	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.0258115643914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.005	0.92824	D	0.987	0.61912	D	0.794	0.57880	P	0.000028	0.55875	D	0.000000	0.999794	0.49177	D	2.36	0.67893	M	1.32	0.52642	T	-0.74	0.23590	N	0.641	0.67650	-0.7624	0.57275	T	0.244	0.61260	T	10	0.40988135	0.56151	T	0.025812	0.48759	D	0.168	0.42943	0.277	0.23004	0.702165677142	0.69958	0.2844087818107109	0.28353	0.580345339785	0.53887	0.734625935555	0.72183	T	0.258249	0.62938	T	-0.0465581	0.44969	T	-0.304654	0.44230	T	0.965863466262817	0.67401	D	0.942906	0.91141	D	0.1716836	0.37816	0.19951153	0.43837	0.1716836	0.37815	0.19951153	0.43836	-3.508	0.16543	T	.	.	0.139	0.39562	B	.;.;.;.	.;.;.;.	3.371386	0.46592	22.3	0.99890100854072661	0.96436	0.97259	0.73635	D	AEFBI	0.668553	0.63629	D	0.66129879940879	0.77100	6.610464	0.642074287015948	0.78022	6.793248	0.999992392175317	0.74766	0.475973	0.10046	0	0.563428	0.19063	0	0.547309	0.15389	0	0.528226	0.09195	0	.	.	6.17	6.17	0.99707	5.794000	0.68718	5.925000	0.51226	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.451000	0.27917	0.0:1.0:0.0:0.0	20.879	0.99870	848	0.35897	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1646.83	34	chr6	152367247	.	C	T	1646.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.621;DP=309;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=0.543;SOR=0.698	GT:AD:DP:GQ:PL	0/1:57,64:121:99:1657,0,1474	5	0	1	0
chr6	158725512	158725512	G	A	exonic	SYTL3	.	nonsynonymous SNV	SYTL3:NM_001318745:exon8:c.G112A:p.A38T,SYTL3:NM_001242395:exon9:c.G526A:p.A176T,SYTL3:NM_001009991:exon10:c.G526A:p.A176T,SYTL3:NM_001242394:exon11:c.G730A:p.A244T,SYTL3:NM_001242384:exon12:c.G730A:p.A244T	.	426	1095	1	0	0	1	0.000456413	.	.	.	3923568	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.012	0.00298635262283	.	.	1.649e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs750019874	9.577e-06	9.577e-06	5.445e-06	1.375e-05	0.0002	5.56e-06	4.35e-06	8.887e-05	7.055e-05	0	0	0	0	0	0	8.993e-07	0	0.0002	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	0.747	0.05184	T	0.001	0.15093	B	0.001	0.10090	B	0.194266	0.03272	N	1.561630	1	0.21650	N	-0.245	0.03879	N	2.2	0.18570	T	-0.12	0.08809	N	0.066	0.03841	-1.0079	0.27572	T	0.006	0.02093	T	10	0.015941828	0.00335	T	0.002986	0.06369	T	0.012	0.01476	0.201	0.11522	0.0611884634855	0.05136	0.17441694059778903	0.17360	0.0169914472874	0.01642	0.232786029577	0.02181	T	0.004091	0.03502	T	-0.548415	0.00298	T	-0.822883	0.01395	T	0.018556058620157	0.00570	T	0.69713	0.30670	T	0.021507695	0.00757	0.04442486	0.05753	0.021507695	0.00757	0.04442486	0.05753	-4.155	0.33173	T	.	.	0.063	0.01408	B	.;.;.;.	.;.;.;.	-1.040523	0.00715	0.021	0.78976651193765823	0.12535	0.00877	0.03467	N	AEFDBI	0.028114	0.02418	N	-1.36855668143443	0.02937	0.13046	-1.37725390471095	0.03496	0.1631791	0.99288302115318	0.33004	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	4.42	-5.72	0.02211	-1.393000	0.02627	-1.284000	0.05818	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.245000	0.23132	0.6552:0.0:0.2144:0.1304	7.948	0.29157	762	0.50290	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08333	649.83	34	chr6	158725512	.	G	A	649.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.546;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.78;ReadPosRankSum=-0.703;SOR=0.767	GT:AD:DP:GQ:PL	0/1:45,29:74:99:660,0,1299	5	0	1	0
chr6	158776414	158776416	CTT	-	exonic	EZR	.	nonframeshift deletion	EZR:NM_003379:exon7:c.787_789del:p.K263del,EZR:NM_001111077:exon8:c.787_789del:p.K263del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	6.841e-07	0	1.376e-06	2.52e-05	0	0	.	.	0	0	0	2.52e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	499.79	34	chr6	158776413	.	CCTT	C	499.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.638;DP=197;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.99;ReadPosRankSum=0.19;SOR=0.818	GT:AD:DP:GQ:PL	0/1:12,13:25:99:510,0,465	5	0	1	0
chr6	167315412	167315412	T	C	exonic	UNC93A	.	nonsynonymous SNV	UNC93A:NM_001143947:exon7:c.T1208C:p.V403A,UNC93A:NM_018974:exon8:c.T1334C:p.V445A	.	413	1039	70	0	0	70	0.0325885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00171249185324	.	.	0.0023	0.0020	0.0004	0.0024	0.0026	0.0029	0.0077	0.0012	7.68e-05	2	26028	rs752323292	0.0005	0.0067	0.0005	0.0005	0.0041	0.0004	0.0004	0.0036	0.0034	0.0001	2.266e-05	7.901e-05	0.0041	0.0010	0.0014	0.0003	0.0008	0.0006	0.0006	0.0063	0.0006	0.0007	0.0017	0.0005	0.0005	0.0008	0.0006	0.0004	0	0.0004	0	0.0017	0.0011	0	0.0007	0.0005	0.0014	0.755	0.03533	T	0.788	0.04220	T	0.0	0.02946	B	0.0	0.01387	B	0.029466	0.01703	N	2.657010	1	0.08975	N	-0.895	0.01383	N	3.61	0.04446	T	0.85	0.01736	N	0.022	0.00666	-0.9323	0.43799	T	0.001	0.00438	T	10	0.006008148	0.00135	T	0.001712	0.02856	T	0.047	0.12962	.	.	0.0138822411134	0.00435	0.13178615577524272	0.13103	0.284254945411	0.30848	0.244545891881	0.03215	T	0.001207	0.00701	T	-0.446715	0.01181	T	-0.879451	0.00658	T	0.00895254053920366	0.00112	T	0.0821918	0.00603	T	0.016546153	0.00205	0.036088627	0.02986	0.016546153	0.00205	0.036088627	0.02986	-3.06	0.12914	T	.	.	0.058	0.02578	B	.;.	.;.	-0.244935	0.02869	0.407	0.4228581334093004	0.03107	0.00142	0.00866	N	AEFDGBI	0.051140	0.09005	N	-1.66025916697445	0.00992	0.04303088	-1.6744461208731	0.01255	0.05655026	0.812093583063515	0.24374	0.59774	0.34471	0	0.627178	0.54094	0	0.596491	0.31596	0	0.613276	0.41899	0	.	.	3.86	-3.95	0.03844	-0.367000	0.07607	-3.275000	0.02915	-0.423000	0.05224	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3648:0.155:0.2022:0.2779	0.201	0.00135	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019553	0.017857	0.000000	0.033613	0.000000	0.017241	0.027972	0.027778	0.08333	58.83	37	chr6	167315412	.	T	C	58.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.91;DP=303;ExcessHet=0;FS=6.018;MLEAC=1;MLEAF=0.083;MQ=57.76;MQRankSum=-7.505;QD=0.78;ReadPosRankSum=0.347;SOR=1.55	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,7:75:69:0|1:167315412_T_C:69,0,2814:167315412	5	0	1	0
chr6	168664103	168664103	A	G	exonic	SMOC2	.	nonsynonymous SNV	SMOC2:NM_001166412:exon12:c.A1315G:p.N439D,SMOC2:NM_022138:exon12:c.A1348G:p.N450D	Dentin dysplasia, type I, with microdontia and misshapen teeth, Autosomal recessive	4	1504	13	1	0	15	0.00496196	.	.	.	710334	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.019	.	0.0059	0.00219649	0.0054	0.0016	0.0024	0	0.0112	0.0076	0.0067	0.0019	0.0052845	817	154602	rs118133242	0.0058	0.0058	0.0057	0.0058	0.0061	0.0057	0.0056	0.0060	0.0060	0.0007	0.0031	0.0148	0	0.0107	0.0058	0.0061	0.0056	0.0016	0.0061	0.0061	0.0062	0.0060	0.0082	0.0058	0.0057	0.0076	0.0074	0.0011	0	0.0059	0.0181	0	0.0143	0.0068	0.0082	0.0080	0.0012	0.166	0.49613	T	0.042	0.50514	D	0.034	0.36363	B	0.025	0.31211	B	0.011281	0.29595	N	0.187332	0.988284	0.24427	N	0.895	0.22405	L	1.37	0.34253	T	-0.99	0.38734	N	0.342	0.41853	-1.0596	0.11855	T	0.021	0.08824	T	10	0.006231904	0.00140	T	.	.	.	0.019	0.03383	.	.	0.3691244813	0.36518	0.1196677143027038	0.11893	0.189727535353	0.21295	0.489148974419	0.37320	T	0.027255	0.19999	T	-0.539061	0.00339	T	-0.536713	0.18621	T	0.00268472858241418	0.00028	T	0.633837	0.28590	T	0.07335905	0.16386	0.08228509	0.18768	0.06620996	0.14223	0.08228509	0.18767	-3.199	0.12468	T	.	.	0.096	0.34470	B	.;.;.	.;.;.	1.529079	0.19621	14.36	0.99333313551211133	0.59856	0.10268	0.15821	N	AEFBI	0.082443	0.16692	N	-0.565855201786278	0.19989	1.050462	-0.552206593589895	0.20748	1.119227	7.69483742683958E-4	0.07776	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	3.56	2.39	0.28492	1.086000	0.30464	1.514000	0.27045	0.756000	0.94297	0.066000	0.21956	0.000000	0.08366	0.696000	0.34018	0.8689:0.0:0.1311:0.0	5.465	0.15932	994	0.00715	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003064	0.000000	0.004087	0.014620	0.000000	0.000000	0.000000	0.003817	0.08333	156.83	20	chr6	168664103	.	A	G	156.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.83;DP=183;ExcessHet=0;FS=3.772;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=4.75;ReadPosRankSum=-1.745;SOR=0.223	GT:AD:DP:GQ:PL	0/1:25,8:33:99:167,0,688	5	0	1	0
chr6	170580067	170580067	-	T	exonic	PDCD2	.	frameshift insertion	PDCD2:NM_001363655:exon4:c.696dupA:p.H233Tfs*2,PDCD2:NM_002598:exon4:c.696dupA:p.H233Tfs*2,PDCD2:NM_001199462:exon5:c.597dupA:p.H200Tfs*2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	523.79	33	chr6	170580067	.	G	GT	523.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.59;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-0.084;SOR=0.776	GT:AD:DP:GQ:PL	0/1:19,20:39:99:534,0,503	5	0	1	0
chr7	290725	290725	C	G	exonic	FOXL3	.	nonsynonymous SNV	FOXL3:NM_001374838:exon2:c.C180G:p.D60E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1401769274	1.508e-05	0.0005	1.932e-05	1.072e-05	3.51e-05	9.85e-06	8.01e-06	1.156e-05	9.32e-06	3.51e-05	0	0	0	0	0	1.808e-05	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29690653	0.47254	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.909409	0.67928	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.48230	B	.	.	2.606792	0.33848	19.46	0.92665126009978027	0.22145	0.72915	0.35675	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999996798729429	0.74766	0.11394	0.02926	0	0.063388	0.01293	0	0.125351	0.03401	0	0.109499	0.03221	0	0.842344	0.50902	4.4	4.4	0.52402	1.910000	0.39557	1.324000	0.25623	0.445000	0.21165	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.969	0.86166	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3	131.58	14	chr7	290725	.	C	G	131.58	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.359;DP=125;ExcessHet=1.383;FS=83.886;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=-0.568;SOR=6.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:16,10:29:68:.:.:68,0,297:.	2	0	3	1
chr7	851463	851463	G	T	exonic	SUN1	.	nonsynonymous SNV	SUN1:NM_001367708:exon5:c.G171T:p.W57C,SUN1:NM_001130965:exon6:c.G738T:p.W246C,SUN1:NM_001367639:exon6:c.G282T:p.W94C,SUN1:NM_001367660:exon6:c.G588T:p.W196C,SUN1:NM_001367662:exon6:c.G588T:p.W196C,SUN1:NM_001367670:exon6:c.G588T:p.W196C,SUN1:NM_001367671:exon6:c.G588T:p.W196C,SUN1:NM_001367633:exon7:c.G738T:p.W246C,SUN1:NM_001367644:exon7:c.G672T:p.W224C,SUN1:NM_001367645:exon7:c.G699T:p.W233C,SUN1:NM_001367653:exon7:c.G738T:p.W246C,SUN1:NM_001367658:exon7:c.G88T:p.A30S,SUN1:NM_001367665:exon7:c.G738T:p.W246C,SUN1:NM_001367667:exon7:c.G699T:p.W233C,SUN1:NM_001367669:exon7:c.G765T:p.W255C,SUN1:NM_001367672:exon7:c.G738T:p.W246C,SUN1:NM_001367679:exon7:c.G699T:p.W233C,SUN1:NM_001367680:exon7:c.G672T:p.W224C,SUN1:NM_001367681:exon7:c.G786T:p.W262C,SUN1:NM_001367689:exon7:c.G699T:p.W233C,SUN1:NM_001367694:exon7:c.G738T:p.W246C,SUN1:NM_001367695:exon7:c.G660T:p.W220C,SUN1:NM_001367701:exon7:c.G672T:p.W224C,SUN1:NM_001367634:exon8:c.G738T:p.W246C,SUN1:NM_001367635:exon8:c.G392T:p.G131V,SUN1:NM_001367638:exon8:c.G849T:p.W283C,SUN1:NM_001367646:exon8:c.G870T:p.W290C,SUN1:NM_001367647:exon8:c.G783T:p.W261C,SUN1:NM_001367649:exon8:c.G783T:p.W261C,SUN1:NM_001367664:exon8:c.G849T:p.W283C,SUN1:NM_001367668:exon8:c.G783T:p.W261C,SUN1:NM_001367673:exon8:c.G870T:p.W290C,SUN1:NM_001367674:exon8:c.G936T:p.W312C,SUN1:NM_001367683:exon8:c.G822T:p.W274C,SUN1:NM_001367684:exon8:c.G897T:p.W299C,SUN1:NM_001367685:exon8:c.G849T:p.W283C,SUN1:NM_001367688:exon8:c.G822T:p.W274C,SUN1:NM_001367696:exon8:c.G849T:p.W283C,SUN1:NM_001367706:exon8:c.G870T:p.W290C,SUN1:NM_001367636:exon9:c.G981T:p.W327C,SUN1:NM_001367641:exon9:c.G1020T:p.W340C,SUN1:NM_001367643:exon9:c.G933T:p.W311C,SUN1:NM_001367651:exon9:c.G1152T:p.W384C,SUN1:NM_001367655:exon9:c.G981T:p.W327C,SUN1:NM_001367666:exon9:c.G981T:p.W327C,SUN1:NM_001367677:exon9:c.G1047T:p.W349C,SUN1:NM_001367682:exon9:c.G1020T:p.W340C,SUN1:NM_001367691:exon9:c.G981T:p.W327C,SUN1:NM_001367692:exon9:c.G1047T:p.W349C,SUN1:NM_001367693:exon9:c.G933T:p.W311C,SUN1:NM_001367697:exon9:c.G933T:p.W311C,SUN1:NM_001367698:exon9:c.G1020T:p.W340C,SUN1:NM_001367678:exon10:c.G1131T:p.W377C,SUN1:NM_001367687:exon10:c.G1131T:p.W377C,SUN1:NM_001367699:exon10:c.G1131T:p.W377C,SUN1:NM_001367703:exon10:c.G1131T:p.W377C,SUN1:NM_001367705:exon10:c.G1131T:p.W377C	.	428	1011	77	6	0	89	0.0421601	.	.	.	457959	not_provided|Emery-Dreifuss_muscular_dystrophy|SUN1-related_disorder	MedGen:C3661900|MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.074	.	0.0054	0.00658946	0.0126	0.0022	0.0054	0.0002	0.0121	0.0115	0.0169	0.0308	0.007322	1132	154602	rs142011077	0.0073	0.0073	0.0066	0.0080	0.0299	0.0072	0.0072	0.0262	0.0248	0.0012	0.0030	0.0150	0	0.0070	0.0299	0.0063	0.0087	0.0239	0.0057	0.0057	0.0058	0.0057	0.0216	0.0054	0.0053	0.0182	0.0169	0.0019	0	0.0038	0.0121	0.0002	0.0071	0.0136	0.0072	0.0076	0.0216	0.001	0.91255	D	0.003	0.83351	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.86	0.35031	T	-7.59	0.96554	D	0.816	0.81162	-0.7304	0.58943	T	0.157	0.48959	T	10	0.006855428	0.00156	T	.	.	.	0.405	0.71791	.	.	0.305926609036	0.30200	0.680900715441045	0.68029	0.569697294809	0.53141	0.468354642391	0.34454	T	0.088523	0.38176	T	-0.108454	0.35024	T	0.0890224	0.76180	D	0.0260470040623291	0.01412	T	0.827917	0.49191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347	0.58674	A	.;.;.	.;.;.	3.456626	0.48158	22.6	0.98701385503502792	0.44910	0.96153	0.67775	D	AEFDBI	0.408353	0.48007	N	0.284013217608358	0.55338	3.69789	0.158639058105796	0.47602	2.987949	0.997544138123749	0.35740	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.63	4.75	0.59954	3.226000	0.50956	4.822000	0.45127	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	0.0:0.1279:0.8721:0.0	16.949	0.86110	889	0.27310	SUN domain-containing protein 1, N-terminal;.;SUN domain-containing protein 1, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.022704	0.000000	0.016349	0.026471	0.050000	0.060345	0.033951	0.022727	0.08333	1176.83	36	chr7	851463	.	G	T	1176.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.821;DP=276;ExcessHet=0;FS=1.69;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=0.394;SOR=0.895	GT:AD:DP:GQ:PL	0/1:42,49:91:99:1187,0,1068	5	0	1	0
chr7	1440649	1440649	C	T	exonic	MICALL2	.	nonsynonymous SNV	MICALL2:NM_182924:exon8:c.G1747A:p.G583R	.	416	992	110	4	0	118	0.056137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	.	0.0058	0.00958466	0.0111	0.0014	0.0042	0.0002	0.0012	0.0092	0.0235	0.0387	0.0103815	1605	154602	rs118132501	0.0097	0.0097	0.0085	0.0108	0.0387	0.0095	0.0095	0.0376	0.0372	0.0019	0.0045	0.0214	5.038e-05	0.0018	0.0317	0.0081	0.0106	0.0387	0.0069	0.0070	0.0062	0.0077	0.0391	0.0066	0.0065	0.0345	0.0327	0.0011	0.0647	0.0083	0.0231	0	0.0016	0.0034	0.0077	0.0085	0.0391	0.01	0.56456	D	0.289	0.21078	T	0.998	0.73220	D	0.629	0.51727	P	0.785298	0.09439	N	0.854456	1	0.08975	N	0.55	0.14455	N	-0.5	0.70480	T	-2.9	0.60827	D	0.274	0.31027	-0.8680	0.50679	T	0.228	0.59372	T	10	0.003394574	0.00059	T	.	.	.	0.085	0.24743	0.254	0.19378	.	.	0.17260096805414704	0.17180	0.0127105137452	0.01221	0.354136884212	0.18529	T	0.005327	0.04780	T	-0.389267	0.02720	T	-0.304068	0.44293	T	0.0421110538412396	0.04076	T	0.717028	0.32946	T	0.07449362	0.16722	0.08943037	0.20911	0.07449362	0.16722	0.08943037	0.20911	-4.714	0.33573	T	.	.	0.185	0.40048	B	.	.	1.897278	0.24095	16.27	0.71380055128778219	0.09609	0.04398	0.09982	N	AEFGBI	0.094525	0.19111	N	-0.45859534911735	0.23449	1.259348	-0.634506495118654	0.18609	0.9948502	0.314020614395515	0.19317	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.08	2.22	0.27116	0.800000	0.26703	1.295000	0.25437	0.597000	0.34315	0.000000	0.06391	0.007000	0.19602	0.040000	0.14268	0.0:0.6189:0.1779:0.2032	4.792	0.12621	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.031219	0.000000	0.013587	0.049708	0.050000	0.025862	0.051829	0.045455	0.25	2089.03	62	chr7	1440649	.	C	T	2089.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.54;DP=272;ExcessHet=1.383;FS=0.585;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=0.332;SOR=0.635	GT:AD:DP:GQ:PL	0/1:23,34:57:99:875,0,466	3	0	3	0
chr7	5938820	5938820	T	G	exonic	RSPH10B;RSPH10B2	.	nonsynonymous SNV	RSPH10B2:NM_001099697:exon16:c.A1768C:p.M590L,RSPH10B:NM_173565:exon16:c.A1768C:p.M590L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.0109352750802	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1206477234	2.558e-05	9.351e-06	0	4.656e-05	.	9.48e-06	6.44e-06	.	.	0	0	0	0	0.0003	0	0	0	0	0	1.863e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.899	0.02430	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.08700	B	0.227462	0.15996	U	0.586539	1	0.81001	D	1.83	0.48079	L	1.01	0.41058	T	-0.11	0.08653	N	0.094	0.08646	-1.0814	0.07079	T	0.066	0.27364	T	10	0.037033826	0.02035	T	0.010935	0.28020	T	0.124	0.34239	0.383	0.40134	0.162503812791	0.15892	0.19331548203316545	0.19249	.	.	0.749081373215	0.74311	T	0.001088	0.00603	T	-0.146183	0.28910	T	-0.447758	0.27945	T	0.0526970950410469	0.05966	T	0.607939	0.22935	T	0.17443527	0.38248	0.12569885	0.30282	0.17443527	0.38248	0.12569885	0.30281	-1.77	0.02421	T	.	.	0.154	0.34138	B	.;.;.	.;.;.	2.241041	0.28615	17.86	0.46310898861828326	0.03700	0.60990	0.31354	D	AEI	0.129632	0.24788	N	-0.417687169885348	0.24848	1.344671	-0.242149101795655	0.30043	1.688191	2.69963157417864E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.51	4.51	0.54589	3.006000	0.49215	5.040000	0.46903	0.575000	0.29119	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:0.194:0.806	8.599	0.32894	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	446.7	.	chr7	5938820	.	T	G	446.7	.	AC=2;AF=0.333;AN=6;DP=64;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.5;MQ=31.38;QD=26.28;SOR=0.804	GT:AD:DP:GQ:PL	1/1:0,17:17:51:460,51,0	2	1	0	3
chr7	6036129	6036129	C	A	exonic	ANKRD61	.	nonsynonymous SNV	ANKRD61:NM_001271700:exon3:c.C1000A:p.L334I	.	431	1064	27	0	0	27	0.012529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	.	.	0.00359425	0.0056	0.0021	0.0102	0.0021	0.0141	0.0103	0.0095	0.0008	0.0020246	313	154602	rs117715040	0.0089	0.0085	0.0090	0.0087	0.0130	0.0087	0.0087	0.0106	0.0097	0.0011	0.0058	0.0141	2.798e-05	0.0146	0.0130	0.0097	0.0083	0.0008	0.0064	0.0064	0.0062	0.0067	0.0084	0.0061	0.0060	0.0078	0.0076	0.0022	0.0033	0.0041	0.0156	0.0002	0.0160	0.0408	0.0084	0.0062	0.0008	0.0	0.91255	D	0.02	0.58613	D	.	.	.	.	.	.	0.000277	0.46590	D	0.000000	0.999825	0.49512	D	2.75	0.80375	M	1.06	0.39781	T	-1.15	0.29525	N	0.431	0.47022	-0.9550	0.40096	T	0.091	0.34955	T	7	0.009520173	0.00215	T	.	.	.	0.219	0.51417	.	.	0.146414634003	0.14194	0.4042201142318326	0.40338	.	.	0.525072216988	0.42340	T	0.016966	0.13922	T	-0.250482	0.14039	T	-0.121545	0.61675	T	0.113345832179516	0.13767	T	0.522448	0.17034	T	0.43481648	0.63067	0.5732601	0.75283	0.43481648	0.63068	0.5732601	0.75284	-6.161	0.47607	T	.	.	0.171	0.37558	B	.	.	2.106957	0.26808	17.25	0.99352550740671919	0.60656	0.82184	0.41451	D	AEFBI	0.143616	0.26636	N	-0.231731538815071	0.31839	1.789343	-0.304273811030339	0.27961	1.555316	0.023710298744365	0.13526	0.372202	0.05800	0	0.546412	0.12157	0	0.463624	0.06942	0	0.714379	0.83352	0	.	.	5.49	3.71	0.41733	0.079000	0.14636	.	.	0.599000	0.40250	0.919000	0.31930	0.000000	0.08366	0.091000	0.17840	0.0:0.7441:0.0:0.2559	8.519	0.32423	692	0.58729	Ankyrin repeat-containing domain	PMS2|CCZ1B	Skin_Not_Sun_Exposed_Suprapubic|Whole_Blood	CCZ1B|CCZ1B	Adipose_Subcutaneous|Skin_Not_Sun_Exposed_Suprapubic	rs117715040	Uncertain significance	0	0	0	0	0	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	1623.83	34	chr7	6036129	.	C	A	1623.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.066;DP=297;ExcessHet=0;FS=8.226;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=-2.422;SOR=0.683	GT:AD:DP:GQ:PL	0/1:63,60:123:99:1634,0,1596	5	0	1	0
chr7	7531484	7531484	C	T	exonic	COL28A1	.	nonsynonymous SNV	COL28A1:NM_001037763:exon3:c.G545A:p.G182E	.	436	1073	13	0	0	13	0.00602131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.528	0.0296635243123	0.0007	0.000199681	0.0011	0.0002	0.0012	0	0	0.0013	0.0033	0.0020	0.0009961	154	154602	rs201967894	0.0007	0.0008	0.0007	0.0008	0.0108	0.0007	0.0007	0.0086	0.0079	0.0002	0.0010	0.0106	0	0	0.0108	0.0004	0.0018	0.0016	0.0008	0.0008	0.0008	0.0008	0.0010	0.0007	0.0007	0.0006	0.0005	0.0002	0	0.0007	0.0115	0	0	0.0034	0.0008	0.0043	0.0010	0.01	0.56456	D	0.01	0.65728	D	0.999	0.77913	D	0.977	0.73820	D	0.153103	0.17902	U	0.505872	0.999773	0.48980	D	2.24	0.63355	M	-0.07	0.63738	T	-5.44	0.85397	D	0.732	0.73285	-0.2889	0.75295	T	0.373	0.73167	T	10	0.023703396	0.00628	T	0.029664	0.52133	D	0.528	0.80067	.	.	0.463414561204	0.45969	0.605758391111315	0.60506	0.250625226812	0.27637	0.62706053257	0.56728	T	0.216551	0.57875	T	-0.0390297	0.46094	T	0.15793	0.80680	D	0.0471129754404522	0.04985	T	0.791621	0.43272	T	0.6055087	0.72987	0.69344234	0.81955	0.6055087	0.72988	0.69344234	0.81956	-9.08	0.68210	D	.	.	0.164	0.36134	B	.	.	3.902348	0.56852	23.8	0.99781899517084316	0.86867	0.94507	0.61389	D	AEFI	0.640899	0.61843	D	0.461203190935839	0.64842	4.748023	0.391503108828037	0.61040	4.298757	0.403910874983275	0.20154	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.2	3.3	0.36912	2.405000	0.44201	4.328000	0.43018	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.8455:0.1545:0.0	13.867	0.63095	793	0.45818	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.000000	0.005435	0.026316	0.000000	0.025862	0.000000	0.003788	0.08333	1243.83	38	chr7	7531484	.	C	T	1243.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.928;DP=312;ExcessHet=0;FS=0.691;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=0.773;SOR=0.804	GT:AD:DP:GQ:PL	0/1:66,52:118:99:1254,0,1880	5	0	1	0
chr7	18027551	18027551	T	G	exonic	PRPS1L1	.	nonsynonymous SNV	PRPS1L1:NM_175886:exon1:c.A232C:p.K78Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.845	.	0.0032	0.00199681	0.0013	0.0063	0.0015	0	0	0.0010	0.0033	6.056e-05	0.0011902	184	154602	rs199799262	0.0009	0.0009	0.0009	0.0008	0.0069	0.0008	0.0008	0.0062	0.0059	0.0069	0.0024	0.0069	0	0	0.0066	0.0005	0.0021	0.0006	0.0023	0.0023	0.0021	0.0024	0.0057	0.0021	0.0020	0.0051	0.0048	0.0057	0	0.0024	0.0049	0	0	0.0102	0.0007	0.0024	0.0004	0.005	0.63226	D	0.001	0.83351	D	0.994	0.66517	D	0.907	0.64423	P	.	.	.	.	.	.	.	4.25	0.98048	H	-3.18	0.93111	D	-3.15	0.64132	D	.	.	0.939	0.96230	D	0.866	0.95546	D	8	0.015219003	0.00319	T	.	.	.	0.845	0.95175	.	.	0.963857122909	0.96346	0.7712705126099573	0.77077	.	.	0.673428893089	0.63326	T	0.131451	0.94784	T	-0.142225	0.29536	T	0.0263744	0.72042	D	0.0725472100591262	0.09003	T	0.986151	0.95294	D	0.30113104	0.53006	0.28460884	0.54460	0.30113104	0.53006	0.28460884	0.54459	-11.04	0.79877	D	.	.	0.314	0.54079	B	.;.	.;.	4.287707	0.65363	24.8	0.99463156838672273	0.65892	0.95950	0.66859	D	AEFGI	0.668350	0.63616	D	0.795698620164982	0.85834	8.696626	0.7061879162773	0.82848	7.870102	0.999065487716934	0.38343	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	4.67	4.67	0.58089	5.687000	0.67883	4.906000	0.45906	-0.109000	0.15193	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	12.398	0.54726	807	0.43470	Ribose-phosphate pyrophosphokinase, N-terminal domain;Ribose-phosphate pyrophosphokinase, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.020202	0.012228	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	2687.83	34	chr7	18027551	.	T	G	2687.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.752;DP=414;ExcessHet=0;FS=6.878;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=-0.762;SOR=0.81	GT:AD:DP:GQ:PL	0/1:98,103:201:99:2698,0,2603	5	0	1	0
chr7	30446188	30446188	C	G	exonic	NOD1	.	nonsynonymous SNV	NOD1:NM_001354849:exon9:c.G2406C:p.K802N,NOD1:NM_006092:exon9:c.G2406C:p.K802N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.0689500649545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0043	0.0008	0.0007	0.0008	0.0007	0.0007	0.0008	0.0008	0.0007	4.479e-05	0.0003	2.536e-05	1.874e-05	0.0004	0.0008	0.0007	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.018	0.59732	D	0.942	0.52977	P	0.697	0.54061	P	0.000032	0.55875	D	0.190889	0.966891	0.38559	D	1.64	0.41913	L	-0.24	0.66834	T	-2.97	0.61865	D	0.635	0.64818	-0.5186	0.67966	T	0.323	0.69177	T	10	0.7050225	0.72683	D	0.06895	0.70595	D	0.177	0.44549	0.387	0.40788	0.894045435077	0.89299	0.4355661146951452	0.43473	0.617561874547	0.56189	0.462699949741	0.33681	T	0.14665	0.48435	T	-0.138881	0.30068	T	-0.43727	0.29114	T	0.985395491123199	0.76401	D	0.922508	0.71813	D	0.33777446	0.56102	0.20677517	0.44907	0.33777446	0.56102	0.20677517	0.44906	-7.6	0.58311	D	.	.	0.536	0.66190	A	.	.	4.080191	0.60688	24.2	0.99860283607025768	0.93911	0.38904	0.26093	N	AEFGBHCI	0.291813	0.40285	N	0.326417966070398	0.57508	3.918382	0.301145757670786	0.55606	3.724	0.999999999809702	0.74766	0.615465	0.37627	0	0.71359	0.82159	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.38	4.49	0.54177	1.026000	0.29708	1.366000	0.25918	0.599000	0.40250	0.992000	0.37556	0.999000	0.35428	0.998000	0.85391	0.0:0.7718:0.1502:0.078	8.934	0.34846	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	203.05	47	chr7	30446188	.	C	G	203.05	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-2.613;DP=446;ExcessHet=0.4139;FS=205.097;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=1.26;ReadPosRankSum=1.06;SOR=7.475	GT:AD:DP:GQ:PL	0/1:59,20:79:66:66,0,1414	3	0	2	1
chr7	30497739	30497739	A	T	splicing	GGCT	NM_001199815:exon3:c.443+2T>A	.	.	.	428	1092	2	0	0	2	0.000914913	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0	0	0	0	0.0011	0	0.0008	9.06e-05	14	154602	rs200273357	0.0006	0.0005	0.0006	0.0006	0.0007	0.0005	0.0005	0.0006	0.0006	0.0001	0.0002	0	0	9.41e-05	0.0004	0.0007	0.0006	0.0002	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0005	0.0004	9.664e-05	0	0.0008	0	0	9.511e-05	0	0.0003	0.0010	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.684104	0.00045	T	-0.862961	0.00812	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.785760	0.11562	8.154	0.34054803095131986	0.02062	0.05606	0.11511	N	AEFBI	.	.	.	-0.659124478389587	0.17195	0.8827393	-0.843580262278931	0.13442	0.697323	6.17210814516625E-5	0.04366	0.099367	0.02607	0	0.104858	0.03167	0	0.137589	0.03823	0	0.117559	0.03655	0	0.0971776	0.21760	3.76	-0.138	0.12807	-0.096000	0.11027	0.824000	0.21882	-0.059000	0.16651	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4875:0.2028:0.1138:0.1959	0.882	0.01157	730	0.54327	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	694.83	35	chr7	30497739	.	A	T	694.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.961;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.78;ReadPosRankSum=0.668;SOR=0.73	GT:AD:DP:GQ:PL	0/1:20,27:47:99:705,0,459	5	0	1	0
chr7	30662718	30662718	A	C	exonic	CRHR2	.	nonsynonymous SNV	CRHR2:NM_001202482:exon6:c.T670G:p.C224G,CRHR2:NM_001202483:exon6:c.T673G:p.C225G,CRHR2:NM_001883:exon6:c.T673G:p.C225G,CRHR2:NM_001202475:exon7:c.T754G:p.C252G,CRHR2:NM_001202481:exon8:c.T631G:p.C211G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00531243363901	0.0006	.	0.0002	9.628e-05	8.646e-05	0	0	0.0003	0.0011	0.0002	0.0002458	38	154602	rs149017573	0.0006	0.0006	0.0006	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0001	0.0002	0	0	0.0001	0.0002	0.0007	0.0006	0.0003	0.0003	0.0003	0.0004	0.0003	0.0008	0.0003	0.0002	0.0005	0.0004	9.649e-05	0	0.0008	0	0	9.411e-05	0	0.0004	0.0010	0.0004	0.067	0.35918	T	0.158	0.34596	T	0.001	0.07471	B	0.03	0.21741	B	0.000000	0.84330	D	0.056838	0.838291	0.28666	N	0.49	0.13296	N	1.25	0.36512	T	0.46	0.03140	N	0.442	0.48596	-1.0586	0.12108	T	0.049	0.20711	T	10	0.17576763	0.32525	T	0.005312	0.13587	T	0.081	0.23632	.	.	0.351180957027	0.34734	0.7859060926168719	0.78541	0.323203872345	0.34483	0.644778549671	0.59244	T	0.040615	0.25586	T	-0.329681	0.06136	T	-0.395184	0.33945	T	0.160204082727432	0.17887	T	0.822218	0.48193	T	0.49975657	0.67081	0.30409682	0.56439	0.49975657	0.67082	0.30409682	0.56438	-4.431	0.29975	T	.	.	0.067	0.02399	B	.;.;.;.	.;.;.;.	2.757255	0.36155	20.2	0.95353405124997226	0.26743	0.96367	0.68792	D	AEFDBI	0.894214	0.83296	D	-0.240701049012686	0.31476	1.765347	-0.0303909247378931	0.38349	2.25811	0.919423608339084	0.26601	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.4	4.24	0.49486	5.285000	0.65438	2.279000	0.31884	0.756000	0.94297	1.000000	0.71638	0.882000	0.27718	0.985000	0.61073	0.9186:0.0:0.0814:0.0	9.887	0.40437	697	0.58201	.;.;GPCR, family 2-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	724.83	38	chr7	30662718	.	A	C	724.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.579;DP=245;ExcessHet=0;FS=2.021;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=1.53;SOR=0.457	GT:AD:DP:GQ:PL	0/1:35,34:69:99:735,0,881	5	0	1	0
chr7	30912229	30912229	T	G	exonic	AQP1	.	nonsynonymous SNV	AQP1:NM_001329872:exon1:c.T320G:p.V107G,AQP1:NM_198098:exon1:c.T320G:p.V107G	.	.	.	.	.	.	.	.	.	.	.	1554024	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.838	0.221141992638	0.0014	0.000998403	0.0026	0.0004	0.0011	0	0.0038	0.0037	0.0034	0.0010	0.0026196	405	154602	rs147400857	0.0034	0.0034	0.0035	0.0033	0.0040	0.0033	0.0033	0.0039	0.0039	0.0005	0.0012	7.652e-05	0	0.0033	0.0002	0.0040	0.0029	0.0008	0.0025	0.0025	0.0025	0.0026	0.0041	0.0023	0.0022	0.0037	0.0036	0.0006	0.0186	0.0022	0	0	0.0026	0	0.0041	0.0009	0	0.002	0.72154	D	0.171	0.30339	T	1.0	0.90584	D	0.998	0.88582	D	0.000008	0.62929	D	0.063541	1	0.81001	D	1.985	0.53793	M	-2.14	0.86415	D	-2.44	0.53420	N	0.493	0.52651	0.685	0.92987	D	0.771	0.92223	D	10	0.014616966	0.00307	T	0.221142	0.87792	D	0.838	0.94914	.	.	0.941745034481	0.94113	0.8985043637516297	0.89822	1.39981356533	0.85174	.	.	.	0.79807	0.94821	D	-0.104545	0.35671	T	0.0778673	0.75435	D	0.0370450760625683	0.03163	T	0.754824	0.37774	T	0.76711977	0.81875	0.63530046	0.78709	0.76711977	0.81877	0.63530046	0.78710	-6.002	0.46296	T	0.23759192098901724	0.32177	0.383	0.58605	A	.	.	4.180834	0.62939	24.5	0.99721805978410194	0.82125	0.95886	0.66577	D	AEFGBCI	0.929719	0.91592	D	0.687877103133838	0.78839	6.95292	0.618869419246626	0.76309	6.467618	0.999999999719802	0.74766	0.582742	0.33608	0	0.59043	0.45803	0	0.602189	0.34648	0	0.620976	0.48614	0	.	.	4.46	4.46	0.53567	5.134000	0.64611	6.201000	0.54892	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.0:0.0:0.0:1.0	12.026	0.52663	877	0.30165	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	777.83	35	chr7	30912229	.	T	G	777.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.92;DP=263;ExcessHet=0;FS=8.568;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=0.596;SOR=1.708	GT:AD:DP:GQ:PL	0/1:41,29:70:99:788,0,1185	5	0	1	0
chr7	35638413	35638413	G	A	exonic	HERPUD2	.	nonsynonymous SNV	HERPUD2:NM_022373:exon6:c.C554T:p.A185V	.	433	1065	24	0	0	24	0.0111421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00830089784445	0.0003	0.000599042	0.0009	0.0002	0.0007	0	0	0.0004	0.0011	0.0045	0.0007762	120	154602	rs143548194	0.0005	0.0005	0.0004	0.0007	0.0147	0.0005	0.0005	0.0122	0.0113	0.0001	0.0005	0.0002	0	0	0.0147	0.0002	0.0010	0.0042	0.0003	0.0003	0.0003	0.0003	0.0039	0.0002	0.0002	0.0026	0.0021	2.406e-05	0	0.0002	0.0006	0	0	0.0136	0.0003	0.0005	0.0039	0.098	0.39334	T	0.589	0.11078	T	0.024	0.19075	B	0.014	0.16862	B	0.009620	0.30282	N	0.391146	0.590511	0.32452	D	1.545	0.39105	L	2.78	0.30669	T	-1.2	0.30762	N	0.137	0.13484	-1.0500	0.14397	T	0.051	0.21572	T	10	0.007558018	0.00172	T	0.008301	0.21979	T	0.048	0.13305	.	.	0.375384844437	0.37152	0.3521035654502703	0.35124	0.286700371962	0.31060	0.491807460785	0.37690	T	0.002	0.01317	T	-0.470251	0.00847	T	-0.44854	0.27859	T	0.0213379543456771	0.00837	T	0.844016	0.66491	T	0.06061559	0.12459	0.066769175	0.13724	0.06061559	0.12458	0.066769175	0.13724	-3.477	0.16111	T	.	.	0.088	0.18746	B	.;.;.;.	.;.;.;.	1.776554	0.22588	15.68	0.93043355323146437	0.22648	0.87186	0.46650	D	AEFBI	0.112113	0.22172	N	-0.568905067551693	0.19894	1.044783	-0.487702264382553	0.22491	1.221877	0.169259988860167	0.17711	0.732398	0.92422	0	0.709663	0.81188	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.04	4.15	0.47978	3.054000	0.49600	7.572000	0.60737	0.676000	0.76740	0.275000	0.25094	1.000000	0.68203	0.031000	0.13245	0.0:0.1371:0.8629:0.0	15.752	0.77765	877	0.30165	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005040	0.000000	0.001359	0.008772	0.000000	0.025862	0.003067	0.007576	0.08333	513.83	40	chr7	35638413	.	G	A	513.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.019;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-1.064;SOR=0.754	GT:AD:DP:GQ:PL	0/1:19,24:43:99:524,0,386	5	0	1	0
chr7	37740710	37740710	A	C	exonic	GPR141	.	nonsynonymous SNV	GPR141:NM_001381946:exon3:c.A317C:p.Y106S,GPR141:NM_001329993:exon4:c.A317C:p.Y106S,GPR141:NM_001329994:exon4:c.A317C:p.Y106S,GPR141:NM_181791:exon4:c.A317C:p.Y106S	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.826	0.239596203991	.	.	2.473e-05	0	0	0	0	4.497e-05	0	0	1.94e-05	3	154602	rs776331619	2.736e-06	2.736e-06	2.723e-06	2.75e-06	3.597e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.983	0.75793	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.865	0.83145	M	-0.58	0.71425	T	-5.71	0.87457	D	0.885	0.88577	0.140	0.84880	D	0.523	0.82221	D	10	0.8610076	0.85320	D	0.239596	0.88637	D	0.826	0.94466	0.531	0.63855	0.902956240734	0.90199	0.7880582711959011	0.78757	0.305313771181	0.32837	0.584404110909	0.50706	T	0.315959	0.68753	T	0.292588	0.82367	D	0.290163	0.87685	D	0.915132947507215	0.57204	D	0.823318	0.48387	T	0.9000458	0.91387	0.80819637	0.88786	0.9000458	0.91388	0.80819637	0.88786	-9.16	0.68721	D	.	.	0.549	0.67698	A	.;.	.;.	4.916613	0.80938	27.4	0.991784471097095	0.54614	0.97905	0.78016	D	AEFHCI	0.934335	0.92756	D	0.803708787921925	0.86338	8.853154	0.757412302737207	0.86709	8.977163	0.999953592258601	0.48110	0.632932	0.41330	0	0.588015	0.36545	0	0.601832	0.32385	0	0.564101	0.26826	0	.	.	5.06	5.06	0.67838	8.947000	0.92735	10.853000	0.83948	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	14.124	0.64739	936	0.14734	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1623.83	33	chr7	37740710	.	A	C	1623.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.52;DP=296;ExcessHet=0;FS=4.288;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=-0.254;SOR=0.853	GT:AD:DP:GQ:PL	0/1:64,61:125:99:1634,0,1770	5	0	1	0
chr7	39339864	39339864	C	T	exonic	POU6F2	.	nonsynonymous SNV	POU6F2:NM_001370959:exon5:c.C821T:p.A274V,POU6F2:NM_001166018:exon6:c.C734T:p.A245V,POU6F2:NM_007252:exon6:c.C734T:p.A245V	.	13	1506	3	0	0	3	0.000995025	.	.	.	722506	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.048	.	0.0045	0.00279553	0.0017	0.0161	0.0009	0	0	4.266e-05	0.0044	0.0010	0.0011061	171	154602	rs150071017	0.0004	0.0004	0.0005	0.0004	0.0139	0.0004	0.0004	0.0128	0.0124	0.0139	0.0004	3.836e-05	7.58e-05	0	0.0003	3.332e-05	0.0011	0.0006	0.0038	0.0038	0.0037	0.0038	0.0131	0.0035	0.0034	0.0122	0.0119	0.0131	0	0.0010	0	0	0	0	0	0.0024	0.0012	0.005	0.68238	D	0.275	0.24694	T	0.033	0.34646	B	0.001	0.16460	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.96	0.84701	T	-1.04	0.35194	N	0.187	0.20395	-0.8128	0.54380	T	0.220	0.58253	T	9	0.0039544106	0.00076	T	.	.	.	0.048	0.13305	.	.	0.785934030397	0.78395	0.09546483204171588	0.09478	0.126190377115	0.14226	0.429263263941	0.29107	T	0.161925	0.50638	T	-0.370826	0.03552	T	-0.293119	0.45447	T	0.00636298075322351	0.00071	T	0.644436	0.27951	T	0.062655225	0.13108	0.07989306	0.18026	0.058223747	0.11686	0.07089363	0.15117	-5.251	0.39576	T	0.12060954091623115	0.11359	0.080	0.08851	B	.;.;.;.;.	.;.;.;.;.	2.366967	0.30367	18.41	0.95941530518409068	0.28244	0.06768	0.12791	N	AEFDBI	0.074188	0.14864	N	-0.810642088931036	0.13038	0.639533	-0.845464463485598	0.13396	0.6947374	1.71354138382234E-4	0.05786	0.487112	0.14033	0	0.573888	0.26702	0	0.467745	0.07146	0	0.564101	0.26826	0	.	.	2.03	2.03	0.25714	0.690000	0.25132	0.000000	0.13247	0.530000	0.24713	0.053000	0.21524	0.136000	0.23046	0.331000	0.25224	0.3125:0.6874:0.0:0.0	5.866	0.18022	871	0.31377	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002075	0.000000	0.004076	0.003497	0.000000	0.000000	0.000000	0.000000	0.08333	836.83	35	chr7	39339864	.	C	T	836.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.32;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=0.11;SOR=0.627	GT:AD:DP:GQ:PL	0/1:30,33:63:99:847,0,668	5	0	1	0
chr7	47929528	47929528	T	G	splicing	PKD1L1	NM_138295:exon7:c.738-2A>C	.	.	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	0.9999	0.924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998781	0.21910	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.618043	0.98066	D	0.65	0.98035	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.081078	0.41449	21.4	0.9327198868132992	0.22971	0.03933	0.09325	N	AEFDGBI	.	.	.	0.319334872994312	0.57142	3.880448	-0.0287323048596155	0.38423	2.263487	0.999996328258073	0.74766	0.095506	0.02484	0	0.166317	0.03975	0	0.060301	0.00762	0	0.062806	0.01542	0	0.0951774	0.21360	3.98	2.76	0.31527	1.474000	0.35006	1.554000	0.27312	0.609000	0.47794	0.124000	0.23245	0.999000	0.35428	0.151000	0.20341	0.0:0.0:0.2237:0.7763	7.356	0.25890	830	0.39242	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	522.83	37	chr7	47929528	.	T	G	522.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.938;DP=238;ExcessHet=0;FS=3.278;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=1.26;SOR=1.519	GT:AD:DP:GQ:PL	0/1:24,19:43:99:533,0,699	5	0	1	0
chr7	48103309	48103309	A	G	exonic	UPP1	.	nonsynonymous SNV	UPP1:NM_003364:exon6:c.A334G:p.I112V,UPP1:NM_001287426:exon7:c.A334G:p.I112V,UPP1:NM_001362774:exon7:c.A334G:p.I112V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0162703173878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.068e-05	0.0005	4.533e-05	3.607e-05	6.545e-05	3.187e-05	2.855e-05	3.432e-05	3.064e-05	6.545e-05	0	0	0	0	0	4.503e-05	0.0001	1.194e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.06669	T	0.844	0.03652	T	0.005	0.12996	B	0.013	0.16460	B	0.006375	0.32080	N	0.369553	0.659061	0.48481	D	0.65	0.16133	N	-2.14	0.86415	D	-0.25	0.11008	N	0.335	0.37613	-0.8153	0.54226	T	0.370	0.72932	T	10	0.17066589	0.31743	T	0.01627	0.37444	T	0.137	0.36984	0.393	0.41770	0.494366844524	0.49069	0.6359250264121555	0.63526	0.119767800777	0.13491	0.439313769341	0.30483	T	0.150536	0.55493	T	-0.0746563	0.40579	T	-0.345015	0.39777	T	0.0481831632055793	0.05176	T	0.90391	0.67021	D	0.036912184	0.04632	0.047135282	0.06722	0.036912184	0.04631	0.047135282	0.06722	-7.212	0.55568	T	.	.	0.115	0.22933	B	.;.;.;.	.;.;.;.	1.228969	0.16235	12.41	0.69032023839716439	0.08843	0.30303	0.24048	N	AEFDGBCI	0.037360	0.05126	N	-1.18467389851375	0.05232	0.2380039	-1.17438792066289	0.06340	0.3048925	0.99999892264264	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.43	-4.68	0.03070	1.426000	0.34478	0.250000	0.16416	-0.576000	0.04747	0.702000	0.28645	0.000000	0.08366	0.986000	0.61781	0.426:0.0:0.574:0.0	14.599	0.68020	804	0.43891	Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.125	96.68	73	chr7	48103309	.	A	G	96.68	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-2.448;DP=404;ExcessHet=0;FS=39.991;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=1.18;ReadPosRankSum=-0.47;SOR=5.281	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,13:82:99:0|1:48103308_C_T:105,0,2319:48103308	3	0	1	2
chr7	50368258	50368258	C	T	exonic	IKZF1	.	nonsynonymous SNV	IKZF1:NM_001291845:exon4:c.C413T:p.A138V	Immunodeficiency, common variable, 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2742773	Acute_lymphoid_leukemia|not_provided|IKZF1-related_disorder	Human_Phenotype_Ontology:HP:0004803,Human_Phenotype_Ontology:HP:0005555,Human_Phenotype_Ontology:HP:0006721,MONDO:MONDO:0004967,MedGen:C0023449,OMIM:613065,Orphanet:513|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.119	0.00648398107326	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs541802498	0.0002	0.0002	0.0002	0.0002	0.0108	0.0001	0.0001	0.0083	0.0074	0.0001	0.0001	0	0	0	0.0108	9.462e-05	9.773e-05	9.558e-05	0.0001	0.0001	0.0001	9.415e-05	0.0002	7.58e-05	6.284e-05	0.0001	7.894e-05	0.0001	0	0	0	0	0	0.0034	0.0002	0	0	0.0	0.91255	D	.	.	.	0.107	0.26081	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.78	0.21644	N	0.086	0.06322	-1.0217	0.23162	T	0.044	0.19029	T	7	0.040712714	0.02663	T	0.006484	0.17072	T	0.119	0.33137	0.125	0.03095	0.082315109003	0.07666	.	.	.	.	.	.	.	0.067099	0.33114	T	-0.517168	0.00457	T	-0.695939	0.06050	T	0.0225006375234229	0.00965	T	0.256474	0.04006	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.53641	B	.	.	-0.715419	0.01285	0.068	0.38921415818926902	0.02654	0.00365	0.01864	N	AEFDGBI	0.038706	0.05518	N	-1.28043077984085	0.03911	0.1755919	-1.43338157960261	0.02923	0.1354314	0.999999707393444	0.74766	0.538715	0.22204	0	0.633563	0.54681	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.75	-5.29	0.02535	-1.011000	0.03763	-0.614000	0.08207	-1.126000	0.01464	0.000000	0.06391	0.001000	0.17328	0.000000	0.00833	0.2346:0.3975:0.2132:0.1546	1.526	0.02373	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1944.83	111	chr7	50368258	.	C	T	1944.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.01;DP=590;ExcessHet=0;FS=3.143;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.73;ReadPosRankSum=-0.545;SOR=0.979	GT:AD:DP:GQ:PL	0/1:57,75:132:99:1955,0,1293	5	0	1	0
chr7	50792521	50792521	G	T	exonic	GRB10	.	nonsynonymous SNV	GRB10:NM_001350815:exon1:c.C4A:p.Q2K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31939805	0.49327	T	.	.	.	.	.	.	.	.	.	0.04081014389822126	0.04026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207979	0.02486	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.33016	B	.	.	3.128861	0.42274	21.5	0.96653732378609181	0.30600	0.93541	0.58498	D	ALL	.	.	.	.	.	.	.	.	.	1.0	0.98316	0.08998	0.02334	0	0.085267	0.02369	0	0.054209	0.00285	2	0.088244	0.02422	0	0.964681	0.67975	4.22	4.22	0.49153	3.819000	0.55386	6.860000	0.56760	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	11.930	0.52123	907	0.22727	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	33.92	.	chr7	50792521	.	G	T	33.92	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-0.967;DP=9;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:33:40,0,33	2	0	1	3
chr7	67278741	67278741	A	G	exonic	SPDYE21	.	nonsynonymous SNV	SPDYE21:NM_001382715:exon1:c.A28G:p.K10E	.	541	979	2	0	0	2	0.00102041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1409910782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.323e-05	1.314e-05	0	2.711e-05	0.0002	2.2e-06	8.2e-07	.	.	0	0	6.617e-05	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	.	.	.	.	.	.	.	.	0.08333	342.83	35	chr7	67278741	.	A	G	342.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.012;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=45.48;MQRankSum=-0.095;QD=6.86;ReadPosRankSum=1.19;SOR=0.85	GT:AD:DP:GQ:PL	0/1:33,17:50:99:353,0,823	5	0	1	0
chr7	72815472	72815472	T	C	exonic	TYW1B	.	nonsynonymous SNV	TYW1B:NM_001145440:exon3:c.A145G:p.T49A	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00159744	0.0016	9.688e-05	0.0150	0	0.0008	6.005e-05	0.0011	0.0005	0.0014553	225	154602	rs184391894	0.0005	0.0005	0.0006	0.0004	0.0136	0.0005	0.0005	0.0127	0.0123	0.0003	0.0136	0	2.534e-05	0.0005	0.0007	2.881e-05	0.0004	0.0006	0.0007	0.0007	0.0006	0.0008	0.0054	0.0006	0.0005	0.0045	0.0041	0.0002	0	0.0054	0	0	0.0005	0	4.41e-05	0.0014	0.0002	.	.	.	0.545	0.09588	T	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.16447	.	.	.	.	.	.	.	0.004697293	0.00099	T	.	.	.	.	.	.	.	0.107399877778	0.10242	0.3654886115886064	0.36462	.	.	0.250639557838	0.03835	T	0.019492	0.15519	T	-0.496641	0.00597	T	-0.47449	0.25033	T	.	.	.	0.438156	0.12052	T	0.06358137	0.13404	0.16258688	0.37759	0.06358137	0.13403	0.16258688	0.37758	-4.591	0.32058	T	.	.	0.064	0.03887	B	.;.;.	.;.;.	-0.627824	0.01498	0.094	0.67558660980193574	0.08391	0.02061	0.06149	N	AEFDBI	0.034355	0.04239	N	.	.	.	.	.	.	0.00452924939631249	0.10600	0.162113	0.03585	0	0.105846	0.03286	0	0.175069	0.04249	0	0.092715	0.02821	0	.	.	2.68	-3.03	0.05100	-1.050000	0.03621	-2.949000	0.03201	-0.295000	0.06246	0.000000	0.06391	0.000000	0.08366	0.530000	0.29707	0.0:0.3622:0.1587:0.4791	5.025	0.13721	878	0.29785	.;Flavodoxin/nitric oxide synthase|Flavodoxin/nitric oxide synthase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	1592.83	34	chr7	72815472	.	T	C	1592.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.76;DP=323;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.16;MQRankSum=-3.876;QD=10.76;ReadPosRankSum=0.491;SOR=0.665	GT:AD:DP:GQ:PL	0/1:83,65:148:99:1603,0,1905	5	0	1	0
chr7	72826863	72826863	C	T	exonic	TYW1B	.	nonsynonymous SNV	TYW1B:NM_001145440:exon2:c.G127A:p.E43K	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0070	0.00738818	0.0033	0.0191	0.0156	0	0.0008	4.497e-05	0.0022	0.0005	0.0030853	477	154602	rs201638072	0.0010	0.0011	0.0012	0.0009	0.0200	0.0010	0.0010	0.0187	0.0182	0.0200	0.0145	0	2.522e-05	0.0005	0.0009	3.598e-05	0.0016	0.0006	0.0066	0.0066	0.0067	0.0066	0.0210	0.0063	0.0062	0.0198	0.0194	0.0210	0	0.0078	0	0	0.0005	0.0034	4.41e-05	0.0043	0.0002	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.36884	.	.	.	.	.	.	.	0.004748285	0.00100	T	.	.	.	.	.	.	.	0.302459207581	0.29844	0.5428715162759994	0.54212	.	.	0.32956585288	0.14869	T	0.010297	0.09311	T	-0.356574	0.04327	T	-0.269375	0.47882	T	.	.	.	0.353365	0.07952	T	0.03566698	0.04242	0.12613198	0.30381	0.03566698	0.04242	0.12613198	0.30380	-2.762	0.07839	T	.	.	0.064	0.13830	B	.;.;.	.;.;.	1.300225	0.17018	12.91	0.59324623606674343	0.06198	0.00193	0.01117	N	AEFBI	0.023712	0.01360	N	.	.	.	.	.	.	0.991762519133101	0.32601	0.162113	0.03585	0	0.079893	0.02001	0	0.175069	0.04249	0	0.088406	0.02457	0	.	.	2.62	2.62	0.30337	1.485000	0.35127	3.301000	0.37383	-0.272000	0.06708	0.995000	0.38783	1.000000	0.68203	0.015000	0.10482	0.0:0.1159:0.0:0.8841	7.081	0.24408	846	0.36215	.;Flavodoxin/nitric oxide synthase;.	.	.	.	.	.	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	0.000524	0.000000	0.001359	0.003676	0.000000	0.000000	0.000000	0.000000	0.08333	749.83	39	chr7	72826863	.	C	T	749.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.858;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.74;MQRankSum=-1.965;QD=13.39;ReadPosRankSum=-0.32;SOR=0.65	GT:AD:DP:GQ:PL	0/1:27,29:56:99:760,0,696	5	0	1	0
chr7	72864101	72864101	G	C	exonic	SPDYE7P	.	nonsynonymous SNV	SPDYE7P:NM_001382704:exon6:c.C674G:p.P225R	.	417	1103	1	0	1	2	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	.	.	.	.	.	.	.	.	0.00011	17	154602	rs182572291	0.0002	0.0003	0.0002	0.0002	0.0044	0.0002	0.0002	0.0039	0.0037	0.0002	0.0044	0	2.519e-05	0.0003	0.0004	1.71e-05	0.0003	0.0004	0.0004	0.0006	0.0004	0.0005	0.0032	0.0004	0.0003	0.0025	0.0022	0.0002	0	0.0032	0	0	0.0005	0	2.942e-05	0.0009	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	360.83	41	chr7	72864101	.	G	C	360.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.05;DP=245;ExcessHet=0;FS=3.276;MLEAC=1;MLEAF=0.083;MQ=45.22;MQRankSum=-2.02;QD=6.94;ReadPosRankSum=-0.775;SOR=1.473	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,12:52:99:0|1:72864101_G_C:371,0,1614:72864101	5	0	1	0
chr7	72864120	72864120	A	C	exonic	SPDYE7P	.	nonsynonymous SNV	SPDYE7P:NM_001382704:exon6:c.T655G:p.C219G	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00159744	.	.	.	.	.	.	.	.	0.0003458	9	26028	rs554867916	0.0003	0.0004	0.0003	0.0003	0.0052	0.0003	0.0002	0.0046	0.0044	0.0004	0.0052	0	0.0011	0.0004	0.0004	3.687e-05	0.0003	0.0005	0.0007	0.0008	0.0006	0.0007	0.0040	0.0006	0.0005	0.0032	0.0029	0.0005	0	0.0040	0	0.0006	0.0003	0	8.824e-05	0.0005	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	670.83	41	chr7	72864120	.	A	C	670.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.27;DP=264;ExcessHet=0;FS=3.686;MLEAC=1;MLEAF=0.083;MQ=49.52;MQRankSum=-0.617;QD=10.01;ReadPosRankSum=-1.988;SOR=1.185	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,23:67:99:0|1:72864101_G_C:681,0,1681:72864101	5	0	1	0
chr7	72940853	72940853	T	C	exonic	POM121	.	nonsynonymous SNV	POM121:NM_172020:exon11:c.T908C:p.I303T,POM121:NM_001257190:exon13:c.T908C:p.I303T	.	542	978	2	0	0	2	0.00102145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00145418170853	.	.	0.0006	0.0001	0.0050	0	0.0003	3.634e-05	0	0.0004	0.0003458	9	26028	rs1248996137	0.0006	0.0006	0.0006	0.0005	0.0122	0.0005	0.0005	0.0114	0.0110	0.0004	0.0122	0	7.681e-05	0.0005	0.0008	9.71e-05	0.0004	0.0008	0.0006	0.0007	0.0006	0.0006	0.0045	0.0005	0.0005	0.0036	0.0033	0.0002	0	0.0045	0	0	0.0003	0	0.0001	0.0015	0.0011	0.518	0.07307	T	0.672	0.06265	T	0.0	0.02946	B	0.0	0.01387	B	0.429746	0.04697	N	1.407060	1	0.08975	N	-1.83	0.00276	N	3.43	0.05440	T	1.96	0.00461	N	0.044	0.02759	-0.9459	0.41665	T	0.006	0.02055	T	10	0.004666209	0.00098	T	0.001454	0.02189	T	0.037	0.09474	.	.	0.0138822411134	0.00435	0.10628538105815692	0.10558	.	.	0.417625248432	0.27511	T	0.002632	0.02024	T	-0.424262	0.01607	T	-0.8472	0.00996	T	0.00450448588551297	0.00048	T	0.0310969	0.00283	T	0.01604007	0.00172	0.026646793	0.00765	0.01604007	0.00172	0.026646793	0.00765	-1.651	0.02104	T	.	.	0.068	0.03849	B	.;.;.;.;.	.;.;.;.;.	0.255380	0.06345	2.805	0.34498242501759396	0.02113	0.00073	0.00509	N	AEFI	0.015122	0.00274	N	-1.47158998175939	0.02052	0.09023613	-1.4078455549889	0.03173	0.1474844	1.01464419932089E-5	0.01202	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	3.1	1.09	0.19517	-0.298000	0.08302	1.354000	0.25830	-0.744000	0.03643	0.000000	0.06391	0.001000	0.17328	0.138000	0.19872	0.0:0.4964:0.2253:0.2783	3.259	0.06438	437	0.80299	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	238.83	22	chr7	72940853	.	T	C	238.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.9;DP=165;ExcessHet=0;FS=3.821;MLEAC=1;MLEAF=0.083;MQ=27.79;MQRankSum=-1.802;QD=10.86;ReadPosRankSum=1.65;SOR=1.609	GT:AD:DP:GQ:PL	0/1:12,10:22:99:249,0,301	5	0	1	0
chr7	73318943	73318943	C	T	exonic	TRIM50	.	nonsynonymous SNV	TRIM50:NM_001281450:exon4:c.G605A:p.R202H,TRIM50:NM_001281451:exon4:c.G605A:p.R202H,TRIM50:NM_178125:exon4:c.G605A:p.R202H	.	.	.	.	.	.	.	.	.	.	.	2274474	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.141	0.037250660556	.	0.000199681	8.245e-06	0	0	0	0	0	0	6.056e-05	3.84e-05	1	26028	rs543800440	1.3e-05	1.368e-05	9.53e-06	1.65e-05	8.963e-05	8.31e-06	6.7e-06	3.766e-05	2.662e-05	8.963e-05	0	0	0	0	0	7.195e-06	1.656e-05	8.116e-05	3.281e-05	3.281e-05	3.853e-05	2.684e-05	0.0002	1.26e-05	7.97e-06	.	.	2.405e-05	0	6.533e-05	0	0	9.411e-05	0	1.47e-05	0	0.0002	0.05	0.39575	D	0.034	0.52727	D	.	.	.	.	.	.	0.128496	0.18729	N	0.419510	1	0.08975	N	.	.	.	-0.17	0.65563	T	-1.8	0.42384	N	0.201	0.22614	-0.8901	0.48925	T	0.231	0.59645	T	10	0.11693576	0.22072	T	0.037251	0.57497	D	0.141	0.37795	0.454	0.51775	0.826545055579	0.82490	0.35755557307843183	0.35669	0.924273002003	0.71573	0.512882947922	0.40626	T	0.025319	0.18955	T	-0.222566	0.17644	T	-0.354823	0.38650	T	0.523712158203125	0.33502	D	0.813919	0.46746	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.16538	B	.;.	.;.	4.206884	0.63523	24.6	0.99894826710532048	0.96819	0.09612	0.15329	N	AEFDBHCI	0.176901	0.30413	N	-0.114558193912055	0.36758	2.129085	-0.229379035381504	0.30489	1.717078	0.986463877259578	0.31068	0.553676	0.25195	0	0.588015	0.36545	0	0.600433	0.31921	0	0.584449	0.35598	0	.	.	4.36	3.48	0.38946	0.447000	0.21428	4.554000	0.43814	0.464000	0.21668	0.001000	0.13787	1.000000	0.68203	0.976000	0.56436	0.0:0.7312:0.173:0.0958	7.17	0.24889	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	0.001127	0.000000	0.002732	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1746.83	33	chr7	73318943	.	C	T	1746.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.138;DP=333;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=58.48;MQRankSum=0.714;QD=11.49;ReadPosRankSum=-0.094;SOR=0.717	GT:AD:DP:GQ:PL	0/1:81,71:152:99:1757,0,2014	5	0	1	0
chr7	74045245	74045245	G	T	exonic	ELN	.	nonsynonymous SNV	ELN:NM_001081752:exon9:c.G463T:p.V155L,ELN:NM_001278913:exon9:c.G457T:p.V153L,ELN:NM_001278914:exon9:c.G478T:p.V160L,ELN:NM_001278917:exon9:c.G463T:p.V155L,ELN:NM_000501:exon10:c.G493T:p.V165L,ELN:NM_001081753:exon10:c.G508T:p.V170L,ELN:NM_001081754:exon10:c.G508T:p.V170L,ELN:NM_001081755:exon10:c.G493T:p.V165L,ELN:NM_001278912:exon10:c.G493T:p.V165L,ELN:NM_001278915:exon10:c.G493T:p.V165L,ELN:NM_001278916:exon10:c.G493T:p.V165L,ELN:NM_001278939:exon10:c.G493T:p.V165L	Cutis laxa, AD, Autosomal dominant;Supravalvar aortic stenosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	190789	not_provided|not_specified|Supravalvar_aortic_stenosis	MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500,Orphanet:3193	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.245	.	0.0065	0.00539137	0.0016	0.0163	0.0023	0	0	1.508e-05	0	6.061e-05	0.00152	235	154602	rs61734581	0.0005	0.0005	0.0006	0.0004	0.0152	0.0004	0.0004	0.0141	0.0137	0.0152	0.0016	0	0	0	0.0007	3.058e-05	0.0013	2.319e-05	0.0044	0.0044	0.0044	0.0043	0.0151	0.0041	0.0040	0.0141	0.0137	0.0151	0	0.0017	0	0	0	0	2.939e-05	0.0052	0.0002	0.036	0.91255	D	0.532	0.16914	T	0.99	0.63424	D	0.971	0.72444	D	.	.	.	.	0.854257	0.81001	D	1.7	0.43825	L	-1.01	0.76168	T	-1.23	0.54059	N	0.801	0.83371	-0.1210	0.79611	T	0.369	0.72864	T	9	0.008381695	0.00190	T	.	.	.	0.245	0.55201	0.144	0.04746	0.855917407964	0.85452	0.6749768984011361	0.67435	0.179054877184	0.20141	0.637444496155	0.58200	T	0.234468	0.80866	T	-0.255758	0.13400	T	-0.127181	0.61208	T	0.0343182204004223	0.02692	T	0.955504	0.87125	D	0.08658344	0.20131	0.23760779	0.49063	0.095377706	0.22446	0.21987575	0.46741	-6.541	0.52283	T	.	.	0.835	0.82201	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.218162	0.63779	24.6	0.99138879978162275	0.53464	0.76381	0.37456	D	AEFDBCI	0.719774	0.67055	D	0.50126892716182	0.67164	5.045435	0.439662707290235	0.64055	4.652215	0.999991117418351	0.74766	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.562822	0.20929	0	.	.	3.75	3.75	0.42236	5.691000	0.67911	11.672000	0.94114	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.926000	0.46234	0.0:0.0:1.0:0.0	11.259	0.48306	929	0.16858	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001554	0.005051	0.001359	0.006993	0.000000	0.000000	0.000000	0.000000	0.08333	389.83	34	chr7	74045245	.	G	T	389.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.45;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.51;ReadPosRankSum=0.294;SOR=0.853	GT:AD:DP:GQ:PL	0/1:25,16:41:99:400,0,547	5	0	1	0
chr7	74051926	74051926	G	A	exonic	ELN	.	nonsynonymous SNV	ELN:NM_001278913:exon14:c.G784A:p.V262I,ELN:NM_001278918:exon14:c.G760A:p.V254I,ELN:NM_001081752:exon16:c.G862A:p.V288I,ELN:NM_001278914:exon16:c.G877A:p.V293I,ELN:NM_001278916:exon16:c.G850A:p.V284I,ELN:NM_001278917:exon16:c.G862A:p.V288I,ELN:NM_000501:exon17:c.G892A:p.V298I,ELN:NM_001081753:exon17:c.G907A:p.V303I,ELN:NM_001081754:exon17:c.G907A:p.V303I,ELN:NM_001081755:exon17:c.G892A:p.V298I,ELN:NM_001278912:exon17:c.G892A:p.V298I,ELN:NM_001278915:exon17:c.G892A:p.V298I,ELN:NM_001278939:exon17:c.G892A:p.V298I	Cutis laxa, AD, Autosomal dominant;Supravalvar aortic stenosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	240167	not_provided|Supravalvar_aortic_stenosis|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500,Orphanet:3193|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.063	.	0.0045	0.00379393	0.0012	0.0120	0.0016	0	0	3.009e-05	0	6.056e-05	0.0011449	177	154602	rs41526244	0.0004	0.0004	0.0004	0.0004	0.0116	0.0004	0.0004	0.0106	0.0102	0.0116	0.0012	0	2.519e-05	0	0.0003	7.644e-05	0.0010	3.478e-05	0.0032	0.0032	0.0033	0.0032	0.0110	0.0030	0.0029	0.0102	0.0099	0.0110	0	0.0012	0	0	0	0	8.821e-05	0.0028	0.0002	0.084	0.91255	T	0.389	0.16086	T	0.468	0.36503	P	0.055	0.29615	B	.	.	.	.	1	0.08975	N	1.67	0.42885	L	1.33	0.50459	T	-0.49	0.21429	N	0.146	0.20262	-1.0648	0.10596	T	0.049	0.20789	T	9	0.0060070157	0.00135	T	.	.	.	0.063	0.18251	.	.	0.324161360171	0.32030	0.29908644609894547	0.29821	0.146451787718	0.16529	0.473534047604	0.35167	T	0.106466	0.51007	T	-0.50023	0.00570	T	-0.480934	0.24347	T	0.0255454487646816	0.01344	T	0.565243	0.28519	T	0.04083208	0.05902	0.117289014	0.28313	0.032090537	0.03170	0.109833546	0.26476	-6.478	0.50961	T	.	.	0.176	0.39134	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.044574	0.25992	16.96	0.96768793729317493	0.31027	0.08612	0.14517	N	AEFDGBHCI	0.423620	0.48913	N	-0.41638097091693	0.24894	1.347478	-0.408742334105479	0.24741	1.356503	0.999999999999981	0.74766	0.516213	0.21343	1	0.615948	0.52940	0	0.651303	0.49530	0	0.584449	0.35598	0	.	.	4.98	4.98	0.65679	3.271000	0.51311	7.238000	0.57892	0.661000	0.55757	0.142000	0.23535	0.999000	0.35428	0.020000	0.11549	0.0:0.0:1.0:0.0	13.831	0.62876	923	0.18507	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002518	0.010101	0.001359	0.008772	0.000000	0.000000	0.000000	0.000000	0.08333	400.83	42	chr7	74051926	.	G	A	400.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.014;DP=244;ExcessHet=0;FS=1.259;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=-0.569;SOR=0.394	GT:AD:DP:GQ:PL	0/1:24,17:41:99:411,0,590	5	0	1	0
chr7	75399067	75399067	A	G	exonic	TRIM73;TRIM74	.	nonsynonymous SNV	TRIM74:NM_001317815:exon2:c.A134G:p.Y45C,TRIM74:NM_198853:exon2:c.A134G:p.Y45C,TRIM73:NM_198924:exon2:c.A134G:p.Y45C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.310	0.00784651200563	.	.	0.0001	0	0	0	0.0008	0.0001	0	0	.	.	.	rs782671348	4.317e-05	4.583e-05	3.681e-05	4.959e-05	3.782e-05	3.448e-05	3.134e-05	2.831e-05	2.51e-05	0	0	0.0002	0	0.0002	0	3.782e-05	6.637e-05	1.163e-05	7.611e-05	9.267e-05	8.047e-05	7.146e-05	0.0002	4.176e-05	3.277e-05	8.257e-05	6.348e-05	0	0	0	0	0	0.0001	0	0.0002	0	0	0.062	0.36912	T	0.181	0.29740	T	0.0	0.02946	B	0.0	0.01387	B	0.067692	0.02214	N	1.925500	1	0.08975	N	0.17	0.09006	N	-2.06	0.85875	D	-0.93	0.24898	N	0.093	0.07262	-0.7396	0.58473	T	0.326	0.69479	T	10	0.030756503	0.01204	T	0.007847	0.20824	T	0.310	0.63162	0.468	0.54052	0.185906805712	0.18197	0.07387235953152373	0.07324	.	.	0.376641988754	0.21779	T	0.008119	0.07471	T	-0.257219	0.13227	T	-0.487273	0.23677	T	0.0290521766826568	0.01845	T	0.142686	0.01160	T	0.058993004	0.11937	0.054354105	0.09333	0.058993004	0.11936	0.054354105	0.09333	-1.135	0.01162	T	.	.	0.075	0.05800	B	.;.;.;.	.;.;.;.	0.650452	0.10190	6.929	0.59251181270819075	0.06181	0.00212	0.01206	N	AEFBI	0.030826	0.03178	N	-1.39079706746354	0.02724	0.1206689	-1.42983586641624	0.02958	0.1370721	0.968185849688409	0.29033	0.638212	0.43195	0	0.670034	0.63936	0	0.667716	0.60424	0	0.620846	0.47308	0	.	.	2.31	-0.717	0.10644	-0.060000	0.11669	0.496000	0.18948	-1.049000	0.01645	0.000000	0.06391	0.004000	0.18990	0.017000	0.10941	0.5306:0.0:0.4694:0.0	6.727	0.22549	940	0.13648	RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type|Zinc finger, RING-type;RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type|Zinc finger, RING-type;RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type|Zinc finger, RING-type;RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type|Zinc finger, RING-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	435.83	42	chr7	75399067	.	A	G	435.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.003;DP=300;ExcessHet=0;FS=2.835;MLEAC=1;MLEAF=0.083;MQ=33.51;MQRankSum=-0.252;QD=3.6;ReadPosRankSum=-0.597;SOR=0.438	GT:AD:DP:GQ:PL	0/1:91,30:121:99:446,0,2185	5	0	1	0
chr7	76533955	76533955	G	A	exonic	SPDYE16	.	nonsynonymous SNV	SPDYE16:NM_001351597:exon5:c.C800T:p.A267V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs1244316431	6.402e-05	0.0002	6.972e-05	5.83e-05	0.0012	5.198e-05	4.803e-05	0.0009	0.0008	0	0.0012	4.844e-05	0	2.146e-05	0.0003	1.865e-05	0.0001	0.0001	1.087e-05	6.365e-05	0	2.224e-05	4.934e-05	0	0	.	.	4.934e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.531	0.18560	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.1	0.08227	.	.	.	.	.	.	.	0.08647102	0.14701	T	.	.	.	.	.	.	.	.	.	0.012609640500810659	0.01219	.	.	.	.	.	0.045584	0.27166	T	.	.	.	.	.	.	.	.	.	0.142786	0.01162	T	0.050287347	0.09062	0.11905638	0.28737	0.050287347	0.09061	0.11905638	0.28737	-3.893	0.22197	T	.	.	0.110	0.28261	B	.;.;.	.;.;.	-0.027104	0.04097	0.965	0.70823601631824495	0.09423	0.00129	0.00800	N	AEFI	.	.	.	.	.	.	.	.	.	1.24886946467749E-6	0.01202	0.078448	0.01964	0	0.097471	0.02872	0	0.078618	0.02440	0	0.101684	0.03063	0	0.0448725	0.03863	0.376	0.376	0.15424	-0.513000	0.06389	-0.111000	0.11829	-0.954000	0.02017	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	904	0.23766	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	96.22	4	chr7	76533955	.	G	A	96.22	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.067;DP=117;ExcessHet=0;FS=12.175;MLEAC=1;MLEAF=0.083;MQ=27.54;MQRankSum=-3.067;QD=8.75;ReadPosRankSum=0.349;SOR=0.587	GT:AD:DP:GQ:PL	0/1:6,5:11:99:106,0,170	5	0	1	0
chr7	87452957	87452957	T	C	exonic	ABCB4	.	nonsynonymous SNV	ABCB4:NM_000443:exon6:c.A523G:p.T175A,ABCB4:NM_018849:exon6:c.A523G:p.T175A,ABCB4:NM_018850:exon6:c.A523G:p.T175A	Cholestasis, intrahepatic, of pregnancy, 3, Autosomal recessive, Autosomal dominant;Cholestasis, progressive familial intrahepatic 3, Autosomal recessive;Gallbladder disease 1, Autosomal recessive, Autosomal dominant	6	1494	21	1	0	23	0.00763866	.	.	.	28730	not_specified|not_provided|Cholestasis,_intrahepatic,_of_pregnancy,_3|Low_phospholipid_associated_cholelithiasis|Progressive_familial_intrahepatic_cholestasis_type_3	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013995,MedGen:C3554241,OMIM:614972,Orphanet:69665|MONDO:MONDO:0010939,MedGen:C2609268,OMIM:600803,Orphanet:69663|MONDO:MONDO:0011214,MedGen:C1865643,OMIM:602347,Orphanet:79305	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.581	.	0.0085	0.00638978	0.0106	0.0012	0.0079	0.0006	0.0337	0.0107	0.0243	0.0133	0.0100581	1555	154602	rs58238559	0.0094	0.0094	0.0091	0.0096	0.0136	0.0092	0.0092	0.0130	0.0127	0.0013	0.0078	0.0051	0.0007	0.0353	0.0047	0.0086	0.0076	0.0136	0.0091	0.0091	0.0079	0.0103	0.0120	0.0087	0.0085	0.0095	0.0092	0.0013	0.0099	0.0074	0.0035	0.0004	0.0418	0.0034	0.0100	0.0057	0.0120	0.002	0.72154	D	0.083	0.41405	T	0.841	0.47740	P	0.615	0.55432	P	0.000000	0.84330	D	0.046680	1	0.81001	A	2.755	0.80505	M	-1.33	0.79854	T	-3.77	0.71997	D	0.322	0.51851	0.159	0.85208	D	0.481	0.80185	T	9	0.011848539	0.00257	T	.	.	.	0.581	0.83137	.	.	.	.	0.8884451188334237	0.88813	0.778371249764	0.65146	0.491507828236	0.37648	T	0.76704	0.93735	D	-0.121492	0.32879	T	0.0643854	0.74536	D	0.0273231974595752	0.01590	T	0.927907	0.73422	D	0.7808954	0.82709	0.70820194	0.82793	0.82174784	0.85339	0.6922355	0.81887	-8.721	0.66817	D	0.31431262091786344	0.41231	0.139	0.39982	B	.;.;.;.;.	.;.;.;.;.	4.349374	0.66796	25.0	0.99899103891873675	0.97124	0.99189	0.92544	D	AEFBI	0.877848	0.80274	D	0.521155578972957	0.68343	5.204016	0.574596404183443	0.73126	5.919407	0.999999960561408	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.86	5.86	0.93936	5.089000	0.64326	7.875000	0.72177	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	16.258	0.82351	464	0.78488	.;.;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.006042	0.000000	0.005435	0.005848	0.000000	0.000000	0.015244	0.007576	0.08333	432.83	33	chr7	87452957	.	T	C	432.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.553;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=-0.03;SOR=0.804	GT:AD:DP:GQ:PL	0/1:19,18:37:99:443,0,464	5	0	1	0
chr7	97006076	97006076	-	CAG	exonic	DLX6	.	nonframeshift insertion	DLX6:NM_005222:exon1:c.99_100insCAG:p.Q44_P45insQ	.	.	.	.	.	.	.	.	.	.	.	2115645	not_provided|DLX6-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.002	0	0.0007	0	7.211e-05	0	0.0004	0.0002458	38	154602	rs748608675	0.0006	0.0006	0.0006	0.0005	0.0036	0.0005	0.0005	0.0031	0.0029	0.0036	0.0013	0	0.0009	0	0.0006	0.0005	0.0008	0.0005	0.0015	0.0015	0.0017	0.0014	0.0040	0.0013	0.0013	0.0035	0.0033	0.0040	0	0.0014	0	0.0014	0	0	0.0004	0.0015	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1357.79	57	chr7	97006076	.	A	ACAG	1357.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.588;DP=341;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.97;ReadPosRankSum=1.14;SOR=0.656	GT:AD:DP:GQ:PL	0/1:33,35:68:99:1368,0,1259	5	0	1	0
chr7	99563862	99563862	G	A	splicing	ZNF655	NM_001085366:exon3:c.137-1G>A;NM_024061:exon5:c.350-1G>A;NM_001085367:exon5:c.350-1G>A;NM_001009958:exon3:c.137-1G>A	.	.	.	448	1046	26	2	0	30	0.0141376	0.9884	0.86	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0039	0.00279553	0.0036	0.0013	0.0015	0.0002	0.0014	0.0038	0.0033	0.0083	0.0034411	532	154602	rs62619783	0.0051	0.0051	0.0049	0.0052	0.0087	0.0050	0.0049	0.0082	0.0080	0.0009	0.0022	0.0033	2.527e-05	0.0016	0.0056	0.0054	0.0052	0.0087	0.0031	0.0031	0.0031	0.0031	0.0075	0.0029	0.0028	0.0056	0.0049	0.0010	0	0.0028	0.0046	0	0.0008	0	0.0048	0.0024	0.0075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.420496	0.01697	T	-0.371803	0.36677	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	4.931358	0.81311	27.5	0.99363849922481218	0.61113	0.85770	0.44940	D	AEFDGBCIJ	.	.	.	0.295992870996268	0.55944	3.758654	0.343683091521134	0.58128	3.981628	0.999999999999945	0.74766	0.359288	0.05646	0	0.340432	0.05866	0	0.144798	0.03916	0	0.117559	0.03655	0	0.972662	0.75027	4.14	4.14	0.47821	3.805000	0.55280	10.632000	0.83505	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	12.234	0.53819	281	0.88893	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	369.83	36	chr7	99563862	.	G	A	369.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.799;DP=226;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.41;ReadPosRankSum=-0.989;SOR=0.551	GT:AD:DP:GQ:PL	0/1:28,16:44:99:380,0,845	5	0	1	0
chr7	100106862	100106862	G	A	exonic	AP4M1	.	nonsynonymous SNV	AP4M1:NM_001363671:exon15:c.G1363A:p.A455T,AP4M1:NM_004722:exon15:c.G1342A:p.A448T	Spastic paraplegia 50, autosomal recessive, Autosomal recessive	0	1517	4	1	0	6	0.00197368	.	.	.	207436	not_provided|Hereditary_spastic_paraplegia_50|not_specified|Hereditary_spastic_paraplegia|AP4M1-related_disorder	MedGen:C3661900|MONDO:MONDO:0013048,MedGen:C2752008,OMIM:612936,Orphanet:280763|MedGen:CN169374|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.098	0.00721912620788	0.0002	.	0.0002	0	0.0002	0	0	0.0003	0.0023	0.0001	0.0002264	35	154602	rs147738731	0.0003	0.0003	0.0002	0.0003	0.0088	0.0002	0.0002	0.0069	0.0062	0.0002	0.0002	0.0025	5.038e-05	0	0.0088	0.0002	0.0004	0.0001	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0	0	0.0003	0.0029	0.0002	0	0.0032	0.0003	0	0	0.039	0.42487	D	0.494	0.25907	T	0.008	0.14655	B	0.004	0.10090	B	0.000007	0.62929	D	0.110266	0.988929	0.43968	D	-0.625	0.02162	N	2.17	0.19020	T	-0.45	0.14782	N	0.068	0.11340	-0.9885	0.32978	T	0.016	0.06425	T	10	0.038645953	0.02297	T	0.007219	0.19143	T	0.098	0.28162	.	.	0.36893422563	0.36505	0.4587114228224545	0.45789	0.10008063047	0.11309	0.508121609688	0.39959	T	0.058399	0.30832	T	-0.440513	0.01285	T	-0.57435	0.15052	T	0.0357600004055112	0.02939	T	0.852415	0.53747	D	0.19090977	0.40695	0.11519746	0.27807	0.23768955	0.46636	0.09829594	0.23429	-2.942	0.09569	T	0.2559488148643369	0.34605	0.079	0.10931	B	.;.;.;.	.;.;.;.	3.560942	0.50109	22.9	0.99171917894246964	0.54412	0.79283	0.39257	D	AEFDGBI	0.185938	0.31326	N	-0.518033416493859	0.21496	1.141258	-0.324148020133679	0.27321	1.515183	0.999999515887781	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.81	3.84	0.43422	2.187000	0.42234	9.672000	0.81222	0.676000	0.76740	0.992000	0.37556	1.000000	0.68203	0.138000	0.19872	0.1136:0.0:0.6669:0.2194	4.651	0.11978	208	0.91895	Mu homology domain|Mu homology domain;Mu homology domain|Mu homology domain;Mu homology domain|Mu homology domain;Mu homology domain|Mu homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.008772	0.000000	0.017241	0.000000	0.007576	0.08333	668.83	35	chr7	100106862	.	G	A	668.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.014;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=3.12;SOR=0.705	GT:AD:DP:GQ:PL	0/1:20,30:50:99:679,0,440	5	0	1	0
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0084618148058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.746e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.264	0.22761	T	0.002	0.09854	B	0.003	0.08700	B	0.011788	0.29400	N	0.319847	0.999984	0.18198	N	1.1	0.28011	L	0.82	0.48142	T	0.09	0.05917	N	0.115	0.10340	-1.0389	0.17648	T	0.045	0.19194	T	10	0.06973243	0.10047	T	0.008462	0.22382	T	0.015	0.02232	0.409	0.44395	0.260249123532	0.25628	0.12418845572528417	0.12344	0.308157786748	0.33120	0.309577137232	0.11843	T	0.086908	0.37827	T	-0.283254	0.10325	T	-0.644651	0.09334	T	0.086081848684672	0.10746	T	0.442656	0.12286	T	0.043123998	0.06666	0.05641909	0.10077	0.043123998	0.06665	0.05641909	0.10077	-4.159	0.26155	T	.	.	0.065	0.01960	B	.	.	1.692672	0.21567	15.25	0.93331368040686369	0.23058	0.23428	0.22073	N	AEFBI	0.121001	0.23544	N	-0.863199556233683	0.11727	0.5675084	-0.716315475991125	0.16555	0.876308	0.999171803000595	0.38651	0.52065	0.21626	1	0.588066	0.40923	0	0.719019	0.79029	0	0.604944	0.38103	0	.	.	5.06	2.18	0.26813	0.676000	0.24927	3.139000	0.36475	-0.186000	0.09761	0.000000	0.06391	1.000000	0.68203	0.968000	0.53726	0.0949:0.3504:0.5547:0.0	7.051	0.24254	285	0.88719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	2118.86	96	chr7	100175805	.	G	C	2118.86	.	AC=5;AF=0.5;AN=10;BaseQRankSum=-1.196;DP=445;ExcessHet=6.1542;FS=481.35;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.55;ReadPosRankSum=1.46;SOR=9.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,18:68:99:0|1:100175805_G_C:184,0,1592:100175805	0	0	5	1
chr7	100319614	100319614	A	T	exonic	SPDYE3	.	nonsynonymous SNV	SPDYE3:NM_001004351:exon9:c.A1396T:p.I466F	.	427	1088	6	1	0	8	0.003663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.000345042112731	0.0048	0.00179712	0.0043	0.0005	0.0012	0	0.0056	0.0067	0.0044	0.0004	0.0041914	648	154602	rs200892093	0.0049	0.0049	0.0049	0.0049	0.0109	0.0048	0.0048	0.0088	0.0080	0.0008	0.0013	0.0186	0	0.0051	0.0109	0.0054	0.0047	0.0003	0.0039	0.0039	0.0039	0.0038	0.0059	0.0036	0.0035	0.0054	0.0052	0.0006	0	0.0018	0.0193	0	0.0054	0.0034	0.0059	0.0043	0.0006	0.001	0.78490	D	0.003	0.76473	D	.	.	.	.	.	.	0.000530	0.43581	D	0.095245	1	0.08975	N	3.06	0.86941	M	.	.	.	-3.31	0.65972	D	0.465	0.50146	-0.8605	0.51227	T	0.163	0.49980	T	6	0.011924058	0.00259	T	3.45E-4	0.00039	T	0.171	0.43483	.	.	0.0675242888579	0.06100	0.24494128623059327	0.24408	0.20692334296	0.23130	.	.	.	0.31524	0.68686	T	-0.295002	0.09139	T	-0.184203	0.56131	T	0.0719273038436829	0.08918	T	0.888511	0.61827	D	0.53700966	0.69228	0.45613778	0.68387	0.53700966	0.69229	0.45613778	0.68387	-10.328	0.75852	D	.	.	0.58	0.68052	P	.	.	2.036941	0.25894	16.92	0.94278473685668363	0.24570	0.00416	0.02058	N	AEFDBI	0.028120	0.02418	N	-0.560471071124954	0.20156	1.060524	-0.864409325114642	0.12942	0.668644	9.12763380145057E-6	0.01202	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	0.185	0.185	0.14378	1.162000	0.31396	6.873000	0.56793	0.261000	0.18407	0.007000	0.17678	0.984000	0.30665	0.006000	0.07323	.	.	.	281	0.88893	.	.	.	.	.	.	Likely benign	0	0	0	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	0.006042	0.010101	0.002717	0.011696	0.000000	0.025862	0.003049	0.007576	0.08333	1181.83	34	chr7	100319614	.	A	T	1181.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.858;DP=287;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.46;MQRankSum=-1.901;QD=10.55;ReadPosRankSum=-0.526;SOR=0.764	GT:AD:DP:GQ:PL	0/1:61,51:112:99:1192,0,1535	5	0	1	0
chr7	100773854	100773854	G	0	exonic	ZAN	.	.	.	.	428	134	463	356	141	1316	0.814276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	7693.02	59	chr7	100773854	.	G	*	7693.02	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.505;DP=371;ExcessHet=0.7136;FS=2.558;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=22.83;ReadPosRankSum=1.37;SOR=0.871	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,40:77:99:0|1:100773851_A_G:1527,0,1426:100773851	5	0	1	0
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	161.04	564	chr7	100952945	.	C	*	161.04	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.413;DP=3234;ExcessHet=11.5949;FS=1.131;MLEAC=5;MLEAF=0.417;MQ=57.61;MQRankSum=-6.949;QD=0.05;ReadPosRankSum=2.07;SOR=0.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:244,136:422:99:0|1:100952942_T_G:4976,0,9836:100952942	1	0	5	0
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	12083.3	432	chr7	100953156	.	C	*	12083.3	.	AC=6;AF=0.5;AN=12;BaseQRankSum=3.79;DP=2629;ExcessHet=6.1542;FS=9.412;MLEAC=6;MLEAF=0.5;MQ=57.38;MQRankSum=-13.85;QD=4.61;ReadPosRankSum=0.526;SOR=1.238	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:250,99:376:99:0|1:100953098_G_C:3404,0,10199:100953098	0	0	6	0
chr7	100953313	100953313	C	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1534A:p.P512T	.	832	688	2	0	0	2	0.00145138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs967061375	0.0005	0.0005	0.0004	0.0006	0.0045	0.0004	0.0004	0.0038	0.0035	0	0	0.0025	0	0	0.0006	9.908e-05	0.0004	0.0045	0.0002	0.0011	0.0002	0.0003	0.0036	0.0002	0.0001	0.0023	0.0019	2.486e-05	0	6.76e-05	0.0026	0	0	0	5.983e-05	0	0.0036	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.00142	.	.	.	.	.	.	.	0.019521058	0.00437	T	.	.	.	.	.	.	.	.	.	0.026023660895657615	0.02553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.331367	0.06940	T	.	.	.	.	.	.	.	.	-5.784	0.44435	T	.	.	0.116	0.23395	B	.;.	.;.	-0.922023	0.00890	0.032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.168000	0.09914	-9.533000	0.00808	-1.281000	0.01268	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	2923.83	441	chr7	100953313	.	C	A	2923.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.815;DP=2631;ExcessHet=0;FS=6.737;MLEAC=1;MLEAF=0.083;MQ=57.56;MQRankSum=6.14;QD=8.83;ReadPosRankSum=-1.756;SOR=0.481	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:208,123:331:99:1|0:100953297_T_C:2934,0,7030:100953297	5	0	1	0
chr7	100955762	100955762	C	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C3983A:p.T1328N	.	896	620	5	1	0	7	0.00561347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1214958271	5.682e-05	0.0008	5.395e-05	5.961e-05	0.0004	3.408e-05	2.801e-05	6.753e-05	2.83e-05	0.0001	0.0002	0	0	0	0	4.124e-05	0.0002	0.0004	0.0001	0.0020	8.197e-05	0.0001	0.0003	5.702e-05	4.262e-05	8.522e-05	4.5e-05	0.0001	0	0.0003	0	0	0	0	6.966e-05	0.0008	0	.	.	.	0.261	0.22962	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05929	.	.	.	.	.	.	.	0.059814572	0.07250	T	.	.	.	.	.	.	.	.	.	0.014401527505176325	0.01397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266973	0.04402	T	.	.	.	.	.	.	.	.	-7.856	0.60085	D	.	.	0.136	0.29588	B	.;.	.;.	-0.671401	0.01388	0.080	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.660000	0.00449	-9.811000	0.00774	-0.395000	0.05324	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	1373.68	298	chr7	100955762	.	C	A	1373.68	.	AC=1;AF=0.125;AN=8;BaseQRankSum=0.104;DP=2777;ExcessHet=0;FS=10.797;MLEAC=1;MLEAF=0.125;MQ=58.89;MQRankSum=-14.93;QD=3.76;ReadPosRankSum=-4.624;SOR=1.34	GT:AD:DP:GQ:PL	0/1:307,58:365:99:1382,0,8081	3	0	1	2
chr7	100955779	100955779	C	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C4000G:p.P1334A	.	1102	405	8	1	6	16	0.0121951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1313584776	0.0003	0.0013	0.0001	0.0005	0.0020	0.0002	0.0002	0.0002	0.0001	0.0004	0.0007	0	0	0.0007	0.0020	0.0003	0.0004	0	0.0007	0.0059	0.0005	0.0008	0.0013	0.0005	0.0004	0.0006	0.0004	0.0008	0.0032	0.0013	0.0008	0	0.0009	0	0.0004	0.0014	0	.	.	.	0.336	0.18449	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04668	.	.	.	.	.	.	.	0.031654388	0.01303	T	.	.	.	.	.	.	.	.	.	0.010190083516641869	0.00981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248875	0.04334	T	.	.	.	.	.	.	.	.	-2.749	0.07724	T	.	.	0.066	0.02065	B	.;.	.;.	-0.602833	0.01564	0.103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.412000	0.02582	-2.564000	0.03604	-1.039000	0.01670	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	.	.	.	.	.	.	.	.	0.25	2198.25	298	chr7	100955779	.	C	G	2198.25	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-1.246;DP=3137;ExcessHet=0;FS=7.027;MLEAC=2;MLEAF=0.5;MQ=58.35;MQRankSum=-17.18;QD=5.44;ReadPosRankSum=-3.231;SOR=1.311	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:328,76:404:99:0|1:100955772_C_A:2204,0,13513:100955772	1	0	1	4
chr7	100955783	100955783	C	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C4004A:p.T1335K	.	931	584	6	1	0	8	0.00680272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1353275951	8.032e-05	0.0016	5.446e-05	0.0001	0.0007	5.355e-05	4.472e-05	3.205e-05	2.39e-05	0.0001	0.0001	0	0	0.0003	0.0007	5.953e-05	5.806e-05	0.0002	0.0008	0.0049	0.0007	0.0009	0.0014	0.0006	0.0005	0.0008	0.0006	0.0010	0.0026	0.0014	0.0007	0	0.0009	0	0.0005	0.0012	0.0005	.	.	.	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.12055	.	.	.	.	.	.	.	0.047530502	0.04083	T	.	.	.	.	.	.	.	.	.	0.027707913494658065	0.02720	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214079	0.02639	T	.	.	.	.	.	.	.	.	-4.934	0.36115	T	.	.	0.159	0.35119	B	.;.	.;.	0.086628	0.04912	1.492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.529000	0.02327	-4.631000	0.02060	-2.911000	0.00159	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	.	.	.	.	.	.	.	.	0.25	2597.25	298	chr7	100955783	.	C	A	2597.25	.	AC=1;AF=0.25;AN=4;BaseQRankSum=2.42;DP=3221;ExcessHet=0;FS=6.583;MLEAC=2;MLEAF=0.5;MQ=58.13;MQRankSum=-17.3;QD=6.4;ReadPosRankSum=-2.495;SOR=1.187	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:321,85:406:99:0|1:100955772_C_A:2603,0,13223:100955772	1	0	1	4
chr7	100959239	100959239	C	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C7460G:p.T2487R	.	402	1105	15	0	0	15	0.00674157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	.	.	0.000399361	0.0009	0	8.82e-05	0.0012	0	0.0002	0	0.0052	0.0006727	104	154602	rs199829729	0.0005	0.0005	0.0004	0.0006	0.0046	0.0005	0.0005	0.0042	0.0041	5.975e-05	0	0.0021	0.0010	0	0.0005	0.0002	0.0005	0.0046	0.0003	0.0003	0.0002	0.0003	0.0029	0.0002	0.0002	0.0018	0.0014	4.807e-05	0	6.53e-05	0.0026	0.0002	0	0	0.0002	0	0.0029	.	.	.	0.008	0.69154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.06720	-0.9635	0.38507	T	0.013	0.04938	T	6	0.0033223033	0.00057	T	.	.	.	.	.	.	.	0.0666544352282	0.05500	0.04254950817714387	0.04199	.	.	.	.	.	.	.	.	-0.292981	0.09339	T	-0.658623	0.08360	T	0.0125464564189315	0.00208	T	0.354465	0.09893	T	0.06280327	0.13156	0.06946024	0.14638	0.06280327	0.13155	0.06946024	0.14637	-7.582	0.58185	D	.	.	0.194	0.41387	B	.;.	.;.	0.900237	0.12741	9.261	0.86711192404425053	0.16721	0.02290	0.06594	N	AEFGI	0.068670	0.13557	N	-1.03686950376846	0.07848	0.3659505	-1.23464434807009	0.05363	0.255304	0.999978822832524	0.50053	0.69289	0.55638	0	0.019298	0.00044	3	0.517114	0.09559	2	0.683672	0.66515	0	.	.	1.97	-3.46	0.04465	-1.064000	0.03572	-0.543000	0.08571	0.291000	0.18778	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.397:0.3407:0.2623	4.397	0.10799	808	0.43318	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	3803.83	308	chr7	100959239	.	C	G	3803.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.178;DP=2427;ExcessHet=0;FS=2.546;MLEAC=1;MLEAF=0.083;MQ=59.92;MQRankSum=2.15;QD=9.19;ReadPosRankSum=0.598;SOR=0.883	GT:AD:DP:GQ:PL	0/1:264,150:414:99:3814,0,9455	5	0	1	0
chr7	100960582	100960582	T	0	exonic	MUC3A	.	.	.	.	0	9	197	0	20	217	0.916279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	29139.0	498	chr7	100960582	.	T	*	29139.0	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.604;DP=3400;ExcessHet=11.5949;FS=1.104;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=8.76;ReadPosRankSum=0.9;SOR=0.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:292,110:507:93:0|1:100960582_T_A:4991,0,11611:100960582	4	0	2	0
chr7	101002843	101002843	C	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C12280T:p.P4094S	.	653	864	2	3	0	8	0.00460829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00373543314567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.13e-06	3.377e-06	4.209e-06	0	0.0005	3.5e-07	1.3e-07	8.623e-05	3.587e-05	0	0	0	0	0	0.0005	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.28271	T	0.93	0.02777	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.5	0.14531	T	-1.07	0.27876	N	0.111	0.12341	-0.9495	0.41058	T	0.012	0.04653	T	7	0.071789205	0.10630	T	0.003735	0.08651	T	0.005	0.00259	0.121	0.02793	0.0401082797425	0.02173	0.013883061828667234	0.01345	.	.	0.343907296658	0.17021	T	0.003324	0.02728	T	-0.350173	0.04716	T	-0.740776	0.03857	T	0.0275614133307057	0.01625	T	0.210779	0.02928	T	0.024016328	0.01194	0.041439056	0.04711	0.024016328	0.01193	0.041439056	0.04711	-4.653	0.32830	T	.	.	0.119	0.27791	B	.;.	.;.	0.540067	0.09088	5.870	0.26196593007923519	0.01243	0.00195	0.01126	N	AEFI	0.034023	0.04142	N	-1.21927330450868	0.04720	0.2136671	-1.38831149324315	0.03376	0.1573354	1.69384473227754E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.9	-1.23	0.08977	0.119000	0.15456	-10.069000	0.00743	-0.648000	0.04400	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.4763:0.0:0.5237	3.798	0.08265	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	.	.	.	.	.	.	.	.	0.08333	3364.83	99	chr7	101002843	.	C	T	3364.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.301;DP=1179;ExcessHet=0;FS=3.446;MLEAC=1;MLEAF=0.083;MQ=57.37;MQRankSum=-0.162;QD=13.2;ReadPosRankSum=0.19;SOR=0.568	GT:AD:DP:GQ:PL	0/1:123,132:255:99:3375,0,3374	5	0	1	0
chr7	105613788	105613788	C	T	exonic	ATXN7L1	.	nonsynonymous SNV	ATXN7L1:NM_001318229:exon10:c.G1898A:p.R633Q	.	343	1128	47	4	0	55	0.0237992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	.	.	0.00279553	0.0070	0.0033	0.0118	0	0.0031	0.0122	0.0087	0.0038	0.0023156	358	154602	rs150948758	0.0075	0.0072	0.0077	0.0074	0.0488	0.0074	0.0074	0.0440	0.0422	0.0030	0.0061	0.0188	5.605e-05	0.0016	0.0488	0.0079	0.0091	0.0043	0.0061	0.0061	0.0061	0.0062	0.0112	0.0058	0.0057	0.0099	0.0093	0.0019	0.0011	0.0112	0.0161	0.0004	9.411e-05	0.0748	0.0082	0.0104	0.0039	1.0	0.00964	T	0.586	0.08332	T	.	.	.	.	.	.	.	.	.	.	1	0.20152	N	.	.	.	2.3	0.16953	T	-0.23	0.10656	N	.	.	-0.9613	0.38936	T	0.010	0.03719	T	8	0.0031974912	0.00054	T	.	.	.	0.003	0.00094	.	.	0.285698343383	0.28168	.	.	.	.	.	.	.	0.00299	0.02391	T	-0.698583	0.00037	T	-0.768424	0.02820	T	0.00153828558999846	0.00016	T	0.530047	0.17581	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.04356	B	.;.	.;.	0.257686	0.06365	2.828	0.33731589378881932	0.02025	0.00246	0.01361	N	AEFDBCI	0.020237	0.00780	N	-1.6761752421521	0.00930	0.04025665	-1.77662531413548	0.00837	0.03738711	0.999917394399403	0.45857	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.41	-6.95	0.01470	-0.178000	0.09775	-0.722000	0.07700	-1.563000	0.00944	0.264000	0.24988	0.002000	0.18203	0.240000	0.23001	0.1218:0.3483:0.124:0.4059	2.482	0.04309	921	0.19240	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	5911.96	133	chr7	105613788	.	C	T	5911.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.57;DP=523;ExcessHet=3.1439;FS=1.103;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=0.749;SOR=0.803	GT:AD:DP:GQ:PL	0/1:39,38:77:99:1048,0,969	2	0	4	0
chr7	108095332	108095332	C	T	exonic	LAMB4	.	nonsynonymous SNV	LAMB4:NM_001318046:exon12:c.G1366A:p.D456N,LAMB4:NM_001318047:exon12:c.G1366A:p.D456N,LAMB4:NM_001318048:exon12:c.G1366A:p.D456N,LAMB4:NM_007356:exon12:c.G1366A:p.D456N	.	426	1093	3	0	0	3	0.00137049	.	.	.	3701359	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.077	0.00618760759927	.	.	1.7e-05	0	0	0	0	3.077e-05	0	0	1.29e-05	2	154602	rs754838790	2.125e-05	2.326e-05	1.637e-05	2.617e-05	2.52e-05	1.523e-05	1.327e-05	1.38e-05	1.153e-05	0	2.236e-05	0.0001	2.52e-05	0	0	2.073e-05	3.316e-05	1.161e-05	6.57e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.903	0.06204	T	1.0	0.07150	T	0.001	0.07471	B	0.002	0.06944	B	0.034079	0.24817	N	0.337088	0.996661	0.22942	N	-0.585	0.02270	N	0.11	0.61208	T	1.08	0.01595	N	0.048	0.03613	-1.0233	0.22638	T	0.062	0.25923	T	10	0.0283041	0.00964	T	0.006188	0.16229	T	0.077	0.22490	0.61	0.74300	0.0297737177859	0.01360	0.40406696655756613	0.40322	0.0625614042726	0.06963	0.232387810946	0.02150	T	0.045294	0.27077	T	-0.364864	0.03863	T	-0.631428	0.10307	T	0.0295007366988017	0.01913	T	0.633137	0.34984	T	0.042776063	0.06550	0.04172797	0.04809	0.042776063	0.06550	0.04172797	0.04809	-4.798	0.34568	T	.	.	0.059	0.01059	B	.;.;.	.;.;.	-0.112445	0.03568	0.690	0.82689351425872326	0.14323	0.00439	0.02144	N	AEFDBHCIJ	0.033549	0.04004	N	-1.38572197392753	0.02771	0.1228406	-1.36172784030514	0.03670	0.1716516	0.999996806821361	0.74766	0.428477	0.06694	0	0.48864	0.07623	0	0.547309	0.15389	0	0.648885	0.59868	0	.	.	4.79	-4.93	0.02839	-0.525000	0.06302	-2.553000	0.03616	-0.177000	0.10537	0.043000	0.21118	0.000000	0.08366	0.984000	0.60418	0.1145:0.44:0.0:0.4455	7.473	0.26531	700	0.57880	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08333	318.83	34	chr7	108095332	.	C	T	318.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.61;DP=207;ExcessHet=0;FS=3.776;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=1.42;SOR=1.589	GT:AD:DP:GQ:PL	0/1:18,12:30:99:329,0,459	5	0	1	0
chr7	128893261	128893261	G	A	exonic	KCP	.	nonsynonymous SNV	KCP:NM_001366122:exon13:c.C1244T:p.A415V,KCP:NM_199349:exon13:c.C1244T:p.A415V	.	425	1077	19	1	0	21	0.00965517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0157748	0.0218	0.0005	0.0101	0.0017	0	0.0011	0.0213	0.0503	0.0035834	554	154602	rs199677638	0.0040	0.0039	0.0027	0.0053	0.0518	0.0039	0.0039	0.0505	0.0500	0.0003	0.0008	0	0.0001	2.036e-05	0.0018	0.0011	0.0046	0.0518	0.0023	0.0023	0.0016	0.0031	0.0509	0.0021	0.0020	0.0456	0.0436	0.0003	0	0.0016	0	0	0	0	0.0010	0.0014	0.0509	.	.	.	0.329	0.18789	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.09349	.	.	.	.	.	.	.	0.0024197698	0.00036	T	.	.	.	.	.	.	.	.	.	0.10850653874881283	0.10779	.	.	0.308590769768	0.11694	T	0.002273	0.04800	T	-0.423063	0.01636	T	-0.343233	0.39978	T	.	.	.	0.548745	0.20183	T	0.027362043	0.01916	0.1073498	0.25841	0.027362043	0.01916	0.1073498	0.25841	-6.026	0.46497	T	.	.	0.086	0.11366	B	.;.;.	.;.;.	0.432349	0.08027	4.746	0.58662788602678073	0.06044	0.05280	0.11122	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999970831139	0.74766	0.158359	0.03455	1	0.096583	0.02683	0	0.175771	0.04330	1	0.058706	0.01089	0	0.106538	0.23126	4.21	-2.36	0.06282	-0.314000	0.08132	-0.235000	0.10642	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.1189:0.2438:0.4254:0.2118	2.219	0.03725	542	0.72843	VWFC domain|VWFC domain;VWFC domain|VWFC domain;VWFC domain|VWFC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.003597	0.000000	0.000000	0.004132	0.035211	0.1667	1566.06	36	chr7	128893261	.	G	A	1566.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.75;DP=260;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=0.918;SOR=0.73	GT:AD:DP:GQ:PL	0/1:33,22:55:99:595,0,1051	4	0	2	0
chr7	129451613	129451613	T	C	exonic	STRIP2	.	nonsynonymous SNV	STRIP2:NM_001134336:exon4:c.T275C:p.V92A,STRIP2:NM_020704:exon4:c.T275C:p.V92A	.	430	1084	7	1	0	9	0.00413413	0.0002	0.012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.015892376828	.	0.000399361	0.0006	0.0002	8.639e-05	0	0	0	0	0.0043	0.0004916	76	154602	rs570968068	0.0002	0.0002	0.0001	0.0004	0.0040	0.0002	0.0002	0.0037	0.0036	2.987e-05	0	0	0	0	0.0002	0	0.0002	0.0040	0.0001	0.0001	6.427e-05	0.0002	0.0035	7.574e-05	6.279e-05	0.0022	0.0018	2.407e-05	0	0	0	0	0	0	0	0	0.0035	0.518	0.07307	T	0.614	0.07592	T	0.001	0.14184	B	0.002	0.16460	B	0.012451	0.29170	N	0.316635	0.994143	0.42177	D	1.63	0.41750	L	0.94	0.43672	T	-0.45	0.14782	N	0.235	0.26475	-1.0655	0.10432	T	0.088	0.34105	T	9	0.005226195	0.00114	T	0.015892	0.36869	T	0.079	0.23065	.	.	0.225215365344	0.22153	0.18236902444862638	0.18155	0.277347193824	0.30209	0.478532910347	0.35855	T	0.008538	0.07834	T	-0.45088	0.01116	T	-0.420715	0.30994	T	0.0173584750814703	0.00475	T	0.615438	0.23533	T	0.04957262	0.08822	0.042647082	0.05128	0.04957262	0.08822	0.042647082	0.05127	-2.616	0.06829	T	.	.	0.134	0.36966	B	.;.	.;.	2.914601	0.38671	20.8	0.89308535858219351	0.18686	0.79548	0.39439	D	AEFBI	0.114472	0.22546	N	-0.219188378457949	0.32347	1.823248	-0.117446591172619	0.34686	1.998083	0.627915658182146	0.21942	0.651	0.46895	0	0.588066	0.40923	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	4.45	3.27	0.36580	2.164000	0.42013	7.833000	0.70197	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.851000	0.40252	0.0:0.0:0.1773:0.8227	9.579	0.38644	763	0.50172	Far11/STRP, N-terminal|Far11/STRP, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	691.83	35	chr7	129451613	.	T	C	691.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.21;DP=238;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=0.687;SOR=0.653	GT:AD:DP:GQ:PL	0/1:39,28:67:99:702,0,922	5	0	1	0
chr7	132223613	132223613	G	A	exonic	PLXNA4	.	nonsynonymous SNV	PLXNA4:NM_020911:exon9:c.C2011T:p.R671C	.	.	.	.	.	.	.	.	.	.	.	2797658	PLXNA4-related_disorder	.	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.250	0.00496985225715	7.9e-05	0.000399361	3.573e-05	0	9.318e-05	0	0	4.81e-05	0	0	3.88e-05	6	154602	rs199651527	2.942e-05	2.941e-05	3.54e-05	2.339e-05	0.0002	2.217e-05	1.97e-05	5.808e-05	3.954e-05	2.987e-05	0.0001	0	2.52e-05	0	0.0002	2.249e-05	6.625e-05	5.807e-05	7.224e-05	7.218e-05	5.141e-05	9.401e-05	0.0006	3.969e-05	3.126e-05	0.0003	0.0002	0	0	0.0006	0	0	0	0	2.94e-05	0	0	0.004	0.65419	D	0.024	0.56640	D	0.995	0.67487	D	0.762	0.56524	P	0.000000	0.84330	D	0.056342	0.999997	0.58761	D	2.275	0.64647	M	2.25	0.17761	T	-2.53	0.54864	D	0.712	0.71498	-1.1458	0.01156	T	0.060	0.24981	T	10	0.49735403	0.61345	T	0.00497	0.12535	T	0.250	0.55888	.	.	0.220282294035	0.21616	0.46048553142132803	0.45966	1.50425018939	0.87093	0.506606340408	0.39748	T	0.265751	0.63764	T	-0.0872721	0.38525	T	-0.18729	0.55845	T	0.936082541942596	0.60481	D	0.980902	0.93438	D	0.29470396	0.52425	0.25209165	0.50832	0.29470396	0.52425	0.25209165	0.50831	-15.609	0.97115	D	.	.	0.401	0.59611	A	.;.	.;.	5.792331	0.93574	33	0.99930972119823291	0.99387	0.99238	0.93267	D	AEFDBI	0.936715	0.93343	D	0.765808948875862	0.83931	8.148201	0.776525813039244	0.88117	9.463842	0.999999960940692	0.74766	0.562547	0.31514	0	0.573888	0.26702	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.8	4.87	0.62877	7.938000	0.87136	7.275000	0.58003	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.8596:0.1404	15.333	0.73940	875	0.30485	PSI domain;PSI domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	581.83	33	chr7	132223613	.	G	A	581.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.16;DP=221;ExcessHet=0;FS=3.874;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=0.457;SOR=0.336	GT:AD:DP:GQ:PL	0/1:29,22:51:99:592,0,774	5	0	1	0
chr7	134538258	134538258	G	A	exonic	AKR1B10	.	nonsynonymous SNV	AKR1B10:NM_020299:exon8:c.G806A:p.R269H	.	418	1090	14	0	0	14	0.00638104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.0132954678695	0.0013	0.000798722	0.0027	0.0011	0.0020	0	0	0.0021	0.0077	0.0087	0.0023609	365	154602	rs146556418	0.0024	0.0024	0.0021	0.0027	0.0089	0.0023	0.0023	0.0084	0.0081	0.0023	0.0021	7.653e-05	0.0002	5.616e-05	0.0071	0.0021	0.0027	0.0089	0.0019	0.0020	0.0018	0.0021	0.0085	0.0018	0.0017	0.0064	0.0057	0.0020	0	0.0027	0	0.0004	9.423e-05	0.0034	0.0017	0.0038	0.0085	0.051	0.39334	T	0.094	0.39645	T	0.02	0.18235	B	0.022	0.19653	B	0.000002	0.62929	N	0.104408	0.999985	0.54805	D	1.275	0.32135	L	1.9	0.23486	T	-3.81	0.71882	D	0.392	0.43320	-1.0772	0.07901	T	0.064	0.26562	T	10	0.012001812	0.00260	T	0.013295	0.32578	T	0.081	0.23632	.	.	0.290590437066	0.28656	0.7265906804854775	0.72603	0.0417484063962	0.04490	0.27160820365	0.06352	T	0.209792	0.57010	T	-0.514587	0.00473	T	-0.505264	0.21803	T	0.0466400836865233	0.04900	T	0.743426	0.36288	T	0.41403872	0.61692	0.18016008	0.40797	0.41403872	0.61693	0.18016008	0.40796	-8.055	0.61445	D	.	.	0.430	0.61171	A	.	.	2.242027	0.28630	17.86	0.9882154788464238	0.46786	0.85467	0.44602	D	AEFBHCI	0.604892	0.59581	D	-0.393098212925703	0.25713	1.397952	-0.381319867669791	0.25555	1.406028	0.999999953660407	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.53	2.69	0.30923	2.718000	0.46904	-0.185000	0.11094	0.586000	0.30580	0.998000	0.41325	0.000000	0.08366	0.058000	0.15825	0.1675:0.0:0.8325:0.0	10.177	0.42122	814	0.42100	NADP-dependent oxidoreductase domain|Aldo/keto reductase, conserved site|NADP-dependent oxidoreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.010101	0.004076	0.002924	0.000000	0.000000	0.000000	0.015152	0.08333	2485.83	33	chr7	134538258	.	G	A	2485.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.687;DP=363;ExcessHet=0;FS=1.774;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=-0.586;SOR=0.834	GT:AD:DP:GQ:PL	0/1:87,105:192:99:2496,0,2088	5	0	1	0
chr7	135198020	135198020	C	G	exonic	WDR91	.	nonsynonymous SNV	WDR91:NM_001362736:exon7:c.G1023C:p.K341N,WDR91:NM_001362737:exon7:c.G1023C:p.K341N,WDR91:NM_001362738:exon7:c.G294C:p.K98N,WDR91:NM_014149:exon7:c.G1023C:p.K341N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0247095157815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.225e-06	0.0004	1.228e-05	4.133e-06	1.082e-05	4.39e-06	3.46e-06	5.77e-06	4.56e-06	0	0	0	0	0	0	1.082e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.40068	D	0.015	0.63918	D	0.912	0.50421	P	0.416	0.44962	B	0.000002	0.62929	D	0.132037	0.999208	0.46326	D	1.795	0.47270	L	0.3	0.67543	T	-1.47	0.38540	N	0.548	0.60833	-0.7204	0.59444	T	0.197	0.55229	T	10	0.3418054	0.51223	T	0.02471	0.47696	T	0.061	0.17616	0.269	0.21735	0.661913004606	0.65907	0.17011025613490635	0.16931	0.58467069867	0.54134	0.511138081551	0.40382	T	0.023632	0.29195	T	-0.0809371	0.39562	T	-0.354037	0.38742	T	0.827747404575348	0.48356	D	0.935306	0.75759	D	0.3040003	0.53261	0.18387754	0.41405	0.3040003	0.53261	0.18387754	0.41404	-5.092	0.37823	T	.	.	0.903	0.82925	P	.;.	.;.	3.537164	0.49653	22.8	0.99863544751240574	0.94184	0.97381	0.74389	D	AEFBI	0.330042	0.43020	N	0.314854268337097	0.56910	3.856629	0.390114502417117	0.60956	4.289092	0.999282991160995	0.39007	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.65	4.58	0.56077	1.547000	0.35798	2.626000	0.33663	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.8524:0.0:0.1476	10.466	0.43791	555	0.71762	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	69.83	44	chr7	135198020	.	C	G	69.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.334;DP=278;ExcessHet=0;FS=61.266;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.93;ReadPosRankSum=2.81;SOR=5.89	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,18:75:80:0|1:135198017_C_T:80,0,1678:135198017	5	0	1	0
chr7	142052399	142052399	A	G	exonic	MGAM	.	nonsynonymous SNV	MGAM:NM_001365693:exon25:c.A2911G:p.N971D,MGAM:NM_004668:exon25:c.A2911G:p.N971D	.	436	1079	6	1	0	8	0.00369344	.	.	.	750467	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.010	0.00359324346926	0.0002	0.00139776	0.0013	0	9.966e-05	0	0	0.0004	0	0.0081	0.0010479	162	154602	rs199621773	0.0007	0.0007	0.0004	0.0009	0.0071	0.0006	0.0006	0.0066	0.0064	2.988e-05	0.0001	0.0013	0	0	0.0024	0.0002	0.0009	0.0071	0.0005	0.0005	0.0004	0.0006	0.0087	0.0004	0.0004	0.0067	0.0059	9.631e-05	0	6.545e-05	0	0	0	0	0.0004	0.0009	0.0087	1.0	0.02448	T	1.0	0.02685	T	0.0	0.02946	B	0.001	0.04355	B	0.459360	0.04861	N	1.424420	1	0.08975	N	-0.405	0.02972	N	2.58	0.13434	T	0.3	0.04091	N	0.147	0.18784	-0.9582	0.39516	T	0.016	0.06664	T	10	0.0054890513	0.00121	T	0.003593	0.08216	T	0.010	0.01040	.	.	0.115124310173	0.11017	0.13987696902726343	0.13910	0.0469682851253	0.05113	0.370541006327	0.20909	T	0.169618	0.51706	T	-0.782468	0.00011	T	-0.892593	0.00556	T	0.0033447629863122	0.00035	T	0.0506949	0.00362	T	0.0723746	0.16094	0.088261254	0.20568	0.0723746	0.16094	0.088261254	0.20568	-5.597	0.42765	T	.	.	0.081	0.08272	B	.;.;.	.;.;.	0.361333	0.07339	3.956	0.38477931052707381	0.02597	0.00628	0.02764	N	AEFI	0.037808	0.05257	N	-1.23886493622073	0.04448	0.2007718	-1.22767873641946	0.05470	0.260691	2.75826227588431E-4	0.06300	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.64	-3.09	0.05006	-0.259000	0.08742	.	.	0.384000	0.20435	0.000000	0.06391	0.000000	0.08366	0.638000	0.32368	0.1758:0.5655:0.2587:0.0	8.769	0.33879	.	.	P-type trefoil domain|P-type trefoil domain|P-type trefoil domain|P-type trefoil domain;P-type trefoil domain|P-type trefoil domain|P-type trefoil domain|P-type trefoil domain;P-type trefoil domain|P-type trefoil domain|P-type trefoil domain|P-type trefoil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1771.83	38	chr7	142052399	.	A	G	1771.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.338;DP=352;ExcessHet=0;FS=2.325;MLEAC=1;MLEAF=0.083;MQ=59.79;MQRankSum=-1.215;QD=14.29;ReadPosRankSum=0.361;SOR=0.503	GT:AD:DP:GQ:PL	0/1:53,71:124:99:1782,0,1334	5	0	1	0
chr7	142772171	142772171	G	T	exonic	PRSS2	.	stopgain	PRSS2:NM_001303414:exon2:c.G163T:p.E55X,PRSS2:NM_002770:exon2:c.G163T:p.E55X	.	1	1510	11	0	0	11	0.00362917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs373988778	0.0002	0.0002	0.0001	0.0002	0.0009	0.0002	0.0001	0.0005	0.0005	0	0.0002	0.0003	0	1.872e-05	0.0009	0.0001	0.0002	0.0007	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	8.72e-05	0.0002	0.0001	2.412e-05	0	0	0.0006	0	9.422e-05	0	0.0002	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.673	0.74280	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	3.921126	0.57248	23.8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076000	0.14570	.	.	-0.679000	0.04243	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	782	0.47442	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	707.83	210	chr7	142772171	.	G	T	707.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.64;DP=875;ExcessHet=0;FS=1.85;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.43;ReadPosRankSum=-1.127;SOR=0.448	GT:AD:DP:GQ:PL	0/1:51,33:84:99:718,0,1297	5	0	1	0
chr7	142925581	142925581	C	A	exonic	TRPV5	.	nonsynonymous SNV	TRPV5:NM_019841:exon8:c.G1070T:p.G357V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.030358865226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.30515	T	0.268	0.25286	T	.	.	.	.	.	.	0.182213	0.17072	N	0.639360	0.997412	0.43869	D	.	.	.	-1.93	0.84842	D	-1.76	0.41618	N	0.166	0.17553	-0.8160	0.54183	T	0.345	0.70980	T	10	0.169408	0.31547	T	0.030359	0.52685	D	0.125	0.34456	0.431	0.48007	0.862882302953	0.86155	0.2973937380847846	0.29652	0.195192585736	0.21857	0.248937547207	0.03656	T	0.188193	0.81845	T	-0.0985683	0.36662	T	-0.379363	0.35797	T	0.117388807237148	0.14172	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.14888	B	.;.;.	.;.;.	0.197067	0.05823	2.265	0.93658158496426036	0.23546	0.19782	0.20793	N	ALL	0.194929	0.32199	N	-0.860453289779728	0.11794	0.5711325	-0.859575832108959	0.13058	0.6752886	0.999999995917916	0.74766	0.520426	0.21595	0	0.615948	0.52940	0	0.440839	0.06518	1	0.584449	0.35598	0	.	.	5.18	0.00282	0.13374	-1.163000	0.03248	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.940000	0.48062	0.121:0.5456:0.1238:0.2096	3.028	0.05728	692	0.58729	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1367.83	36	chr7	142925581	.	C	A	1367.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.965;DP=272;ExcessHet=0;FS=12.889;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.37;ReadPosRankSum=-0.712;SOR=1.606	GT:AD:DP:GQ:PL	0/1:39,50:89:99:1378,0,895	5	0	1	0
chr7	149021083	149021083	C	A	exonic	PDIA4	.	nonsynonymous SNV	PDIA4:NM_001371244:exon2:c.G153T:p.E51D,PDIA4:NM_001371245:exon2:c.G153T:p.E51D,PDIA4:NM_004911:exon2:c.G153T:p.E51D	.	397	1121	4	0	0	4	0.00178094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00466184016796	0.0025	0.000399361	0.0029	0.0004	0.0005	0	0.0022	0.0046	0.0026	0.0012	0.0003946	61	154602	rs149592400	0.0025	0.0025	0.0025	0.0025	0.0023	0.0024	0.0024	0.0022	0.0022	0.0003	0.0003	0.0232	2.52e-05	0.0017	0.0016	0.0023	0.0035	0.0018	0.0018	0.0018	0.0019	0.0018	0.0022	0.0017	0.0016	0.0020	0.0018	0.0004	0	0.0002	0.0248	0	0.0010	0.0034	0.0022	0.0019	0.0010	0.453	0.46129	T	0.339	0.18071	T	0.0	0.02946	B	0.0	0.01387	B	0.090182	0.20388	N	0.514245	0.999999	0.08975	N	0.105	0.08473	N	2.37	0.24285	T	0.1	0.13418	N	0.176	0.18920	-1.0597	0.11830	T	0.018	0.07234	T	10	0.001894474	0.00026	T	0.004662	0.11566	T	0.069	0.20116	0.247	0.18293	0.0762999501168	0.06990	.	.	0.0742760297956	0.08328	0.289083749056	0.08789	T	0.003849	0.15966	T	-0.587277	0.00174	T	-0.621286	0.11084	T	0.0116491407316542	0.00178	T	0.450355	0.12714	T	0.04026153	0.05713	0.022070311	0.00240	0.04026153	0.05712	0.022070311	0.00240	-2.676	0.07103	T	.	.	0.064	0.02829	B	.;.	.;.	-1.445676	0.00329	0.006	0.64762786055355115	0.07583	0.03068	0.07977	N	AEFDBI	0.099891	0.20098	N	-1.69837151909715	0.00848	0.03666495	-1.78337491715008	0.00814	0.03633175	0.999999999760165	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.51	-9.03	0.00632	-3.369000	0.00549	-20.000000	0.00162	-0.224000	0.07868	0.000000	0.06391	0.000000	0.08366	0.791000	0.37352	0.3283:0.1765:0.2244:0.2708	0.136	0.00073	946	0.12043	Thioredoxin domain;Thioredoxin 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	0.003021	0.000000	0.004076	0.002924	0.000000	0.000000	0.003049	0.003788	0.08333	1026.83	33	chr7	149021083	.	C	A	1026.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.568;DP=303;ExcessHet=0;FS=1.526;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.93;ReadPosRankSum=1.82;SOR=0.851	GT:AD:DP:GQ:PL	0/1:69,46:115:99:1037,0,1770	5	0	1	0
chr7	149070915	149070915	C	A	exonic	ZNF786	.	nonsynonymous SNV	ZNF786:NM_152411:exon4:c.G1857T:p.R619S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0184264491292	7.7e-05	.	8.312e-06	0	0	0	0	1.506e-05	0	0	6.5e-06	1	154602	rs367975181	1.505e-05	1.505e-05	1.498e-05	1.513e-05	0.0005	9.86e-06	8.42e-06	0.0001	7.541e-05	0	0	0	0	0	0.0005	1.349e-05	6.624e-05	0	1.315e-05	1.314e-05	0	2.692e-05	6.552e-05	2.18e-06	8.2e-07	.	.	0	0	6.552e-05	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.003	0.76473	D	0.999	0.77913	D	0.971	0.72444	D	0.000829	0.41547	D	0.000000	0.873366	0.35606	D	1.3	0.32576	L	2.16	0.19166	T	-3.72	0.70793	D	0.497	0.56919	-0.8641	0.50966	T	0.099	0.36932	T	10	0.21292424	0.37768	T	0.018426	0.40491	T	0.231	0.53208	0.542	0.65446	0.0884992946249	0.08302	0.23978196816891484	0.23892	0.365106079287	0.38114	0.785299360752	0.79729	T	0.249055	0.61894	T	-0.0550667	0.43673	T	-0.30139	0.44578	T	0.899898886680603	0.55229	D	0.768023	0.39669	T	0.42188305	0.62217	0.313276	0.57326	0.42188305	0.62217	0.313276	0.57325	-8.366	0.63538	D	.	.	0.921	0.89791	P	.;.	.;.	1.672490	0.21320	15.15	0.97415884224472471	0.33850	0.55496	0.29879	D	AEFDBCI	0.179807	0.30710	N	-0.624114430372953	0.18221	0.9442997	-0.965242524934565	0.10571	0.5332852	0.999990493967583	0.74766	0.722319	0.85440	0	0.577304	0.33150	0	0.698795	0.65105	0	0.635551	0.53088	0	.	.	4.61	-6.97	0.01459	-0.900000	0.04205	-2.899000	0.03249	-0.188000	0.09543	0.000000	0.06391	0.000000	0.08366	0.887000	0.42601	0.0:0.1458:0.1088:0.7455	11.414	0.49181	952	0.10565	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	.	.	.	.	.	.	.	.	0.08333	1179.83	45	chr7	149070915	.	C	A	1179.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.611;DP=270;ExcessHet=0;FS=4.535;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.73;ReadPosRankSum=-0.915;SOR=0.407	GT:AD:DP:GQ:PL	0/1:34,41:75:99:1190,0,1001	5	0	1	0
chr7	149765568	149765568	T	C	exonic	ZNF467	.	nonsynonymous SNV	ZNF467:NM_207336:exon5:c.A934G:p.K312E	.	416	1102	4	0	0	4	0.00181159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0291354652555	.	.	2.271e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs780155517	5.566e-06	5.472e-06	1.38e-06	9.821e-06	7.201e-05	2.39e-06	1.73e-06	3.083e-05	2.095e-05	0	0	0	0	0	0	0	3.355e-05	7.201e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.018	0.59732	D	0.953	0.54283	P	0.473	0.46845	P	0.003994	0.34245	U	0.000000	1	0.81001	D	1.04	0.26193	L	3.19	0.07353	T	-1.8	0.42384	N	0.132	0.12770	-1.0329	0.19522	T	0.017	0.06998	T	10	0.13895369	0.26423	T	0.029135	0.51700	D	0.077	0.22490	0.471	0.54537	0.219573609325	0.21563	0.3043459622073789	0.30347	1.2812324095	0.82538	0.828350543976	0.86311	D	0.019284	0.15390	T	-0.273087	0.11416	T	-0.519988	0.20296	T	0.748810410499573	0.43219	D	0.849515	0.53247	T	0.17327234	0.38065	0.22145918	0.46956	0.17327234	0.38065	0.22145918	0.46955	-11.925	0.84483	D	.	.	0.992	0.94236	P	.	.	3.208163	0.43659	21.8	0.99781859085240698	0.86867	0.50271	0.28624	D	AEFDBHCIJ	0.303911	0.41176	N	-0.298655468354182	0.29201	1.617228	-0.31264044450555	0.27690	1.538299	0.999989108880473	0.51787	0.516011	0.20929	0	0.610034	0.51514	0	0.378051	0.06126	2	0.491896	0.07777	0	.	.	4.35	3.16	0.35406	0.709000	0.25407	4.349000	0.43081	-0.112000	0.15009	0.000000	0.06391	1.000000	0.68203	0.566000	0.30555	0.0:0.0:0.3855:0.6144	10.646	0.44810	982	0.03397	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	.	.	.	.	.	.	.	.	0.08333	367.83	46	chr7	149765568	.	T	C	367.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.84;DP=256;ExcessHet=0;FS=2.602;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.45;ReadPosRankSum=-0.604;SOR=1.255	GT:AD:DP:GQ:PL	0/1:41,16:57:99:378,0,1142	5	0	1	0
chr7	150474077	150474077	G	A	exonic	GIMAP8	.	nonsynonymous SNV	GIMAP8:NM_175571:exon4:c.G748A:p.V250I	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	.	0.0005	0.0071885	0.0025	0.0007	0	0.0281	0	0.0003	0.0011	0.0019	0.0022833	353	154602	rs79397821	0.0013	0.0013	0.0013	0.0013	0.0340	0.0012	0.0012	0.0325	0.0319	0.0005	0.0001	0.0045	0.0340	3.744e-05	0.0017	7.644e-05	0.0017	0.0016	0.0016	0.0016	0.0013	0.0018	0.0297	0.0014	0.0013	0.0259	0.0245	0.0008	0	0.0001	0.0052	0.0297	0	0	0.0002	0.0014	0.0033	0.96	0.02097	T	0.41	0.14544	T	0.999	0.77913	D	0.997	0.86255	D	0.099209	0.19944	N	0.361375	0.955885	0.26318	N	-0.295	0.03650	N	-0.02	0.62918	T	0.11	0.05706	N	0.066	0.03841	-0.9933	0.31749	T	0.065	0.26772	T	10	0.0041127503	0.00081	T	.	.	.	0.131	0.35738	.	.	0.698418770453	0.69581	0.13604579838439876	0.13528	0.249172828966	0.27491	0.386429339647	0.23164	T	0.002224	0.01623	T	-0.548055	0.00300	T	-0.538389	0.18455	T	0.0257675198812196	0.01374	T	0.588241	0.21547	T	0.021855906	0.00812	0.022958323	0.00313	0.021855906	0.00811	0.022958323	0.00313	-1.172	0.01212	T	.	.	0.085	0.10400	B	.	.	0.819010	0.11898	8.466	0.76983318587576088	0.11688	0.08497	0.14418	N	AEFDBHCI	0.038830	0.05552	N	-0.443253856458047	0.23970	1.290964	-0.588284560006883	0.19797	1.063841	0.986211023230439	0.31024	0.706548	0.73137	0	0.653731	0.59785	0	0.68496	0.61776	0	0.714379	0.83352	0	.	.	4.47	1.32	0.20897	-0.154000	0.10116	-1.105000	0.06316	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.039000	0.14166	0.2434:0.2132:0.5434:0.0	3.563	0.07443	946	0.12043	AIG1-type guanine nucleotide-binding (G) domain|AIG1-type guanine nucleotide-binding (G) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.007576	0.08333	995.83	34	chr7	150474077	.	G	A	995.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.661;DP=275;ExcessHet=0;FS=2.584;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=0.929;SOR=1.009	GT:AD:DP:GQ:PL	0/1:65,42:107:99:1006,0,1603	5	0	1	0
chr7	152199398	152199398	T	C	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon27:c.A4154G:p.N1385S	.	436	1084	2	0	0	2	0.000921659	.	.	.	138487	not_provided|not_specified|Inborn_genetic_diseases|KMT2C-related_disorder	MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.180	0.0089724321895	7.7e-05	.	0.0002	0	0.0003	0	0	0.0002	0.0022	6.089e-05	0.0001423	22	154602	rs61730535	9.221e-05	9.303e-05	7.859e-05	0.0001	0.0017	7.929e-05	7.404e-05	0.0009	0.0007	3.111e-05	0.0001	0.0025	0	0	0.0017	2.533e-05	0.0004	2.458e-05	0.0001	0.0001	0.0001	0.0001	0.0001	8.658e-05	7.251e-05	3.762e-05	2.575e-05	0	0	0.0001	0.0026	0	0	0	8.82e-05	0.0014	0	0.176	0.22312	T	.	.	.	0.001	0.07471	B	0.002	0.06944	B	0.037234	0.24427	N	0.277746	0.969911	0.25730	N	0.715	0.18665	N	-1.6	0.82165	D	-1.86	0.43524	N	0.172	0.34228	-0.8445	0.52345	T	0.301	0.67176	T	10	0.011018038	0.00243	T	0.008972	0.23631	T	0.180	0.45073	.	.	0.267718591433	0.26370	0.16226650901219186	0.16146	0.0640093265079	0.07131	0.29297298193	0.09357	T	0.089657	0.38419	T	-0.359362	0.04166	T	-0.484676	0.23951	T	0.0206044358422887	0.00760	T	0.766923	0.39491	T	0.048927326	0.08606	0.062241163	0.12145	0.048927326	0.08606	0.062241163	0.12145	-1.993	0.03154	T	0.2312603803453081	0.31294	0.065	0.01834	B	.;.	.;.	1.322247	0.17263	13.06	0.91975227279398319	0.21306	0.91424	0.53505	D	AEFBI	0.117034	0.22945	N	-0.480465984326863	0.22722	1.215243	-0.307965318920262	0.27841	1.547751	0.952936989496296	0.28045	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.45	2.98	0.33575	0.913000	0.28233	0.464000	0.18647	0.665000	0.62972	1.000000	0.71638	0.773000	0.26716	0.996000	0.76049	0.0:0.0809:0.1462:0.7728	7.129	0.24668	878	0.29785	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001009	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	429.83	33	chr7	152199398	.	T	C	429.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.451;DP=224;ExcessHet=0;FS=2.544;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=-0.4;SOR=0.395	GT:AD:DP:GQ:PL	0/1:21,23:44:99:440,0,490	5	0	1	0
chr7	152229940	152229940	A	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon18:c.T2959C:p.Y987H	.	526	320	669	7	0	683	0.516251	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432	.	.	.	0.4728	0.4914	0.4863	0.4887	0.4732	0.4636	0.4765	0.4809	0.0018057	47	26028	rs77735469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.001979	0.37549	U	0.000000	0.971252	0.38857	D	2.22	0.62911	M	-2.28	0.87512	D	-4.01	0.75456	D	0.934	0.93959	0.656	0.92620	D	0.754	0.91609	D	10	0.012159407	0.00262	T	.	.	.	0.815	0.94046	.	.	.	.	0.5529033843776924	0.55216	2.65390431601	0.98462	0.900072455406	0.96449	D	0.576893	0.86083	D	0.315486	0.84148	D	0.215397	0.83941	D	0.0127532117779022	0.00216	T	0.984602	0.94707	D	0.6018943	0.72793	0.5814447	0.75738	0.6018943	0.72794	0.5814447	0.75739	-9.256	0.69330	D	0.6635921527459159	0.73748	0.854	0.79986	P	.;.	.;.	4.408107	0.68175	25.2	0.99273378386417865	0.57627	0.99067	0.90742	D	AEFBI	0.864295	0.78306	D	0.740431229350387	0.82279	7.723933	0.698705506977523	0.82280	7.728171	0.999787248307013	0.43007	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.67	4.67	0.58089	9.318000	0.95450	11.148000	0.87267	0.689000	0.82905	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.405	0.66648	929	0.16858	Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type;Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.454123	0.322785	0.464481	0.464912	0.428571	0.473214	0.474638	0.463115	0.5	3604.55	165	chr7	152229940	.	A	G	3604.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.209;DP=1278;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=44.77;MQRankSum=0.622;QD=2.86;ReadPosRankSum=0.458;SOR=0.725	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:156,49:205:99:.:.:691,0,5236:.	0	0	6	0
chr7	152248140	152248140	T	C	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon14:c.A2294G:p.E765G	.	414	990	118	0	0	118	0.056244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	.	.	.	0.0302	0.0363	0.0099	0.0104	0.0305	0.0277	0.0379	0.0610	0.0002305	6	26028	rs202098135	6.94e-06	0.0013	1.382e-06	1.255e-05	3.545e-05	3.51e-06	2.56e-06	9.42e-06	4.61e-06	0	2.26e-05	0	0	0	0	4.565e-06	1.676e-05	3.545e-05	2.645e-05	0.0017	0	5.412e-05	7.298e-05	8.18e-06	5.17e-06	1.935e-05	1.036e-05	7.298e-05	0	6.568e-05	0	0	0	0	0	0	0	0.004	0.68238	D	.	.	.	0.06	0.23119	B	0.018	0.18489	B	0.000267	0.46590	D	0.000000	0.84987	0.35204	D	2.38	0.68558	M	-1.93	0.84919	D	-3.01	0.62518	D	0.21	0.23380	-0.5589	0.66446	T	0.389	0.74327	T	10	0.004967302	0.00106	T	.	.	.	0.213	0.50496	.	.	.	.	0.4837393690712426	0.48293	0.0330274093867	0.03452	0.340184807777	0.16466	T	0.358057	0.72467	T	0.0232051	0.54813	T	-0.204444	0.54224	T	0.0378793499843809	0.03311	T	0.818018	0.47523	T	0.14122255	0.32550	0.16089383	0.37452	0.14122255	0.32549	0.16089383	0.37451	-4.695	0.33343	T	0.399851985512444	0.49182	0.086	0.10883	B	.;.	.;.	2.783319	0.36570	20.3	0.99485148167057358	0.67124	0.93407	0.58135	D	AEFGBI	0.154510	0.27954	N	-0.430237841499609	0.24415	1.318133	-0.330419226512641	0.27121	1.502754	0.958528990205834	0.28368	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.68	4.53	0.55009	2.762000	0.47278	1.545000	0.27254	0.665000	0.62972	0.998000	0.41325	0.991000	0.31484	0.326000	0.25110	0.0:0.1446:0.0:0.8554	8.793	0.34025	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.058409	0.106061	0.028533	0.055556	0.050000	0.051724	0.060976	0.049242	0.08333	61.83	120	chr7	152248140	.	T	C	61.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.95;DP=527;ExcessHet=0;FS=16.08;MLEAC=1;MLEAF=0.083;MQ=49.19;MQRankSum=-3.865;QD=0.59;ReadPosRankSum=1.43;SOR=3.8	GT:AD:DP:GQ:PL	0/1:96,9:105:72:72,0,3044	5	0	1	0
chr8	25506584	25506584	C	T	exonic	CDCA2	.	nonsynonymous SNV	CDCA2:NM_001317906:exon14:c.C1873T:p.R625C,CDCA2:NM_152562:exon15:c.C1918T:p.R640C	.	438	1081	3	0	0	3	0.00138568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00907877226808	.	.	2.507e-05	0	0	0	0	4.548e-05	0	0	1.94e-05	3	154602	rs773590003	9.646e-06	1.026e-05	9.59e-06	9.702e-06	2.403e-05	5.6e-06	4.38e-06	3.99e-06	2.76e-06	0	0	0	0	0	0	8.113e-06	5.007e-05	2.403e-05	6.576e-06	6.568e-06	0	1.347e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.008	0.58626	D	0.005	0.74150	D	0.067	0.23653	B	0.006	0.12133	B	0.198299	0.16666	N	0.574285	1	0.08975	N	0	0.06538	N	0.87	0.46412	T	-1.14	0.29525	N	0.074	0.06720	-1.0529	0.13601	T	0.043	0.18493	T	10	0.05317712	0.05467	T	0.009079	0.23893	T	0.053	0.14996	0.306	0.27646	0.379707525713	0.37584	0.1824084233782259	0.18159	0.11347962357	0.12810	0.282610177994	0.07860	T	0.008331	0.19354	T	-0.304677	0.08226	T	-0.605586	0.12346	T	0.1758199473822	0.18967	T	0.534647	0.17878	T	0.08380742	0.19368	0.04086085	0.04512	0.08380742	0.19367	0.04086085	0.04512	-3.103	0.11330	T	.	.	0.087	0.14201	B	.;.	.;.	1.995664	0.25356	16.73	0.95987257872102483	0.28377	0.02707	0.07358	N	AEFBI	0.055428	0.10162	N	-0.946226434292349	0.09778	0.4642616	-0.941115227461971	0.11130	0.5651229	0.999657107277824	0.41424	0.732398	0.92422	0	0.724815	0.89359	0	0.688494	0.62686	0	0.727631	0.95156	0	.	.	5.18	1.31	0.20837	-0.018000	0.12508	0.249000	0.16404	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.037000	0.13953	0.1583:0.5125:0.1535:0.1757	2.112	0.03480	925	0.17918	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	353.83	34	chr8	25506584	.	C	T	353.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.67;DP=229;ExcessHet=0;FS=4.06;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.8;ReadPosRankSum=0.976;SOR=1.291	GT:AD:DP:GQ:PL	0/1:35,17:52:99:364,0,792	5	0	1	0
chr8	28716980	28716980	G	T	exonic	EXTL3	.	nonsynonymous SNV	EXTL3:NM_001440:exon3:c.G921T:p.Q307H	.	419	1102	1	0	0	1	0.000453515	.	.	.	1362294	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.725	0.167305811505	.	.	1.649e-05	0	8.646e-05	0	0	1.5e-05	0	0	1.29e-05	2	154602	rs757011891	3.967e-05	3.967e-05	4.22e-05	3.713e-05	0.0003	3.113e-05	2.846e-05	6.092e-05	3.204e-05	0	2.236e-05	0	0	0	0.0003	4.586e-05	3.311e-05	2.319e-05	2.628e-05	2.627e-05	3.853e-05	1.345e-05	4.409e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.413e-05	0	0	0	0	0	0	4.409e-05	0	0	0.188	0.21304	T	0.365	0.16717	T	0.672	0.41203	P	0.497	0.47562	P	0.000000	0.84330	D	0.000000	0.999978	0.81001	D	1.78	0.46185	L	-4.64	0.97920	D	-0.84	0.22944	N	0.809	0.80473	0.714	0.93346	D	0.871	0.95708	D	9	0.72927576	0.74186	D	0.167306	0.84571	D	0.725	0.90324	0.621	0.75576	0.939087737409	0.93846	0.7765167534411681	0.77601	0.385026323921	0.39793	0.564919948578	0.47960	T	0.566603	0.85581	D	0.242336	0.77882	D	0.207177	0.83518	D	0.235190153121948	0.22196	T	0.938306	0.76795	D	0.10740712	0.25398	0.08822775	0.20560	0.10740712	0.25398	0.08822775	0.20559	-4.235	0.27255	T	0.1162174359732632	0.10484	0.67	0.71734	P	.	.	2.419280	0.31107	18.64	0.99528972578487374	0.69715	0.98672	0.85404	D	AEFGBI	0.732829	0.67946	D	0.179622112899484	0.50222	3.214245	0.206983052529656	0.50234	3.217651	0.999999257109709	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.54	2.54	0.29674	4.255000	0.58595	2.226000	0.31491	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.927000	0.46353	0.1363:0.1204:0.7433:0.0	9.094	0.35789	597	0.68309	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1750.83	34	chr8	28716980	.	G	T	1750.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.737;DP=325;ExcessHet=0;FS=3.828;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=2.19;SOR=0.621	GT:AD:DP:GQ:PL	0/1:80,69:149:99:1761,0,2257	5	0	1	0
chr8	30848416	30848416	G	A	exonic	TEX15	.	nonsynonymous SNV	TEX15:NM_001350162:exon8:c.C1751T:p.S584L	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00526435891446	.	.	9.912e-05	0	0	0	0	1.5e-05	0	0.0007	7.76e-05	12	154602	rs759705675	5.13e-05	5.13e-05	2.859e-05	7.426e-05	0.0006	4.192e-05	3.823e-05	0.0005	0.0005	5.974e-05	0	0	0	0	0.0003	9.892e-06	8.279e-05	0.0006	4.599e-05	4.594e-05	1.286e-05	8.062e-05	0.0010	2.109e-05	1.527e-05	0.0004	0.0003	2.408e-05	0	0	0	0.0002	0	0	0	0	0.0010	0.099	0.30656	T	0.004	0.74150	D	0.333	0.33288	B	0.061	0.26820	B	0.199087	0.16647	N	0.497156	0.999986	0.18198	N	0.92	0.23413	L	2.84	0.10674	T	-2.81	0.59389	D	0.152	0.15609	-1.0258	0.21821	T	0.022	0.09147	T	10	0.036360413	0.01930	T	0.005264	0.13433	T	0.026	0.05648	0.192	0.10304	0.299427821978	0.29548	0.0884356278364716	0.08776	0.0235980657725	0.02396	0.299876958132	0.10382	T	0.275545	0.64808	T	-0.541573	0.00328	T	-0.659331	0.08312	T	0.0273420734930452	0.01593	T	0.551245	0.19007	T	0.04391709	0.06931	0.08305664	0.19004	0.04391709	0.06930	0.08305664	0.19004	-3.603	0.17900	T	.	.	0.077	0.07318	B	.;.;.	.;.;.	0.637592	0.10061	6.810	0.86456550318176584	0.16548	0.09555	0.15285	N	AEFGBI	0.074606	0.14957	N	-0.811979961291721	0.13004	0.6376487	-0.843921978442824	0.13433	0.696854	0.681302570918417	0.22482	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.67	2.9	0.32809	0.582000	0.23535	1.741000	0.28400	-0.693000	0.04107	0.001000	0.13787	0.009000	0.19889	0.006000	0.07323	0.2327:0.0:0.7673:0.0	9.191	0.36359	732	0.54084	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1630.83	33	chr8	30848416	.	G	A	1630.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.23;DP=330;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.15;ReadPosRankSum=0.194;SOR=0.727	GT:AD:DP:GQ:PL	0/1:40,61:101:99:1641,0,879	5	0	1	0
chr8	31080997	31080997	A	G	exonic	WRN	.	nonsynonymous SNV	WRN:NM_000553:exon9:c.A970G:p.T324A	Werner syndrome, Autosomal recessive	1	1464	56	1	0	58	0.019424	.	.	YES	139188	Wiskott-Aldrich_syndrome|Werner_syndrome|not_specified|not_provided|Malignant_tumor_of_breast	MONDO:MONDO:0010518,MedGen:C0043194,OMIM:301000,Orphanet:906|MONDO:MONDO:0010196,MedGen:C0043119,OMIM:277700,Orphanet:902|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007254,MedGen:C0006142	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.018	0.00505079907063	0.0030	0.00299521	0.0036	0.0008	0.0019	0.0006	0.0002	0.0037	0.0044	0.0091	0.0035252	545	154602	rs1800390	0.0034	0.0034	0.0032	0.0035	0.0168	0.0033	0.0033	0.0141	0.0131	0.0009	0.0027	0.0031	5.045e-05	0.0001	0.0168	0.0032	0.0043	0.0090	0.0027	0.0027	0.0024	0.0030	0.0085	0.0025	0.0024	0.0064	0.0057	0.0009	0	0.0033	0.0026	0.0002	0.0002	0.0068	0.0038	0.0038	0.0085	0.359	0.11957	T	0.432	0.13634	T	0.003	0.11197	B	0.004	0.10090	B	0.286245	0.03865	N	1.445540	1	0.08975	N	0.075	0.08292	N	1.0	0.41392	T	-0.85	0.23156	N	0.026	0.00527	-1.0313	0.20034	T	0.056	0.23753	T	10	0.0030954778	0.00051	T	0.005051	0.12784	T	0.018	0.03083	.	.	0.214338557667	0.21045	0.14327334679901807	0.14250	0.0637302715162	0.07097	0.230082198977	0.01974	T	0.102429	0.41014	T	-0.67586	0.00051	T	-0.737063	0.04015	T	0.00531589299191147	0.00057	T	0.305869	0.05863	T	0.022202376	0.00867	0.0239113	0.00404	0.022202376	0.00867	0.0239113	0.00404	-3.795	0.20730	T	.	.	0.064	0.01715	B	.	.	-1.003236	0.00766	0.024	0.55756443819337698	0.05409	0.01764	0.05543	N	AEFDBI	0.019684	0.00706	N	-1.35196350224658	0.03105	0.1381541	-1.4355450691311	0.02904	0.1344473	0.488924830504959	0.20846	0.732398	0.92422	0	0.709663	0.81188	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.46	-6.52	0.01703	-1.501000	0.02385	-1.533000	0.05227	-0.589000	0.04658	0.000000	0.06391	0.000000	0.08366	0.221000	0.22489	0.4115:0.0:0.4829:0.1056	9.139	0.36052	912	0.21483	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.015609	0.015152	0.013587	0.020468	0.000000	0.017241	0.009146	0.030303	0.1667	1652.06	33	chr8	31080997	.	A	G	1652.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.63;DP=262;ExcessHet=0.4139;FS=3.444;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=0.654;SOR=1.035	GT:AD:DP:GQ:PL	0/1:30,20:50:99:559,0,840	4	0	2	0
chr8	37765583	37765583	A	G	exonic	PLPBP	.	startloss	PLPBP:NM_001349346:exon2:c.A157G:p.M53V,PLPBP:NM_001349347:exon2:c.A157G:p.M53V,PLPBP:NM_001349348:exon2:c.A1G:p.M1?,PLPBP:NM_001349349:exon2:c.A262G:p.M88V,PLPBP:NM_007198:exon2:c.A157G:p.M53V	Epilepsy, early-onset, vitamin B6-dependent, Autosomal recessive	432	1057	33	0	0	33	0.0153703	.	.	.	700577	Epilepsy,_early-onset,_vitamin_B6-dependent|PLPBP-related_disorder|not_provided	MONDO:MONDO:0015005,MedGen:C4310632,OMIM:617290|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.165	.	0.0025	0.00299521	0.0040	0.0002	0.0016	0	0	0.0044	0.0044	0.0105	0.0037386	578	154602	rs79148472	0.0030	0.0030	0.0026	0.0033	0.0114	0.0029	0.0029	0.0108	0.0106	0.0003	0.0025	0.0360	0	9.362e-05	0.0097	0.0017	0.0052	0.0114	0.0036	0.0036	0.0036	0.0037	0.0118	0.0034	0.0033	0.0094	0.0085	0.0004	0.0581	0.0068	0.0349	0.0002	0	0.0102	0.0027	0.0066	0.0118	0.186	0.43708	T	0.269	0.65728	T	0.03	0.20002	B	0.036	0.22909	B	0.000002	0.62929	N	0.129180	0.999947	0.51968	D	.	.	.	1.1	0.39050	T	-1.26	0.33197	N	0.363	0.40465	-1.0971	0.04460	T	0.041	0.17488	T	10	0.0074546933	0.00234	T	.	.	.	0.165	0.42395	.	.	0.375326005269	0.37140	0.6676253969053125	0.66700	0.393107289621	0.40487	0.498717695475	0.38649	T	0.115455	0.43406	T	-0.397739	0.02396	T	-0.334706	0.40943	T	0.0174620146107762	0.00482	T	0.870713	0.70943	D	0.16238672	0.36311	0.24272025	0.49699	0.18322273	0.39578	0.25851876	0.51584	-9.208	0.69025	D	0.2352886415509135	0.31858	0.132	0.28406	B	.;.;.	.;.;.	1.941475	0.24657	16.48	0.98291450862916874	0.39954	0.96462	0.69259	D	AEFBI	0.543781	0.55897	D	-0.351469607905831	0.27217	1.491578	-0.161590075980083	0.32965	1.880748	0.999970943173882	0.50053	0.706548	0.73137	0	0.685571	0.66316	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.61	3.19	0.35720	4.095000	0.57456	2.187000	0.31177	0.756000	0.94297	1.000000	0.71638	0.995000	0.32472	0.997000	0.79791	0.79:0.1383:0.0717:0.0	7.911	0.28952	798	0.45050	Alanine racemase, N-terminal;Alanine racemase, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014099	0.025253	0.010870	0.014620	0.050000	0.017241	0.003049	0.034091	0.08333	1170.83	35	chr8	37765583	.	A	G	1170.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.67;DP=248;ExcessHet=0;FS=2.063;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.82;ReadPosRankSum=0.636;SOR=1.08	GT:AD:DP:GQ:PL	0/1:28,46:74:99:1181,0,712	5	0	1	0
chr8	39011688	39011688	G	A	exonic	ADAM9	.	nonsynonymous SNV	ADAM9:NM_003816:exon3:c.G226A:p.E76K	Cone-rod dystrophy 9	3	1467	49	3	0	55	0.0184008	.	.	.	193527	Cone-rod_dystrophy_9|not_specified|not_provided	MONDO:MONDO:0013002,MedGen:C1423873,OMIM:612775,Orphanet:1872|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.059	.	0.0041	0.00399361	0.0064	0.0008	0.0042	0.0001	0.0005	0.0055	0.0066	0.0206	0.0059249	916	154602	rs61753672	0.0058	0.0059	0.0053	0.0063	0.0204	0.0056	0.0056	0.0196	0.0193	0.0007	0.0046	0.0214	2.523e-05	0.0007	0.0134	0.0047	0.0079	0.0204	0.0049	0.0049	0.0046	0.0051	0.0190	0.0046	0.0044	0.0159	0.0147	0.0013	0	0.0056	0.0282	0.0002	0.0008	0.0136	0.0055	0.0085	0.0190	0.43	0.13479	T	0.283	0.21478	T	0.046	0.24799	B	0.042	0.30390	B	0.002571	0.36316	N	0.322851	0.701829	0.30683	N	0.69	0.16971	N	3.24	0.06845	T	-0.8	0.22078	N	0.298	0.33687	-0.9505	0.40885	T	0.008	0.02638	T	10	0.0056779087	0.00126	T	.	.	.	0.059	0.16972	.	.	0.335408717102	0.33150	0.5952498386516747	0.59454	0.445410381898	0.44433	0.383827090263	0.22798	T	0.00501	0.26742	T	-0.596119	0.00154	T	-0.614123	0.11652	T	0.00231834998494195	0.00024	T	0.826617	0.52285	T	0.05485932	0.10582	0.05220143	0.08554	0.06884481	0.15033	0.06662778	0.13673	-3.492	0.16320	T	0.1193214732773478	0.11103	0.129	0.27523	B	.;.;.	.;.;.	2.015665	0.25613	16.83	0.82309923148698827	0.14126	0.67078	0.33303	D	AEFGBI	0.067283	0.13219	N	-0.616600102492996	0.18444	0.9576911	-0.446834104372004	0.23638	1.290172	0.999875220121655	0.44625	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.73	1.19	0.20120	0.969000	0.28967	2.921000	0.35563	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.894000	0.43146	0.1356:0.3548:0.5096:0.0	6.302	0.20327	665	0.61472	Peptidase M12B, propeptide;Peptidase M12B, propeptide;Peptidase M12B, propeptide	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.011078	0.015152	0.008152	0.002924	0.000000	0.000000	0.018293	0.018939	0.08333	1019.83	34	chr8	39011688	.	G	A	1019.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.4;DP=296;ExcessHet=0;FS=2.397;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.36;ReadPosRankSum=-0.541;SOR=0.942	GT:AD:DP:GQ:PL	0/1:77,45:122:99:1030,0,1833	5	0	1	0
chr8	86474312	86474314	TTC	-	exonic	RMDN1	.	nonframeshift deletion	RMDN1:NM_001286707:exon9:c.810_812del:p.K270del,RMDN1:NM_001286719:exon9:c.849_851del:p.K283del,RMDN1:NM_016033:exon10:c.939_941del:p.K313del	.	447	1069	6	0	0	6	0.00279851	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0376	0.00199681	0.0038	0.0004	0.0036	0.0001	0.0029	0.0049	0.0033	0.0043	0.0007684	20	26028	rs529480556	0.0047	0.0047	0.0046	0.0047	0.0052	0.0046	0.0045	0.0051	0.0050	0.0005	0.0040	0.0005	0	0.0031	0.0019	0.0052	0.0038	0.0051	0.0031	0.0031	0.0032	0.0031	0.0051	0.0029	0.0028	0.0046	0.0044	0.0008	0	0.0041	0.0009	0.0002	0.0014	0	0.0051	0.0028	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1416.79	34	chr8	86474311	.	ATTC	A	1416.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.698;DP=241;ExcessHet=0;FS=2.113;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=22.14;ReadPosRankSum=-0.646;SOR=0.829	GT:AD:DP:GQ:PL	0/1:28,36:64:99:1427,0,1047	5	0	1	0
chr8	104349544	104349544	T	C	exonic	DCSTAMP	.	nonsynonymous SNV	DCSTAMP:NM_030788:exon2:c.T992C:p.L331S	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.039645112506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.002	0.79402	D	0.999	0.77913	D	0.985	0.76457	D	0.000055	0.53742	D	0.078542	0.999895	0.81001	D	3.1	0.87590	M	1.43	0.32958	T	-0.33	0.12472	N	0.609	0.62611	-0.9041	0.47550	T	0.160	0.49363	T	10	0.7226913	0.73768	D	0.039645	0.58928	D	0.226	0.52472	0.621	0.75576	0.547638893815	0.54419	0.6672444212368851	0.66662	0.49271540764	0.47905	0.384348213673	0.22871	T	0.079697	0.36190	T	-0.00482832	0.50985	T	-0.244712	0.50336	T	0.962053835391998	0.66257	D	0.630437	0.24556	T	0.39071104	0.60082	0.36801386	0.62100	0.39071104	0.60083	0.36801386	0.62100	-4.618	0.32397	T	.	.	0.415	0.60399	A	.	.	4.341443	0.66608	25.0	0.99870185147623669	0.94815	0.96968	0.71932	D	AEFDBHCI	0.749239	0.69074	D	0.554055412654427	0.70329	5.485642	0.553837835022632	0.71664	5.68953	0.983487126546018	0.30567	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.5	5.5	0.81386	3.357000	0.51997	6.222000	0.55136	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.0:0.0:1.0	14.179	0.65098	531	0.73574	Dendritic cell-specific transmembrane protein-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	513.83	40	chr8	104349544	.	T	C	513.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.478;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=-0.286;SOR=0.861	GT:AD:DP:GQ:PL	0/1:29,23:52:99:524,0,681	5	0	1	0
chr8	112304740	112304740	A	C	exonic	CSMD3	.	nonsynonymous SNV	CSMD3:NM_001363185:exon48:c.T7647G:p.N2549K,CSMD3:NM_198123:exon52:c.T8247G:p.N2749K,CSMD3:NM_198124:exon53:c.T8127G:p.N2709K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.00831139853163	.	.	.	.	.	.	.	.	.	.	.	.	.	rs774021816	6.159e-06	6.156e-06	2.724e-06	9.629e-06	8.097e-06	2.9e-06	2.1e-06	3.81e-06	2.76e-06	0	0	0	0	0	0	8.097e-06	0	0	1.971e-05	1.97e-05	3.854e-05	0	2.941e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.412e-05	0	0	0	0	0	0	2.941e-05	0	0	0.076	0.34269	T	0.026	0.55759	D	0.845	0.77913	P	0.545	0.75793	P	0.000062	0.52346	D	0.072784	0.994391	0.81001	D	1.6	0.40776	L	1.86	0.24285	T	-2.24	0.50502	N	0.613	0.68950	-0.9892	0.32803	T	0.102	0.37568	T	10	0.3669994	0.53180	T	0.008311	0.22004	T	0.146	0.38789	0.604	0.73586	0.468098961252	0.46438	0.40845545096516084	0.40761	0.685167646302	0.60274	0.642451524734	0.58913	T	0.038365	0.24814	T	-0.177559	0.24101	T	-0.492827	0.23094	T	0.956132352352142	0.64681	D	0.894511	0.63379	D	0.15249753	0.34614	0.18951379	0.42303	0.15249753	0.34613	0.18951379	0.42302	-7.845	0.60009	D	.	.	0.167	0.36732	B	.;.;.	.;.;.	3.934099	0.57522	23.9	0.99688327689939038	0.79775	0.89640	0.50234	D	AEFGI	0.478373	0.52096	N	0.281617941011346	0.55216	3.685891	0.308717650964008	0.56050	3.768053	0.00327197341316168	0.10029	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.04	5.04	0.67293	2.279000	0.43094	4.032000	0.41347	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9211:0.0:0.0789:0.0	9.595	0.38735	848	0.35897	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	771.83	34	chr8	112304740	.	A	C	771.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.089;DP=226;ExcessHet=0;FS=0.985;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=-0.959;SOR=0.853	GT:AD:DP:GQ:PL	0/1:27,32:59:99:782,0,659	5	0	1	0
chr8	120289648	120289648	T	C	exonic	COL14A1	.	nonsynonymous SNV	COL14A1:NM_001384947:exon34:c.T4118C:p.I1373T,COL14A1:NM_021110:exon34:c.T4118C:p.I1373T	.	9	1469	42	2	0	46	0.0154155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	.	0.0027	0.00459265	0.0048	0.0007	0.0016	0	0.0005	0.0038	0.0033	0.0182	0.0044372	686	154602	rs61754507	0.0041	0.0041	0.0036	0.0047	0.0185	0.0041	0.0040	0.0177	0.0174	0.0006	0.0017	0.0091	0	0.0009	0.0092	0.0033	0.0051	0.0185	0.0026	0.0026	0.0023	0.0028	0.0209	0.0024	0.0023	0.0176	0.0164	0.0008	0	0.0024	0.0052	0	0.0002	0	0.0028	0.0028	0.0209	0.001	0.78490	D	0.007	0.69154	D	0.181	0.29111	B	0.036	0.22909	B	0.010610	0.29855	N	0.374219	0.915011	0.36514	D	2.475	0.71894	M	4.32	0.02387	T	-3.61	0.69477	D	0.773	0.77039	-1.0479	0.14988	T	0.015	0.06234	T	10	0.0121225715	0.00262	T	.	.	.	0.194	0.47447	.	.	0.479818277033	0.47611	0.6657480468610676	0.66511	0.303603615688	0.32679	0.434954255819	0.29886	T	0.585014	0.86469	D	-0.469243	0.00859	T	-0.432532	0.29648	T	0.10416299502868	0.12808	T	0.957904	0.84742	D	0.48062095	0.65938	0.42359492	0.66225	0.48062095	0.65938	0.42359492	0.66226	-9.71	0.72157	D	.	.	0.238	0.47195	B	.;.;.	.;.;.	3.680034	0.52381	23.2	0.99485900347351819	0.67180	0.97838	0.77507	D	AEFGBI	0.910121	0.86763	D	0.184864008024977	0.50472	3.236911	0.31834502951146	0.56616	3.825359	0.999996673597258	0.74766	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	5.95	5.95	0.96415	7.436000	0.79570	7.890000	0.72998	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.765000	0.36330	0.0:0.0:0.0:1.0	16.405	0.83500	658	0.62094	.;Laminin G domain;Laminin G 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	0.006546	0.000000	0.002717	0.002924	0.000000	0.017241	0.006098	0.015152	0.08333	694.83	34	chr8	120289648	.	T	C	694.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.337;DP=258;ExcessHet=0;FS=1.892;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=-1.147;SOR=0.495	GT:AD:DP:GQ:PL	0/1:43,32:75:99:705,0,1066	5	0	1	0
chr8	120693819	120693819	G	A	exonic	SNTB1	.	nonsynonymous SNV	SNTB1:NM_021021:exon2:c.C661T:p.R221W	.	431	1090	1	0	0	1	0.000458505	.	.	.	2210921	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.231	0.0519646472568	7.7e-05	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs373190531	9.577e-06	9.577e-06	1.089e-05	8.251e-06	1.159e-05	5.56e-06	4.35e-06	4.55e-06	3.32e-06	0	0	0	0	0	0	8.994e-06	4.967e-05	1.159e-05	2.627e-05	2.625e-05	1.285e-05	4.029e-05	6.535e-05	8.14e-06	5.14e-06	.	.	0	0	6.535e-05	0	0	0	0.0068	1.47e-05	0	0	0.019	0.50132	D	0.03	0.54159	D	1.0	0.90584	D	0.937	0.67262	D	0.000030	0.55875	D	0.163403	0.999999	0.58761	D	2.47	0.71715	M	0.48	0.55945	T	-2.98	0.62008	D	0.561	0.58798	-0.5569	0.66522	T	0.283	0.65527	T	10	0.72011614	0.73606	D	0.051965	0.64878	D	0.231	0.53208	.	.	0.250512400709	0.24649	0.4478086607302675	0.44698	.	.	0.639398336411	0.58478	T	0.42849	0.77761	T	-0.0913031	0.37860	T	-0.272073	0.47609	T	0.978215634822845	0.72217	D	0.944805	0.79065	D	0.11461472	0.27057	0.115768656	0.27946	0.11461472	0.27057	0.115768656	0.27945	-8.205	0.62459	D	.	.	0.223	0.45544	B	.;.	.;.	4.843862	0.79105	27.0	0.99891934752563827	0.96589	0.98654	0.85187	D	AEFBI	0.588689	0.58586	D	0.202629344792859	0.51327	3.314773	0.085535631605291	0.43819	2.675917	0.999953642336569	0.48110	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.96	4.09	0.47038	3.524000	0.53250	1.698000	0.28113	0.676000	0.76740	0.997000	0.40164	0.951000	0.29025	0.186000	0.21481	0.0:0.0:0.7324:0.2676	14.991	0.71046	623	0.65786	Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	556.83	36	chr8	120693819	.	G	A	556.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.92;DP=269;ExcessHet=0;FS=0.873;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.12;ReadPosRankSum=1.67;SOR=0.873	GT:AD:DP:GQ:PL	0/1:64,27:91:99:567,0,1532	5	0	1	0
chr8	132098932	132098932	G	A	exonic	HHLA1	.	nonsynonymous SNV	HHLA1:NM_001145095:exon4:c.C230T:p.A77V	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.00861135575219	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1023505309	1.644e-05	1.642e-05	1.411e-05	1.884e-05	0.0002	1.095e-05	9.15e-06	1.049e-05	5.18e-06	6.334e-05	0	0	5.599e-05	2.028e-05	0.0002	1.205e-05	6.895e-05	0	1.314e-05	1.313e-05	1.285e-05	1.346e-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	0.035	0.43708	D	0.032	0.54541	D	0.972	0.57405	D	0.552	0.49293	P	.	.	.	.	1	0.08975	N	2.135	0.59519	M	.	.	.	-1.57	0.37955	N	0.627	0.64137	-1.0432	0.16354	T	0.092	0.35146	T	8	0.4073789	0.55987	T	0.008611	0.22755	T	0.140	0.37593	0.213	0.13210	0.0401082797425	0.02173	0.15311328799339585	0.15233	.	.	0.35773396492	0.19054	T	0.074087	0.34855	T	-0.0942587	0.37372	T	-0.362354	0.37780	T	0.87975800037384	0.52974	D	0.847215	0.53103	T	0.11247511	0.26571	0.18131942	0.40987	0.11247511	0.26570	0.18131942	0.40986	-3.697	0.19274	T	.	.	0.137	0.38426	B	.;.	.;.	3.814690	0.55040	23.6	0.99892276664721313	0.96589	0.30470	0.24091	N	AEFDBI	0.162547	0.28873	N	0.0192981092595456	0.42732	2.580378	-0.0148846139057998	0.39041	2.308965	0.00186301349967884	0.08957	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	6.04	5.16	0.70563	3.629000	0.54007	6.374000	0.55530	0.671000	0.69459	0.316000	0.25468	0.997000	0.33255	0.599000	0.31363	0.0:0.0:0.7173:0.2827	13.575	0.61330	910	0.22284	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001253	0.000000	0.000000	0.004425	0.000000	0.000000	0.000000	0.000000	0.1667	1332.04	38	chr8	132098932	.	G	A	1332.04	.	AC=2;AF=0.167;AN=12;DP=303;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=28.34;SOR=0.919	GT:AD:DP:GQ:PL	1/1:0,47:47:99:1352,140,0	5	1	0	0
chr8	144846102	144846102	C	T	exonic	ZNF7	.	nonsynonymous SNV	ZNF7:NM_001282796:exon5:c.C371T:p.S124L,ZNF7:NM_001330623:exon5:c.C404T:p.S135L	.	418	1097	6	1	0	8	0.00363306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.00344693913937	.	0.00179712	0.0032	0	0	0	0	0	0	0.0062	0.000401	62	154602	rs377425729	0.0005	0.0005	0.0003	0.0007	0.0077	0.0005	0.0004	0.0072	0.0070	0.0004	0	0	0	0	0	1.483e-05	0.0005	0.0077	0.0004	0.0004	0.0003	0.0005	0.0091	0.0003	0.0003	0.0070	0.0062	0.0004	0	0	0	0	0	0	0	0	0.0091	0.431	0.17069	T	0.155	0.31936	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.46	0.00959	T	-1.17	0.29933	N	0.21	0.27435	-0.9430	0.42137	T	0.001	0.00438	T	8	0.0038035214	0.00071	T	0.003447	0.07786	T	0.078	0.22779	0.252	0.19067	0.230578612272	0.22657	.	.	.	.	.	.	.	0.011662	0.10375	T	-0.708389	0.00033	T	-0.785482	0.02292	T	0.00609401466278623	0.00067	T	0.558744	0.19484	T	.	.	.	.	.	.	.	.	-3.337	0.14219	T	.	.	0.133	0.29860	B	.;.	.;.	0.032812	0.04515	1.215	0.86244381660808489	0.16407	0.00527	0.02446	N	AEFDBHI	0.028466	0.02513	N	-1.42668104618604	0.02406	0.1062217	-1.5882582289623	0.01727	0.07850494	0.999999613326658	0.74766	0.475973	0.10046	0	0.379588	0.06130	0	0.670488	0.60580	0	0.491896	0.07777	0	.	.	1.18	-2.35	0.06302	-0.108000	0.10827	-3.779000	0.02542	-0.278000	0.06506	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2088:0.2408:0.2081:0.3423	0.199	0.00133	764	0.49969	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	2907.04	35	chr8	144846102	.	C	T	2907.04	.	AC=2;AF=0.167;AN=12;DP=273;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.26;SOR=0.758	GT:AD:DP:GQ:PL	1/1:0,93:93:99:2927,278,0	5	1	0	0
chr9	340265	340265	C	G	exonic	DOCK8	.	nonsynonymous SNV	DOCK8:NM_001190458:exon13:c.C1419G:p.H473Q,DOCK8:NM_001193536:exon13:c.C1419G:p.H473Q,DOCK8:NM_203447:exon14:c.C1623G:p.H541Q	Hyper-IgE recurrent infection syndrome, autosomal recessive, Autosomal recessive	1	1512	9	0	0	9	0.00296736	.	.	.	319005	not_specified|Combined_immunodeficiency_due_to_DOCK8_deficiency|not_provided	MedGen:CN169374|MONDO:MONDO:0009478,MedGen:C4722305,OMIM:243700,Orphanet:217390|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.032	0.0059149907284	0.0002	.	0.0003	0	0.0004	0	0	0.0002	0.0011	0.0009	0.0002458	38	154602	rs200201944	0.0002	0.0002	0.0001	0.0003	0.0014	0.0002	0.0002	0.0009	0.0009	5.974e-05	0.0007	0.0006	2.519e-05	5.616e-05	0.0014	9.263e-05	0.0003	0.0011	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0005	0.0004	0	0	0.0005	0.0006	0	0	0	0.0001	0	0.0012	0.041	0.41915	D	0.032	0.53426	D	0.05	0.22331	B	0.011	0.15521	B	0.001899	0.37740	N	0.275554	0.814	0.34681	D	2.2	0.62015	M	1.38	0.34050	T	-0.01	0.07155	N	0.237	0.28264	-0.9910	0.32347	T	0.070	0.28511	T	10	0.06831482	0.09645	T	0.005915	0.15400	T	0.032	0.07718	0.23	0.15705	0.547979623877	0.54453	0.4296946275861968	0.42886	0.0430764191683	0.04641	0.387550532818	0.23323	T	0.09035	0.38566	T	-0.496618	0.00597	T	-0.550888	0.17240	T	0.0312500582983776	0.02186	T	0.747625	0.36808	T	0.05336474	0.10088	0.06791616	0.14115	0.05336474	0.10087	0.06791616	0.14115	-5.429	0.41197	T	0.1701007525784645	0.21368	0.128	0.33039	B	.;.;.	.;.;.	2.641993	0.34377	19.61	0.97963772291061835	0.37195	0.85703	0.44865	D	AEFBI	0.333871	0.43282	N	-0.13054634226043	0.36066	2.079815	0.00583394984712146	0.39985	2.379214	0.330698143434762	0.19482	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.49	3.59	0.40253	0.585000	0.23580	3.205000	0.36771	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.888000	0.42677	0.1451:0.6663:0.0:0.1886	6.390	0.20786	854	0.34840	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	666.83	33	chr9	340265	.	C	G	666.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.394;DP=225;ExcessHet=0;FS=1.11;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=0.225;SOR=0.881	GT:AD:DP:GQ:PL	0/1:21,26:47:99:677,0,605	5	0	1	0
chr9	2804375	2804375	T	C	exonic	PUM3	.	nonsynonymous SNV	PUM3:NM_014878:exon18:c.A1903G:p.T635A	.	430	1085	7	0	0	7	0.00321543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0023533795346	7.7e-05	0.000199681	0.0004	9.623e-05	0	0	0	7.499e-05	0.0011	0.0022	0.0002846	44	154602	rs145258798	0.0002	0.0002	0.0001	0.0003	0.0022	0.0002	0.0002	0.0019	0.0018	0	4.474e-05	3.827e-05	0	0	0.0010	7.285e-05	0.0002	0.0022	0.0002	0.0002	0.0002	0.0002	0.0021	0.0001	0.0001	0.0011	0.0009	7.215e-05	0	0	0	0	0	0	0.0002	0	0.0021	0.528	0.07071	T	0.763	0.04587	T	0.0	0.02946	B	0.001	0.04355	B	0.475559	0.12226	N	0.767557	1	0.08975	N	.	.	.	2.83	0.10771	T	-0.9	0.24244	N	0.051	0.02272	-0.9301	0.44124	T	0.008	0.02801	T	10	0.005516112	0.00122	T	0.002353	0.04562	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.15190030773579874	0.15112	0.00355455249364	0.00305	0.287665784359	0.08582	T	0.009937	0.09012	T	-0.71134	0.00031	T	-0.813582	0.01586	T	0.00465849641814126	0.00050	T	0.481052	0.14533	T	0.026510715	0.01718	0.026068397	0.00678	0.026510715	0.01718	0.026068397	0.00678	-2.692	0.07236	T	.	.	0.064	0.01738	B	.	.	0.769179	0.11391	8.004	0.89023185680342687	0.18448	0.10614	0.16071	N	AEFBI	0.034910	0.04405	N	-1.05492114181339	0.07491	0.3481819	-0.903482789064285	0.12012	0.615437	0.999580658737064	0.40607	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.65	0.076	0.13715	-0.405000	0.07258	-0.114000	0.11796	0.665000	0.62972	0.338000	0.25657	0.030000	0.21233	0.996000	0.76049	0.0:0.3324:0.3371:0.3305	4.683	0.12126	848	0.35897	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.08333	289.83	37	chr9	2804375	.	T	C	289.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.391;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.78;ReadPosRankSum=0.365;SOR=0.602	GT:AD:DP:GQ:PL	0/1:19,14:33:99:300,0,465	5	0	1	0
chr9	5462959	5462959	G	A	exonic	CD274	.	nonsynonymous SNV	CD274:NM_001267706:exon3:c.G178A:p.V60I,CD274:NM_001314029:exon4:c.G520A:p.V174I,CD274:NM_014143:exon4:c.G520A:p.V174I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.00964429702532	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.24372	T	0.565	0.18732	T	0.0	0.02946	B	0.001	0.04355	B	0.865356	0.08864	N	0.928689	1	0.08975	N	0.4	0.12274	N	-0.98	0.75789	T	-0.33	0.12472	N	0.074	0.04790	-1.0112	0.26541	T	0.167	0.50648	T	10	0.042622924	0.03030	T	0.009644	0.25199	T	0.100	0.28662	0.424	0.46857	0.284539287134	0.28064	0.08487441078219117	0.08421	0.353760334554	0.37172	0.302611470222	0.10792	T	0.241856	0.61048	T	-0.206373	0.19893	T	-0.534217	0.18867	T	0.0285242919997252	0.01765	T	0.654634	0.26482	T	0.08965019	0.20954	0.06398514	0.12757	0.08965019	0.20953	0.06398514	0.12757	-4.132	0.26388	T	.	.	0.075	0.06024	B	.;.	.;.	0.440693	0.08107	4.837	0.91480695311028504	0.20753	0.12295	0.17181	N	AEFGBCI	0.035022	0.04437	N	-0.935678265543211	0.10016	0.4766967	-0.894531854186726	0.12222	0.6274804	0.999910112917045	0.45857	0.722319	0.85440	0	0.698795	0.70079	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.86	-0.924	0.09930	0.296000	0.18839	.	.	0.676000	0.76740	0.108000	0.22953	0.000000	0.08366	0.982000	0.59238	0.3642:0.1383:0.3562:0.1414	1.265	0.01887	852	0.35056	.;CD80-like, immunoglobulin C2-set|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1437.83	39	chr9	5462959	.	G	A	1437.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.549;DP=292;ExcessHet=0;FS=1.503;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=-0.201;SOR=0.534	GT:AD:DP:GQ:PL	0/1:56,57:113:99:1448,0,1483	5	0	1	0
chr9	5832742	5832742	-	GAGCTGCTGCAGCGA	exonic	ERMP1	.	nonframeshift insertion	ERMP1:NM_024896:exon1:c.285_286insTCGCTGCAGCAGCTC:p.L95_V96insSLQQL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1036107758	6.694e-05	6.636e-05	5.286e-05	8.138e-05	0.0001	5.539e-05	5.126e-05	5.212e-05	4.775e-05	3.651e-05	3.27e-05	8.393e-05	0.0001	2.937e-05	0	6.486e-05	0.0001	6.667e-05	3.286e-05	3.284e-05	3.855e-05	2.69e-05	5.882e-05	1.261e-05	7.98e-06	1.973e-05	1.125e-05	2.412e-05	0	0	0	0	0	0	5.882e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	372.79	17	chr9	5832742	.	C	CGAGCTGCTGCAGCGA	372.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.01;DP=187;ExcessHet=0;FS=5.664;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=-0.921;SOR=1.777	GT:AD:DP:GQ:PL	0/1:23,11:34:99:383,0,923	5	0	1	0
chr9	35609719	35609719	C	T	exonic	TESK1	.	stopgain	TESK1:NM_001318230:exon9:c.C1378T:p.Q460X,TESK1:NM_006285:exon10:c.C1858T:p.Q620X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1409808986	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001218	0.39820	N	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.148	0.15046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58478	0.97200	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	8.638826	0.97821	38	0.99476321656504929	0.66633	0.91352	0.53360	D	AEFDBI	0.199470	0.32627	N	0.771649731023049	0.84304	8.251022	0.635176039449237	0.77511	6.693528	0.999999814051899	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.12	5.12	0.69459	1.115000	0.30823	5.929000	0.51288	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2886:0.7114:0.0:0.0	11.199	0.47956	234	0.90879	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1143.83	33	chr9	35609719	.	C	T	1143.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.217;DP=239;ExcessHet=0;FS=1.002;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=-1.089;SOR=0.523	GT:AD:DP:GQ:PL	0/1:23,45:68:99:1154,0,523	5	0	1	0
chr9	35738149	35738149	C	T	exonic	GBA2	.	nonsynonymous SNV	GBA2:NM_001330660:exon15:c.G2201A:p.R734H,GBA2:NM_020944:exon15:c.G2201A:p.R734H	Spastic paraplegia 46, autosomal recessive, Autosomal recessive	418	1094	10	0	0	10	0.00454959	.	.	YES	459234	not_provided|Spastic_paraplegia|GBA2-related_disorder|Hereditary_spastic_paraplegia	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|.|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.062	0.00666668549365	0.0004	.	0.0007	9.615e-05	0.0010	0.0001	0.0002	0.0009	0.0033	0.0005	0.0007115	110	154602	rs142621039	0.0006	0.0006	0.0006	0.0006	0.0281	0.0006	0.0006	0.0246	0.0232	0.0012	0.0010	0.0008	0	0.0001	0.0281	0.0004	0.0015	0.0005	0.0005	0.0005	0.0004	0.0005	0.0006	0.0004	0.0003	0.0005	0.0004	0.0002	0	0.0003	0.0006	0	0	0.0204	0.0006	0.0033	0.0002	0.049	0.39820	D	0.155	0.62352	T	0.04	0.73220	B	0.024	0.59664	B	0.000012	0.62929	D	0.103920	0.966584	0.38539	D	0.755	0.19153	N	.	.	.	-0.74	0.44284	N	0.177	0.20129	-0.7590	0.57460	T	0.182	0.52996	T	9	0.08138573	0.13316	T	0.006667	0.17614	T	0.062	0.17934	.	.	0.669898965789	0.66711	0.178110442209124	0.17730	0.371760189014	0.38677	0.438472211361	0.30369	T	0.606422	0.87461	D	-0.421568	0.01671	T	-0.402957	0.33040	T	0.010069983932768	0.00135	T	0.948405	0.88325	D	0.07569718	0.17072	0.054802172	0.09493	0.0821733	0.18917	0.046679176	0.06558	-6.574	0.50915	T	0.2545519719737281	0.34425	0.067	0.24363	B	.;.;.	.;.;.	4.728429	0.76132	26.5	0.99931123691797763	0.99387	0.86478	0.45766	D	AEFBCI	0.226858	0.35075	N	0.169245712864204	0.49725	3.169776	0.278100444905668	0.54264	3.591838	0.999993528147224	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.8	4.91	0.63897	3.265000	0.51264	4.918000	0.46015	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:0.7699:0.0:0.2301	9.153	0.36135	95	0.96074	Glycosyl-hydrolase family 116, catalytic region;Glycosyl-hydrolase family 116, catalytic region;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022155	0.010101	0.021739	0.076023	0.050000	0.017241	0.000000	0.003788	0.08333	829.83	33	chr9	35738149	.	C	T	829.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.31;DP=267;ExcessHet=0;FS=0.824;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=-1.001;SOR=0.533	GT:AD:DP:GQ:PL	0/1:55,34:89:99:840,0,1321	5	0	1	0
chr9	37746717	37746717	C	T	exonic	FRMPD1	.	nonsynonymous SNV	FRMPD1:NM_001371223:exon16:c.C4685T:p.T1562M,FRMPD1:NM_001371225:exon16:c.C4685T:p.T1562M,FRMPD1:NM_014907:exon16:c.C4685T:p.T1562M,FRMPD1:NM_001371224:exon17:c.C4685T:p.T1562M	.	425	1083	14	0	0	14	0.00642202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.0181044419361	0.0005	0.000998403	0.0013	0.0002	0.0004	0.0001	0	0.0009	0.0011	0.0051	0.0010349	160	154602	rs138292555	0.0010	0.0010	0.0008	0.0011	0.0048	0.0009	0.0009	0.0045	0.0043	0.0002	0.0005	0	0.0002	1.879e-05	0.0043	0.0008	0.0009	0.0048	0.0006	0.0006	0.0005	0.0007	0.0066	0.0005	0.0005	0.0048	0.0042	0.0001	0	0.0008	0	0	0	0	0.0006	0.0014	0.0066	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.095	0.58118	M	2.72	0.11947	T	-2.51	0.54546	D	0.65	0.66101	-1.1252	0.02026	T	0.095	0.35871	T	10	0.013040841	0.00278	T	0.018104	0.40048	T	0.182	0.45420	.	.	0.617646156206	0.61455	0.6220305346248838	0.62136	0.644980302806	0.57974	0.547689378262	0.45532	T	0.134961	0.46651	T	-0.292635	0.09373	T	-0.192311	0.55373	T	0.0748716071248055	0.09318	T	0.833117	0.50161	T	0.36147833	0.57948	0.39572087	0.64232	0.36147833	0.57949	0.39572087	0.64232	-4.964	0.36447	T	.	.	0.205	0.43186	B	.;.	.;.	4.557147	0.71774	25.7	0.99917412614993062	0.98518	0.97174	0.73125	D	AEFDBI	0.483911	0.52415	N	0.693957481417395	0.79237	7.035421	0.682701674811385	0.81068	7.440592	0.99999999999977	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.71	5.71	0.89031	4.239000	0.58490	7.674000	0.64943	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.776000	0.36750	0.0:1.0:0.0:0.0	17.358	0.87230	671	0.60868	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.005051	0.001359	0.011696	0.000000	0.008621	0.003049	0.003788	0.08333	1743.83	33	chr9	37746717	.	C	T	1743.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.067;DP=270;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.16;ReadPosRankSum=1.5;SOR=0.653	GT:AD:DP:GQ:PL	0/1:30,66:96:99:1754,0,625	5	0	1	0
chr9	70536143	70536143	G	A	exonic	TRPM3	.	nonsynonymous SNV	TRPM3:NM_206944:exon24:c.C4445T:p.A1482V,TRPM3:NM_001007471:exon25:c.C4934T:p.A1645V,TRPM3:NM_001366141:exon25:c.C4940T:p.A1647V,TRPM3:NM_001366149:exon25:c.C4940T:p.A1647V,TRPM3:NM_020952:exon25:c.C4475T:p.A1492V,TRPM3:NM_206945:exon25:c.C4481T:p.A1494V,TRPM3:NM_206947:exon25:c.C4520T:p.A1507V,TRPM3:NM_001366145:exon26:c.C4970T:p.A1657V,TRPM3:NM_024971:exon26:c.C4511T:p.A1504V,TRPM3:NM_206946:exon26:c.C4550T:p.A1517V,TRPM3:NM_001366147:exon27:c.C5045T:p.A1682V	.	427	1093	2	0	0	2	0.000914077	.	.	.	2826139	not_provided|TRPM3-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.082	0.0100782883907	0.0010	0.000399361	0.0009	0.0006	0.0003	0	0.0005	0.0015	0.0022	6.06e-05	0.001009	156	154602	rs148848073	0.0014	0.0014	0.0015	0.0013	0.0018	0.0014	0.0014	0.0017	0.0017	0.0005	0.0003	0.0006	0	0.0003	0.0010	0.0018	0.0011	6.956e-05	0.0012	0.0012	0.0013	0.0010	0.0020	0.0010	0.0010	0.0018	0.0016	0.0005	0	0.0005	0.0017	0	0.0003	0	0.0020	0.0009	0	0.508	0.10945	T	0.25	0.23707	T	0.0	0.02946	B	0.0	0.01387	B	0.805489	0.09291	N	0.908436	1	0.08975	N	.	.	.	0.65	0.54347	T	-0.56	0.17210	N	0.019	0.04072	-1.0300	0.20454	T	0.081	0.31854	T	10	0.004575461	0.00095	T	0.010078	0.26191	T	0.082	0.23913	.	.	0.148003135375	0.14442	0.25504057731701857	0.25418	0.110524674684	0.12470	0.278896391392	0.07339	T	0.064436	0.33260	T	-0.559684	0.00255	T	-0.580402	0.14509	T	0.00410457952521323	0.00044	T	0.824018	0.48536	T	.	.	.	.	.	.	.	.	-3.462	0.15904	T	.	.	0.061	0.02578	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	-0.099083	0.03647	0.728	0.30438219501477343	0.01665	0.13690	0.17997	N	AEFDBIJ	0.177949	0.30521	N	-1.14289044091177	0.05897	0.270095	-1.10111881511	0.07679	0.374482	0.989057196293109	0.31709	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.77	0.634	0.16889	0.527000	0.22695	-0.459000	0.09050	-0.721000	0.03806	0.000000	0.06391	0.000000	0.08366	0.377000	0.26268	0.4744:0.0:0.5256:0.0	10.887	0.46181	.	.	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08333	1798.83	101	chr9	70536143	.	G	A	1798.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.047;DP=524;ExcessHet=0;FS=3.103;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=1.68;SOR=0.692	GT:AD:DP:GQ:PL	0/1:65,68:133:99:1809,0,1713	5	0	1	0
chr9	74728241	74728241	G	A	exonic	TRPM6	.	nonsynonymous SNV	TRPM6:NM_001177310:exon38:c.C5918T:p.P1973L,TRPM6:NM_001177311:exon38:c.C5918T:p.P1973L,TRPM6:NM_017662:exon38:c.C5933T:p.P1978L	Hypomagnesemia 1, intestinal, Autosomal recessive	.	.	.	.	.	.	.	0.1873	0.56	.	1463023	Intestinal_hypomagnesemia_1|not_provided	MONDO:MONDO:0011176,MedGen:C1865974,OMIM:602014,Orphanet:30924|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.094	0.0162810896942	0.0002	.	5.019e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs145398520	1.987e-05	1.984e-05	8.184e-06	3.167e-05	0.0002	1.394e-05	1.206e-05	0.0001	8.65e-05	0	0	0	5.04e-05	0	0	8.111e-06	4.973e-05	0.0002	2.63e-05	2.627e-05	3.855e-05	1.346e-05	7.245e-05	8.14e-06	5.14e-06	1.921e-05	1.032e-05	7.245e-05	0	0	0	0	0	0	1.47e-05	0	0	0.073	0.34982	T	0.106	0.38016	T	0.374	0.49442	B	0.019	0.33554	B	0.036426	0.24523	N	0.483459	0.999996	0.58761	D	1.75	0.45442	L	3.27	0.06602	T	-4.66	0.79482	D	0.257	0.29081	-1.1320	0.01689	T	0.034	0.14552	T	10	0.14057049	0.26718	T	0.016281	0.37459	T	0.094	0.27141	.	.	0.161926535498	0.15789	0.4788526348657309	0.47805	0.258958016155	0.28446	0.468530595303	0.34478	T	0.65634	0.89632	D	-0.405767	0.02121	T	-0.528484	0.19439	T	0.270603358745575	0.23773	T	0.905209	0.66592	D	0.13388425	0.31125	0.17462479	0.39872	0.13388425	0.31125	0.17462479	0.39871	-8.851	0.66733	D	.	.	0.122	0.30344	B	.;.;.	.;.;.	2.564100	0.33215	19.27	0.95386731495705646	0.26818	0.94770	0.62270	D	AEFGBI	0.672088	0.63861	D	0.215235885248673	0.51938	3.371278	0.270944045897966	0.53849	3.552035	0.999946823644335	0.47345	0.559995	0.30671	0	0.573888	0.26702	0	0.527494	0.11647	0	0.564101	0.26826	0	.	.	5.95	4.1	0.47196	2.945000	0.48735	0.220000	0.16063	0.676000	0.76740	1.000000	0.71638	0.002000	0.18203	0.997000	0.79791	0.1369:0.0:0.725:0.1381	7.333	0.25768	852	0.35056	.;.;MHCK/EF2 kinase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	207.83	34	chr9	74728241	.	G	A	207.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.65;DP=202;ExcessHet=0;FS=1.523;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.7;ReadPosRankSum=1.39;SOR=0.768	GT:AD:DP:GQ:PL	0/1:22,9:31:99:218,0,543	5	0	1	0
chr9	76704797	76704797	C	T	exonic	PRUNE2	.	nonsynonymous SNV	PRUNE2:NM_001308047:exon8:c.G7477A:p.D2493N,PRUNE2:NM_001308048:exon8:c.G7477A:p.D2493N,PRUNE2:NM_015225:exon8:c.G7477A:p.D2493N	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0629902855024	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868110829	2.11e-05	2.326e-05	2.227e-05	1.99e-05	2.752e-05	1.496e-05	1.299e-05	1.952e-05	1.694e-05	0	0	0	0	0	0	2.752e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.015	0.62352	D	0.868	0.47740	P	0.383	0.43945	B	0.177095	0.17207	N	0.562805	1	0.08975	N	2.08	0.57402	M	0.57	0.54347	T	-1.76	0.41618	N	0.235	0.28965	-0.8611	0.51184	T	0.144	0.46623	T	10	0.17811307	0.32879	T	0.06299	0.68828	D	0.117	0.32689	0.197	0.10975	0.597732455086	0.59452	0.2112686557236702	0.21042	0.160582675934	0.18125	0.315999776125	0.12815	T	0.101111	0.48062	T	-0.206356	0.19895	T	-0.534193	0.18869	T	0.392614811658859	0.28663	T	0.858514	0.55989	D	0.09007834	0.21066	0.083932355	0.19272	0.09007834	0.21066	0.083932355	0.19272	-3.873	0.21898	T	.	.	0.100	0.17016	B	.;.;.	.;.;.	1.959285	0.24885	16.56	0.9955723098711825	0.71521	0.13461	0.17869	N	ALL	0.102056	0.20482	N	-0.0956845238539657	0.37582	2.188521	-0.179421833970588	0.32294	1.83587	0.999999977974039	0.74766	0.696267	0.57585	0	0.596394	0.48810	0	0.691665	0.62940	0	0.765457	0.99879	0	.	.	6.08	4.22	0.49153	1.516000	0.35463	0.623000	0.20150	0.599000	0.40250	0.003000	0.16062	0.008000	0.19753	0.286000	0.24163	0.1452:0.5941:0.1273:0.1334	3.892	0.08626	917	0.20147	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	859.83	36	chr9	76704797	.	C	T	859.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.881;DP=255;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=0.687;SOR=0.677	GT:AD:DP:GQ:PL	0/1:36,38:74:99:870,0,985	5	0	1	0
chr9	77339817	77339817	A	G	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon47:c.A6563G:p.Y2188C,VPS13A:NM_001018038:exon48:c.A6680G:p.Y2227C,VPS13A:NM_015186:exon48:c.A6680G:p.Y2227C,VPS13A:NM_033305:exon48:c.A6680G:p.Y2227C	Choreoacanthocytosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	902410	Chorea-acanthocytosis	MONDO:MONDO:0008695,MedGen:C0393576,OMIM:200150,Orphanet:2388	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.610	0.075854238372	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1168343737	1.095e-05	1.094e-05	1.225e-05	9.626e-06	1.349e-05	6.48e-06	5.24e-06	8.1e-06	6.42e-06	0	0	0	0	0	0	1.349e-05	1.656e-05	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	4.824e-05	2.18e-06	8.2e-07	7.99e-06	2.99e-06	4.824e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.000000	1	0.81001	D	3.105	0.87672	M	1.35	0.34648	T	-8.4	0.97265	D	0.826	0.83167	-0.5927	0.65113	T	0.246	0.61530	T	10	0.89075315	0.88417	D	0.075854	0.72389	D	0.610	0.84719	.	.	0.769332471954	0.76722	0.846730066489584	0.84634	0.667108249473	0.59229	0.827715277672	0.86212	D	0.514048	0.82877	D	0.274184	0.80812	D	0.15607	0.80564	D	0.999595105648041	0.98068	D	0.988576	0.96541	D	0.8369109	0.86388	0.83949006	0.90805	0.8369109	0.86390	0.83949006	0.90805	-14.011	0.93571	D	.	.	0.889	0.82035	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.723897	0.76021	26.4	0.99826131335945423	0.90852	0.98826	0.87362	D	AEFGBI	0.929501	0.91535	D	0.86232008870373	0.89798	10.12218	0.846457822837128	0.92808	11.64389	0.999999800984214	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	5.96	5.96	0.96695	8.911000	0.92272	11.290000	0.92000	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	16.422	0.83604	624	0.65661	.;.;Vacuolar protein sorting-associated protein 13, SHR-binding domain;.;.;.;Vacuolar protein sorting-associated protein 13, SHR-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1409.83	40	chr9	77339817	.	A	G	1409.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.74;DP=317;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=1.76;SOR=0.671	GT:AD:DP:GQ:PL	0/1:59,56:115:99:1420,0,1415	5	0	1	0
chr9	78236385	78236385	C	T	exonic	CEP78	.	nonsynonymous SNV	CEP78:NM_001098802:exon1:c.C35T:p.A12V,CEP78:NM_001330691:exon1:c.C35T:p.A12V,CEP78:NM_001330693:exon1:c.C35T:p.A12V,CEP78:NM_001330694:exon1:c.C35T:p.A12V,CEP78:NM_001349838:exon1:c.C35T:p.A12V,CEP78:NM_001349839:exon1:c.C35T:p.A12V,CEP78:NM_001349840:exon1:c.C35T:p.A12V,CEP78:NM_032171:exon1:c.C35T:p.A12V	Cone-rod dystrophy and hearing loss, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	737201	CEP78-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.096	.	0.0037	0.00399361	0.0024	0.0275	0.0026	0	0	0.0009	0	0	0.0008991	139	154602	rs182452644	0.0004	0.0004	0.0005	0.0004	0.0126	0.0004	0.0004	0.0116	0.0112	0.0126	0.0006	0.0033	0	0	0.0005	2.087e-05	0.0010	1.201e-05	0.0034	0.0034	0.0036	0.0031	0.0116	0.0031	0.0030	0.0107	0.0104	0.0116	0	0.0007	0.0035	0	0	0	7.351e-05	0.0009	0.0002	0.026	0.51853	D	0.044	0.50514	D	0.988	0.64070	D	0.482	0.47702	P	0.019302	0.27286	N	0.292022	1	0.08975	N	2.295	0.65404	M	2.67	0.12473	T	-1.72	0.42191	N	0.105	0.11054	-1.0519	0.13872	T	0.022	0.09147	T	10	0.006123394	0.00138	T	.	.	.	0.096	0.27654	.	.	0.589311288323	0.58607	0.5590519171579735	0.55832	0.109964420921	0.12399	0.739881038666	0.72955	T	0.06809	0.33369	T	-0.536882	0.00350	T	-0.532939	0.18993	T	0.0416529832053052	0.03991	T	0.816118	0.47137	T	0.12738317	0.29809	0.24214762	0.49628	0.12738317	0.29809	0.24214762	0.49627	-5.903	0.46019	T	0.4786952424066041	0.55776	0.147	0.53989	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.249792	0.64501	24.7	0.99825410653061986	0.90764	0.81572	0.40948	D	ALL	0.160527	0.28648	N	0.0158201547383202	0.42575	2.567823	-0.0439540415185767	0.37753	2.214762	0.999999969326173	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.98	3.09	0.34677	1.843000	0.38900	3.131000	0.36441	0.589000	0.31548	0.997000	0.40164	1.000000	0.68203	0.987000	0.62547	0.0:0.6586:0.1625:0.1789	5.625	0.16754	971	0.05719	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003027	0.000000	0.006793	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	828.83	36	chr9	78236385	.	C	T	828.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.226;DP=215;ExcessHet=0;FS=2.526;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.25;ReadPosRankSum=-0.523;SOR=1.179	GT:AD:DP:GQ:PL	0/1:22,29:51:99:839,0,533	5	0	1	0
chr9	89319680	89319680	C	T	exonic	SECISBP2	.	nonsynonymous SNV	SECISBP2:NM_001282688:exon2:c.C65T:p.P22L,SECISBP2:NM_001354696:exon2:c.C65T:p.P22L,SECISBP2:NM_001354697:exon2:c.C65T:p.P22L,SECISBP2:NM_001354698:exon2:c.C65T:p.P22L,SECISBP2:NM_024077:exon2:c.C65T:p.P22L	Thyroid hormone metabolism, abnormal	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.612	0.111108770028	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1195959026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000008	0.62929	D	0.000000	0.999977	0.81001	D	2.395	0.69210	M	-2.32	0.87830	D	-6.49	0.91564	D	0.778	0.77507	0.488	0.90384	D	0.681	0.88985	D	10	0.7926189	0.78792	D	0.111109	0.78875	D	0.612	0.84826	0.449	0.50957	0.941015724423	0.94040	0.29457152982394313	0.29370	0.376980688921	0.39134	0.701998174191	0.67433	T	0.314651	0.68631	T	0.376744	0.88499	D	0.30339	0.88354	D	0.994845151901245	0.86394	D	0.907309	0.67223	D	0.68922126	0.77470	0.66336745	0.80267	0.68922126	0.77471	0.66336745	0.80268	-6.432	0.49759	T	0.8316486505881618	0.90232	0.662	0.71427	P	.	.	5.120374	0.85639	28.7	0.99835515603613068	0.91628	0.57979	0.30519	D	ALL	0.344666	0.44008	N	0.506259612931756	0.67460	5.084491	0.481112878125281	0.66739	4.991499	0.999999999996087	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	4.47	4.47	0.53770	3.628000	0.54000	7.473000	0.59173	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.927000	0.46353	0.0:1.0:0.0:0.0	15.844	0.78649	950	0.11238	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	881.83	34	chr9	89319680	.	C	T	881.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.887;DP=250;ExcessHet=0;FS=4.689;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=-0.939;SOR=1.27	GT:AD:DP:GQ:PL	0/1:32,37:69:99:892,0,824	5	0	1	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K,SPTLC1:NM_006415:exon4:c.C306G:p.N102K,SPTLC1:NM_178324:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.845	0.399896509883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0068	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0012	4.477e-05	0.0003	0.0002	1.873e-05	0.0009	0.0013	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.73	0.95458	D	-5.47	0.87143	D	0.946	0.96984	1.004	0.97255	D	0.941	0.98064	D	10	0.97626525	0.97408	D	0.399897	0.93374	D	0.845	0.95175	0.798	0.91802	0.945416172085	0.94484	0.9614716476571766	0.96133	1.13632118652	0.78799	0.737543225288	0.72611	T	0.97255	0.99710	D	0.219858	0.75763	D	0.0780339	0.75447	D	0.995089709758759	0.86803	D	0.978602	0.92442	D	0.9519136	0.96460	0.8880654	0.94130	0.9519136	0.96460	0.8880654	0.94130	-14.216	0.93737	D	0.860758186576928	0.92428	0.988	0.93037	P	.;.	.;.	4.020987	0.59386	24.1	0.9926344721683531	0.57289	0.83408	0.42527	D	AEFBI	0.256177	0.37516	N	0.211284656944223	0.51746	3.353416	0.0637648407406021	0.42742	2.59063	0.00398181740670549	0.10368	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	2.15	0.26590	1.717000	0.37612	4.300000	0.42938	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3508:0.0:0.6492:0.0	10.600	0.44552	892	0.26670	Aminotransferase, class I/classII;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3429.55	310	chr9	92080918	.	G	C	3429.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-3.955;DP=2102;ExcessHet=11.5949;FS=412.655;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.83;ReadPosRankSum=1.44;SOR=13.596	GT:AD:DP:GQ:PL	0/1:178,101:314:99:346,0,3192	0	0	6	0
chr9	95107205	95107205	T	C	exonic	FANCC	.	nonsynonymous SNV	FANCC:NM_000136:exon14:c.A1394G:p.Q465R,FANCC:NM_001243743:exon14:c.A1394G:p.Q465R	Fanconi anemia, complementation group C, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	YES	138036	Malignant_tumor_of_breast|Hereditary_cancer-predisposing_syndrome|Fanconi_anemia|Fanconi_anemia_complementation_group_A|not_provided|Fanconi_anemia_complementation_group_C|not_specified	MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MedGen:C3661900|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645,Orphanet:84|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.026	0.00197435216087	0.0033	0.00159744	0.0010	0.0100	0.0005	0	0	4.526e-05	0.0023	0.0003	0.0008473	131	154602	rs1800368	0.0004	0.0004	0.0004	0.0003	0.0109	0.0003	0.0003	0.0100	0.0096	0.0109	0.0007	3.826e-05	0	3.744e-05	0.0007	4.946e-05	0.0012	0.0001	0.0033	0.0033	0.0035	0.0031	0.0111	0.0030	0.0029	0.0103	0.0099	0.0111	0	0.0012	0	0	0	0.0068	0.0001	0.0038	0.0002	0.898	0.02436	T	0.702	0.05685	T	0.0	0.02946	B	0.0	0.01387	B	0.523611	0.05216	N	1.266990	1	0.08975	N	-1.39	0.00611	N	0.93	0.44065	T	0.76	0.01978	N	0.022	0.00372	-1.0685	0.09746	T	0.014	0.05561	T	10	0.003341049	0.00058	T	0.001974	0.03535	T	0.026	0.05648	.	.	0.345405024496	0.34151	0.0338063059384584	0.03328	0.0554409255693	0.06136	0.204421445727	0.00596	T	0.051744	0.28966	T	-0.749748	0.00018	T	-0.838707	0.01118	T	0.000801356739117568	0.00007	T	0.174183	0.01674	T	0.017022874	0.00240	0.023923488	0.00407	0.01600127	0.00170	0.024342967	0.00452	-4.1	0.25290	T	0.03892437941898787	0.00303	0.057	0.00553	B	.;.	.;.	-1.130889	0.00604	0.016	0.25456442599114076	0.01174	0.02627	0.07216	N	AEFDGBHCI	0.023806	0.01380	N	-2.33819197817903	0.00037	0.001602744	-2.33658487583138	0.00055	0.002413096	0.999999999998184	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.80507	0.99327	0	0.692231	0.68500	0	.	.	4.67	-9.13	0.00601	-1.725000	0.01963	-1.700000	0.04889	-1.666000	0.00806	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1118:0.2002:0.1587:0.5293	3.849	0.08457	167	0.93508	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001511	0.010101	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1156.83	34	chr9	95107205	.	T	C	1156.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.931;DP=266;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=-0.862;SOR=0.716	GT:AD:DP:GQ:PL	0/1:37,52:89:99:1167,0,964	5	0	1	0
chr9	96937146	96937146	G	C	exonic	NUTM2G	.	nonsynonymous SNV	NUTM2G:NM_001045477:exon5:c.G1065C:p.K355N,NUTM2G:NM_001170741:exon5:c.G1065C:p.K355N	.	412	1099	11	0	0	11	0.00497963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	0.0075	0.00219649	0.0080	0.0013	0.0017	0.0004	0.0044	0.0125	0.0057	0.0040	0.0071344	1103	154602	rs201133792	0.0096	0.0096	0.0096	0.0096	0.0110	0.0094	0.0094	0.0108	0.0107	0.0012	0.0028	0.0163	0.0001	0.0060	0.0026	0.0110	0.0070	0.0048	0.0073	0.0073	0.0072	0.0073	0.0118	0.0069	0.0068	0.0112	0.0109	0.0016	0.0395	0.0043	0.0150	0	0.0046	0	0.0118	0.0047	0.0044	0.06	0.49613	T	0.322	0.37310	T	0.999	0.77913	D	0.948	0.68536	D	0.353820	0.04262	N	1.449150	1	0.08975	N	2.19	0.61577	M	1.87	0.24085	T	-1.34	0.33401	N	0.143	0.14622	-0.9917	0.32167	T	0.083	0.32585	T	8	0.004984796	0.00107	T	.	.	.	0.040	0.10527	0.295	0.25881	0.0297737177859	0.01360	0.04538232013452208	0.04482	.	.	0.518427968025	0.41405	T	0.004452	0.03857	T	-0.662091	0.00061	T	-0.713436	0.05119	T	0.0117335170477585	0.00180	T	0.688231	0.29741	T	0.19152334	0.40783	0.13347079	0.32004	0.19152334	0.40783	0.13347079	0.32003	-5.744	0.46389	T	.	.	0.462	0.62791	A	.;.	.;.	1.693893	0.21581	15.26	0.99467177670060147	0.66154	0.02852	0.07611	N	AEFCI	0.029431	0.02777	N	-0.404442987366544	0.25313	1.373185	-0.695335263320555	0.17077	0.9063873	9.12418218255995E-6	0.01202	0.554377	0.28877	0	0.54472	0.11627	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	.	.	.	0.702000	0.25307	0.139000	0.15146	0.207000	0.17954	0.055000	0.21596	0.002000	0.18203	0.016000	0.10718	.	.	.	803	0.44167	.;Nuclear Testis  protein, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003326	0.000000	0.005450	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	699.83	34	chr9	96937146	.	G	C	699.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.436;DP=226;ExcessHet=0;FS=9.021;MLEAC=1;MLEAF=0.083;MQ=52.33;MQRankSum=-3.398;QD=13.72;ReadPosRankSum=-2.122;SOR=0.132	GT:AD:DP:GQ:PL	0/1:23,28:51:99:710,0,624	5	0	1	0
chr9	101477011	101477011	A	C	exonic	PGAP4	.	nonsynonymous SNV	PGAP4:NM_001303108:exon2:c.T82G:p.F28V,PGAP4:NM_001371233:exon2:c.T82G:p.F28V,PGAP4:NM_032342:exon2:c.T82G:p.F28V,PGAP4:NM_001303107:exon3:c.T82G:p.F28V	.	400	1121	1	0	0	1	0.000445831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	0.0069	0.00958466	0.0024	0.0261	0.0012	0	0	1.516e-05	0	0.0001	0.0022898	354	154602	rs80250728	0.0008	0.0008	0.0009	0.0007	0.0285	0.0007	0.0007	0.0270	0.0264	0.0285	0.0011	0	0	0	0.0011	6.295e-06	0.0018	0.0001	0.0070	0.0070	0.0073	0.0067	0.0247	0.0066	0.0065	0.0235	0.0230	0.0247	0	0.0016	0	0	0	0.0034	2.941e-05	0.0043	0	0.213	0.19430	T	0.404	0.14818	T	0.0	0.02946	B	0.001	0.04355	B	0.003405	0.34985	N	0.284898	0.83035	0.28767	N	0.205	0.09354	N	.	.	.	-0.32	0.12283	N	0.16	0.16725	-1.0710	0.09194	T	0.012	0.04653	T	9	0.0028095543	0.00044	T	.	.	.	0.037	0.09474	.	.	0.0666544352282	0.05500	0.546552376077697	0.54581	0.518840836325	0.49725	0.558231949806	0.47018	T	0.01941	0.15470	T	-0.567274	0.00230	T	-0.568029	0.15631	T	0.0155438330279971	0.00353	T	0.672333	0.28093	T	0.04455221	0.07143	0.035835132	0.02910	0.04455221	0.07142	0.035835132	0.02909	-2.631	0.06742	T	.	.	0.104	0.18663	B	.;.;.	.;.;.	2.231896	0.28490	17.81	0.9668227092640993	0.30704	0.89177	0.49486	D	AEFDBI	0.448194	0.50352	N	-0.434210411551718	0.24279	1.309799	-0.226082207488269	0.30605	1.724637	0.999532538444472	0.40238	0.732398	0.92422	0	0.59043	0.45803	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.63	3.18	0.35615	1.505000	0.35344	4.064000	0.41610	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.6591:0.1643:0.1765:0.0	4.627	0.11868	834	0.38640	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.005051	0.004076	0.002924	0.000000	0.008621	0.000000	0.000000	0.08333	1268.83	35	chr9	101477011	.	A	C	1268.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.189;DP=295;ExcessHet=0;FS=3.732;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-0.376;SOR=0.828	GT:AD:DP:GQ:PL	0/1:48,52:100:99:1279,0,1166	5	0	1	0
chr9	104598728	104598728	C	G	exonic	OR13C5	.	nonsynonymous SNV	OR13C5:NM_001004482:exon1:c.G686C:p.S229T	.	434	1086	2	0	0	2	0.000919963	.	.	.	700709	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.017	.	0.0097	0.0129792	0.0031	0.0336	0.0018	0	0	8.992e-05	0.0033	0.0001	0.0031242	483	154602	rs73508187	0.0011	0.0011	0.0012	0.0009	0.0370	0.0010	0.0010	0.0352	0.0346	0.0370	0.0019	0	0	0	0.0016	5.666e-05	0.0024	0.0002	0.0091	0.0091	0.0096	0.0086	0.0314	0.0087	0.0085	0.0300	0.0294	0.0314	0	0.0035	0	0	0	0	0.0001	0.0076	0.0002	0.033	0.44358	D	0.185	0.28958	T	0.075	0.24198	B	0.139	0.33484	B	0.986370	0.07874	U	1.008970	1	0.08975	N	1.17	0.29769	L	1.12	0.38718	T	-0.99	0.26200	N	0.052	0.02366	-0.9728	0.36605	T	0.015	0.06090	T	10	0.0040693283	0.00079	T	.	.	.	0.017	0.02790	.	.	0.376089632046	0.37223	0.11640499819145005	0.11568	0.27843950932	0.30327	0.177689597011	0.00074	T	0.002802	0.02196	T	-0.715189	0.00030	T	-0.774334	0.02629	T	0.00468554343554344	0.00050	T	0.487551	0.14930	T	0.042243537	0.06371	0.04149688	0.04728	0.042243537	0.06371	0.04149688	0.04728	-4.333	0.28637	T	.	.	0.074	0.04932	B	.	.	0.353942	0.07267	3.873	0.91077780622604088	0.20330	0.00500	0.02358	N	AEFI	0.047256	0.07937	N	-1.11282026295405	0.06413	0.2951761	-1.2017421247507	0.05882	0.2815481	1.47301043707482E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.03	-1.21	0.09033	-3.059000	0.00686	-20.000000	0.00162	-0.262000	0.06890	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2959:0.4158:0.2883	5.192	0.14538	892	0.26670	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004028	0.010101	0.008152	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1745.83	118	chr9	104598728	.	C	G	1745.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.39;DP=653;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=0.055;SOR=0.662	GT:AD:DP:GQ:PL	0/1:66,62:128:99:1756,0,2065	5	0	1	0
chr9	106974250	106974250	T	C	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.T4214C:p.I1405T,ZNF462:NM_021224:exon9:c.T6809C:p.I2270T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.0225480179474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.0	0.92824	D	0.998	0.73220	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.575	0.39704	L	3.38	0.05778	T	-0.68	0.36980	N	0.873	0.87049	-1.0740	0.08556	T	0.061	0.25455	T	10	0.3783521	0.54005	T	0.022548	0.45449	T	0.332	0.65424	0.419	0.46036	0.043077524339	0.03247	0.5838881706070325	0.58317	2.02329959298	0.94019	0.924512147903	0.98647	D	0.011805	0.11071	T	0.105501	0.64882	D	-0.0862318	0.64445	T	0.798904538154602	0.46279	D	0.963604	0.86445	D	0.1377539	0.31884	0.16932428	0.38958	0.1377539	0.31884	0.16932428	0.38957	-11.857	0.84147	D	.	.	0.989	0.94382	P	.;.;.	.;.;.	4.830708	0.78774	27.0	0.99799257148110543	0.88461	0.98380	0.82188	D	AEFBI	0.909931	0.86721	D	0.462121070414506	0.64895	4.754563	0.527672054984196	0.69859	5.42084	0.999999998491949	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	7.645000	0.82580	6.207000	0.54965	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	15.905	0.79209	677	0.60274	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	743.02	87	chr9	106974250	.	T	C	743.02	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.647;DP=598;ExcessHet=1.383;FS=389.593;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.89;ReadPosRankSum=1.27;SOR=9	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,16:106:9:0|1:106974250_T_C:9,0,2961:106974250	3	0	3	0
chr9	106974252	106974252	G	A	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.G4216A:p.D1406N,ZNF462:NM_021224:exon9:c.G6811A:p.D2271N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	0.0408367045235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.9	0.50570	L	3.42	0.05507	T	-1.1	0.35991	N	0.785	0.79503	-1.1146	0.02703	T	0.065	0.26772	T	10	0.41275227	0.56336	T	0.040837	0.59597	D	0.240	0.54500	0.441	0.49648	0.138757226776	0.13463	0.7163974984860814	0.71582	1.77884305262	0.91374	0.91669100523	0.98061	D	0.018486	0.14891	T	-0.186331	0.22798	T	-0.505428	0.21785	T	0.864430676400788	0.51459	D	0.975002	0.91107	D	0.1619377	0.36236	0.1629017	0.37816	0.1619377	0.36236	0.1629017	0.37816	-10.165	0.76340	D	.	.	0.990	0.93507	P	.;.;.	.;.;.	5.368506	0.90010	31	0.99920868308788402	0.98721	0.99180	0.92409	D	AEFBI	0.912600	0.87345	D	0.658390178150991	0.76912	6.574868	0.70769665526324	0.82963	7.898997	0.999999999998965	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	9.564000	0.97283	11.869000	0.98523	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	19.759	0.96302	677	0.60274	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	734.89	37	chr9	106974252	.	G	A	734.89	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-4.601;DP=532;ExcessHet=1.383;FS=389.593;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.87;ReadPosRankSum=1.27;SOR=9	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,16:106:9:0|1:106974250_T_C:9,0,2961:106974250	4	0	2	0
chr9	111410111	111410111	G	C	exonic	ECPAS	.	nonsynonymous SNV	ECPAS:NM_001363756:exon22:c.C2480G:p.S827C,ECPAS:NM_001364931:exon22:c.C2498G:p.S833C,ECPAS:NM_001364929:exon23:c.C2480G:p.S827C,ECPAS:NM_001364930:exon23:c.C2480G:p.S827C	.	.	.	.	.	.	.	.	.	.	.	4127958	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.269	0.0134913317445	.	.	6.709e-05	0	0	0.0007	0	3.112e-05	0	0	2.59e-05	4	154602	rs763180582	2.063e-05	2.052e-05	2.596e-05	1.523e-05	0.0002	1.463e-05	1.27e-05	6.542e-05	4.469e-05	0	2.293e-05	0	0.0002	0	0	5.413e-06	0.0003	0	2.628e-05	2.627e-05	2.569e-05	2.69e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.939e-05	0.0005	0	0.028	0.47320	D	0.044	0.49663	D	.	.	.	.	.	.	0.104548	0.19698	N	0.565050	0.521443	0.31900	D	.	.	.	-0.25	0.67011	T	-2.63	0.59226	D	0.359	0.40063	-0.5996	0.64834	T	0.264	0.63534	T	10	0.20476255	0.36679	T	0.013491	0.32933	T	0.269	0.58381	0.532	0.64002	0.405336283486	0.40149	0.2573678270571798	0.25650	0.586809190243	0.54266	0.477605909109	0.35727	T	0.11466	0.43265	T	-0.243494	0.14907	T	-0.361837	0.37840	T	0.297230757763721	0.24889	T	0.933807	0.75196	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.11941	B	.;.;.	.;.;.	4.717274	0.75839	26.4	0.98639543969892263	0.44028	0.96261	0.68280	D	AEFBI	0.461862	0.51145	N	0.441689305118433	0.63734	4.612809	0.554762301491997	0.71729	5.699469	0.99947627789173	0.39898	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.16	6.16	0.99302	4.009000	0.56822	11.809000	0.96880	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.860	0.99763	895	0.25842	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	632.83	34	chr9	111410111	.	G	C	632.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.88;DP=218;ExcessHet=0;FS=1.154;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=2;SOR=0.617	GT:AD:DP:GQ:PL	0/1:20,25:45:99:643,0,397	5	0	1	0
chr9	112262562	112262562	T	G	exonic	PTBP3	.	nonsynonymous SNV	PTBP3:NM_001244896:exon4:c.A188C:p.Q63P,PTBP3:NM_001375920:exon4:c.A173C:p.Q58P,PTBP3:NM_001163788:exon5:c.A389C:p.Q130P,PTBP3:NM_001244897:exon5:c.A389C:p.Q130P,PTBP3:NM_001244898:exon5:c.A491C:p.Q164P,PTBP3:NM_001375918:exon5:c.A380C:p.Q127P,PTBP3:NM_001163790:exon6:c.A482C:p.Q161P,PTBP3:NM_005156:exon6:c.A473C:p.Q158P	.	425	1073	22	2	0	26	0.0119705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.0345064811117	0.0013	0.00139776	0.0022	9.649e-05	0.0009	0	0.0008	0.0018	0.0044	0.0072	0.0018952	293	154602	rs144595337	0.0014	0.0014	0.0012	0.0016	0.0090	0.0013	0.0013	0.0071	0.0064	0.0002	0.0012	7.662e-05	2.537e-05	0.0011	0.0090	0.0010	0.0021	0.0070	0.0009	0.0009	0.0008	0.0010	0.0048	0.0008	0.0008	0.0033	0.0028	0.0002	0	0.0014	0	0	0.0010	0.0034	0.0011	0.0014	0.0048	0.019	0.50132	D	0.094	0.41573	T	0.991	0.64070	D	0.926	0.66095	D	0.000102	0.50451	D	0.178585	0.999837	0.49637	D	2.65	0.77586	M	0.34	0.79666	T	-2.78	0.70314	D	0.385	0.46462	0.432	0.89573	D	0.663	0.88287	D	10	0.008808792	0.00200	T	0.034506	0.55723	D	0.217	0.51112	.	.	0.610410000811	0.60727	0.668210128799659	0.66759	0.155271682527	0.17525	0.427526414394	0.28870	T	0.229421	0.59524	T	-0.239945	0.15356	T	-0.113296	0.62348	T	0.0578514235064228	0.06826	T	0.875612	0.58729	D	0.66151863	0.75980	0.6524627	0.79661	0.66151863	0.75981	0.6524627	0.79662	-7.902	0.62835	D	.	.	0.060	0.10304	B	.;.;.;.;.;.	.;.;.;.;.;.	3.348243	0.46170	22.3	0.99523916324266826	0.69407	0.94007	0.59833	D	AEFBHCI	0.724574	0.67383	D	0.597539304070475	0.73020	5.898496	0.602351042160426	0.75112	6.253018	0.999999954581131	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.86	5.86	0.93936	2.995000	0.49129	4.242000	0.42712	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.267	0.82413	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	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	0.011089	0.015152	0.012228	0.020468	0.000000	0.008621	0.012270	0.000000	0.08333	349.83	34	chr9	112262562	.	T	G	349.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.568;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-0.299;SOR=0.986	GT:AD:DP:GQ:PL	0/1:14,14:28:99:360,0,352	5	0	1	0
chr9	114323233	114323233	G	A	exonic	ORM1	.	nonsynonymous SNV	ORM1:NM_000607:exon1:c.G100A:p.A34T	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	.	0.0103	.	0.0042	0.0370	0.0027	0.0003	0	0.0004	0	0.0003	3.84e-05	1	26028	rs141253635	0.0013	0.0014	0.0014	0.0011	0.0296	0.0012	0.0012	0.0281	0.0275	0.0296	0.0014	7.756e-05	7.69e-05	5.732e-05	0.0016	0.0006	0.0021	0.0001	0.0084	0.0090	0.0085	0.0082	0.0285	0.0080	0.0078	0.0271	0.0266	0.0285	0	0.0023	0	0	9.762e-05	0	0.0006	0.0054	0	0.121	0.27783	T	0.039	0.51112	D	.	.	.	.	.	.	0.650577	0.10517	N	0.837171	0.999999	0.08975	N	.	.	.	3.04	0.08810	T	-1.79	0.42191	N	0.091	0.06990	-1.0000	0.29917	T	0.076	0.30429	T	10	0.0045843422	0.00095	T	.	.	.	0.137	0.36984	.	.	0.268660756437	0.26461	0.6255975630557077	0.62492	1.83809565209	0.92136	0.288228958845	0.08665	T	.	.	.	-0.641559	0.00082	T	-0.669957	0.07611	T	0.0265401202684484	0.01480	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.20508	B	.	.	2.471438	0.31856	18.87	0.80802883494744471	0.13376	0.09855	0.15515	N	AEFDGBI	0.693481	0.65280	D	0.12524503097043	0.47643	2.987128	-0.0143995576309607	0.39063	2.310597	0.999999534387303	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.31	5.31	0.75063	1.331000	0.33398	2.285000	0.31922	0.675000	0.71128	0.009000	0.18154	0.050000	0.21810	0.290000	0.24260	0.0:0.0:1.0:0.0	14.845	0.69884	595	0.68488	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003513	0.006667	0.004110	0.004237	0.000000	0.000000	0.000000	0.000000	0.08333	529.83	36	chr9	114323233	.	G	A	529.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.13;DP=322;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=51.82;MQRankSum=-1.563;QD=3.6;ReadPosRankSum=0.657;SOR=0.634	GT:AD:DP:GQ:PL	0/1:114,33:147:99:540,0,2772	5	0	1	0
chr9	116863593	116863593	G	A	exonic	ASTN2	.	nonsynonymous SNV	ASTN2:NM_014010:exon10:c.C1877T:p.S626L,ASTN2:NM_001365068:exon11:c.C2030T:p.S677L,ASTN2:NM_001365069:exon11:c.C2018T:p.S673L	.	425	1091	6	0	0	6	0.00274223	.	.	.	723289	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.170	0.0279527608247	0.0014	0.00299521	0.0019	0.0004	0.0007	0	0	0.0020	0.0044	0.0046	0.0018693	289	154602	rs56153291	0.0019	0.0019	0.0018	0.0021	0.0047	0.0019	0.0019	0.0043	0.0042	0.0001	0.0008	0	0	0.0003	0.0017	0.0020	0.0017	0.0047	0.0014	0.0014	0.0013	0.0016	0.0054	0.0013	0.0012	0.0038	0.0032	0.0003	0	0.0013	0	0	0.0002	0	0.0022	0.0014	0.0054	0.001	0.78490	D	0.003	0.76473	D	0.384	0.44570	B	0.023	0.29851	B	0.000471	0.44119	D	0.155416	0.97076	0.81001	D	0.55	0.14455	N	2.69	0.14160	T	-2.2	0.49519	N	0.663	0.67218	-1.0569	0.12543	T	0.029	0.12585	T	9	0.008099645	0.00184	T	0.027953	0.50703	D	0.170	0.43303	.	.	0.043077524339	0.03247	0.6465180366261594	0.64586	0.206788434855	0.23110	0.520252048969	0.41662	T	0.040822	0.25655	T	-0.39092	0.02654	T	-0.331971	0.41249	T	0.063643542392944	0.07729	T	0.955504	0.83071	D	0.19052653	0.40642	0.25663295	0.51367	0.19052653	0.40641	0.25663295	0.51366	-7.829	0.65392	D	.	.	0.212	0.43989	B	.;.;.	.;.;.	4.993013	0.82791	27.9	0.9987140796684989	0.94902	0.98812	0.87175	D	AEFI	0.865868	0.78510	D	0.31843626131489	0.57094	3.875675	0.46635079093844	0.65774	4.866404	0.999999999999997	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.71	5.71	0.89031	9.559000	0.97245	11.747000	0.95320	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.916000	0.45140	0.0:0.0:1.0:0.0	19.838	0.96663	773	0.48803	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	687.83	34	chr9	116863593	.	G	A	687.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.706;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=0.032;SOR=0.614	GT:AD:DP:GQ:PL	0/1:27,30:57:99:698,0,629	5	0	1	0
chr9	121027200	121027200	T	C	exonic	C5	.	nonsynonymous SNV	C5:NM_001317163:exon8:c.A851G:p.D284G,C5:NM_001317164:exon8:c.A833G:p.D278G,C5:NM_001735:exon8:c.A833G:p.D278G	C5 deficiency	.	.	.	.	.	.	.	.	.	.	1441825	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.169	0.00862569264018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.498	0.07797	T	0.708	0.05563	T	0.0	0.02946	B	0.001	0.04355	B	0.061589	0.22161	N	0.420134	1	0.08975	N	0.705	0.18577	N	1.49	0.31470	T	-1.75	0.41428	N	0.182	0.19728	-0.9667	0.37874	T	0.032	0.13679	T	10	0.051216394	0.04968	T	0.008626	0.22804	T	0.169	0.43123	0.37	0.38013	0.399017061211	0.39518	0.4910320544788733	0.49024	0.201784397796	0.22587	0.297722518444	0.10063	T	0.055528	0.30031	T	-0.234555	0.16050	T	-0.574698	0.15021	T	0.0917299944668771	0.11422	T	0.606739	0.22845	T	0.35035124	0.57095	0.13662538	0.32678	0.35035124	0.57095	0.13662538	0.32677	-3.177	0.12202	T	.	.	0.073	0.04558	B	.	.	1.272134	0.16708	12.71	0.98134091352585751	0.38547	0.04373	0.09948	N	AEFDGBI	0.093467	0.18912	N	-0.662194440803249	0.17106	0.8774301	-0.490050817533751	0.22426	1.218038	0.999994438485501	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.75	4.63	0.57175	-0.087000	0.11181	-0.054000	0.12508	0.661000	0.55757	0.000000	0.06391	0.000000	0.08366	0.999000	0.91618	0.0:0.147:0.182:0.671	4.341	0.10546	951	0.11083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	510.83	34	chr9	121027200	.	T	C	510.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.64;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=0.073;SOR=0.892	GT:AD:DP:GQ:PL	0/1:14,19:33:99:521,0,308	5	0	1	0
chr9	122477575	122477575	T	C	exonic	OR1J1	.	nonsynonymous SNV	OR1J1:NM_001004451:exon1:c.A352G:p.M118V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.00695975481108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.86255	D	0.000001	0.84330	D	0.000000	0.856272	0.35308	D	3.65	0.94181	H	5.46	0.00959	T	-3.77	0.71397	D	0.705	0.70878	-1.0657	0.10386	T	0.024	0.10239	T	10	0.64833033	0.69456	D	0.00696	0.18430	T	0.259	0.57090	0.183	0.09131	0.532263770911	0.52874	0.10921021106781896	0.10850	0.151158153704	0.17061	0.249292507768	0.03693	T	0.03142	0.22034	T	-0.0328345	0.47004	T	-0.284941	0.46297	T	0.990391850471497	0.80614	D	0.861714	0.55578	D	0.8169993	0.85018	0.8102234	0.88914	0.8169993	0.85020	0.8102234	0.88915	-8.552	0.64773	D	.	.	0.111	0.21428	B	.	.	4.176263	0.62829	24.5	0.99418877042680465	0.63645	0.97301	0.73892	D	AEFGBHCI	0.878329	0.80352	D	0.892949663224113	0.91409	10.86946	0.770801996877057	0.87701	9.313894	0.999999993559748	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.46	4.46	0.53567	7.922000	0.86947	1.595000	0.27551	0.604000	0.46097	1.000000	0.71638	0.981000	0.30433	0.078000	0.17132	0.0:0.0:0.0:1.0	13.203	0.59201	950	0.11238	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	.	.	.	.	.	.	.	.	0.08333	1320.83	33	chr9	122477575	.	T	C	1320.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.489;DP=314;ExcessHet=0;FS=0.688;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=-1.261;SOR=0.621	GT:AD:DP:GQ:PL	0/1:61,56:117:99:1331,0,1759	5	0	1	0
chr9	122519361	122519361	C	G	exonic	OR1J4	.	stopgain	OR1J4:NM_001004452:exon1:c.C221G:p.S74X	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.589e-05	0	0.0002	0	0	1.498e-05	0.0011	0.0002	5.17e-05	8	154602	rs769943830	7.183e-05	7.182e-05	3.403e-05	0.0001	0.0014	6.047e-05	5.595e-05	0.0007	0.0005	0	2.236e-05	0	0	0	0.0014	2.878e-05	0.0002	0.0006	3.939e-05	3.937e-05	3.855e-05	4.028e-05	0.0006	1.714e-05	1.129e-05	0.0002	9.022e-05	0	0	0.0001	0	0	0	0	1.47e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	0.012493	0.29156	U	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.018	0.00252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336314	0.85590	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.553838	0.95394	35	0.99511189947466439	0.68618	0.50365	0.28646	D	AEFBI	0.070454	0.13986	N	0.764685219721609	0.83857	8.128764	0.535429621330512	0.70392	5.498263	0.998530719155841	0.37148	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.54	5.54	0.82907	0.930000	0.28458	1.933000	0.29783	0.591000	0.32079	0.000000	0.06391	0.005000	0.19230	0.174000	0.21107	0.0:1.0:0.0:0.0	18.490	0.90792	919	0.19497	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	3425.83	35	chr9	122519361	.	C	G	3425.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.419;DP=419;ExcessHet=0;FS=2.364;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.16;ReadPosRankSum=0.804;SOR=0.608	GT:AD:DP:GQ:PL	0/1:90,122:212:99:3436,0,2325	5	0	1	0
chr9	122724732	122724732	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T743C:p.V248A	.	428	916	178	0	0	178	0.0885572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00143063714583	.	.	6.622e-05	0	0.0002	0.0001	0.0002	6.017e-05	0	0	3.84e-05	1	26028	rs748975619	0.0001	0.0021	7.836e-05	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	9.132e-05	0.0002	7.963e-05	0.0002	4.349e-05	0.0008	0.0002	0.0003	3.688e-05	0.0002	0.0017	0.0001	0.0002	0.0005	0.0001	8.825e-05	8.643e-05	4.843e-05	0.0001	0	0.0002	0	0.0002	0.0003	0	0.0001	0	0.0005	0.066	0.36113	T	0.063	0.45110	T	0.002	0.09854	B	0.012	0.16012	B	0.119040	0.19091	N	0.433255	1	0.08975	N	2.24	0.63355	M	8.47	0.00218	T	-3.71	0.70674	D	0.163	0.17140	-0.9813	0.34701	T	0.000	0.00152	T	10	0.08632538	0.14663	T	0.001431	0.02139	T	0.060	0.17295	.	.	0.380730819819	0.37686	0.050310918284802233	0.04974	0.137390497862	0.15494	0.204048782587	0.00584	T	0.018055	0.14619	T	-0.26113	0.12768	T	-0.612872	0.11753	T	0.0930222347378731	0.11572	T	0.328467	0.06836	T	0.12669528	0.29668	0.18975647	0.42339	0.12669528	0.29667	0.18975647	0.42339	-5.477	0.41653	T	.	.	0.162	0.35767	B	.	.	1.361823	0.17710	13.32	0.37116804741921844	0.02427	0.22928	0.21909	N	AEFGBI	0.092843	0.18792	N	-1.18873539693136	0.05170	0.2350358	-1.18788360110161	0.06111	0.2931782	0.00732444700759022	0.11439	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	3.09	0.34677	0.354000	0.19885	0.254000	0.16463	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.1836:0.0:0.8164	7.537	0.26888	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.066465	0.232323	0.014946	0.032164	0.150000	0.008621	0.100610	0.034091	0.5	1959.82	287	chr9	122724732	.	T	C	1959.82	.	AC=3;AF=0.5;AN=6;BaseQRankSum=8;DP=1745;ExcessHet=1.383;FS=37.334;MLEAC=4;MLEAF=0.667;MQ=58.6;MQRankSum=-14.14;QD=2.32;ReadPosRankSum=-6.488;SOR=5.145	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:210,28:238:99:0|1:122724732_T_C:527,0,8655:122724732	0	0	3	3
chr9	122724738	122724738	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T749C:p.V250A	.	428	1012	82	0	0	82	0.0389364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00138298223274	.	.	8.242e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs773750205	4.128e-06	0.0017	4.098e-06	4.158e-06	4.494e-05	1.49e-06	9.8e-07	7.45e-06	2.79e-06	2.995e-05	4.494e-05	0	2.533e-05	0	0	9.039e-07	1.665e-05	0	2.725e-05	0.0009	3.982e-05	1.4e-05	0.0002	8.37e-06	5.29e-06	.	.	2.5e-05	0	0	0	0	0.0002	0	0	0	0.0002	0.56	0.06381	T	0.334	0.18340	T	0.0	0.02946	B	0.003	0.08700	B	0.363490	0.04318	N	1.430160	1	0.08975	N	-0.355	0.03127	N	0.93	0.44065	T	0.28	0.04233	N	0.048	0.01999	-1.0082	0.27479	T	0.042	0.17994	T	10	0.027532607	0.00898	T	0.001383	0.02011	T	0.010	0.01040	.	.	0.146414634003	0.14194	0.029921180382566498	0.02941	0.133905216648	0.15082	0.228572815657	0.01864	T	0.008154	0.07505	T	-0.373075	0.03441	T	-0.773673	0.02649	T	0.0352781535904976	0.02857	T	0.0471953	0.00337	T	0.018524058	0.00374	0.028399432	0.01073	0.018524058	0.00374	0.028399432	0.01073	-3.488	0.16265	T	.	.	0.091	0.13127	B	.	.	-1.366501	0.00385	0.007	0.26517900806360473	0.01274	0.00656	0.02847	N	AEFGBI	0.051091	0.08994	N	-1.92157175688344	0.00310	0.01331125	-1.9879660246432	0.00325	0.01433726	0.679012312914238	0.22457	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	-7.85	0.01056	-3.495000	0.00503	-12.828000	0.00498	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2704:0.1842:0.5455	8.760	0.33827	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.375	1323.54	264	chr9	122724738	.	T	C	1323.54	.	AC=3;AF=0.375;AN=8;BaseQRankSum=5.98;DP=1624;ExcessHet=1.383;FS=29.391;MLEAC=4;MLEAF=0.5;MQ=58.58;MQRankSum=-15.99;QD=1.63;ReadPosRankSum=-6.249;SOR=7.442	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:207,25:232:99:0|1:122724732_T_C:427,0,8591:122724732	1	0	3	2
chr9	127428915	127428915	C	T	exonic	ZNF79	.	nonsynonymous SNV	ZNF79:NM_001286696:exon2:c.C28T:p.P10S,ZNF79:NM_007135:exon2:c.C100T:p.P34S,ZNF79:NM_001286697:exon3:c.C28T:p.P10S,ZNF79:NM_001322260:exon3:c.C28T:p.P10S	.	438	1069	15	0	0	15	0.00696702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00115910851692	0.0007	0.000599042	0.0005	0.0001	0.0001	0	0	0.0007	0.0025	0.0007	0.0004916	76	154602	rs62586846	0.0004	0.0004	0.0004	0.0004	0.0030	0.0004	0.0004	0.0019	0.0016	0	0.0003	0.0006	0	0	0.0030	0.0004	0.0008	0.0008	0.0004	0.0004	0.0005	0.0003	0.0008	0.0003	0.0003	0.0005	0.0004	2.407e-05	0	0.0005	0.0003	0	0	0	0.0006	0.0014	0.0008	0.537	0.06869	T	0.653	0.07316	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.465	0.02725	N	3.3	0.06368	T	0.43	0.05810	N	0.066	0.05037	-0.9291	0.44270	T	0.006	0.01944	T	9	0.0101643205	0.00227	T	0.001159	0.01459	T	0.059	0.16972	.	.	0.17948927462	0.17512	0.05992672212225522	0.05932	0.118720311199	0.13366	0.262855321169	0.05235	T	0.031739	0.33743	T	-0.693859	0.00040	T	-0.854962	0.00899	T	0.00883740787070476	0.00109	T	0.540346	0.18307	T	0.01758923	0.00285	0.037215177	0.03327	0.01758923	0.00285	0.037215177	0.03327	-2.776	0.07964	T	.	.	0.091	0.13315	B	.;.;.	.;.;.	-0.006908	0.04236	1.043	0.83129535680914179	0.14558	0.01095	0.04025	N	AEFBI	0.017143	0.00431	N	-1.22047030877158	0.04704	0.2128583	-1.1801287928509	0.06243	0.2998613	0.99250295270663	0.32863	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.78	-1.4	0.08499	-0.700000	0.05183	-0.616000	0.08197	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.866000	0.41154	0.1786:0.3263:0.1749:0.3202	0.537	0.00597	517	0.74620	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003040	0.000000	0.001359	0.003030	0.000000	0.008621	0.006098	0.000000	0.08333	411.83	35	chr9	127428915	.	C	T	411.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.898;DP=220;ExcessHet=0;FS=3.012;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-0.611;SOR=1.333	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,18:35:99:0|1:127428907_C_T:422,0,435:127428907	5	0	1	0
chr9	128847452	128847452	G	A	exonic	KYAT1	.	nonsynonymous SNV	KYAT1:NM_001287390:exon2:c.C77T:p.T26I,KYAT1:NM_001352994:exon2:c.C77T:p.T26I,KYAT1:NM_001352995:exon2:c.C77T:p.T26I,KYAT1:NM_001352996:exon2:c.C77T:p.T26I,KYAT1:NM_001352997:exon2:c.C77T:p.T26I,KYAT1:NM_001352998:exon2:c.C77T:p.T26I	.	411	1101	10	0	0	10	0.0045208	.	.	.	711776	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.114	.	.	0.0127796	0.0069	0	0.0449	0	0.5	0.0058	0	0.0071	0.0028525	441	154602	rs138949483	0.0089	0.0085	0.0092	0.0086	0.0516	0.0088	0.0087	0.0496	0.0488	0.0014	0.0516	0.0006	0	0.0023	0.0019	0.0087	0.0083	0.0055	0.0085	0.0085	0.0082	0.0087	0.0385	0.0081	0.0079	0.0359	0.0349	0.0022	0	0.0385	0.0006	0.0006	0.0023	0.0068	0.0076	0.0166	0.0052	0.005	0.63226	D	0.007	0.69154	D	0.047	0.21998	B	0.015	0.17295	B	.	.	.	.	1	0.08975	N	.	.	.	-1.7	0.83072	D	-0.32	0.12283	N	0.228	0.25622	-0.8489	0.52044	T	0.110	0.39675	T	8	0.0014366806	0.00016	T	.	.	.	0.114	0.32008	.	.	.	.	0.13175537751321723	0.13100	.	.	.	.	.	.	.	.	-0.47737	0.00766	T	-0.423448	0.30680	T	0.0067733178346428	0.00076	T	0.418458	0.11053	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.37350	B	.	.	0.422890	0.07933	4.643	0.89923574061315081	0.19222	0.03686	0.08957	N	AEFDGBI	0.042374	0.06568	N	-0.890378988935331	0.11071	0.5322994	-0.968879940842846	0.10489	0.5285696	0.995416286123162	0.34113	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.3	0.086	0.13756	0.720000	0.25566	1.003000	0.23275	0.618000	0.50648	0.001000	0.13787	0.023000	0.20922	0.082000	0.17360	0.0961:0.3256:0.4111:0.1673	3.206	0.06268	861	0.33516	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08333	371.83	36	chr9	128847452	.	G	A	371.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.95;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=-0.706;SOR=0.901	GT:AD:DP:GQ:PL	0/1:21,16:37:99:382,0,623	5	0	1	0
chr9	130354885	130354885	G	A	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon32:c.G4987A:p.E1663K	.	432	1075	15	0	0	15	0.00692841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00399361	0.0107	0	0.0154	0	0	0.0204	0.0064	0.0064	0.0022445	347	154602	rs147929126	0.0066	0.0052	0.0064	0.0067	0.0091	0.0064	0.0064	0.0069	0.0061	0.0006	0.0067	0.0468	0	0.0041	0.0091	0.0061	0.0081	0.0064	0.0056	0.0056	0.0057	0.0056	0.0105	0.0053	0.0052	0.0092	0.0087	0.0017	0	0.0105	0.0406	0	0.0031	0.0204	0.0060	0.0047	0.0052	.	.	.	0.33	0.18560	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.19995	.	.	.	.	.	.	.	0.0061682463	0.00139	T	.	.	.	.	.	.	.	0.126345400529	0.12197	0.5057489386732594	0.50496	.	.	.	.	.	0.011027	0.09890	T	-0.481281	0.00727	T	-0.459958	0.26603	T	.	.	.	0.614539	0.23442	T	0.093031876	0.21839	0.25402975	0.51061	0.093031876	0.21839	0.25402975	0.51060	-4.351	0.28886	T	.	.	0.075	0.05579	B	.	.	2.883339	0.38162	20.7	0.99755237795846929	0.84615	0.93249	0.57715	D	AEFDBI	0.496276	0.53129	N	.	.	.	.	.	.	0.0834187431312703	0.15927	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.26	3.36	0.37579	4.408000	0.59518	4.373000	0.43156	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.897000	0.43391	0.1035:0.0:0.8965:0.0	9.926	0.40661	576	0.70006	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	672.83	33	chr9	130354885	.	G	A	672.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.728;DP=219;ExcessHet=0;FS=5.041;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.71;ReadPosRankSum=-1.468;SOR=0.797	GT:AD:DP:GQ:PL	0/1:14,24:38:99:683,0,353	5	0	1	0
chr9	130681274	130681274	G	A	exonic	PRDM12	.	nonsynonymous SNV	PRDM12:NM_021619:exon5:c.G709A:p.A237T	Neuropathy, hereditary sensory and autonomic, type VIII, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.294840450016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.3e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.596	0.05703	T	0.635	0.07082	T	0.009	0.15093	B	0.004	0.10090	B	0.100495	0.19884	N	0.500329	0.953557	0.26400	N	-0.69	0.01958	N	3.06	0.08634	T	-0.68	0.19509	N	0.053	0.02462	-0.9423	0.42250	T	0.011	0.03949	T	10	0.088754386	0.15311	T	0.29484	0.90687	D	0.008	0.00669	0.258	0.20002	0.290222751274	0.28632	0.10806995564322257	0.10735	0.787424342419	0.65599	0.749112725258	0.74316	T	0.009048	0.08263	T	-0.331086	0.06030	T	-0.713359	0.05124	T	0.131406083703041	0.15511	T	0.416058	0.10924	T	0.032319903	0.03236	0.04697782	0.06665	0.032319903	0.03235	0.04697782	0.06665	-5.179	0.38728	T	0.10283237215511147	0.07861	0.1	0.17146	B	.	.	2.214803	0.28262	17.74	0.97104324047158497	0.32383	0.85761	0.44930	D	ALL	0.132359	0.25163	N	-0.560630399695275	0.20151	1.060228	-0.386732668118207	0.25391	1.396103	0.999999999999809	0.74766	0.623204	0.39778	0	0.378051	0.05961	2	0.378051	0.06126	2	0.603991	0.37454	0	.	.	4.31	2.42	0.28720	1.097000	0.30600	5.293000	0.48214	0.568000	0.28809	0.984000	0.35821	1.000000	0.68203	0.898000	0.43474	0.1931:0.0:0.8069:0.0	8.658	0.33237	777	0.48198	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	645.83	29	chr9	130681274	.	G	A	645.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.344;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=1.16;SOR=0.631	GT:AD:DP:GQ:PL	0/1:25,24:49:99:656,0,617	5	0	1	0
chr9	131151751	131151751	A	G	exonic	NUP214	.	nonsynonymous SNV	NUP214:NM_001318324:exon17:c.A2263G:p.I755V,NUP214:NM_005085:exon17:c.A2293G:p.I765V	Leukemia, T-cell acute lymphoblastic, somatic;Leukemia, acute myeloid, somatic	9	1462	46	5	0	56	0.0187919	.	.	.	711799	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.073	.	0.0061	0.0091853	0.0097	0.0014	0.0025	0	0.0011	0.0089	0.0143	0.0321	0.0090361	1397	154602	rs61756081	0.0086	0.0087	0.0078	0.0094	0.0305	0.0085	0.0084	0.0295	0.0291	0.0012	0.0032	0.0228	0.0001	0.0014	0.0157	0.0076	0.0097	0.0305	0.0054	0.0054	0.0055	0.0053	0.0305	0.0051	0.0050	0.0265	0.0249	0.0012	0	0.0036	0.0202	0.0002	0.0014	0.0034	0.0068	0.0071	0.0305	0.247	0.22486	T	0.071	0.43721	T	0.996	0.68779	D	0.994	0.82059	D	0.000812	0.41658	D	0.000000	1	0.81001	D	2.36	0.67893	M	1.15	0.40469	T	-0.71	0.20145	N	0.217	0.24260	-0.8791	0.49833	T	0.098	0.36548	T	10	0.00616318	0.00139	T	.	.	.	0.073	0.21317	.	.	0.485999240436	0.48233	0.21308024907835285	0.21224	0.0833740660745	0.09400	0.589299201965	0.51395	T	0.190715	0.54534	T	-0.43884	0.01314	T	-0.380142	0.35705	T	0.0246661170356991	0.01229	T	0.847515	0.52873	T	0.0484663	0.08453	0.06507281	0.13137	0.057485644	0.11446	0.06507281	0.13136	-5.236	0.39305	T	.	.	0.124	0.29394	B	.;.;.	.;.;.	3.931126	0.57454	23.9	0.99851761160429398	0.93102	0.95398	0.64564	D	AEGBCI	0.726859	0.67539	D	0.356230630539747	0.59069	4.083457	0.480121756304526	0.66674	4.982927	0.999999999999521	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.93	5.93	0.95888	5.748000	0.68333	8.000000	0.76147	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.561	0.75984	357	0.85079	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015657	0.000000	0.009511	0.043860	0.000000	0.008621	0.015432	0.018939	0.08333	1346.83	34	chr9	131151751	.	A	G	1346.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.563;DP=285;ExcessHet=0;FS=1.547;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=-0.943;SOR=0.627	GT:AD:DP:GQ:PL	0/1:51,53:104:99:1357,0,1308	5	0	1	0
chr9	133071615	133071647	CCCACGGGTGACTCCGAGACCGCCCCCGTGCCG	-	exonic	CEL	.	nonframeshift deletion	CEL:NM_001807:exon11:c.2113_2145del:p.E710_S720del	Maturity-onset diabetes of the young, type VIII, Autosomal dominant	24	1475	14	1	8	24	0.00539447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0529	0.0229	0.0257	0.0016	0.0900	0.0871	0.0267	0.0167	0.0014215	37	26028	rs774195156	0.0075	0.0076	0.0069	0.0081	0.0075	0.0074	0.0073	0.0074	0.0073	0.0026	0.0037	0.0047	0.0003	0.0259	0.0012	0.0075	0.0084	0.0053	0.0098	0.0100	0.0102	0.0094	0.0158	0.0094	0.0092	0.0149	0.0146	0.0031	0.0044	0.0053	0.0040	0.0003	0.0148	0	0.0158	0.0073	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	500.79	21	chr9	133071614	.	CCCCACGGGTGACTCCGAGACCGCCCCCGTGCCG	C	500.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.198;DP=193;ExcessHet=0;FS=1.456;MLEAC=1;MLEAF=0.083;MQ=59.62;MQRankSum=-1.31;QD=12.52;ReadPosRankSum=0.372;SOR=1.105	GT:AD:DP:GQ:PL	0/1:26,14:40:99:511,0,1042	5	0	1	0
chr9	133208141	133208141	T	A	exonic	OBP2B	.	nonsynonymous SNV	OBP2B:NM_001288987:exon3:c.A269T:p.Y90F,OBP2B:NM_014581:exon3:c.A269T:p.Y90F	.	654	836	30	2	0	34	0.0199297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	.	.	0.0079	0.0137	0.0018	0.0039	0.0052	0.0106	0.0048	0.0011	3.84e-05	1	26028	rs1413608059	0.0005	0.0049	0.0004	0.0007	0.0009	0.0005	0.0005	0.0007	0.0007	0.0003	0.0007	0.0004	0.0007	0.0023	0.0002	0.0004	0.0007	0.0009	0.0004	0.0040	0.0004	0.0003	0.0009	0.0003	0.0003	0.0003	0.0003	0.0002	0.0012	0.0002	0	0.0004	0.0004	0	0.0005	0.0010	0.0009	0.297	0.14645	T	0.337	0.18178	T	0.393	0.34680	B	0.257	0.39298	B	0.026576	0.25897	N	0.188123	1	0.19238	N	1.055	0.26876	L	3.25	0.06762	T	-2.4	0.52776	N	0.141	0.20262	-0.9592	0.39330	T	0.012	0.04795	T	10	0.0057539046	0.00128	T	.	.	.	0.069	0.20116	.	.	0.0297737177859	0.01360	0.3454499937520817	0.34458	0.164113916074	0.18517	0.433351457119	0.29667	T	0.033824	0.23072	T	-0.290422	0.09595	T	-0.654947	0.08611	T	0.0220651653645309	0.00916	T	0.417158	0.10968	T	0.052634977	0.09844	0.045453	0.06119	0.052634977	0.09844	0.045453	0.06119	-5.794	0.44522	T	.	.	0.071	0.11124	B	.;.;.	.;.;.	-0.024567	0.04115	0.974	0.14583370763224782	0.00327	0.00218	0.01233	N	AEFDBI	0.012910	0.00155	N	-1.56437998921638	0.01452	0.06336967	-1.64152865485638	0.01420	0.06421677	0.00212614337787241	0.09174	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	1.91	0.679	0.17141	-0.405000	0.07258	-1.122000	0.06265	-1.135000	0.01450	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.2549:0.0:0.0:0.7451	5.651	0.16894	.	.	Lipocalin/cytosolic fatty-acid binding domain;Lipocalin/cytosolic fatty-acid binding domain;Lipocalin/cytosolic fatty-acid binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.051309	0.073864	0.030055	0.074850	0.100000	0.025862	0.051020	0.035714	0.3333	302.19	21	chr9	133208141	.	T	A	302.19	.	AC=2;AF=0.333;AN=6;BaseQRankSum=0.974;DP=78;ExcessHet=0.5115;FS=0;MLEAC=3;MLEAF=0.5;MQ=54.88;MQRankSum=-2.722;QD=9.44;ReadPosRankSum=-0.036;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,5:11:99:0|1:133208118_G_C:111,0,171:133208118	1	0	2	3
chr10	825249	825249	T	C	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon13:c.A1300G:p.S434G,LARP4B:NM_015155:exon13:c.A1300G:p.S434G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00390173934956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.094	0.39645	T	0.034	0.20480	B	0.012	0.16012	B	0.000000	0.84330	D	0.124272	0.999909	0.50806	D	1.83	0.48079	L	1.42	0.33189	T	-1.32	0.32991	N	0.378	0.42149	-1.0760	0.08144	T	0.048	0.20553	T	10	0.09752631	0.17572	T	0.003902	0.09180	T	0.023	0.04649	0.235	0.16457	0.189391138174	0.18552	0.5409899109821052	0.54023	0.296725836107	0.32059	0.615102767944	0.55037	T	0.072244	0.34406	T	-0.147588	0.28690	T	-0.449777	0.27720	T	0.606496572494507	0.36659	D	0.835216	0.50504	T	0.1529754	0.34699	0.12790082	0.30779	0.1529754	0.34699	0.12790082	0.30779	-5.445	0.41350	T	.	.	0.098	0.19679	B	.;.	.;.	3.996231	0.58848	24.0	0.98635954636874601	0.43987	0.96367	0.68792	D	AEFDBI	0.396291	0.47282	N	-0.0822847856859552	0.38168	2.231465	0.131294021325016	0.46157	2.866445	0.999198281609489	0.38711	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	5.068000	0.64193	7.942000	0.75525	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0743:0.0:0.9257	10.134	0.41870	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	464.42	105	chr10	825249	.	T	C	464.42	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.268;DP=485;ExcessHet=6.1542;FS=168.481;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.22;ReadPosRankSum=0.893;SOR=9.735	GT:AD:DP:GQ:PL	0/1:43,19:62:64:64,0,725	1	0	5	0
chr10	13124053	13124053	A	T	exonic	OPTN	.	nonsynonymous SNV	OPTN:NM_021980:exon8:c.A941T:p.Q314L,OPTN:NM_001008212:exon9:c.A941T:p.Q314L,OPTN:NM_001008211:exon10:c.A941T:p.Q314L,OPTN:NM_001008213:exon10:c.A941T:p.Q314L	Amyotrophic lateral sclerosis 12;Glaucoma 1, open angle, E, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	YES	260885	not_provided|Motor_neuron_disease|Primary_open_angle_glaucoma|Glaucoma_1,_open_angle,_E|Amyotrophic_lateral_sclerosis_type_12|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0020128,MedGen:C0085084,Orphanet:98503|MONDO:MONDO:0100553,MedGen:C0339573,OMIM:137760|MedGen:C1842026|MONDO:MONDO:0013264,MedGen:C3150692,OMIM:613435,Orphanet:803|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.738	0.274008816604	0.0002	.	0.0001	0	0	0	0	0.0002	0	0	0.0001164	18	154602	rs142812715	0.0001	0.0001	8.985e-05	0.0001	0.0009	9.402e-05	8.885e-05	0.0003	0.0002	0	8.951e-05	0.0003	0	1.873e-05	0.0009	0.0001	0.0001	1.16e-05	7.224e-05	7.222e-05	7.704e-05	6.721e-05	0.0002	3.969e-05	3.126e-05	9.046e-05	7.01e-05	0	0	0	0	0	0	0	0.0002	0	0	0.005	0.63226	D	0.152	0.34837	T	0.999	0.90584	D	0.962	0.75793	D	0.000001	0.84330	N	0.097074	0.99998	0.54805	D	2.54	0.74080	M	-2.41	0.88611	D	-4.78	0.81910	D	0.863	0.85979	0.678	0.92896	D	0.790	0.92875	D	10	0.860572	0.85275	D	0.274009	0.89986	D	0.738	0.90895	.	.	0.964764686011	0.96438	0.35367511590322304	0.35281	0.696005667869	0.60837	0.552599072456	0.46224	T	0.558293	0.85169	D	0.124077	0.66779	D	0.239388	0.85120	D	0.836075603961945	0.49010	D	0.837416	0.50983	T	0.3412119	0.56376	0.24317247	0.49755	0.32062453	0.54693	0.25503835	0.51178	-5.16	0.38881	T	0.665693735081604	0.73990	0.393	0.59188	A	.;.;.;.;.;.	.;.;.;.;.;.	4.776188	0.77372	26.7	0.99524233360155234	0.69469	0.96886	0.71475	D	AEFBI	0.649121	0.62369	D	0.461066120218178	0.64832	4.747036	0.416112380810645	0.62566	4.474424	0.472674538270319	0.20720	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	5.03	0.67015	7.461000	0.79870	11.226000	0.89934	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.8702:0.0:0.0:0.1298	12.009	0.52568	946	0.12043	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	261.83	29	chr10	13124053	.	A	T	261.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0;DP=198;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.48;ReadPosRankSum=1.58;SOR=0.871	GT:AD:DP:GQ:PL	0/1:21,14:35:99:272,0,461	5	0	1	0
chr10	14774379	14774379	G	C	exonic	FAM107B	.	nonsynonymous SNV	FAM107B:NM_031453:exon1:c.C285G:p.H95Q	.	435	1053	30	4	0	38	0.0177239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	.	0.0052	0.00499201	0.0078	0.0024	0.0060	0.0002	0.0042	0.0099	0.0143	0.0090	0.0074579	1153	154602	rs144131218	0.0071	0.0071	0.0071	0.0072	0.0257	0.0070	0.0070	0.0223	0.0210	0.0026	0.0057	0.0210	5.038e-05	0.0051	0.0257	0.0071	0.0088	0.0088	0.0058	0.0058	0.0057	0.0058	0.0077	0.0054	0.0053	0.0069	0.0067	0.0021	0.0066	0.0063	0.0176	0.0004	0.0046	0.0306	0.0075	0.0099	0.0077	0.01	0.56456	D	0.013	0.63109	D	0.039	0.21116	B	0.025	0.20508	B	0.409184	0.13020	N	0.659654	1	0.08975	N	.	.	.	0.95	0.43279	T	-0.34	0.12661	N	0.089	0.06720	-1.0440	0.16118	T	0.034	0.14552	T	10	0.0039682686	0.00076	T	.	.	.	0.096	0.27654	0.069	0.00373	0.0401082797425	0.02173	0.045393378275196114	0.04483	0.137498292665	0.15505	0.269615024328	0.06091	T	.	.	.	-0.661509	0.00061	T	-0.716307	0.04976	T	0.00527193897329937	0.00057	T	0.29867	0.05569	T	.	.	.	.	.	.	.	.	-2.665	0.07014	T	.	.	0.093	0.14015	B	.	.	0.433597	0.08038	4.760	0.46671962577178489	0.03756	0.10494	0.15985	N	AEFBI	0.085575	0.17348	N	-1.29361667126291	0.03751	0.1681429	-1.30599892829859	0.04352	0.2050923	1.49545221312901E-5	0.02871	0.446893	0.09132	0	0.563428	0.19063	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	5.23	-1.32	0.08721	-0.031000	0.12237	1.301000	0.25475	-0.818000	0.02990	0.193000	0.24225	0.898000	0.27928	0.001000	0.02609	0.3458:0.1249:0.2687:0.2606	0.470	0.00494	944	0.12746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.021652	0.015152	0.031250	0.038012	0.000000	0.025862	0.009146	0.003788	0.08333	1647.83	38	chr10	14774379	.	G	C	1647.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.434;DP=303;ExcessHet=0;FS=11.733;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=0.068;SOR=0.732	GT:AD:DP:GQ:PL	0/1:60,60:120:99:1658,0,1734	5	0	1	0
chr10	24219691	24219691	C	T	exonic	KIAA1217	.	nonsynonymous SNV	KIAA1217:NM_001282767:exon2:c.C136T:p.R46C,KIAA1217:NM_001282768:exon2:c.C136T:p.R46C,KIAA1217:NM_019590:exon2:c.C136T:p.R46C	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.0718088779575	0.0032	0.00119808	0.0028	0.0004	0.0008	0	0.0017	0.0046	0	0.0002	0.0027555	426	154602	rs61850390	0.0033	0.0033	0.0033	0.0033	0.0040	0.0032	0.0032	0.0039	0.0039	0.0005	0.0009	0.0005	2.52e-05	0.0015	0.0002	0.0040	0.0023	0.0002	0.0025	0.0025	0.0029	0.0021	0.0048	0.0023	0.0022	0.0043	0.0042	0.0006	0	0.0008	0.0003	0	0.0008	0	0.0048	0.0014	0.0004	0.049	0.41096	D	0.06	0.56192	T	0.998	0.77913	D	0.731	0.58350	P	0.020431	0.27041	N	0.241275	0.991236	0.81001	D	1.355	0.33814	L	-0.02	0.62918	T	-1.16	0.30762	N	0.214	0.25253	-0.6000	0.64817	T	0.240	0.60750	T	10	0.0044635534	0.00092	T	0.071809	0.71368	D	0.180	0.45073	.	.	0.73376092387	0.73138	0.2366039852327138	0.23575	0.175079127471	0.19712	0.383674353361	0.22777	T	0.063626	0.53516	T	-0.371655	0.03511	T	-0.30664	0.44018	T	0.0176007069699794	0.00493	T	0.922308	0.71764	D	0.07317591	0.16333	0.047704797	0.06930	0.07317591	0.16333	0.047704797	0.06930	-4.804	0.35191	T	.	.	0.093	0.24800	B	.;.;.;.;.;.	.;.;.;.;.;.	3.523485	0.49401	22.8	0.99897593506595561	0.97048	0.28478	0.23565	N	AEFBI	0.307020	0.41401	N	-0.0939066373005908	0.37659	2.194206	-0.0994290114890279	0.35414	2.048593	0.997257065555324	0.35425	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.668105	0.65232	0	.	.	5.87	4.96	0.65153	1.025000	0.29695	2.214000	0.31393	-0.223000	0.07921	0.530000	0.27189	0.977000	0.30130	0.904000	0.43992	0.2748:0.7252:0.0:0.0	14.043	0.64208	929	0.16858	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.08333	717.83	41	chr10	24219691	.	C	T	717.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.46;DP=246;ExcessHet=0;FS=5.552;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=-0.553;SOR=1.516	GT:AD:DP:GQ:PL	0/1:38,27:65:99:728,0,931	5	0	1	0
chr10	29526989	29526989	C	T	exonic	SVIL	.	nonsynonymous SNV	SVIL:NM_001323600:exon12:c.G1132A:p.V378I,SVIL:NM_021738:exon13:c.G2314A:p.V772I,SVIL:NM_001323599:exon14:c.G1384A:p.V462I	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.0168846736178	.	0.000199681	5.401e-05	0	0	0	0	1.597e-05	0	0.0004	4.53e-05	7	154602	rs566419574	1.714e-05	1.71e-05	8.187e-06	2.619e-05	0.0003	1.177e-05	9.95e-06	8.946e-05	7.1e-05	0	0	0	0	0	0.0003	5.402e-06	6.642e-05	0.0002	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.006	0.61437	D	0.374	0.16280	T	0.199	0.29618	B	0.048	0.24975	B	0.059357	0.22331	N	0.489520	0.600539	0.81001	D	2.565	0.75005	M	0.97	0.42502	T	-0.19	0.09965	N	0.128	0.12198	-0.9890	0.32853	T	0.127	0.43277	T	9	0.05157572	0.05061	T	0.016885	0.38356	T	0.087	0.25287	0.169	0.07419	0.282416095408	0.27849	0.14913248129005288	0.14835	.	.	0.370236158371	0.20865	T	0.020469	0.16112	T	-0.389015	0.02730	T	-0.532141	0.19073	T	0.121978108312396	0.14622	T	0.731927	0.34732	T	0.0789661	0.18014	0.10551152	0.25365	0.0789661	0.18013	0.10551152	0.25364	-4.783	0.34392	T	.	.	0.088	0.11893	B	.	.	2.627239	0.34156	19.55	0.99707333306557111	0.81074	0.85897	0.45084	D	AEFDBI	0.266401	0.38333	N	-0.0855518311992184	0.38026	2.22091	0.0146459704729737	0.40394	2.409991	0.512671438352946	0.21031	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	5.57	3.69	0.41483	1.002000	0.29397	1.562000	0.27363	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.6492:0.3508:0.0	16.998	0.86246	965	0.07246	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1030.83	36	chr10	29526989	.	C	T	1030.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.547;DP=273;ExcessHet=0;FS=1.796;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-0.459;SOR=0.795	GT:AD:DP:GQ:PL	0/1:38,46:84:99:1041,0,838	5	0	1	0
chr10	35640328	35640342	CCGCGCCCGCGCCCG	-	exonic	FZD8	.	nonframeshift deletion	FZD8:NM_031866:exon1:c.1088_1102del:p.A363_A367del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs777191512	0.0005	0.0004	0.0005	0.0005	0.0010	0.0005	0.0005	0.0007	0.0005	0.0008	0	0.0001	0.0004	0	0	0.0005	0.0007	0.0010	0.0008	0.0008	0.0008	0.0008	0.0011	0.0007	0.0006	0.0009	0.0008	0.0005	0	0.0003	0	0.0006	0.0015	0	0.0011	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	511.8	34	chr10	35640327	.	CCCGCGCCCGCGCCCG	C	511.8	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.06;DP=197;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=30.11;ReadPosRankSum=0.454;SOR=0.495	GT:AD:DP:GQ:PL	0/1:4,13:17:99:522,0,126	5	0	1	0
chr10	47474331	47474331	G	A	exonic	ANXA8	.	nonsynonymous SNV	ANXA8:NM_001271703:exon6:c.C434T:p.T145M,ANXA8:NM_001040084:exon8:c.C620T:p.T207M,ANXA8:NM_001271702:exon8:c.C734T:p.T245M	.	557	954	11	0	0	11	0.00573215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00947507258297	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1416919198	0.0015	0.0018	0.0014	0.0016	0.0181	0.0014	0.0014	0.0147	0.0135	0.0010	0.0018	0.0038	7.506e-05	0.0005	0.0181	0.0014	0.0027	0.0011	0.0020	0.0023	0.0021	0.0019	0.0062	0.0018	0.0017	0.0052	0.0048	0.0005	0.0012	0.0062	0.0053	0	0.0002	0.0250	0.0021	0.0015	0.0021	.	.	.	0.035	0.56640	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.5	0.05014	T	.	.	.	0.208	0.39052	.	.	.	.	.	.	.	0.03975299	0.02489	T	.	.	.	.	.	.	.	.	.	0.4310750636228678	0.43024	.	.	.	.	.	0.136864	0.50197	T	.	.	.	.	.	.	.	.	.	0.972453	0.90263	D	.	.	.	.	.	.	.	.	-7.895	0.62647	D	.	.	0.177	0.38676	B	.;.;.;.	.;.;.;.	3.787850	0.54506	23.5	.	.	.	.	.	.	0.077809	0.15685	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.572000	0.23387	2.642000	0.33760	0.477000	0.22036	0.455000	0.26605	0.998000	0.33993	0.581000	0.30918	.	.	.	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	1384.92	.	chr10	47474331	.	G	A	1384.92	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-1.094;DP=361;ExcessHet=1.7609;FS=2.314;MLEAC=3;MLEAF=0.3;MQ=48.98;MQRankSum=-0.459;QD=4.79;ReadPosRankSum=-0.096;SOR=0.533	GT:AD:DP:GQ:PL	0/1:85,23:108:99:342,0,2289	2	0	3	1
chr10	50104141	50104141	G	T	exonic	WASHC2A	.	stopgain	WASHC2A:NM_001005751:exon18:c.G1735T:p.E579X,WASHC2A:NM_001291398:exon18:c.G1735T:p.E579X,WASHC2A:NM_001330102:exon18:c.G1735T:p.E579X	.	.	.	.	.	.	.	.	0.0325	0.306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.92e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000196	0.48115	D	0.177367	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.203	0.22486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.516028	0.94769	D	0.503462	0.94693	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Recessive;.	.;.;.;High;.	9.267290	0.98698	40	0.9970933219154513	0.81213	0.81583	0.40957	D	AEFI	0.377897	0.46149	N	0.533718965370225	0.69097	5.308889	0.258097754249554	0.53111	3.481751	3.20204501784103E-6	0.01202	0.706548	0.73137	0	0.659464	0.62310	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	3.2	2.25	0.27340	3.458000	0.52778	9.527000	0.80942	-0.373000	0.05434	1.000000	0.71638	1.000000	0.68203	0.901000	0.43729	0.0:0.2451:0.7549:0.0	8.354	0.31482	749	0.51929	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	196.6	67	chr10	50104141	.	G	T	196.6	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-1.749;DP=334;ExcessHet=3.1439;FS=273.532;MLEAC=1;MLEAF=0.125;MQ=56.78;MQRankSum=0.544;QD=0.83;ReadPosRankSum=0.267;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,11:49:38:0|1:50104141_G_T:38,0,1192:50104141	3	0	1	2
chr10	50104144	50104144	G	A	splicing	WASHC2A	NM_001291398:exon18:c.1737+1G>A;NM_001330102:exon18:c.1737+1G>A;NM_001005751:exon18:c.1737+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0463318	0.57869	T	-0.171224	0.57330	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	5.720867	0.93226	33	0.97432250228662731	0.33931	0.91899	0.54504	D	AEFI	.	.	.	0.701995888035694	0.79764	7.146901	0.445472292793738	0.64426	4.697596	7.07449565220211E-5	0.04366	0.164513	0.03853	0	0.195528	0.04277	0	0.078618	0.02440	0	0.221052	0.04502	0	0.694248	0.42717	3.2	3.2	0.35826	5.024000	0.63865	11.562000	0.93235	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.0:1.0:0.0	10.264	0.42622	749	0.51929	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3333	135.59	66	chr10	50104144	.	G	A	135.59	.	AC=2;AF=0.333;AN=6;BaseQRankSum=-2.822;DP=299;ExcessHet=1.383;FS=148.216;MLEAC=3;MLEAF=0.5;MQ=56.55;MQRankSum=-0.632;QD=0.85;ReadPosRankSum=0.155;SOR=6.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,11:49:38:0|1:50104141_G_T:38,0,1192:50104141	1	0	2	3
chr10	69405055	69405055	C	T	exonic	TACR2	.	nonsynonymous SNV	TACR2:NM_001057:exon5:c.G968A:p.R323H	.	409	1085	26	2	0	30	0.0136364	.	.	.	724030	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.151	.	0.0028	0.00439297	0.0035	0.0054	0.0017	0.0001	0	0.0019	0.0056	0.0132	0.0031824	492	154602	rs61732393	0.0020	0.0020	0.0016	0.0024	0.0132	0.0020	0.0019	0.0125	0.0123	0.0062	0.0019	0.0011	0.0001	0.0001	0.0130	0.0011	0.0024	0.0132	0.0031	0.0031	0.0027	0.0036	0.0112	0.0029	0.0028	0.0088	0.0080	0.0061	0	0.0041	0.0006	0.0002	0	0.0136	0.0013	0.0028	0.0112	0.007	0.59928	D	0.24	0.45110	T	0.113	0.26349	B	0.009	0.14300	B	0.006077	0.32295	N	0.339951	0.972741	0.25584	N	1.1	0.28011	L	1.11	0.38883	T	-3.18	0.64478	D	0.41	0.56317	-0.9830	0.34305	T	0.080	0.31765	T	10	0.0076259673	0.00173	T	.	.	.	0.151	0.39764	.	.	0.631684250815	0.62866	0.5104346157756068	0.50965	0.342853355472	0.36211	0.245852425694	0.03344	T	0.169621	0.51706	T	-0.441138	0.01273	T	-0.395409	0.33918	T	0.0182866040650096	0.00547	T	0.891811	0.64041	D	0.107284755	0.25369	0.08081356	0.18312	0.107284755	0.25369	0.08081356	0.18312	-6.35	0.49117	T	.	.	0.077	0.06617	B	.;.;.	.;.;.	3.561692	0.50119	22.9	0.99831297140680508	0.91284	0.27992	0.23431	N	AEFBHCI	0.128793	0.24671	N	-0.134000688240973	0.35917	2.069283	-0.0671722345928298	0.36756	2.143169	0.999968282469769	0.48965	0.490419	0.18000	1	0.434261	0.06401	1	0.564498	0.18976	0	0.727631	0.95156	0	.	.	5.72	3.78	0.42629	0.589000	0.23640	.	.	0.599000	0.40250	0.077000	0.22263	0.779000	0.26763	0.792000	0.37394	0.0:0.7372:0.1324:0.1304	8.643	0.33153	643	0.63827	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013472	0.005051	0.010870	0.006993	0.050000	0.008621	0.027439	0.015152	0.08333	1084.83	34	chr10	69405055	.	C	T	1084.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.534;DP=238;ExcessHet=0;FS=2.241;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.95;ReadPosRankSum=-0.566;SOR=1.127	GT:AD:DP:GQ:PL	0/1:22,42:64:99:1095,0,487	5	0	1	0
chr10	71679448	71679448	C	T	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171930:exon16:c.C1814T:p.A605V,CDH23:NM_001171931:exon16:c.C1814T:p.A605V,CDH23:NM_022124:exon16:c.C1814T:p.A605V	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	1	1505	13	3	0	19	0.0062727	.	.	.	55048	CDH23-related_disorder|Usher_syndrome_type_1|Usher_syndrome|Autosomal_recessive_nonsyndromic_hearing_loss_12|Usher_syndrome_type_1D|not_provided|not_specified	.|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:886|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.073	0.00517932925345	0.0002	0.000199681	0.0011	0.0001	0.0032	0	0	0.0006	0.0013	0.0038	0.0008667	134	154602	rs201475055	0.0006	0.0006	0.0005	0.0007	0.0076	0.0006	0.0005	0.0058	0.0052	2.987e-05	0.0015	0.0036	0	3.748e-05	0.0076	0.0002	0.0009	0.0043	0.0004	0.0004	0.0004	0.0004	0.0033	0.0003	0.0003	0.0021	0.0017	4.808e-05	0	0.0004	0.0052	0	0	0.0034	0.0002	0.0005	0.0033	.	.	.	0.146	0.37872	T	0.001	0.07471	B	0.008	0.13708	B	0.000930	0.41028	D	0.151129	0.999022	0.45899	D	0.59	0.15444	N	.	.	.	.	.	.	0.322	0.37613	-1.0155	0.25175	T	0.114	0.40467	T	9	0.010247946	0.00229	T	0.005179	0.13187	T	0.073	0.21317	.	.	0.655750398851	0.65288	0.2753463945352349	0.27447	.	.	0.533647298813	0.43549	T	0.015068	0.48939	T	-0.347976	0.04856	T	-0.272628	0.47554	T	0.0162588571730987	0.00398	T	0.830817	0.49719	T	0.09795787	0.23097	0.1249246	0.30106	0.11524452	0.27196	0.15859032	0.37027	-3.18	0.12238	T	.	.	0.085	0.12465	B	.;.;.;.;.;.	.;.;.;.;.;.	2.326079	0.29792	18.24	0.99425175833528467	0.63984	0.89425	0.49882	D	AEFDBI	0.427878	0.49164	N	-0.295210741250689	0.29333	1.625713	-0.131422616568966	0.34131	1.959893	0.999989680196985	0.51787	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	4.95	4.03	0.46115	1.483000	0.35105	1.401000	0.26197	0.599000	0.40250	0.999000	0.42656	0.990000	0.31317	0.549000	0.30150	0.0:0.8579:0.0:0.1421	11.799	0.51386	878	0.29785	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.011364	0.08333	2001.83	37	chr10	71679448	.	C	T	2001.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.24;DP=366;ExcessHet=0;FS=2.8;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=1.06;SOR=0.931	GT:AD:DP:GQ:PL	0/1:78,81:159:99:2012,0,1880	5	0	1	0
chr10	72859215	72859215	T	G	exonic	MCU	.	nonsynonymous SNV	MCU:NM_001270679:exon3:c.T259G:p.S87A,MCU:NM_001270680:exon3:c.T112G:p.S38A,MCU:NM_138357:exon3:c.T259G:p.S87A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0317968952026	.	.	8.341e-06	0	0	0	0	1.507e-05	0	0	6.5e-06	1	154602	rs767464150	1.371e-06	1.368e-06	1.364e-06	1.378e-06	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.55530	D	0.035	0.54934	D	0.756	0.43409	P	0.283	0.47649	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.32	0.33002	L	1.95	0.23283	T	-1.27	0.32590	N	0.729	0.73015	-0.9944	0.31459	T	0.106	0.38587	T	10	0.42465425	0.57093	T	0.031797	0.53791	D	0.160	0.41473	0.339	0.32979	0.102598925029	0.09809	0.37944658784475405	0.37859	0.604328181795	0.55379	0.84485244751	0.88834	D	0.057675	0.30631	T	-0.0485694	0.44665	T	-0.307543	0.43922	T	0.794277608394623	0.45970	D	0.810219	0.53152	T	0.627081	0.74142	0.41180804	0.65401	0.627081	0.74143	0.41180804	0.65401	-6.883	0.53173	T	.	.	0.156	0.42791	B	.;.;.;.	.;.;.;.	4.218047	0.63779	24.6	0.99413295481475328	0.63405	0.98776	0.86705	D	AEFBI	0.914862	0.87883	D	0.489659394538188	0.66485	4.956149	0.554479773231223	0.71710	5.696412	0.999999999172455	0.74766	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	7.824000	0.84838	7.819000	0.69683	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.550	0.75879	938	0.14419	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	879.83	41	chr10	72859215	.	T	G	879.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.127;DP=272;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.46;ReadPosRankSum=-0.081;SOR=0.671	GT:AD:DP:GQ:PL	0/1:51,42:93:99:890,0,1142	5	0	1	0
chr10	73427637	73427637	G	A	exonic	MSS51	.	nonsynonymous SNV	MSS51:NM_001024593:exon3:c.C353T:p.S118F	.	434	1080	8	0	0	8	0.00369004	.	.	.	4020749	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.103	0.0230906134144	0.0023	0.000998403	0.0023	0.0002	0.0008	0	0.0006	0.0027	0	0.0052	0.0023286	360	154602	rs150492078	0.0037	0.0037	0.0037	0.0037	0.0053	0.0036	0.0036	0.0049	0.0047	0.0004	0.0011	0.0063	5.043e-05	0.0005	0.0028	0.0040	0.0037	0.0053	0.0023	0.0023	0.0025	0.0022	0.0072	0.0021	0.0021	0.0054	0.0047	0.0006	0	0.0014	0.0069	0	0.0003	0.0034	0.0036	0.0024	0.0072	0.028	0.46129	D	0.048	0.48594	D	0.896	0.49324	P	0.694	0.53938	P	0.065794	0.21855	N	0.512547	0.996597	0.22965	N	.	.	.	0.83	0.47815	T	-2.36	0.52128	N	0.477	0.51226	-0.8707	0.50476	T	0.189	0.53990	T	10	0.0073885918	0.00168	T	0.023091	0.46030	T	0.103	0.29403	.	.	0.526592550251	0.52305	0.3340768957488348	0.33320	0.450182816074	0.44785	0.389175772667	0.23554	T	0.030837	0.21761	T	-0.470668	0.00842	T	-0.443731	0.28391	T	0.0379450644298941	0.03322	T	0.70113	0.31087	T	0.13453281	0.31253	0.16352764	0.37929	0.13453281	0.31253	0.16352764	0.37928	-8.578	0.64944	D	.	.	0.13	0.27998	B	.;.	.;.	3.279753	0.44934	22.0	0.99570969972424161	0.72379	0.96890	0.71498	D	AEFBI	0.319789	0.42309	N	0.403452128953316	0.61611	4.364674	0.439094723153886	0.64020	4.647852	0.014836006703937	0.12644	0.660377	0.49826	0	0.601575	0.49859	0	0.696353	0.63694	0	0.491896	0.07777	0	.	.	5.93	4.99	0.65942	3.816000	0.55363	4.822000	0.45127	0.618000	0.50648	0.998000	0.41325	1.000000	0.68203	0.968000	0.53726	0.0:0.1942:0.8058:0.0	14.435	0.66852	824	0.40336	Zinc finger, MYND-type|Zinc finger, MYND-type|Zinc finger, MYND-type;Zinc finger, MYND-type|Zinc finger, MYND-type|Zinc finger, MYND-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	0	0	1	0	0.006042	0.000000	0.005435	0.002924	0.000000	0.000000	0.021341	0.000000	0.08333	1034.83	34	chr10	73427637	.	G	A	1034.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.55;DP=243;ExcessHet=0;FS=0.939;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.45;ReadPosRankSum=1.19;SOR=0.733	GT:AD:DP:GQ:PL	0/1:27,40:67:99:1045,0,727	5	0	1	0
chr10	87226159	87226159	A	G	exonic	NUTM2A	.	nonsynonymous SNV	NUTM2A:NM_001099338:exon1:c.A329G:p.N110S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00103317061678	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1210893219	0	1.801e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.30800	T	0.13	0.46632	T	0.784	0.44396	P	0.094	0.30180	B	.	.	.	.	1	0.08975	N	.	.	.	2.76	0.22678	T	-0.17	0.09627	N	0.073	0.04668	-1.0133	0.25880	T	0.019	0.07893	T	9	0.092519015	0.16300	T	0.001033	0.01144	T	0.057	0.16321	.	.	0.043077524339	0.03247	0.008263722360741998	0.00790	.	.	0.574547290802	0.49319	T	2.9E-4	0.00073	T	-0.345578	0.05011	T	-0.734176	0.04141	T	0.173205587305457	0.18795	T	0.624837	0.24114	T	0.04741855	0.08101	0.09410983	0.22261	0.04741855	0.08101	0.09410983	0.22261	-1.469	0.01702	T	.	.	0.110	0.21049	B	.;.	.;.	0.696168	0.10646	7.348	0.51311267395978855	0.04540	0.00049	0.00384	N	AEFI	0.011187	0.00094	N	-1.03820978570498	0.07820	0.3646311	-1.14791676755139	0.06806	0.3288353	5.31027560473849E-5	0.04171	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.32	0.352	0.15287	0.229000	0.17614	0.038000	0.13828	-0.443000	0.05165	0.946000	0.32893	0.000000	0.08366	0.003000	0.05239	0.2696:0.0:0.7304:0.0	3.662	0.07779	926	0.17793	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	1.0	42.26	.	chr10	87226159	.	A	G	42.26	.	AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=31;QD=21.13;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	0	1	0	5
chr10	87226171	87226171	C	T	exonic	NUTM2A	.	nonsynonymous SNV	NUTM2A:NM_001099338:exon1:c.C341T:p.A114V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00110528607748	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1242508018	0	2.547e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.528	0.10173	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	2.68	0.24085	T	-0.53	0.19085	N	0.13	0.12484	-1.0109	0.26635	T	0.026	0.11264	T	9	0.091159165	0.15944	T	0.001105	0.01312	T	0.017	0.02790	0.452	0.51448	0.043077524339	0.03247	0.011757654140634706	0.01135	.	.	0.525236666203	0.42364	T	0.002815	0.02207	T	-0.313403	0.07451	T	-0.687958	0.06508	T	0.115731609862436	0.14008	T	0.549145	0.18877	T	0.027473545	0.01945	0.08075826	0.18297	0.027473545	0.01945	0.08075826	0.18297	-2.896	0.09103	T	.	.	0.114	0.22680	B	.;.	.;.	0.365152	0.07376	3.999	0.47707312240261096	0.03922	0.00188	0.01093	N	AEFI	0.022552	0.01142	N	-1.2408005680184	0.04422	0.199544	-1.3213942274036	0.04154	0.1953517	5.92224279686751E-5	0.04171	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.32	-0.841	0.10207	-0.143000	0.10278	-3.116000	0.03048	0.343000	0.19815	0.246000	0.24809	0.000000	0.08366	0.001000	0.02609	0.0:0.5325:0.0:0.4675	3.976	0.08965	926	0.17793	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	1.0	42.26	.	chr10	87226171	.	C	T	42.26	.	AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=31;QD=21.13;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	0	1	0	5
chr10	89306689	89306689	G	C	exonic	IFIT2	.	nonsynonymous SNV	IFIT2:NM_001547:exon2:c.G733C:p.G245R	.	421	1064	37	0	0	37	0.0170901	.	.	.	712502	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.016	.	0.0055	0.00459265	0.0070	0.0013	0.0044	0.0128	0.0035	0.0084	0.0111	0.0049	0.0070245	1086	154602	rs41284134	0.0068	0.0068	0.0067	0.0069	0.0310	0.0067	0.0066	0.0273	0.0259	0.0025	0.0039	0.0047	0.0113	0.0062	0.0310	0.0070	0.0070	0.0042	0.0055	0.0055	0.0057	0.0052	0.0123	0.0052	0.0050	0.0099	0.0090	0.0019	0.0022	0.0039	0.0023	0.0123	0.0057	0.0204	0.0076	0.0099	0.0033	0.255	0.16848	T	0.209	0.26798	T	0.0	0.02946	B	0.0	0.01387	B	0.440592	0.12632	U	0.678971	1	0.08975	N	0.255	0.09829	N	1.15	0.38236	T	-1.34	0.33401	N	0.122	0.11340	-1.0566	0.12621	T	0.016	0.06711	T	10	0.0033566654	0.00058	T	.	.	.	0.016	0.02506	.	.	0.17258766438	0.16869	0.16177601230667774	0.16098	0.212422641144	0.23743	0.184119105339	0.00138	T	0.036867	0.24264	T	-0.596728	0.00153	T	-0.62054	0.11143	T	0.000261870921775061	0.00002	T	0.0333967	0.00218	T	0.057331856	0.11395	0.044266384	0.05697	0.057331856	0.11395	0.044266384	0.05697	-2.998	0.10159	T	.	.	0.116	0.27553	B	.;.;.	.;.;.	-1.064037	0.00684	0.020	0.65071085912305715	0.07669	0.03715	0.09002	N	AEFGBI	0.079180	0.15988	N	-1.51045435924621	0.01781	0.07800894	-1.58510024626986	0.01746	0.07942316	0.999999679713609	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	4.58	-6.03	0.02001	-0.942000	0.04031	-4.702000	0.02026	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.087000	0.17632	0.1602:0.3556:0.2905:0.1936	2.871	0.05271	818	0.41518	Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain	IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Cells_Cultured_fibroblasts|Esophagus_Mucosa|Heart_Atrial_Appendage|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.023162	0.010101	0.038043	0.035088	0.050000	0.008621	0.012195	0.007576	0.08333	991.83	33	chr10	89306689	.	G	C	991.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.035;DP=525;ExcessHet=0;FS=0.78;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=-0.176;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,41:91:99:0|1:89306689_G_C:1002,0,1355:89306689	5	0	1	0
chr10	89339709	89339709	G	C	exonic	IFIT3	.	nonsynonymous SNV	IFIT3:NM_001031683:exon2:c.G1054C:p.V352L,IFIT3:NM_001549:exon2:c.G1054C:p.V352L,IFIT3:NM_001289758:exon3:c.G898C:p.V300L,IFIT3:NM_001289759:exon3:c.G898C:p.V300L	.	428	1050	44	0	0	44	0.0205224	.	.	.	712503	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.026	.	0.0095	0.00838658	0.0079	0.0120	0.0065	0.0034	0.0035	0.0092	0.0132	0.0044	0.0080659	1247	154602	rs140549288	0.0073	0.0073	0.0072	0.0073	0.0376	0.0072	0.0071	0.0335	0.0319	0.0147	0.0065	0.0082	0.0019	0.0067	0.0376	0.0073	0.0090	0.0039	0.0090	0.0091	0.0095	0.0085	0.0142	0.0086	0.0085	0.0133	0.0129	0.0142	0.0033	0.0064	0.0055	0.0033	0.0058	0.0340	0.0078	0.0137	0.0031	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.953658	0.08270	N	0.978763	1	0.08975	N	-2.15	0.00138	N	3.12	0.08106	T	1.21	0.01064	N	0.031	0.00770	-0.9382	0.42900	T	0.002	0.00707	T	10	0.0034144819	0.00060	T	.	.	.	0.026	0.05648	.	.	0.151104730317	0.14643	0.05788137922859237	0.05729	0.190880070537	0.21403	0.213487833738	0.00968	T	0.009261	0.08439	T	-0.795479	0.00008	T	-0.904396	0.00472	T	0.00421190610503837	0.00045	T	0.285571	0.05082	T	0.028140498	0.02107	0.03136494	0.01715	0.028140498	0.02107	0.03136494	0.01715	-2.58	0.06352	T	.	.	0.078	0.06942	B	.;.	.;.	-1.019289	0.00744	0.023	0.46844251783305813	0.03783	0.01127	0.04103	N	AEFBCI	0.031552	0.03397	N	-1.70175386471248	0.00836	0.03613641	-1.63272795159315	0.01467	0.06639746	0.146792270760237	0.17372	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.34	-1.5	0.08233	-1.091000	0.03480	-0.914000	0.06944	-0.247000	0.07223	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2526:0.2304:0.3221:0.1948	0.842	0.01078	865	0.32612	.;.	IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Cells_Cultured_fibroblasts|Esophagus_Mucosa|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood	.	.	rs140549288	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.035750	0.045455	0.050272	0.046784	0.050000	0.025862	0.012195	0.011364	0.08333	1173.83	33	chr10	89339709	.	G	C	1173.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.63;DP=278;ExcessHet=0;FS=2.649;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-1.374;SOR=0.85	GT:AD:DP:GQ:PL	0/1:58,40:98:99:1184,0,1572	5	0	1	0
chr10	94254191	94254191	G	C	exonic	PLCE1	.	nonsynonymous SNV	PLCE1:NM_001165979:exon9:c.G2357C:p.G786A,PLCE1:NM_001288989:exon10:c.G3281C:p.G1094A,PLCE1:NM_016341:exon10:c.G3281C:p.G1094A	Nephrotic syndrome, type 3, Autosomal recessive	1	1506	14	1	0	16	0.00528402	0.9372	0.806	.	317340	Nephrotic_syndrome,_type_3|not_provided	MONDO:MONDO:0012546,MedGen:C1853124,OMIM:610725,Orphanet:656|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.278	0.0459639840032	.	.	0.0001	0	0	0	0	0.0002	0	0	9.7e-05	15	154602	rs61732523	0.0001	0.0001	0.0001	0.0001	0.0014	0.0001	9.805e-05	0.0007	0.0005	2.995e-05	2.237e-05	0	0	0	0.0014	0.0001	0.0002	0	9.202e-05	9.193e-05	8.996e-05	9.418e-05	0.0002	5.529e-05	4.366e-05	0.0001	9.898e-05	0	0	0	0	0	0	0	0.0002	0	0	0.004	0.65419	D	0.0	0.92824	D	0.999	0.90584	D	0.951	0.92359	D	0.000001	0.84330	D	0.000000	0.999995	0.58761	D	2.505	0.72935	M	1.46	0.32238	T	-2.63	0.56466	D	0.772	0.87049	-0.8383	0.52760	T	0.171	0.51181	T	10	0.75354195	0.75814	D	0.045964	0.62234	D	0.278	0.59497	.	.	0.785868056097	0.78388	0.38582024949644145	0.38497	0.476697284659	0.46795	0.633901834488	0.57698	T	0.512804	0.82809	D	-0.132169	0.31145	T	-0.132793	0.60737	T	0.319477885961533	0.25801	T	0.915508	0.69822	D	0.43981153	0.63391	0.46321234	0.68838	0.43981153	0.63391	0.46321234	0.68838	-3.205	0.12701	T	0.6378690115036595	0.70816	0.287	0.51908	B	.;.;.	.;.;.	4.632905	0.73682	26.0	0.99799011181617847	0.88372	0.99093	0.91122	D	AEFBI	0.962296	0.98384	D	0.705599258156152	0.79999	7.198203	0.667549478794314	0.79923	7.186282	0.999999265633802	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.03	5.03	0.67015	9.564000	0.97283	11.904000	0.99435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.433000	0.27516	0.0:0.0:1.0:0.0	18.386	0.90412	351	0.85421	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2481.83	33	chr10	94254191	.	G	C	2481.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.634;DP=350;ExcessHet=0;FS=1.283;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.61;ReadPosRankSum=2;SOR=0.561	GT:AD:DP:GQ:PL	0/1:66,93:159:99:2492,0,1674	5	0	1	0
chr10	95684564	95684564	C	T	exonic	TCTN3	.	nonsynonymous SNV	TCTN3:NM_015631:exon9:c.G1030A:p.G344R	Joubert syndrome 18, Autosomal recessive;Orofaciodigital syndrome IV, Autosomal recessive	8	1407	104	3	0	110	0.0376197	.	.	.	207805	not_specified|Orofacial-digital_syndrome_IV|Joubert_syndrome_18|not_provided	MedGen:CN169374|MONDO:MONDO:0009794,MedGen:C0406727,OMIM:258860,Orphanet:2753|MONDO:MONDO:0013896,MedGen:C3553758,OMIM:614815,Orphanet:2754|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.375	.	0.0049	0.00359425	0.0072	0.0012	0.0033	0.0002	0.0070	0.0074	0.0066	0.0167	0.0067464	1043	154602	rs141088838	0.0065	0.0065	0.0062	0.0068	0.0152	0.0064	0.0064	0.0146	0.0143	0.0022	0.0037	0.0099	5.04e-05	0.0096	0.0151	0.0060	0.0074	0.0152	0.0045	0.0045	0.0048	0.0043	0.0133	0.0043	0.0041	0.0107	0.0097	0.0016	0.0088	0.0029	0.0069	0.0006	0.0057	0.0204	0.0059	0.0057	0.0133	0.484	0.08140	T	0.618	0.07741	T	0.006	0.16265	B	0.011	0.15521	B	0.248852	0.03633	N	1.421560	1	0.08975	N	0.675	0.16386	N	-1.51	0.81399	D	-1.25	0.31576	N	0.278	0.32370	-1.0118	0.26353	T	0.056	0.23677	T	10	0.009601146	0.00216	T	.	.	.	0.375	0.69358	0.476	0.55342	0.790772292906	0.78882	0.5454035550696645	0.54466	0.13614919438	0.15352	0.240530341864	0.02838	T	0.163459	0.50852	T	-0.328064	0.06259	T	-0.231693	0.51608	T	0.00183713152993083	0.00019	T	0.687031	0.29593	T	0.049764294	0.08885	0.06339117	0.12551	0.050919995	0.09274	0.058357354	0.10769	-3.4	0.18759	T	0.06951102923013433	0.02612	0.079	0.12750	B	.;.;.;.	.;.;.;.	0.943955	0.13196	9.698	0.79239687288419069	0.12652	0.02608	0.07182	N	AEFBI	0.040571	0.06054	N	-0.568814744440956	0.19897	1.04495	-0.618461886141582	0.19019	1.018611	6.80979325413761E-5	0.04366	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.59	-0.788	0.10387	-0.057000	0.11726	.	.	-0.182000	0.10109	0.059000	0.21734	0.003000	0.18671	0.955000	0.50612	0.0:0.4378:0.2572:0.3049	5.321	0.15186	712	0.56465	Domain of unknown function DUF1619;Domain of unknown function DUF1619;Domain of unknown function DUF1619;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.018649	0.020408	0.016304	0.017544	0.000000	0.000000	0.021341	0.034091	0.1667	564.06	34	chr10	95684564	.	C	T	564.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.6;DP=216;ExcessHet=0.4139;FS=1.963;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=7.33;ReadPosRankSum=1.33;SOR=0.941	GT:AD:DP:GQ:PL	0/1:34,11:45:99:264,0,853	4	0	2	0
chr10	95693676	95693676	G	A	exonic	TCTN3	.	nonsynonymous SNV	TCTN3:NM_001143973:exon1:c.C224T:p.A75V,TCTN3:NM_015631:exon1:c.C224T:p.A75V	Joubert syndrome 18, Autosomal recessive;Orofaciodigital syndrome IV, Autosomal recessive	9	1406	104	3	0	110	0.0376454	.	.	.	207806	Orofacial-digital_syndrome_IV|Joubert_syndrome_18|not_specified|not_provided	MONDO:MONDO:0009794,MedGen:C0406727,OMIM:258860,Orphanet:2753|MONDO:MONDO:0013896,MedGen:C3553758,OMIM:614815,Orphanet:2754|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.029	.	0.0050	0.00359425	0.0104	0.0005	0.0025	0	0.0126	0.0070	0.0142	0.0174	0.0023544	364	154602	rs41291570	0.0065	0.0062	0.0062	0.0067	0.0151	0.0063	0.0063	0.0144	0.0141	0.0021	0.0038	0.0100	2.798e-05	0.0097	0.0146	0.0059	0.0073	0.0151	0.0045	0.0045	0.0048	0.0043	0.0133	0.0042	0.0041	0.0107	0.0097	0.0015	0.0088	0.0029	0.0069	0.0008	0.0056	0.0204	0.0059	0.0057	0.0133	0.135	0.26192	T	0.284	0.26631	T	0.002	0.12183	B	0.004	0.17743	B	0.695638	0.10137	N	0.851711	1	0.08975	N	1.2	0.30300	L	-1.72	0.83241	D	-1.18	0.30140	N	0.02	0.00445	-1.0142	0.25593	T	0.043	0.18576	T	10	0.00509724	0.00110	T	.	.	.	0.089	0.25827	.	.	0.853917324909	0.85251	0.27649445813637197	0.27562	0.112868008101	0.12739	0.290317267179	0.08968	T	0.003843	0.03252	T	-0.429777	0.01487	T	-0.377798	0.35981	T	0.00188038530215611	0.00019	T	0.70393	0.31793	T	0.027774865	0.02017	0.0480095	0.07041	0.028834157	0.02283	0.03944964	0.04039	-4.12	0.25877	T	0.20698699571383888	0.27655	0.069	0.09045	B	.;.;.;.;.	.;.;.;.;.	1.137991	0.15248	11.71	0.98272581091808886	0.39777	0.00594	0.02659	N	AEFDGBHCI	0.051049	0.08981	N	-0.671870877272385	0.16825	0.8606815	-0.823356092228878	0.13929	0.725252	0.999999999731661	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.54	-0.71	0.10668	0.271000	0.18390	.	.	0.662000	0.56354	0.001000	0.13787	0.001000	0.17328	0.076000	0.17014	0.3648:0.162:0.4732:0.0	4.443	0.11007	714	0.56256	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.022837	0.015957	0.007937	0.026549	0.000000	0.000000	0.027473	0.036585	0.1667	2543.06	35	chr10	95693676	.	G	A	2543.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.057;DP=342;ExcessHet=0.4139;FS=6.46;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=0.469;SOR=1.142	GT:AD:DP:GQ:PL	0/1:47,34:81:99:914,0,1231	4	0	2	0
chr10	97358959	97358959	G	A	exonic	RRP12	.	nonsynonymous SNV	RRP12:NM_001284337:exon29:c.C3392T:p.A1131V,RRP12:NM_001145114:exon30:c.C3509T:p.A1170V,RRP12:NM_015179:exon32:c.C3692T:p.A1231V	.	425	1081	1	0	15	16	0.000462321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00911007255536	0.0019	0.000399361	0.0023	0	0.0003	0.0001	0.0059	0.0034	0.0011	0.0004	0.0020634	319	154602	rs143870774	0.0017	0.0017	0.0016	0.0017	0.0019	0.0016	0.0016	0.0011	0.0008	0.0001	0.0004	0.0426	0	0.0060	0.0019	0.0006	0.0041	0.0006	0.0020	0.0020	0.0021	0.0019	0.0009	0.0018	0.0018	0.0007	0.0006	0.0002	0	0.0009	0.0484	0.0002	0.0043	0	0.0009	0.0047	0.0002	0.288	0.21144	T	0.337	0.18505	T	0.166	0.28547	B	0.01	0.23607	B	0.000387	0.44960	D	0.228748	0.998741	0.45372	D	1.26	0.31868	L	1.46	0.32238	T	-1.33	0.33598	N	0.193	0.28381	-1.1013	0.03938	T	0.073	0.29578	T	10	0.004717946	0.00099	T	0.00911	0.23965	T	0.031	0.07369	.	.	0.461323234107	0.45759	0.07991919322229345	0.07926	0.160196289548	0.18072	0.377714782953	0.21931	T	0.017847	0.14492	T	-0.499612	0.00574	T	-0.515062	0.20796	T	0.0116000174216999	0.00176	T	0.858514	0.54939	D	0.060066026	0.12282	0.088116296	0.20524	0.060066026	0.12282	0.088116296	0.20524	-4.166	0.26257	T	.	.	0.077	0.11893	B	.;.;.;.	.;.;.;.	3.313190	0.45536	22.1	0.99508031820009402	0.68440	0.92289	0.55369	D	AEFDBI	0.275736	0.39063	N	-0.0386201263912661	0.40113	2.376653	0.0762438512687953	0.43356	2.639114	0.999999875395678	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	3.049000	0.49560	7.540000	0.60069	0.676000	0.76740	0.966000	0.33990	1.000000	0.68203	0.393000	0.26625	0.0733:0.0:0.9267:0.0	13.816	0.62787	477	0.77662	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.1667	5636.04	38	chr10	97358959	.	G	A	5636.04	.	AC=2;AF=0.167;AN=12;DP=381;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=30.3;SOR=0.782	GT:AD:DP:GQ:PL	1/1:0,186:186:99:5656,557,0	5	1	0	0
chr10	99535699	99535699	T	G	exonic	NKX2-3	.	nonsynonymous SNV	NKX2-3:NM_145285:exon2:c.T1073G:p.L358W	.	392	1113	17	0	0	17	0.00757914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.678	0.592578763692	0.0009	0.00159744	0.0040	0	0	0.0067	0	0.0054	0.0085	0.0035	0.00163	252	154602	rs151053941	0.0078	0.0077	0.0079	0.0076	0.0083	0.0076	0.0076	0.0081	0.0081	0.0014	0.0022	0.0006	5.619e-05	0.0265	0.0033	0.0083	0.0077	0.0036	0.0064	0.0064	0.0054	0.0074	0.0081	0.0061	0.0059	0.0075	0.0073	0.0009	0.0011	0.0022	0.0012	0	0.0304	0	0.0081	0.0038	0.0041	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.001578	0.38612	N	0.179445	0.999995	0.58761	D	1.955	0.52871	M	-3.9	0.96015	D	-3.55	0.68764	D	0.521	0.55106	0.783	0.94203	D	0.841	0.94694	D	10	0.00909999	0.00206	T	0.592579	0.96386	D	0.678	0.88157	.	.	0.944269752372	0.94368	0.6554799917472944	0.65483	.	.	0.868391275406	0.92338	D	0.548031	0.84645	D	-0.132778	0.31047	T	0.0424707	0.73090	D	0.020649831566782	0.00765	T	0.778122	0.41194	T	0.46844074	0.65194	0.6121335	0.77433	0.46844074	0.65195	0.6121335	0.77434	-12.411	0.86795	D	.	.	0.631	0.70162	P	.	.	4.719219	0.75895	26.4	0.96488875591026602	0.29998	0.98631	0.84914	D	AEFDBHCI	0.835384	0.75330	D	0.57741436756974	0.71767	5.701153	0.546857599013741	0.71179	5.615544	0.999999986785329	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.61	4.61	0.56724	4.082000	0.57357	6.000000	0.52472	0.574000	0.29054	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	11.982	0.52417	675	0.60470	.	.	.	.	.	.	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	0.004831	0.012658	0.000000	0.003448	0.000000	0.000000	0.000000	0.022321	0.1667	814.04	33	chr10	99535699	.	T	G	814.04	.	AC=2;AF=0.167;AN=12;DP=159;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=28.07;SOR=1.071	GT:AD:DP:GQ:PL	1/1:0,29:29:87:834,87,0	5	1	0	0
chr10	104132169	104132169	G	C	exonic	CFAP43	.	nonsynonymous SNV	CFAP43:NM_025145:exon36:c.C4624G:p.L1542V	.	448	1063	11	0	0	11	0.0051474	.	.	.	723746	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.078	.	0.0069	0.00279553	0.0059	0.0016	0.0016	0.0001	0.0185	0.0079	0.0111	0.0013	0.0058861	910	154602	rs117628923	0.0081	0.0083	0.0082	0.0080	0.0093	0.0080	0.0079	0.0091	0.0090	0.0012	0.0019	0.0038	0	0.0144	0.0042	0.0093	0.0070	0.0012	0.0069	0.0069	0.0064	0.0073	0.0104	0.0065	0.0064	0.0098	0.0095	0.0015	0	0.0029	0.0058	0	0.0185	0.0034	0.0104	0.0047	0.0004	0.533	0.06957	T	0.538	0.09829	T	0.016	0.17332	B	0.015	0.17295	B	0.766030	0.06569	N	1.117320	1	0.08975	N	.	.	.	2.43	0.15261	T	-0.92	0.24676	N	0.059	0.03069	-0.9567	0.39789	T	0.018	0.07234	T	10	0.0041635334	0.00082	T	.	.	.	0.078	0.22779	.	.	0.168933306366	0.16529	0.1084092326192951	0.10769	0.135154410635	0.15236	0.33329898119	0.15431	T	0.038538	0.24874	T	-0.638543	0.00085	T	-0.676374	0.07207	T	0.00115991688880688	0.00011	T	0.591241	0.21771	T	0.054739755	0.10543	0.0370163	0.03266	0.06877512	0.15012	0.0370163	0.03266	-3.556	0.17225	T	.	.	0.070	0.03336	B	.	.	0.097533	0.04999	1.555	0.79197822263401085	0.12634	0.04901	0.10649	N	AEFI	0.102194	0.20507	N	-0.913252472871489	0.10531	0.503697	-0.874504713171561	0.12699	0.6547974	0.0233597202525796	0.13501	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.68	1.65	0.23015	-0.209000	0.09362	-0.313000	0.10024	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.889000	0.42754	0.1466:0.1315:0.3395:0.3824	2.002	0.03257	46	0.97728	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.003788	0.1667	1906.04	35	chr10	104132169	.	G	C	1906.04	.	AC=2;AF=0.167;AN=12;DP=233;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=30.74;SOR=1.057	GT:AD:DP:GQ:PL	1/1:0,62:62:99:1926,186,0	5	1	0	0
chr10	110887675	110887675	G	A	exonic	PDCD4	.	nonsynonymous SNV	PDCD4:NM_001199492:exon6:c.G524A:p.R175K,PDCD4:NM_014456:exon6:c.G566A:p.R189K,PDCD4:NM_145341:exon7:c.G533A:p.R178K	.	439	1067	16	0	0	16	0.00744186	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0073	0.00219649	0.0057	0.0010	0.0015	0.0001	0.0015	0.0078	0.0011	0.0078	0.0057308	886	154602	rs41292600	0.0075	0.0076	0.0075	0.0075	0.0087	0.0074	0.0074	0.0085	0.0084	0.0013	0.0016	0.0021	2.523e-05	0.0018	0.0035	0.0086	0.0065	0.0087	0.0043	0.0043	0.0045	0.0040	0.0077	0.0040	0.0039	0.0072	0.0070	0.0011	0	0.0014	0.0029	0	0.0015	0.0034	0.0077	0.0014	0.0058	0.866	0.02645	T	0.81	0.03945	T	0.0	0.02946	B	0.0	0.01387	B	0.000893	0.41231	N	0.306707	0.611103	0.30859	N	-0.885	0.01428	N	1.11	0.38883	T	0.27	0.04613	N	0.211	0.24260	-1.0280	0.21103	T	0.026	0.11264	T	10	0.006033033	0.00135	T	.	.	.	0.031	0.07369	.	.	0.331365685468	0.32749	0.11551021145616212	0.11479	0.0801815698632	0.09021	0.464049398899	0.33865	T	0.086468	0.37731	T	-0.563403	0.00242	T	-0.574104	0.15076	T	0.0080877243915791	0.00096	T	0.789121	0.43226	T	0.13961773	0.32244	0.100998275	0.24165	0.13961773	0.32243	0.100998275	0.24164	-2.422	0.05269	T	.	.	0.057	0.00847	B	.;.;.	.;.;.	2.226593	0.28416	17.79	0.77160864429619147	0.11761	0.83016	0.42171	D	AEFGBI	0.399474	0.47474	N	-0.541337491499308	0.20756	1.096543	-0.296226684923381	0.28223	1.571882	0.999833536559305	0.43792	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.72	3.87	0.43823	1.529000	0.35602	7.273000	0.57997	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.3582:0.0:0.6418:0.0	7.220	0.25160	930	0.16408	.;Initiation factor eIF-4 gamma, MA3|Initiation factor eIF-4 gamma, MA3|Initiation factor eIF-4 gamma, MA3;Initiation factor eIF-4 gamma, MA3|Initiation factor eIF-4 gamma, MA3|Initiation factor eIF-4 gamma, MA3	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.006793	0.000000	0.000000	0.000000	0.009146	0.015152	0.08333	258.83	37	chr10	110887675	.	G	A	258.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.714;DP=209;ExcessHet=0;FS=1.533;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.09;ReadPosRankSum=-0.643;SOR=0.327	GT:AD:DP:GQ:PL	0/1:20,12:32:99:269,0,581	5	0	1	0
chr10	119677179	119677179	C	T	exonic	BAG3	.	nonsynonymous SNV	BAG3:NM_004281:exon4:c.C1625T:p.A542V	Cardiomyopathy, dilated, 1HH, Autosomal dominant;Myopathy, myofibrillar, 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	956002	not_provided|Dilated_cardiomyopathy_1HH|Myofibrillar_myopathy_6|Cardiovascular_phenotype	MedGen:C3661900|MONDO:MONDO:0013479,MedGen:C3151293,OMIM:613881,Orphanet:154|MONDO:MONDO:0013061,MedGen:C2751831,OMIM:612954,Orphanet:199340|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.113	0.0121564339071	.	.	4.957e-05	0	0.0003	0	0	4.509e-05	0	0	3.88e-05	6	154602	rs770920565	2.873e-05	2.873e-05	2.586e-05	3.163e-05	0.0002	2.151e-05	1.908e-05	8.861e-05	6.427e-05	2.987e-05	0.0002	0	0	0	0.0002	2.518e-05	4.967e-05	1.159e-05	3.942e-05	3.94e-05	2.569e-05	5.38e-05	6.546e-05	1.715e-05	1.129e-05	1.972e-05	1.124e-05	2.413e-05	0	6.546e-05	0	0	0	0	5.879e-05	0	0	0.065	0.36310	T	0.18	0.29442	T	0.023	0.18885	B	0.013	0.16460	B	0.079069	0.02334	N	1.778870	1	0.08975	N	0	0.06538	N	-0.83	0.74159	T	-0.53	0.16393	N	0.036	0.01068	-0.9547	0.40149	T	0.173	0.51611	T	10	0.03840652	0.02257	T	0.012156	0.30482	T	0.113	0.31778	0.132	0.03662	0.718724004411	0.71625	0.17337426672339964	0.17257	0.0684803718917	0.07664	0.21866902709	0.01234	T	0.059476	0.31125	T	-0.391852	0.02617	T	-0.574943	0.15000	T	0.0206084726331408	0.00761	T	0.552145	0.19060	T	0.01661879	0.00210	0.031508386	0.01749	0.01661879	0.00210	0.031508386	0.01748	-4.655	0.32855	T	0.10993972292819694	0.09235	0.074	0.05017	B	.	.	-0.722378	0.01269	0.066	0.92087276727433853	0.21436	0.15164	0.18776	N	AEFDGBCI	.	.	.	-1.39119691505376	0.02720	0.1205039	-1.42827522466776	0.02972	0.1377852	0.999487478241731	0.39952	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.05	-4.55	0.03197	-0.436000	0.06992	0.492000	0.18911	-0.770000	0.03453	0.000000	0.06391	0.058000	0.21979	0.052000	0.15357	0.2828:0.3929:0.3243:0.0	7.899	0.28888	911	0.21964	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1997.83	52	chr10	119677179	.	C	T	1997.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.145;DP=360;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.14;ReadPosRankSum=-1.18;SOR=0.735	GT:AD:DP:GQ:PL	0/1:55,77:132:99:2008,0,1408	5	0	1	0
chr10	119898750	119898750	C	G	exonic	SEC23IP	.	nonsynonymous SNV	SEC23IP:NM_007190:exon2:c.C487G:p.L163V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.120769286184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.03e-05	0.0002	1.093e-05	9.654e-06	1.174e-05	6.18e-06	4.9e-06	6.55e-06	5.05e-06	0	0	0	0	0	0	1.174e-05	3.32e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.556	0.06461	T	0.821	0.12246	T	0.104	0.25941	B	0.062	0.26930	B	0.000005	0.62929	D	0.107180	1	0.81001	D	1.78	0.46185	L	-4.25	0.97054	D	0.01	0.06868	N	0.207	0.22998	0.479	0.90252	D	0.815	0.93762	D	10	0.15099514	0.28548	T	0.120769	0.80138	D	0.336	0.65816	0.186	0.09517	0.849074084723	0.84762	0.11778504863915601	0.11705	0.144110295782	0.16271	0.353825509548	0.18484	T	0.091547	0.38818	T	0.043976	0.57564	T	-0.174608	0.57021	T	0.556831955909729	0.34735	D	0.738826	0.35731	T	0.14919165	0.34025	0.09147891	0.21510	0.14919165	0.34024	0.09147891	0.21510	-3.167	0.12082	T	.	.	0.071	0.05274	B	.;.	.;.	1.155811	0.15440	11.85	0.95415677836796886	0.26887	0.98451	0.82913	D	AEFGBI	0.532298	0.55222	D	-0.292483383673774	0.29436	1.632456	-0.16913862766753	0.32679	1.861587	0.999999898467037	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	4.65	0.57626	2.670000	0.46499	2.509000	0.33065	0.599000	0.40250	1.000000	0.71638	0.997000	0.33255	0.518000	0.29429	0.0:0.9277:0.0:0.0723	14.037	0.64172	631	0.64944	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	62.12	107	chr10	119898750	.	C	G	62.12	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-3.588;DP=684;ExcessHet=0;FS=259.845;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.65;ReadPosRankSum=1.47;SOR=8.349	GT:AD:DP:GQ:PL	0/1:75,21:108:69:69,0,1500	2	0	1	3
chr10	124989543	124989543	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.A1517G:p.N506S,CTBP2:NM_022802:exon9:c.A2933G:p.N978S,CTBP2:NM_001321013:exon10:c.A1313G:p.N438S,CTBP2:NM_001083914:exon11:c.A1313G:p.N438S,CTBP2:NM_001290214:exon11:c.A1313G:p.N438S,CTBP2:NM_001290215:exon11:c.A1313G:p.N438S,CTBP2:NM_001321012:exon11:c.A1313G:p.N438S,CTBP2:NM_001321014:exon11:c.A1313G:p.N438S,CTBP2:NM_001329:exon11:c.A1313G:p.N438S	.	430	785	300	7	0	314	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.0412206901109	.	.	.	.	.	.	.	.	.	.	0.0011526	30	26028	rs75839774	4.107e-06	4.104e-06	5.449e-06	2.752e-06	4.497e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.61437	D	0.553	0.32461	T	0.017	0.35330	B	0.044	0.44683	B	0.040786	0.24019	N	0.433304	0.546531	0.31369	N	1.1	0.28011	L	-1.58	0.82806	D	-0.98	0.25986	N	0.097	0.39153	-0.2662	0.75916	T	0.330	0.69766	T	10	0.12751639	0.24250	T	0.041221	0.59806	D	0.362	0.68230	0.075	0.00517	0.760080849401	0.75790	0.26369227103169535	0.26282	1.68067603589	0.89969	0.448414385319	0.31727	T	0.157679	0.50038	T	0.0363132	0.56560	T	-0.185615	0.55999	T	0.436808287713247	0.30312	T	0.90311	0.67973	D	0.08655811	0.20123	0.08484771	0.19547	0.08655811	0.20122	0.08484771	0.19547	-2.304	0.04577	T	.	.	0.070	0.03588	B	.;.;.;.;.;.	.;.;.;.;.;.	2.477890	0.31950	18.89	0.9913628706847909	0.53410	0.86806	0.46168	D	AEFDGBCI	0.540087	0.55679	D	-0.275999058280499	0.30077	1.67381	-0.0903501737703044	0.35788	2.074695	0.999999280419097	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	3.98	0.45383	2.629000	0.46152	0.448000	0.18493	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.0:0.0728:0.0:0.9272	11.061	0.47165	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3886.55	86	chr10	124989543	.	T	C	3886.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.798;DP=634;ExcessHet=11.5949;FS=16.072;MLEAC=6;MLEAF=0.5;MQ=50.35;MQRankSum=-6.863;QD=6.18;ReadPosRankSum=0.379;SOR=0.178	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,20:104:99:0|1:124989533_G_A:368,0,3376:124989533	0	0	6	0
chr10	124989565	124989565	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon9:c.1495delC:p.Q499Sfs*36,CTBP2:NM_022802:exon9:c.2911delC:p.Q971Sfs*36,CTBP2:NM_001321013:exon10:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001083914:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290214:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290215:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321012:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321014:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001329:exon11:c.1291delC:p.Q431Sfs*36	.	440	850	230	2	0	234	0.120993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs146097043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1855.48	93	chr10	124989564	.	TG	T	1855.48	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.937;DP=669;ExcessHet=6.1542;FS=22.753;MLEAC=5;MLEAF=0.417;MQ=52.45;MQRankSum=-6.151;QD=3.55;ReadPosRankSum=-1.825;SOR=0.183	GT:AD:DP:GQ:PL	0/1:88,15:103:99:251,0,2979	1	0	5	0
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H,CTBP2:NM_022802:exon5:c.A2380C:p.N794H,CTBP2:NM_001321013:exon6:c.A760C:p.N254H,CTBP2:NM_001083914:exon7:c.A760C:p.N254H,CTBP2:NM_001290214:exon7:c.A760C:p.N254H,CTBP2:NM_001290215:exon7:c.A760C:p.N254H,CTBP2:NM_001321012:exon7:c.A760C:p.N254H,CTBP2:NM_001321014:exon7:c.A760C:p.N254H,CTBP2:NM_001329:exon7:c.A760C:p.N254H	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.855	0.287995004976	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913075834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.53900	D	0.014	0.69154	D	1.0	0.90584	D	0.995	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.03	0.86425	M	-1.64	0.82533	D	-4.7	0.80510	D	0.955	0.96416	0.598	0.91868	D	0.722	0.90485	D	10	0.93609107	0.92939	D	0.287995	0.90464	D	0.855	0.95544	0.749	0.87988	0.908261012674	0.90733	0.9221523146368497	0.92192	2.0305426451	0.94091	0.826209723949	0.85982	D	0.743281	0.92907	D	0.230793	0.76796	D	0.0937411	0.76494	D	0.996190285808554	0.88852	D	0.970303	0.89317	D	0.91641486	0.92901	0.8315015	0.90282	0.91641486	0.92902	0.8315015	0.90283	-11.706	0.83405	D	.	.	0.818	0.83534	P	.;.;.;.;.;.	.;.;.;.;.;.	4.739043	0.76411	26.5	0.99694374199735813	0.80180	0.94484	0.61314	D	AEFDGBCI	0.936668	0.93334	D	0.798915340390827	0.86037	8.759083	0.761626191030682	0.87022	9.081087	0.999999999999979	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	7.674000	0.83146	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.357	0.74148	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	1416.52	147	chr10	124994489	.	T	G	1416.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=2.95;DP=755;ExcessHet=6.1542;FS=33.012;MLEAC=5;MLEAF=0.417;MQ=58.07;MQRankSum=-8.191;QD=2.09;ReadPosRankSum=-3.293;SOR=3.845	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,12:108:99:0|1:124994489_T_G:215,0,3995:124994489	1	0	5	0
chr10	124994501	124994501	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C952T:p.H318Y,CTBP2:NM_022802:exon5:c.C2368T:p.H790Y,CTBP2:NM_001321013:exon6:c.C748T:p.H250Y,CTBP2:NM_001083914:exon7:c.C748T:p.H250Y,CTBP2:NM_001290214:exon7:c.C748T:p.H250Y,CTBP2:NM_001290215:exon7:c.C748T:p.H250Y,CTBP2:NM_001321012:exon7:c.C748T:p.H250Y,CTBP2:NM_001321014:exon7:c.C748T:p.H250Y,CTBP2:NM_001329:exon7:c.C748T:p.H250Y	.	426	821	272	3	0	278	0.144792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.771	0.0948171006631	.	.	.	.	.	.	.	.	.	.	.	.	.	rs978705792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.42487	T	0.297	0.31125	T	0.868	0.47740	P	0.617	0.54186	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.11	0.08516	N	-1.36	0.80125	T	-5.44	0.85541	D	0.915	0.92084	-0.1289	0.79427	T	0.435	0.77536	T	10	0.7908057	0.78643	D	0.094817	0.76319	D	0.771	0.92294	0.486	0.56939	0.919217431084	0.91840	0.9252807218489828	0.92505	1.25117579951	0.81802	0.887714266777	0.94973	D	0.545829	0.84532	D	0.352326	0.86659	D	0.268315	0.86483	D	0.94890558719635	0.62996	D	0.972303	0.89961	D	0.826035	0.85629	0.7361207	0.84404	0.826035	0.85631	0.7361207	0.84405	-9.649	0.71784	D	.	.	0.781	0.76420	P	.;.;.;.;.;.	.;.;.;.;.;.	4.665783	0.74522	26.2	0.99760421591352766	0.85011	0.95027	0.63172	D	AEFDGBCI	0.931287	0.91988	D	0.465501566800638	0.65087	4.778689	0.565123419115292	0.72454	5.812716	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.771000	0.84203	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	2194.52	159	chr10	124994501	.	G	A	2194.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.641;DP=861;ExcessHet=6.1542;FS=33.341;MLEAC=5;MLEAF=0.417;MQ=57.59;MQRankSum=-7.95;QD=3.04;ReadPosRankSum=-2.138;SOR=3.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,16:114:99:0|1:124994489_T_G:372,0,4067:124994489	1	0	5	0
chr10	124994505	124994505	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T948A:p.H316Q,CTBP2:NM_022802:exon5:c.T2364A:p.H788Q,CTBP2:NM_001321013:exon6:c.T744A:p.H248Q,CTBP2:NM_001083914:exon7:c.T744A:p.H248Q,CTBP2:NM_001290214:exon7:c.T744A:p.H248Q,CTBP2:NM_001290215:exon7:c.T744A:p.H248Q,CTBP2:NM_001321012:exon7:c.T744A:p.H248Q,CTBP2:NM_001321014:exon7:c.T744A:p.H248Q,CTBP2:NM_001329:exon7:c.T744A:p.H248Q	.	423	816	278	5	0	288	0.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	0.0731369313184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937366751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.46513	D	0.259	0.44702	T	0.682	0.41464	P	0.219	0.43945	B	0.000000	0.84330	D	0.000000	0.999904	0.50806	D	-0.715	0.01801	N	-1.26	0.79176	T	-6.79	0.93135	D	0.687	0.70000	-0.8006	0.55109	T	0.184	0.53255	T	10	0.5356107	0.63429	D	0.073137	0.71713	D	0.476	0.76816	0.447	0.50629	0.947376611969	0.94682	0.8013614072212495	0.80090	0.902566627065	0.70693	0.888023793697	0.95012	D	0.559992	0.85254	D	0.155552	0.69787	D	-0.0143363	0.69401	D	0.887895047664642	0.53844	D	0.743426	0.36288	T	0.90044665	0.91423	0.7164848	0.83265	0.90044665	0.91424	0.7164848	0.83266	-12.552	0.89160	D	.	.	0.886	0.85521	P	.;.;.;.;.;.	.;.;.;.;.;.	3.763339	0.54010	23.4	0.97895156658106663	0.36704	0.72838	0.35639	D	AEFDGBCI	0.464485	0.51296	N	-0.261912955812249	0.30631	1.70973	-0.146100228405978	0.33558	1.920874	0.999999244525417	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	1.37	0.21200	1.883000	0.39293	2.678000	0.33996	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.5559:0.0:0.4441:0.0	8.31	0.31226	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	2212.52	159	chr10	124994505	.	A	T	2212.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=1.83;DP=871;ExcessHet=6.1542;FS=33.335;MLEAC=5;MLEAF=0.417;MQ=57.51;MQRankSum=-7.894;QD=3.09;ReadPosRankSum=-1.23;SOR=3.679	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,16:112:99:0|1:124994489_T_G:378,0,3983:124994489	1	0	5	0
chr10	124994530	124994530	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C923T:p.S308F,CTBP2:NM_022802:exon5:c.C2339T:p.S780F,CTBP2:NM_001321013:exon6:c.C719T:p.S240F,CTBP2:NM_001083914:exon7:c.C719T:p.S240F,CTBP2:NM_001290214:exon7:c.C719T:p.S240F,CTBP2:NM_001290215:exon7:c.C719T:p.S240F,CTBP2:NM_001321012:exon7:c.C719T:p.S240F,CTBP2:NM_001321014:exon7:c.C719T:p.S240F,CTBP2:NM_001329:exon7:c.C719T:p.S240F	.	421	688	403	10	0	423	0.235131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.938	0.47632593724	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374871777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.59928	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-1.61	0.82254	D	-5.08	0.82896	D	0.976	0.98657	0.694	0.93099	D	0.759	0.91795	D	10	0.9291788	0.92260	D	0.476326	0.94766	D	0.938	0.98636	0.718	0.85319	0.963037453765	0.96263	0.9856555258906051	0.98558	2.08621322631	0.94675	0.860175311565	0.91136	D	0.733508	0.92560	D	0.422049	0.91127	D	0.368468	0.91016	D	0.994980752468109	0.86633	D	0.836416	0.50788	T	0.98504084	0.99469	0.92532665	0.96770	0.98504084	0.99469	0.92532665	0.96771	-14.995	0.96879	D	.	.	0.993	0.95154	P	.;.;.;.;.;.	.;.;.;.;.;.	5.187974	0.87005	29.1	0.99852028210273314	0.93102	0.95134	0.63563	D	AEFDGBCI	0.931287	0.91988	D	0.925236055449727	0.92941	11.72177	0.873600535312142	0.94317	12.66702	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	9.602000	0.97623	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3005.55	168	chr10	124994530	.	G	A	3005.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.746;DP=943;ExcessHet=11.5949;FS=48.068;MLEAC=6;MLEAF=0.5;MQ=56.62;MQRankSum=-6.592;QD=3.63;ReadPosRankSum=2.07;SOR=4.191	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,20:116:99:0|1:124994523_G_A:520,0,3794:124994523	0	0	6	0
chr10	124994542	124994542	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G911A:p.S304N,CTBP2:NM_022802:exon5:c.G2327A:p.S776N,CTBP2:NM_001321013:exon6:c.G707A:p.S236N,CTBP2:NM_001083914:exon7:c.G707A:p.S236N,CTBP2:NM_001290214:exon7:c.G707A:p.S236N,CTBP2:NM_001290215:exon7:c.G707A:p.S236N,CTBP2:NM_001321012:exon7:c.G707A:p.S236N,CTBP2:NM_001321014:exon7:c.G707A:p.S236N,CTBP2:NM_001329:exon7:c.G707A:p.S236N	.	418	797	293	14	0	321	0.167624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	0.520636706354	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs78155918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.004	0.79402	D	0.994	0.66517	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.19	0.88972	M	-1.86	0.84341	D	-2.9	0.61580	D	0.951	0.95956	0.923	0.96008	D	0.835	0.94461	D	10	0.96767014	0.96284	D	0.520637	0.95441	D	0.881	0.96502	0.859	0.95718	0.8508886717	0.84945	0.9945051231415541	0.99447	1.72531923595	0.90642	0.895219087601	0.95893	D	0.849948	0.96576	D	0.195726	0.73494	D	0.04337	0.73148	D	0.993175552752073	0.83871	D	0.98969	0.96662	D	0.9860643	0.99535	0.9414922	0.97865	0.9860643	0.99535	0.9414922	0.97866	-14.163	0.96648	D	.	.	0.990	0.93538	P	.;.;.;.;.;.	.;.;.;.;.;.	4.768549	0.77163	26.6	0.99793032458852304	0.87839	0.92617	0.56134	D	AEFDGBCI	0.921115	0.89410	D	0.951529578297244	0.94047	12.46209	0.869409228877299	0.94098	12.50256	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.568000	0.81546	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1629.54	164	chr10	124994542	.	C	T	1629.54	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.508;DP=944;ExcessHet=11.5949;FS=56.34;MLEAC=6;MLEAF=0.5;MQ=56.51;MQRankSum=-6.252;QD=2.04;ReadPosRankSum=3.19;SOR=4.285	GT:AD:DP:GQ:PL	0/1:87,23:110:99:360,0,2453	0	0	6	0
chr10	124994563	124994563	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T890A:p.L297Q,CTBP2:NM_022802:exon5:c.T2306A:p.L769Q,CTBP2:NM_001321013:exon6:c.T686A:p.L229Q,CTBP2:NM_001083914:exon7:c.T686A:p.L229Q,CTBP2:NM_001290214:exon7:c.T686A:p.L229Q,CTBP2:NM_001290215:exon7:c.T686A:p.L229Q,CTBP2:NM_001321012:exon7:c.T686A:p.L229Q,CTBP2:NM_001321014:exon7:c.T686A:p.L229Q,CTBP2:NM_001329:exon7:c.T686A:p.L229Q	.	408	769	327	18	0	363	0.190952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.960	0.547155886187	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs150320719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.835	0.82492	M	-1.85	0.84267	D	-5.78	0.88699	D	0.932	0.93841	0.754	0.93845	D	0.782	0.92582	D	10	0.9727028	0.96922	D	0.547156	0.95809	D	0.960	0.99376	0.857	0.95604	0.951774941741	0.95126	0.9701566259621512	0.97004	2.04308220201	0.94282	0.848910570145	0.89450	D	0.853663	0.96692	D	0.45783	0.92829	D	0.419864	0.92740	D	0.999412894248962	0.97310	D	0.830117	0.49576	T	0.9576254	0.97040	0.9405844	0.97806	0.9576254	0.97041	0.9405844	0.97806	-13.719	0.92108	D	.	.	0.992	0.94272	P	.;.;.;.;.;.	.;.;.;.;.;.	5.061375	0.84364	28.3	0.99631799569558666	0.76081	0.94544	0.61510	D	AEFDGBCI	0.948042	0.95924	D	0.879361810884359	0.90712	10.53043	0.831570877214738	0.91895	11.12529	0.999999999999983	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	5.42	0.78666	8.947000	0.92735	11.208000	0.89295	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.466	0.75135	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1627.61	163	chr10	124994563	.	A	T	1627.61	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.781;DP=939;ExcessHet=3.1439;FS=59.81;MLEAC=4;MLEAF=0.333;MQ=56.33;MQRankSum=-6.314;QD=2.9;ReadPosRankSum=3.01;SOR=4.512	GT:AD:DP:GQ:PL	0/1:82,24:106:99:377,0,2237	2	0	4	0
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H,CTBP2:NM_022802:exon5:c.G2292T:p.Q764H,CTBP2:NM_001321013:exon6:c.G672T:p.Q224H,CTBP2:NM_001083914:exon7:c.G672T:p.Q224H,CTBP2:NM_001290214:exon7:c.G672T:p.Q224H,CTBP2:NM_001290215:exon7:c.G672T:p.Q224H,CTBP2:NM_001321012:exon7:c.G672T:p.Q224H,CTBP2:NM_001321014:exon7:c.G672T:p.Q224H,CTBP2:NM_001329:exon7:c.G672T:p.Q224H	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	0.0892909269972	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs80025996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.63226	D	0.087	0.69154	T	0.964	0.68779	D	0.898	0.69447	P	0.000000	0.84330	D	0.000000	0.999957	0.58761	D	0.49	0.13296	N	-1.71	0.83815	D	-3.39	0.66896	D	0.743	0.76111	0.130	0.84714	D	0.526	0.82375	D	10	0.69303375	0.71973	D	0.089291	0.75298	D	0.696	0.89007	0.404	0.43573	0.949204094444	0.94866	0.8408413105034186	0.84044	1.71814521226	0.90529	0.835075438023	0.87341	D	0.524087	0.83410	D	0.323687	0.84732	D	0.227177	0.84532	D	0.984627544879913	0.75871	D	0.969203	0.88895	D	0.8669297	0.88620	0.72212815	0.83591	0.8669297	0.88622	0.72212815	0.83592	-9.982	0.77738	D	.	.	0.579	0.68002	P	.;.;.;.;.;.	.;.;.;.;.;.	4.008335	0.59116	24.1	0.99735057696966967	0.83047	0.87870	0.47561	D	AEFDGBCI	0.735142	0.68105	D	0.394708730247093	0.61135	4.310599	0.421330055103997	0.62895	4.513037	0.999999999997443	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	4.51	0.54589	3.891000	0.55940	4.055000	0.41540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9224:0.0:0.0776	13.270	0.59589	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4211.55	168	chr10	124994577	.	C	A	4211.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.901;DP=938;ExcessHet=11.5949;FS=67.395;MLEAC=6;MLEAF=0.5;MQ=56.29;MQRankSum=-6.279;QD=5.19;ReadPosRankSum=2.52;SOR=4.555	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,24:104:99:0|1:124994577_C_A:767,0,3242:124994577	0	0	6	0
chr10	125003448	125003448	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C307G:p.L103V,CTBP2:NM_022802:exon2:c.C1723G:p.L575V,CTBP2:NM_001321013:exon3:c.C103G:p.L35V,CTBP2:NM_001083914:exon4:c.C103G:p.L35V,CTBP2:NM_001290214:exon4:c.C103G:p.L35V,CTBP2:NM_001290215:exon4:c.C103G:p.L35V,CTBP2:NM_001321012:exon4:c.C103G:p.L35V,CTBP2:NM_001321014:exon4:c.C103G:p.L35V,CTBP2:NM_001329:exon4:c.C103G:p.L35V	.	415	822	281	4	0	289	0.149509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.0482046556134	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs3198920	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.46129	T	0.06	0.70582	T	0.977	0.70673	D	0.695	0.72444	P	0.000204	0.47681	D	0.143597	0.999973	0.53665	D	1.24	0.30952	L	0.56	0.54540	T	-2.77	0.59545	D	0.749	0.74918	-0.7112	0.59893	T	0.257	0.62699	T	10	0.56829476	0.65175	D	0.048205	0.63269	D	0.276	0.59253	0.336	0.32491	0.772200913293	0.77011	0.9284518054969177	0.92823	1.54105169968	0.87712	0.653429269791	0.60473	T	0.450833	0.79179	T	0.0930372	0.63530	D	-0.104135	0.63075	T	0.921929836273193	0.58181	D	0.835916	0.50694	T	0.38344187	0.59564	0.2654763	0.52381	0.38344187	0.59565	0.2654763	0.52380	-11.24	0.86033	D	.	.	0.857	0.85926	P	.;.;.;.;.;.	.;.;.;.;.;.	4.413740	0.68303	25.2	0.95986553857963608	0.28374	0.93332	0.57934	D	AEFDBHCI	0.721280	0.67158	D	0.197166407657861	0.51063	3.290622	0.0912559216929815	0.44107	2.69894	0.999999466762818	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	1.83	0.24279	4.055000	0.57153	3.753000	0.39691	-0.154000	0.11915	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.3038:0.0:0.6962:0.0	9.074	0.35672	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3	268.59	62	chr10	125003448	.	G	C	268.59	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.52;DP=253;ExcessHet=1.383;FS=1.013;MLEAC=3;MLEAF=0.3;MQ=58.86;MQRankSum=-5.588;QD=2.05;ReadPosRankSum=1.01;SOR=0.926	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,3:33:36:0|1:125003425_G_C:36,0,1251:125003425	2	0	3	1
chr10	125003450	125003450	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C305T:p.P102L,CTBP2:NM_022802:exon2:c.C1721T:p.P574L,CTBP2:NM_001321013:exon3:c.C101T:p.P34L,CTBP2:NM_001083914:exon4:c.C101T:p.P34L,CTBP2:NM_001290214:exon4:c.C101T:p.P34L,CTBP2:NM_001290215:exon4:c.C101T:p.P34L,CTBP2:NM_001321012:exon4:c.C101T:p.P34L,CTBP2:NM_001321014:exon4:c.C101T:p.P34L,CTBP2:NM_001329:exon4:c.C101T:p.P34L	.	415	825	279	3	0	285	0.147287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.538	0.184870613505	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796256730	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.68238	D	0.003	0.83351	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	N	0.048585	1	0.81001	D	2.215	0.62545	M	0.4	0.57261	T	-9.29	0.98415	D	0.771	0.82559	-0.3944	0.72203	T	0.310	0.68003	T	10	0.77988756	0.77765	D	0.184871	0.85777	D	0.538	0.80664	0.515	0.61459	0.793810481979	0.79189	0.9928132138473921	0.99277	2.02998117833	0.94073	0.801052808762	0.82123	T	0.591617	0.86780	D	0.254993	0.79067	D	0.128504	0.78794	D	0.999326944351196	0.96966	D	0.948805	0.80311	D	0.80739933	0.84383	0.63186806	0.78521	0.80739933	0.84384	0.63186806	0.78522	-10.77	0.87601	D	.	.	0.981	0.91262	P	.;.;.;.;.;.	.;.;.;.;.;.	5.876492	0.93912	33	0.99537415390314665	0.70274	0.97949	0.78358	D	AEFDBHCI	0.949159	0.96151	D	0.396560092074224	0.61236	4.321908	0.310569273267847	0.56158	3.779008	0.999999999991253	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	3.81	0.43020	10.003000	0.99689	11.566000	0.93257	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1423:0.8577:0.0	15.129	0.72177	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	187.59	63	chr10	125003450	.	G	A	187.59	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.524;DP=245;ExcessHet=1.383;FS=3.987;MLEAC=3;MLEAF=0.3;MQ=58.98;MQRankSum=-5.498;QD=1.47;ReadPosRankSum=0.804;SOR=1.32	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,3:32:39:0|1:125003425_G_C:39,0,1209:125003425	2	0	3	1
chr10	125003454	125003454	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.301delC:p.R101Afs*19,CTBP2:NM_022802:exon2:c.1717delC:p.R573Afs*19,CTBP2:NM_001321013:exon3:c.97delC:p.R33Afs*19,CTBP2:NM_001083914:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001290214:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001290215:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001321012:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001321014:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001329:exon4:c.97delC:p.R33Afs*19	.	418	851	251	2	0	255	0.130301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.007e-07	3.42e-06	0	1.411e-06	.	0	0	.	.	0	0	0	0	1.924e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	184.99	64	chr10	125003453	.	CG	C	184.99	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.666;DP=242;ExcessHet=1.383;FS=3.987;MLEAC=3;MLEAF=0.25;MQ=58.98;MQRankSum=-5.498;QD=1.45;ReadPosRankSum=0.473;SOR=1.32	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,3:32:39:0|1:125003425_G_C:39,0,1209:125003425	3	0	3	0
chr10	125003460	125003460	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C295A:p.H99N,CTBP2:NM_022802:exon2:c.C1711A:p.H571N,CTBP2:NM_001321013:exon3:c.C91A:p.H31N,CTBP2:NM_001083914:exon4:c.C91A:p.H31N,CTBP2:NM_001290214:exon4:c.C91A:p.H31N,CTBP2:NM_001290215:exon4:c.C91A:p.H31N,CTBP2:NM_001321012:exon4:c.C91A:p.H31N,CTBP2:NM_001321014:exon4:c.C91A:p.H31N,CTBP2:NM_001329:exon4:c.C91A:p.H31N	.	415	860	246	1	0	248	0.126016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554	0.0669258259103	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs796388243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.56456	D	0.108	0.50514	T	0.168	0.51467	B	0.138	0.54536	B	0.000186	0.48115	D	0.218873	0.999987	0.54805	D	2.135	0.59519	M	-1.65	0.83737	D	-4.47	0.78388	D	0.766	0.79214	0.171	0.85422	D	0.548	0.83407	D	10	0.6328803	0.68617	D	0.066926	0.70016	D	0.554	0.81601	0.416	0.45544	0.767328355039	0.76520	0.9728822579583015	0.97277	2.0305426451	0.94091	0.756400108337	0.75394	T	0.434559	0.78160	T	0.131495	0.67506	D	-0.0488934	0.67098	D	0.986545503139496	0.77236	D	0.927207	0.73169	D	0.4496781	0.64020	0.3526759	0.60841	0.4496781	0.64021	0.3526759	0.60840	-9.806	0.74846	D	.	.	0.451	0.62246	A	.;.;.;.;.;.	.;.;.;.;.;.	5.089181	0.84970	28.5	0.977327532623396	0.35628	0.98388	0.82268	D	AEFDBHCI	0.954424	0.97151	D	0.316318154352101	0.56987	3.864403	0.376191892726831	0.60101	4.194	1.0	0.98316	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	7.744000	0.83944	8.399000	0.77102	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	193.58	64	chr10	125003460	.	G	T	193.58	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.866;DP=238;ExcessHet=1.383;FS=2.229;MLEAC=3;MLEAF=0.3;MQ=59.14;MQRankSum=-5.498;QD=1.54;ReadPosRankSum=0.21;SOR=0.975	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,3:32:39:0|1:125003425_G_C:39,0,1209:125003425	2	0	3	1
chr10	125003466	125003466	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C289A:p.P97T,CTBP2:NM_022802:exon2:c.C1705A:p.P569T,CTBP2:NM_001321013:exon3:c.C85A:p.P29T,CTBP2:NM_001083914:exon4:c.C85A:p.P29T,CTBP2:NM_001290214:exon4:c.C85A:p.P29T,CTBP2:NM_001290215:exon4:c.C85A:p.P29T,CTBP2:NM_001321012:exon4:c.C85A:p.P29T,CTBP2:NM_001321014:exon4:c.C85A:p.P29T,CTBP2:NM_001329:exon4:c.C85A:p.P29T	.	410	877	234	1	0	236	0.118593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.847	0.176108028638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.025	0.64786	D	0.948	0.61912	P	0.514	0.56676	P	0.000117	0.50451	D	0.214717	1	0.81001	D	2.215	0.62545	M	-2.13	0.86349	D	-6.05	0.89796	D	0.689	0.82559	0.518	0.90792	D	0.688	0.89243	D	10	0.8365156	0.82808	D	0.176108	0.85198	D	0.847	0.95249	0.689	0.82653	0.928801495259	0.92807	0.9831479306831125	0.98306	2.09264733632	0.94735	0.676425933838	0.63756	T	0.542494	0.84360	D	0.336779	0.85619	D	0.245983	0.85429	D	0.99172455072403	0.82061	D	0.955104	0.83186	D	0.7142099	0.78840	0.5802387	0.75671	0.7142099	0.78841	0.5802387	0.75672	-5.592	0.70616	T	.	.	0.756	0.75321	P	.;.;.;.;.;.	.;.;.;.;.;.	5.016100	0.83334	28.0	0.99771334295315606	0.85918	0.97924	0.78163	D	AEFDBHCI	0.917308	0.88472	D	0.627757786435649	0.74937	6.218313	0.643900769394684	0.78156	6.820169	0.999999999980549	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	9.883000	0.98528	11.568000	0.93268	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	185.02	65	chr10	125003466	.	G	T	185.02	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.714;DP=234;ExcessHet=1.383;FS=2.453;MLEAC=3;MLEAF=0.25;MQ=58.97;MQRankSum=-5.388;QD=1.45;ReadPosRankSum=-0.064;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,3:33:36:0|1:125003425_G_C:36,0,1251:125003425	3	0	3	0
chr10	125003468	125003468	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.G287T:p.G96V,CTBP2:NM_022802:exon2:c.G1703T:p.G568V,CTBP2:NM_001321013:exon3:c.G83T:p.G28V,CTBP2:NM_001083914:exon4:c.G83T:p.G28V,CTBP2:NM_001290214:exon4:c.G83T:p.G28V,CTBP2:NM_001290215:exon4:c.G83T:p.G28V,CTBP2:NM_001321012:exon4:c.G83T:p.G28V,CTBP2:NM_001321014:exon4:c.G83T:p.G28V,CTBP2:NM_001329:exon4:c.G83T:p.G28V	.	413	879	229	1	0	231	0.116139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.808	0.205810925829	7.9e-05	.	9.126e-06	0	0	0	0	1.654e-05	0	0	6.5e-06	1	154602	rs368195398	7.039e-07	2.052e-06	0	1.418e-06	1.229e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.229e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	4.831e-05	2.19e-06	8.2e-07	8.01e-06	3e-06	4.831e-05	0	0	0	0	0	0	0	0	0	0.002	0.91255	D	0.003	0.83351	D	0.758	0.56768	P	0.345	0.52270	B	0.000015	0.62929	D	0.153474	1	0.81001	D	2.215	0.62545	M	-2.07	0.87116	D	-6.7	0.93786	D	0.885	0.91162	0.404	0.89161	D	0.665	0.88381	D	10	0.9020648	0.89569	D	0.205811	0.87005	D	0.808	0.93777	.	.	0.940972417782	0.94036	0.9830957384624965	0.98301	0.580823813372	0.53909	0.771838724613	0.77700	T	0.670241	0.90204	D	0.414705	0.90739	D	0.357919	0.90623	D	0.97039270401001	0.68933	D	0.830817	0.50504	T	0.82183003	0.85343	0.73988026	0.84624	0.82183003	0.85344	0.73988026	0.84625	-14.257	0.93861	D	.	.	0.903	0.82932	P	.;.;.;.;.;.	.;.;.;.;.;.	5.052849	0.84171	28.2	0.99572167466560413	0.72440	0.94853	0.62557	D	AEFDBHCI	0.865967	0.78524	D	0.502445831928042	0.67234	5.054572	0.519224250986091	0.69285	5.338541	0.999999999980549	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	4.865000	0.62695	5.821000	0.50083	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	191.02	64	chr10	125003468	.	C	A	191.02	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.988;DP=236;ExcessHet=1.383;FS=1.049;MLEAC=3;MLEAF=0.25;MQ=59.14;MQRankSum=-5.588;QD=1.52;ReadPosRankSum=-0.2;SOR=0.908	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,3:33:36:0|1:125003425_G_C:36,0,1251:125003425	3	0	3	0
chr10	125003470	125003470	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C285A:p.N95K,CTBP2:NM_022802:exon2:c.C1701A:p.N567K,CTBP2:NM_001321013:exon3:c.C81A:p.N27K,CTBP2:NM_001083914:exon4:c.C81A:p.N27K,CTBP2:NM_001290214:exon4:c.C81A:p.N27K,CTBP2:NM_001290215:exon4:c.C81A:p.N27K,CTBP2:NM_001321012:exon4:c.C81A:p.N27K,CTBP2:NM_001321014:exon4:c.C81A:p.N27K,CTBP2:NM_001329:exon4:c.C81A:p.N27K	.	414	877	230	1	0	232	0.116818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.443	0.196846434944	.	.	.	.	.	.	.	.	.	.	.	.	.	rs797010536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.53172	T	0.133	0.38160	T	0.024	0.52359	B	0.023	0.49136	B	0.000107	0.50451	N	0.228572	0.999907	0.50806	D	0.84	0.21119	L	-1.74	0.85173	D	-4.45	0.77717	D	0.707	0.80572	-0.1451	0.79039	T	0.509	0.81527	D	10	0.6498769	0.69541	D	0.196846	0.86503	D	0.443	0.74588	0.388	0.40951	0.817883718107	0.81616	0.9725668737270228	0.97245	0.555298206099	0.52229	0.665825009346	0.62241	T	0.506962	0.82492	D	0.0861848	0.62758	D	-0.113978	0.62294	T	0.98187917470932	0.74162	D	0.883312	0.60567	D	0.2881824	0.51823	0.250968	0.50698	0.2881824	0.51823	0.250968	0.50697	-15.247	0.96521	D	.	.	0.973	0.89808	P	.;.;.;.;.;.	.;.;.;.;.;.	4.647796	0.74053	26.1	0.9874692024541335	0.45587	0.88075	0.47847	D	AEFDBHCI	0.574998	0.57756	D	-0.046368544377228	0.39764	2.350313	0.00799731341758868	0.40086	2.38672	0.999998763134182	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	2.83	0.32150	1.613000	0.36512	7.263000	0.57966	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1598:0.0:0.6829:0.1573	5.756	0.17440	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	196.58	64	chr10	125003470	.	G	T	196.58	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.418;DP=235;ExcessHet=1.383;FS=1.042;MLEAC=3;MLEAF=0.3;MQ=59.14;MQRankSum=-5.498;QD=1.57;ReadPosRankSum=-0.496;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,3:32:39:0|1:125003425_G_C:39,0,1209:125003425	2	0	3	1
chr10	125039033	125039033	T	A	exonic	CTBP2	.	stopgain	CTBP2:NM_001321013:exon2:c.A22T:p.K8X,CTBP2:NM_001083914:exon3:c.A22T:p.K8X,CTBP2:NM_001290214:exon3:c.A22T:p.K8X,CTBP2:NM_001290215:exon3:c.A22T:p.K8X,CTBP2:NM_001321012:exon3:c.A22T:p.K8X,CTBP2:NM_001321014:exon3:c.A22T:p.K8X,CTBP2:NM_001329:exon3:c.A22T:p.K8X	.	432	1023	67	0	0	67	0.0317085	.	.	.	1330655	not_specified|Pulmonary_artery_atresia	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001537	4	26028	rs76555439	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.903	0.90363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47795	0.93627	D	0.448766	0.93547	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	9.829600	0.99355	43	0.99586803091769216	0.73336	0.87743	0.47386	D	AEFGBHCI	0.077324	0.15576	N	0.854919915911592	0.89387	9.950527	0.733718632913773	0.84935	8.434	0.999999999999905	0.74766	0.645754	0.44609	0	0.627178	0.54094	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.743000	0.68032	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1667	282.06	34	chr10	125039033	.	T	A	282.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.369;DP=377;ExcessHet=0.4139;FS=4.397;MLEAC=2;MLEAF=0.167;MQ=58.33;MQRankSum=-10.08;QD=1.24;ReadPosRankSum=1.5;SOR=0.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,8:103:50:0|1:125039033_T_A:50,0,3961:125039033	4	0	2	0
chr10	125039035	125039035	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001321013:exon2:c.A20G:p.H7R,CTBP2:NM_001083914:exon3:c.A20G:p.H7R,CTBP2:NM_001290214:exon3:c.A20G:p.H7R,CTBP2:NM_001290215:exon3:c.A20G:p.H7R,CTBP2:NM_001321012:exon3:c.A20G:p.H7R,CTBP2:NM_001321014:exon3:c.A20G:p.H7R,CTBP2:NM_001329:exon3:c.A20G:p.H7R	.	434	1022	66	0	0	66	0.0312796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.0169483827955	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001921	5	26028	rs78849795	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.15509	T	0.911	0.02952	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.976171	0.25390	N	1.155	0.29575	L	-1.53	0.81559	D	-0.28	0.11547	N	0.556	0.58117	-0.7162	0.59649	T	0.384	0.73988	T	9	0.2395181	0.41094	T	0.016948	0.38442	T	0.314	0.63588	0.302	0.27003	0.989459454501	0.98934	.	.	.	.	.	.	.	0.157543	0.50018	T	0.164577	0.70624	D	-0.00137324	0.70247	D	0.378074373079758	0.28108	T	0.886111	0.61235	D	0.15569115	0.35175	0.15271002	0.35916	0.15569115	0.35174	0.15271002	0.35915	-2.736	0.07610	T	.	.	0.160	0.48978	B	.;.;.;.	.;.;.;.	3.581586	0.50496	23.0	0.96844956273467708	0.31320	0.86671	0.46001	D	AEFGBHCI	0.757168	0.69621	D	-0.0152146198236119	0.41167	2.457583	0.165997750048251	0.47996	3.021633	0.999999999999905	0.74766	0.645754	0.44609	0	0.60822	0.50512	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.749000	0.68113	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	282.06	34	chr10	125039035	.	T	C	282.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.356;DP=372;ExcessHet=0.4139;FS=4.397;MLEAC=2;MLEAF=0.167;MQ=58.3;MQRankSum=-10.08;QD=1.24;ReadPosRankSum=1.57;SOR=0.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,8:103:50:0|1:125039033_T_A:50,0,3961:125039033	4	0	2	0
chr10	126504772	126504772	G	A	exonic	C10orf90	.	nonsynonymous SNV	C10orf90:NM_001004298:exon3:c.C428T:p.T143M,C10orf90:NM_001350921:exon4:c.C719T:p.T240M,C10orf90:NM_001350922:exon4:c.C719T:p.T240M,C10orf90:NM_001350923:exon4:c.C719T:p.T240M	.	428	1085	9	0	0	9	0.00413034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.0266579189022	0.0016	0.00159744	0.0030	0.0006	0.0011	0	0.0029	0.0031	0	0.0084	0.0026132	404	154602	rs144072115	0.0020	0.0020	0.0018	0.0022	0.0068	0.0019	0.0019	0.0063	0.0061	0.0003	0.0009	0.0165	0	0.0027	0.0048	0.0014	0.0022	0.0068	0.0017	0.0017	0.0015	0.0019	0.0081	0.0016	0.0015	0.0061	0.0054	0.0002	0	0.0007	0.0161	0	0.0016	0.0068	0.0019	0.0009	0.0081	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000024	0.55875	D	0.000000	0.997952	0.44899	D	2.14	0.59869	M	1.01	0.41058	T	-2.07	0.47344	N	0.904	0.90704	-0.4724	0.69641	T	0.297	0.66811	T	10	0.008338183	0.00189	T	0.026658	0.49548	D	0.308	0.62947	.	.	0.337378238328	0.33340	0.8006920385490915	0.80023	0.443981540537	0.44317	.	.	.	0.181446	0.56499	T	-0.0907442	0.37953	T	0.100183	0.76919	D	0.0248992615588746	0.01260	T	0.880112	0.63332	D	0.3205254	0.54685	0.36609587	0.61945	0.3205254	0.54685	0.36609587	0.61945	-5.148	0.38408	T	.	.	0.375	0.65015	A	.;.;.;.	.;.;.;.	4.741981	0.76480	26.5	0.99921796245930383	0.98787	0.93111	0.57356	D	AEFBCI	0.597289	0.59113	D	0.751882106050055	0.83026	7.910889	0.718453721140968	0.83782	8.112535	0.999995620992818	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	5.1	5.1	0.68917	6.092000	0.71061	11.474000	0.92868	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.917000	0.45243	0.0:0.0:1.0:0.0	17.721	0.88258	609	0.67094	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.007576	0.08333	1263.83	35	chr10	126504772	.	G	A	1263.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.13;DP=367;ExcessHet=0;FS=1.679;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=-0.897;SOR=0.616	GT:AD:DP:GQ:PL	0/1:43,47:90:99:1274,0,967	5	0	1	0
chr10	132810425	132810425	G	A	exonic	CFAP46	.	stopgain	CFAP46:NM_001200049:exon57:c.C7648T:p.R2550X	.	417	1101	4	0	0	4	0.00181324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.00119808	0.0015	9.699e-05	0.0002	0	0	0.0005	0	0.0084	0.0013001	201	154602	rs138871633	0.0008	0.0008	0.0005	0.0010	0.0073	0.0007	0.0007	0.0068	0.0067	0	0.0005	0.0005	7.557e-05	1.895e-05	0.0014	0.0003	0.0010	0.0073	0.0005	0.0005	0.0004	0.0006	0.0081	0.0004	0.0004	0.0061	0.0054	4.814e-05	0	0.0005	0.0012	0	0	0	0.0003	0.0009	0.0081	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.00162	N	35.238800	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.039	0.01274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.214732	0.18718	T	-0.0762375	0.65178	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.002226	0.83007	27.9	0.79635719928766646	0.12831	0.00028	0.00265	N	AEFDBI	0.013699	0.00191	N	-1.24958523173234	0.04305	0.1940443	-1.68978158895145	0.01183	0.0532433	0.67203215814215	0.22385	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	2.98	-5.95	0.02054	-3.405000	0.00535	-8.047000	0.01038	-2.601000	0.00235	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1418:0.2191:0.4209:0.2181	3.015	0.05691	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001554	0.000000	0.002717	0.003497	0.050000	0.000000	0.003049	0.003788	0.08333	790.83	35	chr10	132810425	.	G	A	790.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.428;DP=229;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=0.635;SOR=0.593	GT:AD:DP:GQ:PL	0/1:25,32:57:99:801,0,558	5	0	1	0
chr10	132885876	132885876	C	T	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon26:c.G3388A:p.G1130S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0971323400898	.	0.000199681	0	0	0	0	0	0	0	0	0.0001153	3	26028	rs531957997	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	3.165e-05	0	3.973e-05	2.799e-05	0	0	0.0002	8.625e-05	1.262e-05	0.0001	0.0001	7.72e-05	0.0001	0.0003	7.096e-05	5.752e-05	8.89e-05	5.395e-05	7.224e-05	0	0.0003	0	0	9.45e-05	0	0.0001	0	0	0.017	0.51248	D	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	0.991751	0.23988	N	.	.	.	1.98	0.21865	T	-3.62	0.69593	D	0.555	0.58031	-0.7819	0.56195	T	0.261	0.63230	T	6	0.28736466	0.46319	T	0.097132	0.76721	D	0.205	0.49236	.	.	0.143124449307	0.13826	0.42197720216261425	0.42114	0.497348580915	0.48234	0.579990983009	0.50085	T	0.099331	0.40404	T	-0.259304	0.12982	T	-0.350569	0.39139	T	0.703113675117493	0.40867	D	0.755224	0.37818	T	0.30418473	0.53277	0.3765222	0.62773	0.30418473	0.53277	0.3765222	0.62772	-8.853	0.66746	D	.	.	0.238	0.47172	B	.	.	4.292669	0.65474	24.8	0.99142973098632292	0.53600	0.93452	0.58255	D	AEFDBHCI	0.181256	0.30857	N	-0.145432658309933	0.35428	2.034892	-0.212933996093221	0.31070	1.755027	0.00100663893503841	0.08115	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.52	2.6	0.30173	2.699000	0.46744	5.583000	0.48975	0.547000	0.25779	0.970000	0.34288	1.000000	0.68203	0.721000	0.34804	0.187:0.813:0.0:0.0	11.064	0.47182	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	712.83	39	chr10	132885876	.	C	T	712.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.682;DP=269;ExcessHet=0;FS=0.872;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=1.02;SOR=0.781	GT:AD:DP:GQ:PL	0/1:45,32:77:99:723,0,1037	5	0	1	0
chr11	988579	988579	C	T	exonic	AP2A2	.	nonsynonymous SNV	AP2A2:NM_001242837:exon10:c.C1162T:p.R388W,AP2A2:NM_012305:exon10:c.C1159T:p.R387W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.457	0.0800859540071	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1453495639	4.109e-06	7.524e-06	5.452e-06	2.753e-06	5.397e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.397e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.99	0.86255	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	3.345	0.91022	M	1.62	0.28189	T	-7.08	0.93927	D	0.923	0.92667	-0.4842	0.69216	T	0.243	0.61119	T	10	0.9144197	0.90804	D	0.080086	0.73382	D	0.457	0.75551	0.75	0.88071	0.681666823449	0.67895	0.751102020147409	0.75057	1.86602819709	0.92454	0.864951431751	0.91838	D	0.575274	0.86003	D	0.209005	0.74738	D	0.0624454	0.74408	D	0.997245788574219	0.91101	D	0.996959	0.98828	D	0.83249444	0.86077	0.7107474	0.82937	0.83249444	0.86078	0.7107474	0.82938	-16.867	0.98896	D	.	.	0.988	0.93009	P	.;.	.;.	5.363772	0.89943	31	0.9991168041546904	0.98095	0.89223	0.49559	D	AEFDBCI	0.698280	0.65600	D	0.536907855296206	0.69288	5.335795	0.393403246838425	0.61157	4.312037	0.462293798121734	0.20634	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.93	2.99	0.33673	0.902000	0.28088	3.319000	0.37529	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.4992:0.5008:0.0:0.0	11.067	0.47201	862	0.33134	.;Clathrin/coatomer adaptor, adaptin-like, 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	.	.	.	.	.	.	.	.	0.08333	947.83	38	chr11	988579	.	C	T	947.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.968;DP=256;ExcessHet=0;FS=4.75;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=0.057;SOR=0.307	GT:AD:DP:GQ:PL	0/1:36,40:76:99:958,0,997	5	0	1	0
chr11	1018290	1018290	G	A	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4511T:p.P1504L	.	414	746	107	2	253	364	0.0692452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00130114034182	.	.	0.0003	0.0006	0.0002	0.0001	0.0005	0.0003	0.0011	0	1.94e-05	3	154602	rs776891354	1.107e-05	3.01e-05	1.651e-05	5.562e-06	2.261e-05	6.55e-06	5.3e-06	8.17e-06	6.48e-06	0	2.261e-05	0	0	0	0	1.361e-05	0	0	0.0001	0.0098	0.0001	9.374e-05	0.0007	5.246e-05	3.934e-05	0.0001	5.226e-05	0.0001	0	0	0	0.0007	0	0	9.554e-05	0	0	0.087	0.32453	T	0.452	0.12884	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	2.32	0.16640	T	-0.07	0.08033	N	0.067	0.03956	-1.0134	0.25848	T	0.014	0.05465	T	9	0.022066832	0.00542	T	0.001301	0.01809	T	0.004	0.00165	.	.	0.141422826196	0.13715	0.17699347360380507	0.17618	0.090681263109	0.10232	0.182567775249	0.00120	T	0.011815	0.10487	T	-0.418061	0.01760	T	-0.838292	0.01125	T	0.0714186060218739	0.08849	T	.	.	.	0.023426026	0.01081	0.02954413	0.01305	0.023426026	0.01081	0.02954413	0.01304	-3.396	0.15003	T	.	.	0.071	0.04041	B	.	.	-1.051810	0.00700	0.020	0.59025517677381145	0.06128	0.00427	0.02100	N	AEFDGBI	0.028602	0.02550	N	-2.28884873487817	0.00048	0.002069904	-2.37477325509698	0.00045	0.001973028	0.999941380871367	0.47345	0.69289	0.55638	0	0.550933	0.16991	0	0.517114	0.09559	2	0.508809	0.08732	0	.	.	2.41	-4.82	0.02938	-5.543000	0.00137	-20.000000	0.00162	-5.324000	0.00012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3114:0.1979:0.3276:0.1631	0.642	0.00759	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	1655.92	269	chr11	1018290	.	G	A	1655.92	.	AC=3;AF=0.25;AN=12;BaseQRankSum=3.99;DP=909;ExcessHet=6.1542;FS=19.265;MLEAC=3;MLEAF=0.25;MQ=55.23;MQRankSum=-5.755;QD=2.02;ReadPosRankSum=0.586;SOR=1.852	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,13:118:99:0|1:1018256_T_G:230,0,4370:1018256	3	0	3	0
chr11	1096143	1096212	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	508	767	11	0	236	247	0.00711974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3427.23	381	chr11	1096143	.	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*	3427.23	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.37;DP=3138;ExcessHet=1.383;FS=3.222;MLEAC=2;MLEAF=0.167;MQ=54.83;MQRankSum=-3.156;QD=3.28;ReadPosRankSum=0.519;SOR=0.914	GT:AD:DP:GQ:PL	0/1:111,89:241:99:2094,0,16192	4	0	2	0
chr11	1097434	1097434	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	709	787	15	0	11	26	0.0094399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0049	0	0	0	0	0	0	4.53e-05	7	154602	rs1324794777	0.0039	0.0035	0.0042	0.0037	0.0047	0.0037	0.0037	0.0044	0.0043	0.0047	0.0026	0.0041	0.0019	0.0034	0.0031	0.0047	0.0045	0.0012	0.0045	0.0056	0.0046	0.0044	0.0055	0.0040	0.0039	0.0047	0.0044	0.0030	0.0041	0.0046	0.0015	0.0055	0.0046	0	0.0055	0.0088	0.0040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.133534	0.168421	0.108696	0.100000	0.071429	0.040000	0.158654	0.148438	0.25	107.25	105	chr11	1097434	.	C	T	107.25	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-2.731;DP=762;ExcessHet=0;FS=9.501;MLEAC=2;MLEAF=0.5;MQ=39.09;MQRankSum=-1.349;QD=1.04;ReadPosRankSum=3.79;SOR=0.811	GT:AD:DP:GQ:PL	0/1:86,17:103:99:113,0,2167	1	0	1	4
chr11	1097584	1097584	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	640	870	3	3	6	15	0.0051458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1409182406	0.0007	0.0023	0.0006	0.0007	0.0014	0.0006	0.0006	0.0010	0.0009	0.0014	0.0009	0.0007	0.0011	0.0021	0.0003	0.0006	0.0007	0.0009	0.0004	0.0014	0.0002	0.0005	0.0016	0.0002	0.0001	0.0001	6.105e-05	0.0004	0	0.0004	0.0015	0	0.0008	0	0.0002	0	0.0016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	111.55	95	chr11	1097584	.	C	T	111.55	.	AC=1;AF=0.167;AN=6;BaseQRankSum=2.79;DP=625;ExcessHet=0;FS=0.932;MLEAC=1;MLEAF=0.167;MQ=52.92;MQRankSum=-3.632;QD=0.71;ReadPosRankSum=2.24;SOR=0.808	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:143,14:157:99:.:.:118,0,4594:.	2	0	1	3
chr11	1097805	1097805	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	683	827	12	0	0	12	0.00720288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.083e-05	0.0006	4.152e-05	2.074e-05	9.699e-05	2.144e-05	1.822e-05	2.385e-05	1.288e-05	9.699e-05	9e-05	9.62e-05	6.337e-05	0	0	2.691e-05	0	1.488e-05	4.208e-05	0.0002	4.311e-05	4.11e-05	0.0002	6.98e-06	2.61e-06	3.316e-05	1.363e-05	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	117.73	63	chr11	1097805	.	C	A	117.73	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-2.531;DP=469;ExcessHet=0.4139;FS=8.798;MLEAC=2;MLEAF=0.2;MQ=33.9;MQRankSum=1.02;QD=0.88;ReadPosRankSum=-0.372;SOR=2.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,6:53:99:0|1:1097750_G_A:113,0,1209:1097750	3	0	2	1
chr11	1250829	1250829	G	C	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.G13949C:p.R4650T	.	412	1091	19	0	0	19	0.00863244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0022	0.00998403	0.0078	0.0013	0.0019	0.0008	0.0003	0.0046	0.0076	0.0333	0.0063453	981	154602	rs199704716	0.0072	0.0081	0.0063	0.0081	0.0330	0.0071	0.0070	0.0319	0.0315	0.0013	0.0025	0.0089	0.0013	0.0011	0.0084	0.0059	0.0083	0.0330	0.0050	0.0050	0.0047	0.0052	0.0340	0.0047	0.0045	0.0297	0.0281	0.0018	0.0011	0.0038	0.0084	0.0014	0.0007	0.0071	0.0059	0.0044	0.0340	0.431	0.09514	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-2.175	0.00131	N	2.35	0.16217	T	0.04	0.06488	N	0.026	0.00527	-0.9827	0.34375	T	0.015	0.06042	T	8	0.0036625862	0.00067	T	.	.	.	0.011	0.01250	.	.	0.043077524339	0.03247	0.2217473112674907	0.22089	.	.	0.260108709335	0.04903	T	0.015076	0.12713	T	-0.76032	0.00015	T	-0.841238	0.01080	T	0.00187877007298295	0.00019	T	0.210079	0.02530	T	0.060935345	0.12560	0.072975256	0.15807	0.060935345	0.12560	0.072975256	0.15806	0.131	0.00306	T	.	.	0.045	0.00051	B	.	.	-0.635716	0.01477	0.091	0.487978647465171	0.04102	0.00039	0.00329	N	AEFBI	.	.	.	-1.63730307468543	0.01090	0.04729457	-1.6896799995214	0.01183	0.05326659	9.02248078799318E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	0.418	0.418	0.15647	-1.258000	0.02973	-2.843000	0.03305	-1.908000	0.00517	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008529	0.000000	0.001362	0.008403	0.000000	0.008621	0.018405	0.022727	0.08333	2673.83	156	chr11	1250829	.	G	C	2673.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.429;DP=1202;ExcessHet=0;FS=3.109;MLEAC=1;MLEAF=0.083;MQ=53.26;MQRankSum=-1.7;QD=12.67;ReadPosRankSum=-0.744;SOR=0.495	GT:AD:DP:GQ:PL	0/1:113,98:211:99:2684,0,3234	5	0	1	0
chr11	1584727	1584727	-	CTTGGAGCCCCCACAAGAACCGCAGCCCCCCTTGCAGCCTCCACAGGAGCCACAGCCCCT	exonic	KRTAP5-1	.	nonframeshift insertion	KRTAP5-1:NM_001005922:exon1:c.522_523insAGGGGCTGTGGCTCCTGTGGAGGCTGCAAGGGGGGCTGCGGTTCTTGTGGGGGCTCCAAG:p.K174_G175insRGCGSCGGCKGGCGSCGGSK	.	0	223	2	0	1	3	0.00446429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0.0004	0.0022	0	6.5e-06	1	154602	.	0.0031	0.0045	0.0030	0.0032	0.0036	0.0030	0.0030	0.0035	0.0034	0.0008	0.0015	0.0045	0	0.0019	0.0019	0.0036	0.0041	0.0003	0.0033	0.0055	0.0036	0.0030	0.0063	0.0031	0.0030	0.0058	0.0056	0.0005	0	0.0014	0.0042	0	0.0003	0.0077	0.0063	0.0021	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	702.79	90	chr11	1584727	.	C	CCTTGGAGCCCCCACAAGAACCGCAGCCCCCCTTGCAGCCTCCACAGGAGCCACAGCCCCT	702.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.579;DP=372;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.52;MQRankSum=-1.147;QD=14.95;ReadPosRankSum=-3.795;SOR=0.674	GT:AD:DP:GQ:PL	0/1:19,28:47:99:713,0,552	5	0	1	0
chr11	1747855	1747855	G	A	exonic	IFITM10	.	nonsynonymous SNV	IFITM10:NM_001170820:exon2:c.C349T:p.R117W	.	403	1063	53	3	0	59	0.0270023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	.	0.0059	0.00479233	0.0135	0.0010	0.0091	0	0.0013	0.0118	0.0060	0.0327	0.0031759	491	154602	rs190833491	0.0086	0.0083	0.0082	0.0091	0.0270	0.0085	0.0084	0.0235	0.0222	0.0016	0.0058	0.0158	0	0.0026	0.0270	0.0085	0.0095	0.0180	0.0058	0.0058	0.0059	0.0056	0.0133	0.0055	0.0053	0.0106	0.0097	0.0015	0.0011	0.0059	0.0173	0.0002	0.0014	0.0340	0.0081	0.0119	0.0133	0.0	0.91255	D	0.001	0.83351	D	.	.	.	.	.	.	0.304973	0.14532	U	0.585427	0.949505	0.37655	D	0.895	0.22405	L	0.7	0.51474	T	-3.29	0.65742	D	0.496	0.52918	-0.8802	0.49746	T	0.099	0.37034	T	8	0.007443428	0.00169	T	.	.	.	0.113	0.31778	.	.	0.483670899158	0.47999	0.4080566555781379	0.40721	.	.	0.858771443367	0.90929	D	0.079636	0.36175	T	-0.403777	0.02186	T	-0.337838	0.40590	T	0.0390152272993604	0.03513	T	0.90231	0.65919	D	0.23435475	0.46254	0.26971132	0.52854	0.23435475	0.46254	0.26971132	0.52853	-5.023	0.37089	T	.	.	0.217	0.57230	B	.;.;.	.;.;.	3.162821	0.42862	21.6	0.99864039732502885	0.94184	0.79864	0.39661	D	AEFDBHCIJ	0.464640	0.51305	N	-0.075401472781962	0.38473	2.25391	-0.103824497521162	0.35235	2.036153	0.999999223515479	0.74766	0.582742	0.33608	0	0.588066	0.40923	0	0.61531	0.40942	0	0.620976	0.48614	0	.	.	2.6	2.6	0.30173	2.462000	0.44706	4.026000	0.41295	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.094000	0.17991	0.0:0.0:0.7973:0.2027	10.006	0.41129	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025194	0.005155	0.004167	0.009709	0.166667	0.068182	0.051402	0.062500	0.08333	1460.83	35	chr11	1747855	.	G	A	1460.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.341;DP=287;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=-1.698;SOR=0.709	GT:AD:DP:GQ:PL	0/1:50,58:108:99:1471,0,1271	5	0	1	0
chr11	2414720	2414720	G	T	exonic	TRPM5	.	nonsynonymous SNV	TRPM5:NM_014555:exon11:c.C1739A:p.A580D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.898	0.679138568176	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs763875217	2.885e-06	1.231e-05	1.421e-06	4.393e-06	0.0002	6.8e-07	4.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0.0002	1.862e-06	0	1.268e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.997	0.90584	D	0.975	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.49	0.92661	M	-1.52	0.81478	D	-4.87	0.82830	D	0.917	0.93723	0.562	0.91396	D	0.694	0.89459	D	10	0.9006227	0.89423	D	0.679139	0.97338	D	0.898	0.97135	0.631	0.76699	0.758235402042	0.75604	0.949848316186697	0.94967	0.580066473438	0.53860	0.66815674305	0.62575	T	0.863503	0.96991	D	0.470397	0.93353	D	0.437916	0.93269	D	0.996436476707458	0.89338	D	0.851715	0.54093	D	0.92740107	0.93977	0.94789326	0.98271	0.92740107	0.93977	0.94789326	0.98271	-16.887	0.98813	D	.	.	0.972	0.90222	P	.;.;.;.	.;.;.;.	4.727684	0.76118	26.5	0.99623614881588618	0.75594	0.99268	0.93707	D	AEFBI	0.936482	0.93287	D	0.691019904776548	0.79043	6.995341	0.55936712716563	0.72053	5.749357	0.99995830115098	0.48110	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.83	3.83	0.43287	8.502000	0.90336	8.321000	0.76963	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.747000	0.35681	0.0:0.0:1.0:0.0	13.391	0.60268	988	0.01987	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1078.83	44	chr11	2414720	.	G	T	1078.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.63;DP=233;ExcessHet=0;FS=6.407;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=21.58;ReadPosRankSum=0.957;SOR=0.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,28:50:99:0|1:2414680_G_GC:1089,0,835:2414680	5	0	1	0
chr11	2415181	2415181	G	T	exonic	TRPM5	.	nonsynonymous SNV	TRPM5:NM_014555:exon9:c.C1419A:p.F473L	.	409	1105	8	0	0	8	0.00360685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.260	0.0933959245341	0.0006	0.000998403	0.0019	0	0.0007	0	0.0025	0.0029	0	0.0013	0.0007115	110	154602	rs201638929	0.0006	0.0006	0.0006	0.0006	0.0014	0.0006	0.0006	0.0009	0.0008	6.077e-05	0.0002	0.0120	0	0.0006	0.0014	0.0003	0.0010	0.0011	0.0006	0.0006	0.0005	0.0006	0.0004	0.0005	0.0004	0.0003	0.0002	7.217e-05	0	0.0002	0.0121	0	0.0007	0	0.0004	0.0014	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.01	0.15535	B	0.013	0.17295	B	0.000000	0.84330	D	0.000000	0.995102	0.42546	D	0.69	0.16971	N	0.13	0.60973	T	0.6	0.02518	N	0.55	0.57604	-1.0278	0.21168	T	0.075	0.30117	T	10	0.009403288	0.00212	T	0.093396	0.76066	D	0.260	0.57221	0.394	0.41935	0.0551355673512	0.04727	0.45379199618112687	0.45297	0.357763952978	0.37491	0.926101922989	0.98752	D	0.118111	0.43868	T	-0.323625	0.06605	T	-0.295416	0.45207	T	0.027641850480558	0.01636	T	0.783522	0.42019	T	0.15281197	0.34670	0.1548644	0.36328	0.15281197	0.34669	0.1548644	0.36327	-7.611	0.58387	D	.	.	0.813	0.77883	P	.;.;.;.	.;.;.;.	1.937284	0.24609	16.46	0.97010533188149317	0.31981	0.91660	0.53993	D	AEFDBI	0.600262	0.59296	D	-0.582383874635545	0.19479	1.019851	-0.431075272461032	0.24090	1.317294	0.0166256165440514	0.12853	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	3.21	3.21	0.35933	1.762000	0.38080	1.709000	0.28183	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.819000	0.38590	0.1395:0.2412:0.6193:0.0	4.332	0.10507	988	0.01987	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001015	0.000000	0.000000	0.000000	0.000000	0.000000	0.006211	0.000000	0.08333	448.83	44	chr11	2415181	.	G	T	448.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.681;DP=232;ExcessHet=0;FS=1.159;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=0.532;SOR=0.472	GT:AD:DP:GQ:PL	0/1:26,20:46:99:459,0,723	5	0	1	0
chr11	3038130	3038130	C	A	exonic	CARS1	.	nonsynonymous SNV	CARS1:NM_001378140:exon4:c.G196T:p.A66S,CARS1:NM_001378137:exon6:c.G442T:p.A148S,CARS1:NM_001378138:exon6:c.G442T:p.A148S,CARS1:NM_001751:exon6:c.G472T:p.A158S,CARS1:NM_139273:exon6:c.G472T:p.A158S,CARS1:NM_001014437:exon7:c.G721T:p.A241S,CARS1:NM_001194997:exon7:c.G721T:p.A241S,CARS1:NM_001378136:exon7:c.G511T:p.A171S,CARS1:NM_001378139:exon7:c.G442T:p.A148S	.	434	1016	66	6	0	78	0.0369668	.	.	.	701727	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.068	.	0.0078	0.00738818	0.0099	0.0014	0.0065	0.0001	0.0030	0.0104	0.0187	0.0228	0.0095212	1472	154602	rs12796489	0.0100	0.0100	0.0094	0.0106	0.0394	0.0099	0.0098	0.0352	0.0335	0.0017	0.0067	0.0121	7.557e-05	0.0040	0.0394	0.0097	0.0110	0.0239	0.0076	0.0076	0.0076	0.0076	0.0232	0.0072	0.0071	0.0197	0.0184	0.0017	0	0.0102	0.0110	0	0.0033	0.0408	0.0105	0.0099	0.0232	0.643	0.04957	T	0.52	0.10465	T	0.003	0.12996	B	0.015	0.20792	B	0.001760	0.38106	N	0.256618	1	0.08975	N	0.325	0.10370	N	0.94	0.43672	T	0.24	0.04533	N	0.146	0.15609	-1.0238	0.22476	T	0.042	0.18035	T	10	0.0089785755	0.00203	T	.	.	.	0.068	0.19811	.	.	0.268211541103	0.26431	0.41422578982597624	0.41338	0.231550034422	0.25707	0.272399067879	0.06456	T	0.065227	0.32635	T	-0.664305	0.00059	T	-0.709419	0.05325	T	0.000694211314457137	0.00006	T	.	.	.	0.05427984	0.10392	0.04404145	0.05617	0.05427984	0.10391	0.04404145	0.05616	-4.286	0.27980	T	.	.	0.080	0.09530	B	.;.;.;.	.;.;.;.	-0.223372	0.02973	0.443	0.88549503278566	0.18065	0.25720	0.22782	N	AEFGBCI	0.105898	0.21146	N	-1.04813854451331	0.07624	0.354797	-1.07389750514943	0.08216	0.4030183	0.999994626051788	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.86	1.89	0.24700	0.330000	0.19460	-0.382000	0.09534	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.1906:0.7114:0.0:0.098	6.191	0.19738	884	0.28482	.;tRNA synthetases class I, catalytic domain|tRNA synthetases class I, catalytic domain;.;tRNA synthetases class I, catalytic domain|tRNA synthetases class I, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.024673	0.020202	0.021739	0.023392	0.000000	0.025862	0.024390	0.037879	0.1667	3015.06	40	chr11	3038130	.	C	A	3015.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.08;DP=402;ExcessHet=0.4139;FS=7.945;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=0.279;SOR=1.146	GT:AD:DP:GQ:PL	0/1:63,71:134:99:1759,0,1369	4	0	2	0
chr11	4923931	4923931	C	T	exonic	OR51G1	.	nonsynonymous SNV	OR51G1:NM_001005237:exon1:c.G409A:p.V137I	.	415	1090	17	0	0	17	0.00773782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0032	0.00379393	0.0027	0.0081	0.0016	0.0002	0	0.0002	0.0066	0.0122	0.0023997	371	154602	rs145607331	0.0011	0.0011	0.0008	0.0015	0.0119	0.0011	0.0011	0.0113	0.0111	0.0072	0.0015	0.0004	5.039e-05	0	0.0036	0.0002	0.0021	0.0119	0.0033	0.0033	0.0033	0.0033	0.0119	0.0031	0.0030	0.0094	0.0085	0.0093	0	0.0026	0	0	0	0	0.0002	0.0024	0.0119	.	.	.	.	.	.	0.002	0.09854	B	0.001	0.04355	B	0.200551	0.16611	N	0.437363	0.970807	0.25685	N	-1.29	0.00724	N	.	.	.	.	.	.	.	.	-1.0038	0.28814	T	0.006	0.01907	T	10	0.011270016	0.00247	T	.	.	.	.	.	.	.	.	.	0.12785814721803207	0.12710	.	.	0.21312341094	0.00951	T	2.86E-4	0.00069	T	-0.787337	0.00010	T	-0.893344	0.00550	T	0.00573077374390745	0.00063	T	0.354964	0.08031	T	0.01774362	0.00299	0.03550361	0.02815	0.01774362	0.00299	0.03550361	0.02815	-1.032	0.01035	T	.	.	0.069	0.03128	B	.	.	-1.391376	0.00366	0.007	0.53104431938590912	0.04875	0.01281	0.04472	N	AEFGBI	0.037579	0.05190	N	-2.35276002061783	0.00035	0.001487029	-2.32492563772922	0.00058	0.002563659	0.352579824946261	0.19697	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.2	-8.41	0.00840	-2.223000	0.01297	.	.	-2.793000	0.00187	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1062:0.0998:0.794	12.105	0.53106	744	0.52588	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.000000	0.004076	0.005848	0.000000	0.000000	0.000000	0.026515	0.08333	1119.83	35	chr11	4923931	.	C	T	1119.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.06;DP=286;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-0.698;SOR=0.646	GT:AD:DP:GQ:PL	0/1:61,44:105:99:1130,0,1499	5	0	1	0
chr11	4955551	4955551	G	C	exonic	OR51A2	.	nonsynonymous SNV	OR51A2:NM_001004748:exon1:c.C163G:p.P55A	.	439	1082	1	0	0	1	0.000461894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00246608577841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.242e-07	1.381e-06	0	1.639e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.072	0.43344	T	0.02	0.18235	B	0.029	0.21540	B	.	.	.	.	0.999999	0.08975	N	2.08	0.57402	M	6.89	0.00474	T	-3.13	0.63901	D	0.06	0.03175	-1.0016	0.29459	T	0.001	0.00438	T	9	0.062737465	0.08068	T	0.002466	0.04868	T	0.012	0.01476	0.339	0.32979	0.273495378476	0.26946	0.08244105522149014	0.08179	1.110984217	0.78055	.	.	.	0.007809	0.07192	T	-0.347254	0.04901	T	-0.736583	0.04036	T	0.0794778487989844	0.09920	T	0.205679	0.02432	T	0.04267267	0.06513	0.081782036	0.18613	0.04267267	0.06513	0.081782036	0.18613	-6.108	0.47174	T	.	.	0.082	0.08609	B	.	.	-0.886793	0.00948	0.037	0.50262462885984094	0.04353	0.02234	0.06487	N	AEFGI	0.049583	0.08580	N	-1.58678191300739	0.01332	0.05801692	-1.75608373578911	0.00911	0.04073219	0.00443871364354785	0.10556	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.94	-5.89	0.02093	-2.204000	0.01317	.	.	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.122:0.1029:0.6181:0.1571	6.185	0.19708	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1361.83	115	chr11	4955551	.	G	C	1361.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.2;DP=586;ExcessHet=0;FS=3.127;MLEAC=1;MLEAF=0.083;MQ=48.87;MQRankSum=-0.107;QD=9.66;ReadPosRankSum=1.27;SOR=0.665	GT:AD:DP:GQ:PL	0/1:88,53:141:99:1372,0,2251	5	0	1	0
chr11	5070094	5070094	C	T	exonic	OR52E1	.	unknown	UNKNOWN	.	858	650	14	0	0	14	0.0106545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	0.0076	0	0.0142	0	0.0046	0.0084	0	0.0299	0.0012807	198	154602	rs570789731	0.0028	0.0016	0.0028	0.0029	0.0135	0.0027	0.0026	0.0087	0.0072	0.0001	0.0011	0.0261	0	0.0007	0.0135	0.0022	0.0036	0.0068	0.0020	0.0020	0.0020	0.0020	0.0083	0.0018	0.0017	0.0063	0.0056	0.0005	0	0.0009	0.0213	0	0.0006	0.0136	0.0020	0.0047	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1371.83	61	chr11	5070094	.	C	T	1371.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.706;DP=317;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=0.365;SOR=0.752	GT:AD:DP:GQ:PL	0/1:64,49:113:99:1382,0,1869	5	0	1	0
chr11	5178588	5178588	C	0	exonic	OR52Z1	.	.	.	.	442	140	439	496	5	1436	0.836353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	555.01	40	chr11	5178588	.	C	*	555.01	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-3.439;DP=240;ExcessHet=2.3007;FS=3.529;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.86;ReadPosRankSum=-1.301;SOR=0.425	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1421,114,0	2	1	3	0
chr11	5788425	5788425	G	C	exonic	OR52N1	.	nonsynonymous SNV	OR52N1:NM_001001913:exon1:c.C392G:p.P131R	.	432	1089	1	0	0	1	0.000458926	.	.	.	2386668	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.546	0.0260863825914	7.7e-05	.	0.0002	0	8.676e-05	0	0	0.0001	0	0.0007	0.0001294	20	154602	rs199876263	0.0001	0.0001	7.759e-05	0.0001	0.0009	9.199e-05	8.665e-05	0.0005	0.0005	0	4.474e-05	0	0	0	0.0009	7.105e-05	0.0002	0.0007	5.254e-05	5.25e-05	5.14e-05	5.373e-05	0.0002	2.556e-05	1.829e-05	2.846e-05	1.858e-05	0	0	0	0	0	0	0.0068	7.35e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.984	0.76113	D	0.000142	0.49130	D	0.000000	1	0.81001	D	4.575	0.99193	H	4.57	0.01917	T	-8.77	0.97742	D	0.881	0.87917	-0.8227	0.53765	T	0.064	0.26456	T	10	0.9109186	0.90456	D	0.026086	0.49023	D	0.546	0.81135	.	.	0.677296958874	0.67455	0.5636707496590361	0.56294	0.269562591483	0.29473	0.274538606405	0.06741	T	0.030761	0.21729	T	-0.00438811	0.51047	T	0.0921796	0.76391	D	0.984724164009094	0.75940	D	0.980102	0.93255	D	0.9155966	0.92822	0.87283975	0.93062	0.9155966	0.92823	0.87283975	0.93063	-9.869	0.73124	D	.	.	0.246	0.48071	B	.;.	.;.	2.799841	0.36826	20.3	0.99811842555484942	0.89531	0.99076	0.90873	D	AEFGI	0.869501	0.79007	D	0.971777164109701	0.94808	13.05804	0.813539026383987	0.90720	10.53668	0.999985157960102	0.51787	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.59	4.59	0.56297	7.554000	0.81159	.	.	-0.138000	0.12486	1.000000	0.71638	0.997000	0.33255	0.001000	0.02609	0.0:0.0:1.0:0.0	16.492	0.84048	730	0.54327	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1766.83	177	chr11	5788425	.	G	C	1766.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.566;DP=900;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.82;ReadPosRankSum=-1.281;SOR=0.699	GT:AD:DP:GQ:PL	0/1:103,77:180:99:1777,0,2749	5	0	1	0
chr11	5967729	5967729	T	C	exonic	OR56A5	.	nonsynonymous SNV	OR56A5:NM_001146033:exon1:c.A766G:p.T256A	.	413	1108	1	0	0	1	0.00045106	.	.	.	2253515	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0002	.	4.361e-05	0.0002	0.0001	0	0	0	0	7.798e-05	2.59e-05	4	154602	rs368896033	1.028e-05	1.094e-05	1.226e-05	8.269e-06	0.0003	6.17e-06	4.89e-06	6.092e-05	2.68e-05	8.963e-05	4.51e-05	0	0	0	0.0003	0	1.657e-05	8.186e-05	1.972e-05	1.97e-05	0	4.035e-05	7.24e-05	5.24e-06	2.45e-06	1.92e-05	1.032e-05	7.24e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.027	0.59159	D	0.999	0.77913	D	0.999	0.92359	D	.	.	.	.	.	.	.	3.235	0.89610	M	.	.	.	.	.	.	0.45	0.48780	.	.	.	.	.	.	.	0.15151832	0.28638	T	.	.	.	.	.	.	.	0.210429274316	0.20668	0.07662345417039666	0.07598	.	.	0.279564976692	0.07432	T	0.025627	0.19125	T	-0.0994128	0.36522	T	-0.101141	0.63310	T	.	.	.	0.786121	0.42437	T	0.16428043	0.36625	0.3295395	0.58832	0.16428043	0.36624	0.3295395	0.58831	-5.206	0.39003	T	.	.	0.116	0.23219	B	.;.	.;.	3.273988	0.44829	22.0	0.75444975216065913	0.11078	0.08191	0.14151	N	AEFDBI	.	.	.	.	.	.	.	.	.	5.01522223491136E-4	0.07176	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0747121	0.17392	4.86	3.65	0.40985	0.458000	0.21603	.	.	0.609000	0.47794	0.003000	0.16062	0.000000	0.08366	0.193000	0.21690	0.2582:0.0:0.1608:0.5809	4.846	0.12878	724	0.55085	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	988.83	44	chr11	5967729	.	T	C	988.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.567;DP=264;ExcessHet=0;FS=0.824;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=0.61;SOR=0.567	GT:AD:DP:GQ:PL	0/1:42,41:83:99:999,0,1081	5	0	1	0
chr11	6390701	6390724	CTGGTGCTGGCGCTGGCGCTGGCG	-	exonic	SMPD1	.	nonframeshift deletion	SMPD1:NM_000543:exon1:c.103_126del:p.V36_L43del,SMPD1:NM_001007593:exon1:c.103_126del:p.V36_L43del,SMPD1:NM_001318087:exon1:c.103_126del:p.V36_L43del,SMPD1:NM_001365135:exon1:c.103_126del:p.V36_L43del	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	13	1261	202	16	30	264	0.0849057	.	.	.	462081	Niemann-Pick_disease,_type_A|Niemann-Pick_disease,_type_B|not_provided	MONDO:MONDO:0009756,MedGen:C0268242,OMIM:257200,Orphanet:77292|MONDO:MONDO:0011871,MedGen:C0268243,OMIM:607616,Orphanet:77293|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.000998403	0.0022	0.0005	0.0016	0.0005	0.0004	0.0015	0	0.0080	0.0004226	11	26028	rs550067660	0.0013	0.0013	0.0011	0.0015	0.0071	0.0012	0.0012	0.0066	0.0065	0.0005	0.0014	0.0038	0.0004	0	0.0039	0.0008	0.0019	0.0071	0.0010	0.0009	0.0009	0.0010	0.0074	0.0008	0.0008	0.0053	0.0046	0.0002	0	0.0009	0.0039	0.0004	0	0.0078	0.0011	0.0005	0.0074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	759.79	43	chr11	6390700	.	CCTGGTGCTGGCGCTGGCGCTGGCG	C	759.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.406;DP=239;ExcessHet=0;FS=3.169;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.53;ReadPosRankSum=1.64;SOR=1.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,20:37:99:0|1:6390700_CCTGGTGCTGGCGCTGGCGCTGGCG_C:770,0,626:6390700	5	0	1	0
chr11	6390705	6390711	TGCTGGC	0	exonic	SMPD1	.	.	.	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	8976.07	74	chr11	6390705	.	TGCTGGC	*	8976.07	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.82;DP=333;ExcessHet=0;FS=3.631;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=30.64;ReadPosRankSum=-1.218;SOR=0.683	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,20:32:99:1|0:6390700_CCTGGTGCTGGCGCTGGCGCTGGCG_C:1304,500,626:6390700	5	0	1	0
chr11	8474715	8474715	T	C	exonic	STK33	.	nonsynonymous SNV	STK33:NM_001289061:exon2:c.A191G:p.N64S,STK33:NM_001352393:exon2:c.A191G:p.N64S,STK33:NM_001352396:exon2:c.A68G:p.N23S,STK33:NM_001352397:exon2:c.A68G:p.N23S,STK33:NM_001352399:exon2:c.A191G:p.N64S,STK33:NM_001289058:exon3:c.A68G:p.N23S,STK33:NM_001352387:exon3:c.A191G:p.N64S,STK33:NM_001352391:exon3:c.A191G:p.N64S,STK33:NM_001352394:exon3:c.A68G:p.N23S,STK33:NM_001352395:exon3:c.A68G:p.N23S,STK33:NM_001352398:exon3:c.A68G:p.N23S,STK33:NM_030906:exon3:c.A191G:p.N64S,STK33:NM_001352388:exon4:c.A191G:p.N64S,STK33:NM_001352390:exon4:c.A191G:p.N64S,STK33:NM_001352392:exon4:c.A191G:p.N64S,STK33:NM_001352389:exon5:c.A191G:p.N64S	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.0135606574936	.	0.000199681	0.0003	0	0	0	0	4.573e-05	0	0.0018	0.0002199	34	154602	rs570390366	0.0001	0.0001	8.045e-05	0.0002	0.0017	0.0001	0.0001	0.0015	0.0014	0	0	0	0	0	0.0003	3.06e-05	0.0001	0.0017	4.597e-05	4.593e-05	5.14e-05	4.029e-05	0.0010	2.108e-05	1.526e-05	0.0004	0.0003	2.407e-05	0	6.537e-05	0	0	0	0	0	0	0.0010	0.324	0.15047	T	0.77	0.21947	T	0.002	0.09854	B	0.001	0.04355	B	0.233437	0.03533	N	1.582870	1	0.08975	N	1.04	0.26193	L	-0.41	0.70365	T	0.1	0.09965	N	0.006	0.04072	-1.0378	0.17985	T	0.148	0.47451	T	10	0.008244723	0.00187	T	0.013561	0.33056	T	0.032	0.07718	0.186	0.09517	0.306053231325	0.30222	0.104759688149967	0.10405	0.0613836107594	0.06837	0.271363794804	0.06319	T	0.003726	0.08381	T	-0.60164	0.00142	T	-0.656005	0.08539	T	0.0424917169353681	0.04145	T	0.266073	0.04370	T	0.0163152	0.00190	0.019035386	0.00075	0.0163152	0.00189	0.019035386	0.00074	-3.07	0.10954	T	.	.	0.072	0.08899	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	-2.515550	0.00031	0.001	0.1731051690130232	0.00499	0.00464	0.02234	N	AEI	0.094336	0.19076	N	-1.8900344798874	0.00360	0.01546363	-1.97750789674643	0.00341	0.01507939	3.62914443323609E-4	0.06707	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	3.98	-5.77	0.02176	-3.802000	0.00408	-2.544000	0.03626	-1.618000	0.00872	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1247:0.2632:0.233:0.3791	1.332	0.02008	453	0.79178	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	735.83	34	chr11	8474715	.	T	C	735.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.587;DP=227;ExcessHet=0;FS=1.181;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=-3.263;SOR=1.002	GT:AD:DP:GQ:PL	0/1:25,27:52:99:746,0,731	5	0	1	0
chr11	18291681	18291681	C	T	exonic	HPS5	.	nonsynonymous SNV	HPS5:NM_007216:exon15:c.G1859A:p.R620Q,HPS5:NM_181508:exon15:c.G1859A:p.R620Q,HPS5:NM_181507:exon16:c.G2201A:p.R734Q	Hermansky-Pudlak syndrome 5	.	.	.	.	.	.	.	.	.	.	1461335	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.082	0.0172362263528	.	.	3.295e-05	0	0	0	0	5.993e-05	0	0	3.23e-05	5	154602	rs774037351	5.814e-05	5.814e-05	5.173e-05	6.463e-05	0.0002	4.809e-05	4.431e-05	5.797e-05	5.365e-05	0	0	0	0	0	0.0002	7.104e-05	3.312e-05	3.478e-05	3.283e-05	3.281e-05	2.569e-05	4.028e-05	0.0002	1.26e-05	7.97e-06	4.88e-06	1.83e-06	2.406e-05	0	0	0	0	0	0.0034	2.94e-05	0	0.0002	1.0	0.00964	T	0.966	0.02509	T	0.0	0.02946	B	0.001	0.04355	B	0.293834	0.14719	N	0.700616	1	0.08975	N	-1.19	0.00851	N	-0.78	0.73631	T	0.53	0.02808	N	0.132	0.12770	-0.9538	0.40310	T	0.080	0.31735	T	10	0.03172037	0.01311	T	0.017236	0.38857	T	0.082	0.23913	0.23	0.15705	0.441949972293	0.43817	0.05718495047371395	0.05659	0.0577316834944	0.06392	0.268010914326	0.05883	T	0.052583	0.29203	T	-0.372018	0.03494	T	-0.590627	0.13612	T	0.0389152024365699	0.03495	T	0.20078	0.02277	T	0.013736912	0.00068	0.026675934	0.00770	0.013736912	0.00068	0.026675934	0.00770	-2.795	0.09548	T	.	.	0.056	0.00563	B	.;.;.	.;.;.	0.933979	0.13095	9.596	0.13997350357197483	0.00294	0.01563	0.05111	N	AEFGBI	0.028761	0.02595	N	-1.31085285793432	0.03550	0.1587806	-1.12661005269876	0.07195	0.3490739	0.00728670179517482	0.11429	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.56	0.601	0.16708	-0.043000	0.11996	-0.081000	0.12176	-0.108000	0.15293	0.408000	0.26234	0.862000	0.27499	0.586000	0.31041	0.2276:0.3242:0.0:0.4482	4.604	0.11758	640	0.64132	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1212.83	34	chr11	18291681	.	C	T	1212.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.144;DP=280;ExcessHet=0;FS=0.733;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-0.268;SOR=0.601	GT:AD:DP:GQ:PL	0/1:54,49:103:99:1223,0,1402	5	0	1	0
chr11	36592939	36592939	C	G	exonic	RAG2	.	nonsynonymous SNV	RAG2:NM_000536:exon2:c.G1230C:p.E410D,RAG2:NM_001243785:exon3:c.G1230C:p.E410D,RAG2:NM_001243786:exon3:c.G1230C:p.E410D	Combined cellular and humoral immune defects with granulomas, Autosomal recessive;Omenn syndrome, Autosomal recessive;Severe combined immunodeficiency, B cell-negative, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.724	0.184111845529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	0.989	0.62824	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	0.997921	0.44325	D	3.045	0.86684	M	-4.39	0.97394	D	-1.34	0.33401	N	0.61	0.62696	0.981	0.96875	D	0.932	0.97744	D	10	0.74751085	0.75395	D	0.184112	0.85729	D	0.724	0.90280	0.655	0.79276	0.949606292796	0.94907	0.5783541702396763	0.57764	0.416349650705	0.42283	0.691780388355	0.65962	T	0.535211	0.83987	D	0.262356	0.79746	D	0.13908	0.79483	D	0.982266187667847	0.74389	D	0.935806	0.75965	D	0.4970505	0.66921	0.42633614	0.66414	0.4970505	0.66922	0.42633614	0.66414	-3.527	0.16812	T	0.4996836790850691	0.57511	0.344	0.59611	A	.;.	.;.	2.759110	0.36189	20.2	0.99754016305850435	0.84460	0.84979	0.44077	D	AEFBI	0.598256	0.59172	D	0.347464662238875	0.58605	4.033851	0.215856993075376	0.50725	3.261712	0.99959847292894	0.40745	0.497415	0.19182	0	0.59043	0.45803	0	0.408882	0.06424	0	0.530356	0.10902	0	.	.	5.23	-0.634	0.10937	0.385000	0.20413	-0.476000	0.08948	0.599000	0.40250	0.997000	0.40164	0.036000	0.21445	1.000000	0.97212	0.0:0.5159:0.0:0.4841	10.518	0.44088	374	0.84073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	30.69	127	chr11	36592939	.	C	G	30.69	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-2.964;DP=521;ExcessHet=0;FS=123.02;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.38;ReadPosRankSum=3.19;SOR=7.222	GT:AD:DP:GQ:PL	0/1:67,13:86:40:40,0,1493	4	0	1	1
chr11	61740531	61740531	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1922C:p.I641T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0197228382319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.015	0.61642	D	0.948	0.53620	P	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	1.82	0.25018	T	-2.3	0.51157	N	0.794	0.79022	-1.0707	0.09260	T	0.080	0.31675	T	10	0.8145296	0.80704	D	0.019723	0.42154	T	0.403	0.71636	0.74	0.87232	0.236619781664	0.23270	0.7000053541781993	0.69941	0.918852446908	0.71372	0.869591116905	0.92510	D	0.336126	0.70567	T	0.210662	0.74892	D	0.0648253	0.74565	D	0.952781975269318	0.63873	D	0.952105	0.81652	D	0.31849626	0.54512	0.2169086	0.46336	0.31849626	0.54512	0.2169086	0.46335	-9.563	0.71251	D	.	.	0.611	0.69337	P	.	.	4.584081	0.72443	25.8	0.99816410860115734	0.89973	0.98810	0.87149	D	AEFBI	0.685886	0.64774	D	0.421747977381816	0.62620	4.480836	0.433105891452527	0.63640	4.601745	0.999999987493739	0.74766	0.67177	0.52595	0	0.55458	0.17659	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	6.166000	0.71739	6.033000	0.52942	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.945	0.63586	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	2249.55	76	chr11	61740531	.	T	C	2249.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.876;DP=490;ExcessHet=11.5949;FS=293.869;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.93;ReadPosRankSum=0.58;SOR=10.008	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:49,28:77:99:.:.:452,0,829:.	0	0	6	0
chr11	62910463	62910463	C	T	exonic	CHRM1	.	nonsynonymous SNV	CHRM1:NM_000738:exon2:c.G638A:p.R213Q	.	417	1104	1	0	0	1	0.000452694	.	.	.	3297258	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.060	0.00667285145544	7.7e-05	.	6.61e-05	0	0.0003	0	0	4.513e-05	0	0.0001	7.12e-05	11	154602	rs146879247	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0002	2.987e-05	0.0002	0	5.038e-05	0	0	0.0002	0.0004	0.0003	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	8.717e-05	0.0001	0.0001	0.0001	0	0.0001	0	0	0	0	0.0002	0	0	0.087	0.32453	T	0.174	0.30045	T	0.676	0.41315	P	0.19	0.36341	B	0.011645	0.29451	N	0.217585	0.828609	0.28789	N	-0.44	0.02835	N	1.08	0.39401	T	-1.34	0.33401	N	0.134	0.13055	-1.0527	0.13655	T	0.069	0.28180	T	10	0.12196398	0.23130	T	0.006673	0.17614	T	0.060	0.17295	.	.	0.532773998898	0.52926	0.9180257139916437	0.91778	1.21482918538	0.80924	0.58466899395	0.50743	T	0.37551	0.73909	T	-0.404911	0.02149	T	-0.513427	0.20964	T	0.0737778022885323	0.09172	T	0.933007	0.74900	D	0.13176501	0.30703	0.089397445	0.20903	0.13176501	0.30703	0.089397445	0.20902	-3.32	0.14444	T	.	.	0.120	0.24666	B	.;.	.;.	3.063455	0.41146	21.3	0.99783092101171511	0.86955	0.09277	0.15065	N	AEFDBI	0.208712	0.33477	N	-0.277096024228201	0.30034	1.671027	-0.247407290297463	0.29861	1.676449	0.999991000291204	0.74766	0.495158	0.18159	0	0.59043	0.45803	0	0.535252	0.11790	0	0.613276	0.41899	0	.	.	4.48	3.57	0.40014	0.191000	0.16883	.	.	0.596000	0.33519	0.014000	0.18986	1.000000	0.68203	0.997000	0.79791	0.0:0.8991:0.0:0.1009	9.799	0.39921	804	0.43891	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	500.83	33	chr11	62910463	.	C	T	500.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.25;DP=253;ExcessHet=0;FS=1.049;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.08;ReadPosRankSum=-0.038;SOR=0.456	GT:AD:DP:GQ:PL	0/1:42,20:62:99:511,0,1076	5	0	1	0
chr11	64898329	64898329	T	C	exonic	ATG2A	.	nonsynonymous SNV	ATG2A:NM_001367971:exon33:c.A4681G:p.T1561A,ATG2A:NM_001367972:exon33:c.A4687G:p.T1563A,ATG2A:NM_015104:exon33:c.A4705G:p.T1569A	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00562109093714	.	0.000199681	0.0002	0	0	0	0	0.0003	0	0.0002	0.0001294	20	154602	rs553911523	0.0001	0.0001	9.693e-05	0.0001	0.0008	0.0001	9.728e-05	0.0003	0.0002	3.012e-05	0.0001	3.86e-05	0	0	0.0008	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	9.407e-05	0.0006	7.091e-05	5.748e-05	0.0002	9.003e-05	2.408e-05	0	0	0	0	0	0.0034	0.0002	0	0.0006	0.354	0.12148	T	0.23	0.25135	T	0.0	0.02946	B	0.001	0.04355	B	0.059309	0.22334	N	0.468991	0.997261	0.22728	N	0.625	0.15840	N	3.35	0.05989	T	-0.57	0.17210	N	0.174	0.18649	-1.0023	0.29255	T	0.040	0.17149	T	10	0.022924393	0.00585	T	0.005621	0.14530	T	0.023	0.04649	.	.	0.196089822672	0.19227	0.11987978823343876	0.11914	0.482782264221	0.47234	0.351881146431	0.18198	T	0.011597	0.10324	T	-0.463391	0.00936	T	-0.623971	0.10876	T	0.0120584489418034	0.00191	T	0.707729	0.31835	T	0.028561374	0.02212	0.027126288	0.00844	0.028561374	0.02211	0.027126288	0.00844	-1.276	0.01363	T	.	.	0.057	0.00543	B	.	.	0.908018	0.12825	9.337	0.80537833516362545	0.13250	0.19330	0.20618	N	AEFGBI	0.074289	0.14886	N	-0.76575677905647	0.14209	0.705954	-0.882123898142891	0.12517	0.6443464	0.997535643897398	0.35727	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.38	-2.18	0.06643	0.231000	0.17651	-0.010000	0.13073	0.665000	0.62972	0.024000	0.20007	0.004000	0.18990	0.932000	0.46971	0.1685:0.4727:0.0:0.3588	5.035	0.13770	265	0.89590	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.1667	2084.04	38	chr11	64898329	.	T	C	2084.04	.	AC=2;AF=0.167;AN=12;DP=267;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=33.61;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,62:62:99:2104,186,0	5	1	0	0
chr11	64925843	64925843	C	T	exonic	PPP2R5B	.	nonsynonymous SNV	PPP2R5B:NM_006244:exon2:c.C109T:p.R37C	.	424	1096	2	0	0	2	0.000911577	.	.	.	2246882	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.123	0.0131439535755	.	.	3.822e-05	0	0	0	0	1.751e-05	0	0.0002	2.59e-05	4	154602	rs753530198	1.508e-05	1.505e-05	6.821e-06	2.343e-05	0.0004	9.87e-06	8.43e-06	7.344e-05	4.764e-05	0	0	0	2.52e-05	1.919e-05	0.0004	6.297e-06	1.662e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.56456	D	0.158	0.48080	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.25	0.63811	M	.	.	.	-2.19	0.49352	N	0.617	0.63289	-0.7698	0.56868	T	0.202	0.55877	T	9	0.2400623	0.41158	T	0.013144	0.32307	T	0.123	0.34020	0.274	0.22528	0.311241185304	0.30733	0.510910253534935	0.51013	0.35579911258	0.37335	0.85163640976	0.89861	D	0.109079	0.42264	T	-0.124017	0.32469	T	-0.212319	0.53473	T	0.67556220293045	0.39587	D	0.948305	0.80045	D	0.2170432	0.44178	0.11860933	0.28631	0.2170432	0.44178	0.11860933	0.28630	-6.68	0.51660	T	.	.	0.656	0.71168	P	.;.	.;.	5.604958	0.92489	32	0.99927038449586003	0.99163	0.95774	0.66097	D	AEFDBI	0.443794	0.50095	N	0.441771836724016	0.63737	4.613362	0.420793022916359	0.62860	4.50903	0.999999991147982	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.603688	0.36954	0	0.56751	0.32155	0	.	.	4.27	3.33	0.37245	2.937000	0.48672	5.856000	0.50385	0.596000	0.33519	0.996000	0.39380	1.000000	0.68203	0.992000	0.67800	0.0:0.892:0.0:0.108	9.484	0.38082	319	0.87030	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2267.04	34	chr11	64925843	.	C	T	2267.04	.	AC=2;AF=0.167;AN=12;DP=253;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=29.83;SOR=0.92	GT:AD:DP:GQ:PL	1/1:0,76:76:99:2287,228,0	5	1	0	0
chr11	65593785	65593785	C	T	exonic	KCNK7	.	nonsynonymous SNV	KCNK7:NM_005714:exon2:c.G409A:p.V137M,KCNK7:NM_033347:exon2:c.G409A:p.V137M,KCNK7:NM_033348:exon2:c.G409A:p.V137M,KCNK7:NM_033455:exon2:c.G409A:p.V137M	.	423	1062	36	1	0	38	0.0175763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00577556086702	0.0014	0.000399361	0.0019	0.0005	0.0014	0	0	0.0030	0.0062	0.0007	0.0018111	280	154602	rs149447683	0.0016	0.0016	0.0015	0.0017	0.0376	0.0016	0.0015	0.0335	0.0319	0.0006	0.0025	0.0187	0.0001	0	0.0376	0.0011	0.0033	0.0011	0.0018	0.0018	0.0019	0.0018	0.0038	0.0017	0.0016	0.0030	0.0027	0.0002	0	0.0038	0.0184	0	0	0.0476	0.0017	0.0057	0.0008	0.11	0.31532	T	0.123	0.36233	T	0.473	0.36591	P	0.055	0.25995	B	0.544865	0.11497	N	0.759301	0.999989	0.18198	N	1.27	0.32069	L	1.68	0.27184	T	-0.11	0.08653	N	0.212	0.23632	-1.0365	0.18388	T	0.028	0.11795	T	10	0.006858796	0.00156	T	0.005776	0.14982	T	0.017	0.02790	.	.	0.130388298395	0.12655	0.37698241270892413	0.37613	0.0366019164436	0.03876	0.352996230125	0.18362	T	0.206739	0.56617	T	-0.618864	0.00112	T	-0.667899	0.07743	T	0.000291800856374316	0.00002	T	0.658834	0.26791	T	0.031864665	0.03105	0.047816005	0.06969	0.031864665	0.03104	0.047816005	0.06969	-4.658	0.32892	T	.	.	0.188	0.42678	B	.;.;.;.	.;.;.;.	0.955733	0.13320	9.823	0.92703178222089044	0.22195	0.09203	0.15006	N	ALL	0.082991	0.16809	N	-0.973156729164069	0.09180	0.433405	-1.01309740300148	0.09497	0.4728101	0.999999999598465	0.74766	0.648878	0.45929	0	0.703908	0.78521	0	0.596394	0.31383	0	0.636	0.56748	0	.	.	5.45	-1.52	0.08181	0.160000	0.16278	0.050000	0.13987	-0.799000	0.03183	0.000000	0.06391	0.001000	0.17328	0.046000	0.14843	0.2329:0.253:0.3671:0.147	2.279	0.03857	275	0.89190	Potassium channel domain;Potassium channel domain;Potassium channel domain;Potassium channel domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.034378	0.015306	0.057221	0.058480	0.000000	0.043103	0.009202	0.003846	0.1667	1587.04	40	chr11	65593785	.	C	T	1587.04	.	AC=2;AF=0.167;AN=12;DP=241;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.39;SOR=0.818	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1607,147,0	5	1	0	0
chr11	66863811	66863811	C	T	exonic	PC	.	nonsynonymous SNV	PC:NM_022172:exon10:c.G1331A:p.S444N,PC:NM_000920:exon11:c.G1331A:p.S444N,PC:NM_001040716:exon12:c.G1331A:p.S444N	Pyruvate carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.0403761480499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.07746	T	0.513	0.10821	T	0.001	0.07471	B	0.006	0.12133	B	0.000002	0.62929	D	0.096468	0.999867	0.50061	D	0.27	0.09956	N	-1.49	0.81235	T	0.25	0.04456	N	0.597	0.61596	-0.7183	0.59546	T	0.281	0.65280	T	10	0.371042	0.53477	T	0.040376	0.59342	D	0.340	0.66202	0.353	0.35246	0.417919123248	0.41407	.	.	0.828852337507	0.67540	0.812464594841	0.83870	D	0.306455	0.67866	T	-0.0390994	0.46083	T	-0.29394	0.45361	T	0.607176721096039	0.36687	D	0.939506	0.77539	D	0.16597606	0.36904	0.18945736	0.42293	0.16597606	0.36904	0.18945736	0.42293	-5.616	0.42938	T	0.0686599878140657	0.02511	0.139	0.30370	B	.;.;.;.;.	.;.;.;.;.	2.999539	0.40076	21.1	0.94205998637530508	0.24445	0.96446	0.69180	D	AEFDGBI	0.747219	0.68934	D	-0.12521594567028	0.36297	2.09615	0.0861861627878325	0.43852	2.678501	0.999999992442072	0.74766	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	5.54	5.54	0.82907	5.305000	0.65541	7.502000	0.59501	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.8337:0.1663:0.0	12.661	0.56177	297	0.88113	Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	287.99	62	chr11	66863811	.	C	T	287.99	.	AC=2;AF=0.333;AN=6;BaseQRankSum=-2.923;DP=389;ExcessHet=0.4139;FS=178.811;MLEAC=3;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.45;ReadPosRankSum=1.15;SOR=8.497	GT:AD:DP:GQ:PL	0/1:64,36:100:78:78,0,831	1	0	2	3
chr11	67424101	67424101	C	T	exonic	CARNS1	.	nonsynonymous SNV	CARNS1:NM_020811:exon9:c.C1984T:p.R662C,CARNS1:NM_001166222:exon10:c.C2353T:p.R785C	.	416	1095	11	0	0	11	0.00499773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.605	0.383238732897	0.0009	0.000199681	0.0015	0.0003	0.0007	0	0	0.0021	0.0068	0.0012	0.0013325	206	154602	rs200939791	0.0011	0.0011	0.0010	0.0012	0.0116	0.0011	0.0010	0.0094	0.0086	0.0005	0.0010	0.0169	0	0	0.0116	0.0007	0.0025	0.0012	0.0012	0.0012	0.0012	0.0012	0.0014	0.0010	0.0010	0.0007	0.0007	0.0002	0.0066	0.0010	0.0187	0	0	0.0204	0.0009	0.0043	0.0014	0.004	0.65419	D	0.001	0.83351	D	0.999	0.77913	D	0.916	0.65201	D	0.052379	0.22900	N	0.365189	0.999991	0.58761	D	2.12	0.58754	M	-4.74	0.98081	D	-4.6	0.78976	D	0.577	0.59901	1.076	0.98747	D	0.938	0.97961	D	10	0.009218007	0.00208	T	0.383239	0.93020	D	0.605	0.84452	.	.	0.715623069456	0.71312	0.612148894738151	0.61146	0.476242369952	0.46766	0.4908875525	0.37561	T	0.110191	0.42469	T	-0.0650303	0.42119	T	0.0882603	0.76129	D	0.0333921148596845	0.02536	T	0.935706	0.75920	D	0.24615945	0.47582	0.20038329	0.43967	0.24615945	0.47582	0.20038329	0.43966	-9.406	0.70272	D	.	.	0.101	0.28027	B	.;.;.	.;.;.	5.297910	0.88949	29.8	0.99935222376539823	0.99579	0.96281	0.68375	D	AEFBI	0.808532	0.73228	D	0.612634333322644	0.73972	6.054346	0.610730061525176	0.75719	6.360326	0.999999999276438	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.25	5.25	0.73169	4.015000	0.56864	7.678000	0.65147	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	17.616	0.87969	654	0.62520	.;ATP-grasp fold;.	.	.	.	.	.	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	0.014113	0.005051	0.019022	0.020468	0.000000	0.034483	0.009202	0.000000	0.1667	3319.04	38	chr11	67424101	.	C	T	3319.04	.	AC=2;AF=0.167;AN=12;DP=289;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=34.22;SOR=0.714	GT:AD:DP:GQ:PL	1/1:0,97:97:99:3339,291,0	5	1	0	0
chr11	71582755	71582755	C	0	exonic	KRTAP5-11	.	.	.	.	435	1026	56	4	1	65	0.0302457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2432.45	38	chr11	71582755	.	C	*	2432.45	.	AC=3;AF=0.25;AN=12;DP=709;ExcessHet=0.7136;FS=4.23;MLEAC=3;MLEAF=0.25;MQ=59.82;QD=5.95;SOR=0.463	GT:AD:DP:GQ:PL	0/1:53,50:103:99:1952,0,2002	3	0	3	0
chr11	72824760	72824760	T	C	exonic	ATG16L2	.	nonsynonymous SNV	ATG16L2:NM_001318766:exon9:c.T596C:p.I199T,ATG16L2:NM_033388:exon9:c.T914C:p.I305T	.	424	1097	1	0	0	1	0.000455581	.	.	.	3279801	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.147	0.00779501880294	0.0002	0.000199681	0.0002	0.0003	0.0010	0	0	0.0001	0	0.0001	0.0001617	25	154602	rs199726953	0.0001	0.0001	0.0001	0.0001	0.0010	0.0001	9.769e-05	0.0007	0.0007	0.0002	0.0010	0	2.52e-05	1.873e-05	0.0007	7.285e-05	0.0003	0.0002	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	0.0002	0	0.0004	0	0	0	0	0.0002	0	0.0002	0.281	0.31682	T	0.108	0.39645	T	0.009	0.15093	B	0.007	0.12992	B	0.000000	0.00162	N	171.105000	1	0.81001	D	1.95	0.52479	M	0.57	0.57100	T	-1.4	0.36189	N	0.422	0.46180	-1.0850	0.06407	T	0.109	0.39320	T	10	0.040379763	0.02602	T	0.007795	0.20668	T	0.147	0.38986	.	.	0.688381363808	0.68571	0.2760666609507693	0.27519	0.314096545995	0.33693	0.369410693645	0.20748	T	0.030431	0.21574	T	-0.343052	0.05179	T	-0.315987	0.43012	T	0.028642114251852	0.01783	T	0.840516	0.54093	T	0.12631376	0.29589	0.11818954	0.28530	0.12631376	0.29589	0.11818954	0.28529	-2.094	0.03558	T	.	.	0.099	0.16670	B	.;.;.	.;.;.	3.541081	0.49734	22.8	0.98277434927211138	0.39823	0.93348	0.57977	D	AEFDBCI	0.459781	0.51024	N	-0.235851858581917	0.31673	1.778303	-0.0267189317824434	0.38513	2.270047	0.999999693523052	0.74766	0.706298	0.61202	0	0.697927	0.68747	0	0.709663	0.75317	0	0.592323	0.36904	0	.	.	4.83	4.83	0.61880	1.880000	0.39263	6.108000	0.53630	0.665000	0.62972	0.447000	0.26542	0.982000	0.30508	0.984000	0.60418	0.0:0.0:0.0:1.0	10.710	0.45177	509	0.75304	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1975.83	34	chr11	72824760	.	T	C	1975.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.976;DP=359;ExcessHet=0;FS=4.16;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=1.39;SOR=0.638	GT:AD:DP:GQ:PL	0/1:92,94:186:99:1986,0,2136	5	0	1	0
chr11	75430221	75430221	C	T	exonic	KLHL35	.	nonsynonymous SNV	KLHL35:NM_001039548:exon1:c.G409A:p.G137S	.	448	1053	20	1	0	22	0.0103383	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	.	.	0.000599042	0.0272	0	0	0	.	0	0	0.0324	0.0005498	85	154602	rs575396620	0.0028	0.0027	0.0027	0.0029	0.0087	0.0027	0.0026	0.0079	0.0076	0.0002	0.0024	0.0031	0.0001	0.0221	0.0059	0.0022	0.0032	0.0087	0.0036	0.0037	0.0023	0.0049	0.0073	0.0033	0.0032	0.0054	0.0047	0.0003	0	0.0017	0.0032	0.0002	0.0293	0	0.0024	0.0073	0.0073	0.608	0.05501	T	0.74	0.04982	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.2	0.66113	T	1.18	0.01107	N	0.183	0.19861	-1.0191	0.24008	T	0.112	0.40168	T	6	0.010531008	0.00234	T	.	.	.	0.046	0.12618	.	.	0.263140351381	0.25927	0.2755879109376524	0.27471	0.0722180226617	0.08101	0.930422902107	0.99011	D	0.124984	0.45038	T	-0.485221	0.00690	T	-0.460368	0.26558	T	0.00850383789201212	0.00103	T	0.540346	0.18307	T	0.06870415	0.14991	0.081025176	0.18381	0.06870415	0.14991	0.081025176	0.18380	-5.267	0.39615	T	.	.	0.159	0.35204	B	.	.	2.056848	0.26148	17.02	0.78007731980886863	0.12116	0.08138	0.14103	N	ALL	.	.	.	-0.638880124747	0.17786	0.9181286	-0.756174027925671	0.15570	0.8195732	0.999999999968556	0.74766	0.623204	0.39778	0	0.606814	0.50340	0	0.378051	0.06126	2	0.765457	0.99879	0	.	.	3.84	1.77	0.23848	0.534000	0.22807	3.384000	0.38022	0.434000	0.20985	0.001000	0.13787	0.979000	0.30280	0.029000	0.12982	0.1958:0.4634:0.2208:0.1201	1.913	0.03092	773	0.48803	BTB/POZ domain|BTB/POZ 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	0.005725	0.000000	0.000000	0.000000	0.000000	0.000000	0.018519	0.000000	0.1667	1841.07	34	chr11	75430221	.	C	T	1841.07	.	AC=2;AF=0.167;AN=12;DP=190;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.3;SOR=1.14	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1861,171,0	5	1	0	0
chr11	95835367	95835367	A	G	exonic	MTMR2	.	nonsynonymous SNV	MTMR2:NM_016156:exon15:c.T1855C:p.S619P,MTMR2:NM_201281:exon16:c.T1639C:p.S547P,MTMR2:NM_201278:exon17:c.T1639C:p.S547P,MTMR2:NM_001243571:exon18:c.T1639C:p.S547P	Charcot-Marie-Tooth disease, type 4B1, Autosomal recessive	1	1477	40	4	0	48	0.0159893	.	.	.	231812	MTMR2-related_disorder|Charcot-Marie-Tooth_disease_type_4B1|not_provided|Charcot-Marie-Tooth_disease|Charcot-Marie-Tooth_disease_type_4	.|MONDO:MONDO:0011066,MedGen:C1832399,OMIM:601382,Orphanet:99955|MedGen:C3661900|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166|MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.372	.	0.0016	0.00399361	0.0030	9.634e-05	0.0011	0	0.0017	0.0026	0.0022	0.0101	0.0029301	453	154602	rs116750638	0.0021	0.0021	0.0018	0.0025	0.0098	0.0021	0.0020	0.0093	0.0091	0.0002	0.0013	0.0033	5.039e-05	0.0021	0.0059	0.0016	0.0024	0.0098	0.0020	0.0020	0.0020	0.0021	0.0133	0.0018	0.0018	0.0107	0.0097	0.0004	0	0.0020	0.0055	0.0002	0.0008	0.0102	0.0024	0.0009	0.0133	0.069	0.35537	T	0.248	0.23845	T	0.002	0.09854	B	0.002	0.06944	B	0.000091	0.51296	D	0.202843	0.998256	0.48079	D	1.67	0.42885	L	-3.63	0.95984	D	-2.28	0.50830	N	0.125	0.13769	0.193	0.85786	D	0.736	0.90983	D	10	0.0077272058	0.00175	T	.	.	.	0.372	0.69102	.	.	0.944764497742	0.94418	0.5595205592317944	0.55879	0.467842068209	0.46150	0.568110406399	0.48410	T	0.491021	0.81557	T	-0.17215	0.24910	T	-0.0122396	0.69539	D	0.0243959395278633	0.01194	T	0.907509	0.67274	D	0.33594596	0.55954	0.4682053	0.69152	0.28237277	0.51275	0.46881017	0.69190	-6.111	0.48824	T	.	.	0.319	0.58197	B	.;.;.;.;.	.;.;.;.;.	3.875525	0.56290	23.7	0.99573003205197541	0.72501	0.89537	0.50064	D	AEFBI	0.462859	0.51202	N	-0.0352593490406058	0.40263	2.388136	0.162877497370997	0.47829	3.007267	0.99999953904504	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.702456	0.68683	0	0.733575	0.97253	0	.	.	6.17	6.17	0.99707	1.278000	0.32784	6.912000	0.56902	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.652:0.122:0.0:0.226	7.011	0.24042	909	0.22467	.;.;.;.;.	.	.	.	.	.	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	0.004532	0.000000	0.002717	0.000000	0.050000	0.000000	0.009146	0.011364	0.08333	798.83	38	chr11	95835367	.	A	G	798.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.74;DP=215;ExcessHet=0;FS=2.749;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.02;ReadPosRankSum=0.959;SOR=0.493	GT:AD:DP:GQ:PL	0/1:15,27:42:99:809,0,360	5	0	1	0
chr11	104037965	104037965	C	A	exonic	DDI1	.	nonsynonymous SNV	DDI1:NM_001001711:exon1:c.C1143A:p.D381E	.	436	1074	11	1	0	13	0.00601573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.00637057835506	.	0.000599042	0.0009	0	0.0003	0	0	0.0003	0.0011	0.0051	0.000705	109	154602	rs144680864	0.0006	0.0006	0.0004	0.0008	0.0053	0.0006	0.0006	0.0049	0.0048	8.961e-05	0.0003	7.652e-05	0	3.744e-05	0.0026	0.0003	0.0006	0.0053	0.0004	0.0004	0.0003	0.0005	0.0048	0.0003	0.0003	0.0033	0.0028	0	0	0.0007	0	0	0	0	0.0004	0.0009	0.0048	0.115	0.28520	T	0.288	0.21144	T	0.77	0.43887	P	0.345	0.42592	B	0.000614	0.42945	D	0.186877	1	0.08975	N	2.215	0.62545	M	1.95	0.22474	T	-0.83	0.22727	N	0.052	0.02366	-1.0584	0.12159	T	0.049	0.20789	T	10	0.008690834	0.00197	T	0.006371	0.16754	T	0.066	0.19193	0.182	0.09004	0.289474373501	0.28556	0.3500023947828932	0.34914	0.383896752763	0.39705	0.287356495857	0.08538	T	0.003581	0.02990	T	-0.661671	0.00061	T	-0.721854	0.04706	T	0.0334122332517843	0.02539	T	0.320168	0.06459	T	0.04294184	0.06603	0.041064538	0.04583	0.04294184	0.06603	0.041064538	0.04583	-3.19	0.12358	T	.	.	0.068	0.02670	B	.	.	0.111971	0.05110	1.643	0.9415990770344681	0.24365	0.07064	0.13090	N	AEFDI	.	.	.	-0.536871656519424	0.20897	1.10505	-0.731749175833739	0.16172	0.8542295	5.61482114078794E-4	0.07335	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.97	-0.368	0.11913	-0.698000	0.05194	.	.	-0.190000	0.09434	0.001000	0.13787	0.010000	0.20010	0.013000	0.09966	0.1734:0.4304:0.0:0.3962	3.505	0.07248	914	0.21048	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	934.83	36	chr11	104037965	.	C	A	934.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.365;DP=400;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=0.485;SOR=0.715	GT:AD:DP:GQ:PL	0/1:52,39:91:99:945,0,1454	5	0	1	0
chr11	110164704	110164704	A	G	exonic	ZC3H12C	.	nonsynonymous SNV	ZC3H12C:NM_033390:exon6:c.A1619G:p.N540S	.	439	1076	7	0	0	7	0.00324224	.	.	.	4095645	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.123	0.00690392620275	.	.	0.0001	0.0001	0	0	0	0.0002	0	0.0001	0.00011	17	154602	rs558671932	9.715e-05	9.782e-05	9.257e-05	0.0001	0.0031	8.377e-05	7.916e-05	0.0020	0.0017	8.961e-05	0	0	0	0	0.0031	7.465e-05	0.0002	0.0003	9.198e-05	9.193e-05	6.422e-05	0.0001	0.0002	5.527e-05	4.364e-05	0.0001	7.894e-05	0	0	0.0001	0	0	0	0	0.0002	0	0	1.0	0.00964	T	1.0	0.01155	T	0.817	0.45613	P	0.164	0.34953	B	0.000551	0.43413	D	0.274240	0.716046	0.33568	D	1.065	0.27018	L	1.7	0.27032	T	0.35	0.04456	N	0.564	0.58798	-1.0455	0.15680	T	0.035	0.15074	T	10	0.11806816	0.22313	T	0.006904	0.18261	T	0.123	0.34020	.	.	0.043077524339	0.03247	0.20942354367110386	0.20858	1.14515509009	0.79054	0.530146837234	0.43055	T	0.012722	0.11134	T	-0.397355	0.02409	T	-0.508225	0.21499	T	0.0634698793292046	0.07703	T	0.89721	0.64041	D	0.050415944	0.09105	0.07629695	0.16885	0.050415944	0.09104	0.07629695	0.16884	-2.276	0.04425	T	.	.	0.064	0.02765	B	.;.;.	.;.;.	1.946894	0.24726	16.50	0.16119926022004552	0.00420	0.83769	0.42866	D	AEFGBCI	0.455323	0.50765	N	0.012347756017846	0.42415	2.555244	0.19924976101766	0.49805	3.179509	0.642288801811135	0.22065	0.706548	0.73137	0	0.577304	0.33150	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.85	5.85	0.93663	6.424000	0.73282	9.379000	0.80502	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	16.248	0.82284	601	0.67921	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.002924	0.050000	0.000000	0.000000	0.000000	0.08333	2667.83	34	chr11	110164704	.	A	G	2667.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.489;DP=478;ExcessHet=0;FS=0.499;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=0.198;SOR=0.645	GT:AD:DP:GQ:PL	0/1:109,106:215:99:2678,0,2857	5	0	1	0
chr11	114400220	114400220	C	T	exonic	C11orf71	.	nonsynonymous SNV	C11orf71:NM_001271562:exon1:c.G112A:p.G38R,C11orf71:NM_019021:exon1:c.G112A:p.G38R	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.029585283342	.	.	0.0002	0	0.0003	0	0	0.0003	0.0026	0	0.0001488	23	154602	rs764017168	9.999e-05	9.987e-05	9.266e-05	0.0001	0.0005	8.656e-05	8.144e-05	0.0001	0.0001	0	0.0002	0.0023	0	0	0.0005	4.859e-05	0.0003	0	0.0001	0.0001	0.0001	9.412e-05	0.0003	7.575e-05	6.28e-05	8.876e-05	5.385e-05	0	0	0.0003	0.0014	0	0	0	0.0001	0	0	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.913	0.64886	D	0.000941	0.40932	D	0.000000	0.816593	0.81001	D	1.1	0.28011	L	.	.	.	-8.0	0.96495	D	0.765	0.76296	-0.7563	0.57604	T	0.197	0.55115	T	9	0.12735903	0.24220	T	0.029585	0.52069	D	0.246	0.55340	0.357	0.35897	0.237489013734	0.23353	0.25824059390836085	0.25738	1.28687267686	0.82678	.	.	.	0.132694	0.46294	T	0.0215756	0.54594	T	0.0779289	0.75440	D	0.298877000808716	0.24957	T	0.79532	0.43818	T	0.12394489	0.29092	0.26884446	0.52758	0.12394489	0.29092	0.26884446	0.52757	-3.393	0.15738	T	.	.	0.563	0.70105	A	.;.	.;.	4.866569	0.79681	27.2	0.9988474626750633	0.96049	0.28448	0.23557	N	ALL	0.286858	0.39914	N	0.262774517331979	0.54274	3.593339	0.202948981495784	0.50010	3.19765	0.999999999999937	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.96	4.05	0.46415	3.152000	0.50375	4.434000	0.43361	0.599000	0.40250	0.986000	0.36153	1.000000	0.68203	0.276000	0.23917	0.0:0.9022:0.0:0.0978	9.102	0.35835	787	0.46738	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001514	0.000000	0.001359	0.000000	0.050000	0.000000	0.003049	0.000000	0.08333	1259.83	37	chr11	114400220	.	C	T	1259.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.49;DP=264;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=1.62;SOR=0.711	GT:AD:DP:GQ:PL	0/1:41,46:87:99:1270,0,955	5	0	1	0
chr11	116820959	116820959	T	C	exonic	APOA4	.	nonsynonymous SNV	APOA4:NM_000482:exon3:c.A1099G:p.T367A	.	1	941	461	91	28	671	0.254653	.	.	.	1665716	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.0120121571706	.	0.000399361	0.0014	0.0002	0.0008	0.0001	0	0.0018	0.0044	0.0017	0.0012936	200	154602	rs675	0.0013	0.0013	0.0012	0.0014	0.0232	0.0012	0.0012	0.0200	0.0188	0.0010	0.0007	0.0024	0	7.49e-05	0.0232	0.0012	0.0016	0.0024	0.0009	0.0009	0.0010	0.0009	0.0017	0.0008	0.0008	0.0009	0.0009	0.0002	0.0242	0.0006	0.0032	0	0	0.0136	0.0011	0.0014	0.0017	0.414	0.10020	T	0.339	0.18071	T	.	.	.	.	.	.	0.407012	0.13048	N	0.640140	1	0.08975	N	.	.	.	-0.72	0.72994	T	0.21	0.04776	N	0.037	0.01135	-1.0196	0.23845	T	0.163	0.49881	T	10	0.00393337	0.00075	T	0.012012	0.30193	T	0.053	0.14996	.	.	0.202949470691	0.19918	0.06988835794818526	0.06926	0.0511132485683	0.05625	0.253537476063	0.04150	T	.	.	.	-0.580172	0.00192	T	-0.612629	0.11772	T	0.00288888462819159	0.00030	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.03162	B	.	.	0.562637	0.09313	6.093	0.56217289249236624	0.05505	0.01906	0.05837	N	AEFDBI	0.101439	0.20374	N	-1.04106067913846	0.07763	0.3617752	-1.0807239329008	0.08080	0.3957362	0.998166737742862	0.36515	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.7	0.012	0.13411	-0.211000	0.09336	0.239000	0.16284	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.176000	0.21171	0.0992:0.2603:0.282:0.3586	2.065	0.03382	492	0.76569	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08333	4378.09	168	chr11	116820959	.	T	C	4378.09	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.481;DP=465;ExcessHet=0.4139;FS=1.94;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=-1.193;SOR=0.581	GT:AD:DP:GQ:PL	0/1:61,85:146:99:2280,0,1593	5	0	1	0
chr11	116876309	116876309	C	T	exonic	SIK3	.	nonsynonymous SNV	SIK3:NM_001281749:exon8:c.G1039A:p.E347K,SIK3:NM_001366686:exon8:c.G1039A:p.E347K,SIK3:NM_025164:exon8:c.G1039A:p.E347K,SIK3:NM_001281748:exon9:c.G562A:p.E188K	.	425	1084	13	0	0	13	0.00596057	.	.	.	3547183	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.344	0.0651946556664	0.0004	0.000199681	0.0010	9.61e-05	0.0002	0.0001	0	0.0013	0.0033	0.0017	0.0009961	154	154602	rs45511502	0.0009	0.0009	0.0008	0.0010	0.0125	0.0008	0.0008	0.0102	0.0093	0.0004	0.0002	0.0024	2.519e-05	7.488e-05	0.0125	0.0008	0.0011	0.0023	0.0005	0.0005	0.0004	0.0005	0.0012	0.0004	0.0003	0.0005	0.0005	7.211e-05	0	6.531e-05	0.0029	0	0	0.0034	0.0007	0.0009	0.0012	0.02	0.65419	D	0.058	0.46182	T	.	.	.	.	.	.	0.018412	0.27490	U	0.165192	0.999998	0.81001	D	.	.	.	-0.56	0.71187	T	-2.84	0.59873	D	0.503	0.53532	-0.2987	0.75021	T	0.360	0.72224	T	10	0.024621636	0.00684	T	0.065195	0.69505	D	0.344	0.66582	.	.	0.515558578274	0.51199	0.5135045924885121	0.51272	.	.	0.539111375809	0.44319	T	.	.	.	-0.229747	0.16683	T	-0.109577	0.62645	T	0.0937818314898036	0.11659	T	0.945105	0.80045	D	0.25718024	0.48761	0.24344386	0.49789	0.21182832	0.43518	0.23781699	0.49087	-10.144	0.74769	D	.	.	0.131	0.28057	B	.;.	.;.	4.045876	0.59928	24.2	0.99842274804629649	0.92229	0.99476	0.96499	D	AEFDBI	0.856519	0.77377	D	0.375110434416318	0.60075	4.192729	0.493053468295821	0.67529	5.09618	0.999999999999694	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.59	5.59	0.84677	7.114000	0.76737	7.651000	0.63703	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	19.570	0.95403	487	0.76954	Ubiquitin-associated domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.010101	0.013587	0.005848	0.000000	0.008621	0.000000	0.000000	0.08333	482.83	33	chr11	116876309	.	C	T	482.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.436;DP=228;ExcessHet=0;FS=2.512;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=-1.632;SOR=0.524	GT:AD:DP:GQ:PL	0/1:27,21:48:99:493,0,724	5	0	1	0
chr11	117822716	117822716	G	A	exonic	FXYD2;FXYD6-FXYD2	.	nonsynonymous SNV	FXYD6-FXYD2:NM_001243598:exon7:c.C274T:p.R92W	.	1	1519	2	0	0	2	0.000657895	0	0.036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00450538121976	.	.	1.151e-05	0	0	0	0	1.976e-05	0	0	1.29e-05	2	154602	rs758335144	1.304e-05	1.505e-05	1.092e-05	1.519e-05	5.977e-05	8.34e-06	6.72e-06	9.9e-06	6.43e-06	5.977e-05	0	0	0	1.911e-05	0	1.35e-05	1.66e-05	0	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	0.990202	0.81001	N	.	.	.	-0.43	0.69657	T	.	.	.	0.269	0.30461	.	.	.	.	.	.	.	0.074183464	0.11306	T	0.004505	0.11063	T	.	.	.	.	0.419839959566	0.41604	.	.	0.313859155843	0.33679	.	.	.	.	.	.	-0.0131615	0.49821	T	-0.256682	0.49155	T	.	.	.	0.377862	0.09067	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.29588	B	.	.	-0.102591	0.03625	0.718	0.87744881673334107	0.17450	0.01653	0.05307	N	AEFBCI	0.099496	0.20027	N	.	.	.	.	.	.	0.999889131429505	0.44867	0.554377	0.28877	0	0.588066	0.40923	0	0.550215	0.18615	0	0.631631	0.49550	0	.	.	4.35	-3.21	0.04823	-1.243000	0.03015	-1.313000	0.05742	-1.714000	0.00739	0.000000	0.06391	0.000000	0.08366	0.225000	0.22599	0.5231:0.0:0.3342:0.1427	4.634	0.11902	835	0.38313	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	621.83	36	chr11	117822716	.	G	A	621.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.048;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.738;SOR=0.553	GT:AD:DP:GQ:PL	0/1:25,25:50:99:632,0,658	5	0	1	0
chr11	120137438	120137438	A	-	exonic	TRIM29	.	frameshift deletion	TRIM29:NM_012101:exon1:c.594delT:p.L199Sfs*60	.	418	1102	1	1	0	3	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	968.79	41	chr11	120137437	.	GA	G	968.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.391;DP=237;ExcessHet=0;FS=2.388;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19;ReadPosRankSum=-0.805;SOR=0.654	GT:AD:DP:GQ:PL	0/1:23,28:51:99:979,0,775	5	0	1	0
chr11	121145622	121145622	G	C	exonic	TBCEL-TECTA;TECTA	.	nonsynonymous SNV	TECTA:NM_005422:exon12:c.G3611C:p.G1204A,TBCEL-TECTA:NM_001378761:exon18:c.G4568C:p.G1523A	.	0	1518	4	0	0	4	0.00131579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.651	0.0393134608691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.35349	T	0.0	0.92824	D	0.958	0.54977	D	0.681	0.53500	P	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	2.545	0.74286	M	0.02	0.62318	T	-4.29	0.76414	D	0.958	0.96758	-0.3133	0.74612	T	0.363	0.72445	T	10	0.94667697	0.93995	D	0.039313	0.58739	D	0.651	0.86836	0.81	0.92650	0.908294157706	0.90738	0.8901236702241564	0.88982	1.0383659396	0.75692	0.670106768608	0.62853	T	0.452386	0.79273	T	0.308438	0.83629	D	0.205274	0.83415	D	0.985397040843964	0.76401	D	0.872813	0.58002	D	0.66137433	0.75972	0.73189837	0.84157	0.66137433	0.75974	0.73189837	0.84158	-7.984	0.60961	D	0.5982470024867442	0.66519	0.789	0.77807	P	.;.;.	.;.;.	4.904609	0.80643	27.4	0.99730818912589081	0.82761	0.98144	0.79977	D	AEFDBI	0.918573	0.88782	D	0.776472679587892	0.84613	8.337446	0.80134446988279	0.89884	10.164	0.999998439377934	0.74766	0.553676	0.25195	0	0.563428	0.19063	0	0.608075	0.38828	0	0.620846	0.47308	0	.	.	5.87	5.87	0.94266	8.002000	0.88029	11.814000	0.97026	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.194	0.98239	768	0.49510	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1454.83	34	chr11	121145622	.	G	C	1454.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.487;DP=300;ExcessHet=0;FS=1.541;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=0.157;SOR=0.926	GT:AD:DP:GQ:PL	0/1:59,52:111:99:1465,0,1629	5	0	1	0
chr11	130126747	130126747	A	C	exonic	APLP2	.	nonsynonymous SNV	APLP2:NM_001142278:exon4:c.A451C:p.T151P,APLP2:NM_001382546:exon4:c.A451C:p.T151P,APLP2:NM_001382539:exon6:c.A796C:p.T266P,APLP2:NM_001382540:exon6:c.A796C:p.T266P,APLP2:NM_001382541:exon6:c.A682C:p.T228P,APLP2:NM_001382542:exon6:c.A670C:p.T224P,APLP2:NM_001382543:exon6:c.A682C:p.T228P,APLP2:NM_001382545:exon6:c.A682C:p.T228P,APLP2:NM_001142277:exon7:c.A970C:p.T324P,APLP2:NM_001328682:exon7:c.A970C:p.T324P,APLP2:NM_001328685:exon7:c.A970C:p.T324P,APLP2:NM_001382533:exon7:c.A964C:p.T322P,APLP2:NM_001382534:exon7:c.A970C:p.T324P,APLP2:NM_001382535:exon7:c.A985C:p.T329P,APLP2:NM_001382536:exon7:c.A964C:p.T322P,APLP2:NM_001382537:exon7:c.A970C:p.T324P,APLP2:NM_001382538:exon7:c.A850C:p.T284P,APLP2:NM_001142276:exon8:c.A1138C:p.T380P,APLP2:NM_001243299:exon8:c.A1168C:p.T390P,APLP2:NM_001328684:exon8:c.A1138C:p.T380P,APLP2:NM_001328686:exon8:c.A1039C:p.T347P,APLP2:NM_001382526:exon8:c.A1138C:p.T380P,APLP2:NM_001382527:exon8:c.A1138C:p.T380P,APLP2:NM_001382528:exon8:c.A1153C:p.T385P,APLP2:NM_001382529:exon8:c.A1138C:p.T380P,APLP2:NM_001382530:exon8:c.A1138C:p.T380P,APLP2:NM_001382531:exon8:c.A1006C:p.T336P,APLP2:NM_001382532:exon8:c.A1039C:p.T347P,APLP2:NM_001642:exon8:c.A1138C:p.T380P	.	.	.	.	.	.	.	.	.	.	.	4001634	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.373	0.064716279829	.	.	8.236e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs775513233	9.577e-06	9.577e-06	8.167e-06	1.1e-05	3.478e-05	5.56e-06	4.35e-06	9.24e-06	4.56e-06	0	0	0	0	0	0	8.993e-06	1.656e-05	3.478e-05	1.315e-05	1.314e-05	1.286e-05	1.346e-05	2.416e-05	2.19e-06	8.2e-07	.	.	2.416e-05	0	0	0	0	0	0	1.47e-05	0	0	0.021	0.56456	D	0.015	0.72224	D	0.997	0.77913	D	0.936	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.395	0.35261	L	0.92	0.44461	T	-2.8	0.63438	D	0.624	0.63883	-0.5602	0.66396	T	0.255	0.62473	T	10	0.7485805	0.75468	D	0.064716	0.69360	D	0.373	0.69188	.	.	0.573403979865	0.57007	0.4848966730365046	0.48409	0.544725754754	0.51518	0.668199181557	0.62581	T	0.358713	0.72523	T	0.162582	0.70439	D	0.092616	0.76420	D	0.961297273635864	0.66042	D	0.890411	0.67021	D	0.89043593	0.90545	0.73023474	0.84060	0.89043593	0.90546	0.73023474	0.84061	-10.608	0.78951	D	.	.	0.640	0.78046	P	.;.;.;.;.;.	.;.;.;.;.;.	4.776212	0.77372	26.7	0.9973839806478596	0.83337	0.98519	0.83646	D	AEFDBI	0.975266	0.99609	D	0.690935549125868	0.79039	6.994156	0.679894129336637	0.80854	7.392418	0.999999997930384	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.39	5.39	0.77615	6.960000	0.75832	11.185000	0.88454	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.586	0.67920	586	0.69252	Amyloidogenic glycoprotein, E2 domain;.;Amyloidogenic glycoprotein, E2 domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1022.83	36	chr11	130126747	.	A	C	1022.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.332;DP=283;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.47;ReadPosRankSum=-0.432;SOR=0.736	GT:AD:DP:GQ:PL	0/1:62,46:108:99:1033,0,1508	5	0	1	0
chr11	134249854	134249854	C	A	exonic	THYN1	.	stopgain	THYN1:NM_014174:exon4:c.G358T:p.E120X,THYN1:NM_001037304:exon5:c.G358T:p.E120X,THYN1:NM_001037305:exon5:c.G358T:p.E120X,THYN1:NM_199297:exon5:c.G358T:p.E120X,THYN1:NM_199298:exon5:c.G358T:p.E120X	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	5.768e-05	0	0	0	0	8.996e-05	0.0011	0	4.53e-05	7	154602	rs374823032	3.694e-05	3.694e-05	3.267e-05	4.125e-05	1.619e-05	2.894e-05	2.592e-05	1.012e-05	8.35e-06	0	0	0.0010	0	0	0	1.619e-05	0.0002	0	5.91e-05	5.905e-05	3.855e-05	8.058e-05	4.41e-05	3.076e-05	2.209e-05	1.171e-05	6.25e-06	0	0	0	0.0012	0	0	0.0034	4.41e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000472	0.44119	D	0.255709	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.416	0.45615	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.504261	0.94428	D	0.61701	0.97470	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;Recessive;.	High;High;High;.	8.181803	0.97268	37	0.99686159943244956	0.79574	0.94569	0.61593	D	AEFBI	0.108153	0.21524	N	0.643573383462916	0.75954	6.398037	0.46714893464159	0.65827	4.873054	0.999987640344917	0.51787	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.33	2.1	0.26226	2.860000	0.48071	1.274000	0.25309	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.5788:0.4212:0.0	15.662	0.76952	856	0.34373	EVE domain;EVE domain;EVE 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	.	.	.	.	.	.	.	.	0.08333	1114.83	35	chr11	134249854	.	C	A	1114.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.244;DP=288;ExcessHet=0;FS=1.597;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=-2.183;SOR=0.876	GT:AD:DP:GQ:PL	0/1:53,47:100:99:1125,0,1347	5	0	1	0
chr12	4626804	4626804	A	0	exonic	AKAP3	.	.	.	.	433	800	251	33	5	322	0.165363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1941.98	113	chr12	4626804	.	A	*	1941.98	.	AC=2;AF=0.167;AN=12;DP=620;ExcessHet=0;FS=0.544;MLEAC=2;MLEAF=0.167;MQ=60;QD=8.33;SOR=0.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,58:120:99:0|1:4626799_T_TC:2172,0,2404:4626799	4	0	2	0
chr12	7130691	7130691	G	T	exonic	CLSTN3	.	nonsynonymous SNV	CLSTN3:NM_014718:exon1:c.G43T:p.A15S	.	423	1033	61	5	0	71	0.0332241	.	.	.	3547150	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.021	.	0.0036	0.00658946	0.0098	0.0103	0.0129	0	0	0.0058	0.0121	0.0176	0.0033182	513	154602	rs145190321	0.0031	0.0031	0.0027	0.0036	0.0178	0.0030	0.0030	0.0148	0.0142	0.0076	0.0043	0.0093	0.0001	0.0002	0.0178	0.0019	0.0055	0.0152	0.0044	0.0044	0.0046	0.0042	0.0143	0.0041	0.0040	0.0116	0.0106	0.0080	0.0011	0.0049	0.0095	0.0002	0.0002	0.0204	0.0020	0.0057	0.0143	0.442	0.10148	T	0.415	0.14326	T	0.001	0.07471	B	0.002	0.06944	B	0.548015	0.11466	N	0.788204	1	0.08975	N	-0.895	0.01383	N	2.12	0.19726	T	0.07	0.07736	N	0.139	0.13769	-1.0680	0.09858	T	0.021	0.08778	T	10	0.0030443072	0.00050	T	.	.	.	0.021	0.04004	.	.	0.281547015583	0.27767	0.35854401661910473	0.35768	0.288253582573	0.31233	0.356690347195	0.18903	T	0.008913	0.23664	T	-0.598821	0.00148	T	-0.620618	0.11137	T	0.00108617581757987	0.00010	T	0.331367	0.07351	T	0.055753954	0.10880	0.04894971	0.07378	0.055753954	0.10879	0.04894971	0.07378	-3.093	0.11216	T	.	.	0.066	0.03887	B	.;.	.;.	0.665902	0.10342	7.072	0.62287856607396397	0.06924	0.12591	0.17362	N	AEFDGBCI	0.044641	0.07208	N	-1.19660380079444	0.05051	0.2293829	-1.15269521724595	0.06719	0.3243835	0.999999929559777	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.554799	0.18163	0	.	.	4.77	2.93	0.33092	0.670000	0.24838	1.292000	0.25419	-0.941000	0.02090	0.027000	0.20232	0.033000	0.21346	0.022000	0.11911	0.0:0.7049:0.193:0.1021	6.560	0.21676	668	0.61153	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013388	0.027174	0.010959	0.017647	0.000000	0.035088	0.006289	0.015267	0.08333	643.83	34	chr12	7130691	.	G	T	643.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.36;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=0.803;SOR=0.693	GT:AD:DP:GQ:PL	0/1:23,23:46:99:654,0,520	5	0	1	0
chr12	9153262	9153262	C	T	exonic	PZP	.	nonsynonymous SNV	PZP:NM_002864:exon30:c.G3856A:p.V1286I	.	203	1317	2	0	0	2	0.000758725	.	.	.	3898280	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.026	0.0021764472071	0.0005	0.000998403	0.0004	0.0012	0.0002	0	0	0.0001	0.0011	0.0012	0.0003363	52	154602	rs151314973	0.0002	0.0002	0.0002	0.0002	0.0016	0.0002	0.0002	0.0013	0.0012	0.0016	6.708e-05	3.826e-05	0	1.872e-05	0.0010	6.925e-05	0.0003	0.0014	0.0005	0.0005	0.0005	0.0005	0.0015	0.0004	0.0004	0.0010	0.0009	0.0013	0	6.533e-05	0	0.0002	0	0.0034	0.0002	0.0005	0.0015	1.0	0.00964	T	1.0	0.01155	T	0.005	0.12996	B	0.003	0.08700	B	0.787056	0.09426	N	0.874660	1	0.08975	N	-0.59	0.02258	N	1.46	0.32238	T	0.4	0.03463	N	0.095	0.07535	-0.9564	0.39843	T	0.028	0.11838	T	10	0.005659014	0.00126	T	0.002176	0.04071	T	0.026	0.05648	.	.	0.0482279557977	0.04254	0.10446644774210533	0.10376	0.0677636181319	0.07582	0.282418996096	0.07832	T	0.047369	0.27703	T	-0.644746	0.00078	T	-0.734288	0.04136	T	0.00978835151630842	0.00129	T	0.524848	0.17228	T	0.0227124	0.00953	0.03842105	0.03707	0.0227124	0.00953	0.03842105	0.03706	-0.939	0.00934	T	.	.	0.056	0.00505	B	.	.	-0.366866	0.02340	0.252	0.29264151125153176	0.01543	0.00573	0.02594	N	AEFGBI	0.069735	0.13816	N	-1.85541208208297	0.00423	0.01820646	-1.84637992383341	0.00622	0.02763785	0.115833725367925	0.16765	0.549168	0.22868	0	0.55458	0.17659	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	3.92	-4.19	0.03573	-0.320000	0.08070	-6.121000	0.01490	-1.889000	0.00535	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6796:0.0:0.3204	14.186	0.65144	618	0.66225	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	950.83	40	chr12	9153262	.	C	T	950.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.15;DP=281;ExcessHet=0;FS=1.992;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-0.021;SOR=0.446	GT:AD:DP:GQ:PL	0/1:37,38:75:99:961,0,909	5	0	1	0
chr12	12079577	12079577	C	T	exonic	BCL2L14	.	nonsynonymous SNV	BCL2L14:NM_030766:exon2:c.C272T:p.S91F,BCL2L14:NM_138722:exon2:c.C272T:p.S91F,BCL2L14:NM_138723:exon2:c.C272T:p.S91F,BCL2L14:NM_001370268:exon3:c.C272T:p.S91F,BCL2L14:NM_001370269:exon4:c.C272T:p.S91F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.0150532298044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.63226	D	0.0	0.92824	D	0.923	0.51194	P	0.504	0.47761	P	0.342260	0.13944	N	0.699702	0.649143	0.30767	N	1.975	0.53506	M	.	.	.	-3.92	0.73151	D	0.147	0.31702	-0.8614	0.51162	T	0.124	0.42715	T	8	0.14726964	0.27908	T	0.015053	0.35554	T	0.058	0.16647	0.329	0.31357	0.663349024458	0.66052	0.09272633789937687	0.09204	0.137095995171	0.15461	0.356887280941	0.18931	T	0.024125	0.40663	T	-0.127095	0.31967	T	-0.42034	0.31036	T	0.741057157516479	0.42794	D	.	.	.	0.086640045	0.20147	0.11554052	0.27891	0.086640045	0.20146	0.11554052	0.27890	-4.493	0.34847	T	.	.	0.258	0.52410	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.966546	0.39528	21.0	0.99690068847889501	0.79842	0.27384	0.23262	N	AEFDGBIJ	0.108912	0.21650	N	-0.129043300615446	0.36131	2.084401	-0.176944933523005	0.32385	1.842022	0.0287265827069164	0.13848	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.81	1.92	0.24912	0.781000	0.26435	1.890000	0.29511	0.599000	0.40250	0.624000	0.27948	0.006000	0.19429	0.979000	0.57723	0.2231:0.6591:0.0:0.1178	4.376	0.10704	956	0.09877	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	831.83	39	chr12	12079577	.	C	T	831.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.007;DP=260;ExcessHet=0;FS=5.516;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.79;ReadPosRankSum=-1.131;SOR=0.634	GT:AD:DP:GQ:PL	0/1:48,37:85:99:842,0,1306	5	0	1	0
chr12	30726042	30726042	G	C	exonic	CAPRIN2	.	nonsynonymous SNV	CAPRIN2:NM_001385538:exon7:c.C761G:p.P254R,CAPRIN2:NM_001385543:exon7:c.C761G:p.P254R,CAPRIN2:NM_001319842:exon8:c.C830G:p.P277R,CAPRIN2:NM_001385528:exon8:c.C830G:p.P277R,CAPRIN2:NM_001385531:exon8:c.C830G:p.P277R,CAPRIN2:NM_001385537:exon8:c.C830G:p.P277R,CAPRIN2:NM_001385541:exon8:c.C830G:p.P277R,CAPRIN2:NM_001385544:exon8:c.C761G:p.P254R,CAPRIN2:NM_001385546:exon8:c.C761G:p.P254R,CAPRIN2:NM_001385547:exon8:c.C830G:p.P277R,CAPRIN2:NM_001385548:exon8:c.C830G:p.P277R,CAPRIN2:NM_001385550:exon8:c.C830G:p.P277R,CAPRIN2:NM_001002259:exon9:c.C1829G:p.P610R,CAPRIN2:NM_001206856:exon9:c.C1829G:p.P610R,CAPRIN2:NM_001319843:exon9:c.C1829G:p.P610R,CAPRIN2:NM_001385498:exon9:c.C1829G:p.P610R,CAPRIN2:NM_001385499:exon9:c.C1829G:p.P610R,CAPRIN2:NM_001385500:exon9:c.C1829G:p.P610R,CAPRIN2:NM_001385516:exon9:c.C1829G:p.P610R,CAPRIN2:NM_001385518:exon9:c.C1829G:p.P610R,CAPRIN2:NM_001385529:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385532:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385533:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385534:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385539:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385540:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385542:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385545:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385549:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385551:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385552:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385553:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385554:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385557:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385559:exon9:c.C830G:p.P277R,CAPRIN2:NM_023925:exon9:c.C1829G:p.P610R,CAPRIN2:NM_032156:exon9:c.C1829G:p.P610R,CAPRIN2:NM_001319844:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001319845:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001319846:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385501:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385502:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385503:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385504:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385505:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385506:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385507:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385508:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385509:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385510:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385511:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385512:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385513:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385514:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385515:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385519:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385520:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385521:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385522:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385523:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385524:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385525:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385526:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385527:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385535:exon10:c.C1586G:p.P529R	.	436	1007	74	5	0	84	0.0400381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	.	0.0062	0.0111821	0.0092	0.0008	0.0064	0	0.0041	0.0086	0.0188	0.0251	0.0086092	1331	154602	rs73079976	0.0075	0.0076	0.0068	0.0082	0.0250	0.0074	0.0073	0.0228	0.0225	0.0009	0.0059	0.0069	2.561e-05	0.0043	0.0250	0.0068	0.0083	0.0237	0.0062	0.0062	0.0061	0.0064	0.0255	0.0059	0.0058	0.0218	0.0204	0.0012	0	0.0109	0.0101	0.0002	0.0027	0.0340	0.0075	0.0142	0.0255	0.007	0.72154	D	0.012	0.69154	D	1.0	0.90584	D	1.0	0.97372	D	0.000820	0.41658	D	0.244148	0.870816	0.39633	D	2.175	0.60977	M	1.72	0.80301	T	-4.19	0.76822	D	0.718	0.76481	0.305	0.87642	D	0.569	0.84399	D	10	0.0067775548	0.00154	T	.	.	.	0.205	0.49236	.	.	0.648614416266	0.64569	0.5195242696993202	0.51875	0.359186557532	0.37614	0.546116471291	0.45309	T	0.181502	0.53319	T	-0.0767919	0.40235	T	0.135171	0.79231	D	0.0256440277215045	0.01358	T	0.950705	0.86917	D	.	.	.	.	.	.	.	.	-13.034	0.89503	D	.	.	0.856	0.83681	P	.;.;.;.;.	.;.;.;.;.	4.065732	0.60367	24.2	0.99821863177600145	0.90502	0.62678	0.31854	D	ALL	0.618364	0.60420	D	0.593248100385037	0.72752	5.855505	0.574672674676995	0.73129	5.920273	1.0	0.98316	0.730579	0.87903	0	0.633656	0.55848	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.62	4.72	0.59248	3.892000	0.55947	7.436000	0.58833	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.864:0.136	15.950	0.79616	917	0.20147	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	355.83	35	chr12	30726042	.	G	C	355.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.159;DP=226;ExcessHet=0;FS=1.15;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.57;ReadPosRankSum=0.175;SOR=0.927	GT:AD:DP:GQ:PL	0/1:29,18:47:99:366,0,698	5	0	1	0
chr12	31398219	31398219	G	A	exonic	DENND5B	.	nonsynonymous SNV	DENND5B:NM_144973:exon17:c.C3212T:p.T1071M,DENND5B:NM_001308339:exon19:c.C3317T:p.T1106M	.	438	1083	0	1	0	2	0.000922509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00312527890632	.	.	.	.	.	.	.	.	.	.	.	.	.	rs989124346	1.101e-05	1.436e-05	9.571e-06	1.247e-05	4.755e-05	6.52e-06	5.28e-06	1.61e-05	9.48e-06	2.999e-05	0	0	0	0	0	9.927e-06	0	4.755e-05	1.977e-05	1.971e-05	2.574e-05	1.35e-05	4.844e-05	5.26e-06	2.46e-06	8.03e-06	3e-06	4.844e-05	0	0	0	0	0	0	1.471e-05	0	0	0.254	0.17468	T	0.161	0.31326	T	0.004	0.14184	B	0.004	0.14941	B	0.194766	0.03276	N	1.790640	1	0.08975	N	0.55	0.14455	N	3.73	0.03982	T	-0.97	0.25770	N	0.102	0.08506	-0.9441	0.41960	T	0.009	0.03011	T	10	0.040650755	0.02652	T	0.003125	0.06786	T	0.010	0.01040	0.272	0.22210	0.161926535498	0.15789	0.19914258509803862	0.19831	0.555580429319	0.52254	0.253512769938	0.04147	T	0.003789	0.05891	T	-0.330717	0.06058	T	-0.712828	0.05150	T	0.020037278911541	0.00704	T	0.782022	0.41734	T	0.014500451	0.00096	0.02099464	0.00167	0.014500451	0.00095	0.02099464	0.00167	-3.207	0.12567	T	.	.	0.055	0.00890	B	.;.	.;.	1.076322	0.14590	11.15	0.73550239353847002	0.10369	0.06075	0.12048	N	AEFBI	0.092129	0.18654	N	-1.24885924815114	0.04315	0.1944942	-1.24618857449906	0.05187	0.2465778	9.46925864206247E-5	0.04910	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	4.25	-0.114	0.12903	0.936000	0.28536	0.919000	0.22689	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.404000	0.26872	0.4028:0.1288:0.4684:0.0	5.747	0.17396	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	472.83	31	chr12	31398219	.	G	A	472.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.092;DP=178;ExcessHet=0;FS=3.927;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.51;ReadPosRankSum=-0.611;SOR=0.201	GT:AD:DP:GQ:PL	0/1:8,19:27:99:483,0,154	5	0	1	0
chr12	31984133	31984133	A	G	exonic	RESF1	.	nonsynonymous SNV	RESF1:NM_018169:exon4:c.A3178G:p.K1060E	.	433	1073	16	0	0	16	0.00740056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	0.0020	0.00299521	0.0058	0.0004	0.0010	0	0.0106	0.0040	0.0121	0.0210	0.0051164	791	154602	rs78737813	0.0041	0.0041	0.0035	0.0047	0.0212	0.0040	0.0040	0.0204	0.0201	0.0004	0.0010	0.0003	0.0002	0.0104	0.0056	0.0030	0.0039	0.0212	0.0029	0.0029	0.0024	0.0035	0.0189	0.0027	0.0026	0.0157	0.0146	0.0002	0	0.0007	0.0006	0	0.0093	0	0.0034	0.0019	0.0189	0.046	0.40573	D	0.074	0.42976	T	0.323	0.33082	B	0.073	0.28123	B	0.043789	0.23704	N	0.402050	0.995831	0.23188	N	1.75	0.45442	L	1.95	0.22474	T	-2.92	0.61129	D	0.354	0.39558	-1.0521	0.13818	T	0.040	0.17106	T	9	0.007663965	0.00174	T	.	.	.	0.026	0.05648	.	.	0.154104182512	0.14974	0.4312716726819004	0.43044	0.024555667794	0.02494	0.361968308687	0.19672	T	0.025851	0.19251	T	-0.541556	0.00328	T	-0.533765	0.18912	T	0.0211425865757909	0.00816	T	0.577942	0.20808	T	0.23973441	0.46867	0.2556322	0.51248	0.23973441	0.46867	0.2556322	0.51248	-3.872	0.21884	T	.	.	0.121	0.25265	B	.	.	3.033385	0.40645	21.2	0.99732809263607347	0.82904	0.43146	0.27034	N	AEFGBCI	0.037849	0.05269	N	-0.191140723612157	0.33502	1.901415	-0.104619187741372	0.35204	2.033924	0.999139062489065	0.38535	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.57	2.89	0.32713	1.101000	0.30650	4.663000	0.44246	0.756000	0.94297	0.992000	0.37556	1.000000	0.68203	0.957000	0.51019	0.7627:0.0:0.2373:0.0	8.287	0.31097	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.006793	0.002924	0.000000	0.000000	0.000000	0.018939	0.08333	984.83	64	chr12	31984133	.	A	G	984.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.45;DP=394;ExcessHet=0;FS=2.587;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.12;ReadPosRankSum=0.541;SOR=1.037	GT:AD:DP:GQ:PL	0/1:67,41:108:99:995,0,1703	5	0	1	0
chr12	39764776	39764776	G	C	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528G:p.L510V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0443433292116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.747e-06	0.0002	4.1e-06	1.38e-06	3.612e-06	6.4e-07	4.3e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.462	0.12526	T	0.374	0.34192	B	0.326	0.41929	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.89	0.74793	T	-0.46	0.14978	N	0.564	0.58798	-0.6019	0.64739	T	0.322	0.69134	T	10	0.51726407	0.62438	D	0.044343	0.61442	D	0.252	0.56159	0.421	0.46365	0.695003275107	0.69237	0.8554796860303294	0.85510	0.415926434887	0.42235	0.617287814617	0.55346	T	0.14097	0.47579	T	0.161933	0.70380	D	-0.00517021	0.70000	D	0.952465236186981	0.63797	D	0.912409	0.68863	D	0.25600496	0.48637	0.19588253	0.43288	0.25600496	0.48637	0.19588253	0.43287	-8.267	0.62875	D	.	.	0.147	0.32493	B	.	.	3.372480	0.46612	22.3	0.9975783521054008	0.84772	0.94008	0.59836	D	AEFCI	0.740830	0.68496	D	0.145500679544335	0.48600	3.070197	0.293165215121814	0.55141	3.677321	0.998323112009773	0.36758	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	5.39	0.77615	4.252000	0.58574	11.595000	0.93433	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.172	0.93569	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	582.61	32	chr12	39764776	.	G	C	582.61	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.452;DP=279;ExcessHet=6.1542;FS=487.012;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.68;ReadPosRankSum=0.852;SOR=9.49	GT:AD:DP:GQ:PL	0/1:18,15:33:55:55,0,229	1	0	5	0
chr12	40484730	40484730	T	C	exonic	MUC19	.	unknown	UNKNOWN	.	549	970	2	1	0	4	0.00205761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs549013865	3.843e-05	2.738e-05	4.911e-05	2.6e-05	0.0016	2.781e-05	2.379e-05	0.0012	0.0010	0	0	0	0	0	0.0006	2.627e-06	7.329e-05	0.0016	5.26e-05	5.252e-05	2.573e-05	8.067e-05	0.0017	2.558e-05	1.831e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	7249.83	660	chr12	40484730	.	T	C	7249.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.569;DP=5152;ExcessHet=0;FS=2.432;MLEAC=1;MLEAF=0.083;MQ=59.71;MQRankSum=-0.283;QD=11.44;ReadPosRankSum=3.32;SOR=0.873	GT:AD:DP:GQ:PL	0/1:348,286:634:99:7260,0,7901	5	0	1	0
chr12	40485277	40485277	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	543	977	2	0	0	2	0.00102249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00339457	.	.	.	.	.	.	.	.	0.0009605	25	26028	rs573658247	0.0003	0.0002	0.0003	0.0003	0.0121	0.0003	0.0002	0.0107	0.0102	0.0121	0	0	0.0003	0	0	4.072e-05	0.0004	0	0.0032	0.0032	0.0033	0.0030	0.0111	0.0029	0.0028	0.0102	0.0099	0.0111	0	0.0008	0	0	0	0	5.879e-05	0.0019	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	.	.	.	.	.	.	.	.	0.08333	4807.83	751	chr12	40485277	.	G	A	4807.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.341;DP=4191;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=58.27;MQRankSum=5.74;QD=8.43;ReadPosRankSum=-1.39;SOR=0.728	GT:AD:DP:GQ:PL	0/1:369,201:570:99:4818,0,13871	5	0	1	0
chr12	40486506	40486506	A	0	exonic	MUC19	.	.	.	.	600	654	129	2	137	270	0.092297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	4965.01	732	chr12	40486506	.	A	*	4965.01	.	AC=5;AF=0.417;AN=12;BaseQRankSum=2.78;DP=5361;ExcessHet=11.5949;FS=17.554;MLEAC=5;MLEAF=0.417;MQ=58.42;MQRankSum=-13.14;QD=1.05;ReadPosRankSum=-1.393;SOR=1.459	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:474,161:635:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:5415,0,19310:40486484	1	0	5	0
chr12	40486507	40486507	G	0	exonic	MUC19	.	.	.	.	596	657	130	2	137	271	0.0925414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	4962.01	732	chr12	40486507	.	G	*	4962.01	.	AC=5;AF=0.417;AN=12;BaseQRankSum=5.4;DP=5358;ExcessHet=11.5949;FS=17.554;MLEAC=5;MLEAF=0.417;MQ=58.42;MQRankSum=-13.16;QD=1.05;ReadPosRankSum=-1.443;SOR=1.458	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:474,161:635:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:5415,0,19310:40486484	1	0	5	0
chr12	40486514	40486514	G	0	exonic	MUC19	.	.	.	.	645	616	122	2	137	263	0.0927835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	4473.01	732	chr12	40486514	.	G	*	4473.01	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.1;DP=5372;ExcessHet=11.5949;FS=17.567;MLEAC=5;MLEAF=0.417;MQ=58.43;MQRankSum=-13.92;QD=0.95;ReadPosRankSum=-3.436;SOR=1.453	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:474,161:635:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:5415,0,19310:40486484	1	0	5	0
chr12	40487422	40487422	-	CC	exonic	MUC19	.	unknown	UNKNOWN	.	529	936	57	0	0	57	0.029549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1289899653	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0042	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	0.0001	0.0001	0	0.0003	0	0.0002	0	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	363.79	691	chr12	40487422	.	A	ACC	363.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.744;DP=4849;ExcessHet=0;FS=9.626;MLEAC=1;MLEAF=0.083;MQ=58;MQRankSum=-23.23;QD=0.52;ReadPosRankSum=1.93;SOR=1.997	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:643,55:698:99:0|1:40487422_A_ACC:374,0,26698:40487422	5	0	1	0
chr12	40487424	40487424	-	CAGGTGTAGTGACAGGGACAACTGGCCC	exonic	MUC19	.	unknown	UNKNOWN	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.211e-06	9.603e-06	2.25e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0003	0.0073	0.0003	0.0004	0.0005	0.0003	0.0002	0.0003	0.0002	0.0002	0	0.0005	0	0.0003	0.0005	0	0.0004	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	14265.8	784	chr12	40487424	.	T	TCAGGTGTAGTGACAGGGACAACTGGCCC	14265.8	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.854;DP=5239;ExcessHet=11.5949;FS=9.249;MLEAC=5;MLEAF=0.417;MQ=56.7;MQRankSum=-17.81;QD=3.6;ReadPosRankSum=6.38;SOR=2.906	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:639,67:706:99:0|1:40487422_A_ACC:890,0,26589:40487422	1	0	5	0
chr12	40487442	40487442	-	GCT	exonic	MUC19	.	unknown	UNKNOWN	.	529	895	98	0	0	98	0.0519068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1210301375	1.2e-06	8.209e-06	2.23e-06	0	0.0009	0	0	.	.	0	0.0009	0	0	0	0	0	0	0	0.0006	0.0058	0.0005	0.0008	0.0009	0.0005	0.0005	0.0005	0.0005	0.0004	0	0.0009	0	0.0006	0.0011	0	0.0007	0.0010	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	417.79	816	chr12	40487442	.	G	GGCT	417.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.854;DP=4998;ExcessHet=0;FS=1.006;MLEAC=1;MLEAF=0.083;MQ=57.86;MQRankSum=-23.32;QD=0.6;ReadPosRankSum=-1.697;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:637,58:695:99:0|1:40487422_A_ACC:428,0,26096:40487422	5	0	1	0
chr12	40487443	40487443	-	CCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	exonic	MUC19	.	unknown	UNKNOWN	.	536	681	142	0	163	305	0.0944149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.209e-06	8.913e-06	2.247e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0009	0.0080	0.0007	0.0011	0.0013	0.0007	0.0007	0.0007	0.0007	0.0006	0	0.0013	0	0.0009	0.0016	0	0.0010	0.0013	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	12638.8	777	chr12	40487443	.	A	ACCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	12638.8	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-3.656;DP=5154;ExcessHet=11.5949;FS=11.854;MLEAC=5;MLEAF=0.417;MQ=56.84;MQRankSum=-22.75;QD=2.71;ReadPosRankSum=-2.795;SOR=2.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:628,57:685:99:0|1:40487422_A_ACC:409,0,25725:40487422	1	0	5	0
chr12	40509053	40509053	T	A	exonic	MUC19	.	unknown	UNKNOWN	.	561	887	71	3	0	77	0.0415991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796340531	3.486e-05	0.0002	3.413e-05	3.563e-05	.	5.78e-06	2.16e-06	.	.	0	0	0	0	0.0004	0	0	0	0	5.923e-05	0.0006	5.149e-05	6.731e-05	0.0002	3.081e-05	2.213e-05	6.279e-05	4.297e-05	0.0001	0	0.0002	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	.	.	.	.	.	.	.	.	0.3	531.59	126	chr12	40509053	.	T	A	531.59	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.534;DP=619;ExcessHet=1.383;FS=1.363;MLEAC=3;MLEAF=0.3;MQ=59.17;MQRankSum=-9.247;QD=1.45;ReadPosRankSum=2.63;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,7:87:53:0|1:40509053_T_A:53,0,3338:40509053	2	0	3	1
chr12	40509056	40509056	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	559	887	73	3	0	79	0.0426336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1305621476	1.742e-05	0.0002	0	3.572e-05	.	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	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	.	.	.	.	.	.	.	.	0.3	525.59	126	chr12	40509056	.	G	A	525.59	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.68;DP=619;ExcessHet=1.383;FS=1.363;MLEAC=3;MLEAF=0.3;MQ=59.21;MQRankSum=-9.247;QD=1.43;ReadPosRankSum=2.51;SOR=0.839	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,7:87:53:0|1:40509053_T_A:53,0,3338:40509053	2	0	3	1
chr12	40509061	40509061	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	557	891	71	3	0	77	0.0414201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1348486958	3.908e-05	0.0002	3.806e-05	4.015e-05	2.421e-05	6.48e-06	2.42e-06	.	.	0	0	0	0	0.0002	0	2.421e-05	0	0	9.211e-05	0.0006	9.011e-05	9.421e-05	0.0003	5.535e-05	4.37e-05	0.0001	0.0001	0.0003	0	0.0002	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	.	.	.	.	.	.	.	.	0.3	520.59	127	chr12	40509061	.	G	C	520.59	.	AC=3;AF=0.3;AN=10;BaseQRankSum=0.095;DP=617;ExcessHet=1.383;FS=0.65;MLEAC=3;MLEAF=0.3;MQ=59.24;MQRankSum=-9.192;QD=1.44;ReadPosRankSum=2.33;SOR=0.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,7:86:56:0|1:40509053_T_A:56,0,3296:40509053	2	0	3	1
chr12	40509062	40509062	A	C	exonic	MUC19	.	unknown	UNKNOWN	.	557	890	72	3	0	78	0.0419806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1239171133	3.865e-05	0.0002	3.759e-05	3.976e-05	2.401e-05	6.41e-06	2.4e-06	.	.	0	0	0	0	0.0002	0	2.401e-05	0	0	0	0.0004	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	.	.	.	.	.	.	.	.	0.3	520.59	127	chr12	40509062	.	A	C	520.59	.	AC=3;AF=0.3;AN=10;BaseQRankSum=0.553;DP=620;ExcessHet=1.383;FS=0.65;MLEAC=3;MLEAF=0.3;MQ=59.25;MQRankSum=-9.192;QD=1.44;ReadPosRankSum=2.3;SOR=0.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,7:86:56:0|1:40509053_T_A:56,0,3296:40509053	2	0	3	1
chr12	40509076	40509076	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	553	907	60	2	0	64	0.0340788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796925819	3.366e-05	0.0002	6.615e-05	0	5.131e-05	0	0	.	.	0	0	0	0	0	0	5.131e-05	0	0	6.575e-06	0.0004	0	1.345e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-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	.	.	.	.	.	.	.	.	0.3	402.59	126	chr12	40509076	.	G	A	402.59	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.557;DP=620;ExcessHet=1.383;FS=1.434;MLEAC=3;MLEAF=0.3;MQ=59.29;MQRankSum=-9.192;QD=1.13;ReadPosRankSum=2.33;SOR=0.54	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,7:86:56:0|1:40509076_G_A:56,0,3243:40509076	2	0	3	1
chr12	40509081	40509081	T	C	exonic	MUC19	.	unknown	UNKNOWN	.	552	908	60	2	0	64	0.0340426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796068417	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	9.204e-05	0.0005	0.0001	8.068e-05	0.0003	5.531e-05	4.367e-05	0.0001	0.0001	0.0003	0	0.0002	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	.	.	.	.	.	.	.	.	0.3	359.59	131	chr12	40509081	.	T	C	359.59	.	AC=3;AF=0.3;AN=10;BaseQRankSum=0.302;DP=626;ExcessHet=1.383;FS=0.679;MLEAC=3;MLEAF=0.3;MQ=59.35;MQRankSum=-9.192;QD=0.99;ReadPosRankSum=2.32;SOR=0.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,7:86:56:0|1:40509076_G_A:56,0,3243:40509076	2	0	3	1
chr12	45439774	45439774	G	A	exonic	ANO6	.	nonsynonymous SNV	ANO6:NM_001142679:exon20:c.G2626A:p.D876N	Scott syndrome, Autosomal recessive	440	1080	2	0	0	2	0.000925069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	.	.	0.00758786	0.0049	0.0294	0.0025	0	0.0588	0.0024	0.0053	0.0014	0.0014812	229	154602	rs142698881	0.0038	0.0036	0.0039	0.0036	0.0292	0.0037	0.0037	0.0276	0.0270	0.0292	0.0025	0.0031	5.597e-05	0.0087	0.0081	0.0031	0.0048	0.0011	0.0096	0.0096	0.0087	0.0105	0.0256	0.0092	0.0090	0.0243	0.0238	0.0256	0	0.0033	0.0026	0	0.0120	0	0.0029	0.0048	0.0008	1.0	0.00964	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.61	0.71779	T	0.73	0.02068	N	0.087	0.06454	-1.0453	0.15738	T	0.070	0.28412	T	9	0.0030485094	0.00050	T	.	.	.	0.066	0.19193	.	.	0.27132560031	0.26736	.	.	.	.	.	.	.	.	.	.	-0.634406	0.00090	T	-0.665133	0.07924	T	0.000498877279932547	0.00004	T	0.342266	0.07430	T	.	.	.	.	.	.	.	.	-2.697	0.07278	T	.	.	0.106	0.19598	B	.	.	-0.519929	0.01804	0.141	0.15850329424960052	0.00403	0.00207	0.01180	N	AEFBI	0.023692	0.01356	N	-1.7810413769565	0.00593	0.025559	-1.87690325032569	0.00543	0.02409833	0.99399070254426	0.33443	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.22	-4.45	0.03298	-1.971000	0.01593	-1.044000	0.06505	-1.576000	0.00927	0.000000	0.06391	0.000000	0.08366	0.054000	0.15518	0.0:0.2058:0.1647:0.6295	5.668	0.16981	711	0.56613	.	.	.	.	.	.	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	0.003175	0.000000	0.013514	0.012658	0.000000	0.000000	0.000000	0.000000	0.08333	869.83	70	chr12	45439774	.	G	A	869.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.916;DP=367;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.53;ReadPosRankSum=-1.83;SOR=0.646	GT:AD:DP:GQ:PL	0/1:61,41:102:99:880,0,1342	5	0	1	0
chr12	49033873	49033893	TGCTGTTGTTGCTGCTGCTGC	-	exonic	KMT2D	.	nonframeshift deletion	KMT2D:NM_003482:exon40:c.10812_10832del:p.Q3606_Q3612del	Kabuki syndrome 1, Autosomal dominant	1	1515	4	0	2	6	0.00131839	.	.	.	1010470	Kabuki_syndrome	MONDO:MONDO:0016512,MedGen:C0796004,OMIM:PS147920,Orphanet:2322	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	3.341e-05	0	0	0	0	6.263e-05	0	0	3.84e-05	1	26028	rs772217807	7.857e-06	8.209e-06	9.878e-06	5.785e-06	2.822e-05	4.22e-06	3.08e-06	3.18e-06	2.3e-06	0	2.822e-05	0	0	2.026e-05	0	7.4e-06	0	1.278e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	4127.79	35	chr12	49033872	.	TTGCTGTTGTTGCTGCTGCTGC	T	4127.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.86;DP=498;ExcessHet=0;FS=1.608;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.7;ReadPosRankSum=1.66;SOR=0.586	GT:AD:DP:GQ:PL	0/1:149,114:263:99:4138,0,5768	5	0	1	0
chr12	49325590	49325590	C	T	exonic	TROAP	.	nonsynonymous SNV	TROAP:NM_005480:exon4:c.C427T:p.R143C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	.	0.0012	0.00319489	0.0005	0.0060	0.0002	0	0	1.499e-05	0.0011	0	0.0005304	82	154602	rs116282192	0.0002	0.0002	0.0002	0.0001	0.0067	0.0002	0.0002	0.0060	0.0057	0.0067	0.0002	0	0	0	0.0009	2.698e-06	0.0003	1.159e-05	0.0017	0.0017	0.0019	0.0014	0.0057	0.0015	0.0014	0.0051	0.0049	0.0057	0	0.0010	0	0	0	0	0	0.0014	0.0002	0.003	0.68238	D	0.004	0.74150	D	0.022	0.44460	B	0.007	0.38314	B	0.261908	0.15298	N	0.612332	0.999409	0.21245	N	1.87	0.49600	L	1.85	0.24472	T	-2.98	0.79998	D	0.225	0.25253	-1.0586	0.12108	T	0.031	0.13374	T	10	0.005119741	0.00111	T	.	.	.	0.043	0.11576	.	.	0.156986980423	0.15292	0.07088714353574009	0.07025	0.247678955798	0.27324	0.372517466545	0.21192	T	0.09963	0.41958	T	-0.528514	0.00392	T	-0.530997	0.19186	T	0.0479185462392197	0.05130	T	0.772623	0.40374	T	0.1431296	0.32909	0.12747793	0.30687	0.1431296	0.32908	0.12747793	0.30686	-4.591	0.32058	T	.	.	0.124	0.26232	B	.;.;.	.;.;.	3.234093	0.44118	21.9	0.99749356761961872	0.84152	0.16675	0.19498	N	AEFBCI	0.076493	0.15390	N	-0.630319205477426	0.18038	0.9332797	-0.636085929858762	0.18569	0.9925117	0.999864023516925	0.44398	0.67177	0.52595	0	0.702456	0.74545	0	0.606735	0.37207	0	0.635551	0.53088	0	.	.	5.37	-1.96	0.07113	0.290000	0.18731	2.044000	0.30313	-0.185000	0.09859	0.970000	0.34288	1.000000	0.68203	0.977000	0.56843	0.0:0.4166:0.0:0.5834	10.197	0.42234	211	0.91797	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	380.83	36	chr12	49325590	.	C	T	380.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.665;DP=216;ExcessHet=0;FS=6.983;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=0.638;SOR=1.238	GT:AD:DP:GQ:PL	0/1:22,17:39:99:391,0,571	5	0	1	0
chr12	49330361	49330361	C	T	exonic	TROAP	.	nonsynonymous SNV	TROAP:NM_005480:exon13:c.C1516T:p.P506S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0048	0.00579073	0.0016	0.0163	0.0004	0	0	0.0002	0.0011	0.0002	0.00152	235	154602	rs149122510	0.0007	0.0007	0.0008	0.0006	0.0162	0.0006	0.0006	0.0151	0.0147	0.0162	0.0007	0	0	0.0001	0.0069	0.0003	0.0012	0.0002	0.0041	0.0041	0.0045	0.0037	0.0138	0.0039	0.0037	0.0129	0.0125	0.0138	0	0.0015	0	0	0.0003	0	0.0003	0.0038	0.0004	0.29	0.14996	T	0.104	0.38160	T	0.046	0.21875	B	0.047	0.24832	B	0.795129	0.09366	N	0.901128	1	0.08975	N	1.285	0.32305	L	.	.	.	-3.7	0.70553	D	0.091	0.06990	-1.0101	0.26886	T	0.016	0.06569	T	9	0.0037472546	0.00070	T	.	.	.	0.031	0.07369	.	.	0.0666544352282	0.05500	0.09259223556577317	0.09191	0.184474526274	0.20751	0.262075185776	0.05140	T	0.074194	0.34879	T	-0.686361	0.00044	T	-0.746362	0.03629	T	0.00876174434517882	0.00108	T	0.574643	0.20620	T	0.044997137	0.07289	0.08495607	0.19580	0.044997137	0.07288	0.08495607	0.19580	-4.886	0.35577	T	.	.	0.117	0.26669	B	.;.;.	.;.;.	1.095074	0.14792	11.33	0.64499042600607415	0.07510	0.04664	0.10340	N	AEFDGBI	0.086427	0.17524	N	-1.34718533951993	0.03154	0.140436	-1.42778241817446	0.02977	0.1380137	0.999909991782006	0.45458	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.03	-4.75	0.03003	-0.655000	0.05447	-0.143000	0.11497	-0.187000	0.09635	0.000000	0.06391	0.000000	0.08366	0.042000	0.14466	0.2245:0.3335:0.1107:0.3313	1.047	0.01473	202	0.92131	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1332.83	36	chr12	49330361	.	C	T	1332.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.29;DP=285;ExcessHet=0;FS=3.684;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=0.723;SOR=0.916	GT:AD:DP:GQ:PL	0/1:51,51:102:99:1343,0,1426	5	0	1	0
chr12	49330881	49330881	C	T	exonic	TROAP	.	nonsynonymous SNV	TROAP:NM_005480:exon13:c.C2036T:p.P679L	.	414	1068	39	1	0	41	0.0188333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	.	0.0012	0.00279553	0.0033	9.705e-05	0.0003	0	0	0.0016	0.0077	0.0171	0.0029042	449	154602	rs151202383	0.0023	0.0023	0.0018	0.0027	0.0164	0.0022	0.0022	0.0157	0.0154	0.0002	0.0005	7.66e-05	0	7.651e-05	0.0132	0.0015	0.0024	0.0164	0.0012	0.0012	0.0011	0.0013	0.0112	0.0011	0.0010	0.0088	0.0080	0.0003	0	0.0003	0	0.0002	0	0.0204	0.0015	0.0024	0.0112	0.002	0.72154	D	0.002	0.92824	D	0.993	0.65571	D	0.608	0.51027	P	0.002031	0.37411	N	0.119814	0.792242	0.34401	D	2.255	0.64187	M	.	.	.	-5.07	0.82830	D	0.491	0.57518	-0.6156	0.64172	T	0.171	0.51293	T	9	0.0036646128	0.00067	T	.	.	.	0.171	0.43483	.	.	0.358540694251	0.35469	0.5002058081100541	0.49941	0.724235548467	0.62377	0.354177832603	0.18535	T	0.13271	0.46296	T	-0.302781	0.08399	T	-0.194727	0.55145	T	0.0593209418376601	0.07061	T	0.845915	0.52533	T	0.16959953	0.37486	0.17775902	0.40399	0.16959953	0.37486	0.17775902	0.40398	-4.074	0.24905	T	.	.	0.287	0.51951	B	.;.;.	.;.;.	3.944180	0.57739	23.9	0.99772410723977034	0.86003	0.22307	0.21702	N	AEFDGBCI	0.122227	0.23727	N	0.0927473183184727	0.46124	2.857777	0.0424489785806869	0.41708	2.510312	0.999999947508023	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.67	4.78	0.60666	2.432000	0.44442	3.939000	0.40590	0.599000	0.40250	0.027000	0.20232	0.992000	0.31684	0.990000	0.65344	0.0:0.91:0.0:0.09	10.245	0.42516	201	0.92177	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.004076	0.005848	0.000000	0.008621	0.015244	0.007576	0.1667	4116.06	36	chr12	49330881	.	C	T	4116.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.122;DP=513;ExcessHet=0.4139;FS=5.35;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=1.63;SOR=0.692	GT:AD:DP:GQ:PL	0/1:84,84:168:99:2033,0,1981	4	0	2	0
chr12	49598939	49598939	G	A	exonic	FAM186B	.	nonsynonymous SNV	FAM186B:NM_032130:exon5:c.C2180T:p.A727V	.	434	1063	24	1	0	26	0.0120818	.	.	.	702346	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.048	.	0.0032	0.00539137	0.0056	0.0007	0.0021	0	0.0014	0.0051	0.0077	0.0177	0.0051358	794	154602	rs140003810	0.0047	0.0047	0.0041	0.0052	0.0197	0.0046	0.0046	0.0189	0.0186	0.0005	0.0014	0.0002	2.519e-05	0.0021	0.0061	0.0042	0.0047	0.0197	0.0032	0.0033	0.0029	0.0036	0.0186	0.0030	0.0029	0.0155	0.0143	0.0008	0.0175	0.0014	0	0	0.0025	0.0034	0.0044	0.0038	0.0186	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.877850	0.07216	N	1.075970	1	0.08975	N	-2.08	0.00163	N	2.65	0.12676	T	3.44	0.00324	N	0.293	0.33140	-0.9574	0.39662	T	0.006	0.01944	T	9	0.0028708577	0.00046	T	.	.	.	0.048	0.13305	.	.	0.0138822411134	0.00435	0.006501787356334028	0.00618	0.126722892761	0.14277	0.278444051743	0.07277	T	0.003863	0.03272	T	-0.708018	0.00033	T	-0.775515	0.02591	T	0.00702456807184596	0.00080	T	0.516848	0.16688	T	0.02423376	0.01234	0.04665354	0.06548	0.020508569	0.00611	0.048685294	0.07282	-3.957	0.23158	T	.	.	0.049	0.00354	B	.;.	.;.	0.323841	0.06985	3.535	0.57663752355777087	0.05819	0.00054	0.00410	N	AEFDBI	0.019222	0.00648	N	-1.30293351847101	0.03642	0.163038	-1.17095918037805	0.06399	0.3079119	0.00212603477977625	0.09174	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.26	2.74	0.31352	2.305000	0.43324	4.702000	0.44414	-0.112000	0.15009	0.018000	0.19461	0.231000	0.23784	0.023000	0.12082	0.8125:0.0:0.1875:0.0	6.932	0.23625	231	0.90996	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.006546	0.000000	0.000000	0.008772	0.000000	0.000000	0.012195	0.015152	0.08333	790.83	39	chr12	49598939	.	G	A	790.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.567;DP=262;ExcessHet=0;FS=3.26;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-0.808;SOR=1.179	GT:AD:DP:GQ:PL	0/1:40,34:74:99:801,0,919	5	0	1	0
chr12	52813937	52813937	C	T	exonic	KRT4	.	nonsynonymous SNV	KRT4:NM_002272:exon1:c.G122A:p.R41Q	White sponge nevus 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	332091	not_provided|White_sponge_nevus_1|KRT4-related_disorder	MedGen:C3661900|MONDO:MONDO:0008676,MedGen:C4011926,OMIM:193900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.283	.	0.0090	0.00978435	0.0030	0.0337	0.0020	0	0	3e-05	0.0011	0.0002	0.0029172	451	154602	rs36143766	0.0009	0.0009	0.0010	0.0007	0.0311	0.0008	0.0008	0.0295	0.0289	0.0311	0.0022	0	2.52e-05	0	0.0010	8.994e-06	0.0017	8.121e-05	0.0097	0.0097	0.0103	0.0091	0.0336	0.0093	0.0092	0.0321	0.0316	0.0336	0	0.0051	0	0	0	0.0034	1.482e-05	0.0063	0	0.338	0.12796	T	0.261	0.22962	T	.	.	.	.	.	.	0.000192	0.48115	D	0.000000	0.893543	0.27837	N	.	.	.	-0.92	0.75108	T	-1.33	0.33197	N	0.33	0.37093	-0.3171	0.74503	T	0.362	0.72315	T	8	0.005156547	0.00112	T	.	.	.	0.283	0.60100	.	.	0.750451137159	0.74819	0.13925180537573262	0.13848	0.451143628614	0.44869	0.291866779327	0.09194	T	.	.	.	-0.451683	0.01104	T	-0.395826	0.33870	T	0.0220787216294994	0.00918	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.18080	B	.	.	3.117862	0.42078	21.5	0.99935577362639472	0.99579	0.91802	0.54294	D	AEFDBI	0.250390	0.37044	N	0.101504505063705	0.46532	2.892205	0.111911612038641	0.45157	2.783895	0.999985067986371	0.51787	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.14	4.25	0.49658	0.896000	0.28009	.	.	0.544000	0.25403	0.000000	0.06391	1.000000	0.68203	0.465000	0.28230	0.0:0.8578:0.1422:0.0	14.991	0.71043	657	0.62240	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.002717	0.008772	0.000000	0.000000	0.000000	0.000000	0.08333	1611.83	39	chr12	52813937	.	C	T	1611.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.782;DP=304;ExcessHet=0;FS=0.716;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=0.881;SOR=0.578	GT:AD:DP:GQ:PL	0/1:47,64:111:99:1622,0,1027	5	0	1	0
chr12	53060824	53060824	C	T	exonic	TNS2	.	nonsynonymous SNV	TNS2:NM_015319:exon20:c.C2948T:p.P983L,TNS2:NM_170754:exon20:c.C2918T:p.P973L,TNS2:NM_198316:exon20:c.C2546T:p.P849L	.	422	1099	1	0	0	1	0.000454752	.	.	.	2091589	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.213	.	0.0030	0.00279553	0.0011	0.0109	0.0007	0	0	8.489e-05	0	0.0001	0.0009573	148	154602	rs143336823	0.0004	0.0004	0.0004	0.0004	0.0110	0.0004	0.0004	0.0101	0.0097	0.0110	0.0009	3.844e-05	0	0	0.0017	5.953e-05	0.0016	6.979e-05	0.0029	0.0029	0.0029	0.0029	0.0097	0.0027	0.0026	0.0089	0.0086	0.0097	0	0.0022	0	0	0	0.0034	7.35e-05	0.0028	0	0.001	0.78490	D	0.017	0.72224	D	0.137	0.27402	B	0.109	0.31370	B	0.267283	0.15197	N	0.629993	1	0.08975	N	.	.	.	-3.64	0.95145	D	-2.66	0.77881	D	0.255	0.31925	-0.2562	0.76191	T	0.492	0.80713	T	10	0.0036511123	0.00067	T	.	.	.	0.213	0.50496	.	.	0.206339911435	0.20273	0.4273900725108311	0.42656	0.228357691727	0.25387	0.376614689827	0.21775	T	0.572495	0.85868	D	-0.247305	0.14432	T	-0.120336	0.61774	T	0.0234263311135602	0.01074	T	0.724828	0.33863	T	0.06543151	0.13983	0.09877785	0.23560	0.06543151	0.13982	0.09877785	0.23559	-5.749	0.44128	T	.	.	0.074	0.26106	B	.;.;.;.;.;.	.;.;.;.;.;.	2.081076	0.26466	17.13	0.58663451390436661	0.06044	0.21259	0.21338	N	AEFDGBCI	0.249323	0.36957	N	-0.841679741999381	0.12255	0.5962563	-0.830778996687116	0.13750	0.7150136	0.999999972191263	0.74766	0.645754	0.44609	0	0.514364	0.08380	0	0.536957	0.11973	0	0.723	0.93126	0	.	.	4.45	3.56	0.39892	0.893000	0.27970	3.160000	0.36564	-0.182000	0.10109	0.000000	0.06391	0.082000	0.22400	0.005000	0.06747	0.0:0.8937:0.0:0.1063	8.535	0.32518	761	0.50382	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008569	0.000000	0.016304	0.008772	0.000000	0.017241	0.000000	0.000000	0.08333	864.83	39	chr12	53060824	.	C	T	864.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.809;DP=242;ExcessHet=0;FS=0.95;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=-1.133;SOR=0.628	GT:AD:DP:GQ:PL	0/1:28,37:65:99:875,0,808	5	0	1	0
chr12	53102094	53102094	G	A	exonic	IGFBP6	.	nonsynonymous SNV	IGFBP6:NM_002178:exon4:c.G650A:p.R217Q	.	421	1100	1	0	0	1	0.000454339	.	.	.	702388	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.125	.	0.0078	0.00798722	0.0024	0.0256	0.0012	0.0001	0	0.0001	0.0022	0.0002	0.0023286	360	154602	rs6413498	0.0009	0.0009	0.0010	0.0008	0.0244	0.0008	0.0008	0.0230	0.0224	0.0244	0.0014	0	7.56e-05	0	0.0021	0.0002	0.0026	0.0002	0.0072	0.0072	0.0074	0.0071	0.0245	0.0069	0.0067	0.0232	0.0227	0.0245	0	0.0038	0	0.0004	0	0.0034	0.0002	0.0043	0.0006	0.056	0.38185	T	0.266	0.23097	T	1.0	0.90584	D	0.943	0.67921	D	0.001364	0.39242	N	0.216249	0.996469	0.24820	N	0.895	0.22405	L	-0.07	0.63738	T	-0.77	0.22508	N	0.289	0.32701	-0.9345	0.43470	T	0.112	0.40006	T	10	0.0067591667	0.00153	T	.	.	.	0.125	0.34456	.	.	0.735826198445	0.73346	0.4424469497750818	0.44161	1.07517792707	0.76937	0.464976012707	0.33992	T	0.010618	0.37438	T	-0.430282	0.01477	T	-0.371923	0.36665	T	0.0314829211122555	0.02223	T	0.893911	0.63238	D	0.14539294	0.33331	0.13118123	0.31504	0.14539294	0.33330	0.13118123	0.31503	-4.726	0.33718	T	.	.	0.148	0.32685	B	.;.;.;.	.;.;.;.	5.377999	0.90137	31	0.99943831854354603	0.99868	0.55657	0.29919	D	AEFDBCI	0.222058	0.34660	N	0.356157967015456	0.59066	4.08303	0.335603151047696	0.57646	3.930994	0.999994451766463	0.74766	0.626454	0.40138	0	0.547309	0.14657	0	0.80507	0.99327	0	0.699875	0.68795	0	.	.	4.51	3.6	0.40374	2.711000	0.46845	8.203000	0.76806	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.2102:0.7898:0.0	10.330	0.43000	778	0.48011	Thyroglobulin type-1|Thyroglobulin type-1|Thyroglobulin type-1|Thyroglobulin type-1|Thyroglobulin type-1;Thyroglobulin type-1|Thyroglobulin type-1|Thyroglobulin type-1|Thyroglobulin type-1|Thyroglobulin type-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	0	0	1	0	0.005035	0.000000	0.009511	0.002924	0.000000	0.017241	0.000000	0.003788	0.08333	516.83	35	chr12	53102094	.	G	A	516.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.188;DP=206;ExcessHet=0;FS=1.237;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=2.64;SOR=0.504	GT:AD:DP:GQ:PL	0/1:16,23:39:99:527,0,396	5	0	1	0
chr12	53288179	53288179	G	A	exonic	ESPL1	.	nonsynonymous SNV	ESPL1:NM_012291:exon19:c.G4384A:p.A1462T	.	419	1100	3	0	0	3	0.00136178	.	.	.	713610	ESPL1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.030	.	0.0070	0.00738818	0.0027	0.0199	0.0041	0	0	0.0011	0.0027	0	0.0024903	385	154602	rs61752572	0.0014	0.0014	0.0014	0.0013	0.0184	0.0013	0.0013	0.0172	0.0167	0.0184	0.0050	0.0014	0	0	0.0082	0.0008	0.0033	1.162e-05	0.0059	0.0059	0.0061	0.0058	0.0168	0.0056	0.0055	0.0158	0.0154	0.0168	0	0.0065	0.0032	0	0	0.0136	0.0010	0.0095	0.0002	0.232	0.18184	T	0.259	0.23097	T	0.0	0.02946	B	0.001	0.04355	B	0.698810	0.10111	N	0.881022	1	0.08975	N	1.59	0.40313	L	2.68	0.12371	T	-0.44	0.14588	N	0.079	0.05414	-0.9737	0.36409	T	0.011	0.04274	T	10	0.002418816	0.00036	T	.	.	.	0.030	0.07022	.	.	0.110392049598	0.10638	0.18690976141324744	0.18608	0.225285402784	0.25073	0.393876165152	0.24214	T	0.041952	0.26026	T	-0.725831	0.00025	T	-0.801103	0.01875	T	0.00152989259094374	0.00015	T	0.612939	0.23352	T	0.022730958	0.00957	0.04160076	0.04765	0.022730958	0.00956	0.04160076	0.04765	-3.902	0.22333	T	.	.	0.079	0.07507	B	.;.	.;.	1.629817	0.20810	14.92	0.96508862091439751	0.30072	0.08948	0.14798	N	AEFGBHCI	0.038965	0.05593	N	-0.909765494252407	0.10613	0.5079829	-0.846558416796685	0.13370	0.6932312	0.999917602820296	0.45857	0.712529	0.81865	0	0.702456	0.74545	0	0.635938	0.45252	0	0.662433	0.64102	0	.	.	6.01	3.08	0.34576	0.075000	0.14547	0.241000	0.16308	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.992000	0.67800	0.1636:0.0:0.5316:0.3048	4.683	0.12124	701	0.57775	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012601	0.040816	0.020380	0.000000	0.000000	0.017241	0.000000	0.000000	0.08333	510.83	72	chr12	53288179	.	G	A	510.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.525;DP=379;ExcessHet=0;FS=2.273;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.66;ReadPosRankSum=0.676;SOR=0.405	GT:AD:DP:GQ:PL	0/1:36,23:59:99:521,0,1068	5	0	1	0
chr12	56672994	56672994	T	C	exonic	PTGES3	.	nonsynonymous SNV	PTGES3:NM_001282601:exon2:c.A74G:p.K25R,PTGES3:NM_001282602:exon2:c.A74G:p.K25R,PTGES3:NM_001282603:exon2:c.A74G:p.K25R,PTGES3:NM_001282605:exon2:c.A74G:p.K25R,PTGES3:NM_006601:exon2:c.A74G:p.K25R,PTGES3:NM_001282604:exon3:c.A86G:p.K29R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	.	0.0032	0.00359425	0.0009	0.0096	0.0010	0	0	1.512e-05	0	6.139e-05	0.000912	141	154602	rs141815775	0.0003	0.0003	0.0003	0.0003	0.0099	0.0003	0.0003	0.0090	0.0087	0.0099	0.0008	0	0	0	0.0010	2.791e-05	0.0007	2.369e-05	0.0025	0.0025	0.0026	0.0024	0.0088	0.0023	0.0022	0.0080	0.0077	0.0088	0	0.0008	0	0	0	0.0034	4.41e-05	0.0019	0	0.093	0.37326	T	0.3	0.20357	T	0.028	0.19712	B	0.055	0.25995	B	0.000000	0.84330	N	0.087616	0.99999	0.58761	D	2.11	0.58565	M	2.44	0.34253	T	-1.54	0.43149	N	0.284	0.34874	-0.9474	0.41414	T	0.104	0.38193	T	10	0.008946389	0.00202	T	.	.	.	0.115	0.32236	.	.	0.573183931521	0.56985	0.4462146497201051	0.44539	0.77212903692	0.64820	0.761217713356	0.76110	T	0.172218	0.52063	T	-0.441895	0.01260	T	-0.400563	0.33319	T	0.0237027004209731	0.01108	T	0.761624	0.44558	T	0.23668185	0.46522	0.10100398	0.24167	0.23668185	0.46522	0.10100398	0.24167	-6.511	0.50371	T	.	.	0.085	0.16363	B	.;.;.;.;.;.	.;.;.;.;.;.	3.860739	0.55989	23.7	0.99715837143847208	0.81703	0.95929	0.66766	D	AEFBI	0.626037	0.60901	D	0.179023364973356	0.50193	3.211645	0.255235454337663	0.52946	3.466342	0.999998241394209	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.724815	0.87919	0	0.677812	0.66336	0	.	.	5.56	4.39	0.52211	5.072000	0.64217	4.941000	0.46210	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0761:0.0:0.9239	10.819	0.45799	52	0.97609	CS domain|CS domain;CS domain|CS domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.010870	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1063.83	33	chr12	56672994	.	T	C	1063.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.916;DP=256;ExcessHet=0;FS=4.118;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-0.826;SOR=1.162	GT:AD:DP:GQ:PL	0/1:49,38:87:99:1074,0,1382	5	0	1	0
chr12	56720277	56720277	G	C	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001113203:exon3:c.C1253G:p.S418C,NACA:NM_001365896:exon3:c.C1253G:p.S418C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	.	0.0031	0.00379393	0.0010	0.0109	0.0010	0	0	1.508e-05	0	6.057e-05	0.0009702	150	154602	rs150062953	0.0003	0.0003	0.0004	0.0003	0.0111	0.0003	0.0003	0.0102	0.0098	0.0111	0.0008	0	0	0	0.0010	2.878e-05	0.0006	2.319e-05	0.0028	0.0028	0.0029	0.0027	0.0096	0.0026	0.0025	0.0088	0.0085	0.0096	0	0.0009	0	0	0	0.0034	4.409e-05	0.0033	0	0.007	0.72154	D	0.026	0.55759	D	0.999	0.77913	D	0.907	0.64423	P	.	.	.	.	1	0.19781	N	0.695	0.17993	N	0.5	0.55608	T	-1.27	0.31981	N	0.264	0.30914	-1.0331	0.19459	T	0.078	0.30982	T	9	0.0065028965	0.00147	T	.	.	.	0.093	0.26882	.	.	0.469742815239	0.46599	0.06288779749462468	0.06227	0.128824282099	0.14521	0.270689249039	0.06232	T	0.114	0.43201	T	-0.452125	0.01097	T	-0.412828	0.31899	T	0.0287940701884974	0.01806	T	0.463154	0.13467	T	0.09373941	0.22025	0.11285404	0.27232	0.09373941	0.22024	0.11285404	0.27231	-6.533	0.51160	T	.	.	0.177	0.38747	B	.;.	.;.	2.449566	0.31538	18.77	0.94128268143397809	0.24311	0.75237	0.36828	D	AEFDBCI	0.099332	0.19998	N	0.0440170834258203	0.43868	2.671406	0.0073801857525671	0.40055	2.384575	0.999986782553491	0.51787	0.489673	0.17934	0	0.587265	0.34161	0	0.759307	0.98198	0	0.322989	0.05693	1	.	.	3.84	2.94	0.33188	2.548000	0.45455	5.823000	0.50099	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.073000	0.16832	0.1235:0.0:0.8765:0.0	7.763	0.28128	45	0.97767	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.010870	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1103.83	68	chr12	56720277	.	G	C	1103.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.419;DP=304;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.48;ReadPosRankSum=-0.582;SOR=0.634	GT:AD:DP:GQ:PL	0/1:27,40:67:99:1114,0,697	5	0	1	0
chr12	56773907	56773907	C	G	exonic	HSD17B6	.	nonsynonymous SNV	HSD17B6:NM_003725:exon2:c.C55G:p.R19G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.417	0.130998104147	0.0017	0.00179712	0.0005	0.0045	0.0010	0	0	1.528e-05	0	7.45e-05	0.0004463	69	154602	rs146006697	0.0002	0.0001	0.0002	0.0001	0.0042	0.0001	0.0001	0.0036	0.0034	0.0042	0.0006	0	0	0	0.0009	2.611e-05	0.0002	1.165e-05	0.0012	0.0012	0.0011	0.0012	0.0039	0.0010	0.0010	0.0034	0.0032	0.0039	0	0.0005	0	0	0	0.0034	5.881e-05	0.0009	0	0.001	0.78490	D	0.003	0.76473	D	0.11	0.26188	B	0.057	0.26280	B	0.023652	0.26402	N	0.242522	0.944159	0.37437	D	1.275	0.32135	L	-2.22	0.87038	D	-6.3	0.93060	D	0.659	0.66873	-0.0694	0.80794	T	0.466	0.79367	T	10	0.013084859	0.00279	T	0.130998	0.81320	D	0.417	0.72705	.	.	0.773662088066	0.77158	0.3501620010723229	0.34930	0.560996870616	0.52611	0.287920951843	0.08620	T	0.489214	0.81453	T	-0.282065	0.10450	T	-0.178224	0.56687	T	0.0788094650791245	0.09834	T	0.914708	0.69822	D	0.49241126	0.66646	0.5152543	0.71991	0.49241126	0.66647	0.5152543	0.71992	-12.157	0.85608	D	.	.	0.141	0.47794	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.074940	0.26388	17.10	0.99608736882963433	0.74694	0.73056	0.35741	D	AEFDBI	0.850922	0.76777	D	-0.116670414092591	0.36667	2.122514	-0.00945265506900919	0.39286	2.327071	0.00976210390124004	0.11910	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.08	4.18	0.48473	0.031000	0.13598	-3.689000	0.02604	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.981000	0.58702	0.31:0.69:0.0:0.0	12.174	0.53480	161	0.93754	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.010870	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1396.83	33	chr12	56773907	.	C	G	1396.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.742;DP=322;ExcessHet=0;FS=0.637;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=-2.038;SOR=0.767	GT:AD:DP:GQ:PL	0/1:72,62:134:99:1407,0,1662	5	0	1	0
chr12	57196269	57196269	G	A	exonic	LRP1	.	nonsynonymous SNV	LRP1:NM_002332:exon55:c.G8884A:p.G2962S	.	0	1520	2	0	0	2	0.000657462	.	.	.	713666	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.582	.	0.0011	0.00399361	0.0007	0.0057	0.0010	0.0002	0	2.275e-05	0	0.0003	0.0005175	80	154602	rs144160982	0.0002	0.0002	0.0002	0.0002	0.0042	0.0001	0.0001	0.0037	0.0034	0.0042	0.0005	0	0	0	0.0007	1.736e-05	0.0005	9.588e-05	0.0012	0.0012	0.0013	0.0011	0.0041	0.0011	0.0010	0.0036	0.0034	0.0041	0	0.0005	0	0.0002	0	0.0034	5.88e-05	0.0005	0	0.28	0.15509	T	0.095	0.39492	T	1.0	0.90584	D	0.995	0.83170	D	0.000509	0.43753	D	0.146929	0.999745	0.48716	D	0.815	0.20815	L	-2.06	0.85875	D	-2.38	0.52451	N	0.859	0.85554	-0.2974	0.75057	T	0.407	0.75685	T	10	0.017533153	0.00375	T	.	.	.	0.582	0.83193	.	.	0.926997294735	0.92624	0.8868459574563721	0.88653	.	.	0.696600019932	0.66653	T	0.423504	0.77423	T	-0.0685219	0.41564	T	0.128926	0.78821	D	0.0615441115594868	0.07409	T	0.89811	0.64401	D	0.1441622	0.33102	0.13951601	0.33285	0.1441622	0.33102	0.13951601	0.33285	-7.554	0.57989	D	.	.	0.323	0.54747	B	.	.	4.743534	0.76522	26.5	0.97906913183171052	0.36787	0.98544	0.83920	D	AEFDBHCI	0.961209	0.98234	D	0.301499954700328	0.56226	3.786942	0.314047395771234	0.56363	3.799673	0.999999420447068	0.74766	0.67177	0.52595	0	0.688826	0.66785	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	5.02	4.13	0.47661	9.761000	0.98129	11.613000	0.93559	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.726000	0.34967	0.0824:0.0:0.9176:0.0	12.408	0.54783	351	0.85421	Complement Clr-like EGF domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003532	0.010204	0.004098	0.002941	0.000000	0.000000	0.000000	0.000000	0.08333	2090.83	37	chr12	57196269	.	G	A	2090.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.035;DP=365;ExcessHet=0;FS=1.2;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=-0.458;SOR=0.834	GT:AD:DP:GQ:PL	0/1:83,87:170:99:2101,0,1945	5	0	1	0
chr12	64610741	64610741	C	G	exonic	RASSF3	.	nonsynonymous SNV	RASSF3:NM_178169:exon1:c.C109G:p.Q37E	.	417	1104	1	0	0	1	0.000452694	0.0011	0.09	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.203957473543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.402e-06	2.736e-06	2.79e-06	0	1.827e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.827e-06	0	0	6.574e-06	6.567e-06	0	1.346e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.711	0.04032	T	0.982	0.02411	T	0.0	0.02946	B	0.0	0.01387	B	0.048851	0.23215	U	0.336252	0.999763	0.20447	N	1.7	0.43825	L	2.62	0.12988	T	-0.48	0.15379	N	0.097	0.07811	-0.9723	0.36712	T	0.017	0.06902	T	9	0.06882772	0.09789	T	0.203957	0.86904	D	0.056	0.15993	0.108	0.01928	0.354610295913	0.35065	0.11834948202870363	0.11761	0.075458207482	0.08464	0.640428304672	0.58625	T	0.005863	0.05306	T	-0.306086	0.08097	T	-0.677448	0.07140	T	0.043014246150695	0.04240	T	0.465053	0.13602	T	0.07484979	0.16824	0.057150505	0.10338	0.07484979	0.16824	0.057150505	0.10338	-2.679	0.07128	T	.	.	0.059	0.00934	B	.;.	.;.	2.413964	0.31030	18.62	0.88708064623533089	0.18191	0.22314	0.21704	N	AEFDBHCIJ	0.241243	0.36289	N	-0.521895052119711	0.21374	1.133789	-0.411310794611088	0.24664	1.351953	0.999999999927345	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	2.49	2.49	0.29274	1.188000	0.31711	5.589000	0.48992	0.447000	0.21209	0.563000	0.27449	1.000000	0.68203	0.656000	0.32857	0.0:0.8747:0.0:0.1253	8.383	0.31644	633	0.64743	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	481.83	33	chr12	64610741	.	C	G	481.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.145;DP=188;ExcessHet=0;FS=5.209;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=0.159;SOR=0.193	GT:AD:DP:GQ:PL	0/1:16,20:36:99:492,0,417	5	0	1	0
chr12	64716766	64716766	C	T	exonic	GNS	.	nonsynonymous SNV	GNS:NM_002076:exon14:c.G1634A:p.R545Q	Mucopolysaccharidosis type IIID, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	1189345	Mucopolysaccharidosis,_MPS-III-D	MONDO:MONDO:0009658,MedGen:C0086650,OMIM:252940,Orphanet:581,Orphanet:79272	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.077	0.0823719354707	.	.	2.483e-05	0	8.7e-05	0	0	1.503e-05	0	6.125e-05	1.94e-05	3	154602	rs756752200	1.095e-05	1.094e-05	5.451e-06	1.651e-05	2.319e-05	6.49e-06	5.25e-06	5.31e-06	3.88e-06	0	2.236e-05	3.826e-05	0	0	0	9.902e-06	1.657e-05	2.319e-05	6.571e-06	6.567e-06	1.285e-05	0	6.549e-05	0	0	.	.	0	0	6.549e-05	0	0	0	0	0	0	0	0.013	0.59928	D	0.029	0.56640	D	0.052	0.64070	B	0.003	0.51382	B	0.001673	0.38326	N	0.241485	0.99711	0.43640	D	1.95	0.52479	M	-0.03	0.63077	T	-0.21	0.10308	N	0.418	0.50958	-0.7200	0.59463	T	0.233	0.59904	T	9	0.28939104	0.46520	T	0.082372	0.73886	D	0.077	0.22490	0.345	0.33950	0.657716601585	0.65485	0.448411969750105	0.44759	0.591894902042	0.54610	0.415419578552	0.27205	T	0.225997	0.60157	T	-0.210331	0.19332	T	-0.364056	0.37583	T	0.246123045682907	0.22698	T	0.955004	0.82846	D	0.04061089	0.05830	0.043665066	0.05483	0.04061089	0.05830	0.043665066	0.05483	-5.442	0.41321	T	.	.	0.095	0.15341	B	.;.;.;.	.;.;.;.	3.319350	0.45644	22.2	0.99869907408041314	0.94726	0.97380	0.74382	D	AEFBI	0.562570	0.57011	D	-0.261450909323177	0.30648	1.710926	-0.155628104829416	0.33192	1.896161	0.999998925849401	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.6	4.71	0.59010	3.772000	0.55034	2.752000	0.34542	-0.202000	0.08738	1.000000	0.71638	1.000000	0.68203	0.013000	0.09966	0.0:0.9265:0.0:0.0735	13.312	0.59825	698	0.58074	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1128.83	34	chr12	64716766	.	C	T	1128.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.214;DP=249;ExcessHet=0;FS=4.92;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.9;ReadPosRankSum=1.55;SOR=0.29	GT:AD:DP:GQ:PL	0/1:26,45:71:99:1139,0,543	5	0	1	0
chr12	69574374	69574374	-	GTGCCC	exonic	FRS2	.	nonframeshift insertion	FRS2:NM_001278357:exon7:c.946_947insGTGCCC:p.A317_S318insRA,FRS2:NM_001278356:exon9:c.946_947insGTGCCC:p.A317_S318insRA,FRS2:NM_001042555:exon10:c.946_947insGTGCCC:p.A317_S318insRA,FRS2:NM_001278354:exon10:c.946_947insGTGCCC:p.A317_S318insRA,FRS2:NM_001278355:exon10:c.946_947insGTGCCC:p.A317_S318insRA,FRS2:NM_006654:exon10:c.946_947insGTGCCC:p.A317_S318insRA,FRS2:NM_001278351:exon11:c.946_947insGTGCCC:p.A317_S318insRA,FRS2:NM_001278353:exon11:c.946_947insGTGCCC:p.A317_S318insRA	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0010	0.0001	0.0002	0	0	7.499e-05	0	0.0070	0.0003074	8	26028	rs562159290	0.0004	0.0004	0.0002	0.0005	0.0057	0.0004	0.0003	0.0052	0.0051	0	6.708e-05	0	0	0	0.0007	4.141e-05	0.0003	0.0057	0.0002	0.0002	0.0001	0.0003	0.0064	0.0002	0.0001	0.0046	0.0040	0	0	6.533e-05	0	0	0	0.0034	1.47e-05	0.0005	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1749.79	38	chr12	69574374	.	A	AGTGCCC	1749.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.06;DP=295;ExcessHet=0;FS=1.764;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.59;ReadPosRankSum=-1.076;SOR=0.835	GT:AD:DP:GQ:PL	0/1:39,46:85:99:1760,0,1500	5	0	1	0
chr12	70329450	70329450	T	C	exonic	CNOT2	.	nonsynonymous SNV	CNOT2:NM_001199303:exon5:c.T266C:p.M89T,CNOT2:NM_014515:exon5:c.T266C:p.M89T,CNOT2:NM_001199302:exon6:c.T266C:p.M89T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.0131236657606	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0024	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	9.366e-05	0	0	2.54e-05	0	0	0.0002	0.0001	5.893e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.72154	T	0.373	0.58613	T	0.089	0.25085	B	0.015	0.17295	B	0.000002	0.62929	D	0.156649	0.999987	0.54805	D	1.39	0.34934	L	0.75	0.50192	T	-1.37	0.73151	N	0.791	0.78737	-1.0546	0.13145	T	0.070	0.28609	T	10	0.3466993	0.51619	T	0.013124	0.32271	T	0.286	0.60456	0.221	0.14371	0.702063244252	0.69947	0.5511041298698888	0.55036	1.14100540041	0.78923	0.857781887054	0.90783	D	0.084111	0.37206	T	0.247529	0.78369	D	0.117782	0.78087	D	0.656853437423706	0.38758	D	0.789921	0.45805	T	0.21835071	0.44341	0.21838577	0.46539	0.21835071	0.44341	0.21838577	0.46538	-4.093	0.25187	T	.	.	0.581	0.70259	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.987872	0.58674	24.0	0.9772757362070762	0.35598	0.97687	0.76416	D	AEFBI	0.932963	0.92412	D	-0.161537160210571	0.34744	1.986992	0.0781611403978821	0.43451	2.64668	0.999999326455377	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.5	5.5	0.81386	7.674000	0.83146	7.864000	0.71599	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	14.188	0.65156	716	0.55970	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1333.71	38	chr12	70329450	.	T	C	1333.71	.	AC=2;AF=0.5;AN=4;BaseQRankSum=0.098;DP=364;ExcessHet=0.4139;FS=336.318;MLEAC=3;MLEAF=0.75;MQ=60;MQRankSum=0;QD=8.13;ReadPosRankSum=0.274;SOR=7.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,11:64:99:0|1:70329448_G_A:162,0,2071:70329448	0	0	2	4
chr12	70329451	70329451	G	A	exonic	CNOT2	.	nonsynonymous SNV	CNOT2:NM_001199303:exon5:c.G267A:p.M89I,CNOT2:NM_014515:exon5:c.G267A:p.M89I,CNOT2:NM_001199302:exon6:c.G267A:p.M89I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.0103649765516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.043e-07	6.894e-07	1.406e-06	0	9.311e-07	0	0	.	.	0	0	0	0	0	0	9.311e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.41364	T	0.74	0.14725	T	0.0	0.02946	B	0.0	0.01387	B	0.000002	0.62929	D	0.156649	0.999898	0.50595	D	1.735	0.44892	L	0.94	0.43672	T	-0.39	0.57599	N	0.48	0.51851	-1.0708	0.09238	T	0.062	0.25708	T	10	0.23940006	0.41079	T	0.010365	0.26807	T	0.130	0.35528	0.277	0.23004	0.369524611565	0.36568	0.44334245260416183	0.44252	1.09812664247	0.77639	0.794959783554	0.81196	T	0.070289	0.33924	T	-0.0695512	0.41400	T	-0.337682	0.40607	T	0.759007751941681	0.43794	D	0.931607	0.77964	D	0.2108132	0.43389	0.21262307	0.45739	0.2108132	0.43389	0.21262307	0.45738	-3.813	0.20999	T	.	.	0.372	0.61506	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.889866	0.56592	23.8	0.97936597058958741	0.36999	0.97640	0.76089	D	AEFBI	0.924572	0.90281	D	-0.117543626066413	0.36629	2.119811	0.139756337599154	0.46603	2.903537	0.999961322651884	0.48965	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.5	5.5	0.81386	7.758000	0.84076	11.794000	0.96459	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.588	0.87887	716	0.55970	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1330.99	38	chr12	70329451	.	G	A	1330.99	.	AC=2;AF=0.333;AN=6;BaseQRankSum=-2.725;DP=379;ExcessHet=0.4139;FS=336.318;MLEAC=3;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.12;ReadPosRankSum=0.501;SOR=7.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,11:64:99:0|1:70329448_G_A:162,0,2071:70329448	1	0	2	3
chr12	70559409	70559409	C	T	exonic	PTPRB	.	nonsynonymous SNV	PTPRB:NM_001206971:exon15:c.G3724A:p.V1242I,PTPRB:NM_001206972:exon15:c.G3724A:p.V1242I,PTPRB:NM_002837:exon16:c.G3994A:p.V1332I,PTPRB:NM_001330204:exon17:c.G4384A:p.V1462I,PTPRB:NM_001109754:exon18:c.G4648A:p.V1550I	.	425	1075	21	1	0	23	0.0105844	.	.	.	2807183	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.203	.	0.0038	0.00219649	0.0062	0.0012	0.0015	0	0.0243	0.0071	0.0056	0.0050	0.0055109	852	154602	rs111874833	0.0051	0.0051	0.0050	0.0052	0.0094	0.0050	0.0050	0.0074	0.0067	0.0007	0.0017	0.0098	2.519e-05	0.0230	0.0094	0.0046	0.0050	0.0052	0.0050	0.0050	0.0045	0.0056	0.0057	0.0047	0.0046	0.0053	0.0051	0.0007	0	0.0014	0.0081	0	0.0246	0.0170	0.0057	0.0024	0.0048	0.062	0.40068	T	0.157	0.37872	T	0.707	0.50183	P	0.112	0.44733	B	0.001299	0.39521	N	0.254645	0.996816	0.43435	D	0.55	0.14455	N	-0.51	0.70597	T	-0.23	0.10656	N	0.25	0.30687	-0.6969	0.60586	T	0.200	0.55555	T	10	0.005764514	0.00128	T	.	.	.	0.203	0.48915	.	.	0.41668977595	0.41282	0.26343596453826423	0.26256	0.376943265335	0.39130	0.329503953457	0.14859	T	0.057935	0.40396	T	-0.420111	0.01707	T	-0.371812	0.36677	T	0.00748326527203168	0.00086	T	0.855914	0.54393	D	0.026782483	0.01780	0.03632397	0.03057	0.026782483	0.01780	0.03632397	0.03056	-3.87	0.22377	T	.	.	0.071	0.12371	B	.;.;.;.;.;.	.;.;.;.;.;.	2.596813	0.33695	19.42	0.99102631284045284	0.52521	0.85628	0.44781	D	AEFBI	0.408135	0.47993	N	-0.122034637442761	0.36435	2.105933	-0.0720167279260983	0.36552	2.128649	0.732845549914881	0.23079	0.719381	0.83141	0	0.573888	0.26702	0	0.547309	0.15389	0	0.733575	0.97253	0	.	.	5.84	3.93	0.44666	1.577000	0.36124	4.038000	0.41399	-0.182000	0.10109	0.970000	0.34288	0.999000	0.35428	0.790000	0.37311	0.0:0.7328:0.1287:0.1385	8.458	0.32074	734	0.53889	.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.000000	0.008152	0.000000	0.000000	0.025862	0.009146	0.018939	0.08333	1504.83	36	chr12	70559409	.	C	T	1504.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.267;DP=283;ExcessHet=0;FS=2.473;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=0.385;SOR=0.468	GT:AD:DP:GQ:PL	0/1:52,60:112:99:1515,0,1209	5	0	1	0
chr12	89471617	89471617	G	C	exonic	POC1B	.	nonsynonymous SNV	POC1B:NM_001199777:exon5:c.C547G:p.Q183E,POC1B:NM_172240:exon6:c.C673G:p.Q225E	Cone-rod dystrophy 20, Autosomal recessive	435	1079	8	0	0	8	0.00369344	.	.	.	822090	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.086	0.0142541269415	0.0004	0.000199681	0.0004	0	0	0.0001	0	0.0005	0.0022	0.0007	0.0003622	56	154602	rs145981936	0.0002	0.0002	0.0002	0.0002	0.0049	0.0002	0.0002	0.0035	0.0030	9.107e-05	0.0004	0.0029	2.53e-05	0	0.0049	9.244e-05	0.0006	0.0005	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0005	0.0004	4.816e-05	0	0.0008	0.0020	0	0	0.0068	0.0002	0.0009	0.0006	0.01	0.56456	D	0.049	0.48336	D	0.334	0.33305	B	0.197	0.36707	B	0.000014	0.62929	D	0.155036	1	0.81001	D	0.735	0.18861	N	0.28	0.59037	T	-1.83	0.45949	N	0.25	0.31253	-0.9948	0.31352	T	0.113	0.40307	T	10	0.02311951	0.00596	T	0.014254	0.34240	T	0.086	0.25016	.	.	0.586756053714	0.58349	0.15780116846125739	0.15701	0.191270352614	0.21451	.	.	.	0.069725	0.33781	T	-0.262084	0.12658	T	-0.277982	0.47011	T	0.0364510650855852	0.03060	T	0.90231	0.77758	D	0.22675624	0.45363	0.3116786	0.57173	0.24818182	0.47803	0.26886395	0.52759	-7.163	0.55215	T	0.2510777077888485	0.33979	0.115	0.22861	B	.;.;.	.;.;.	3.665034	0.52089	23.2	0.97386164742167591	0.33696	0.99130	0.91667	D	AEFBI	0.719247	0.67019	D	0.0399781027656686	0.43683	2.656442	0.262079053021299	0.53339	3.503387	0.999995378323134	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.02	6.02	0.97559	5.040000	0.63987	8.575000	0.77622	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8588:0.1412	16.150	0.81423	859	0.33891	WD40-repeat-containing domain;WD40-repeat-containing domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.004532	0.000000	0.002717	0.005848	0.050000	0.008621	0.006098	0.003788	0.08333	436.83	34	chr12	89471617	.	G	C	436.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.984;DP=236;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.53;ReadPosRankSum=0.845;SOR=0.555	GT:AD:DP:GQ:PL	0/1:39,19:58:99:447,0,1016	5	0	1	0
chr12	103705720	103705720	C	A	exonic	STAB2	.	nonsynonymous SNV	STAB2:NM_017564:exon37:c.C3989A:p.T1330N	.	7	1487	28	0	0	28	0.00932712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.361	0.0509953503137	0.0002	0.000599042	0.0008	0	0	0	0	0.0004	0.0011	0.0044	0.0006856	106	154602	rs201821239	0.0004	0.0004	0.0003	0.0006	0.0064	0.0004	0.0004	0.0048	0.0042	2.987e-05	0.0005	0.0016	0	0	0.0064	9.353e-05	0.0007	0.0045	0.0005	0.0005	0.0002	0.0007	0.0052	0.0004	0.0003	0.0036	0.0031	2.406e-05	0	0.0012	0.0006	0	0	0.0068	0.0003	0.0005	0.0052	0.027	0.46513	D	0.003	0.76473	D	1.0	0.90584	D	0.997	0.86255	D	0.000010	0.62929	D	0.110237	0.882891	0.35788	D	1.765	0.45800	L	-2.06	0.85875	D	-2.27	0.50666	N	0.357	0.39861	0.503	0.90587	D	0.708	0.89977	D	10	0.01371336	0.00290	T	0.050995	0.64476	D	0.361	0.68141	.	.	0.803979797774	0.80215	0.6817167318592029	0.68110	0.187205896589	0.21033	0.544834434986	0.45129	T	0.187926	0.54168	T	-0.294554	0.09182	T	-0.196027	0.55023	T	0.104326851224289	0.12825	T	0.727127	0.34152	T	0.3371174	0.56049	0.44186336	0.67456	0.3371174	0.56049	0.44186336	0.67457	-6.762	0.52276	T	.	.	0.142	0.31253	B	.	.	1.806640	0.22960	15.83	0.9898654450147979	0.49841	0.83466	0.42581	D	AEFBI	0.451692	0.50556	N	0.263445257592735	0.54307	3.596602	0.172457429291924	0.48344	3.051557	0.860710096106632	0.25219	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.76	4.85	0.62375	1.246000	0.32405	1.404000	0.26222	0.599000	0.40250	0.748000	0.29111	0.779000	0.26763	0.251000	0.23288	0.0:0.8702:0.1297:0.0	16.695	0.85192	869	0.31655	.	.	.	.	.	.	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	0.002518	0.000000	0.002717	0.000000	0.000000	0.008621	0.003049	0.003788	0.1667	1420.04	34	chr12	103705720	.	C	A	1420.04	.	AC=2;AF=0.167;AN=12;DP=216;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.56;SOR=1.038	GT:AD:DP:GQ:PL	1/1:0,45:45:99:1440,135,0	5	1	0	0
chr12	106340857	106340857	A	G	exonic	TCP11L2	.	nonsynonymous SNV	TCP11L2:NM_152772:exon9:c.A1174G:p.I392V	.	435	1082	5	0	0	5	0.00230521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00339414326258	.	0.00119808	0.0003	9.632e-05	0.0002	0	0	0.0001	0	0.0018	0.0002975	46	154602	rs144573610	0.0002	0.0002	0.0001	0.0002	0.0021	0.0001	0.0001	0.0018	0.0017	9.066e-05	9.369e-05	0	0	0	0.0005	3.153e-05	0.0001	0.0021	0.0001	0.0001	8.995e-05	0.0002	0.0023	8.659e-05	7.252e-05	0.0013	0.0010	2.406e-05	0	6.54e-05	0	0	0	0	0.0001	0	0.0023	0.337	0.12837	T	0.321	0.19073	T	0.0	0.02946	B	0.012	0.16012	B	0.003011	0.35573	N	0.307770	0.572154	0.31169	N	0.29	0.10111	N	2.23	0.18083	T	-0.09	0.08340	N	0.169	0.17966	-1.0075	0.27696	T	0.021	0.08732	T	10	0.008861154	0.00201	T	0.003394	0.07603	T	0.054	0.15330	.	.	0.171388866994	0.16791	0.08581802960568598	0.08515	0.0486988471212	0.05321	0.266134291887	0.05644	T	0.004014	0.03423	T	-0.592889	0.00161	T	-0.631205	0.10323	T	0.0131646609467332	0.00233	T	0.670533	0.27914	T	0.028451141	0.02184	0.036447026	0.03093	0.028451141	0.02183	0.036447026	0.03092	-2.716	0.07438	T	.	.	0.063	0.01449	B	.	.	0.639949	0.10083	6.832	0.88794481462090846	0.18261	0.10693	0.16126	N	AEFBI	0.051299	0.09049	N	-0.707041557917511	0.15823	0.8008658	-0.574070522005304	0.20171	1.085507	0.921078222854261	0.26658	0.615465	0.37627	0	0.588015	0.36545	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.22	2.84	0.32241	0.484000	0.22017	2.157000	0.30954	0.756000	0.94297	0.097000	0.22731	0.728000	0.26397	0.998000	0.85391	0.6941:0.0:0.1594:0.1465	4.271	0.10233	912	0.21483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	647.83	33	chr12	106340857	.	A	G	647.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.25;DP=216;ExcessHet=0;FS=1.157;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=0.266;SOR=0.95	GT:AD:DP:GQ:PL	0/1:23,24:47:99:658,0,593	5	0	1	0
chr12	109814471	109814471	T	-	exonic	TRPV4	.	frameshift deletion	TRPV4:NM_001177428:exon1:c.326delA:p.D109Afs*20,TRPV4:NM_001177433:exon1:c.326delA:p.D109Afs*20,TRPV4:NM_147204:exon1:c.326delA:p.D109Afs*20,TRPV4:NM_001177431:exon2:c.224delA:p.D75Afs*20,TRPV4:NM_021625:exon2:c.326delA:p.D109Afs*20	Brachyolmia type 3, Autosomal dominant;Digital arthropathy-brachydactyly, familial, Autosomal dominant;Hereditary motor and sensory neuropathy, type IIc, Autosomal dominant;Metatropic dysplasia, Autosomal dominant;Parastremmatic dwarfism, Autosomal dominant;SED, Maroteaux type, Autosomal dominant;Scapuloperoneal spinal muscular atrophy, Autosomal dominant;Spinal muscular atrophy, distal, congenital nonprogressive, Autosomal dominant;Spondylometaphyseal dysplasia, Kozlowski type, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1176.79	35	chr12	109814470	.	GT	G	1176.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.56;DP=251;ExcessHet=0;FS=5.884;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=-2.586;SOR=1.067	GT:AD:DP:GQ:PL	0/1:41,35:76:99:1187,0,1427	5	0	1	0
chr12	112235243	112235243	T	A	exonic	HECTD4	.	nonsynonymous SNV	HECTD4:NM_001109662:exon37:c.A5779T:p.T1927S	.	426	1095	1	0	0	1	0.000456413	.	.	.	3191692	HECTD4-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.060	0.00071054867033	0.0041	0.00139776	0.0026	0.0010	0.0007	0	0.0008	0.0042	0.0011	0.0006	0.0029624	458	154602	rs111790702	0.0052	0.0052	0.0053	0.0051	0.0064	0.0051	0.0050	0.0063	0.0062	0.0007	0.0008	0.0012	2.519e-05	0.0007	0.0019	0.0064	0.0042	0.0009	0.0028	0.0028	0.0030	0.0026	0.0054	0.0026	0.0025	0.0049	0.0047	0.0010	0	0.0005	0	0	9.416e-05	0	0.0054	0.0033	0.0008	.	.	.	0.616	0.07543	T	.	.	.	.	.	.	.	.	.	.	0.997719	0.44125	D	.	.	.	.	.	.	.	.	.	0.123	0.21969	-1.0920	0.05207	T	0.050	0.21222	T	9	0.0058683753	0.00131	T	7.11E-4	0.00454	T	0.060	0.17295	.	.	0.043077524339	0.03247	0.1659903895255529	0.16519	0.573995921077	0.53440	0.484073996544	0.36618	T	0.004906	0.04322	T	-0.557584	0.00262	T	-0.56858	0.15579	T	0.0143301920940597	0.00286	T	0.80032	0.44603	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	2.023969	0.25718	16.86	0.98910114609892907	0.48363	0.97549	0.75477	D	AEFBI	0.621250	0.60601	D	-0.101275346701701	0.37338	2.170815	0.140056368065171	0.46618	2.904872	0.864137033819218	0.25284	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	6.03	6.03	0.97798	4.671000	0.61283	6.163000	0.54371	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.815000	0.38403	0.0:0.0:0.0:1.0	16.566	0.84437	101	0.95833	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	969.83	33	chr12	112235243	.	T	A	969.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.706;DP=238;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.92;ReadPosRankSum=2.46;SOR=0.8	GT:AD:DP:GQ:PL	0/1:29,36:65:99:980,0,770	5	0	1	0
chr12	118043202	118043202	C	T	exonic	WSB2	.	nonsynonymous SNV	WSB2:NM_001278557:exon3:c.G409A:p.D137N,WSB2:NM_018639:exon3:c.G358A:p.D120N	.	427	1051	42	2	0	46	0.0214153	.	.	.	2816919	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.070	0.00669402305542	0.0033	0.00239617	0.0038	0.0009	0.0018	0	0.0003	0.0055	0.0044	0.0039	0.0038357	593	154602	rs113350351	0.0040	0.0040	0.0039	0.0041	0.0182	0.0039	0.0038	0.0154	0.0143	0.0011	0.0024	0.0014	2.519e-05	0.0004	0.0182	0.0043	0.0044	0.0046	0.0033	0.0033	0.0034	0.0031	0.0050	0.0030	0.0029	0.0045	0.0043	0.0009	0.0175	0.0034	0.0003	0	9.411e-05	0.0408	0.0049	0.0085	0.0050	0.252	0.17296	T	0.491	0.12632	T	0.001	0.07471	B	0.002	0.06944	B	0.000045	0.53742	D	0.119854	1	0.24081	N	0.69	0.16971	N	0.21	0.63240	T	-0.16	0.10480	N	0.232	0.26596	-1.0760	0.08144	T	0.078	0.31103	T	10	0.0037802756	0.00070	T	0.006694	0.17671	T	0.070	0.20419	.	.	0.102598925029	0.09809	0.23975596845584812	0.23889	0.596358103577	0.54880	0.495998084545	0.38270	T	0.003968	0.03383	T	-0.480612	0.00733	T	-0.4615	0.26436	T	0.0266200910504644	0.01491	T	0.881612	0.60121	D	0.04471084	0.07193	0.03739401	0.03382	0.04471084	0.07192	0.03739401	0.03382	-4.579	0.31907	T	.	.	0.078	0.11654	B	.;.;.;.	.;.;.;.	3.233164	0.44098	21.9	0.99325207477311128	0.59546	0.32936	0.24707	N	AEFDBI	0.109280	0.21710	N	-0.299151625837231	0.29182	1.615994	-0.102068000330382	0.35308	2.041103	0.110898214784496	0.16645	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.1	5.1	0.68917	1.885000	0.39312	5.978000	0.52118	0.599000	0.40250	0.018000	0.19461	1.000000	0.68203	0.844000	0.39860	0.0:0.8278:0.0:0.1722	7.604	0.27257	958	0.09170	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010070	0.005051	0.017663	0.000000	0.000000	0.025862	0.006098	0.007576	0.25	5872.0	34	chr12	118043202	.	C	T	5872.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.53;DP=397;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=23.21;ReadPosRankSum=-0.125;SOR=0.691	GT:AD:DP:GQ:PL	1/1:0,141:141:99:4411,423,0	4	1	1	0
chr12	119472023	119472023	G	A	exonic	CCDC60	.	nonsynonymous SNV	CCDC60:NM_178499:exon3:c.G200A:p.R67H	.	387	1130	4	0	1	5	0.00176678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.00903110420826	0.0016	0.000798722	0.0016	0.0007	0.0003	0.0001	0.0003	0.0016	0.0011	0.0047	0.0014553	225	154602	rs144740799	0.0019	0.0019	0.0018	0.0019	0.0040	0.0018	0.0018	0.0037	0.0035	0.0001	0.0006	0.0009	0	0.0003	0.0012	0.0019	0.0022	0.0040	0.0013	0.0013	0.0013	0.0012	0.0031	0.0011	0.0011	0.0020	0.0019	0.0003	0	0.0003	0.0006	0.0004	0.0002	0	0.0023	0.0009	0.0031	0.415	0.09989	T	0.006	0.70582	D	0.999	0.77913	D	0.928	0.66279	D	0.023712	0.26392	N	0.253027	0.997178	0.22763	N	2.14	0.59869	M	1.77	0.25841	T	-1.0	0.26422	N	0.16	0.16725	-1.0285	0.20940	T	0.107	0.38979	T	9	0.01216799	0.00262	T	0.009031	0.23774	T	0.109	0.30843	.	.	0.112648838833	0.10856	0.15239320060130945	0.15161	0.123474915224	0.13901	0.293538630009	0.09441	T	0.004638	0.04050	T	-0.565408	0.00236	T	-0.584268	0.14166	T	0.0138757149971108	0.00264	T	0.658834	0.26791	T	0.020152798	0.00565	0.023954498	0.00410	0.020152798	0.00564	0.023954498	0.00410	-4.299	0.28163	T	.	.	0.088	0.11749	B	.	.	2.526189	0.32649	19.11	0.99228102080110603	0.56120	0.17289	0.19772	N	AEFBI	0.046642	0.07767	N	-0.343904561740535	0.27498	1.509087	-0.490155608403071	0.22423	1.217864	2.09772574773633E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.22	2.0	0.25495	0.935000	0.28523	1.210000	0.24900	-0.700000	0.04059	0.475000	0.26761	0.596000	0.25695	0.139000	0.19909	0.399:0.0:0.601:0.0	5.457	0.15894	945	0.12563	.	.	.	.	.	.	Likely benign	0	0	0	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	0.001008	0.005051	0.000000	0.002941	0.000000	0.000000	0.000000	0.000000	0.1667	3279.04	34	chr12	119472023	.	G	A	3279.04	.	AC=2;AF=0.167;AN=12;DP=285;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=28.51;SOR=0.984	GT:AD:DP:GQ:PL	1/1:0,115:115:99:3299,343,0	5	1	0	0
chr12	122190278	122190278	A	G	exonic	LRRC43	.	nonsynonymous SNV	LRRC43:NM_001098519:exon5:c.A811G:p.I271V,LRRC43:NM_152759:exon5:c.A256G:p.I86V	.	424	1077	21	0	0	21	0.00965517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	0.0053	0.00519169	0.0083	0.0014	0.0058	0	0.0029	0.0118	0.0078	0.0068	0.0079106	1223	154602	rs138172345	0.0079	0.0079	0.0079	0.0079	0.0170	0.0078	0.0077	0.0143	0.0133	0.0015	0.0059	0.0018	2.519e-05	0.0040	0.0170	0.0088	0.0078	0.0068	0.0059	0.0059	0.0063	0.0054	0.0091	0.0056	0.0054	0.0084	0.0082	0.0013	0	0.0091	0.0012	0	0.0026	0.0204	0.0090	0.0062	0.0081	0.569	0.08660	T	0.378	0.17014	T	0.003	0.11197	B	0.002	0.06944	B	0.092924	0.20249	N	0.502634	0.715986	0.29968	N	0.67	0.16346	N	1.77	0.25841	T	-0.21	0.10833	N	0.065	0.03726	-1.0403	0.17223	T	0.027	0.11663	T	10	0.0066871643	0.00152	T	.	.	.	0.036	0.09122	.	.	0.0138822411134	0.00435	0.3813495520131008	0.38049	0.201168129084	0.22514	0.284629940987	0.08147	T	0.00407	0.03483	T	-0.69704	0.00038	T	-0.764631	0.02949	T	0.00134554433574692	0.00013	T	0.664234	0.27311	T	0.026766114	0.01775	0.035503227	0.02815	0.026766114	0.01775	0.035503227	0.02815	-6.576	0.50869	T	.	.	0.056	0.00543	B	.;.	.;.	-0.641222	0.01463	0.090	0.47841072915640814	0.03944	0.05161	0.10976	N	AEFDBI	0.049523	0.08564	N	-0.988976136601366	0.08838	0.4159826	-0.998085431549693	0.09828	0.4912543	0.0057931333139533	0.11045	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.22	-1.72	0.07671	-0.020000	0.12466	-0.542000	0.08577	-0.087000	0.16196	0.011000	0.18532	0.000000	0.08366	0.067000	0.16453	0.5653:0.0:0.4347:0.0	11.537	0.49898	759	0.50631	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014602	0.005051	0.010870	0.040936	0.000000	0.025862	0.009146	0.000000	0.25	3175.0	37	chr12	122190278	.	A	G	3175.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.442;DP=336;ExcessHet=0;FS=2.153;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=19.24;ReadPosRankSum=1.7;SOR=0.506	GT:AD:DP:GQ:PL	1/1:0,86:86:99:2509,256,0	4	1	1	0
chr12	122261404	122261404	C	G	exonic	VPS33A	.	nonsynonymous SNV	VPS33A:NM_001351018:exon4:c.G307C:p.V103L,VPS33A:NM_001351019:exon4:c.G292C:p.V98L,VPS33A:NM_001351020:exon4:c.G340C:p.V114L,VPS33A:NM_001351021:exon4:c.G340C:p.V114L,VPS33A:NM_022916:exon4:c.G340C:p.V114L	Mucopolysaccharidosis-plus syndrome, Autosomal recessive	431	1087	4	0	0	4	0.00183655	.	.	.	796708	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.590	0.0421298788128	0.0002	0.000199681	0.0002	0	0	0	0	0.0004	0.0011	0.0002	0.0002264	35	154602	rs147687101	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0002	0.0003	0.0002	0	4.49e-05	0.0017	0	3.744e-05	0.0009	0.0002	0.0003	0.0002	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0004	0.0003	2.406e-05	0	0	0.0012	0	0	0.0034	0.0005	0	0.0002	0.07	0.41364	T	0.184	0.38891	T	0.383	0.44725	B	0.209	0.38432	B	0.000116	0.50451	D	0.134219	1	0.81001	D	2.06	0.56677	M	-1.03	0.76430	T	-2.47	0.53898	N	0.868	0.86511	-0.2344	0.76771	T	0.384	0.74024	T	10	0.37747958	0.53942	T	0.04213	0.60298	D	0.590	0.83636	0.716	0.85141	0.797488088438	0.79559	0.6819127349927191	0.68130	1.05772570226	0.76365	0.856140971184	0.90538	D	0.556599	0.85082	D	0.0584038	0.59411	T	0.219567	0.84153	D	0.182331055402756	0.19381	T	0.937106	0.76374	D	0.4632658	0.64874	0.24641532	0.50150	0.4632658	0.64875	0.24641532	0.50149	-8.108	0.61805	D	0.390678423040006	0.48389	0.608	0.76349	P	.;.;.	.;.;.	3.678840	0.52350	23.2	0.9976535231407303	0.85417	0.98856	0.87762	D	AEFBI	0.895394	0.83536	D	0.409020669903422	0.61917	4.399535	0.493926474602736	0.67587	5.103996	0.999999999470803	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.11	5.11	0.69188	7.775000	0.84243	5.922000	0.51181	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.882	0.92331	664	0.61548	.;.;.	.	.	.	.	.	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	0.001008	0.000000	0.000000	0.000000	0.000000	0.008621	0.003067	0.000000	0.1667	1946.04	33	chr12	122261404	.	C	G	1946.04	.	AC=2;AF=0.167;AN=12;DP=234;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.9;SOR=1.498	GT:AD:DP:GQ:PL	1/1:0,61:61:99:1966,183,0	5	1	0	0
chr13	20142421	20142421	C	T	exonic	GJA3	.	nonsynonymous SNV	GJA3:NM_021954:exon2:c.G868A:p.A290T	Cataract 14, multiple types, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.718349891712	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1303726291	0	6.157e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	0.08483	T	0.182	0.29249	T	0.842	0.46562	P	0.196	0.36635	B	0.035475	0.01803	U	2.115620	0.585039	0.32407	D	1.845	0.48678	L	-1.64	0.82533	D	-1.05	0.27463	N	0.042	0.01498	-0.6314	0.63511	T	0.337	0.70379	T	10	0.26456702	0.43945	T	0.71835	0.97719	D	0.234	0.53644	0.355	0.35571	0.571483254199	0.56815	0.41800567713649955	0.41716	0.951642404872	0.72659	0.570982456207	0.48817	T	0.039422	0.25185	T	-0.0789273	0.39890	T	-0.35115	0.39072	T	0.305588603019714	0.25233	T	0.39866	0.10107	T	0.032549515	0.03302	0.06917602	0.14541	0.032549515	0.03302	0.06917602	0.14541	-4.747	0.33968	T	0.14806455686347395	0.17210	0.073	0.04599	B	.	.	0.628882	0.09975	6.728	0.98354022951196873	0.40578	0.33854	0.24928	N	AEFDBI	0.242672	0.36408	N	-0.621019597708456	0.18314	0.9497947	-0.718942425066962	0.16490	0.8725381	0.999988460628295	0.51787	0.59774	0.34471	0	0.610034	0.51514	0	0.578056	0.29568	0	0.63947	0.58350	0	.	.	4.41	2.66	0.30672	0.500000	0.22270	0.048000	0.13961	0.463000	0.21641	0.033000	0.20612	0.000000	0.08366	0.015000	0.10482	0.1525:0.6031:0.1604:0.084	4.559	0.11550	758	0.50837	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	212.83	41	chr13	20142421	.	C	T	212.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.802;DP=185;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.65;ReadPosRankSum=1.67;SOR=0.763	GT:AD:DP:GQ:PL	0/1:21,11:32:99:223,0,617	5	0	1	0
chr13	25097840	25097840	G	A	exonic	PABPC3	.	nonsynonymous SNV	PABPC3:NM_030979:exon1:c.G1642A:p.A548T	.	434	1078	10	0	0	10	0.00461681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	0.00311820690249	0.0002	0.000399361	0.0004	0	0.0006	0	0	0.0001	0	0.0021	0.0003622	56	154602	rs144664628	0.0002	0.0002	0.0001	0.0002	0.0024	0.0002	0.0001	0.0015	0.0014	0	0.0002	0.0002	0	0	0.0024	5.666e-05	0.0002	0.0017	0.0002	0.0002	0.0001	0.0003	0.0015	0.0001	0.0001	0.0007	0.0005	2.406e-05	0	0.0009	0	0	9.422e-05	0	8.821e-05	0.0005	0.0015	0.034	0.44029	D	0.022	0.57587	D	0.946	0.53363	P	0.741	0.55725	P	0.000270	0.46590	U	0.000000	0.999956	0.52396	D	2.73	0.79844	M	0.68	0.51952	T	-3.46	0.67705	D	0.377	0.41853	-0.6925	0.60792	T	0.214	0.57547	T	10	0.030691624	0.01198	T	0.003118	0.06786	T	0.195	0.47612	.	.	0.849862203633	0.84841	0.3689139773879063	0.36805	0.475443501588	0.46719	0.57855963707	0.49882	T	0.160812	0.50481	T	-0.115078	0.33930	T	-0.403078	0.33025	T	0.234807255499918	0.22179	T	0.922208	0.71716	D	0.53119737	0.68899	0.343417	0.60053	0.53119737	0.68900	0.343417	0.60053	-5.721	0.43880	T	.	.	0.096	0.15430	B	.	.	1.924661	0.24443	16.40	0.99442095276376274	0.64820	0.87212	0.46684	D	AEFDBI	0.280518	0.39432	N	0.195321122889574	0.50973	3.282513	-0.0171879914428716	0.38939	2.301353	0.904557029819873	0.26181	0.693126	0.56070	0	0.659464	0.62310	0	0.723109	0.80598	0	0.530356	0.10902	0	.	.	0.875	0.875	0.18266	6.963000	0.75848	7.652000	0.63756	0.356000	0.20028	1.000000	0.71638	1.000000	0.68203	0.003000	0.05239	0.0:0.0:1.0:0.0	7.549	0.26951	929	0.16858	Polyadenylate-binding protein/Hyperplastic disc protein|Polyadenylate-binding protein/Hyperplastic disc protein	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001082	0.000000	0.000000	0.000000	0.000000	0.017241	0.000000	0.000000	0.08333	1755.83	137	chr13	25097840	.	G	A	1755.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.47;DP=709;ExcessHet=0;FS=0.709;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.14;ReadPosRankSum=-0.776;SOR=0.807	GT:AD:DP:GQ:PL	0/1:47,69:116:99:1766,0,1320	5	0	1	0
chr13	26046551	26046551	T	A	exonic	SHISA2	.	nonsynonymous SNV	SHISA2:NM_001007538:exon2:c.A850T:p.N284Y	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0220345973182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.048	0.48594	D	0.303	0.32643	B	0.172	0.35394	B	0.726064	0.09894	N	0.890348	1	0.08975	N	0.695	0.17993	N	0.85	0.47130	T	-0.4	0.13805	N	0.205	0.22742	-1.0006	0.29746	T	0.087	0.33718	T	10	0.085318	0.14392	T	0.022035	0.44885	T	0.035	0.08770	0.271	0.22052	0.104622674875	0.10061	0.24484370468038627	0.24398	0.628220077563	0.56899	0.346118330956	0.17349	T	0.062023	0.31806	T	-0.160938	0.26615	T	-0.468953	0.25630	T	0.220535272689395	0.21491	T	0.716728	0.32905	T	0.07985174	0.18265	0.078415826	0.17560	0.07985174	0.18265	0.078415826	0.17560	-2.593	0.06450	T	.	.	0.220	0.45011	B	.	.	2.006530	0.25495	16.78	0.9618138955506208	0.28960	0.44089	0.27242	N	AEFDBI	0.228800	0.35241	N	-0.654932771089314	0.17317	0.8900356	-0.662898836776341	0.17892	0.9533813	0.999997097490087	0.74766	0.67177	0.52595	0	0.59043	0.45803	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.05	3.88	0.43959	1.781000	0.38274	2.835000	0.35045	0.665000	0.62972	0.009000	0.18154	0.234000	0.23804	0.686000	0.33718	0.0:0.1492:0.0:0.8508	9.402	0.37598	854	0.34840	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1692.83	37	chr13	26046551	.	T	A	1692.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.731;DP=287;ExcessHet=0;FS=1.562;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.67;ReadPosRankSum=-1.457;SOR=0.899	GT:AD:DP:GQ:PL	0/1:46,62:108:99:1703,0,1281	5	0	1	0
chr13	39655845	39655845	A	G	exonic	COG6	.	nonsynonymous SNV	COG6:NM_001145079:exon1:c.A119G:p.H40R,COG6:NM_020751:exon1:c.A119G:p.H40R	Congenital disorder of glycosylation, type IIl, Autosomal recessive;Shaheen syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1031369	Inborn_genetic_diseases|COG6-congenital_disorder_of_glycosylation|Hypohidrosis-enamel_hypoplasia-palmoplantar_keratoderma-intellectual_disability_syndrome	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013810,MedGen:C3553230,OMIM:614576,Orphanet:464443|MONDO:MONDO:0014131,MedGen:C3809160,OMIM:615328,Orphanet:363523	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.075	0.0219749498029	7.7e-05	.	9.714e-05	0.0002	0.0004	0.0002	0	0	0	0.0002	5.17e-05	8	154602	rs148246113	2.613e-05	2.6e-05	2.325e-05	2.904e-05	0.0001	1.942e-05	1.701e-05	8.081e-05	6.302e-05	0	0.0001	0	2.536e-05	0	0	1.532e-05	3.337e-05	0.0001	2.625e-05	2.625e-05	1.284e-05	4.027e-05	0.0002	8.13e-06	5.14e-06	7.97e-06	2.98e-06	4.809e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	0.142	0.25457	T	0.498	0.11263	T	0.0	0.02946	B	0.0	0.01387	B	0.000184	0.48115	N	0.203652	0.987092	0.40534	D	1.59	0.40313	L	1.37	0.34253	T	-0.09	0.08340	N	0.077	0.12341	-1.0895	0.05616	T	0.045	0.19316	T	10	0.07580289	0.11763	T	0.021975	0.44819	T	0.075	0.21907	.	.	0.117506650769	0.11410	0.283169443793151	0.28229	0.0621865798848	0.06921	0.366268128157	0.20295	T	0.004276	0.40432	T	-0.350123	0.04720	T	-0.476276	0.24844	T	0.145387293282262	0.16731	T	0.80002	0.44558	T	0.15473598	0.35007	0.19188923	0.42672	0.15473598	0.35007	0.19188923	0.42671	-11.788	0.83802	D	0.06719033633330704	0.02345	0.128	0.33755	B	.;.;.	.;.;.	2.799107	0.36817	20.3	0.97470232005752522	0.34131	0.91351	0.53358	D	ALL	0.648059	0.62301	D	-0.34429090066593	0.27483	1.508164	-0.135615355392028	0.33966	1.948642	0.999999999999997	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.29	4.11	0.47350	5.405000	0.66094	3.536000	0.38979	0.658000	0.54486	1.000000	0.71638	0.994000	0.32194	0.921000	0.45669	0.9119:0.0:0.0881:0.0	9.383	0.37487	663	0.61610	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	792.83	53	chr13	39655845	.	A	G	792.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.206;DP=286;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=-0.89;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,23:57:99:0|1:39655820_T_A:803,0,1333:39655820	5	0	1	0
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00348779331928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0058	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0001	2.239e-05	0.0002	0.0001	0	0.0004	0.0002	0.0001	5.842e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732	0.03787	T	0.652	0.06690	T	0.0	0.02946	B	0.0	0.01387	B	0.384222	0.04439	N	1.329080	1	0.08975	N	-0.695	0.01866	N	1.03	0.40469	T	0.12	0.05604	N	0.01	0.00095	-1.0487	0.14761	T	0.025	0.10553	T	10	0.03053692	0.01181	T	0.003488	0.07908	T	0.040	0.10527	0.282	0.23801	0.174091166621	0.17034	0.08873411500846382	0.08806	0.0437477432083	0.04714	0.247362196445	0.03495	T	0.00156	0.01004	T	-0.357409	0.04279	T	-0.75117	0.03440	T	0.0190869918422606	0.00616	T	0.254375	0.03921	T	0.018132178	0.00335	0.025108913	0.00546	0.018132178	0.00334	0.025108913	0.00545	-2.626	0.06703	T	.	.	0.106	0.19839	B	.	.	-0.851205	0.01010	0.042	0.27875280092314592	0.01405	0.12762	0.17464	N	AEFBCI	0.031390	0.03350	N	-1.67084211627419	0.00950	0.04116467	-1.65714055191059	0.01339	0.06045885	0.999931029354219	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-6.75	0.01575	0.231000	0.17651	-0.238000	0.10617	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2747:0.1624:0.2842:0.2787	0.459	0.00478	675	0.60470	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	1267.52	115	chr13	42303097	.	G	C	1267.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-3.834;DP=634;ExcessHet=6.1542;FS=339.863;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.67;ReadPosRankSum=0.639;SOR=10.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:47,24:71:99:.:.:102,0,911:.	1	0	5	0
chr13	45541572	45541572	G	A	exonic	ERICH6B	.	nonsynonymous SNV	ERICH6B:NM_182542:exon15:c.C1981T:p.L661F	.	435	1060	24	3	0	30	0.0139535	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	.	0.0059	0.00319489	0.0068	0.0009	0.0098	0	0.0012	0.0131	0.0041	0.0027	0.0020763	321	154602	rs118131230	0.0060	0.0058	0.0060	0.0060	0.0249	0.0059	0.0059	0.0216	0.0203	0.0010	0.0056	0.0304	0	0.0021	0.0249	0.0061	0.0065	0.0031	0.0053	0.0052	0.0057	0.0048	0.0096	0.0050	0.0048	0.0084	0.0079	0.0014	0.0208	0.0096	0.0277	0	0.0005	0.0136	0.0062	0.0104	0.0046	0.012	0.54683	D	0.039	0.51112	D	0.958	0.54977	D	0.74	0.55692	P	.	.	.	.	1	0.08975	N	0.55	0.14455	N	2.7	0.12162	T	-1.52	0.36980	N	0.029	0.00666	-1.0064	0.28034	T	0.017	0.06998	T	9	0.0059939027	0.00134	T	.	.	.	0.143	0.38195	.	.	0.0138822411134	0.00435	0.06028303386795886	0.05968	.	.	0.34393966198	0.17026	T	0.012169	0.10741	T	-0.629699	0.00096	T	-0.67329	0.07399	T	0.0277630436079749	0.01654	T	0.415458	0.10884	T	0.0994786	0.23479	0.09321838	0.22008	0.0994786	0.23478	0.09321838	0.22007	-6.045	0.46654	T	.	.	0.176	0.38462	B	.	.	0.570962	0.09394	6.175	0.96452178420449319	0.29869	0.01569	0.05125	N	AEFDBI	0.051998	0.09241	N	-1.19097024255193	0.05136	0.2334203	-1.40265345314207	0.03225	0.1500218	0.999900077794579	0.45458	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.89	-7.05	0.01418	-0.978000	0.03888	-0.717000	0.07722	-0.923000	0.02187	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2412:0.511:0.2478	7.489	0.26617	706	0.57215	.	.	.	.	.	.	Likely benign	0	0	0	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	0.019370	0.010526	0.059701	0.022321	0.000000	0.041667	0.011765	0.000000	0.08333	472.83	37	chr13	45541572	.	G	A	472.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.812;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.16;ReadPosRankSum=-1.084;SOR=0.736	GT:AD:DP:GQ:PL	0/1:43,23:66:99:483,0,1116	5	0	1	0
chr13	59971024	59971024	G	A	exonic	DIAPH3	.	nonsynonymous SNV	DIAPH3:NM_001258370:exon10:c.C998T:p.P333L,DIAPH3:NM_030932:exon10:c.C998T:p.P333L,DIAPH3:NM_001258367:exon14:c.C1649T:p.P550L,DIAPH3:NM_001258368:exon14:c.C1577T:p.P526L,DIAPH3:NM_001258366:exon15:c.C1754T:p.P585L,DIAPH3:NM_001042517:exon16:c.C1787T:p.P596L,DIAPH3:NM_001258369:exon16:c.C1787T:p.P596L	Auditory neuropathy, autosomal dominant, 1, Autosomal dominant	0	1461	59	2	0	63	0.0211055	.	.	.	504315	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.304	.	0.0040	0.00778754	0.0085	0.0008	0.0062	0.0001	0.0014	0.0060	0.0089	0.0318	0.0076778	1187	154602	rs150023947	0.0063	0.0063	0.0055	0.0072	0.0319	0.0062	0.0062	0.0309	0.0305	0.0006	0.0044	0.0296	0.0001	0.0011	0.0119	0.0044	0.0086	0.0319	0.0047	0.0047	0.0042	0.0052	0.0251	0.0044	0.0043	0.0215	0.0201	0.0008	0.0461	0.0051	0.0300	0	0.0016	0.0034	0.0043	0.0085	0.0251	0.005	0.68238	D	0.001	0.83351	D	0.125	0.30817	B	0.028	0.30031	B	0.000959	0.40932	D	0.247452	1	0.81001	D	2.25	0.63811	M	-2.15	0.86481	D	-5.16	0.84246	D	0.291	0.33469	-0.2568	0.76174	T	0.415	0.76211	T	10	0.0070751607	0.00161	T	.	.	.	0.304	0.62510	.	.	0.931659697617	0.93095	0.43640497725947763	0.43557	0.595140059168	0.54798	0.630806744099	0.57260	T	0.154959	0.49648	T	-0.235202	0.15967	T	-0.0869431	0.64391	T	0.0280072759026319	0.01689	T	0.813719	0.56350	T	0.23259822	0.46050	0.23462705	0.48684	0.23259822	0.46050	0.23462705	0.48683	-8.137	0.63445	D	.	.	0.096	0.16451	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.435212	0.47760	22.5	0.98970279956217821	0.49520	0.96298	0.68457	D	AEFDBI	0.657088	0.62884	D	-0.00404400910006807	0.41672	2.496801	0.127604620753477	0.45966	2.850574	0.999999997408739	0.74766	0.675385	0.55134	0	0.633656	0.55848	0	0.693117	0.63056	0	0.655142	0.61905	0	.	.	5.27	4.41	0.52588	5.930000	0.69823	6.163000	0.54371	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.749000	0.35751	0.0765:0.0:0.9235:0.0	13.275	0.59617	908	0.22609	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.012601	0.000000	0.010870	0.011696	0.050000	0.000000	0.021472	0.018939	0.08333	399.83	35	chr13	59971024	.	G	A	399.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.06;DP=211;ExcessHet=0;FS=2.943;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=0.202;SOR=0.505	GT:AD:DP:GQ:PL	0/1:24,15:39:99:410,0,710	5	0	1	0
chr13	69882456	69882456	G	A	exonic	KLHL1	.	nonsynonymous SNV	KLHL1:NM_001286725:exon4:c.C871T:p.L291F,KLHL1:NM_020866:exon5:c.C1054T:p.L352F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0648284192983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.021	0.63109	D	0.998	0.73220	D	0.992	0.80445	D	0.000036	0.55875	D	0.000000	0.986518	0.40444	D	2.89	0.83701	M	-0.39	0.69158	T	-2.91	0.60982	D	0.547	0.58629	0.346	0.88281	D	0.580	0.84898	D	10	0.5550405	0.64469	D	0.064828	0.69397	D	0.426	0.73372	0.457	0.52265	0.77630264569	0.77424	0.20463235290269857	0.20380	0.210258746393	0.23511	0.712280154228	0.68924	T	0.595999	0.86982	D	0.0531689	0.58749	T	-0.161403	0.58226	T	0.988282024860382	0.78636	D	0.964204	0.86724	D	0.46265322	0.64836	0.37256262	0.62462	0.46265322	0.64837	0.37256262	0.62462	-10.752	0.78280	D	.	.	0.481	0.63722	A	.;.	.;.	5.474448	0.91308	32	0.99901283922638506	0.97275	0.94895	0.62702	D	AEFI	0.697597	0.65555	D	0.812871305168358	0.86905	9.037639	0.740323524884371	0.85433	8.578981	0.985978107960792	0.30982	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	3.554000	0.53466	11.664000	0.94021	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.834	0.92121	907	0.22727	BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	490.96	102	chr13	69882456	.	G	A	490.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.995;DP=617;ExcessHet=3.1439;FS=210.877;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.31;ReadPosRankSum=0.597;SOR=10.694	GT:AD:DP:GQ:PL	0/1:44,22:69:82:82,0,750	2	0	4	0
chr13	75807577	75807577	A	T	exonic	LMO7	.	nonsynonymous SNV	LMO7:NM_001366634:exon7:c.A313T:p.I105L,LMO7:NM_001366636:exon7:c.A313T:p.I105L,LMO7:NM_015842:exon7:c.A595T:p.I199L,LMO7:NM_001330583:exon8:c.A595T:p.I199L,LMO7:NM_001366632:exon8:c.A595T:p.I199L,LMO7:NM_001366633:exon8:c.A1168T:p.I390L,LMO7:NM_001306080:exon10:c.A1294T:p.I432L	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	.	0.0091	0.00179712	0.0065	0.0018	0.0016	0.0001	0.0065	0.0100	0.0056	0.0019	0.0065782	1017	154602	rs78174524	0.0085	0.0085	0.0088	0.0081	0.0101	0.0084	0.0083	0.0100	0.0099	0.0013	0.0019	0.0008	0	0.0073	0.0007	0.0101	0.0064	0.0024	0.0061	0.0061	0.0064	0.0058	0.0104	0.0058	0.0056	0.0098	0.0095	0.0016	0.0022	0.0038	0.0006	0.0002	0.0069	0	0.0104	0.0028	0.0019	0.005	0.63226	D	0.17	0.60337	T	.	.	.	.	.	.	0.000001	0.84330	D	0.060346	0.954934	0.81001	D	.	.	.	0.65	0.52642	T	-1.0	0.26422	N	0.646	0.65758	-0.8556	0.51577	T	0.111	0.39770	T	10	0.0088840425	0.00201	T	.	.	.	0.111	0.31313	.	.	0.722757827694	0.72031	0.1485105400605865	0.14773	0.274421442702	0.29933	0.514845311642	0.40901	T	0.039901	0.30554	T	-0.364786	0.03867	T	-0.286378	0.46147	T	0.0305361055353315	0.02072	T	0.863414	0.58002	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.54551	B	.;.;.;.;.	.;.;.;.;.	3.254943	0.44492	21.9	0.98747142519838871	0.45602	0.93949	0.59660	D	AEFBI	0.523114	0.54685	D	0.471901499529771	0.65455	4.824804	0.51366059100339	0.68906	5.285418	0.9999986461877	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.72	5.72	0.89380	3.536000	0.53338	8.017000	0.76214	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.8544:0.0:0.1456:0.0	8.413	0.31814	940	0.13648	.;.;.;.;.	LMO7DN	Skin_Sun_Exposed_Lower_leg	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.010101	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1010.83	36	chr13	75807577	.	A	T	1010.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.358;DP=248;ExcessHet=0;FS=3.105;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=-1.735;SOR=0.674	GT:AD:DP:GQ:PL	0/1:34,41:75:99:1021,0,882	5	0	1	0
chr13	102740391	102740391	G	A	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.C10306T:p.R3436W	.	424	1046	49	3	0	55	0.0256171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0061901	0.0157	0.0023	0	0	0	0.0072	0.0105	0.0306	0.0032794	507	154602	rs117074021	0.0094	0.0090	0.0087	0.0101	0.0299	0.0092	0.0092	0.0289	0.0285	0.0015	0.0038	0.0013	2.8e-05	0.0058	0.0208	0.0088	0.0099	0.0299	0.0060	0.0060	0.0063	0.0057	0.0237	0.0057	0.0055	0.0202	0.0188	0.0016	0	0.0042	0.0009	0.0004	0.0044	0.0238	0.0088	0.0043	0.0237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	0.0030212104	0.00049	T	.	.	.	.	.	.	.	.	.	0.0961978917482667	0.09551	.	.	0.254358440638	0.04241	T	.	.	.	-0.526409	0.00403	T	-0.507297	0.21594	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.27880	B	.	.	1.077765	0.14608	11.17	0.57589132933474618	0.05803	0.00835	0.03355	N	AEFBI	.	.	.	.	.	.	.	.	.	0.799362739752337	0.24158	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0503841	0.09711	3.58	1.15	0.19876	-0.032000	0.12217	-0.419000	0.09297	-0.785000	0.03297	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1956:0.0:0.2288:0.5756	4.231	0.10056	951	0.11083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.021021	0.006579	0.000000	0.024272	0.000000	0.071429	0.043478	0.031250	0.08333	1782.83	82	chr13	102740391	.	G	A	1782.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.752;DP=497;ExcessHet=0;FS=2.45;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.5;ReadPosRankSum=2.06;SOR=0.493	GT:AD:DP:GQ:PL	0/1:46,69:115:99:1793,0,1028	5	0	1	0
chr13	109055516	109055516	T	C	exonic	MYO16	.	nonsynonymous SNV	MYO16:NM_001198950:exon27:c.T3256C:p.Y1086H,MYO16:NM_015011:exon27:c.T3190C:p.Y1064H	.	438	1081	3	0	0	3	0.00138568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.882	0.122972801827	.	.	8.257e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs763155900	6.844e-07	6.84e-07	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.002261	0.36887	U	0.000000	0.999981	0.54805	D	3.21	0.89262	M	-2.33	0.87910	D	-4.52	0.78302	D	0.937	0.94314	0.960	0.96543	D	0.854	0.95128	D	9	0.9596411	0.95358	D	0.122973	0.80405	D	0.882	0.96539	0.788	0.91068	0.970186557371	0.96986	0.636437529230742	0.63577	0.840192823762	0.68019	0.697085618973	0.66723	T	0.623108	0.92583	D	0.425081	0.91281	D	0.372823	0.91172	D	0.986272215843201	0.77035	D	.	.	.	0.48032087	0.65920	0.53959674	0.73392	0.48032087	0.65921	0.53959674	0.73392	-5.413	0.41044	T	0.5984528006292101	0.66541	0.537	0.66234	A	.;.;.	.;.;.	3.774202	0.54225	23.5	0.99869835030238396	0.94726	0.97427	0.74681	D	AEFGI	0.844451	0.76141	D	0.749767461015604	0.82890	7.875849	0.625404952096059	0.76788	6.556377	0.999999695725234	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.21	5.21	0.72005	6.969000	0.75879	5.046000	0.46955	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	14.296	0.65865	969	0.06854	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class XVI myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class XVI myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class XVI myosin, motor 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	.	.	.	.	.	.	.	.	0.08333	753.83	33	chr13	109055516	.	T	C	753.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.706;DP=244;ExcessHet=0;FS=0.938;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=-0.223;SOR=0.657	GT:AD:DP:GQ:PL	0/1:34,31:65:99:764,0,847	5	0	1	0
chr13	112547565	112547565	C	0	exonic	TUBGCP3	.	.	.	.	443	851	116	13	99	241	0.0770065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	7447.74	183	chr13	112547565	.	C	*	7447.74	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.42;DP=585;ExcessHet=0.1336;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=20.8;ReadPosRankSum=1.67;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,41:92:99:.:.:1818,131,0:.	5	1	0	0
chr13	113403958	113403958	C	T	exonic	LOC101928841	.	nonsynonymous SNV	LOC101928841:NM_001304433:exon2:c.G4232A:p.R1411Q,LOC101928841:NM_001375393:exon2:c.G4232A:p.R1411Q	.	885	636	1	0	0	1	0.000785546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs918824847	2.038e-05	2.464e-05	2.2e-05	1.859e-05	0.0003	1.357e-05	1.133e-05	1.231e-05	8.05e-06	0	0	0	7.438e-05	0	0.0003	1.681e-05	8.692e-05	0	7.894e-05	0.0001	0.0001	4.426e-05	0.0006	4.327e-05	3.387e-05	0.0002	8.707e-05	0	0	0	0	0.0006	0	0	0.0001	0	0	.	.	.	0.587	0.08302	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.02366	.	.	.	.	.	.	.	0.06409907	0.08450	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006202	0.05637	T	.	.	.	.	.	.	.	.	.	0.339966	0.07337	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05711	B	.	.	-0.834522	0.01041	0.044	0.74631023425162712	0.10767	0.06468	0.12476	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.998189511547482	0.36545	0.07523	0.01759	0	0.109994	0.03358	0	0.044551	0.00207	1	0.079188	0.02158	0	0.0551177	0.12729	0.14	0.14	0.14101	-0.240000	0.08970	-0.831000	0.07256	-1.619000	0.00871	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1381.83	184	chr13	113403958	.	C	T	1381.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.649;DP=906;ExcessHet=0;FS=1.549;MLEAC=1;MLEAF=0.083;MQ=59.9;MQRankSum=-1.377;QD=4.85;ReadPosRankSum=-0.953;SOR=0.594	GT:AD:DP:GQ:PL	0/1:199,86:285:99:1392,0,4568	5	0	1	0
chr13	113404102	113404108	TGTTCCC	0	exonic	LOC101928841	.	.	.	.	1076	408	24	0	14	38	0.0285714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	397.47	54	chr13	113404102	.	TGTTCCC	*	397.47	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.563;DP=608;ExcessHet=1.383;FS=0;MLEAC=1;MLEAF=0.083;MQ=56.33;MQRankSum=1.73;QD=1.14;ReadPosRankSum=-1.26;SOR=0.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:22,189:211:99:.:.:187,0,599:.	5	0	1	0
chr13	113404110	113404111	AG	0	exonic	LOC101928841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	415.47	50	chr13	113404110	.	AG	*	415.47	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.136;DP=522;ExcessHet=1.383;FS=0.839;MLEAC=1;MLEAF=0.083;MQ=55.95;MQRankSum=1.83;QD=1.21;ReadPosRankSum=-1.463;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:22,189:211:99:.:.:187,0,599:.	5	0	1	0
chr13	113404112	113404117	CCCGTT	0	exonic	LOC101928841	.	.	.	.	1091	394	23	0	14	37	0.02836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	427.47	51	chr13	113404112	.	CCCGTT	*	427.47	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.56;DP=518;ExcessHet=1.383;FS=0.405;MLEAC=1;MLEAF=0.083;MQ=55.78;MQRankSum=1.88;QD=1.26;ReadPosRankSum=-1.645;SOR=0.73	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:22,189:211:99:.:.:187,0,599:.	5	0	1	0
chr13	113404126	113404126	C	0	exonic	LOC101928841	.	.	.	.	1158	327	24	0	13	37	0.0353982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	246.04	37	chr13	113404126	.	C	*	246.04	.	AC=1;AF=0.125;AN=8;BaseQRankSum=0.376;DP=448;ExcessHet=1.383;FS=0.914;MLEAC=1;MLEAF=0.125;MQ=56.19;MQRankSum=1.61;QD=0.8;ReadPosRankSum=-1.31;SOR=0.637	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:22,189:211:99:.:.:187,0,599:.	3	0	1	2
chr13	113404129	113404129	T	0	exonic	LOC101928841	.	.	.	.	1141	345	24	0	12	36	0.0336134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	171.51	34	chr13	113404129	.	T	*	171.51	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.424;DP=439;ExcessHet=1.383;FS=0;MLEAC=1;MLEAF=0.083;MQ=55.83;MQRankSum=1.36;QD=0.57;ReadPosRankSum=-1.682;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:22,189:211:99:.:.:187,0,599:.	5	0	1	0
chr13	113404131	113404131	C	0	exonic	LOC101928841	.	.	.	.	1143	343	24	0	12	36	0.0338028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	135.51	34	chr13	113404131	.	C	*	135.51	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.288;DP=429;ExcessHet=1.383;FS=0.449;MLEAC=1;MLEAF=0.083;MQ=55.95;MQRankSum=1.17;QD=0.46;ReadPosRankSum=-1.965;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:22,189:211:99:.:.:187,0,599:.	5	0	1	0
chr14	18973173	18973173	T	C	exonic	POTEM	.	nonsynonymous SNV	POTEM:NM_001145442:exon3:c.T776C:p.L259P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.539	0.00512438160922	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1315955289	0.0111	0.0010	0.0149	0.0079	0.0610	0.0087	0.0079	0.0240	0.0156	0.0610	0.0167	0.0900	0	0	0	0.0066	0.0421	0	0.0152	0.0037	0.0250	0	0.0455	0	0	.	.	0.0455	.	0	0	0	0	.	0	.	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.083019	0.20777	N	0.343745	1	0.81001	D	.	.	.	-0.69	0.72678	T	-5.83	0.88361	D	0.696	0.70088	0.266	0.86999	D	0.669	0.88542	D	10	0.8865901	0.87988	D	0.005124	0.13001	T	.	.	0.736	0.86892	0.480198768302	0.47651	0.3495240716718446	0.34866	.	.	0.853858351707	0.90195	D	0.21271	0.57383	T	0.203558	0.74224	D	0.0546211	0.73888	D	0.912439933887655	0.56834	D	0.853215	0.53849	D	0.28856376	0.51858	0.26489595	0.52315	0.28856376	0.51858	0.26489595	0.52314	-10.809	0.78600	D	.	.	0.866	0.80671	P	.	.	3.455147	0.48129	22.6	0.99560948784063852	0.71769	0.80109	0.39836	D	AEFI	0.254166	0.37354	N	0.233580678797722	0.52832	3.455045	-0.0674021320681316	0.36747	2.142483	3.42758929391048E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.87	1.87	0.24559	4.869000	0.62723	.	.	0.312000	0.19173	1.000000	0.71638	0.907000	0.28067	0.003000	0.05239	0.0:0.0:0.0:1.0	5.779	0.17561	.	.	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	44.33	.	chr14	18973173	.	T	C	44.33	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-0.967;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=25;MQRankSum=0;QD=14.78;ReadPosRankSum=-0.967;SOR=1.179	GT:AD:DP:GQ:PL	0/1:1,2:3:21:50,0,21	2	0	1	3
chr14	20556541	20556541	G	A	exonic	RNASE9	.	nonsynonymous SNV	RNASE9:NM_001001673:exon2:c.C529T:p.R177C,RNASE9:NM_001110356:exon3:c.C529T:p.R177C,RNASE9:NM_001110357:exon3:c.C529T:p.R177C,RNASE9:NM_001110358:exon4:c.C544T:p.R182C,RNASE9:NM_001110360:exon4:c.C544T:p.R182C,RNASE9:NM_001289110:exon4:c.C529T:p.R177C,RNASE9:NM_001110359:exon5:c.C544T:p.R182C,RNASE9:NM_001110361:exon5:c.C544T:p.R182C	.	.	.	.	.	.	.	.	.	.	.	2208632	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.103	0.0100433373566	7.7e-05	.	2.483e-05	0	0	0	0	3.01e-05	0	6.089e-05	1.94e-05	3	154602	rs139929154	2.669e-05	2.736e-05	2.723e-05	2.613e-05	0.0003	1.998e-05	1.754e-05	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	2.879e-05	0	5.797e-05	3.944e-05	4.597e-05	2.57e-05	5.383e-05	0.0001	1.716e-05	1.13e-05	4.74e-05	3.054e-05	0.0001	0	0	0	0	0	0	1.47e-05	0	0	0.006	0.61437	D	0.028	0.54934	D	0.136	0.27347	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-0.66	0.72348	T	-0.15	0.09297	N	0.086	0.07811	-1.0319	0.19841	T	0.111	0.39982	T	9	0.040963203	0.02709	T	0.010043	0.26102	T	0.103	0.29403	.	.	0.256283259241	0.25257	0.27092348254148185	0.27005	0.115005616732	0.12974	0.403885513544	0.25609	T	0.004386	0.03788	T	-0.345517	0.05015	T	-0.55256	0.17080	T	0.0891381949186325	0.11115	T	0.547145	0.18749	T	0.10314071	0.24376	0.05944043	0.11157	0.10314071	0.24376	0.05944043	0.11156	-3.421	0.15340	T	.	.	0.283	0.52310	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	1.484314	0.19102	14.09	0.87843834912885976	0.17523	0.00717	0.03025	N	AEFBI	0.040658	0.06076	N	-1.43162297720078	0.02365	0.1043649	-1.51666559178945	0.02216	0.1015638	0.999488012636715	0.39952	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.73	-4.62	0.03129	-0.205000	0.09413	-0.703000	0.07785	-0.261000	0.06906	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.355:0.1136:0.3659:0.1655	1.454	0.02238	946	0.12043	Ribonuclease A-domain;Ribonuclease A-domain;Ribonuclease A-domain;Ribonuclease A-domain;.;.;Ribonuclease A-domain;Ribonuclease A-domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1084.83	72	chr14	20556541	.	G	A	1084.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.8;DP=355;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.5;ReadPosRankSum=0.594;SOR=0.798	GT:AD:DP:GQ:PL	0/1:28,42:70:99:1095,0,612	5	0	1	0
chr14	23268936	23268936	C	T	exonic	RNF212B	.	nonsynonymous SNV	RNF212B:NM_001282322:exon12:c.C647T:p.P216L,RNF212B:NM_001370218:exon13:c.C647T:p.P216L	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.0191894921159	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs762439751	8.584e-05	8.346e-05	7.622e-05	9.572e-05	0.0007	7.321e-05	6.851e-05	0.0002	0.0001	0	0	3.972e-05	5.597e-05	0	0.0007	9.365e-05	0.0001	6.313e-05	7.884e-05	7.88e-05	6.422e-05	9.416e-05	0.0006	4.496e-05	3.512e-05	0.0002	8.985e-05	4.825e-05	0	0	0	0.0002	0	0	8.818e-05	0	0.0006	0.004	0.65419	D	0.148	0.32675	T	.	.	.	.	.	.	0.069866	0.21577	U	0.234305	0.998801	0.45475	D	.	.	.	.	.	.	-0.36	0.13035	N	0.381	0.42247	-0.6663	0.61995	T	0.222	0.58537	T	7	0.15646243	0.29467	T	0.019189	0.41484	T	0.067	0.19503	0.158	0.06178	0.449860987313	0.44609	0.1573781085115101	0.15658	.	.	.	.	.	0.022645	0.17425	T	-0.165052	0.25985	T	-0.219816	0.52755	T	0.263939347452083	0.23486	T	0.69863	0.30863	T	0.09161035	0.21470	0.11406899	0.27532	0.09161035	0.21469	0.11406899	0.27532	-3.754	0.20119	T	.	.	0.153	0.33868	B	.;.	.;.	4.512093	0.70673	25.6	0.99797386219756601	0.88283	0.94231	0.60513	D	AEFBI	0.640482	0.61816	D	0.305225314325245	0.56417	3.806316	0.40359816074111	0.61787	4.383999	0.998588537814233	0.37247	0.516011	0.20929	0	0.588066	0.40923	0	0.59043	0.30614	0	0.586402	0.36253	0	.	.	5.49	5.49	0.81022	3.787000	0.55144	5.872000	0.50545	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:1.0:0.0:0.0	16.302	0.82659	856	0.34373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1019.83	33	chr14	23268936	.	C	T	1019.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.062;DP=267;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=-0.807;SOR=0.709	GT:AD:DP:GQ:PL	0/1:54,44:98:99:1030,0,1297	5	0	1	0
chr14	26479985	26479985	T	A	exonic	NOVA1	.	nonsynonymous SNV	NOVA1:NM_001366392:exon3:c.A436T:p.I146F,NOVA1:NM_001366393:exon3:c.A328T:p.I110F,NOVA1:NM_001366394:exon3:c.A328T:p.I110F,NOVA1:NM_001366397:exon3:c.A73T:p.I25F,NOVA1:NM_001366398:exon3:c.A73T:p.I25F,NOVA1:NM_002515:exon3:c.A439T:p.I147F,NOVA1:NM_006489:exon3:c.A439T:p.I147F,NOVA1:NM_006491:exon3:c.A439T:p.I147F,NOVA1:NM_001366390:exon4:c.A73T:p.I25F,NOVA1:NM_001366391:exon4:c.A73T:p.I25F,NOVA1:NM_001366395:exon4:c.A73T:p.I25F,NOVA1:NM_001366396:exon4:c.A73T:p.I25F	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.0142680739496	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.702	0.68238	T	0.702	0.61642	T	0.358	0.51899	B	0.056	0.46572	B	0.000004	0.62929	D	0.000000	0.999988	0.58761	D	.	.	.	-0.03	0.63077	T	-0.53	0.47514	N	0.318	0.54496	-0.9236	0.45056	T	0.153	0.48274	T	10	0.23617679	0.40694	T	0.014268	0.34274	T	0.107	0.30369	.	.	0.243187853663	0.23924	0.5888855550744568	0.58818	1.06954850592	0.76764	0.785284996033	0.79727	T	0.038894	0.25002	T	-0.00188073	0.51394	T	-0.240478	0.50752	T	0.840488851070404	0.49367	D	0.953405	0.87955	D	.	.	.	.	.	.	.	.	-4.269	0.30454	T	.	.	0.202	0.45726	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.509256	0.49139	22.7	0.97816796564827746	0.36168	0.95968	0.66939	D	AEFBI	0.841889	0.75904	D	0.0435257875118338	0.43846	2.669578	0.218878901315161	0.50894	3.276902	0.988169421284569	0.31434	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	5.61	5.61	0.85347	4.956000	0.63350	7.891000	0.73051	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.798	0.78201	951	0.11083	.;.;.;K Homology domain;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	876.83	34	chr14	26479985	.	T	A	876.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.521;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-1.108;SOR=0.602	GT:AD:DP:GQ:PL	0/1:41,36:77:99:887,0,1073	5	0	1	0
chr14	33774394	33774394	G	A	exonic	NPAS3	.	nonsynonymous SNV	NPAS3:NM_001165893:exon7:c.G820A:p.V274I,NPAS3:NM_022123:exon7:c.G814A:p.V272I,NPAS3:NM_001164749:exon8:c.G910A:p.V304I,NPAS3:NM_173159:exon8:c.G871A:p.V291I	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.0100704251111	.	0.000399361	0.0001	0.0006	8.637e-05	0	0.0003	0	0	0.0003	0.0001164	18	154602	rs146677388	5.952e-05	5.951e-05	5.173e-05	6.738e-05	0.0005	4.883e-05	4.562e-05	0.0003	0.0003	0.0005	0.0002	0	0	9.36e-05	0.0002	2.968e-05	9.936e-05	0.0002	0.0002	0.0002	0.0001	0.0002	0.0005	0.0001	0.0001	0.0004	0.0003	0.0005	0	0.0002	0	0	9.422e-05	0	2.94e-05	0	0	0.128	0.30656	T	0.239	0.27679	T	0.011	0.19245	B	0.01	0.14941	B	0.000031	0.55875	D	0.069730	1	0.81001	D	1.7	0.43825	L	3.48	0.07024	T	-0.32	0.12283	N	0.274	0.38335	-1.0337	0.19268	T	0.026	0.11087	T	10	0.056904346	0.06453	T	0.01007	0.26169	T	0.067	0.19503	.	.	0.082315109003	0.07666	0.49650296973735303	0.49571	0.630830873063	0.57057	0.627574086189	0.56801	T	0.005867	0.32199	T	-0.388018	0.02770	T	-0.478982	0.24554	T	0.0510794892907143	0.05689	T	0.842916	0.53996	T	0.10905936	0.25784	0.1366592	0.32687	0.15496616	0.35047	0.15441456	0.36241	-5.77	0.46447	T	.	.	0.070	0.05360	B	.;.;.;.;.;.	.;.;.;.;.;.	3.683325	0.52444	23.2	0.99633144280058195	0.76142	0.98781	0.86770	D	AEFBI	0.857286	0.77463	D	0.123913392129609	0.47579	2.98175	0.328984456978409	0.57249	3.890001	1.0	0.98316	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.69	5.69	0.88346	8.072000	0.89294	5.858000	0.50403	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.806	0.96527	898	0.25240	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1735.83	40	chr14	33774394	.	G	A	1735.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.28;DP=329;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=0.277;SOR=0.752	GT:AD:DP:GQ:PL	0/1:70,70:140:99:1746,0,1516	5	0	1	0
chr14	35689851	35689851	C	T	exonic	RALGAPA1	.	nonsynonymous SNV	RALGAPA1:NM_001283043:exon17:c.G2419A:p.V807I,RALGAPA1:NM_001330075:exon17:c.G2419A:p.V807I,RALGAPA1:NM_001346243:exon17:c.G2419A:p.V807I,RALGAPA1:NM_001346246:exon17:c.G2419A:p.V807I,RALGAPA1:NM_001346248:exon17:c.G2419A:p.V807I,RALGAPA1:NM_014990:exon17:c.G2419A:p.V807I,RALGAPA1:NM_194301:exon17:c.G2419A:p.V807I,RALGAPA1:NM_001283044:exon18:c.G2560A:p.V854I,RALGAPA1:NM_001346245:exon18:c.G2560A:p.V854I,RALGAPA1:NM_001346247:exon18:c.G2560A:p.V854I,RALGAPA1:NM_001346249:exon18:c.G2560A:p.V854I	.	725	796	1	0	0	1	0.000627746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.319	0.030283371086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.27904	T	0.533	0.26386	T	0.304	0.44504	B	0.072	0.44145	B	0.000026	0.55875	D	0.119203	0.976716	0.39301	D	.	.	.	-3.37	0.94210	D	-0.38	0.15379	N	0.176	0.19728	0.339	0.88171	D	0.708	0.89944	D	10	0.23672855	0.40759	T	0.030283	0.52630	D	0.319	0.64112	0.149	0.05238	0.636924601929	0.63393	0.1875806999833343	0.18676	0.825580734265	0.67386	0.440639585257	0.30664	T	0.013644	0.11764	T	0.05461	0.58933	T	-0.159333	0.58413	T	0.941145002841949	0.61412	D	0.963704	0.86510	D	0.083430745	0.19267	0.09890448	0.23595	0.083430745	0.19267	0.09890448	0.23594	-3.669	0.19673	T	0.23637029680836424	0.32007	0.098	0.22135	B	.;.;.;.;.	.;.;.;.;.	4.120576	0.61586	24.4	0.98533538465680159	0.42620	0.96236	0.68162	D	AEFDGBI	0.391567	0.46996	N	0.182625503685076	0.50364	3.227208	0.341162687793885	0.57978	3.96578	1.0	0.98316	0.489673	0.17934	0	0.596877	0.49441	0	0.602189	0.34648	0	0.662433	0.64102	0	.	.	5.9	5.9	0.94952	3.102000	0.49982	4.948000	0.46261	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.279	0.98503	567	0.70732	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	725.83	34	chr14	35689851	.	C	T	725.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.532;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=58.26;MQRankSum=-0.6;QD=16.13;ReadPosRankSum=-1.131;SOR=0.627	GT:AD:DP:GQ:PL	0/1:20,25:45:99:736,0,679	5	0	1	0
chr14	50443957	50443957	C	G	exonic	MAP4K5	.	nonsynonymous SNV	MAP4K5:NM_006575:exon19:c.G1419C:p.K473N,MAP4K5:NM_198794:exon19:c.G1419C:p.K473N	.	431	1024	62	5	0	72	0.0339623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	.	0.0066	0.00539137	0.0140	0.0015	0.0161	0	0.0099	0.0169	0.0215	0.0192	0.0083958	1298	154602	rs35768475	0.0075	0.0075	0.0070	0.0080	0.0297	0.0074	0.0073	0.0261	0.0247	0.0011	0.0074	0.0311	5.063e-05	0.0052	0.0297	0.0068	0.0092	0.0142	0.0066	0.0067	0.0067	0.0066	0.0087	0.0063	0.0062	0.0081	0.0079	0.0013	0	0.0082	0.0276	0	0.0066	0.0272	0.0087	0.0147	0.0079	0.028	0.46129	D	0.174	0.30045	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999965	0.52935	D	.	.	.	-0.82	0.74053	T	-2.33	0.51646	N	0.299	0.33796	-0.2612	0.76055	T	0.422	0.76677	T	9	0.0042360723	0.00085	T	.	.	.	0.343	0.66488	0.419	0.46036	0.557661990297	0.55426	0.43804407463647294	0.43721	0.86124622319	0.68974	0.740895748138	0.73105	T	.	.	.	-0.425966	0.01569	T	-0.372971	0.36541	T	0.018003772233958	0.00525	T	0.891611	0.62654	D	0.33619976	0.55975	0.21171997	0.45611	0.33619976	0.55975	0.21171997	0.45610	-8.058	0.61465	D	.	.	0.605	0.69086	P	.	.	3.334347	0.45915	22.2	0.99806612893956281	0.89085	0.84800	0.43890	D	AEFBI	0.157098	0.28255	N	0.0455395370400721	0.43936	2.677043	0.0421915496554164	0.41695	2.509357	0.42880509924559	0.20353	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.44	2.67	0.30756	0.509000	0.22414	-0.199000	0.10963	0.599000	0.40250	1.000000	0.71638	0.245000	0.23879	1.000000	0.97212	0.0:0.6265:0.0:0.3735	8.648	0.33178	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.024169	0.010101	0.023098	0.029240	0.000000	0.051724	0.033537	0.018939	0.08333	648.83	41	chr14	50443957	.	C	G	648.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.675;DP=247;ExcessHet=0;FS=2.094;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=-0.644;SOR=1.063	GT:AD:DP:GQ:PL	0/1:34,31:65:99:659,0,939	5	0	1	0
chr14	58138194	58138194	A	G	exonic	ARMH4	.	nonsynonymous SNV	ARMH4:NM_001001872:exon2:c.T1165C:p.S389P,ARMH4:NM_001320173:exon2:c.T1165C:p.S389P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.00991569293664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.003	0.76473	D	0.989	0.62824	D	0.885	0.62825	P	0.214351	0.16289	N	0.566984	1	0.08975	N	.	.	.	1.68	0.27184	T	-2.49	0.54217	N	0.17	0.18103	-1.0535	0.13440	T	0.102	0.37568	T	10	0.1590898	0.29900	T	0.009916	0.25833	T	0.182	0.45420	0.374	0.38667	0.0666544352282	0.05500	0.13696643335137432	0.13620	0.121842658127	0.13733	.	.	.	0.025561	0.19086	T	-0.0273703	0.47799	T	-0.277092	0.47102	T	0.522264003753662	0.33449	D	0.49655	0.15423	T	0.24250986	0.47179	0.2958181	0.55614	0.24250986	0.47179	0.2958181	0.55613	-4.12	0.25584	T	.	.	0.088	0.11749	B	.	.	1.334307	0.17401	13.14	0.99607788779664785	0.74634	0.04756	0.10462	N	AEFGBCI	0.103078	0.20660	N	-0.222407257448638	0.32215	1.814444	-0.420636230168889	0.24392	1.335448	0.999940150298763	0.47345	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	5.86	2.08	0.26079	0.156000	0.16200	1.252000	0.25176	0.751000	0.87719	0.001000	0.13787	0.087000	0.22477	0.167000	0.20881	0.4904:0.4346:0.075:0.0	7.430	0.26296	875	0.30485	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	67.94	35	chr14	58138194	.	A	G	67.94	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.995;DP=483;ExcessHet=0;FS=64.663;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.61;ReadPosRankSum=-0.983;SOR=5.89	GT:AD:DP:GQ:PL	0/1:94,18:112:78:78,0,2155	5	0	1	0
chr14	58213644	58213644	T	C	exonic	ACTR10	.	nonsynonymous SNV	ACTR10:NM_018477:exon6:c.T464C:p.I155T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.0362747916202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0026	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0002	0	8.123e-05	7.948e-05	1.955e-05	0	0.0003	0.0002	7.24e-05	6.639e-06	2.641e-05	0	1.359e-05	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-05	0	0	0.35	0.12305	T	0.45	0.12957	T	0.0	0.02946	B	0.001	0.04355	B	0.000051	0.53742	D	0.197305	0.974077	0.39075	D	0.06	0.08197	N	-3.44	0.94428	D	-1.31	0.32791	N	0.456	0.49328	0.114	0.84424	D	0.666	0.88403	D	10	0.36079857	0.52715	T	0.036275	0.56887	D	0.324	0.64624	0.434	0.48500	0.993195394259	0.99311	0.5930593215126997	0.59235	0.374889918543	0.38946	0.782578408718	0.79317	T	0.399172	0.75708	T	0.0213512	0.54564	T	-0.207107	0.53971	T	0.59854531288147	0.36343	D	0.833317	0.50212	T	0.060931925	0.12560	0.09373129	0.22154	0.060931925	0.12560	0.09373129	0.22154	-5.421	0.41121	T	.	.	0.486	0.63951	A	.	.	3.186553	0.43278	21.7	0.8580340382623457	0.16122	0.91508	0.53678	D	AEFBI	0.213280	0.33888	N	-0.111420387238393	0.36894	2.138883	0.0755270437198708	0.43321	2.636326	0.9557581108309	0.28208	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.8	5.8	0.92081	4.582000	0.60668	7.707000	0.66598	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.500000	0.29017	0.0:0.0786:0.0:0.9214	9.930	0.40688	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	442.52	21	chr14	58213644	.	T	C	442.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.935;DP=298;ExcessHet=6.1542;FS=360.341;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.66;ReadPosRankSum=1.36;SOR=9	GT:AD:DP:GQ:PL	0/1:42,18:60:47:47,0,836	1	0	5	0
chr14	64158707	64158707	T	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.T15875C:p.M5292T,SYNE2:NM_182914:exon86:c.T15875C:p.M5292T	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00538161103081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245310548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.099	0.45039	T	0.026	0.60972	D	0.013	0.16609	B	0.009	0.14300	B	0.041119	0.23984	N	0.401918	0.999988	0.54805	D	1.655	0.42436	L	1.39	0.33842	T	-2.65	0.59710	D	0.474	0.55280	-1.0841	0.06572	T	0.073	0.29675	T	10	0.19718808	0.35641	T	0.005382	0.13801	T	0.143	0.38195	0.536	0.64585	0.319402600006	0.31557	0.3253330187294607	0.32446	0.0539322971594	0.05956	0.529864430428	0.43015	T	0.035396	0.50140	T	-0.123387	0.32572	T	-0.415013	0.31648	T	0.172842237501572	0.18771	T	0.611639	0.23235	T	0.08136348	0.18690	0.15216553	0.35812	0.08136348	0.18690	0.15216553	0.35811	-3.679	0.21014	T	.	.	0.191	0.41000	B	.;.;.;.;.	.;.;.;.;.	1.354212	0.17625	13.27	0.893201424526746	0.18696	0.58238	0.30589	D	AEFGBI	0.052091	0.09265	N	-0.429603788888434	0.24437	1.31946	-0.336983711819935	0.26915	1.489921	0.0805734006329366	0.15850	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	3.35	0.37468	0.797000	0.26660	0.426000	0.18273	0.661000	0.55757	1.000000	0.71638	0.995000	0.32472	1.000000	0.97212	0.0:0.0746:0.1466:0.7788	7.200	0.25051	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	579.42	77	chr14	64158707	.	T	C	579.42	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.587;DP=539;ExcessHet=6.1542;FS=180.799;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.33;ReadPosRankSum=1.52;SOR=9.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:57,24:81:67:.:.:67,0,966:.	1	0	5	0
chr14	73491733	73491733	A	G	exonic	RIOX1	.	nonsynonymous SNV	RIOX1:NM_024644:exon1:c.A716G:p.Q239R	.	428	1042	50	2	0	54	0.0252572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.00179712	0.0057	0.0010	0.0094	0	0	0.0111	0.0068	0.0026	0.0023868	369	154602	rs45506292	0.0045	0.0044	0.0043	0.0046	0.0374	0.0044	0.0043	0.0333	0.0317	0.0016	0.0028	0.0035	5.558e-05	0.0003	0.0374	0.0049	0.0054	0.0021	0.0036	0.0036	0.0038	0.0034	0.0058	0.0033	0.0032	0.0053	0.0052	0.0010	0.0011	0.0031	0.0026	0	0.0004	0.0476	0.0058	0.0095	0.0025	.	.	.	0.518	0.10536	T	0.004	0.12183	B	0.021	0.19346	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.057	0.02861	.	.	.	.	.	.	.	0.004604161	0.00096	T	.	.	.	.	.	.	.	0.126345400529	0.12197	0.5207341239320942	0.51996	.	.	.	.	.	0.006441	0.05872	T	-0.446726	0.01180	T	-0.410463	0.32173	T	.	.	.	0.664234	0.27311	T	0.2471527	0.47690	0.4145235	0.65593	0.2471527	0.47690	0.4145235	0.65593	-3.701	0.19333	T	.	.	0.064	0.01622	B	.	.	1.958293	0.24878	16.56	0.87932557959955016	0.17590	0.83000	0.42157	D	ALL	.	.	.	.	.	.	.	.	.	0.999999999995253	0.74766	0.075627	0.01787	0	0.149826	0.03527	2	0.012449	0.00143	3	0.143876	0.04018	0	0.817998	0.48765	5.09	3.91	0.44383	1.642000	0.36823	1.028000	0.23458	0.658000	0.54486	1.000000	0.71638	0.985000	0.30750	0.996000	0.76049	0.7077:0.1503:0.1419:0.0	5.832	0.17840	306	0.87689	JmjC 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	0.031218	0.010753	0.037190	0.040936	0.100000	0.026316	0.024691	0.022901	0.1667	2586.06	99	chr14	73491733	.	A	G	2586.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.713;DP=510;ExcessHet=0.4139;FS=1.199;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=-0.181;SOR=0.834	GT:AD:DP:GQ:PL	0/1:23,59:82:99:1390,0,539	4	0	2	0
chr14	74286696	74286696	G	A	exonic	ABCD4	.	nonsynonymous SNV	ABCD4:NM_001353607:exon15:c.C968T:p.P323L,ABCD4:NM_001353594:exon16:c.C1445T:p.P482L,ABCD4:NM_001353601:exon16:c.C1280T:p.P427L,ABCD4:NM_001353606:exon16:c.C968T:p.P323L,ABCD4:NM_001353608:exon16:c.C968T:p.P323L,ABCD4:NM_001353592:exon17:c.C1631T:p.P544L,ABCD4:NM_001353599:exon17:c.C1280T:p.P427L,ABCD4:NM_001353600:exon17:c.C1280T:p.P427L,ABCD4:NM_001353609:exon17:c.C968T:p.P323L,ABCD4:NM_020325:exon18:c.C1757T:p.P586L	Methylmalonic aciduria and homocystinuria, cblJ type, Autosomal recessive	0	1507	15	0	0	15	0.00495213	0.0009	0.038	.	505516	ABCD4-related_disorder|Methylmalonic_acidemia_with_homocystinuria,_type_cblJ|not_specified|not_provided	.|MONDO:MONDO:0013925,MedGen:C3553915,OMIM:614857,Orphanet:369955|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.163	.	.	0.00878594	0.0059	0.0003	0.0002	0.0001	0	0	0.0055	0.0423	0.0050776	785	154602	rs370270229	0.0026	0.0026	0.0016	0.0037	0.0415	0.0025	0.0025	0.0403	0.0399	8.961e-05	0	0	0	0	0.0031	2.338e-05	0.0033	0.0415	0.0014	0.0014	0.0007	0.0022	0.0439	0.0013	0.0012	0.0390	0.0372	4.81e-05	0	6.54e-05	0	0.0004	0	0	4.41e-05	0	0.0439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	1382.83	41	chr14	74286696	.	G	A	1382.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.61;DP=309;ExcessHet=0;FS=0.743;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-0.629;SOR=0.816	GT:AD:DP:GQ:PL	0/1:58,49:107:99:1393,0,1632	5	0	1	0
chr14	94497802	94497802	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G596A:p.G199D,SERPINA12:NM_001382267:exon2:c.G596A:p.G199D,SERPINA12:NM_173850:exon3:c.G596A:p.G199D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0188046605053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455963195	6.871e-07	2.052e-06	0	1.382e-06	2.524e-05	0	0	.	.	0	0	0	2.524e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.08660	T	0.657	0.06576	T	0.011	0.15914	B	0.017	0.18140	B	0.251813	0.15493	N	0.613802	1	0.08975	N	0.66	0.16226	N	-2.05	0.85799	D	-1.46	0.35792	N	0.148	0.15046	-0.8956	0.48427	T	0.266	0.63727	T	10	0.040331542	0.02593	T	0.018805	0.40992	T	0.133	0.36157	0.432	0.48171	0.216624796971	0.21254	0.6112549893490689	0.61057	0.100516046514	0.11355	0.37503361702	0.21551	T	0.03395	0.23124	T	-0.223248	0.17552	T	-0.389328	0.34630	T	0.0576949219063508	0.06800	T	0.584142	0.21248	T	0.26295173	0.49358	0.10561278	0.25391	0.26295173	0.49358	0.10561278	0.25390	-1.722	0.02287	T	.	.	0.224	0.49509	B	.;.	.;.	2.009921	0.25536	16.80	0.080949235166052638	0.00057	0.07238	0.13262	N	AEFCI	0.065923	0.12884	N	-0.924847551878464	0.10263	0.4896058	-0.843139383567271	0.13453	0.6979405	0.0132140536699464	0.12433	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.69	0.30923	-0.172000	0.09858	0.548000	0.19395	0.599000	0.40250	0.000000	0.06391	0.008000	0.19753	0.813000	0.38311	0.1769:0.4335:0.0:0.3895	3.621	0.07640	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1167.3	85	chr14	94497802	.	C	T	1167.3	.	AC=4;AF=0.5;AN=8;BaseQRankSum=0.282;DP=483;ExcessHet=3.1439;FS=349.365;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=3.75;ReadPosRankSum=-0.071;SOR=9.401	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:44,35:79:99:.:.:387,0,648:.	0	0	4	2
chr14	103587321	103587321	G	A	exonic	COA8	.	nonsynonymous SNV	COA8:NM_001302652:exon4:c.G433A:p.E145K,COA8:NM_001370595:exon4:c.G433A:p.E145K,COA8:NM_001302653:exon5:c.G521A:p.G174E	.	434	1084	3	1	0	5	0.00230097	.	.	.	1673774	not_provided|Mitochondrial_complex_4_deficiency,_nuclear_type_17	MedGen:C3661900|MONDO:MONDO:0033652,MedGen:C5436718,OMIM:619061	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.159	0.0241504579155	.	0.000199681	9.132e-05	0	0	0	0	7.568e-05	0	0.0004	7.76e-05	12	154602	rs562472810	7.05e-05	7.046e-05	4.767e-05	9.356e-05	0.0009	5.916e-05	5.525e-05	0.0004	0.0004	0	2.241e-05	0	0	0	0.0009	4.228e-05	8.286e-05	0.0005	3.944e-05	3.938e-05	3.859e-05	4.033e-05	0.0004	1.716e-05	1.13e-05	7.293e-05	3.03e-05	0	0	0	0	0	0	0	5.883e-05	0	0.0004	0.233	0.61437	T	0.422	0.92824	T	0.801	0.45051	P	0.339	0.42346	B	0.025408	0.26093	N	0.434151	0.981394	0.25042	N	1.87	0.49600	L	0.87	0.46412	T	-2.15	0.48687	N	0.37	0.45992	-1.0050	0.28457	T	0.094	0.35551	T	10	0.11069894	0.20700	T	0.02415	0.47134	T	0.159	0.41286	.	.	0.49908893446	0.49543	0.22311857579520908	0.22226	0.164175052021	0.22694	.	.	.	0.011599	0.10324	T	-0.284799	0.10166	T	-0.336352	0.40758	T	0.098538315313443	0.12196	T	0.907909	0.67446	D	0.09443751	0.22203	0.1596996	0.37232	0.09443751	0.22203	0.1596996	0.37232	-3.853	0.21599	T	.	.	0.202	0.67560	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.271212	0.29029	17.99	0.9980145951358621	0.88639	0.82634	0.41835	D	AEFI	0.471559	0.51705	N	-0.169786759042494	0.34397	1.962769	-0.0715123900155883	0.36572	2.130154	0.954451321020977	0.28132	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.91	5.02	0.66742	3.454000	0.52750	6.366000	0.55516	-0.117000	0.14459	1.000000	0.71638	1.000000	0.68203	0.337000	0.25363	0.0845:0.0:0.9155:0.0	11.065	0.47190	851	0.35303	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	486.83	34	chr14	103587321	.	G	A	486.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.667;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=-0.036;SOR=0.788	GT:AD:DP:GQ:PL	0/1:33,21:54:99:497,0,805	5	0	1	0
chr14	104883146	104883146	C	A	exonic	CEP170B	.	nonsynonymous SNV	CEP170B:NM_015005:exon7:c.C479A:p.T160K,CEP170B:NM_001112726:exon8:c.C689A:p.T230K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.54535221239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.99999	0.58761	D	3.165	0.88605	M	0.79	0.49068	T	-5.05	0.84035	D	0.597	0.68255	-0.3070	0.74790	T	0.307	0.67768	T	10	0.75032794	0.75589	D	0.545352	0.95785	D	0.362	0.68230	0.296	0.26041	0.432587166891	0.42875	0.785510120291914	0.78502	0.785854350698	0.65505	0.661141514778	0.61573	T	0.403752	0.76041	T	0.0471387	0.57973	T	-0.170065	0.57437	T	0.998185575008392	0.93453	D	0.948305	0.80045	D	.	.	.	.	.	.	.	.	-13.357	0.93364	D	.	.	0.553	0.68669	A	.;.;.	.;.;.	3.734745	0.53444	23.4	0.98746391134915312	0.45587	0.99441	0.96068	D	AEFDBI	0.891661	0.82783	D	0.499213835116537	0.67045	5.029483	0.359664656357954	0.59092	4.084221	0.999999999985141	0.74766	0.706548	0.73137	0	0.547309	0.14657	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	3.32	3.32	0.37134	7.731000	0.83835	3.893000	0.40305	0.524000	0.24156	1.000000	0.71638	0.999000	0.35428	0.783000	0.37026	0.0:1.0:0.0:0.0	14.774	0.69325	976	0.04745	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1084.83	36	chr14	104883146	.	C	A	1084.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.38;DP=270;ExcessHet=0;FS=4.552;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=-0.62;SOR=1.262	GT:AD:DP:GQ:PL	0/1:37,38:75:99:1095,0,881	5	0	1	0
chr14	104944556	104944556	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C10595T:p.T3532I,AHNAK2:NM_138420:exon7:c.C10895T:p.T3632I	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0130735102392	0.0002	0.000399361	0.0002	0	0.0007	0	0	0.0003	0	0.0001	0.0002329	36	154602	rs202237811	0.0001	0.0001	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	8.963e-05	0.0004	0	0	0	0.0026	0.0001	0.0002	0.0001	0.0001	0.0001	0.0002	0.0001	0.0006	9.765e-05	8.276e-05	0.0002	0.0002	0	0	0.0005	0	0	0	0.0034	0.0002	0	0.0006	0.175	0.22400	T	0.245	0.24054	T	0.358	0.33818	B	0.11	0.31460	B	.	.	.	.	1	0.08975	N	1.78	0.46185	L	5.86	0.00639	T	-1.03	0.27052	N	0.14	0.13911	-0.9405	0.42536	T	0.004	0.01159	T	9	0.016932905	0.00359	T	0.013074	0.32181	T	0.033	0.08068	.	.	0.0401082797425	0.02173	0.010944020111439067	0.01055	.	.	0.2281909585	0.01836	T	0.02077	0.16293	T	-0.517433	0.00455	T	-0.633861	0.10123	T	0.0228993454467245	0.01012	T	0.486851	0.14885	T	0.038488995	0.05137	0.03578337	0.02895	0.038488995	0.05137	0.03578337	0.02895	-8.278	0.62949	D	.	.	0.159	0.35098	B	.	.	1.511782	0.19420	14.25	0.81535265342177599	0.13733	0.03752	0.09057	N	AEFBI	.	.	.	-0.670152928697176	0.16876	0.8636414	-0.789697700629114	0.14747	0.7721846	1.37143271644235E-4	0.05486	0.706548	0.73137	0	0.547309	0.14657	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.11	1.88	0.24630	-0.110000	0.10794	-9.866000	0.00767	0.660000	0.55035	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1073:0.0:0.5615:0.3313	5.857	0.17976	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	4433.83	252	chr14	104944556	.	G	A	4433.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.452;DP=1386;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.99;MQRankSum=0;QD=13.81;ReadPosRankSum=0.468;SOR=0.685	GT:AD:DP:GQ:PL	0/1:154,167:321:99:4444,0,4089	5	0	1	0
chr14	104953797	104953797	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G1354A:p.D452N,AHNAK2:NM_138420:exon7:c.G1654A:p.D552N	.	411	1040	68	3	0	74	0.0343547	.	.	.	2807606	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.019	.	0.0069	0.00798722	0.0082	0.0015	0.0071	0	0.0005	0.0101	0.0111	0.0130	0.0078718	1217	154602	rs45448397	0.0073	0.0073	0.0069	0.0077	0.0406	0.0072	0.0071	0.0363	0.0347	0.0022	0.0066	0.0321	7.557e-05	0.0007	0.0406	0.0066	0.0105	0.0137	0.0067	0.0067	0.0067	0.0066	0.0110	0.0063	0.0062	0.0097	0.0092	0.0018	0	0.0110	0.0343	0.0006	0.0006	0.0306	0.0083	0.0114	0.0104	0.842	0.02796	T	0.408	0.14633	T	0.021	0.18474	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	0	0.06538	N	4.03	0.03149	T	-0.08	0.08187	N	0.1	0.08227	-0.9097	0.46891	T	0.003	0.00832	T	9	0.0041176975	0.00081	T	.	.	.	0.019	0.03383	.	.	0.0297737177859	0.01360	0.0316760095331914	0.03116	.	.	0.185123771429	0.00150	T	0.022655	0.17431	T	-0.727118	0.00025	T	-0.8062	0.01752	T	0.00461407943591834	0.00049	T	0.309269	0.05988	T	0.016435066	0.00197	0.024356974	0.00454	0.016435066	0.00197	0.024356974	0.00454	-4.588	0.32020	T	.	.	0.109	0.20934	B	.	.	-0.342790	0.02437	0.277	0.97984752298087319	0.37356	0.08243	0.14197	N	AEFDBI	0.071796	0.14307	N	-1.45363581998287	0.02188	0.09635179	-1.48412917277304	0.02474	0.1138519	0.07631154992444	0.15723	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.96	-3.51	0.04397	-1.192000	0.03161	-2.796000	0.03352	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.105:0.2143:0.4064:0.2743	3.143	0.06076	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.031219	0.000000	0.031250	0.058480	0.150000	0.060345	0.021341	0.026515	0.1667	4421.06	54	chr14	104953797	.	C	T	4421.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.573;DP=631;ExcessHet=0.4139;FS=1.759;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-0.38;SOR=0.589	GT:AD:DP:GQ:PL	0/1:69,73:142:99:1953,0,1870	4	0	2	0
chr14	105384439	105384439	A	G	exonic	PACS2	.	nonsynonymous SNV	PACS2:NM_001100913:exon17:c.A1867G:p.N623D,PACS2:NM_001243127:exon17:c.A1630G:p.N544D,PACS2:NM_015197:exon17:c.A1855G:p.N619D	.	406	1115	1	0	0	1	0.000448229	.	.	.	1487833	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.081	0.0136879277412	.	.	2.705e-05	0	9.256e-05	0	0	3.269e-05	0	0	1.94e-05	3	154602	rs782192283	6.167e-06	6.156e-06	2.727e-06	9.641e-06	6.712e-05	2.9e-06	2.1e-06	1.78e-05	8.93e-06	0	6.712e-05	0	0	0	0	4.499e-06	1.657e-05	0	1.971e-05	1.97e-05	2.569e-05	1.345e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.28	0.15509	T	0.639	0.07617	T	0.459	0.36338	P	0.122	0.32387	B	0.008500	0.30815	N	0.364292	0.866946	0.35491	D	0.73	0.18813	N	1.09	0.39223	T	-1.26	0.32185	N	0.385	0.44283	-1.0316	0.19937	T	0.043	0.18326	T	10	0.19423854	0.35226	T	0.013688	0.33283	T	0.081	0.23632	0.528	0.63412	0.343804874344	0.33996	0.17998056246027572	0.17917	.	.	0.516947865486	0.41196	T	0.052532	0.29189	T	-0.420304	0.01703	T	-0.643871	0.09390	T	0.260347694158554	0.23330	T	0.886911	0.61435	D	0.095382415	0.22446	0.09587724	0.22758	0.095382415	0.22446	0.09587724	0.22757	-9.287	0.70542	D	0.08508765298003712	0.04764	0.144	0.41708	B	.;.;.;.	.;.;.;.	3.562651	0.50139	22.9	0.97690467039268603	0.35370	0.86942	0.46339	D	AEFBI	0.290254	0.40168	N	-0.383652048306168	0.26051	1.418832	-0.210759621954468	0.31148	1.760107	0.794980204088583	0.24083	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.44	4.44	0.53164	3.183000	0.50619	5.871000	0.50535	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.468000	0.28296	0.8256:0.0:0.0:0.1744	8.429	0.31905	976	0.04745	.;.;.;.	.	.	.	.	.	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	0.08333	658.83	34	chr14	105384439	.	A	G	658.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.3;DP=240;ExcessHet=0;FS=5.001;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=-1.466;SOR=0.96	GT:AD:DP:GQ:PL	0/1:31,29:60:99:669,0,721	5	0	1	0
chr14	105493850	105493850	C	T	exonic	TEDC1	.	nonsynonymous SNV	TEDC1:NM_001134875:exon5:c.C601T:p.R201C,TEDC1:NM_001367178:exon5:c.C601T:p.R201C	.	428	1052	41	1	0	43	0.0200279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	.	0.0023	0.0081869	0.0063	0.0020	0.0033	0.0001	0.0016	0.0046	0.0104	0.0229	0.0054721	846	154602	rs118022421	0.0043	0.0043	0.0038	0.0049	0.0217	0.0042	0.0042	0.0208	0.0205	0.0020	0.0033	0.0048	0.0001	0.0014	0.0198	0.0032	0.0061	0.0217	0.0035	0.0035	0.0033	0.0037	0.0183	0.0033	0.0032	0.0152	0.0141	0.0017	0	0.0047	0.0066	0.0002	0.0017	0.0171	0.0036	0.0057	0.0183	0.059	0.45039	T	0.004	0.83351	D	0.999	0.77913	D	0.764	0.56591	P	0.064810	0.02182	N	2.001050	1	0.08975	N	.	.	.	.	.	.	-3.3	0.77143	D	0.165	0.29429	-1.0384	0.17802	T	0.081	0.31913	T	9	0.005352378	0.00117	T	.	.	.	0.072	0.21020	.	.	0.254761474806	0.25079	0.10644456044551831	0.10574	0.0186173050877	0.01812	.	.	.	0.057185	0.30495	T	-0.398785	0.02358	T	-0.329347	0.41542	T	0.022512283648584	0.00967	T	0.915408	0.70532	D	0.13811046	0.31954	0.08930856	0.20877	0.13811046	0.31954	0.08930856	0.20876	-5.798	0.44557	T	.	.	0.132	0.42806	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.156229	0.27469	17.47	0.99686127378478306	0.79574	0.04473	0.10084	N	AEFBCI	0.102646	0.20585	N	-0.45759505220874	0.23484	1.261407	-0.687308798504235	0.17277	0.9179845	0.99958066070294	0.40607	0.695654	0.57023	0	0.379588	0.06130	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.37	0.148	0.14137	-0.558000	0.06069	0.043000	0.13895	-0.189000	0.09497	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2255:0.5452:0.0:0.2293	2.895	0.05340	940	0.13648	Domain of unknown function DUF4509;Domain of unknown function DUF4509;Domain of unknown function DUF4509;.;Domain of unknown function DUF4509;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.023209	0.010309	0.017711	0.029240	0.050000	0.025862	0.024390	0.022727	0.08333	1682.83	34	chr14	105493850	.	C	T	1682.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.02;DP=327;ExcessHet=0;FS=1.324;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=1.06;SOR=0.582	GT:AD:DP:GQ:PL	0/1:76,73:149:99:1693,0,1664	5	0	1	0
chr15	20535254	20535254	G	A	exonic	GOLGA6L6	.	nonsynonymous SNV	GOLGA6L6:NM_001145004:exon8:c.C1180T:p.R394C	.	660	857	5	0	0	5	0.00290867	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	.	.	0.0220	0	0	0	.	0.0340	0	0.0241	0.0001153	3	26028	rs753318256	0.0104	0.0097	0.0101	0.0106	0.0155	0.0102	0.0101	0.0121	0.0118	0.0017	0.0041	0.0167	3.058e-05	0.0093	0.0155	0.0113	0.0124	0.0129	0.0035	0.0039	0.0036	0.0035	0.0049	0.0032	0.0031	0.0043	0.0041	0.0010	0.0166	0.0018	0.0061	0	0.0042	0	0.0049	0.0036	0.0048	.	.	.	0.216	0.26226	T	.	.	.	.	.	.	.	.	.	.	0.98661	0.24600	N	.	.	.	.	.	.	.	.	.	0.134	0.13055	-1.0302	0.20390	T	0.031	0.13286	T	7	0.0040552616	0.00079	T	.	.	.	.	.	.	.	0.136095386433	0.13204	0.0010305415930272075	0.00095	.	.	0.543417036533	0.44928	T	0.008543	0.07834	T	-0.216291	0.18501	T	-0.548463	0.17474	T	0.013754574758509	0.00258	T	0.370263	0.08727	T	0.063925505	0.13510	0.0942307	0.22294	0.063925505	0.13509	0.0942307	0.22294	-5.7	0.43694	T	.	.	0.213	0.44122	B	.	.	2.164793	0.27584	17.51	0.51490358097531141	0.04572	0.00860	0.03421	N	AEFI	0.042385	0.06571	N	-0.577418607764664	0.19632	1.028985	-0.848704842727349	0.13319	0.6902728	1.11164203910733E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-0.367000	0.07607	-3.333000	0.02868	0.201000	0.17923	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	1000	0.00083	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.051020	0.000000	0.000000	0.142857	0.000000	0.000000	0.083333	0.083333	0.1	66.7	19	chr15	20535254	.	G	A	66.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.65;DP=92;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=28.7;MQRankSum=-0.126;QD=13.34;ReadPosRankSum=-0.524;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:43:0|1:20535254_G_A:76,0,43:20535254	4	0	1	1
chr15	20845872	20845872	T	C	exonic	POTEB;POTEB2	.	nonsynonymous SNV	POTEB2:NM_001277303:exon9:c.A1259G:p.N420S,POTEB:NM_001277304:exon9:c.A1259G:p.N420S	.	436	962	122	2	0	126	0.0614634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1023	0.1962	0.1486	0.1165	0.0769	0.0872	0.0804	0.0657	0.0592295	9157	154602	rs79335648	8.749e-05	6.598e-05	5.516e-05	0.0001	0.0007	4.714e-05	3.515e-05	0.0001	4.787e-05	0	0.0007	0	0.0004	0	0	8.064e-05	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.305	0.14256	T	0.839	0.03621	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	2.32	0.16640	T	-0.63	0.18459	N	0.008	0.00068	.	.	.	.	.	.	.	0.0018360615	0.00025	T	.	.	.	.	.	.	.	.	.	0.006055757321101937	0.00574	1.56174073802	0.88049	0.741252064705	0.73158	T	0.003477	0.02879	T	-0.366787	0.03760	T	-0.76464	0.02949	T	.	.	.	0.39826	0.10085	T	0.023043897	0.01012	0.036473703	0.03101	0.023043897	0.01012	0.036473703	0.03101	-3.291	0.13621	T	.	.	0.079	0.07412	B	.	.	-0.426343	0.02115	0.200	0.31482124279507218	0.01776	0.00335	0.01744	N	AEFI	0.024797	0.01593	N	.	.	.	.	.	.	1.07113283285327E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.4	-2.79	0.05494	-0.085000	0.11215	-10.088000	0.00741	-0.694000	0.04098	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.2288:0.3611:0.0:0.4101	2.473	0.04291	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.094329	0.101266	0.100000	0.132479	0.000000	0.052632	0.083942	0.073171	0.3333	2439.96	33	chr15	20845872	.	T	C	2439.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.07;DP=1260;ExcessHet=3.1439;FS=0;MLEAC=4;MLEAF=0.333;MQ=37.37;MQRankSum=-0.44;QD=2.08;ReadPosRankSum=0.277;SOR=0.788	GT:AD:DP:GQ:PL	0/1:174,44:218:99:516,0,4142	2	0	4	0
chr15	21410951	21410951	C	T	exonic	POTEB3	.	nonsynonymous SNV	POTEB3:NM_207355:exon10:c.G1460A:p.G487E	.	1167	351	2	2	0	6	0.00847458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00149846368984	.	.	.	.	.	.	.	.	.	.	.	.	.	rs201599781	3.94e-05	0.0049	5.465e-05	2.42e-05	0.0010	2.949e-05	2.589e-05	0.0005	0.0004	0.0010	0	6.538e-05	0	5.229e-05	0	3.139e-05	5.017e-05	1.542e-05	0.0003	0.0093	0.0002	0.0003	0.0009	0.0002	0.0001	0.0005	0.0003	0.0009	0	0.0003	0	0.0004	0	0	0.0001	0	0.0003	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.08088	.	.	.	.	.	.	.	0.13723475	0.26107	T	0.001498	0.02318	T	.	.	.	.	0.21279746466	0.20884	0.012663733124182534	0.01225	.	.	0.758689165115	0.75735	T	0.018113	0.14658	T	-0.257661	0.13174	T	-0.607889	0.12158	T	.	.	.	0.689231	0.29860	T	0.04479156	0.07223	0.07305423	0.15832	0.04479156	0.07222	0.07305423	0.15832	-2.044	0.03351	T	.	.	0.102	0.18037	B	.	.	1.760732	0.22396	15.60	0.38208231936452719	0.02563	0.24951	0.22551	N	AEFI	0.060037	0.11384	N	.	.	.	.	.	.	1.21202139914897E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.74	0.751	0.17541	3.206000	0.50800	0.673000	0.20610	0.284000	0.18682	0.994000	0.38300	0.001000	0.17328	0.003000	0.05239	0.0:0.7705:0.0:0.2295	4.253	0.10152	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	146.64	.	chr15	21410951	.	C	T	146.64	.	AC=2;AF=0.2;AN=10;DP=119;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=39.27;QD=28.6;SOR=3.258	GT:AD:DP:GQ:PL	1/1:0,4:4:12:164,12,0	4	1	0	1
chr15	22081297	22081297	T	C	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.T673C:p.F225L	.	540	106	147	729	0	1605	0.883324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	.	.	.	0.9050	0.7710	0.9468	0.9535	0.9317	0.9220	0.9117	0.8549	0.780262	120630	154602	rs491208	0	5.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000844	0.41440	N	0.000000	1	0.08975	P	-2.445	0.00066	N	.	.	.	.	.	.	0.024	0.00445	-0.9717	0.36841	T	0.000	0.00011	T	9	7.2730036e-05	0.00009	T	.	.	.	.	.	0.54	0.65161	.	.	0.19599440268041618	0.19516	.	.	.	.	.	0.00272	0.02115	T	-0.672873	0.00053	T	-0.702807	0.05673	T	0.00771905005910873	0.00090	T	0.142386	0.01156	T	0.07985808	0.18268	0.08259106	0.18862	0.07985808	0.18267	0.08259106	0.18861	0.242	0.00274	T	.	.	0.245	0.47901	B	.	.	1.048175	0.14294	10.87	0.73235698812529659	0.10255	0.01725	0.05460	N	AEFGBCI	.	.	.	-1.86751014071891	0.00400	0.01720119	-1.75517952119794	0.00914	0.04088312	0.944484955208236	0.27617	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	0.487	0.16050	-0.893000	0.04234	-0.516000	0.08717	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4472:0.0:0.5528	6.210	0.19834	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.865792	0.833333	0.845109	0.862573	0.900000	0.887931	0.920732	0.867424	0.75	3065.37	1	chr15	22081297	.	T	C	3065.37	.	AC=6;AF=0.75;AN=8;BaseQRankSum=4.73;DP=636;ExcessHet=0.2119;FS=43.298;MLEAC=7;MLEAF=0.875;MQ=47.14;MQRankSum=-7.298;QD=7.44;ReadPosRankSum=-0.342;SOR=2.907	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1208,114,0	0	2	2	2
chr15	22866742	22866742	-	ATG	exonic	NIPA2	.	nonframeshift insertion	NIPA2:NM_001008894:exon5:c.921_922insATG:p.M308_Y309insM,NIPA2:NM_001008892:exon6:c.978_979insATG:p.M327_Y328insM,NIPA2:NM_001184888:exon6:c.921_922insATG:p.M308_Y309insM,NIPA2:NM_001008860:exon7:c.978_979insATG:p.M327_Y328insM,NIPA2:NM_030922:exon8:c.978_979insATG:p.M327_Y328insM,NIPA2:NM_001184889:exon10:c.978_979insATG:p.M327_Y328insM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs772376136	6.842e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	723.79	38	chr15	22866742	.	T	TATG	723.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.33;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.09;ReadPosRankSum=-0.068;SOR=0.718	GT:AD:DP:GQ:PL	0/1:21,19:40:99:734,0,818	5	0	1	0
chr15	23365010	23365010	A	G	exonic	GOLGA8H;GOLGA8S	.	nonsynonymous SNV	GOLGA8S:NM_001355465:exon18:c.A1115G:p.D372G	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000662240977894	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1176321652	2.582e-05	0.0001	2.085e-05	3.082e-05	0.0002	1.905e-05	1.663e-05	8.975e-05	7.122e-05	3.056e-05	6.729e-05	0	0	0	0	1.726e-05	1.679e-05	0.0002	2.09e-05	9.269e-05	1.357e-05	2.862e-05	0.0002	5.56e-06	2.54e-06	5.05e-06	1.89e-06	0	0	0	0	0	0	0	3.045e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.33	0.16492	T	3.56	0.00082	N	0.091	0.06990	.	.	.	.	.	.	.	0.032313883	0.01380	T	6.62E-4	0.00367	T	.	.	.	.	0.143124449307	0.13826	0.059838642585827904	0.05923	1.90002164035	0.92800	.	.	.	.	.	.	-0.548215	0.00299	T	-0.770203	0.02761	T	.	.	.	0.562644	0.19782	T	0.028636226	0.02232	0.04949176	0.07575	0.028636226	0.02232	0.04949176	0.07574	-2.927	0.09416	T	.	.	0.082	0.08705	B	.	.	-0.453414	0.02021	0.181	0.50470168568889551	0.04390	0.00064	0.00463	N	AEFI	0.013804	0.00197	N	.	.	.	.	.	.	1.37906141909221E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.678	-0.725	0.10610	-0.337000	0.07898	-0.724000	0.07692	-0.607000	0.04596	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2759:0.0:0.3898:0.3344	1.592	0.02496	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	495.83	46	chr15	23365010	.	A	G	495.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.1;DP=268;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=38.28;MQRankSum=-4.31;QD=5.77;ReadPosRankSum=1.1;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,17:86:99:0|1:23365010_A_G:506,0,2846:23365010	5	0	1	0
chr15	23365012	23365012	C	T	exonic	GOLGA8H;GOLGA8S	.	nonsynonymous SNV	GOLGA8S:NM_001355465:exon18:c.C1117T:p.P373S	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179412277746	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1463577717	2.719e-05	0.0001	2.083e-05	3.361e-05	0.0002	2.036e-05	1.788e-05	8.973e-05	7.121e-05	3.054e-05	6.729e-05	0	0	0	0	1.907e-05	1.678e-05	0.0002	2.778e-05	7.937e-05	2.707e-05	2.852e-05	0.0002	8.49e-06	5.38e-06	1.21e-05	6.35e-06	0	0	0	0	0	0	0	4.557e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.06	0.20523	T	0.37	0.03639	N	0.09	0.06854	.	.	.	.	.	.	.	0.056945115	0.06463	T	0.001794	0.03063	T	.	.	.	.	0.380052290102	0.37618	0.05029497142689372	0.04972	1.54876453167	0.87867	.	.	.	.	.	.	-0.55156	0.00285	T	-0.804352	0.01796	T	.	.	.	0.633437	0.24778	T	0.01556003	0.00145	0.044820786	0.05893	0.01556003	0.00145	0.044820786	0.05892	-3.329	0.14113	T	.	.	0.085	0.10352	B	.	.	-1.856590	0.00139	0.002	0.7386747109350027	0.10484	0.01384	0.04710	N	AEFI	0.026337	0.01958	N	.	.	.	.	.	.	1.70410768220176E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.678	0.678	0.17136	0.005000	0.13029	-5.780000	0.01599	-1.763000	0.00674	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:1.0:0.0:0.0	5.110	0.14136	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	495.83	46	chr15	23365012	.	C	T	495.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.143;DP=269;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=38.42;MQRankSum=-4.31;QD=5.77;ReadPosRankSum=1.21;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,17:86:99:0|1:23365010_A_G:506,0,2846:23365010	5	0	1	0
chr15	23365016	23365016	T	C	exonic	GOLGA8H;GOLGA8S	.	nonsynonymous SNV	GOLGA8S:NM_001355465:exon18:c.T1121C:p.L374P	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00290460754035	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1400890992	2.718e-05	0.0001	2.082e-05	3.359e-05	0.0002	2.035e-05	1.787e-05	8.974e-05	7.121e-05	3.054e-05	6.729e-05	0	0	0	0	1.906e-05	1.678e-05	0.0002	3.476e-05	7.28e-05	4.067e-05	2.854e-05	0.0002	1.316e-05	8.38e-06	2.019e-05	1.156e-05	0	0	0	0	0	0	0	6.081e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.21	0.18414	T	4.96	0.00024	N	0.085	0.06190	.	.	.	.	.	.	.	0.034254014	0.01627	T	0.002905	0.06133	T	.	.	.	.	0.0762999501168	0.06990	0.029303370463439102	0.02879	2.21200435668	0.95776	.	.	.	.	.	.	-0.463754	0.00931	T	-0.702204	0.05706	T	.	.	.	0.339066	0.07293	T	0.039942626	0.05608	0.057110004	0.10324	0.039942626	0.05608	0.057110004	0.10324	-2.912	0.09264	T	.	.	0.060	0.00949	B	.	.	-0.520936	0.01801	0.140	0.50986736061785176	0.04481	0.00025	0.00253	N	AEFI	0.015934	0.00328	N	.	.	.	.	.	.	9.89163602233636E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.678	-1.36	0.08610	-0.837000	0.04485	-0.164000	0.11293	-0.688000	0.04154	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2416:0.2975:0.2412:0.2196	0.299	0.00251	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	492.83	46	chr15	23365016	.	T	C	492.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.566;DP=270;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=38.74;MQRankSum=-4.345;QD=5.66;ReadPosRankSum=1.07;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,17:87:99:0|1:23365010_A_G:503,0,2888:23365010	5	0	1	0
chr15	23365019	23365019	T	A	exonic	GOLGA8H;GOLGA8S	.	nonsynonymous SNV	GOLGA8S:NM_001355465:exon18:c.T1124A:p.L375H	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000679095384675	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1444296458	2.857e-05	0.0001	2.498e-05	3.219e-05	0.0002	2.125e-05	1.913e-05	0.0001	9.546e-05	0	8.969e-05	0	0	0	0	1.815e-05	1.677e-05	0.0002	2.775e-05	6.615e-05	2.705e-05	2.848e-05	0.0002	8.48e-06	5.37e-06	1.209e-05	6.35e-06	0	0	0	0	0	0	0	4.553e-05	0	0.0002	0.31	0.14017	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.0	0.21473	T	4.11	0.00050	N	0.12	0.11054	.	.	.	.	.	.	.	0.048632294	0.04339	T	6.79E-4	0.00400	T	.	.	.	.	0.239305524855	0.23518	0.04682125552559315	0.04625	1.86795582778	0.92482	.	.	.	.	.	.	-0.438875	0.01313	T	-0.671888	0.07488	T	.	.	.	0.0412959	0.00289	T	0.03775245	0.04900	0.051814906	0.08414	0.03775245	0.04900	0.051814906	0.08414	-5.182	0.38758	T	.	.	0.074	0.04889	B	.	.	-1.099702	0.00641	0.017	0.6339925726820218	0.07214	0.00475	0.02270	N	AEFI	0.022321	0.01102	N	.	.	.	.	.	.	1.43711362299522E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.678	0.678	0.17136	-0.185000	0.09679	-0.900000	0.06995	-1.688000	0.00776	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6645:0.0:0.3355	3.159	0.06122	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	498.83	46	chr15	23365019	.	T	A	498.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.195;DP=268;ExcessHet=0;FS=1.016;MLEAC=1;MLEAF=0.083;MQ=38.99;MQRankSum=-4.439;QD=5.87;ReadPosRankSum=0.852;SOR=0.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,17:85:99:0|1:23365010_A_G:509,0,2804:23365010	5	0	1	0
chr15	25370988	25370988	C	T	exonic	UBE3A	.	nonsynonymous SNV	UBE3A:NM_001354546:exon3:c.G1009A:p.E337K,UBE3A:NM_001354548:exon4:c.G1126A:p.E376K,UBE3A:NM_001354549:exon4:c.G1126A:p.E376K,UBE3A:NM_130838:exon4:c.G1126A:p.E376K,UBE3A:NM_001354542:exon5:c.G1126A:p.E376K,UBE3A:NM_001354505:exon6:c.G1186A:p.E396K,UBE3A:NM_001354545:exon6:c.G1186A:p.E396K,UBE3A:NM_001374461:exon6:c.G1126A:p.E376K,UBE3A:NM_130839:exon6:c.G1186A:p.E396K,UBE3A:NM_000462:exon7:c.G1195A:p.E399K,UBE3A:NM_001354508:exon7:c.G1126A:p.E376K,UBE3A:NM_001354511:exon7:c.G1126A:p.E376K,UBE3A:NM_001354512:exon7:c.G1126A:p.E376K,UBE3A:NM_001354513:exon7:c.G1126A:p.E376K,UBE3A:NM_001354523:exon7:c.G1126A:p.E376K,UBE3A:NM_001354538:exon7:c.G1186A:p.E396K,UBE3A:NM_001354539:exon7:c.G1126A:p.E376K,UBE3A:NM_001354547:exon7:c.G1126A:p.E376K,UBE3A:NM_001354506:exon8:c.G1126A:p.E376K,UBE3A:NM_001354507:exon8:c.G1126A:p.E376K,UBE3A:NM_001354509:exon8:c.G1126A:p.E376K,UBE3A:NM_001354526:exon8:c.G1126A:p.E376K,UBE3A:NM_001354541:exon8:c.G1126A:p.E376K,UBE3A:NM_001354544:exon8:c.G1126A:p.E376K,UBE3A:NM_001354540:exon9:c.G1126A:p.E376K,UBE3A:NM_001354543:exon10:c.G1126A:p.E376K	Angelman syndrome, Isolated cases	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.0632156903374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.14546	T	0.798	0.04168	T	0.95	0.53885	P	0.697	0.54061	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	-0.84	0.74265	T	-0.79	0.21860	N	0.662	0.74826	-0.6074	0.64511	T	0.342	0.70794	T	10	0.42258328	0.56963	T	0.063216	0.68897	D	0.340	0.66202	0.449	0.50957	0.402881280848	0.39899	0.5371458093378796	0.53639	1.09038453896	0.77410	0.666752576828	0.62375	T	0.127811	0.45507	T	0.142979	0.68608	D	-0.0323968	0.68209	D	0.603581189142381	0.36543	D	0.978702	0.92791	D	0.24791744	0.47774	0.28203094	0.54188	0.24791744	0.47773	0.28203094	0.54187	-5.505	0.42965	T	.	.	0.343	0.56651	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.170511	0.62707	24.5	0.9956762370448623	0.72197	0.99019	0.90044	D	AEFGBI	0.877092	0.80151	D	0.171195768447697	0.49820	3.178202	0.332471228125121	0.57457	3.911528	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	7.905000	0.86479	7.717000	0.67122	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.570	0.95400	952	0.10565	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	46.84	58	chr15	25370988	.	C	T	46.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.612;DP=372;ExcessHet=0;FS=68.024;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.81;ReadPosRankSum=0.868;SOR=5.278	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,13:58:57:0|1:25370986_C_T:57,0,1260:25370986	5	0	1	0
chr15	27326875	27326875	A	G	exonic	GABRG3	.	nonsynonymous SNV	GABRG3:NM_001270873:exon4:c.A337G:p.M113V,GABRG3:NM_033223:exon4:c.A337G:p.M113V	.	403	1111	8	0	0	8	0.00358744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.0441808054022	.	0.000599042	6.624e-05	0	8.639e-05	0	0	2.997e-05	0	0.0003	7.12e-05	11	154602	rs76012018	4.721e-05	4.72e-05	2.723e-05	6.739e-05	0.0007	3.794e-05	3.476e-05	0.0003	0.0003	0	2.236e-05	0	0	0	0.0007	1.889e-05	6.625e-05	0.0005	2.626e-05	2.625e-05	0	5.373e-05	6.537e-05	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.405e-05	0	6.537e-05	0	0	0	0	2.94e-05	0	0	0.024	0.47745	D	0.345	0.44501	T	0.447	0.36006	B	0.285	0.40506	B	0.000000	0.84330	D	0.000000	0.999989	0.54805	D	1.69	0.43327	L	-1.09	0.77206	T	-1.48	0.36189	N	0.482	0.53006	-0.5442	0.67005	T	0.349	0.71313	T	10	0.15981406	0.30019	T	0.044181	0.61363	D	0.411	0.72252	.	.	0.883708047798	0.88257	0.5217847299223344	0.52101	.	.	0.801367282867	0.82171	T	0.113196	0.43004	T	-0.000277945	0.51616	T	0.0779803	0.75443	D	0.100215079200617	0.12381	T	0.857914	0.54939	D	0.509527	0.67652	0.4381643	0.67211	0.509527	0.67653	0.4381643	0.67211	-7.554	0.70728	D	.	.	0.134	0.29615	B	.;.;.	.;.;.	3.985520	0.58615	24.0	0.9862173629024219	0.43785	0.97534	0.75377	D	AEFBI	0.878891	0.80444	D	0.159126559635231	0.49243	3.127039	0.313913423628776	0.56357	3.79888	0.999930501818005	0.46732	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.75	5.75	0.90390	7.207000	0.77409	9.152000	0.78953	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	15.306	0.73701	986	0.02773	Neurotransmitter-gated ion-channel ligand-binding domain;.;Neurotransmitter-gated ion-channel ligand-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1536.83	33	chr15	27326875	.	A	G	1536.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.7;DP=273;ExcessHet=0;FS=1.695;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.01;ReadPosRankSum=-0.011;SOR=0.975	GT:AD:DP:GQ:PL	0/1:41,55:96:99:1547,0,906	5	0	1	0
chr15	28357951	28357951	G	C	exonic;splicing	LOC645202;LOC100132202	NM_001365373:exon1:c.78+1C>G	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	.	.	.	0	.	.	.	.	.	.	.	3.84e-05	1	26028	rs761560411	0.0100	0.0022	0.0113	0.0089	0.0421	0.0093	0.0091	0.0375	0.0357	0.0421	0.0084	0.0004	0.0065	0.0189	0.0088	0.0047	0.0132	0.0024	0.0317	0.0086	0.0346	0.0285	0.0363	0.0269	0.0250	0.0305	0.0284	0.0363	.	0.0067	0	0	0.0282	0	0.0044	0.0357	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	48.88	.	chr15	28357951	.	G	C	48.88	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-0.967;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=27;MQRankSum=0;QD=16.29;ReadPosRankSum=0.967;SOR=1.179	GT:AD:DP:GQ:PL	0/1:1,2:3:23:55,0,23	3	0	1	2
chr15	29124687	29124687	C	G	exonic	FAM189A1	.	nonsynonymous SNV	FAM189A1:NM_015307:exon10:c.G1303C:p.A435P	.	426	1057	37	2	0	41	0.0190255	1.0000	0.972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	.	0.00239617	0.0068	0.0022	0.0071	0	0	0.0123	0.0266	0.0029	0.0021604	334	154602	rs61736885	0.0090	0.0086	0.0091	0.0089	0.0400	0.0089	0.0088	0.0358	0.0341	0.0024	0.0050	0.0168	8.395e-05	0.0009	0.0400	0.0101	0.0092	0.0025	0.0066	0.0066	0.0068	0.0064	0.0096	0.0063	0.0062	0.0089	0.0087	0.0024	0.0011	0.0096	0.0176	0	0.0007	0.0374	0.0095	0.0085	0.0039	0.293	0.14843	T	0.418	0.14200	T	0.929	0.51690	P	0.519	0.48163	P	0.406465	0.04566	N	1.383280	0.993407	0.23718	N	0.895	0.22405	L	4.1	0.02944	T	-0.43	0.14390	N	0.112	0.09914	-0.9404	0.42552	T	0.008	0.02926	T	9	0.005343735	0.00117	T	.	.	.	0.070	0.20419	.	.	0.112648838833	0.10856	0.12152855287662725	0.12079	.	.	0.328835964203	0.14758	T	0.00334	0.02748	T	-0.606268	0.00133	T	-0.634243	0.10094	T	0.00694505413504118	0.00079	T	0.29847	0.05558	T	0.1109204	0.26215	0.1353888	0.32417	0.1109204	0.26215	0.1353888	0.32416	-3.344	0.14311	T	.	.	0.070	0.03515	B	.	.	2.485933	0.32067	18.93	0.98772934176810789	0.46002	0.52931	0.29249	D	AEFDBCIJ	0.438409	0.49781	N	-0.269605845737956	0.30328	1.690033	-0.377055002329031	0.25682	1.413872	0.999585297186929	0.40607	0.700653	0.57754	0	0.588015	0.36545	0	0.717052	0.78885	0	0.613276	0.41899	0	.	.	4.56	2.65	0.30588	0.667000	0.24794	0.835000	0.21986	0.537000	0.25018	0.437000	0.26463	0.720000	0.26347	0.032000	0.13371	0.1796:0.7254:0.0:0.095	6.469	0.21197	.	.	.	.	.	.	.	.	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	0.026829	0.015957	0.046154	0.022523	0.083333	0.000000	0.022989	0.013158	0.08333	596.83	39	chr15	29124687	.	C	G	596.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.241;DP=232;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=-0.019;SOR=0.665	GT:AD:DP:GQ:PL	0/1:23,28:51:99:607,0,581	5	0	1	0
chr15	30089817	30089817	G	A	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon12:c.G992A:p.R331H	.	466	1049	7	0	0	7	0.00332542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.000900771032752	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1488768645	0.0001	0.0006	9.951e-05	0.0002	0.0010	0.0001	0.0001	0.0008	0.0008	0.0002	0.0002	7.818e-05	2.532e-05	0.0004	0.0002	6.575e-05	0.0002	0.0010	0.0005	0.0029	0.0004	0.0005	0.0009	0.0004	0.0004	0.0005	0.0004	0.0008	0	0.0003	0	0.0002	0.0005	0	0.0004	0.0012	0.0009	0.196	0.20683	T	0.607	0.07766	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	1.96	0.22270	T	-0.41	0.14000	N	0.036	0.01068	-0.9994	0.30087	T	0.035	0.15117	T	6	0.079330474	0.12748	T	9.01E-4	0.00844	T	.	.	.	.	0.0611884634855	0.05136	0.08154418905999827	0.08089	1.58871443814	0.88490	.	.	.	0.001544	0.00986	T	-0.310092	0.07740	T	-0.613364	0.11713	T	0.0723647512045235	0.08979	T	.	.	.	0.018165141	0.00338	0.026209326	0.00698	0.018165141	0.00337	0.026209326	0.00698	-5.732	0.43977	T	.	.	0.065	0.01960	B	.	.	1.046405	0.14271	10.85	0.52266347466046803	0.04716	0.06355	0.12354	N	AEFI	0.059543	0.11253	N	-0.810811843792159	0.13033	0.6392938	-0.978440891905038	0.10270	0.5161716	1.86297986819133E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.48	-0.881	0.10070	3.050000	0.49568	-0.274000	0.10324	-0.727000	0.03751	1.000000	0.71638	0.000000	0.08366	0.000000	0.00833	0.3332:0.2282:0.4386:0.0	3.086	0.05900	483	0.77230	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	104.83	33	chr15	30089817	.	G	A	104.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.643;DP=201;ExcessHet=0;FS=9.89;MLEAC=1;MLEAF=0.083;MQ=30.62;MQRankSum=-1.133;QD=7.49;ReadPosRankSum=-1.017;SOR=2.217	GT:AD:DP:GQ:PL	0/1:8,6:14:99:115,0,197	5	0	1	0
chr15	30136951	30136951	A	C	exonic	GOLGA8T	.	nonsynonymous SNV	GOLGA8T:NM_001355469:exon2:c.A134C:p.K45T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00159893974984	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1490309550	8.616e-05	6.462e-05	6.765e-05	0.0001	0.0004	6.88e-05	6.355e-05	0.0001	9.126e-05	0	0.0002	0.0011	3.086e-05	0	0.0004	5.096e-05	0.0001	0.0002	4.211e-05	6.622e-05	2.721e-05	5.797e-05	7.102e-05	1.812e-05	1.193e-05	1.212e-05	6.36e-06	0	0	7.102e-05	0.0006	0	0	0	4.567e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.43	0.05440	T	2.72	0.00186	N	0.06	0.03175	.	.	.	.	.	.	.	0.025850773	0.00767	T	0.001599	0.02574	T	.	.	.	.	0.043077524339	0.03247	0.11779065345018258	0.11706	2.01726381762	0.93962	.	.	.	.	.	.	-0.414508	0.01856	T	-0.833189	0.01207	T	.	.	.	.	.	.	0.026220737	0.01653	0.03355243	0.02268	0.026220737	0.01653	0.03355243	0.02268	-2.18	0.03944	T	.	.	0.033	0.00002	B	.	.	-0.474651	0.01950	0.167	0.4192044662201701	0.03056	0.00060	0.00440	N	AEFI	0.011009	0.00089	N	.	.	.	.	.	.	1.16629668865413E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.48	0.403	0.15569	-0.308000	0.08196	-1.113000	0.06292	-1.422000	0.01124	0.057000	0.21666	0.000000	0.08366	0.004000	0.06068	0.2739:0.4206:0.3056:0.0	3.425	0.06976	787	0.46738	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	198.83	38	chr15	30136951	.	A	C	198.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.603;DP=224;ExcessHet=0;FS=4.739;MLEAC=1;MLEAF=0.083;MQ=30.47;MQRankSum=-2.698;QD=3.43;ReadPosRankSum=-0.121;SOR=0.487	GT:AD:DP:GQ:PL	0/1:45,13:58:99:209,0,1253	5	0	1	0
chr15	32394147	32394147	T	C	exonic	GOLGA8K;GOLGA8T	.	nonsynonymous SNV	GOLGA8K:NM_001282493:exon15:c.A1363G:p.M455V	.	503	995	21	3	0	27	0.0133862	0.0069	0.044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	.	0.00698882	0.0164	0.0077	0.0191	0	0.0140	0.0217	0.0162	0.0136	0.0013447	35	26028	rs201364836	0.0032	0.0071	0.0031	0.0034	0.0059	0.0031	0.0031	0.0050	0.0047	0.0059	0.0020	0.0010	7.269e-05	0.0034	0.0041	0.0033	0.0028	0.0045	0.0029	0.0046	0.0030	0.0029	0.0050	0.0026	0.0025	0.0041	0.0038	0.0050	0	0.0011	0.0018	0	0.0021	0	0.0028	0.0020	0.0031	.	.	.	0.184	0.29056	T	.	.	.	.	.	.	.	.	.	.	0.999973	0.18612	N	.	.	.	.	.	.	.	.	.	0.317	0.35727	-1.0173	0.24592	T	0.048	0.20553	T	5	0.007897466	0.00179	T	.	.	.	0.033	0.08068	.	.	0.119812018005	0.11559	0.39501364062276695	0.39416	1.93239836197	0.93153	.	.	.	.	.	.	-0.54465	0.00314	T	-0.547595	0.17557	T	0.0171244791083947	0.00458	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11172	B	.	.	1.013339	0.13924	10.48	0.72283640021614892	0.09919	0.58944	0.30779	D	AEFI	0.193844	0.32095	N	0.0343045522413628	0.43421	2.635398	-0.349025092461371	0.26539	1.46656	3.94332910653515E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	1.66	-3.32	0.04663	1.336000	0.33455	-0.262000	0.10418	0.215000	0.18024	1.000000	0.71638	0.340000	0.24418	0.126000	0.19410	0.0:0.2654:0.3053:0.4292	4.048	0.09262	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	46.95	3	chr15	32394147	.	T	C	46.95	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.02;DP=83;ExcessHet=0;FS=2.086;MLEAC=1;MLEAF=0.083;MQ=44.76;MQRankSum=-1.681;QD=2.35;ReadPosRankSum=-2.129;SOR=1.27	GT:AD:DP:GQ:PL	0/1:16,4:20:57:57,0,426	5	0	1	0
chr15	32394208	32394208	C	G	exonic	GOLGA8K;GOLGA8T	.	nonsynonymous SNV	GOLGA8K:NM_001282493:exon15:c.G1302C:p.E434D	.	436	1057	28	1	0	30	0.0139925	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	.	0.00958466	0.0171	0.0063	0.0093	0.0006	0.0208	0.0222	0.0161	0.0152	0.0116881	1807	154602	rs186020429	0.0012	0.0042	0.0011	0.0013	0.0019	0.0012	0.0011	0.0016	0.0015	0.0016	0.0007	0.0007	0.0001	0.0027	0.0014	0.0011	0.0014	0.0019	0.0019	0.0036	0.0019	0.0020	0.0027	0.0017	0.0017	0.0023	0.0021	0.0027	0	0.0004	0.0010	0.0003	0.0018	0	0.0020	0.0017	0.0022	.	.	.	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.028	0.00618	-1.0259	0.21788	T	0.034	0.14464	T	5	0.004268825	0.00085	T	.	.	.	0.013	0.01715	.	.	.	.	0.08551605836197455	0.08485	0.019005573398	0.01855	.	.	.	.	.	.	-0.641994	0.00081	T	-0.68133	0.06902	T	0.00542060920511947	0.00059	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.24123	B	.	.	1.554518	0.19917	14.50	0.85348933866344978	0.15837	0.02889	0.07675	N	AEFI	0.085265	0.17283	N	-0.752977063059062	0.14552	0.7258756	-0.954551780017152	0.10818	0.5473082	1.15102790662991E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	1.66	0.664	0.17060	0.783000	0.26463	0.228000	0.16155	0.176000	0.17782	0.000000	0.06391	0.000000	0.08366	0.050000	0.15192	0.3154:0.4628:0.0:0.2218	1.964	0.03186	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	146.84	7	chr15	32394208	.	C	G	146.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.379;DP=149;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=46.72;MQRankSum=-3.136;QD=5.44;ReadPosRankSum=0.263;SOR=0.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,6:27:99:0|1:32394191_T_C:157,0,825:32394191	5	0	1	0
chr15	32968972	32968972	G	A	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon4:c.C2060T:p.P687L,FMN1:NM_001277313:exon8:c.C2729T:p.P910L	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.141578258586	8.3e-05	.	0.0001	0	0	0	0	0.0002	0	0	2.59e-05	4	154602	rs202010312	2.35e-05	2.995e-05	2.27e-05	2.426e-05	1.749e-05	1.502e-05	1.211e-05	7.45e-06	5.4e-06	0	0	0.0005	0	0	0	1.584e-05	2.632e-05	1.749e-05	1.982e-05	1.971e-05	1.29e-05	2.708e-05	0.0001	5.27e-06	2.46e-06	2.275e-05	9.13e-06	0	0	0.0001	0.0003	0	0	0	0	0	0	0.055	0.38407	T	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000005	0.62929	D	0.000000	.	.	.	2.47	0.71715	M	0.35	0.58897	T	-3.77	0.74427	D	0.448	0.49511	-0.6954	0.60656	T	0.217	0.57863	T	9	0.1801469	0.33184	T	0.141578	0.82399	D	0.231	0.53208	.	.	0.679926417079	0.67720	0.28556736648217795	0.28469	0.0224054033898	0.02255	0.717831254005	0.69731	T	0.489555	0.81472	T	-0.0569868	0.43376	T	-0.319634	0.42616	T	0.567609698122495	0.35143	D	.	.	.	0.15420048	0.34914	0.19781378	0.43582	0.15420048	0.34914	0.19781378	0.43581	-5.863	0.48722	T	.	.	0.095	0.21049	B	.;.;.;.	.;.;.;.	2.250397	0.28748	17.90	0.9872544244867798	0.45274	0.98230	0.80748	D	AEFDI	0.617456	0.60363	D	0.139209728198338	0.48301	3.044143	0.017069787868897	0.40509	2.418583	0.999997851842408	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	3.13	3.13	0.35090	5.421000	0.66185	2.945000	0.35685	0.499000	0.22661	1.000000	0.71638	0.999000	0.35428	0.017000	0.10941	0.0:0.0:1.0:0.0	14.360	0.66327	871	0.31377	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	561.83	41	chr15	32968972	.	G	A	561.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.09;DP=243;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=-0.107;SOR=0.643	GT:AD:DP:GQ:PL	0/1:38,22:60:99:572,0,1013	5	0	1	0
chr15	33066576	33066576	A	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.T1309C:p.S437P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0439174776103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.269e-06	0.0003	8.328e-06	4.195e-06	3.048e-05	2.95e-06	2.14e-06	3.16e-06	2.28e-06	3.048e-05	0	0	0	0	0	7.335e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.149	0.63918	T	0.999	0.90584	D	0.961	0.73157	D	0.013889	0.28700	N	0.367334	.	.	.	.	.	.	0.86	0.52416	T	-1.05	0.30140	N	0.667	0.67564	-0.3122	0.74643	T	0.279	0.65058	T	8	0.56316704	0.64902	D	0.043917	0.61227	D	0.118	0.32913	0.237	0.16760	0.692833615445	0.69019	.	.	0.0243119155432	0.02469	.	.	.	.	.	.	0.065645	0.60314	T	-0.143482	0.59815	T	0.97686767578125	0.71575	D	.	.	.	.	.	.	.	.	.	.	.	-11.775	0.83737	D	.	.	0.768	0.82694	P	.;.	.;.	1.889637	0.24000	16.23	0.99337903151617613	0.60051	0.70445	0.34593	D	AEFBCI	0.339556	0.43666	N	0.607978743589503	0.73679	6.005621	0.621611519535191	0.76513	6.504682	0.999997974355125	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	2.674000	0.46532	7.052000	0.57375	0.756000	0.94297	0.994000	0.38300	1.000000	0.68203	0.859000	0.40722	0.8664:0.0:0.0:0.1336	11.519	0.49792	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1176.82	82	chr15	33066576	.	A	G	1176.82	.	AC=3;AF=0.5;AN=6;BaseQRankSum=0.882;DP=456;ExcessHet=1.383;FS=211.078;MLEAC=4;MLEAF=0.667;MQ=60;MQRankSum=0;QD=5.03;ReadPosRankSum=-0.619;SOR=7.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,8:55:99:0|1:33066576_A_G:169,0,1917:33066576	0	0	3	3
chr15	33066577	33066577	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1308C:p.E436D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.0297600126912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.862e-07	0.0001	0	1.379e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.31834	T	0.298	0.32355	T	0.859	0.61523	P	0.569	0.58136	P	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.34	0.59717	T	-1.06	0.27669	N	0.523	0.55280	-0.6555	0.62473	T	0.195	0.54913	T	8	0.3596483	0.52628	T	0.02976	0.52206	D	0.121	0.33580	0.179	0.08626	0.723881056707	0.72144	.	.	0.0215900956345	0.02143	.	.	.	.	.	.	-0.156676	0.27274	T	-0.46283	0.26291	T	0.960661649703979	0.65867	D	.	.	.	.	.	.	.	.	.	.	.	-8.241	0.62700	D	.	.	0.231	0.54353	B	.;.	.;.	0.926501	0.13016	9.521	0.9948329941711106	0.67014	0.72494	0.35481	D	AEFBCI	0.313711	0.41879	N	0.240855582260182	0.53189	3.48888	0.245955025105221	0.52420	3.416909	0.999871332870031	0.44625	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	3.06	0.34374	0.207000	0.17194	0.009000	0.13411	0.599000	0.40250	0.983000	0.35670	0.800000	0.26941	0.903000	0.43903	0.1331:0.5968:0.0:0.2702	5.341	0.15286	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1149.59	82	chr15	33066577	.	C	G	1149.59	.	AC=2;AF=0.333;AN=6;BaseQRankSum=-0.732;DP=457;ExcessHet=1.383;FS=213.105;MLEAC=3;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.87;ReadPosRankSum=-0.572;SOR=7.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,8:57:99:0|1:33066576_A_G:163,0,1984:33066576	1	0	2	3
chr15	33066579	33066579	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1306C:p.E436Q	.	.	.	.	.	.	.	.	.	.	.	3676472	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.220	0.0465556673304	.	.	2.721e-05	0	0	0	0	4.859e-05	0	0	1.94e-05	3	154602	rs955154800	2.466e-05	2.805e-05	3.135e-05	1.79e-05	3.15e-05	1.806e-05	1.603e-05	2.287e-05	2.024e-05	0	0	0	0	1.874e-05	0	3.15e-05	0	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.003	0.68238	D	0.286	0.60972	T	1.0	0.90584	D	0.989	0.81110	D	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.2	0.61923	T	-1.07	0.39314	N	0.607	0.62442	-0.3966	0.72134	T	0.409	0.75810	T	8	0.5905696	0.66356	D	0.046556	0.62513	D	0.220	0.51569	0.204	0.11936	0.824378962961	0.82271	.	.	0.0221738766814	0.02225	.	.	.	.	.	.	-0.0740485	0.40679	T	-0.236485	0.51141	T	0.808419227600098	0.46935	D	.	.	.	.	.	.	.	.	.	.	.	-8.327	0.63277	D	.	.	0.419	0.64113	A	.;.	.;.	2.541376	0.32879	19.17	0.99614688724551159	0.75052	0.94574	0.61609	D	AEFBCI	0.820935	0.74161	D	0.762264303690397	0.83701	8.086839	0.787779339582059	0.88930	9.771612	0.99999999999998	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	6.672000	0.74315	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:1.0:0.0:0.0	20.422	0.99051	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	335.34	82	chr15	33066579	.	C	G	335.34	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-3.962;DP=493;ExcessHet=1.383;FS=169.888;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.41;ReadPosRankSum=-0.494;SOR=7.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,8:58:99:0|1:33066576_A_G:160,0,1991:33066576	4	0	1	1
chr15	33066580	33066580	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1305C:p.K435N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.097882166908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	3.42e-06	0	2.755e-06	2.52e-05	2.3e-07	9e-08	.	.	0	0	0	2.52e-05	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.154	0.70582	T	1.0	0.90584	D	0.999	0.97372	D	0.000001	0.62929	D	0.096983	.	.	.	.	.	.	-0.38	0.72458	T	-2.13	0.59389	N	0.608	0.62526	0.078	0.83767	D	0.453	0.78650	T	8	0.56676614	0.65094	D	0.097882	0.76848	D	0.261	0.57352	0.305	0.27485	0.831138789675	0.82953	.	.	0.0235372491196	0.02386	.	.	.	.	.	.	-0.0593099	0.43016	T	-0.322971	0.42248	T	0.990393579006195	0.80614	D	.	.	.	.	.	.	.	.	.	.	.	-10.821	0.78667	D	.	.	0.891	0.85423	P	.;.	.;.	1.014109	0.13930	10.49	0.99542673395090209	0.70586	0.65955	0.32912	D	AEFBCI	0.401493	0.47596	N	0.357394877581215	0.59132	4.09007	0.32151679407882	0.56807	3.84457	0.999972656303353	0.50053	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	4.1	0.47196	-0.266000	0.08660	-0.170000	0.11235	0.599000	0.40250	0.526000	0.27158	0.290000	0.24159	0.957000	0.51019	0.0:0.7827:0.0:0.2173	10.418	0.43521	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	335.59	84	chr15	33066580	.	C	G	335.59	.	AC=2;AF=0.333;AN=6;BaseQRankSum=-3.206;DP=487;ExcessHet=1.383;FS=166.227;MLEAC=3;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=-0.414;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,8:59:99:0|1:33066576_A_G:158,0,1998:33066576	1	0	2	3
chr15	33066583	33066583	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1302C:p.E434D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0174432321193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.18061	T	0.252	0.29056	T	0.724	0.62824	P	0.292	0.58300	B	0.000000	0.84330	D	0.049723	.	.	.	.	.	.	1.03	0.48142	T	-0.87	0.23590	N	0.263	0.29774	-0.6821	0.61275	T	0.170	0.51052	T	8	0.18176183	0.33423	T	0.017443	0.39139	T	0.205	0.49236	0.196	0.10839	0.633120732306	0.63011	.	.	0.0215900956345	0.02143	.	.	.	.	.	.	-0.101551	0.36169	T	-0.383648	0.35295	T	0.987011551856995	0.77596	D	.	.	.	.	.	.	.	.	.	.	.	-7.933	0.60613	D	.	.	0.457	0.69267	A	.;.	.;.	1.631232	0.20829	14.93	0.99234608538238822	0.56342	0.62108	0.31682	D	AEFBCI	0.207444	0.33361	N	0.193011064254835	0.50863	3.272384	0.226642513300989	0.51332	3.316546	0.999944989826091	0.47345	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	4.1	0.47196	0.147000	0.16021	1.800000	0.28874	0.599000	0.40250	0.988000	0.36536	1.000000	0.68203	0.964000	0.52637	0.0:0.7464:0.0:0.2536	10.665	0.44923	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	320.34	88	chr15	33066583	.	C	G	320.34	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-2.153;DP=478;ExcessHet=1.383;FS=173.452;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=1.45;ReadPosRankSum=0.395;SOR=5.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:50,8:58:99:.:.:151,0,1063:.	3	0	2	1
chr15	34103466	34103466	G	A	exonic	PGBD4	.	nonsynonymous SNV	PGBD4:NM_152595:exon1:c.G935A:p.R312H	.	422	1087	12	1	0	14	0.00639854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	0.0021	0.00359425	0.0033	0.0008	0.0006	0.0001	0.0006	0.0040	0.0011	0.0071	0.0032082	496	154602	rs141918057	0.0029	0.0029	0.0028	0.0030	0.0068	0.0028	0.0028	0.0063	0.0062	0.0003	0.0005	0.0002	0	0.0011	0.0033	0.0031	0.0023	0.0068	0.0022	0.0022	0.0023	0.0020	0.0089	0.0020	0.0019	0.0068	0.0061	0.0007	0	0.0010	0	0.0006	0.0003	0	0.0034	0.0009	0.0089	0.014	0.53172	D	0.042	0.50226	D	0.999	0.77913	D	0.953	0.69275	D	0.377073	0.04397	U	2.921910	0.999989	0.18198	N	0.805	0.20218	L	2.24	0.17923	T	-1.65	0.39503	N	0.11	0.09631	-1.0259	0.21788	T	0.092	0.35174	T	9	0.007869095	0.00179	T	.	.	.	0.090	0.26093	.	.	0.21737058555	0.21362	0.2922857446685509	0.29141	0.717844293268	0.62061	0.430106282234	0.29223	T	0.049587	0.28350	T	-0.558818	0.00258	T	-0.572729	0.15200	T	0.548341333866119	0.34415	D	0.559344	0.19537	T	0.12660946	0.29651	0.09559757	0.22681	0.12660946	0.29651	0.09559757	0.22680	-4.125	0.25658	T	.	.	0.161	0.35498	B	.	.	2.506051	0.32358	19.02	0.99833569448293158	0.91456	0.06318	0.12315	N	AEFGBCI	0.045188	0.07363	N	-0.174768268800229	0.34188	1.948363	-0.426505887473238	0.24223	1.325252	0.999877009735697	0.44625	0.660377	0.49826	0	0.694456	0.67091	0	0.658983	0.55881	0	0.622129	0.49086	0	.	.	0.481	0.481	0.16020	1.078000	0.30365	-1.189000	0.06074	0.353000	0.19991	0.032000	0.20554	0.000000	0.08366	0.620000	0.31896	.	.	.	771	0.49057	PiggyBac transposable element-derived protein	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	1463.83	37	chr15	34103466	.	G	A	1463.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.396;DP=283;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=0.044;SOR=0.693	GT:AD:DP:GQ:PL	0/1:53,53:106:99:1474,0,1363	5	0	1	0
chr15	38559862	38559862	G	A	exonic	RASGRP1	.	nonsynonymous SNV	RASGRP1:NM_001128602:exon2:c.C179T:p.A60V,RASGRP1:NM_001306086:exon2:c.C179T:p.A60V,RASGRP1:NM_005739:exon2:c.C179T:p.A60V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321	0.0229745851635	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1490332709	4.105e-06	4.104e-06	5.445e-06	2.751e-06	4.497e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.91255	D	0.032	0.63109	D	0.95	0.56768	P	0.817	0.59497	P	0.000005	0.62929	D	0.105018	0.999993	0.58761	D	2.565	0.75005	M	0.51	0.55439	T	-2.44	0.74051	N	0.735	0.91276	-0.5105	0.68268	T	0.281	0.65289	T	10	0.8972701	0.89082	D	0.022975	0.45913	T	0.321	0.64318	0.856	0.95547	0.659814973701	0.65696	0.7184347440114798	0.71786	0.884896445063	0.69936	0.515768051147	0.41031	T	0.361917	0.72791	T	0.0696763	0.60810	D	-0.054826	0.66692	D	0.969162940979004	0.68494	D	0.893211	0.68393	D	0.6256803	0.74067	0.41689643	0.65760	0.6256803	0.74068	0.41689643	0.65760	-7.138	0.55035	T	0.5885904200411043	0.65538	0.333	0.59432	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.906419	0.80684	27.4	0.99910759647331548	0.98022	0.91633	0.53936	D	AEFDGBCIJ	0.873978	0.79662	D	0.726797771960398	0.81388	7.510756	0.726282446345789	0.84375	8.274212	0.999999999992683	0.74766	0.493124	0.18060	0	0.587265	0.34161	0	0.608075	0.38828	0	0.530356	0.10902	0	.	.	4.97	4.97	0.65419	6.955000	0.75805	11.913000	0.99630	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.791	0.91941	578	0.69858	Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal;Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal;Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal;Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal;.;.;.;Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal;Ras-like guanine nucleotide exchange factor, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	987.83	33	chr15	38559862	.	G	A	987.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.809;DP=256;ExcessHet=0;FS=2.951;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=0.488;SOR=0.439	GT:AD:DP:GQ:PL	0/1:43,38:81:99:998,0,1276	5	0	1	0
chr15	39588622	39588622	C	T	exonic	THBS1	.	nonsynonymous SNV	THBS1:NM_003246:exon10:c.C1568T:p.T523I	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00971750780854	.	.	1.703e-05	9.707e-05	0	0	0	1.522e-05	0	0	1.29e-05	2	154602	rs748012239	1.37e-06	1.368e-06	1.363e-06	1.378e-06	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	1.314e-05	1.313e-05	2.569e-05	0	4.827e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.827e-05	0	0	0	0	0	0	0	0	0	0.093	0.31532	T	0.197	0.27855	T	0.026	0.19406	B	0.012	0.16012	B	0.557327	0.11372	N	0.716432	0.998808	0.21894	N	1.105	0.28596	L	0.17	0.60485	T	-0.84	0.22944	N	0.182	0.19728	-1.0137	0.25752	T	0.101	0.37543	T	10	0.07813692	0.12418	T	0.009718	0.25381	T	0.044	0.11924	0.462	0.53079	0.390913227754	0.38705	0.42519809564220296	0.42436	0.503164557005	0.48655	0.247804701328	0.03539	T	0.126807	0.45344	T	-0.261647	0.12708	T	-0.431468	0.29769	T	0.039424900795543	0.03586	T	0.715028	0.32735	T	0.13737878	0.31811	0.093699224	0.22143	0.13737878	0.31811	0.093699224	0.22143	-6.141	0.47444	T	.	.	0.068	0.02670	B	.	.	1.929242	0.24505	16.42	0.99234264705903741	0.56310	0.11374	0.16591	N	ALL	0.142685	0.26519	N	-0.617610405441943	0.18415	0.955887	-0.527967546019152	0.21395	1.157206	0.999999799768602	0.74766	0.675202	0.55065	0	0.563428	0.19063	0	0.702456	0.68683	0	0.756233	0.99697	0	.	.	5.87	1.48	0.21900	0.488000	0.22080	1.840000	0.29181	0.599000	0.40250	0.001000	0.13787	0.003000	0.18671	0.991000	0.66497	0.2784:0.495:0.0:0.2267	4.931	0.13269	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	848.83	38	chr15	39588622	.	C	T	848.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.478;DP=253;ExcessHet=0;FS=3.248;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=-0.402;SOR=0.705	GT:AD:DP:GQ:PL	0/1:34,35:69:99:859,0,821	5	0	1	0
chr15	40813744	40813744	G	A	exonic	ZFYVE19	.	nonsynonymous SNV	ZFYVE19:NM_001258420:exon8:c.G938A:p.S313N,ZFYVE19:NM_001077268:exon9:c.G1142A:p.S381N,ZFYVE19:NM_001258421:exon9:c.G617A:p.S206N,ZFYVE19:NM_032850:exon10:c.G1112A:p.S371N	.	411	1110	1	0	0	1	0.000450248	.	.	.	3202653	ZFYVE19-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.153	0.0158950340003	0.0027	0.00139776	0.0025	0.0006	0.0007	0.0002	0.0040	0.0036	0	0.0013	0.0025226	390	154602	rs34516375	0.0033	0.0033	0.0033	0.0033	0.0038	0.0032	0.0032	0.0037	0.0036	0.0004	0.0010	0.0032	7.557e-05	0.0039	0.0014	0.0038	0.0025	0.0014	0.0027	0.0027	0.0027	0.0027	0.0043	0.0025	0.0024	0.0039	0.0037	0.0006	0	0.0020	0.0035	0	0.0038	0	0.0043	0.0014	0.0027	0.116	0.39820	T	0.068	0.92824	T	0.753	0.90584	P	0.352	0.88582	B	0.000000	0.84330	D	0.078430	0.999784	0.58761	D	3.08	0.87267	M	1.33	0.35031	T	-1.55	0.40850	N	0.627	0.65501	-0.8550	0.51620	T	0.170	0.51101	T	10	0.008516759	0.00193	T	0.015895	0.36884	T	0.153	0.40148	.	.	0.53832913131	0.53483	0.6268477801904936	0.62617	0.604939255861	0.55410	0.599707186222	0.52862	T	0.03809	0.24714	T	-0.387541	0.02790	T	-0.328361	0.41653	T	0.0345144880575221	0.02725	T	0.934407	0.76145	D	0.35247758	0.57259	0.26174188	0.51957	0.35247758	0.57259	0.26174188	0.51956	-7.831	0.60968	D	.	.	0.488	0.73392	A	.;.;.;.;.;.	.;.;.;.;.;.	4.755279	0.76829	26.6	0.99762796536691933	0.85172	0.99133	0.91711	D	AEFDGBI	0.937645	0.93571	D	0.687634075813981	0.78821	6.949628	0.705258389371661	0.82777	7.852077	0.999999999999998	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	9.324000	0.95607	9.991000	0.82984	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.815	0.88540	229	0.91079	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	748.83	35	chr15	40813744	.	G	A	748.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.59;DP=240;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=0.601;SOR=0.674	GT:AD:DP:GQ:PL	0/1:33,28:61:99:759,0,774	5	0	1	0
chr15	42417393	42417393	G	A	exonic	ZNF106	.	nonsynonymous SNV	ZNF106:NM_001381998:exon20:c.C3079T:p.L1027F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.26e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs766932726	6.857e-07	1.368e-06	0	1.378e-06	9.015e-07	0	0	.	.	0	0	0	0	0	0	9.015e-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	.	.	.	.	.	.	.	.	0.1	175.24	35	chr15	42417393	.	G	A	175.24	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.728;DP=234;ExcessHet=0.4139;FS=92.815;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=2.5;ReadPosRankSum=0.972;SOR=6.089	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,10:39:90:.:.:90,0,869:.	4	0	1	1
chr15	43614297	43614297	G	T	exonic	STRC	.	nonsynonymous SNV	STRC:NM_153700:exon6:c.C2212A:p.P738T	Deafness, autosomal recessive 16, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.516	0.140820242711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.62929	D	0.000000	1	0.81001	D	.	.	.	-1.77	0.83660	D	-2.54	0.55025	D	0.559	0.58373	0.274	0.87135	D	0.591	0.85360	D	10	0.7437157	0.75138	D	0.14082	0.82326	D	0.516	0.79340	0.445	0.50302	0.913952512674	0.91309	0.5373471694038021	0.53659	.	.	0.751072764397	0.74604	T	0.232225	0.59873	T	0.0956903	0.63824	D	-0.100324	0.63373	T	0.944799900054932	0.62133	D	0.835616	0.51030	T	0.5629836	0.70674	0.53227305	0.72973	0.5629836	0.70676	0.53227305	0.72974	-6.768	0.52321	T	0.6861523775254249	0.76323	0.392	0.59103	A	.;.	.;.	4.561747	0.71894	25.7	0.99642560854695683	0.76756	0.95944	0.66832	D	AEFI	0.641587	0.61887	D	0.578570789444664	0.71838	5.712197	0.573747125866061	0.73064	5.909678	0.995178111309716	0.33988	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	4.59	4.59	0.56297	4.857000	0.62639	5.888000	0.50725	0.664000	0.56970	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	14.994	0.71074	8	0.99202	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	129.8	.	chr15	43614297	.	G	T	129.8	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-2.151;DP=56;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=27;MQRankSum=0;QD=7.64;ReadPosRankSum=-1.51;SOR=0.293	GT:AD:DP:GQ:PL	0/1:11,6:17:99:139,0,296	4	0	1	1
chr15	43647354	43647354	G	C	exonic	CATSPER2	.	nonsynonymous SNV	CATSPER2:NM_001282310:exon3:c.C277G:p.L93V,CATSPER2:NM_172095:exon3:c.C259G:p.L87V,CATSPER2:NM_001282309:exon4:c.C259G:p.L87V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00243255626549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.469	0.08534	T	0.213	0.26549	T	0.077	0.26866	B	0.045	0.30390	B	0.368706	0.13560	N	0.527164	1	0.08975	N	2.36	0.67893	M	1.01	0.41058	T	-0.34	0.15986	N	0.265	0.33469	-1.0415	0.16860	T	0.096	0.36159	T	10	0.080896795	0.13182	T	0.002433	0.04785	T	0.025	0.05312	0.419	0.46036	0.268660756437	0.26461	0.3428325194606062	0.34196	0.264545597139	0.29001	0.501075148582	0.38979	T	0.033955	0.23128	T	-0.220856	0.17877	T	-0.555021	0.16847	T	0.131939588268337	0.15560	T	0.654634	0.26482	T	0.037492476	0.04818	0.02727005	0.00867	0.037492476	0.04817	0.02727005	0.00867	-4.323	0.28540	T	.	.	0.127	0.29394	B	.;.;.	.;.;.	0.557048	0.09254	6.038	0.70538219939313518	0.09328	0.03353	0.08440	N	AEFGBI	0.056418	0.10429	N	-0.966861337543713	0.09318	0.4405011	-1.07473700556886	0.08200	0.4021268	0.00235346445358995	0.09349	0.651	0.46895	0	0.633563	0.54681	0	0.566861	0.19136	0	0.683762	0.67416	0	.	.	3.29	1.35	0.21078	0.491000	0.22128	2.056000	0.30370	-0.642000	0.04431	0.043000	0.21118	0.985000	0.30750	0.080000	0.17246	0.264:0.0:0.736:0.0	5.727	0.17288	7	0.99271	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.125	38.74	34	chr15	43647354	.	G	C	38.74	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-2.282;DP=407;ExcessHet=0;FS=92.824;MLEAC=1;MLEAF=0.125;MQ=55.28;MQRankSum=-0.726;QD=0.43;ReadPosRankSum=-0.683;SOR=7.111	GT:AD:DP:GQ:PL	0/1:67,24:101:47:47,0,1334	3	0	1	2
chr15	51480616	51480616	G	C	exonic	DMXL2	.	nonsynonymous SNV	DMXL2:NM_001378460:exon21:c.C4471G:p.L1491V,DMXL2:NM_001174117:exon22:c.C4582G:p.L1528V,DMXL2:NM_001378464:exon23:c.C6250G:p.L2084V,DMXL2:NM_001174116:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378457:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378458:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378459:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378461:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378462:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378463:exon24:c.C6490G:p.L2164V,DMXL2:NM_015263:exon24:c.C6490G:p.L2164V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.704	0.117777155765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.094e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.405	0.69568	M	-2.06	0.85875	D	-2.88	0.60507	D	0.74	0.79406	0.483	0.90301	D	0.707	0.89914	D	10	0.7455675	0.75263	D	0.117777	0.79764	D	0.704	0.89376	0.462	0.53079	0.79628066686	0.79438	0.5831259576205228	0.58241	0.790969623184	0.65777	0.804797291756	0.82694	D	0.413358	0.76724	T	0.355009	0.86863	D	0.27217	0.86691	D	0.983855545520782	0.75369	D	0.938406	0.78595	D	0.71831286	0.79067	0.66708344	0.80475	0.71831286	0.79069	0.66708344	0.80476	-6.497	0.50739	T	.	.	0.783	0.76515	P	.;.;.	.;.;.	4.493995	0.70227	25.5	0.99814742571298831	0.89797	0.98484	0.83265	D	AEFBI	0.820937	0.74161	D	0.826416697591381	0.87726	9.319382	0.824365288908583	0.91435	10.88461	0.9999938428267	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	6.935000	0.75699	11.904000	0.99435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0725:0.0:0.9275:0.0	13.230	0.59363	505	0.75648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	48.55	43	chr15	51480616	.	G	C	48.55	.	AC=2;AF=0.333;AN=6;BaseQRankSum=-3;DP=390;ExcessHet=0.4139;FS=408.533;MLEAC=2;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.25;ReadPosRankSum=0.84;SOR=8.468	GT:AD:DP:GQ:PL	0/1:57,30:94:53:53,0,1061	1	0	2	3
chr15	60466706	60466706	T	C	exonic	ICE2	.	nonsynonymous SNV	ICE2:NM_001018089:exon5:c.A5G:p.K2R,ICE2:NM_001276385:exon5:c.A416G:p.K139R,ICE2:NM_024611:exon5:c.A416G:p.K139R	.	473	1012	31	6	0	43	0.0208031	.	.	.	247103	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.086	.	0.0034	0.00319489	0.0046	0.0006	0.0050	0	0.0017	0.0053	0.0123	0.0076	0.0042626	659	154602	rs141469235	0.0039	0.0039	0.0036	0.0042	0.0375	0.0038	0.0038	0.0334	0.0318	0.0009	0.0041	0.0116	0	0.0007	0.0375	0.0036	0.0053	0.0071	0.0034	0.0034	0.0034	0.0034	0.0060	0.0032	0.0031	0.0047	0.0043	0.0006	0	0.0056	0.0150	0	0.0003	0.0374	0.0044	0.0076	0.0060	0.132	0.28395	T	0.0	0.92824	D	0.011	0.15914	B	0.039	0.23607	B	0.000010	0.62929	N	0.143624	0.881205	0.28217	N	.	.	.	.	.	.	-1.16	0.38734	N	0.347	0.40565	-1.0173	0.24592	T	0.075	0.30086	T	9	0.0048990846	0.00105	T	.	.	.	0.086	0.25016	.	.	0.286465849087	0.28247	0.4481480065615123	0.44732	0.0322991013755	0.03370	0.416876375675	0.27408	T	0.195622	0.55175	T	-0.426762	0.01551	T	-0.381645	0.35531	T	0.00878286187625186	0.00108	T	0.627737	0.24333	T	0.073002785	0.16280	0.107430704	0.25862	0.073002785	0.16280	0.107430704	0.25861	-4.082	0.25024	T	.	.	0.096	0.16054	B	.;.;.;.	.;.;.;.	2.417906	0.31083	18.64	0.98980303629935873	0.49720	0.86475	0.45763	D	AEGBI	0.271256	0.38715	N	-0.568224593425859	0.19916	1.046035	-0.378723331715035	0.25632	1.41081	0.999987160530296	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.11	3.82	0.43153	2.645000	0.46287	1.930000	0.29765	-0.118000	0.14412	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.1301:0.0:0.8699	11.454	0.49414	923	0.18507	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.030746	0.020408	0.038043	0.035088	0.050000	0.060345	0.021341	0.015152	0.1667	1216.06	33	chr15	60466706	.	T	C	1216.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.53;DP=199;ExcessHet=0.4139;FS=2.147;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=17.37;ReadPosRankSum=-0.964;SOR=1.091	GT:AD:DP:GQ:PL	0/1:10,19:29:99:510,0,224	4	0	2	0
chr15	63305771	63305771	G	A	exonic	APH1B	.	nonsynonymous SNV	APH1B:NM_001145646:exon5:c.G641A:p.R214H,APH1B:NM_031301:exon6:c.G764A:p.R255H	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.0126351566441	.	.	1.655e-05	0	8.658e-05	0	0	0	0	6.141e-05	1.29e-05	2	154602	rs777058419	1.095e-05	1.163e-05	6.808e-06	1.513e-05	3.481e-05	6.48e-06	5.25e-06	9.25e-06	4.56e-06	2.99e-05	2.241e-05	0	0	0	0	9.893e-06	0	3.481e-05	1.314e-05	1.314e-05	1.285e-05	1.345e-05	6.546e-05	2.18e-06	8.2e-07	.	.	0	0	6.546e-05	0	0	0	0	0	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000005	0.62929	D	0.060836	0.999937	0.53665	D	2.47	0.71715	M	0.65	0.55266	T	-1.55	0.42001	N	0.224	0.55193	-0.5167	0.68039	T	0.286	0.65744	T	10	0.20211396	0.36320	T	0.012635	0.31371	T	0.214	0.50650	0.364	0.37036	0.893571130642	0.89252	0.48417106345959837	0.48337	0.0721561855387	0.08090	0.511343061924	0.40410	T	0.330714	0.70087	T	0.117533	0.66124	D	0.11258	0.77743	D	0.829352796077728	0.48480	D	0.866813	0.56740	D	0.36656192	0.58330	0.23024379	0.48120	0.36656192	0.58330	0.23024379	0.48119	-3.926	0.25379	T	.	.	0.089	0.26357	B	.;.	.;.	4.203584	0.63450	24.6	0.99944598841481891	0.99868	0.97675	0.76331	D	AEFBI	0.544473	0.55938	D	0.720730987254825	0.80992	7.418763	0.712991252429362	0.83363	8.002617	0.999999999994901	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.33	5.33	0.75683	5.091000	0.64338	3.898000	0.40333	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	14.547	0.67627	749	0.51929	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	191.83	33	chr15	63305771	.	G	A	191.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.392;DP=182;ExcessHet=0;FS=1.8;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.67;ReadPosRankSum=-1.166;SOR=1.356	GT:AD:DP:GQ:PL	0/1:17,8:25:99:202,0,475	5	0	1	0
chr15	65335889	65335889	C	G	exonic	IGDCC3	.	nonsynonymous SNV	IGDCC3:NM_004884:exon3:c.G477C:p.Q159H	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.502	0.0524302053619	.	0.000798722	0.0009	0	8.639e-05	0	0	0	0	0.0065	0.0007309	113	154602	rs557557266	0.0004	0.0004	0.0002	0.0006	0.0062	0.0004	0.0003	0.0058	0.0056	0	0	0	2.519e-05	0	0.0005	1.799e-06	0.0003	0.0062	0.0002	0.0002	6.424e-05	0.0003	0.0058	0.0001	0.0001	0.0041	0.0036	0	0	0	0	0	0	0	0	0	0.0058	0.006	0.61437	D	0.015	0.61642	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.915	0.23335	L	-0.31	0.68030	T	-2.57	0.64710	D	0.839	0.83473	-0.2385	0.76665	T	0.384	0.73958	T	10	0.021343976	0.00509	T	0.05243	0.65069	D	0.502	0.78475	0.687	0.82462	0.894168933668	0.89311	0.5886309699603336	0.58793	0.74872460195	0.63655	0.619669675827	0.55682	T	0.54465	0.84471	D	-0.139028	0.30045	T	0.0304089	0.72304	D	0.115459244114636	0.13981	T	0.855714	0.57326	D	0.58267087	0.71754	0.395421	0.64210	0.58267087	0.71755	0.395421	0.64210	-5.236	0.39305	T	.	.	0.421	0.60730	A	.;.;.	.;.;.	4.298123	0.65610	24.9	0.99747310178800219	0.84002	0.96663	0.70280	D	AEFDGBI	0.742263	0.68594	D	0.614536708300555	0.74094	6.074536	0.617220818180813	0.76189	6.445549	0.99999999995994	0.74766	0.643511	0.44296	0	0.563428	0.19063	0	0.688494	0.62686	0	0.530356	0.10902	0	.	.	5.06	5.06	0.67838	4.171000	0.58029	4.883000	0.45686	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	17.216	0.86826	534	0.73357	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1228.83	34	chr15	65335889	.	C	G	1228.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.249;DP=289;ExcessHet=0;FS=0.726;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=0.783;SOR=0.79	GT:AD:DP:GQ:PL	0/1:59,48:107:99:1239,0,1542	5	0	1	0
chr15	65390218	65390218	T	-	exonic	IGDCC4	.	frameshift deletion	IGDCC4:NM_020962:exon13:c.2345delA:p.N782Tfs*32	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1022.79	38	chr15	65390217	.	GT	G	1022.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.169;DP=249;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.6;ReadPosRankSum=0.077;SOR=0.577	GT:AD:DP:GQ:PL	0/1:23,32:55:99:1033,0,694	5	0	1	0
chr15	66326260	66326260	C	G	exonic	DIS3L	.	nonsynonymous SNV	DIS3L:NM_001323937:exon11:c.C1719G:p.S573R,DIS3L:NM_001323940:exon11:c.C987G:p.S329R,DIS3L:NM_001323943:exon11:c.C987G:p.S329R,DIS3L:NM_001323948:exon11:c.C1917G:p.S639R,DIS3L:NM_001143688:exon12:c.C2097G:p.S699R,DIS3L:NM_001323936:exon12:c.C1848G:p.S616R,DIS3L:NM_001323938:exon12:c.C1695G:p.S565R,DIS3L:NM_001323941:exon12:c.C1695G:p.S565R,DIS3L:NM_001323944:exon12:c.C2046G:p.S682R,DIS3L:NM_001323945:exon12:c.C1848G:p.S616R,DIS3L:NM_001323946:exon12:c.C1695G:p.S565R,DIS3L:NM_133375:exon12:c.C1848G:p.S616R,DIS3L:NM_001323939:exon13:c.C1695G:p.S565R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00807237602779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	7.595e-05	1.363e-06	1.376e-06	1.801e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.801e-06	0	0	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.155	0.25355	T	0.353	0.17320	T	0.029	0.19866	B	0.033	0.22329	B	0.055829	0.22610	N	0.539436	0.999548	0.47497	D	-0.285	0.03692	N	1.3	0.35590	T	-1.92	0.44657	N	0.196	0.22228	-1.0764	0.08063	T	0.043	0.18618	T	10	0.08429423	0.14113	T	0.008072	0.21393	T	0.025	0.05312	0.424	0.46857	0.500994481783	0.49735	0.48282530288770603	0.48202	0.189759959303	0.21295	0.441389143467	0.30767	T	0.019826	0.15725	T	-0.2058	0.19975	T	-0.533394	0.18948	T	0.371591597795486	0.27858	T	0.811819	0.46320	T	0.13266377	0.30883	0.17544033	0.40009	0.13266377	0.30882	0.17544033	0.40008	-9.64	0.71728	D	.	.	0.195	0.42820	B	.;.	.;.	2.006311	0.25495	16.78	0.99354999151066503	0.60738	0.93367	0.58027	D	AEFBI	0.310496	0.41649	N	-0.52080163687102	0.21409	1.135919	-0.344169861240159	0.26690	1.475863	0.235350875039061	0.18512	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	2.44	0.28875	0.637000	0.24348	0.590000	0.19811	0.581000	0.30040	0.997000	0.40164	0.998000	0.33993	0.995000	0.73285	0.0:0.5695:0.1341:0.2964	5.619	0.16725	644	0.63734	.;Ribonuclease II/R|Ribonuclease II/R	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	55.83	37	chr15	66326260	.	C	G	55.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.509;DP=340;ExcessHet=0;FS=80.209;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.75;ReadPosRankSum=2.05;SOR=5.545	GT:AD:DP:GQ:PL	0/1:59,15:74:66:66,0,1304	5	0	1	0
chr15	69417444	69417444	A	G	exonic	KIF23	.	nonsynonymous SNV	KIF23:NM_001367804:exon3:c.A143G:p.N48S,KIF23:NM_001367805:exon3:c.A143G:p.N48S,KIF23:NM_004856:exon3:c.A143G:p.N48S,KIF23:NM_138555:exon3:c.A143G:p.N48S	.	428	1080	13	1	0	15	0.00689655	.	.	.	726218	not_provided|KIF23-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.152	.	0.0002	0.00279553	0.0015	0	0.0011	0	0	0.0004	0	0.0085	0.0013583	210	154602	rs192879947	0.0008	0.0008	0.0005	0.0011	0.0090	0.0008	0.0008	0.0085	0.0083	2.987e-05	0.0009	0.0027	5.042e-05	0	0.0061	0.0002	0.0014	0.0090	0.0006	0.0007	0.0005	0.0008	0.0091	0.0005	0.0005	0.0070	0.0062	0	0	0.0008	0.0026	0	0	0	0.0005	0.0014	0.0091	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.003	0.08700	B	0.000061	0.52346	N	0.195620	0.993113	0.41840	D	-0.625	0.02162	N	-0.65	0.72237	T	0.5	0.02945	N	0.08	0.09631	-1.0807	0.07214	T	0.080	0.31615	T	10	0.0034461617	0.00061	T	.	.	.	0.152	0.39956	.	.	0.464821819423	0.46108	0.07012807034508808	0.06949	0.204006883498	0.22813	0.32368850708	0.13980	T	0.072884	0.47995	T	-0.571309	0.00217	T	-0.5866	0.13961	T	0.00738361362388325	0.00085	T	0.908809	0.68959	D	0.04059446	0.05823	0.045613233	0.06176	0.04407965	0.06984	0.04123185	0.04640	-2.56	0.06405	T	0.05705794585674227	0.01363	0.052	0.00428	B	.;.;.;.;.	.;.;.;.;.	0.044819	0.04601	1.272	0.81720292598187994	0.13826	0.07565	0.13576	N	AEFDBI	0.061391	0.11733	N	-1.14284557801011	0.05898	0.2701298	-1.10135828127927	0.07674	0.3742358	0.999757453963553	0.42595	0.719381	0.83141	0	0.662677	0.63036	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	4.43	-2.13	0.06745	0.152000	0.16120	0.770000	0.21388	0.756000	0.94297	0.033000	0.20612	0.433000	0.24865	0.983000	0.59808	0.6308:0.0:0.3692:0.0	9.486	0.38098	866	0.32446	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;.;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.003788	0.08333	600.83	37	chr15	69417444	.	A	G	600.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.355;DP=232;ExcessHet=0;FS=1.064;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=0.052;SOR=0.512	GT:AD:DP:GQ:PL	0/1:30,24:54:99:611,0,815	5	0	1	0
chr15	75206106	75206106	C	T	exonic	C15orf39	.	nonsynonymous SNV	C15orf39:NM_015492:exon2:c.C58T:p.R20C	.	433	1081	8	0	0	8	0.00368664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.113710655443	0.0023	0.00159744	0.0026	0.0007	0.0023	0.0002	0.0027	0.0035	0.0025	0.0015	0.0023997	371	154602	rs143806224	0.0032	0.0032	0.0033	0.0032	0.0036	0.0032	0.0031	0.0035	0.0035	0.0005	0.0022	0.0071	5.039e-05	0.0023	0.0016	0.0036	0.0025	0.0014	0.0027	0.0027	0.0030	0.0024	0.0040	0.0025	0.0024	0.0036	0.0035	0.0007	0.0011	0.0031	0.0066	0	0.0022	0.0034	0.0040	0.0033	0.0012	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.96	0.70309	D	0.149358	0.18020	N	0.490363	0.997412	0.43869	D	1.975	0.53506	M	-0.47	0.70133	T	-8.0	0.96495	D	0.673	0.68082	-0.2227	0.77079	T	0.359	0.72077	T	10	0.008951485	0.00203	T	0.113711	0.79231	D	0.337	0.65913	.	.	0.491438363841	0.48776	0.4184806125730701	0.41764	0.832611565215	0.67683	.	.	.	0.070762	0.46099	T	-0.266351	0.12166	T	-0.148832	0.59347	T	0.0585869488011129	0.06943	T	0.639136	0.62289	T	0.39791057	0.60587	0.27881762	0.53845	0.39791057	0.60588	0.27881762	0.53844	-6.244	0.49688	T	.	.	0.192	0.48521	B	.;.;.;.;.;.	.;.;.;.;.;.	4.551770	0.71641	25.7	0.95564501745913255	0.27246	0.91961	0.54639	D	AEFBCI	0.542004	0.55792	D	0.536594608906398	0.69271	5.333159	0.487098027702121	0.67133	5.043554	0.999999763053581	0.74766	0.736574	0.97449	0	0.672317	0.65289	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	4.73	3.77	0.42499	3.250000	0.51146	3.330000	0.37619	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.1808:0.8192:0.0:0.0	11.332	0.48719	419	0.81524	.;.;.;.;.;.	.	.	.	.	rs143806224	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.006812	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1216.83	34	chr15	75206106	.	C	T	1216.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.61;DP=256;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=-0.944;SOR=0.616	GT:AD:DP:GQ:PL	0/1:40,43:83:99:1227,0,930	5	0	1	0
chr15	75676407	75676407	C	T	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon10:c.G6112A:p.V2038I	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00268857773376	.	0.000199681	4.984e-05	0	0	0.0005	0	0	0	0.0001	4.53e-05	7	154602	rs199663560	3.695e-05	3.762e-05	3.132e-05	4.264e-05	0.0003	2.895e-05	2.593e-05	0.0001	0.0001	0	0	0	0.0002	0	0.0003	2.338e-05	4.968e-05	0.0002	4.594e-05	4.592e-05	1.284e-05	8.053e-05	0.0010	2.107e-05	1.525e-05	0.0004	0.0002	0	0	0	0	0.0010	0	0	1.47e-05	0	0.0002	0.143	0.25355	T	0.184	0.29056	T	0.205	0.29827	B	0.038	0.23361	B	0.178685	0.17163	N	0.544208	1	0.08975	N	0.85	0.21244	L	2.37	0.15964	T	-0.4	0.13805	N	0.036	0.01068	-1.0163	0.24916	T	0.031	0.13504	T	10	0.028495342	0.00981	T	0.002689	0.05521	T	0.033	0.08068	0.485	0.56780	0.144782658237	0.14088	0.3876331648704326	0.38678	0.272190986156	0.29729	0.330213010311	0.14966	T	0.074094	0.34855	T	-0.619922	0.00110	T	-0.745035	0.03683	T	0.0119730489273369	0.00188	T	0.448855	0.12628	T	0.025365936	0.01466	0.032629892	0.02028	0.025365936	0.01465	0.032629892	0.02028	-5.764	0.44259	T	.	.	0.078	0.06803	B	.	.	0.585196	0.09539	6.313	0.90574563371637107	0.19829	0.02518	0.07018	N	AEFDGBI	0.069447	0.13746	N	-0.825806203023056	0.12653	0.6181253	-0.818050910437572	0.14058	0.7326115	0.999981387714868	0.51787	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.567339	0.31927	0	.	.	4.62	3.51	0.39297	0.536000	0.22838	0.931000	0.22780	-0.831000	0.02872	0.000000	0.06391	0.995000	0.32472	0.014000	0.10232	0.0:0.2147:0.0:0.7853	6.610	0.21942	164	0.93620	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2370.83	42	chr15	75676407	.	C	T	2370.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.425;DP=374;ExcessHet=0;FS=0.542;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-0.319;SOR=0.776	GT:AD:DP:GQ:PL	0/1:86,98:184:99:2381,0,2000	5	0	1	0
chr15	78766976	78766976	C	T	exonic	ADAMTS7	.	nonsynonymous SNV	ADAMTS7:NM_014272:exon19:c.G2935A:p.E979K	.	777	736	7	2	0	11	0.0074174	.	.	.	2814403	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.080	0.0137141872735	0.0061	0.00279553	0.0050	0.0013	0.0018	0	0.0028	0.0068	0.0072	0.0061	0.0046636	721	154602	rs142824118	0.0073	0.0073	0.0075	0.0072	0.0085	0.0072	0.0072	0.0083	0.0083	0.0013	0.0023	0.0046	0	0.0034	0.0062	0.0085	0.0068	0.0050	0.0048	0.0048	0.0051	0.0046	0.0077	0.0046	0.0044	0.0072	0.0070	0.0017	0.0033	0.0047	0.0037	0	0.0027	0.0170	0.0077	0.0043	0.0027	0.745	0.03642	T	0.754	0.04737	T	0.104	0.25941	B	0.08	0.28873	B	0.029572	0.25434	N	0.374249	1	0.08975	N	0.99	0.25021	L	2.23	0.18083	T	-0.93	0.24898	N	0.251	0.28381	-0.9761	0.35882	T	0.023	0.09650	T	10	0.0047879815	0.00101	T	0.013714	0.33318	T	0.080	0.23350	.	.	0.259272394797	0.25527	0.4221608113651136	0.42133	0.192924809784	0.21626	0.361607074738	0.19620	T	0.007393	0.06799	T	-0.632425	0.00092	T	-0.67453	0.07321	T	0.00802774781014777	0.00095	T	0.171583	0.01629	T	0.03452273	0.03891	0.045653746	0.06190	0.03452273	0.03891	0.045653746	0.06189	-4.22	0.27040	T	.	.	0.060	0.00904	B	.	.	3.128772	0.42274	21.5	0.69891289535193057	0.09118	0.16885	0.19593	N	AEFGBI	0.161162	0.28718	N	-0.983271826971256	0.08960	0.42218	-0.924399695000994	0.11519	0.5873157	0.103581531675459	0.16451	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.83	3.92	0.44525	1.932000	0.39773	0.185000	0.15676	-0.375000	0.05424	0.095000	0.22689	0.004000	0.18990	0.018000	0.11154	0.0:0.6904:0.2244:0.0852	9.438	0.37814	499	0.76092	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007336	0.006329	0.008219	0.000000	0.000000	0.000000	0.016779	0.008130	0.08333	634.83	37	chr15	78766976	.	C	T	634.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.507;DP=223;ExcessHet=0;FS=1.174;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=0.684;SOR=0.597	GT:AD:DP:GQ:PL	0/1:18,27:45:99:645,0,383	5	0	1	0
chr15	88530840	88530840	T	C	exonic	DET1	.	nonsynonymous SNV	DET1:NM_001144074:exon2:c.A866G:p.D289G,DET1:NM_001321596:exon3:c.A866G:p.D289G,DET1:NM_017996:exon3:c.A899G:p.D300G,DET1:NM_001321594:exon4:c.A764G:p.D255G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.00613817741382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.51853	D	0.009	0.66756	D	0.505	0.37231	P	0.27	0.39872	B	0.000016	0.62929	D	0.152324	0.999966	0.81001	D	1.385	0.34509	L	.	.	.	-3.25	0.65283	D	0.479	0.51672	-0.7606	0.57373	T	0.199	0.55428	T	9	0.52906257	0.63078	D	0.006138	0.16082	T	0.318	0.64008	0.456	0.52102	0.0675242888579	0.06100	0.595297197239194	0.59459	0.736621479123	0.63016	0.657280743122	0.61021	T	0.425961	0.77591	T	0.0656937	0.60321	T	-0.143412	0.59821	T	0.961599886417389	0.66126	D	0.915108	0.69728	D	0.35442662	0.57409	0.35527286	0.61058	0.35442662	0.57409	0.35527286	0.61057	-3.559	0.17871	T	.	.	0.422	0.62236	A	.;.;.;.	.;.;.;.	3.993478	0.58790	24.0	0.9968250448962318	0.79373	0.98529	0.83755	D	AEFBI	0.844511	0.76147	D	0.374329023459271	0.60035	4.188161	0.514087085182772	0.68935	5.28951	0.999999999890716	0.74766	0.651	0.46895	0	0.546412	0.12157	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	7.279000	0.77969	7.849000	0.70877	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.003	0.80122	882	0.29131	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	36.41	99	chr15	88530840	.	T	C	36.41	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1;DP=504;ExcessHet=0.4139;FS=81.914;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.23;ReadPosRankSum=0.92;SOR=6.517	GT:AD:DP:GQ:PL	0/1:48,9:57:20:20,0,1076	4	0	2	0
chr15	88909921	88909921	T	C	exonic	MFGE8	.	nonsynonymous SNV	MFGE8:NM_001114614:exon2:c.A76G:p.I26V,MFGE8:NM_005928:exon2:c.A76G:p.I26V,MFGE8:NM_001310320:exon3:c.A52G:p.I18V	.	418	1097	7	0	0	7	0.00318037	.	.	.	726326	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.282	.	7.7e-05	0.0155751	0.0085	0	0.0007	0.0183	0	8.992e-05	0.0077	0.0520	0.0075937	1174	154602	rs143117049	0.0035	0.0035	0.0021	0.0049	0.0502	0.0034	0.0034	0.0490	0.0485	0.0002	0.0002	0	0.0103	1.874e-05	0.0019	7.554e-05	0.0051	0.0502	0.0028	0.0028	0.0018	0.0039	0.0576	0.0026	0.0025	0.0520	0.0499	0.0004	0	0.0005	0	0.0236	0	0	5.879e-05	0.0009	0.0576	0.838	0.16958	T	0.106	0.39799	T	0.005	0.14655	B	0.004	0.10090	B	0.000135	0.49741	D	0.244211	1	0.81001	D	-0.345	0.03330	N	-2.86	0.91421	D	0.08	0.06026	N	0.256	0.29197	-0.6061	0.64565	T	0.265	0.63577	T	10	0.0045621097	0.00095	T	.	.	.	0.282	0.59981	.	.	0.780309997318	0.77828	0.6435828370275465	0.64293	0.0927251273686	0.10471	0.412731528282	0.26835	T	0.044387	0.26799	T	-0.366783	0.03760	T	-0.263129	0.48510	T	0.0157270759769986	0.00364	T	0.350665	0.09032	T	0.019394567	0.00469	0.026178306	0.00694	0.019394567	0.00469	0.026178306	0.00694	-2.388	0.05423	T	.	.	0.079	0.12512	B	.;.;.;.	.;.;.;.	1.552104	0.19892	14.49	0.95068260374652636	0.26104	0.73719	0.36059	D	AEFBCI	0.464936	0.51322	N	-0.539347433875791	0.20819	1.100357	-0.343215859517718	0.26719	1.477697	0.999989497530103	0.51787	0.706548	0.73137	0	0.588015	0.36545	0	0.672317	0.60874	0	0.714379	0.83352	0	.	.	5.39	3.45	0.38602	3.918000	0.56144	3.800000	0.39865	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.913000	0.44837	0.0:0.1468:0.687:0.1662	9.669	0.39166	958	0.09170	EGF-like domain|EGF-like domain;EGF-like domain|EGF-like domain;EGF-like domain|EGF-like domain;EGF-like domain|EGF-like domain	.	.	.	.	rs143117049	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.000000	0.001359	0.005882	0.000000	0.000000	0.009146	0.026515	0.08333	798.83	34	chr15	88909921	.	T	C	798.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.668;DP=270;ExcessHet=0;FS=3.906;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=-0.157;SOR=0.397	GT:AD:DP:GQ:PL	0/1:60,38:98:99:809,0,1414	5	0	1	0
chr15	99132711	99132711	A	G	exonic	SYNM	.	nonsynonymous SNV	SYNM:NM_145728:exon4:c.A4351G:p.I1451V	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00123318090906	7.9e-05	0.000199681	0.0001	0	0	0	0	0.0001	0	0.0004	0.00011	17	154602	rs370571963	8.825e-05	8.824e-05	8.168e-05	9.489e-05	0.0009	7.555e-05	7.102e-05	0.0003	0.0002	0	4.472e-05	0	0	0	0.0009	9.174e-05	8.282e-05	0.0002	7.88e-05	7.874e-05	3.855e-05	0.0001	0.0002	4.494e-05	3.51e-05	4.766e-05	3.34e-05	4.812e-05	0	0	0	0	0	0.0034	0.0001	0.0005	0.0002	.	.	.	0.625	0.07316	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.073	0.04668	-0.9563	0.39861	T	0.020	0.08220	T	8	0.027727753	0.00914	T	0.001233	0.01633	T	0.023	0.04649	.	.	0.117506650769	0.11410	0.14303126578418757	0.14226	0.124980632661	0.14079	0.240338683128	0.02821	T	.	.	.	-0.466405	0.00896	T	-0.611542	0.11859	T	0.0136309899496088	0.00253	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.10931	B	.	.	-0.749739	0.01209	0.060	0.34508048629360066	0.02115	0.01064	0.03948	N	AEFGBI	.	.	.	-1.46855546491448	0.02075	0.09125643	-1.59901948979861	0.01661	0.07541884	0.999999994760164	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.46	-8.7	0.00738	-0.334000	0.07927	-0.708000	0.07763	-0.137000	0.12594	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.647:0.171:0.182:0.0	10.741	0.45348	981	0.03995	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	2059.83	40	chr15	99132711	.	A	G	2059.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.659;DP=406;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=0.308;SOR=0.67	GT:AD:DP:GQ:PL	0/1:110,94:204:99:2070,0,2762	5	0	1	0
chr15	99997488	99997488	A	G	exonic	ADAMTS17	.	nonsynonymous SNV	ADAMTS17:NM_139057:exon19:c.T2693C:p.V898A	Weill-Marchesani-like syndrome, Autosomal recessive	0	1506	16	0	0	16	0.00528402	.	.	.	754830	not_provided|Weill-Marchesani_4_syndrome,_recessive	MedGen:C3661900|MONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195,Orphanet:363992	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.253	0.0201417833019	0.0002	0.000599042	0.0007	0	8.726e-05	0.0001	0	0.0003	0.0011	0.0036	0.0005433	84	154602	rs202099735	0.0004	0.0004	0.0003	0.0005	0.0035	0.0004	0.0003	0.0032	0.0030	2.987e-05	2.236e-05	0	2.519e-05	3.782e-05	0.0031	0.0002	0.0004	0.0035	0.0003	0.0003	0.0002	0.0003	0.0035	0.0002	0.0002	0.0022	0.0018	2.407e-05	0	0.0001	0	0	9.418e-05	0.0034	0.0002	0.0005	0.0035	0.271	0.15984	T	0.011	0.64786	D	0.393	0.34680	B	0.134	0.33146	B	0.045781	0.23502	N	0.372597	0.999996	0.08975	N	1.425	0.35738	L	-0.0	0.62608	T	-0.76	0.21215	N	0.58	0.60156	-0.9900	0.32601	T	0.148	0.47451	T	10	0.014797449	0.00311	T	0.020142	0.42672	T	0.253	0.56294	.	.	0.827348007166	0.82571	0.15537829265778294	0.15458	0.318697235124	0.34087	0.388922989368	0.23518	T	0.01795	0.14556	T	-0.428246	0.01519	T	-0.390659	0.34473	T	0.0647822796994695	0.07899	T	0.755224	0.37818	T	0.09169297	0.21493	0.105991274	0.25491	0.093069576	0.21849	0.10509928	0.25256	-5.814	0.44696	T	.	.	0.249	0.48397	B	.	.	3.031351	0.40608	21.2	0.7352698582617071	0.10360	0.87264	0.46751	D	AEFDGBCIJ	0.839300	0.75672	D	-0.27156151480488	0.30250	1.685027	-0.219586762716545	0.30835	1.739573	0.999999697149024	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.608075	0.38828	0	0.620846	0.47308	0	.	.	5.06	5.06	0.67838	8.313000	0.89896	11.086000	0.85840	0.756000	0.94297	0.999000	0.42656	0.997000	0.33255	0.018000	0.11154	1.0:0.0:0.0:0.0	14.790	0.69455	944	0.12746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002016	0.000000	0.002725	0.000000	0.000000	0.000000	0.003049	0.003817	0.08333	1162.83	37	chr15	99997488	.	A	G	1162.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.14;DP=273;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=-0.969;SOR=0.742	GT:AD:DP:GQ:PL	0/1:48,45:93:99:1173,0,1257	5	0	1	0
chr16	426430	426430	C	G	exonic	RAB11FIP3	.	nonsynonymous SNV	RAB11FIP3:NM_001370401:exon1:c.C424G:p.P142A,RAB11FIP3:NM_014700:exon1:c.C424G:p.P142A	.	426	1052	44	0	0	44	0.0204842	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	.	0.0046	0.0131789	0.0127	0.0416	0.0086	0.0115	0	0.0074	0.0042	0.0157	0.0046248	715	154602	rs181591879	0.0044	0.0044	0.0041	0.0046	0.0223	0.0043	0.0042	0.0211	0.0206	0.0181	0.0028	0.0082	0.0223	0.0014	0.0114	0.0027	0.0058	0.0124	0.0084	0.0084	0.0086	0.0082	0.0187	0.0080	0.0079	0.0177	0.0172	0.0187	0.0384	0.0040	0.0101	0.0119	0.0010	0.0274	0.0032	0.0061	0.0112	0.228	0.30097	T	0.242	0.24264	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	-0.71	0.21644	N	0.048	0.01999	-1.0245	0.22246	T	0.012	0.04463	T	8	0.0030046105	0.00049	T	.	.	.	0.006	0.00375	.	.	0.102598925029	0.09809	0.1728067348510978	0.17200	0.989507635279	0.74020	0.423449724913	0.28312	T	0.007064	0.08010	T	-0.707651	0.00033	T	-0.773012	0.02670	T	0.00111585305542652	0.00011	T	.	.	.	0.04552668	0.07468	0.032954417	0.02112	0.04552668	0.07468	0.032954417	0.02112	-3.315	0.13932	T	.	.	0.053	0.00259	B	.;.	.;.	-1.276361	0.00458	0.010	0.58095512191038035	0.05915	0.02685	0.07319	N	AEFDBCIJ	0.036268	0.04805	N	-1.53237510094476	0.01640	0.07173305	-1.61767532201568	0.01551	0.07030326	0.999999086423531	0.74766	0.72623	0.87236	0	0.594344	0.48745	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	2.63	-5.25	0.02567	-3.580000	0.00474	-3.713000	0.02587	-1.310000	0.01236	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3572:0.3646:0.2782	4.337	0.10529	773	0.48803	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008682	0.000000	0.004098	0.014881	0.000000	0.017857	0.012500	0.015152	0.1667	2430.04	34	chr16	426430	.	C	G	2430.04	.	AC=2;AF=0.167;AN=12;DP=259;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.97;SOR=1.051	GT:AD:DP:GQ:PL	1/1:0,76:76:99:2450,228,0	5	1	0	0
chr16	791914	791914	C	T	exonic	CHTF18	.	nonsynonymous SNV	CHTF18:NM_022092:exon9:c.C1168T:p.H390Y	.	424	1094	4	0	0	4	0.00182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.717	0.321615525617	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1225257551	3.43e-06	3.42e-06	1.364e-06	5.52e-06	0.0002	1.01e-06	7.3e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.801e-06	1.66e-05	1.172e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.997	0.86255	D	0.000003	0.62929	D	0.102530	1	0.81001	D	1.92	0.51302	L	-3.11	0.92721	D	-5.07	0.82830	D	0.631	0.76296	0.835	0.94843	D	0.832	0.94359	D	10	0.7925717	0.78789	D	0.321616	0.91491	D	0.717	0.89966	0.552	0.66856	0.486993258117	0.48330	0.7767486852035991	0.77624	.	.	0.752134919167	0.74762	T	0.606467	0.87464	D	0.19	0.72963	D	0.138089	0.79421	D	0.981397271156311	0.73887	D	0.993042	0.97754	D	0.7431619	0.80473	0.6144834	0.77562	0.7431619	0.80475	0.6144834	0.77563	-12.285	0.86291	D	.	.	0.509	0.66168	A	.;.;.;.	.;.;.;.	4.157575	0.62416	24.5	0.99558118314254629	0.71583	0.95139	0.63581	D	AEFBHCI	0.908687	0.86431	D	0.463630553112402	0.64980	4.76534	0.355454822663368	0.58836	4.056876	0.999999999999795	0.74766	0.712529	0.81865	0	0.724815	0.89359	0	0.635938	0.45252	0	0.683762	0.67416	0	.	.	5.04	5.04	0.67293	7.759000	0.84086	7.536000	0.59999	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.009000	0.08673	0.0:1.0:0.0:0.0	15.880	0.78980	794	0.45591	ATPase, AAA-type, core|AAA+ ATPase domain;ATPase, AAA-type, core|AAA+ ATPase domain;.;ATPase, AAA-type, core|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2973.04	36	chr16	791914	.	C	T	2973.04	.	AC=2;AF=0.167;AN=12;DP=279;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=30.03;SOR=0.936	GT:AD:DP:GQ:PL	1/1:0,99:99:99:2993,296,0	5	1	0	0
chr16	2090293	2090293	C	T	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon45:c.G12433A:p.V4145I,PKD1:NM_001009944:exon45:c.G12436A:p.V4146I	Polycystic kidney disease, adult type I, Autosomal dominant	0	1451	67	4	0	75	0.0251931	.	.	.	255509	Polycystic_kidney_disease,_adult_type|Polycystic_kidney_disease|not_provided|not_specified	MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900|Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.072	0.0451531310905	0.0032	0.00339457	0.0048	0.0005	0.0035	0.0001	0.0056	0.0053	0.0080	0.0088	0.0044049	681	154602	rs148478410	0.0038	0.0038	0.0036	0.0041	0.0175	0.0038	0.0037	0.0148	0.0137	0.0007	0.0028	0.0022	0	0.0053	0.0175	0.0036	0.0045	0.0083	0.0033	0.0033	0.0037	0.0029	0.0064	0.0031	0.0030	0.0050	0.0048	0.0006	0	0.0016	0.0020	0.0004	0.0022	0	0.0055	0.0066	0.0064	0.163	0.23541	T	0.034	0.52727	D	0.972	0.61912	D	0.633	0.62418	P	0.075110	0.21243	N	0.475314	0.965042	0.25955	N	2.6	0.76081	M	1.31	0.35405	T	-0.76	0.21215	N	0.806	0.80180	-0.9105	0.46793	T	0.144	0.46587	T	10	0.010210127	0.00228	T	0.045153	0.61843	D	0.072	0.21020	.	.	0.783245712702	0.78124	0.2612534345992779	0.26038	.	.	0.55258089304	0.46222	T	0.239847	0.60805	T	-0.541596	0.00328	T	-0.544627	0.17844	T	0.0181758844097079	0.00538	T	0.836316	0.50742	T	0.2944897	0.52406	0.09615326	0.22835	0.29896998	0.52812	0.08810598	0.20521	-5.215	0.39094	T	0.5661712876178673	0.63361	0.221	0.45199	B	.;.	.;.	3.833642	0.55435	23.6	0.99708122681245359	0.81143	0.84668	0.43753	D	AEFDBCI	0.397753	0.47370	N	0.423190931841611	0.62700	4.490252	0.380317644411658	0.60350	4.221811	0.999999840776265	0.74766	0.741868	0.97996	0	0.702456	0.74545	0	0.774882	0.98623	0	0.562822	0.20929	0	.	.	4.02	4.02	0.45968	2.770000	0.47346	7.502000	0.59501	0.465000	0.21702	0.997000	0.40164	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	16.309	0.82694	774	0.48577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.014099	0.000000	0.016349	0.005848	0.050000	0.025862	0.024390	0.015152	0.1667	2877.04	62	chr16	2090293	.	C	T	2877.04	.	AC=2;AF=0.167;AN=12;DP=298;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=30.61;SOR=0.924	GT:AD:DP:GQ:PL	1/1:0,94:94:99:2897,281,0	5	1	0	0
chr16	2767906	2767906	C	T	exonic	SRRM2	.	nonsynonymous SNV	SRRM2:NM_016333:exon11:c.C7378T:p.R2460C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.0422206672784	7.7e-05	0.000399361	3.295e-05	9.612e-05	0	0	0	1.498e-05	0	0.0001	2.59e-05	4	154602	rs370096638	3.42e-05	3.42e-05	3.539e-05	3.3e-05	0.0012	2.631e-05	2.375e-05	0.0006	0.0004	2.987e-05	0	0	5.038e-05	3.745e-05	0.0012	2.698e-05	6.623e-05	4.637e-05	3.283e-05	3.281e-05	2.569e-05	4.03e-05	0.0002	1.26e-05	7.98e-06	.	.	2.407e-05	0	0	0	0.0002	0	0	1.47e-05	0.0005	0.0002	.	.	.	0.084	0.41239	T	0.999	0.77913	D	0.975	0.73362	D	0.000442	0.44317	D	0.101629	0.998002	0.44406	D	1.1	0.28011	L	-1.16	0.78082	T	-1.38	0.34198	N	0.539	0.56662	-0.0666	0.80853	T	0.439	0.77790	T	10	0.46834433	0.59709	T	0.042221	0.60351	D	0.318	0.64008	.	.	0.79645409113	0.79455	0.1509289265068259	0.15014	.	.	0.362705469131	0.19780	T	0.240228	0.60851	T	-0.105833	0.35457	T	-0.164097	0.57981	T	0.188368099905203	0.19748	T	0.816718	0.47282	T	0.24602081	0.47566	0.13037638	0.31329	0.24602081	0.47566	0.13037638	0.31328	-6.727	0.52013	T	.	.	0.134	0.29032	B	.	.	4.912131	0.80831	27.4	0.99934256955428813	0.99535	0.93083	0.57284	D	AEFDGBHCI	0.562176	0.56987	D	0.516009571924244	0.68037	5.162226	0.569918862148652	0.72795	5.866232	0.999999999997189	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.91	5.91	0.95240	4.537000	0.60354	5.989000	0.52298	0.599000	0.40250	0.994000	0.38300	1.000000	0.68203	0.908000	0.44358	0.0:1.0:0.0:0.0	15.805	0.78275	779	0.47767	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	2020.83	62	chr16	2767906	.	C	T	2020.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.67;DP=440;ExcessHet=0;FS=3.286;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=1.19;SOR=0.788	GT:AD:DP:GQ:PL	0/1:110,82:192:99:2031,0,2707	5	0	1	0
chr16	3356185	3356185	T	C	exonic	OR2C1	.	nonsynonymous SNV	OR2C1:NM_012368:exon1:c.T245C:p.L82P	.	425	1079	17	1	0	19	0.00872761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.00996368830233	0.0003	0.000998403	0.0008	0	8.637e-05	0	0.0002	0.0004	0.0022	0.0039	0.0006404	99	154602	rs149625259	0.0004	0.0004	0.0003	0.0006	0.0055	0.0004	0.0004	0.0044	0.0042	5.974e-05	0.0002	0.0005	0	1.872e-05	0.0055	0.0001	0.0007	0.0047	0.0003	0.0003	0.0002	0.0004	0.0058	0.0002	0.0002	0.0041	0.0036	7.216e-05	0	0.0003	0.0003	0	0	0.0034	0.0002	0.0005	0.0058	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	1.0	0.97372	D	0.006932	0.31707	N	0.000000	0.999996	0.58761	D	3.935	0.96350	H	7.45	0.00391	T	-6.72	0.92561	D	0.918	0.92084	-1.1106	0.03019	T	0.007	0.02244	T	10	0.05266249	0.05334	T	0.009964	0.25923	T	0.362	0.68230	.	.	0.744465519958	0.74216	0.6316848835877995	0.63102	0.47767146227	0.46874	0.658551573753	0.61202	T	0.014473	0.12316	T	-0.224347	0.17404	T	-0.0946311	0.63810	T	0.230201423168182	0.21961	T	0.775622	0.40735	T	0.9833335	0.99353	0.95905834	0.98921	0.9833335	0.99353	0.95905834	0.98921	-11.41	0.81858	D	.	.	0.531	0.65959	A	.	.	4.165723	0.62598	24.5	0.99802440215782584	0.88728	0.92773	0.56510	D	AEFDBHCI	0.820796	0.74150	D	0.724313960735914	0.81226	7.472882	0.562388526199704	0.72263	5.782371	0.0830305240005124	0.15916	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.5	4.5	0.54382	5.995000	0.70302	.	.	0.567000	0.28720	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.0:0.0:0.0:1.0	11.802	0.51403	659	0.61982	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.003788	0.08333	2421.83	115	chr16	3356185	.	T	C	2421.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.9;DP=616;ExcessHet=0;FS=1.204;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.16;ReadPosRankSum=0.284;SOR=0.616	GT:AD:DP:GQ:PL	0/1:74,97:171:99:2432,0,1984	5	0	1	0
chr16	3983244	3983244	G	A	exonic	ADCY9	.	nonsynonymous SNV	ADCY9:NM_001116:exon7:c.C2507T:p.A836V	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.0486917800279	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1417470406	2.503e-05	2.394e-05	1.976e-05	3.045e-05	5.602e-05	1.817e-05	1.608e-05	1.799e-05	1.549e-05	0	5.602e-05	0	0	0	0	2.595e-05	3.449e-05	3.787e-05	1.314e-05	1.313e-05	0	2.689e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.540843	0.11538	N	0.798338	1	0.08975	N	-1.555	0.00461	N	-1.6	0.82165	D	0.95	0.01509	N	0.056	0.02759	-0.9506	0.40868	T	0.172	0.51405	T	10	0.0685972	0.09724	T	0.048692	0.63487	D	0.223	0.52023	0.389	0.41115	0.580280631899	0.57699	0.34825334946674286	0.34739	0.415503631087	0.42205	0.278230965137	0.07248	T	0.202342	0.56049	T	-0.151491	0.28077	T	-0.261734	0.48651	T	0.0312527305302705	0.02186	T	0.782022	0.41734	T	0.0347112	0.03949	0.032299828	0.01945	0.0347112	0.03949	0.032299828	0.01945	-2.507	0.05829	T	.	.	0.057	0.00543	B	.	.	0.742262	0.11117	7.762	0.80603630230699552	0.13281	0.00580	0.02616	N	ALL	0.044859	0.07270	N	-1.1415795288929	0.05919	0.2711575	-0.957174047753913	0.10757	0.5438303	0.999999999999435	0.74766	0.839682	0.99964	0	0.68496	0.65989	0	0.736553	0.94036	0	0.572988	0.34948	1	.	.	5.94	3.74	0.42108	4.999000	0.63678	.	.	-0.132000	0.13132	0.650000	0.28172	0.563000	0.25531	0.116000	0.19000	0.8656:0.0:0.1344:0.0	9.798	0.39912	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1990.83	74	chr16	3983244	.	G	A	1990.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.524;DP=459;ExcessHet=0;FS=1.243;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=0.718;SOR=0.579	GT:AD:DP:GQ:PL	0/1:80,79:159:99:2001,0,2004	5	0	1	0
chr16	8813053	8813053	G	A	exonic	PMM2	.	nonsynonymous SNV	PMM2:NM_000303:exon7:c.G586A:p.V196M	Congenital disorder of glycosylation, type Ia, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	YES	1410379	PMM2-congenital_disorder_of_glycosylation|Inborn_genetic_diseases	MONDO:MONDO:0008907,MedGen:C0349653,OMIM:212065,Orphanet:79318|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.705	0.347927902809	.	0.000199681	6.589e-05	0	0	0	0	0	0	0.0005	6.47e-05	10	154602	rs547216044	2.942e-05	2.941e-05	1.362e-05	4.539e-05	0.0004	2.217e-05	1.97e-05	0.0003	0.0003	0	0	0	0	0	0.0002	2.699e-06	6.624e-05	0.0004	1.313e-05	1.312e-05	0	2.685e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.013	0.54683	D	0.006	0.70582	D	0.808	0.45299	P	0.608	0.51027	P	0.003248	0.35212	N	0.271313	0.938321	0.29986	N	3.04	0.86592	M	-5.05	0.98611	D	-1.11	0.39887	N	0.487	0.54147	1.034	0.97795	D	0.943	0.98136	D	10	0.42684644	0.57231	T	0.347928	0.92191	D	0.705	0.89422	0.727	0.86111	0.960751734495	0.96032	0.8116833759349465	0.81124	0.025904314707	0.02646	0.475555121899	0.35445	T	0.74684	0.96791	D	0.0199997	0.54382	T	0.112918	0.77767	D	0.435843285512629	0.30276	T	0.989814	0.96735	D	0.34722516	0.56851	0.35192344	0.60778	0.34722516	0.56851	0.35192344	0.60778	-10.386	0.76189	D	0.4208363599831601	0.50965	0.335	0.61546	B	.;.;.	.;.;.	3.317442	0.45614	22.2	0.99845323613098802	0.92489	0.45083	0.27460	N	AEFBCI	0.110565	0.21921	N	0.0924969324547519	0.46114	2.856802	-0.014434098152764	0.39061	2.310481	0.943236637733535	0.27559	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.89	3.91	0.44383	0.818000	0.26952	6.208000	0.54977	0.676000	0.76740	0.390000	0.26087	1.000000	0.68203	0.319000	0.24947	0.0913:0.3486:0.5601:0.0	7.233	0.25228	970	0.06235	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1375.83	34	chr16	8813053	.	G	A	1375.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.49;DP=285;ExcessHet=0;FS=0.732;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=-1.063;SOR=0.843	GT:AD:DP:GQ:PL	0/1:49,58:107:99:1386,0,1190	5	0	1	0
chr16	14582206	14582206	G	C	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon16:c.C1029G:p.C343W,PARN:NM_001134477:exon17:c.C984G:p.C328W,PARN:NM_002582:exon17:c.C1167G:p.C389W	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.443768951762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0022	0.0008	0.0006	0.0009	0.0007	0.0007	0.0008	0.0008	0.0005	4.476e-05	0.0001	0.0003	0	0.0002	0.0009	0.0006	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	1.91	0.47477	T	-9.08	0.98168	D	0.906	0.93370	-0.6388	0.63197	T	0.257	0.62766	T	10	0.95576084	0.94937	D	0.443769	0.94214	D	0.641	0.86333	0.808	0.92512	0.389283895039	0.38539	0.7594861977466015	0.75896	0.721414007513	0.62234	0.886558771133	0.94825	D	0.366013	0.73134	T	0.23211	0.76920	D	0.0956334	0.76619	D	0.997612833976746	0.91988	D	0.970303	0.89317	D	0.96886563	0.98153	0.88045895	0.93594	0.96886563	0.98153	0.88045895	0.93594	-17.118	0.99008	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.616746	0.51161	23.1	0.9928480025877614	0.58043	0.87022	0.46439	D	AEFBI	0.686411	0.64809	D	0.0378907468480801	0.43587	2.648657	-0.0492109747885764	0.37524	2.19827	0.0661472356186695	0.15384	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	0.019	0.13441	0.292000	0.18766	1.715000	0.28221	-0.681000	0.04224	0.982000	0.35529	1.000000	0.68203	0.977000	0.56843	0.4191:0.0:0.5809:0.0	11.520	0.49794	731	0.54177	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	767.5	148	chr16	14582206	.	G	C	767.5	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.234;DP=891;ExcessHet=6.1542;FS=400.495;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.22;ReadPosRankSum=0.634;SOR=11.48	GT:AD:DP:GQ:PL	0/1:58,36:94:99:128,0,876	1	0	5	0
chr16	14951798	14951798	C	T	exonic	NPIPA1	.	nonsynonymous SNV	NPIPA1:NM_006985:exon8:c.C826T:p.P276S	.	433	1082	6	0	1	7	0.00276498	.	.	.	2370845	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.190	0.00766007956938	.	.	8.02e-05	0	0	0	0	0.0001	0.0013	0	3.84e-05	1	26028	rs771941642	0.0008	0.0015	0.0006	0.0010	0.0065	0.0008	0.0008	0.0061	0.0059	6.046e-05	0.0004	0.0001	2.649e-05	2.474e-05	0.0026	0.0005	0.0007	0.0065	0.0002	0.0004	0.0002	0.0003	0.0019	0.0001	0.0001	0.0009	0.0006	2.551e-05	0	0.0004	0	0	0	0	0.0002	0	0.0019	0.121	0.27783	T	0.004	0.74150	D	0.999	0.77913	D	0.96	0.70309	D	.	.	.	.	1	0.08975	N	2.62	0.76659	M	-0.54	0.70950	T	-2.99	0.62151	D	0.11	0.09631	-0.6270	0.63698	T	0.423	0.76757	T	7	0.14154732	0.26894	T	0.00766	0.20325	T	0.190	0.46781	.	.	0.290222751274	0.28632	0.015466620623671974	0.01502	2.79814820781	0.98885	.	.	.	0.152639	0.49313	T	-0.298217	0.08828	T	-0.406465	0.32635	T	0.124515598823261	0.14865	T	0.924508	0.72366	D	0.07373122	0.16497	0.14904751	0.35208	0.07373122	0.16497	0.14904751	0.35207	-7.048	0.54383	T	.	.	0.125	0.26357	B	.	.	1.066016	0.14482	11.05	0.51449680870076853	0.04565	0.00205	0.01173	N	AEFI	0.067614	0.13300	N	-0.465009060874881	0.23233	1.246242	-0.810321450588437	0.14246	0.7433673	1.31958686603976E-5	0.02871	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.579976	0.35079	0	.	.	.	.	.	-1.896000	0.01696	-4.195000	0.02288	-1.772000	0.00663	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	744	0.52588	.	.	.	.	.	.	Likely benign	0	0	0	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	0.000612	0.000000	0.000000	0.000000	0.083333	0.000000	0.000000	0.000000	0.08333	36.83	36	chr16	14951798	.	C	T	36.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.383;DP=195;ExcessHet=0;FS=5.999;MLEAC=1;MLEAF=0.083;MQ=24.7;MQRankSum=0.54;QD=1.53;ReadPosRankSum=1.13;SOR=0.083	GT:AD:DP:GQ:PL	0/1:20,4:24:47:47,0,512	5	0	1	0
chr16	22133009	22133009	G	A	exonic	VWA3A	.	nonsynonymous SNV	VWA3A:NM_173615:exon20:c.G1982A:p.R661H	.	431	1067	23	1	0	25	0.0115794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00981108398019	0.0034	0.00159744	0.0033	0.0004	0.0025	0	0.0002	0.0047	0.0034	0.0033	0.0030401	470	154602	rs193072842	0.0033	0.0034	0.0033	0.0034	0.0130	0.0033	0.0032	0.0106	0.0098	0.0007	0.0022	0.0281	7.557e-05	0.0002	0.0130	0.0031	0.0044	0.0033	0.0028	0.0027	0.0028	0.0027	0.0033	0.0025	0.0024	0.0028	0.0026	0.0006	0	0.0028	0.0317	0.0002	0	0.0034	0.0031	0.0057	0.0033	0.194	0.24277	T	0.235	0.29945	T	0.014	0.16867	B	0.01	0.14941	B	0.001147	0.40056	N	0.227351	0.750423	0.81001	D	1.475	0.37068	L	1.91	0.53088	T	-1.9	0.50337	N	0.1	0.08227	-1.1148	0.02688	T	0.068	0.28013	T	10	0.006254852	0.00141	T	0.009811	0.25586	T	0.034	0.08419	.	.	0.266385636622	0.26244	0.3237690010323594	0.32289	0.0535352238273	0.05900	0.277040153742	0.07083	T	0.015616	0.13063	T	-0.417689	0.01770	T	-0.369032	0.37003	T	0.0110051758183337	0.00159	T	0.647135	0.25820	T	0.12731166	0.29795	0.096040405	0.22802	0.12731166	0.29794	0.096040405	0.22802	-6.195	0.47882	T	.	.	0.077	0.06479	B	.;.;.	.;.;.	2.166792	0.27606	17.52	0.99773008339121061	0.86088	0.79769	0.39593	D	AEFDBI	0.291974	0.40297	N	-0.0164609820574259	0.41110	2.453219	0.128452929557453	0.46011	2.85421	0.593625954034329	0.21667	0.497415	0.19182	0	0.59043	0.45803	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.49	5.49	0.81022	2.867000	0.48126	5.033000	0.46843	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.484000	0.28656	0.0:0.0:1.0:0.0	16.089	0.80891	447	0.79583	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.000000	0.012228	0.029240	0.000000	0.000000	0.012195	0.003788	0.1667	1552.04	34	chr16	22133009	.	G	A	1552.04	.	AC=2;AF=0.167;AN=12;DP=256;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=28.74;SOR=0.767	GT:AD:DP:GQ:PL	1/1:0,54:54:99:1572,162,0	5	1	0	0
chr16	29383572	29383574	TAT	-	exonic	NPIPB11	.	nonframeshift deletion	NPIPB11:NM_001310137:exon8:c.1358_1360del:p.N453del	.	588	894	40	0	0	40	0.0218818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0132	0.0069	0.0158	0	0.0022	0.0195	0.0060	0.0102	3.84e-05	1	26028	rs746135908	0.0063	0.0059	0.0057	0.0068	0.0208	0.0061	0.0061	0.0171	0.0157	0.0017	0.0065	0.0183	0	0.0051	0.0208	0.0064	0.0094	0.0024	0.0053	0.0058	0.0051	0.0055	0.0074	0.0048	0.0046	0.0066	0.0064	0.0011	0.0093	0.0045	0.0117	0	0.0012	0.0294	0.0074	0.0035	0.0016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2402.99	43	chr16	29383571	.	ATAT	A	2402.99	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.305;DP=446;ExcessHet=1.383;FS=8.052;MLEAC=3;MLEAF=0.25;MQ=35.66;MQRankSum=-0.782;QD=8.64;ReadPosRankSum=0.166;SOR=1.203	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,42:109:99:0|1:29383571_ATAT_A:1523,0,2510:29383571	3	0	3	0
chr16	31476134	31476134	-	T	exonic	TGFB1I1	.	stopgain	TGFB1I1:NM_001042454:exon8:c.838dupT:p.E281*,TGFB1I1:NM_001164719:exon8:c.787dupT:p.E264*,TGFB1I1:NM_015927:exon8:c.787dupT:p.E264*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.362e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2399.01	34	chr16	31476134	.	C	CT	2399.01	.	AC=2;AF=0.167;AN=12;DP=253;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=33.32;SOR=0.934	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2419,217,0	5	1	0	0
chr16	55810997	55810997	T	C	exonic	CES1	.	nonsynonymous SNV	CES1:NM_001025194:exon10:c.A1097G:p.Y366C,CES1:NM_001025195:exon10:c.A1100G:p.Y367C,CES1:NM_001266:exon10:c.A1094G:p.Y365C	Carboxylesterase 1 deficiency (3)	48	1451	22	1	0	24	0.00820232	.	.	.	3293315	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.180	0.0610627852147	0.0005	0.000399361	0.0008	0.0001	0.0014	0	0	0.0009	0.0011	0.0014	0.000815	126	154602	rs146595460	0.0006	0.0007	0.0006	0.0007	0.0232	0.0006	0.0006	0.0200	0.0188	0.0002	0.0017	3.83e-05	2.519e-05	1.873e-05	0.0232	0.0005	0.0016	0.0011	0.0007	0.0007	0.0008	0.0007	0.0018	0.0006	0.0006	0.0009	0.0007	0.0002	0	0.0010	0	0.0002	0	0.0216	0.0010	0.0021	0.0018	0.091	0.31834	T	0.139	0.36497	T	0.073	0.25085	B	0.067	0.31460	B	0.020799	0.26966	N	0.263259	1	0.08975	N	2.21	0.62235	M	-0.27	0.67367	T	-4.88	0.81514	D	0.619	0.63459	-0.7866	0.55927	T	0.248	0.61716	T	10	0.067707956	0.09472	T	0.061063	0.68209	D	0.180	0.45073	.	.	0.349647731962	0.34572	0.5888869046358343	0.58818	0.192353595073	0.21563	0.428192168474	0.28962	T	0.438382	0.78406	T	-0.385286	0.02884	T	-0.350841	0.39109	T	0.0287889939344479	0.01806	T	0.314169	0.08250	T	0.41461518	0.61731	0.35702112	0.61203	0.41461518	0.61732	0.35702112	0.61203	-5.588	0.63945	T	0.6357578900828309	0.70576	0.268	0.50232	B	.;.;.	.;.;.	1.116739	0.15023	11.52	0.56484486661834254	0.05562	0.04586	0.10236	N	AEFBI	0.392498	0.47052	N	-0.912229294996226	0.10555	0.504939	-0.968974354935353	0.10486	0.5284446	0.00248345263689058	0.09470	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.54	0.628	0.16854	-0.275000	0.08557	-10.792000	0.00665	-0.178000	0.10482	0.153000	0.23698	0.000000	0.08366	0.065000	0.16320	0.327:0.0:0.1696:0.5034	4.815	0.12728	928	0.17405	.;.;Carboxylesterase, type B	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015106	0.030303	0.013587	0.023392	0.000000	0.017241	0.006098	0.003788	0.1667	2892.06	35	chr16	55810997	.	T	C	2892.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.77;DP=772;ExcessHet=0.4139;FS=0.584;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=5.45;ReadPosRankSum=0.161;SOR=0.75	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:224,69:293:99:.:.:1217,0,5605:.	4	0	2	0
chr16	57813723	57813723	T	0	exonic	LOC388282	.	.	.	.	519	727	164	25	87	301	0.128297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	623.27	34	chr16	57813723	.	T	*	623.27	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.512;DP=283;ExcessHet=1.383;FS=3.618;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=3.73;ReadPosRankSum=1.13;SOR=0.453	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,25:49:99:0|1:57813722_ATG_A:978,0,932:57813722	4	0	2	0
chr16	58286046	58286046	G	A	exonic	PRSS54	.	nonsynonymous SNV	PRSS54:NM_001305174:exon4:c.C116T:p.A39V,PRSS54:NM_001080492:exon5:c.C413T:p.A138V,PRSS54:NM_001305173:exon5:c.C413T:p.A138V	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.0293956057367	7.7e-05	0.000199681	0.0001	0	8.637e-05	0	0	0.0002	0	0.0002	0.0001229	19	154602	rs149972398	0.0001	0.0001	0.0001	0.0001	0.0016	0.0001	0.0001	0.0008	0.0006	0	0.0001	3.826e-05	0.0001	0	0.0016	0.0001	0.0003	0.0003	6.566e-05	6.562e-05	7.708e-05	5.372e-05	0.0001	3.514e-05	2.614e-05	6.804e-05	5.087e-05	0	0	6.539e-05	0	0	0	0	0.0001	0	0	0.028	0.51853	D	0.0	0.92824	D	1.0	0.90584	D	0.908	0.64494	P	0.072678	0.21394	N	0.437819	1	0.08975	N	2.47	0.71715	M	0.23	0.59717	T	-2.28	0.52776	N	0.341	0.38232	-0.6808	0.61335	T	0.328	0.69581	T	10	0.1095196	0.20433	T	0.029396	0.51914	D	0.279	0.59619	.	.	0.811149560326	0.80938	0.4470429636720386	0.44622	0.582402522763	0.53999	0.344212532043	0.17066	T	0.295808	0.82647	T	-0.237633	0.15653	T	-0.314692	0.43153	T	0.0754743612611495	0.09398	T	0.747925	0.37414	T	0.26042855	0.49099	0.31217146	0.57220	0.26042855	0.49099	0.31217146	0.57219	-5.304	0.39983	T	.	.	0.159	0.42141	B	.;.;.;.;.	.;.;.;.;.	3.002994	0.40130	21.1	0.99569628533922661	0.72318	0.08845	0.14713	N	AEFDGBI	0.117143	0.22962	N	-0.13467665108666	0.35889	2.067235	-0.306003962076281	0.27905	1.551775	0.00927490456051667	0.11826	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.5	3.47	0.38831	2.168000	0.42051	2.433000	0.32739	-0.201000	0.08892	0.032000	0.20554	0.272000	0.24054	0.768000	0.36443	0.0:0.0:0.634:0.366	11.033	0.47004	759	0.50631	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1379.83	38	chr16	58286046	.	G	A	1379.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.247;DP=294;ExcessHet=0;FS=0.694;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=2.6;SOR=0.614	GT:AD:DP:GQ:PL	0/1:55,59:114:99:1390,0,1207	5	0	1	0
chr16	67282630	67282630	G	A	exonic	PLEKHG4	.	nonsynonymous SNV	PLEKHG4:NM_001129731:exon8:c.G1138A:p.G380R,PLEKHG4:NM_001129728:exon10:c.G1381A:p.G461R,PLEKHG4:NM_001129729:exon10:c.G1381A:p.G461R,PLEKHG4:NM_001129727:exon11:c.G1381A:p.G461R	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00399550245049	7.7e-05	0.000399361	0.0006	0	0	0.0012	0.0002	0.0009	0	0	0.0005175	80	154602	rs193198236	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	0	2.236e-05	3.826e-05	0.0006	0.0002	0.0002	0.0002	0.0004	1.159e-05	0.0002	0.0002	0.0002	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	2.405e-05	0	0	0	0.0008	0.0003	0	0.0003	0	0	0.544	0.06713	T	0.238	0.24549	T	0.002	0.11197	B	0.001	0.06944	B	0.474660	0.04946	N	1.426990	1	0.08975	N	0.205	0.09354	N	3.08	0.08460	T	-1.66	0.39692	N	0.125	0.16308	-1.0229	0.22769	T	0.019	0.08033	T	10	0.010940433	0.00241	T	0.003996	0.09462	T	0.057	0.16321	0.294	0.25720	0.314417295294	0.31040	0.31435362083048535	0.31348	0.310774122975	0.33387	0.231708735228	0.02097	T	0.044618	0.26872	T	-0.670469	0.00055	T	-0.786299	0.02268	T	0.0180221467409759	0.00526	T	0.626037	0.24205	T	0.050289325	0.09062	0.071095616	0.15182	0.050289325	0.09061	0.071095616	0.15181	-1.71	0.04060	T	.	.	0.092	0.13783	B	.;.;.;.	.;.;.;.	-0.669307	0.01394	0.081	0.61903570999372792	0.06826	0.01179	0.04229	N	AEFDBI	0.040483	0.06028	N	-1.6673685925893	0.00964	0.04177623	-1.78339400991583	0.00814	0.03632868	0.999999994994447	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	5.93	-9.62	0.00458	-1.741000	0.01936	-1.104000	0.06319	-0.645000	0.04412	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.7908:0.0:0.2092:0.0	18.249	0.89934	23	0.98420	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	2118.83	37	chr16	67282630	.	G	A	2118.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.876;DP=421;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=0.598;SOR=0.733	GT:AD:DP:GQ:PL	0/1:107,90:197:99:2129,0,2531	5	0	1	0
chr16	67977673	67977673	C	T	exonic	DPEP3	.	nonsynonymous SNV	DPEP3:NM_001129758:exon6:c.G913A:p.D305N,DPEP3:NM_001370198:exon6:c.G913A:p.D305N	.	424	1091	6	1	0	8	0.00365297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.536	.	0.0085	0.00179712	0.0071	0.0018	0.0050	0	0.0075	0.0108	0.0042	0.0005	0.0057567	890	154602	rs113700215	0.0084	0.0085	0.0087	0.0082	0.0100	0.0083	0.0083	0.0098	0.0097	0.0016	0.0043	0.0071	2.523e-05	0.0049	0.0094	0.0100	0.0078	0.0005	0.0065	0.0065	0.0069	0.0061	0.0107	0.0062	0.0060	0.0101	0.0098	0.0016	0	0.0052	0.0072	0	0.0058	0.0170	0.0107	0.0057	0.0015	0.019	0.50132	D	0.027	0.55341	D	.	.	.	.	.	.	0.000069	0.52346	D	0.163209	0.999962	0.52935	D	.	.	.	-1.05	0.76690	T	-4.94	0.81835	D	0.843	0.83885	0.294	0.87457	D	0.622	0.86684	D	10	0.030775398	0.01206	T	.	.	.	0.536	0.80545	.	.	0.738534255785	0.73619	0.6396339928951928	0.63898	0.655607062835	0.58596	0.517298877239	0.41246	T	.	.	.	-0.373134	0.03439	T	-0.299362	0.44792	T	0.0678064081343493	0.08340	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.892310	0.56638	23.8	0.99900943855581004	0.97275	0.92204	0.55177	D	AEFDBCI	0.601214	0.59355	D	0.64643027164283	0.76138	6.431471	0.469742295633751	0.65994	4.894725	0.999579298714507	0.40495	0.706298	0.61202	0	0.626922	0.53725	0	0.709663	0.75317	0	0.63947	0.58350	0	.	.	4.84	2.85	0.32333	5.890000	0.69515	1.819000	0.29025	0.597000	0.34315	1.000000	0.71638	0.934000	0.28616	0.613000	0.31716	0.0:0.7645:0.1517:0.0838	8.874	0.34493	10	0.99061	.	.	.	.	.	rs113700215	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	0.004532	0.000000	0.006793	0.008772	0.000000	0.000000	0.003049	0.000000	0.08333	959.83	38	chr16	67977673	.	C	T	959.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.049;DP=236;ExcessHet=0;FS=5.716;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.27;ReadPosRankSum=0.664;SOR=1.63	GT:AD:DP:GQ:PL	0/1:24,35:59:99:970,0,577	5	0	1	0
chr16	69711199	69711199	C	T	exonic	NQO1	.	nonsynonymous SNV	NQO1:NM_001286137:exon4:c.G386A:p.R129Q,NQO1:NM_001025433:exon5:c.G500A:p.R167Q,NQO1:NM_001025434:exon5:c.G488A:p.R163Q,NQO1:NM_000903:exon6:c.G602A:p.R201Q	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.0482100442533	.	.	4.946e-05	0	0	0.0001	0	1.499e-05	0	0.0002	3.88e-05	6	154602	rs766847268	3.215e-05	3.215e-05	2.722e-05	3.713e-05	0.0002	2.478e-05	2.22e-05	0.0002	0.0001	0	0	0	5.038e-05	0	0.0002	1.978e-05	1.656e-05	0.0002	1.972e-05	1.97e-05	3.854e-05	0	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	0.106	0.91255	T	0.007	0.69154	D	1.0	0.90584	D	0.986	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.205	0.89189	M	2.92	0.09915	T	-3.91	0.73042	D	0.865	0.88466	-0.9984	0.30367	T	0.112	0.40099	T	10	0.94267154	0.93592	D	0.04821	0.63269	D	0.362	0.68230	0.787	0.90993	0.661220806347	0.65838	0.9502973620784766	0.95012	1.20347111014	0.80607	0.376145541668	0.21709	T	0.219086	0.58199	T	0.0326523	0.56077	T	0.083426	0.75808	D	0.936216950416565	0.60504	D	0.858514	0.54939	D	0.8986126	0.91259	0.82499266	0.89860	0.8986126	0.91260	0.82499266	0.89860	-3.322	0.60858	T	.	.	0.182	0.43186	B	.;.;.;.;.;.	.;.;.;.;.;.	4.097170	0.61070	24.3	0.99946680510414521	0.99913	0.94205	0.60432	D	AEFDBCI	0.799517	0.72575	D	0.705202886678293	0.79974	7.192453	0.608705958684568	0.75573	6.334144	1.0	0.98316	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.41	5.41	0.78313	5.524000	0.66820	3.301000	0.37383	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.469000	0.28319	0.0:1.0:0.0:0.0	18.331	0.90211	74	0.96871	.;.;Flavodoxin-like fold;.;.;Flavodoxin-like fold	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	321.83	38	chr16	69711199	.	C	T	321.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.37;DP=187;ExcessHet=0;FS=8.33;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=-0.326;SOR=2.127	GT:AD:DP:GQ:PL	0/1:19,13:32:99:332,0,448	5	0	1	0
chr16	70156667	70156667	C	T	exonic	PDPR	.	nonsynonymous SNV	PDPR:NM_001322118:exon17:c.C2128T:p.R710C,PDPR:NM_001322119:exon17:c.C1222T:p.R408C,PDPR:NM_001322117:exon19:c.C2428T:p.R810C,PDPR:NM_017990:exon19:c.C2428T:p.R810C	.	411	1064	47	0	0	47	0.0216092	.	.	.	3214454	not_provided|PDPR-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.593	.	0.0056	0.00419329	0.0061	0.0051	0.0043	0.0002	0.0018	0.0076	0.0156	0.0065	0.0056209	869	154602	rs141395281	0.0049	0.0062	0.0048	0.0050	0.0207	0.0048	0.0048	0.0177	0.0165	0.0054	0.0050	0.0219	7.557e-05	0.0009	0.0207	0.0046	0.0071	0.0057	0.0054	0.0063	0.0056	0.0052	0.0062	0.0051	0.0050	0.0051	0.0049	0.0048	0	0.0062	0.0196	0.0006	0.0006	0.0377	0.0056	0.0171	0.0058	0.0	0.91255	D	0.0	0.92824	D	0.344	0.33532	B	0.108	0.31289	B	0.000002	0.62929	D	0.060606	1	0.81001	D	1.425	0.35738	L	-1.17	0.78199	T	-4.37	0.81835	D	0.76	0.91162	-0.2061	0.77514	T	0.364	0.72506	T	10	0.008982539	0.00203	T	.	.	.	0.593	0.83802	.	.	0.843224510663	0.84172	0.8173182629007808	0.81688	0.371021257662	0.38606	0.767588675022	0.77064	T	0.34377	0.86264	T	0.037008	0.56652	T	0.282856	0.87274	D	0.0339612259325702	0.02631	T	0.961904	0.90356	D	0.41766918	0.61936	0.32478216	0.58399	0.43338367	0.62974	0.32478216	0.58399	-7.755	0.59389	D	.	.	0.195	0.44358	B	.;.;.;.;.	.;.;.;.;.	4.635750	0.73751	26.0	0.98498878817887714	0.42192	0.95003	0.63085	D	AEFDGBCI	0.788991	0.71831	D	0.280073968342618	0.55139	3.678235	0.379189621332959	0.60284	4.214227	0.999999999993714	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	4.756000	0.61902	7.546000	0.60178	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.638000	0.32368	0.1473:0.8526:0.0:0.0	14.406	0.66651	172	0.93355	Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.033736	0.030303	0.047554	0.043860	0.000000	0.034483	0.030488	0.007576	0.1667	6133.06	340	chr16	70156667	.	C	T	6133.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.8;DP=794;ExcessHet=0.4139;FS=1.795;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=1.92;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:211,83:294:99:0|1:70156667_C_T:1627,0,6408:70156667	4	0	2	0
chr16	70156673	70156673	G	A	exonic	PDPR	.	nonsynonymous SNV	PDPR:NM_001322118:exon17:c.G2134A:p.V712I,PDPR:NM_001322119:exon17:c.G1228A:p.V410I,PDPR:NM_001322117:exon19:c.G2434A:p.V812I,PDPR:NM_017990:exon19:c.G2434A:p.V812I	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.0221185685047	.	.	2.484e-05	0	0	0.0001	0	1.498e-05	0	6.056e-05	1.94e-05	3	154602	rs769864545	2.463e-05	2.599e-05	2.314e-05	2.613e-05	0.0002	1.803e-05	1.6e-05	5.804e-05	3.952e-05	0.0001	0.0001	0	2.519e-05	0	0.0002	1.439e-05	6.626e-05	4.637e-05	1.313e-05	1.313e-05	2.568e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.347	0.17183	T	0.418	0.15698	T	0.805	0.45210	P	0.251	0.39041	B	0.003577	0.34767	N	0.272597	1	0.81001	D	0.705	0.18577	N	-0.73	0.73100	T	-0.45	0.17834	N	0.255	0.31140	-0.8827	0.49545	T	0.143	0.46404	T	10	0.28888893	0.46471	T	0.022119	0.44975	T	0.233	0.53499	0.421	0.46365	0.696055638072	0.69343	0.37690752582351267	0.37605	0.0528722690581	0.05827	0.539738893509	0.44409	T	0.086557	0.62422	T	-0.242974	0.14973	T	-0.317492	0.42850	T	0.141180750124532	0.16377	T	0.869413	0.61778	D	0.015837802	0.00160	0.029511323	0.01296	0.015837802	0.00160	0.029511323	0.01296	-5.571	0.42526	T	.	.	0.092	0.16843	B	.;.;.;.;.	.;.;.;.;.	2.997861	0.40049	21.1	0.92556284520899013	0.22008	0.96601	0.69959	D	AEFDGBCI	0.850647	0.76748	D	-0.313313313747134	0.28641	1.581485	-0.211540607016191	0.31119	1.758283	0.999999997292901	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	6.03	4.08	0.46880	8.103000	0.89389	7.375000	0.58420	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.686000	0.33718	0.1375:0.0:0.8625:0.0	12.331	0.54364	172	0.93355	Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel 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	.	.	.	.	.	.	.	.	0.08333	1266.83	38	chr16	70156673	.	G	A	1266.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.201;DP=478;ExcessHet=0;FS=17.338;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=4.35;ReadPosRankSum=-0.181;SOR=1.123	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:224,67:291:99:1|0:70156667_C_T:1277,0,7293:70156667	5	0	1	0
chr16	70674433	70674433	C	T	exonic	MTSS2	.	nonsynonymous SNV	MTSS2:NM_138383:exon11:c.G926A:p.S309N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0201452794693	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.013	0.63109	D	0.584	0.38894	P	0.177	0.35687	B	0.002269	0.36887	U	0.211722	0.997475	0.43918	D	2.425	0.70256	M	1.34	0.34841	T	-1.17	0.29933	N	0.214	0.27077	-0.9181	0.45811	T	0.111	0.39794	T	10	0.22999194	0.39940	T	0.020145	0.42684	T	0.066	0.19193	0.277	0.23004	0.213499824651	0.20940	0.5165263430387269	0.51575	0.255577391179	0.28147	0.738223016262	0.72711	T	0.064245	0.32385	T	-0.173068	0.24772	T	-0.486377	0.23771	T	0.930278539657593	0.59488	D	0.746025	0.36642	T	0.20940562	0.43206	0.19931784	0.43807	0.20940562	0.43206	0.19931784	0.43806	-10.325	0.75835	D	.	.	0.264	0.54324	B	.;.	.;.	4.408076	0.68175	25.2	0.99393272231631724	0.62428	0.95932	0.66779	D	AEFDGBHCI	0.692268	0.65199	D	0.23565169934389	0.52934	3.464652	0.283954786271595	0.54601	3.624728	0.999999999999989	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.31	4.31	0.50718	4.719000	0.61629	7.518000	0.59719	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	16.392	0.83380	298	0.88068	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	420.83	39	chr16	70674433	.	C	T	420.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.852;DP=210;ExcessHet=0;FS=1.075;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.79;ReadPosRankSum=1.46;SOR=0.641	GT:AD:DP:GQ:PL	0/1:33,21:54:99:431,0,824	5	0	1	0
chr16	71969982	71969982	G	A	exonic	PKD1L3	.	nonsynonymous SNV	PKD1L3:NM_181536:exon13:c.C2077T:p.R693C	.	.	.	.	.	.	.	.	.	.	.	2396930	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	0.000199681	4.576e-05	0.0005	0	0	0	0	0	0	1.29e-05	2	154602	rs553586556	2.144e-05	2.052e-05	2.256e-05	2.028e-05	0.0002	1.521e-05	1.32e-05	2.515e-05	1.297e-05	9.494e-05	5.602e-05	0	0	0	0.0002	2.039e-05	1.723e-05	1.262e-05	9.852e-05	9.843e-05	5.14e-05	0.0001	0.0003	6.004e-05	4.878e-05	0.0002	0.0002	0.0003	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.012	0.63918	D	1.0	0.90584	D	0.828	0.59497	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	0.38438	.	.	.	.	.	.	.	0.15141922	0.28621	T	.	.	.	.	.	.	.	0.290962096972	0.28708	0.3446700023600799	0.34380	.	.	0.259750157595	0.04861	T	0.190394	0.54492	T	-0.042832	0.45527	T	-0.0626331	0.66149	T	.	.	.	0.622938	0.23989	T	0.20378724	0.42467	0.17523074	0.39974	0.20378724	0.42467	0.17523074	0.39973	-7.349	0.56544	T	.	.	0.139	0.30344	B	.	.	3.024580	0.40491	21.2	0.68637396395911288	0.08720	0.41038	0.26569	N	AEFBI	.	.	.	.	.	.	.	.	.	0.113254022347004	0.16704	0.06567	0.01388	0	0.063388	0.01293	0	0.060301	0.00762	0	0.075334	0.01956	0	0.662797	0.42031	5.29	3.1	0.34780	2.614000	0.46024	0.467000	0.18675	0.676000	0.76740	0.510000	0.27033	0.000000	0.08366	0.167000	0.20881	0.0:0.2362:0.4707:0.2931	6.925	0.23588	87	0.96348	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1586.83	35	chr16	71969982	.	G	A	1586.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.812;DP=352;ExcessHet=0;FS=5.549;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=0.742;SOR=0.374	GT:AD:DP:GQ:PL	0/1:66,63:129:99:1597,0,1637	5	0	1	0
chr16	71978340	71978340	C	G	exonic	PKD1L3	.	nonsynonymous SNV	PKD1L3:NM_181536:exon10:c.G1442C:p.R481T	.	437	1061	21	3	0	27	0.012564	.	.	.	2817746	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0046	0.00139776	0.0046	0.0005	0.0049	0	0.0018	0.0069	0.0041	0.0039	0.001229	190	154602	rs78847227	0.0043	0.0042	0.0043	0.0044	0.0119	0.0042	0.0042	0.0097	0.0088	0.0008	0.0042	0.0085	0	0.0012	0.0119	0.0046	0.0055	0.0035	0.0033	0.0033	0.0035	0.0031	0.0049	0.0030	0.0030	0.0044	0.0043	0.0006	0.0164	0.0042	0.0089	0	0.0009	0.0102	0.0049	0.0048	0.0023	.	.	.	0.06	0.45744	T	0.22	0.30288	B	0.036	0.22909	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.08786	.	.	.	.	.	.	.	0.004127741	0.00081	T	.	.	.	.	.	.	.	0.112648838833	0.10856	0.3126974060576522	0.31182	.	.	0.324828505516	0.14152	T	0.031258	0.21961	T	-0.453462	0.01077	T	-0.420138	0.31060	T	.	.	.	0.464354	0.13557	T	0.063487284	0.13372	0.092124306	0.21695	0.063487284	0.13372	0.092124306	0.21694	-3.568	0.17395	T	.	.	0.126	0.26669	B	.	.	-0.049723	0.03950	0.884	0.59147332785512841	0.06156	0.01292	0.04497	N	AEFDI	.	.	.	.	.	.	.	.	.	3.6990022583737E-4	0.06707	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.058706	0.01089	0	0.0970973	0.21743	4.92	-1.59	0.08003	-0.857000	0.04394	-0.881000	0.07064	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.092000	0.17891	0.0:0.3611:0.1605:0.4784	4.706	0.12228	93	0.96133	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002519	0.000000	0.026786	0.009009	0.083333	0.000000	0.005882	0.000000	0.08333	557.83	35	chr16	71978340	.	C	G	557.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.578;DP=222;ExcessHet=0;FS=1.171;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-1.627;SOR=1.022	GT:AD:DP:GQ:PL	0/1:24,21:45:99:568,0,588	5	0	1	0
chr16	74999927	74999927	C	G	exonic	ZNRF1	.	nonsynonymous SNV	ZNRF1:NM_032268:exon1:c.C256G:p.P86A	.	411	1092	19	0	0	19	0.0086246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	.	0.0007	0.00259585	0.0084	0	0.0041	0	0.0541	0.0043	0.0063	0.0146	0.0018758	290	154602	rs112370673	0.0020	0.0020	0.0018	0.0023	0.0107	0.0020	0.0019	0.0101	0.0098	0.0002	0.0006	0.0013	0	0.0022	0.0060	0.0016	0.0020	0.0107	0.0014	0.0014	0.0012	0.0015	0.0116	0.0012	0.0011	0.0092	0.0083	0.0004	0	0.0008	0.0009	0.0002	0.0019	0.0068	0.0014	0.0014	0.0116	0.013	0.54683	D	0.929	0.13103	T	0.98	0.59353	D	0.811	0.58656	P	0.004346	0.33837	N	0.238952	0.982402	0.39888	D	0.69	0.16971	N	.	.	.	-1.18	0.36787	N	0.311	0.42149	-0.7115	0.59879	T	0.169	0.50939	T	9	0.005193025	0.00113	T	.	.	.	0.112	0.31546	.	.	0.128874641272	0.12493	0.44317445975474395	0.44235	0.618583360851	0.56246	0.680616140366	0.64357	T	0.009138	0.08339	T	-0.294774	0.09162	T	-0.186804	0.55889	T	0.0412968066536565	0.03925	T	0.739826	0.36767	T	0.102306746	0.24172	0.0729915	0.15810	0.102306746	0.24172	0.0729915	0.15809	-2.421	0.05263	T	.	.	0.051	0.01290	B	.;.;.;.	.;.;.;.	3.785883	0.54463	23.5	0.98515267012984697	0.42398	0.88716	0.48777	D	AEFDBHCI	0.631225	0.61228	D	0.284316375642299	0.55352	3.699438	0.391905685816939	0.61063	4.301575	0.999999999999872	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.594344	0.31042	0	0.621717	0.48901	0	.	.	4.82	4.82	0.61641	5.750000	0.68350	7.408000	0.58623	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:1.0:0.0:0.0	17.013	0.86285	827	0.39843	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002559	0.000000	0.000000	0.014706	0.000000	0.000000	0.003106	0.007634	0.08333	451.83	39	chr16	74999927	.	C	G	451.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.75;DP=207;ExcessHet=0;FS=3.256;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=-0.019;SOR=0.223	GT:AD:DP:GQ:PL	0/1:16,16:32:99:462,0,476	5	0	1	0
chr16	81216304	81216304	G	A	exonic	PKD1L2	.	nonsynonymous SNV	PKD1L2:NM_001076780:exon2:c.C404T:p.P135L	.	421	1094	7	0	0	7	0.00318907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00541598830132	7.9e-05	0.000199681	0.0002	0.0002	0.0003	0	0	0.0002	0.0022	0.0002	0.0002005	31	154602	rs201455881	0.0002	0.0002	0.0002	0.0002	0.0057	0.0002	0.0002	0.0042	0.0037	0.0002	0.0003	0	0	0	0.0057	0.0001	0.0004	0.0002	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0001	0.0006	0.0004	4.812e-05	0	0.0009	0	0	0	0.0136	0.0001	0.0009	0.0004	.	.	.	.	.	.	0.763	0.43659	P	0.173	0.35463	B	0.053175	0.22831	N	0.392776	1	0.08975	N	.	.	.	2.22	0.18248	T	-3.1	0.63554	D	0.14	0.13911	-1.0402	0.17253	T	0.034	0.14683	T	9	0.07927653	0.12734	T	0.005416	0.13893	T	0.103	0.29403	.	.	0.254761474806	0.25079	.	.	.	.	0.257906466722	0.04645	T	.	.	.	-0.442061	0.01258	T	-0.576574	0.14852	T	0.063882129109437	0.07765	T	0.613539	0.23382	T	.	.	.	.	.	.	.	.	-4.013	0.23998	T	.	.	0.089	0.12037	B	.	.	1.637224	0.20899	14.96	0.99569736812668719	0.72318	0.78222	0.38560	D	AEFDBI	0.251631	0.37147	N	0.0297013350485243	0.43209	2.618385	0.0474233095663185	0.41946	2.528804	0.900866755316495	0.26086	0.497415	0.19182	0	0.59043	0.45803	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.09	5.09	0.68647	3.002000	0.49184	2.239000	0.31595	0.672000	0.70159	0.993000	0.37899	0.413000	0.24769	0.042000	0.14466	0.0:0.1491:0.8509:0.0	14.223	0.65383	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.008152	0.014620	0.000000	0.008621	0.003049	0.000000	0.08333	1350.83	39	chr16	81216304	.	G	A	1350.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.445;DP=279;ExcessHet=0;FS=1.795;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=-0.361;SOR=1.007	GT:AD:DP:GQ:PL	0/1:39,49:88:99:1361,0,965	5	0	1	0
chr16	84195266	84195266	G	C	exonic	ADAD2	.	nonsynonymous SNV	ADAD2:NM_139174:exon6:c.G950C:p.G317A	.	.	.	.	.	.	.	.	0.8124	0.496	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.0251517162454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.535	0.06913	T	0.0	0.92824	D	0.001	0.07471	B	0.005	0.11217	B	.	.	.	.	1	0.81001	D	.	.	.	2.27	0.17431	T	-1.25	0.31576	N	0.182	0.19728	-0.9702	0.37157	T	0.029	0.12453	T	8	0.06545046	0.08833	T	0.025152	0.48129	D	0.032	0.07718	0.56	0.67958	0.0611884634855	0.05136	0.466566792698256	0.46575	.	.	.	.	.	.	.	.	-0.310728	0.07685	T	-0.684116	0.06736	T	0.0775432912060761	0.09669	T	0.476852	0.14330	T	.	.	.	.	.	.	.	.	-5.118	0.38096	T	.	.	0.147	0.32469	B	.	.	1.194662	0.15865	12.16	0.59252846782644497	0.06181	0.05979	0.11940	N	AEFDBI	0.132534	0.25187	N	-1.04757968470659	0.07635	0.3553451	-1.13367629188423	0.07064	0.342262	0.999959827176862	0.48110	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	4.53	-1.76	0.07574	0.709000	0.25407	0.007000	0.13381	0.671000	0.69459	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.1876:0.3064:0.3493:0.1567	1.565	0.02445	754	0.51307	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	914.83	40	chr16	84195266	.	G	C	914.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.39;DP=240;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.3;ReadPosRankSum=-0.222;SOR=0.818	GT:AD:DP:GQ:PL	0/1:18,32:50:99:925,0,402	5	0	1	0
chr16	84479972	84479972	C	G	exonic	MEAK7	.	nonsynonymous SNV	MEAK7:NM_020947:exon8:c.G1312C:p.E438Q	.	422	1096	4	0	0	4	0.00182149	.	.	.	3285330	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.294	0.0175688754395	0.0003	.	0.0003	0	0.0003	0	0	0.0004	0	0.0002	0.0002458	38	154602	rs146720539	0.0004	0.0004	0.0004	0.0004	0.0056	0.0004	0.0004	0.0041	0.0035	8.998e-05	0.0003	0	0	0	0.0056	0.0004	0.0006	0.0004	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	0.0001	0.0002	0.0001	9.619e-05	0	0.0002	0	0	0	0.0068	0.0002	0	0.0004	0.0	0.91255	D	0.011	0.64786	D	0.98	0.59353	D	0.889	0.63100	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.725	0.79712	M	2.6	0.13204	T	-2.14	0.48523	N	0.75	0.74918	-0.9340	0.43545	T	0.128	0.43544	T	10	0.6302649	0.68476	D	0.017569	0.39321	T	0.294	0.61388	.	.	0.270001397563	0.26616	0.6501162151369393	0.64947	0.00580428059586	0.00509	0.464512676001	0.33928	T	0.034626	0.23397	T	-0.204806	0.20115	T	-0.195707	0.55053	T	0.166412875056267	0.18332	T	0.856914	0.54589	D	0.4889729	0.66441	0.4345525	0.66971	0.4889729	0.66442	0.4345525	0.66971	-7.156	0.55165	T	.	.	0.150	0.33133	B	.	.	3.998649	0.58906	24.0	0.99855813116979286	0.93458	0.99507	0.96863	D	AEFDBI	0.758025	0.69680	D	0.675035616184508	0.77995	6.78356	0.599505843117346	0.74903	6.21724	0.999999999991414	0.74766	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.75	4.75	0.59954	7.028000	0.76204	3.840000	0.40037	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.445000	0.27784	0.0:1.0:0.0:0.0	17.620	0.87981	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002018	0.000000	0.002717	0.005848	0.000000	0.008621	0.000000	0.000000	0.08333	212.83	30	chr16	84479972	.	C	G	212.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.77;DP=189;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.88;ReadPosRankSum=-0.319;SOR=0.602	GT:AD:DP:GQ:PL	0/1:19,8:27:99:223,0,481	5	0	1	0
chr16	89919895	89919895	C	T	exonic	MC1R	.	nonsynonymous SNV	MC1R:NM_002386:exon1:c.C637T:p.R213W	.	0	1518	4	0	0	4	0.00131579	.	.	.	343073	Tyrosinase-positive_oculocutaneous_albinism|Melanoma,_cutaneous_malignant,_susceptibility_to,_5	MONDO:MONDO:0008746,MedGen:C0268495,OMIM:203200,Orphanet:79432|MONDO:MONDO:0013133,MedGen:C2751295,OMIM:613099,Orphanet:618	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.149	0.027755446482	0.0005	0.000798722	0.0003	0.0004	0.0002	0	0	0.0005	0.0011	0.0002	0.0003299	51	154602	rs200000734	0.0004	0.0004	0.0005	0.0004	0.0008	0.0004	0.0004	0.0006	0.0005	0.0008	0.0004	3.831e-05	0	2.128e-05	0.0005	0.0005	0.0005	0.0001	0.0007	0.0007	0.0008	0.0006	0.0009	0.0006	0.0005	0.0007	0.0006	0.0009	0.0154	0.0008	0	0	9.414e-05	0.0068	0.0006	0.0005	0	0.004	0.91255	D	0.01	0.83351	D	0.019	0.17989	B	0.047	0.24832	B	0.295046	0.14699	U	0.498399	0.824017	0.28846	N	2.87	0.83286	M	1.15	0.38236	T	-1.34	0.33401	N	0.444	0.48227	-0.9495	0.41058	T	0.119	0.41713	T	9	0.018007338	0.00388	T	0.027755	0.50530	D	0.149	0.39377	.	.	0.724249103782	0.72181	0.6477777833167938	0.64712	0.0187430441396	0.01823	.	.	.	0.321102	0.69223	T	-0.31512	0.07305	T	-0.331843	0.41263	T	0.0730260696132213	0.09069	T	0.805419	0.45479	T	0.20714551	0.42911	0.24822746	0.50369	0.20714551	0.42911	0.24822746	0.50368	-7.883	0.60270	D	0.6428663167216301	0.71384	0.149	0.32969	B	.;.;.;.	.;.;.;.	3.296614	0.45235	22.1	0.99691304329774044	0.79977	0.78157	0.38519	D	AEFDBHCI	0.691242	0.65131	D	-0.426581096316887	0.24541	1.325827	-0.416952840947091	0.24500	1.34191	0.999999999979111	0.74766	0.764865	0.99124	0	0.610034	0.51514	0	0.731555	0.93304	0	0.664235	0.64389	0	.	.	4.67	2.65	0.30588	1.290000	0.32925	2.547000	0.33245	-0.236000	0.07595	0.974000	0.34632	0.874000	0.27626	0.000000	0.00833	0.2996:0.7004:0.0:0.0	12.654	0.56142	616	0.66398	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1075.83	38	chr16	89919895	.	C	T	1075.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.71;DP=272;ExcessHet=0;FS=3.312;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.82;ReadPosRankSum=-1.104;SOR=1.015	GT:AD:DP:GQ:PL	0/1:34,34:68:99:1086,0,922	5	0	1	0
chr17	4898816	4898816	C	G	exonic	CHRNE	.	nonsynonymous SNV	CHRNE:NM_000080:exon12:c.G1402C:p.V468L	Myasthenic syndrome, congenital, 4A, slow-channel, Autosomal recessive, Autosomal dominant;Myasthenic syndrome, congenital, 4B, fast-channel, Autosomal recessive;Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, Autosomal recessive	0	1438	80	4	0	88	0.0296896	.	.	.	134213	Congenital_myasthenic_syndrome_4B|Congenital_myasthenic_syndrome_4A|Congenital_myasthenic_syndrome_4C|Congenital_myasthenic_syndrome|not_specified|not_provided	MONDO:MONDO:0014586,MedGen:C4225369,OMIM:616324,Orphanet:590|MONDO:MONDO:0011600,MedGen:C4225413,OMIM:605809,Orphanet:590|MONDO:MONDO:0012157,MedGen:C1837091,OMIM:608931,Orphanet:590|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.193	.	0.0049	0.00658946	0.0116	0.0024	0.0058	0	0.0009	0.0122	0.0085	0.0239	0.0070956	1097	154602	rs139171143	0.0082	0.0082	0.0077	0.0087	0.0202	0.0081	0.0080	0.0194	0.0191	0.0010	0.0042	0.0137	0	0.0009	0.0144	0.0081	0.0089	0.0202	0.0056	0.0056	0.0052	0.0059	0.0168	0.0053	0.0051	0.0138	0.0128	0.0011	0	0.0075	0.0147	0.0002	0.0006	0.0102	0.0078	0.0066	0.0168	0.439	0.09291	T	0.781	0.04316	T	0.006	0.13644	B	0.012	0.16012	B	0.124231	0.18888	N	0.544079	1	0.08975	N	-1.03	0.01126	N	-1.78	0.83737	D	0.04	0.06488	N	0.026	0.00527	-0.9563	0.39861	T	0.170	0.51149	T	10	0.0081155	0.00184	T	.	.	.	0.193	0.47281	0.524	0.62818	0.73970075848	0.73736	0.5108977494356424	0.51011	0.173132123751	0.19504	0.436431020498	0.30089	T	0.123991	0.44873	T	-0.44225	0.01254	T	-0.392443	0.34266	T	0.00471746528373489	0.00050	T	0.568443	0.20183	T	0.0839231	0.19401	0.05937821	0.11132	0.09259061	0.21725	0.05937821	0.11131	-4.574	0.31843	T	0.07255126532831871	0.02984	0.082	0.08705	B	.;.	.;.	1.464950	0.18879	13.97	0.944513145183004	0.24882	0.11588	0.16732	N	AEFDGBCI	0.135937	0.25643	N	-0.833096516067367	0.12471	0.6080328	-0.71362750297996	0.16621	0.8801673	0.999998109444355	0.74766	0.660377	0.49826	0	0.759151	0.99529	0	0.536957	0.11973	0	0.592323	0.36904	0	.	.	4.91	0.885	0.18323	-0.492000	0.06547	-0.945000	0.06834	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.2577:0.3665:0.3758:0.0	7.891	0.28840	296	0.88164	Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.016633	0.000000	0.010899	0.008824	0.000000	0.000000	0.027439	0.045455	0.08333	1519.83	35	chr17	4898816	.	C	G	1519.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.54;DP=284;ExcessHet=0;FS=3.551;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=0.504;SOR=0.891	GT:AD:DP:GQ:PL	0/1:48,59:107:99:1530,0,1148	5	0	1	0
chr17	8048554	8048554	G	A	exonic	ALOX15B	.	nonsynonymous SNV	ALOX15B:NM_001039131:exon12:c.G1798A:p.V600I,ALOX15B:NM_001039130:exon13:c.G1933A:p.V645I,ALOX15B:NM_001141:exon14:c.G2020A:p.V674I	.	.	.	.	.	.	.	.	.	.	.	3271980	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.182	0.0194848919163	.	0.000199681	0.0001	0	0	0	0	0.0002	0	6.298e-05	0.0001164	18	154602	rs201702180	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0002	0	0	0.0002	0	0	0.0002	0.0002	0.0002	6.96e-05	5.256e-05	5.25e-05	6.428e-05	4.031e-05	0.0001	2.557e-05	1.83e-05	5.845e-05	4.241e-05	0	0	0	0	0	0	0	0.0001	0	0	0.334	0.13219	T	0.457	0.12704	T	0.143	0.33423	B	0.046	0.30674	B	0.000282	0.46274	N	0.187532	0.870047	0.81001	D	0.83	0.20963	L	-2.34	0.87989	D	-0.41	0.14000	N	0.078	0.17416	-0.5286	0.67594	T	0.336	0.70256	T	10	0.05000058	0.04670	T	0.019485	0.41866	T	0.182	0.45420	.	.	0.773536180922	0.77145	0.39884380598011576	0.39799	0.125987352344	0.14203	0.270342648029	0.06185	T	0.004126	0.09021	T	-0.26856	0.11918	T	-0.317568	0.42841	T	0.0577884595430362	0.06816	T	0.726827	0.38847	T	0.057191547	0.11350	0.042363767	0.05027	0.057191547	0.11349	0.042363767	0.05027	-4.31	0.28316	T	.	.	0.082	0.08899	B	.;.;.;.	.;.;.;.	-0.058740	0.03895	0.853	0.9499716651516158	0.25954	0.17538	0.19880	N	AEFDBI	0.127105	0.24434	N	-0.642931811258218	0.17667	0.9110203	-0.573357462723212	0.20189	1.08659	0.221434206630003	0.18359	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	3.76	1.75	0.23707	-0.090000	0.11129	0.438000	0.18395	0.676000	0.76740	0.001000	0.13787	0.019000	0.20708	0.229000	0.22707	0.2003:0.0:0.7997:0.0	9.257	0.36749	367	0.84523	Lipoxygenase, C-terminal;Lipoxygenase, C-terminal;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	882.83	42	chr17	8048554	.	G	A	882.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.603;DP=330;ExcessHet=0;FS=3.17;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=1.35;SOR=0.393	GT:AD:DP:GQ:PL	0/1:36,40:76:99:893,0,1311	5	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	0.08333	1094.83	37	chr17	10303286	.	C	G	1094.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.701;DP=302;ExcessHet=0;FS=1.552;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=-0.798;SOR=0.512	GT:AD:DP:GQ:PL	0/1:58,50:108:99:1105,0,1593	5	0	1	0
chr17	11854048	11854048	G	A	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon50:c.G9553A:p.V3185I	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.423	0.0491460873035	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs533596673	6.841e-07	6.84e-07	1.361e-06	0	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.065	0.38633	T	.	.	.	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.135	0.59519	M	-1.24	0.78967	T	-0.94	0.25118	N	0.731	0.73645	0.225	0.86330	D	0.659	0.88152	D	10	0.8183477	0.81056	D	0.049146	0.63685	D	0.423	0.73152	0.422	0.46529	0.918259066885	0.91743	0.5025455206364047	0.50176	0.39136295111	0.40338	0.469020903111	0.34546	T	0.174928	0.52432	T	0.078481	0.61862	D	-0.125044	0.61385	T	0.967736840248108	0.68007	D	0.989851	0.96764	D	0.1585204	0.35659	0.15913677	0.37128	0.1585204	0.35659	0.15913677	0.37127	-7.564	0.58059	D	.	.	0.206	0.43200	B	.;.	.;.	4.613988	0.73203	26.0	0.99845611603358553	0.92576	0.98998	0.89743	D	AEFBIJ	0.876831	0.80108	D	0.866586210313776	0.90032	10.22292	0.819863212793549	0.91139	10.73786	0.999999998004377	0.74766	0.616025	0.39624	0	0.573888	0.26702	0	0.574621	0.27300	0	0.564101	0.26826	0	.	.	5.49	5.49	0.81022	9.602000	0.97623	11.570000	0.93280	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.754000	0.35928	0.0:0.0:1.0:0.0	19.572	0.95419	692	0.58729	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2176.83	38	chr17	11854048	.	G	A	2176.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.309;DP=352;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=1.42;SOR=0.709	GT:AD:DP:GQ:PL	0/1:83,88:171:99:2187,0,2023	5	0	1	0
chr17	15553742	15553742	-	AAGCT	exonic	TVP23C;TVP23C-CDRT4	.	frameshift insertion	TVP23C:NM_001135036:exon3:c.182_183insAGCTT:p.F61Lfs*21,TVP23C-CDRT4:NM_001204478:exon3:c.182_183insAGCTT:p.F61Lfs*21,TVP23C:NM_145301:exon3:c.182_183insAGCTT:p.F61Lfs*21	.	443	1076	3	0	0	3	0.00139211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0.0003	0.0008	7.492e-05	0	0.0001	3.84e-05	1	26028	rs201021525	0.0001	0.0001	0.0001	0.0001	0.0010	0.0001	0.0001	0.0007	0.0007	0	0	0	0.0010	0.0008	0	7.015e-05	0.0002	0.0001	0.0002	0.0002	0.0002	0.0003	0.0017	0.0001	0.0001	0.0009	0.0007	0	0	0	0	0.0017	0.0009	0	0.0001	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1337.79	37	chr17	15553742	.	A	AAAGCT	1337.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.39;DP=291;ExcessHet=0;FS=1.701;MLEAC=1;MLEAF=0.083;MQ=59.99;MQRankSum=-1.336;QD=12.74;ReadPosRankSum=1.5;SOR=0.954	GT:AD:DP:GQ:PL	0/1:68,37:105:99:1348,0,2744	5	0	1	0
chr17	17167499	17167499	C	T	exonic	MPRIP	.	nonsynonymous SNV	MPRIP:NM_001364716:exon16:c.C5908T:p.R1970C	.	423	1098	0	1	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.355	.	.	0.00279553	0.0009	0.0112	0	0	0	0.0004	0.0065	0	0.0002523	39	154602	rs138734388	0.0004	0.0003	0.0004	0.0004	0.0070	0.0003	0.0003	0.0061	0.0058	0.0070	0.0011	0	0	0	0.0034	0.0002	0.0007	1.312e-05	0.0017	0.0017	0.0017	0.0017	0.0053	0.0015	0.0014	0.0047	0.0045	0.0053	0	0.0011	0	0	0	0.0068	0.0001	0.0028	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	.	.	.	.	.	.	.	.	0.08333	1486.83	36	chr17	17167499	.	C	T	1486.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.29;DP=292;ExcessHet=0;FS=0.777;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.33;ReadPosRankSum=-0.643;SOR=0.822	GT:AD:DP:GQ:PL	0/1:43,54:97:99:1497,0,1007	5	0	1	0
chr17	18138127	18138127	C	T	exonic	MYO15A	.	nonsynonymous SNV	MYO15A:NM_016239:exon16:c.C4888T:p.R1630C	Deafness, autosomal recessive 3, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	272122	not_provided|Childhood_onset_hearing_loss|Autosomal_recessive_nonsyndromic_hearing_loss_3|not_specified	MedGen:C3661900|.|MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.620	.	0.0023	0.00359425	0.0008	0.0083	0.0003	0	0	0.0001	0.0022	0	0.0008473	131	154602	rs138861831	0.0004	0.0004	0.0004	0.0004	0.0101	0.0004	0.0004	0.0092	0.0089	0.0101	0.0006	0	0	0	0.0029	0.0002	0.0009	0	0.0026	0.0026	0.0028	0.0024	0.0089	0.0024	0.0023	0.0082	0.0079	0.0089	0	0.0007	0	0	0	0.0068	0.0002	0.0014	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	3.82	0.95555	H	-2.47	0.88997	D	-6.98	0.93582	D	0.558	0.63035	0.695	0.93114	D	0.786	0.92740	D	9	0.011051863	0.00243	T	.	.	.	0.620	0.85249	.	.	0.909497451058	0.90859	0.42941685205003743	0.42858	.	.	0.568389952183	0.48449	T	0.267439	0.97209	T	-0.126339	0.32091	T	0.0524274	0.73743	D	0.122083781124207	0.14632	T	0.976102	0.91674	D	0.8456483	0.87016	0.80183405	0.88385	0.8423644	0.86779	0.82665604	0.89968	-7.532	0.57835	D	0.6327317834138518	0.70235	0.151	0.33435	B	.;.;.	.;.;.	5.010012	0.83197	28.0	0.99680601399206259	0.79241	0.94927	0.62815	D	AEFBI	0.627005	0.60962	D	0.77418596279507	0.84469	8.296174	0.655713987150523	0.79038	6.998433	0.999693112610274	0.41870	0.516011	0.20929	0	0.59043	0.45803	0	0.657636	0.52715	0	0.586402	0.36253	0	.	.	5.47	5.47	0.80345	1.781000	0.38274	4.837000	0.45250	0.599000	0.40250	0.883000	0.31049	1.000000	0.68203	0.994000	0.71098	0.1371:0.8628:0.0:0.0	15.708	0.77358	212	0.91760	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class XV myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class XV myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class XV myosin, motor 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	0.002014	0.000000	0.006793	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	832.83	30	chr17	18138127	.	C	T	832.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.29;DP=205;ExcessHet=0;FS=1.303;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.72;ReadPosRankSum=-2.935;SOR=1.17	GT:AD:DP:GQ:PL	0/1:17,30:47:99:843,0,389	5	0	1	0
chr17	18381623	18381623	G	A	exonic	EVPLL	.	nonsynonymous SNV	EVPLL:NM_001145127:exon4:c.G239A:p.R80Q	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	.	0.0085	0.00199681	0.0016	0.0168	0.0006	0	0	0.0002	0.0022	0	0.0014424	223	154602	rs201966669	0.0007	0.0007	0.0008	0.0006	0.0190	0.0007	0.0006	0.0178	0.0173	0.0190	0.0010	0	0	5.619e-05	0.0021	0.0002	0.0015	2.319e-05	0.0055	0.0055	0.0058	0.0052	0.0193	0.0052	0.0051	0.0182	0.0177	0.0193	0	0.0012	0	0	9.414e-05	0.0068	0.0002	0.0028	0	0.0	0.91255	D	0.097	0.39190	T	0.999	0.77913	D	0.96	0.70309	D	.	.	.	.	0.749831	0.29649	N	1.815	0.47718	L	2.19	0.18724	T	-3.81	0.71882	D	0.253	0.28616	-1.0607	0.11582	T	0.028	0.11971	T	8	0.0061182976	0.00138	T	.	.	.	0.147	0.38986	.	.	0.258779203287	0.25495	0.48705597124035127	0.48625	0.454068681567	0.45095	.	.	.	0.062516	0.31937	T	-0.495745	0.00604	T	-0.468624	0.25664	T	0.0704597657856039	0.08715	T	.	.	.	0.2519323	0.48205	0.346878	0.60350	0.2519323	0.48205	0.346878	0.60349	-4.444	0.30149	T	.	.	0.112	0.21803	B	.	.	3.951838	0.57900	23.9	0.99794690856142099	0.88017	0.70534	0.34630	D	AEFDBI	0.379889	0.46274	N	-0.0278677665544264	0.40596	2.413582	-0.214852655494757	0.31003	1.750564	0.0176355098133766	0.12972	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	.	.	.	5.695000	0.67940	8.418000	0.77142	0.174000	0.17776	1.000000	0.71638	1.000000	0.68203	0.629000	0.32131	2.0E-4:0.0:0.9998:0.0	6.516	0.21447	641	0.64016	.	.	.	.	.	.	Likely benign	0	0	0	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	0.003021	0.000000	0.005435	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1419.83	33	chr17	18381623	.	G	A	1419.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.966;DP=298;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.94;MQRankSum=0.924;QD=11.45;ReadPosRankSum=-0.781;SOR=0.742	GT:AD:DP:GQ:PL	0/1:68,56:124:99:1430,0,1719	5	0	1	0
chr17	18735446	18735446	G	A	exonic	TRIM16L	.	nonsynonymous SNV	TRIM16L:NM_001037330:exon5:c.G1033A:p.G345R,TRIM16L:NM_001353224:exon6:c.G1033A:p.G345R,TRIM16L:NM_001353221:exon8:c.G1339A:p.G447R,TRIM16L:NM_001353219:exon9:c.G1195A:p.G399R,TRIM16L:NM_001353222:exon10:c.G1033A:p.G345R,TRIM16L:NM_001353220:exon11:c.G1033A:p.G345R,TRIM16L:NM_001353223:exon11:c.G1033A:p.G345R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.0113587274351	.	.	1.012e-05	0	0	0	0	1.807e-05	0	0	3.84e-05	1	26028	rs776311111	2.743e-06	2.736e-06	5.456e-06	0	8.984e-05	6.4e-07	4.3e-07	2.381e-05	1.26e-05	8.984e-05	0	0	0	0	0	0	1.661e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.30515	T	0.116	0.36497	T	0.005	0.12996	B	0.005	0.11217	B	0.160461	0.17680	U	0.214397	1	0.08975	N	0	0.06538	N	-0.21	0.66294	T	-0.68	0.19509	N	0.113	0.10056	-0.9960	0.31028	T	0.121	0.42187	T	10	0.07701135	0.12103	T	0.011359	0.28906	T	0.039	0.10176	0.173	0.07894	0.180583059064	0.17676	0.16126680076532798	0.16047	.	.	0.506324052811	0.39708	T	0.006901	0.06325	T	-0.332891	0.05895	T	-0.531936	0.19094	T	0.0232098615908706	0.01049	T	0.385361	0.09439	T	0.06285279	0.13171	0.05797879	0.10636	0.06285279	0.13171	0.05797879	0.10635	-3.938	0.22873	T	.	.	0.144	0.31708	B	.	.	0.594231	0.09625	6.400	0.78020063978242638	0.12121	0.05743	0.11670	N	AEFBI	.	.	.	-1.11665818022938	0.06346	0.2918938	-1.13740884128039	0.06996	0.3387042	1.26363685557265E-5	0.02871	0.693126	0.56070	0	0.071	0.01855	3	0.659464	0.59346	0	0.655142	0.61905	0	.	.	3.35	1.15	0.19876	0.639000	0.24378	2.188000	0.31185	0.318000	0.19305	0.000000	0.06391	0.629000	0.25856	0.012000	0.09680	0.0:0.446:0.554:0.0	9.014	0.35324	783	0.47268	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	2624.83	45	chr17	18735446	.	G	A	2624.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.035;DP=451;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=43.06;MQRankSum=-2.152;QD=12.1;ReadPosRankSum=-0.405;SOR=0.714	GT:AD:DP:GQ:PL	0/1:113,104:217:99:2635,0,2894	5	0	1	0
chr17	19799509	19799509	C	T	exonic	ULK2	.	nonsynonymous SNV	ULK2:NM_001142610:exon17:c.G1508A:p.S503N,ULK2:NM_014683:exon17:c.G1508A:p.S503N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.011469952623	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1329548207	6.966e-07	2.736e-06	1.386e-06	0	9.069e-07	0	0	.	.	0	0	0	0	0	0	9.069e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.30235	T	0.369	0.16522	T	0.181	0.29111	B	0.036	0.22909	B	0.000000	0.84330	D	0.081517	0.998887	0.45620	D	1.1	0.28011	L	1.26	0.36330	T	-0.78	0.21644	N	0.305	0.35938	-1.0505	0.14258	T	0.095	0.35871	T	10	0.15645507	0.29466	T	0.01147	0.29127	T	0.106	0.30130	0.138	0.04187	0.556025216835	0.55262	0.30641304956445936	0.30554	0.181457915209	0.20398	0.474775105715	0.35339	T	0.112937	0.42960	T	-0.247002	0.14468	T	-0.592578	0.13443	T	0.529470980167389	0.33714	D	0.824917	0.48720	T	0.2822883	0.51267	0.23925479	0.49270	0.2822883	0.51267	0.23925479	0.49269	-4.989	0.36720	T	0.1206689685605317	0.11372	0.086	0.13032	B	.;.	.;.	3.243235	0.44281	21.9	0.97455512053453541	0.34053	0.96428	0.69091	D	AEFBI	0.592048	0.58790	D	0.015696462005152	0.42568	2.567369	0.160224985984403	0.47686	2.99514	0.999986015014741	0.51787	0.651	0.46895	0	0.588015	0.36545	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.8	4.83	0.61880	4.409000	0.59524	3.273000	0.37174	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.8668:0.1332:0.0	16.152	0.81438	693	0.58582	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	453.83	33	chr17	19799509	.	C	T	453.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.162;DP=228;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.08;ReadPosRankSum=1.07;SOR=0.632	GT:AD:DP:GQ:PL	0/1:29,21:50:99:464,0,699	5	0	1	0
chr17	20458199	20458199	T	C	exonic	LGALS9B	.	nonsynonymous SNV	LGALS9B:NM_001042685:exon3:c.A317G:p.Q106R,LGALS9B:NM_001367292:exon3:c.A317G:p.Q106R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	.	0.0036	0.00359425	0.0018	0.0138	0.0015	0	0	0.0001	0.0036	0	0.0008452	22	26028	rs372686364	0.0004	0.0004	0.0004	0.0003	0.0120	0.0003	0.0003	0.0111	0.0107	0.0120	0.0008	0	0	0	0.0010	2.249e-05	0.0010	1.161e-05	0.0031	0.0032	0.0030	0.0031	0.0105	0.0028	0.0027	0.0097	0.0094	0.0105	0	0.0013	0	0	0	0	2.96e-05	0.0029	0	0.061	0.37118	T	0.507	0.13713	T	0.942	0.52977	P	0.745	0.55870	P	0.519065	0.11762	N	0.791977	0.99982	0.20203	N	2.495	0.72670	M	3.44	0.05375	T	-2.96	0.61722	D	0.359	0.40063	-1.0294	0.20649	T	0.021	0.08824	T	10	0.004733801	0.00100	T	.	.	.	0.089	0.25827	.	.	0.0297737177859	0.01360	0.09178540442760241	0.09111	.	.	0.44190710783	0.30837	T	0.009251	0.08431	T	-0.523532	0.00420	T	-0.513763	0.20929	T	0.0402443480238372	0.03734	T	0.816718	0.47282	T	0.20141828	0.42152	0.2049842	0.44648	0.20141828	0.42152	0.2049842	0.44647	-9.0	0.68587	D	.	.	0.123	0.28693	B	.;.	.;.	3.254637	0.44482	21.9	0.9241397802491782	0.21829	0.64774	0.32517	D	AEFGI	0.183385	0.31071	N	0.00738207646307748	0.42191	2.537446	-0.0958846654302477	0.35559	2.058756	8.07439376965023E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	1.92	1.92	0.24912	1.531000	0.35624	0.814000	0.21781	0.450000	0.21304	0.005000	0.17040	0.000000	0.08366	0.927000	0.46353	0.0:0.0:0.3181:0.6819	4.961	0.13414	819	0.41190	Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001674	0.012048	0.000000	0.004167	0.000000	0.000000	0.000000	0.000000	0.08333	1048.83	33	chr17	20458199	.	T	C	1048.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.247;DP=268;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=39.25;MQRankSum=-0.638;QD=11.4;ReadPosRankSum=0.23;SOR=0.693	GT:AD:DP:GQ:PL	0/1:46,46:92:99:1059,0,1073	5	0	1	0
chr17	21416279	21416279	C	T	exonic	KCNJ12	.	nonsynonymous SNV	KCNJ12:NM_021012:exon3:c.C937T:p.R313C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.942	0.555151215336	7.7e-05	.	0.0005	0.0055	8.64e-05	0	0	1.499e-05	0	6.057e-05	0.0004463	69	154602	rs142223673	2.271e-05	0.0004	2.325e-05	2.216e-05	0.0007	1.62e-05	1.425e-05	0.0005	0.0004	0.0007	4.554e-05	0	2.532e-05	0	0.0004	1.806e-06	6.668e-05	0	0.0035	0.0064	0.0035	0.0035	0.0121	0.0032	0.0031	0.0113	0.0109	0.0121	0	0.0017	0	0	0	0	5.879e-05	0.0019	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.55	0.99125	H	-3.57	0.94904	D	-7.56	0.95216	D	0.951	0.95956	1.070	0.98577	D	0.939	0.98006	D	10	0.31487632	0.48924	T	0.555151	0.95916	D	0.942	0.98780	.	.	0.787664516009	0.78569	0.8461667623248624	0.84577	0.53005267504	0.50556	0.853299856186	0.90111	D	0.682032	0.90673	D	0.508921	0.94551	D	0.493254	0.94471	D	0.999583780765533	0.98022	D	0.996534	0.98758	D	0.8314012	0.86000	0.6497574	0.79511	0.8314012	0.86002	0.6497574	0.79512	-11.962	0.84666	D	.	.	0.986	0.92685	P	.;.	.;.	5.634610	0.92701	32	0.99931333158500601	0.99387	0.92705	0.56344	D	AEFDGBI	0.723337	0.67298	D	0.778187742814742	0.84725	8.368358	0.64828242852449	0.78483	6.885356	0.999994931666027	0.74766	0.580535	0.33130	0	0.578056	0.33634	0	0.603688	0.36954	0	0.604944	0.38103	0	.	.	5.44	3.31	0.37025	3.921000	0.56166	4.189000	0.42390	0.598000	0.34611	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1544:0.7378:0.1078:0.0	12.735	0.56591	856	0.34373	.;.	.	.	.	.	.	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	0.002518	0.005051	0.005435	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	448.83	211	chr17	21416279	.	C	T	448.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=5.99;DP=1171;ExcessHet=0;FS=3.676;MLEAC=1;MLEAF=0.083;MQ=32.04;MQRankSum=-2.309;QD=2.29;ReadPosRankSum=2.08;SOR=0.388	GT:AD:DP:GQ:PL	0/1:164,32:196:99:459,0,4632	5	0	1	0
chr17	29631107	29631107	T	G	exonic	SSH2	.	nonsynonymous SNV	SSH2:NM_033389:exon15:c.A4006C:p.S1336R,SSH2:NM_001282129:exon16:c.A4087C:p.S1363R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.0554642873796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.004	0.74150	D	0.993	0.68779	D	0.84	0.65830	P	0.002930	0.35704	N	0.323657	0.999993	0.58761	D	2.615	0.76484	M	-0.44	0.69777	T	-1.6	0.38540	N	0.234	0.44379	-0.0972	0.80162	T	0.450	0.78479	T	10	0.29223174	0.46800	T	0.055464	0.66244	D	0.264	0.57741	0.217	0.13788	0.611543997595	0.60841	0.5910832469223872	0.59038	0.486683330562	0.47520	0.609823822975	0.54291	T	0.099158	0.40370	T	0.171906	0.71299	D	0.00915459	0.70927	D	0.894837260246277	0.54629	D	0.90061	0.65471	D	0.311439	0.53911	0.43907362	0.67271	0.311439	0.53911	0.43907362	0.67272	-3.646	0.18524	T	.	.	0.838	0.83008	P	.;.;.	.;.;.	4.236966	0.64207	24.7	0.99842120041822624	0.92229	0.96903	0.71570	D	AEFBI	0.448698	0.50382	N	0.659498098672269	0.76986	6.588342	0.669306725804661	0.80053	7.214729	0.999999980403931	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.616094	0.41390	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	2.264000	0.42959	7.938000	0.75364	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	16.822	0.85699	83	0.96533	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	927.83	35	chr17	29631107	.	T	G	927.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.891;DP=265;ExcessHet=0;FS=1.726;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=2.04;SOR=0.514	GT:AD:DP:GQ:PL	0/1:50,40:90:99:938,0,1418	5	0	1	0
chr17	30899330	30899330	T	A	exonic	TEFM	.	nonsynonymous SNV	TEFM:NM_024683:exon4:c.A922T:p.I308L	.	428	1091	1	2	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	.	0.0088	0.00798722	0.0024	0.0282	0.0013	0	0	5.994e-05	0	0	0.0023092	357	154602	rs61743157	0.0008	0.0008	0.0010	0.0007	0.0300	0.0008	0.0008	0.0285	0.0279	0.0300	0.0015	0	0	0	0.0005	2.158e-05	0.0016	5.797e-05	0.0079	0.0079	0.0083	0.0074	0.0275	0.0075	0.0074	0.0262	0.0257	0.0275	0	0.0023	0	0	0	0	8.819e-05	0.0085	0	.	.	.	0.093	0.39799	T	0.0	0.02946	B	0.0	0.01387	B	0.001278	0.39594	N	0.248901	1	0.28140	N	0	0.06538	N	1.12	0.38718	T	.	.	.	0.098	0.07949	-1.0619	0.11288	T	0.018	0.07706	T	9	0.003047824	0.00050	T	.	.	.	.	.	0.372	0.38340	0.117506650769	0.11410	0.27253461094748216	0.27166	0.178367345857	0.20065	0.34490865469	0.17169	T	0.020615	0.16203	T	-0.672362	0.00053	T	-0.716265	0.04978	T	0.00830233260184563	0.00100	T	0.329367	0.06881	T	0.19347934	0.41059	0.13768111	0.32902	0.19347934	0.41059	0.13768111	0.32901	-2.15	0.03805	T	.	.	0.102	0.17869	B	.	.	2.233335	0.28512	17.82	0.94973799526230607	0.25904	0.30892	0.24198	N	AEFBI	0.115283	0.22673	N	-0.837627265800278	0.12357	0.6017985	-0.729443066963584	0.16230	0.8575447	0.0103761512017379	0.12014	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	6.06	1.57	0.22490	1.342000	0.33524	1.366000	0.25918	-0.226000	0.07819	0.052000	0.21487	0.002000	0.18203	0.855000	0.40485	0.0:0.6347:0.2301:0.1352	8.989	0.35169	861	0.33516	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001512	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	973.83	33	chr17	30899330	.	T	A	973.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.397;DP=252;ExcessHet=0;FS=4.391;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=1.83;SOR=0.338	GT:AD:DP:GQ:PL	0/1:39,40:79:99:984,0,987	5	0	1	0
chr17	35779074	35779074	C	T	exonic	MMP28	.	nonsynonymous SNV	MMP28:NM_001032278:exon3:c.G193A:p.A65T,MMP28:NM_024302:exon3:c.G193A:p.A65T,MMP28:NM_032950:exon3:c.G193A:p.A65T	.	429	1089	1	0	3	4	0.000458926	0.9825	0.822	.	2343847	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.059	0.0127794515546	0.0004	.	0.0005	0.0003	0.0006	0	0	0.0007	0	0	0.000401	62	154602	rs201925301	0.0003	0.0003	0.0003	0.0003	0.0009	0.0003	0.0003	0.0003	0.0002	0	0.0003	0.0075	0	0	0.0009	0.0002	0.0005	2.32e-05	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	9.047e-05	7.012e-05	4.811e-05	0	6.539e-05	0.0066	0	0	0	0.0002	0.0014	0	.	.	.	0.041	0.55759	D	0.049	0.28234	B	0.034	0.27757	B	0.000836	0.41547	D	0.270879	0.635362	0.32827	D	.	.	.	1.14	0.38397	T	.	.	.	0.152	0.17828	-1.0002	0.29860	T	0.074	0.29865	T	9	0.012360156	0.00266	T	0.012779	0.31649	T	.	.	.	.	0.669146814614	0.66635	0.40090114344479616	0.40005	.	.	0.338065803051	0.16147	T	0.047156	0.27640	T	-0.466354	0.00896	T	-0.591505	0.13536	T	0.0484751686453819	0.05228	T	.	.	.	0.08459613	0.19588	0.22892888	0.47949	0.08459613	0.19587	0.22892888	0.47948	-5.35	0.40435	T	.	.	0.073	0.16582	B	.;.;.;.	.;.;.;.	3.269566	0.44751	22.0	0.99746750460349343	0.83927	0.95193	0.63781	D	AEFDGBIJ	0.418471	0.48609	N	0.42533946966124	0.62819	4.504301	0.442762139895241	0.64252	4.67633	0.999999999999905	0.74766	0.549168	0.22868	0	0.563428	0.19063	0	0.573078	0.19857	0	0.616125	0.45549	0	.	.	5.3	5.3	0.74745	3.451000	0.52727	3.244000	0.36984	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.517000	0.29406	0.0:1.0:0.0:0.0	17.970	0.89029	428	0.80967	Peptidoglycan binding-like;Peptidoglycan binding-like;Peptidoglycan binding-like|Peptidase, metallopeptidase;.	.	.	.	.	.	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	0.002014	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	880.83	35	chr17	35779074	.	C	T	880.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.839;DP=233;ExcessHet=0;FS=8.648;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.27;ReadPosRankSum=0.287;SOR=0.153	GT:AD:DP:GQ:PL	0/1:21,30:51:99:891,0,657	5	0	1	0
chr17	36943072	36943072	G	T	exonic	LHX1	.	nonsynonymous SNV	LHX1:NM_005568:exon5:c.G1162T:p.A388S	.	424	1046	51	1	0	53	0.0247086	.	.	.	3220315	LHX1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.231	.	0.0050	0.00419329	0.0083	0.0012	0.0034	0	0.0009	0.0088	0.0102	0.0205	0.0072638	1123	154602	rs145694637	0.0077	0.0077	0.0072	0.0082	0.0196	0.0076	0.0075	0.0185	0.0182	0.0013	0.0037	0.0172	5.052e-05	0.0017	0.0196	0.0074	0.0085	0.0193	0.0059	0.0059	0.0060	0.0057	0.0151	0.0055	0.0054	0.0123	0.0113	0.0015	0.0253	0.0058	0.0207	0	0.0017	0.0136	0.0079	0.0076	0.0151	.	.	.	0.409	0.14588	T	0.001	0.07471	B	0.002	0.06944	B	0.005395	0.32840	N	0.126788	0.987268	0.40562	D	-0.345	0.03330	N	.	.	.	.	.	.	0.282	0.31925	-0.7051	0.60193	T	0.271	0.64245	T	10	0.0046339035	0.00097	T	.	.	.	.	.	.	.	0.326616659874	0.32268	0.29329692418712267	0.29242	.	.	0.500427007675	0.38888	T	0.16499	0.51066	T	-0.456119	0.01039	T	-0.413023	0.31877	T	0.00293281693561552	0.00031	T	.	.	.	0.037977275	0.04970	0.12609625	0.30374	0.037977275	0.04970	0.12609625	0.30373	-2.713	0.07413	T	.	.	0.067	0.02399	B	.	.	2.377238	0.30511	18.46	0.91691799860359935	0.20984	0.98331	0.81705	D	AEFDBHCI	0.646313	0.62190	D	-0.837251310872801	0.12366	0.6023255	-0.655536489895803	0.18077	0.9640994	0.999973125585128	0.50053	0.59774	0.34471	0	0.563428	0.19063	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.73	2.64	0.30504	4.827000	0.62413	3.992000	0.40997	-0.244000	0.07312	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.1677:0.0:0.8323:0.0	10.425	0.43557	567	0.70732	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.019657	0.005051	0.021739	0.011696	0.000000	0.017241	0.030675	0.026515	0.08333	932.83	34	chr17	36943072	.	G	T	932.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.29;DP=250;ExcessHet=0;FS=13.488;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-1.067;SOR=1.838	GT:AD:DP:GQ:PL	0/1:31,35:66:99:943,0,747	5	0	1	0
chr17	37257713	37257713	C	T	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon12:c.G1531A:p.E511K,ACACA:NM_198838:exon13:c.G1471A:p.E491K,ACACA:NM_198834:exon14:c.G1816A:p.E606K,ACACA:NM_198836:exon14:c.G1705A:p.E569K,ACACA:NM_198839:exon18:c.G1705A:p.E569K	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.0171503242482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.17696	T	0.746	0.44790	P	0.557	0.55725	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.885	0.50048	L	.	.	.	.	.	.	0.862	0.85872	0.107	0.84300	D	0.637	0.87289	D	10	0.7375028	0.74723	D	0.01715	0.38730	T	.	.	0.467	0.53891	0.877869702975	0.87668	0.9836152231955558	0.98353	.	.	0.872255206108	0.92889	D	0.780159	0.94189	D	0.432308	0.91648	D	0.383204	0.91545	D	0.977236747741699	0.71748	D	.	.	.	0.81459284	0.84857	0.6431959	0.79147	0.81459284	0.84859	0.6431959	0.79148	-9.549	0.74745	D	.	.	0.857	0.80134	P	.;.;.;.	.;.;.;.	5.294357	0.88888	29.8	0.9986442591158583	0.94276	0.98597	0.84519	D	AEFBI	0.820385	0.74119	D	0.627107990343815	0.74894	6.211086	0.69699622420893	0.82148	7.696462	0.999999997971713	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	5.93	5.93	0.95888	7.905000	0.86479	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.342	0.94335	689	0.59000	.;.;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3282.55	76	chr17	37257713	.	C	T	3282.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.842;DP=421;ExcessHet=11.5949;FS=462.603;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.11;ReadPosRankSum=0.71;SOR=10.961	GT:AD:DP:GQ:PL	0/1:21,25:46:99:280,0,239	0	0	6	0
chr17	39462919	39462919	C	T	exonic	CDK12	.	nonsynonymous SNV	CDK12:NM_015083:exon1:c.C848T:p.S283L,CDK12:NM_016507:exon1:c.C848T:p.S283L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0123623052284	.	.	8.245e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs759485356	3.42e-06	3.42e-06	0	6.875e-06	5.797e-05	1e-06	7.3e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	0	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.205	0.30729	T	0.989	0.73220	D	0.791	0.68163	P	0.000646	0.42656	D	0.000000	0.567936	0.31202	N	1.1	0.28011	L	0.99	0.41750	T	-1.2	0.32590	N	0.109	0.09490	-0.9323	0.43799	T	0.133	0.44544	T	10	0.14121258	0.26835	T	0.012362	0.30863	T	0.077	0.22490	0.323	0.30387	0.264728329957	0.26087	0.29246038892761456	0.29159	0.296819178125	0.32070	0.548316121101	0.45620	T	0.020941	0.38417	T	-0.22175	0.17756	T	-0.459451	0.26660	T	0.445094406604767	0.30616	T	0.855414	0.62654	D	0.17235704	0.37922	0.17569329	0.40053	0.17235704	0.37921	0.17569329	0.40052	-6.148	0.47501	T	.	.	0.076	0.07554	B	.;.;.	.;.;.	4.474256	0.69744	25.4	0.99882987450524185	0.95892	0.44421	0.27315	N	AEFDBHCIJ	0.077569	0.15632	N	0.24858172236585	0.53569	3.525166	0.290216614173053	0.54966	3.660357	0.999999981328827	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.657601	0.63696	0	.	.	5.3	5.3	0.74745	1.851000	0.38978	5.970000	0.51981	0.599000	0.40250	0.900000	0.31427	0.982000	0.30508	0.999000	0.91618	0.0:0.915:0.0:0.085	12.765	0.56763	392	0.83172	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1809.83	34	chr17	39462919	.	C	T	1809.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.24;DP=314;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=1.33;SOR=0.721	GT:AD:DP:GQ:PL	0/1:68,69:137:99:1820,0,1607	5	0	1	0
chr17	41382308	41382308	A	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.T65C:p.L22P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.018428726593	.	.	8.238e-06	0	0	0	0	0	0.0011	0	7.76e-05	12	154602	rs756013781	5.481e-06	0.0003	8.182e-06	2.754e-06	2.236e-05	2.36e-06	1.7e-06	1.94e-06	1.28e-06	0	2.236e-05	0	0	0	0	5.403e-06	1.659e-05	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.003	0.76473	D	0.976	0.58310	D	0.556	0.49411	P	.	.	.	.	0.999455	0.47118	D	1.245	0.31408	L	-1.89	0.84557	D	.	.	.	0.669	0.67736	-1.0427	0.16503	T	0.078	0.31042	T	8	0.66327584	0.70279	D	0.018429	0.40491	T	.	.	0.428	0.47515	0.761221526906	0.75905	0.03657958571385173	0.03604	0.342438391368	0.36184	0.435077399015	0.29903	T	0.021796	0.16915	T	0.121469	0.66520	D	-0.0632948	0.66101	T	0.91840136051178	0.57665	D	0.333767	0.07077	T	0.1847125	0.39799	0.32490122	0.58410	0.1847125	0.39799	0.32490122	0.58410	-3.974	0.23413	T	.	.	0.079	0.07130	B	.	.	1.715876	0.21849	15.37	0.98901740872576172	0.48199	0.67040	0.33290	D	AEFDBCI	0.211856	0.33761	N	0.136755772330337	0.48185	3.034055	0.188891208117852	0.49238	3.129369	0.733449985707655	0.23090	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	5.17	0.70848	1.869000	0.39156	2.221000	0.31450	0.660000	0.55035	0.999000	0.42656	1.000000	0.68203	0.332000	0.25247	0.7462:0.1678:0.086:0.0	5.942	0.18435	167	0.93508	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	282.06	33	chr17	41382308	.	A	G	282.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-4.646;DP=403;ExcessHet=0.4139;FS=155.381;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.09;ReadPosRankSum=1.83;SOR=7.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,23:105:99:0|1:41382308_A_G:229,0,3100:41382308	4	0	2	0
chr17	41382311	41382311	C	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.G62C:p.R21T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00843288255634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.114e-05	0.0014	3.86e-05	2.362e-05	3.828e-05	2.374e-05	2.119e-05	2.866e-05	2.541e-05	0	0	3.836e-05	2.523e-05	0	0	3.828e-05	0	1.165e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.28764	T	0.049	0.22227	B	0.026	0.20792	B	.	.	.	.	0.997716	0.22540	N	0.755	0.19153	N	-1.61	0.82254	D	.	.	.	0.508	0.53972	-1.0258	0.21821	T	0.039	0.16892	T	8	0.18996203	0.34618	T	0.008433	0.22307	T	.	.	0.37	0.38013	0.612421581757	0.60929	0.08565298375764323	0.08499	0.0546681382285	0.06050	0.306222051382	0.11336	T	0.02167	0.16835	T	-0.00440713	0.51045	T	-0.244107	0.50396	T	0.0275842688571556	0.01628	T	0.50295	0.15803	T	0.07200823	0.15984	0.06444694	0.12916	0.07200823	0.15984	0.06444694	0.12916	-3.403	0.15097	T	.	.	0.119	0.24294	B	.	.	1.042832	0.14237	10.81	0.88324392343806579	0.17887	0.65189	0.32654	D	AEFDBCI	0.111491	0.22072	N	-0.660458155333548	0.17157	0.8804225	-0.554068222297903	0.20697	1.116332	0.0465120987434442	0.14694	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	-0.174	0.12665	0.036000	0.13706	-0.541000	0.08582	0.596000	0.33519	0.869000	0.30776	0.000000	0.08366	0.387000	0.26492	0.1565:0.3623:0.0:0.4812	4.436	0.10975	167	0.93508	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	214.06	33	chr17	41382311	.	C	G	214.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-4.958;DP=400;ExcessHet=0.4139;FS=155.381;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=1.74;SOR=7.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:82,15:105:99:.:.:161,0,3117:.	4	0	2	0
chr17	43013615	43013615	G	A	exonic	IFI35	.	nonsynonymous SNV	IFI35:NM_001330230:exon5:c.G515A:p.R172Q,IFI35:NM_005533:exon5:c.G521A:p.R174Q	.	428	1056	34	4	0	42	0.0194986	.	.	.	704159	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.200	.	0.0078	0.00359425	0.0082	0.0014	0.0051	0.0007	0.0021	0.0129	0.0132	0.0021	0.0081047	1253	154602	rs150695787	0.0079	0.0079	0.0079	0.0079	0.0241	0.0078	0.0077	0.0208	0.0196	0.0016	0.0063	0.0530	0.0007	0.0024	0.0241	0.0078	0.0106	0.0025	0.0066	0.0066	0.0069	0.0064	0.0091	0.0063	0.0062	0.0079	0.0077	0.0013	0	0.0091	0.0510	0.0004	0.0026	0.0306	0.0085	0.0066	0.0023	0.106	0.29688	T	0.164	0.31125	T	1.0	0.90584	D	0.984	0.76113	D	0.000008	0.62929	D	0.070465	0.999871	0.19925	N	2.79	0.81396	M	0.86	0.46777	T	-0.9	0.24244	N	0.498	0.53093	-0.7704	0.56836	T	0.223	0.58639	T	10	0.006929964	0.00157	T	.	.	.	0.200	0.48430	.	.	0.484913652648	0.48122	0.5970993023511315	0.59640	0.42604554479	0.42993	0.395032167435	0.24376	T	0.092352	0.38987	T	-0.480353	0.00736	T	-0.452383	0.27434	T	0.0261459651015416	0.01425	T	0.870213	0.59878	D	0.5297764	0.68818	0.3845513	0.63393	0.5297764	0.68819	0.3845513	0.63393	-2.963	0.12106	T	.	.	0.180	0.41663	B	.;.	.;.	4.535300	0.71241	25.6	0.99907404038604708	0.97801	0.82571	0.41780	D	AEFDGBCI	0.396265	0.47280	N	0.393977632713726	0.61094	4.306173	0.261546070718918	0.53307	3.500443	0.999999997459863	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	4.93	4.93	0.64394	4.244000	0.58522	11.797000	0.96542	0.676000	0.76740	0.929000	0.32243	1.000000	0.68203	0.247000	0.23184	0.0:0.0:1.0:0.0	14.994	0.71068	319	0.87030	.;.	CTD-3014M21.1|TMEM106A|CTD-3014M21.1|CTD-3014M21.1|CTD-3014M21.1|CTD-3014M21.1|CTD-3014M21.1|CTD-3014M21.1|RND2|CTD-3014M21.1|CTD-3014M21.1|COASY|NBR2|ARL4D|CTD-3014M21.1	Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Muscle_Skeletal|Skin_Sun_Exposed_Lower_leg|Whole_Blood	COASY|COASY|COASY|PSMC3IP	Adipose_Visceral_Omentum|Brain_Cerebellum|Esophagus_Muscularis|Spleen	rs150695787	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.020645	0.010101	0.024457	0.017544	0.000000	0.008621	0.045732	0.007576	0.08333	929.83	98	chr17	43013615	.	G	A	929.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.747;DP=414;ExcessHet=0;FS=10.154;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-0.899;SOR=0.747	GT:AD:DP:GQ:PL	0/1:39,33:72:99:940,0,1105	5	0	1	0
chr17	43814227	43814227	C	T	exonic	MPP3	.	nonsynonymous SNV	MPP3:NM_001330233:exon15:c.G1219A:p.G407R,MPP3:NM_001932:exon15:c.G1144A:p.G382R,MPP3:NM_001353080:exon16:c.G1168A:p.G390R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.00887170827542	.	.	4.166e-05	0	0	0	0	7.532e-05	0	0	3.23e-05	5	154602	rs757509188	6.022e-05	6.02e-05	4.358e-05	7.703e-05	0.0014	4.963e-05	4.628e-05	0.0007	0.0005	2.987e-05	2.237e-05	0	2.519e-05	1.887e-05	0.0014	5.486e-05	0.0001	6.959e-05	3.286e-05	3.283e-05	3.854e-05	2.691e-05	7.351e-05	1.261e-05	7.98e-06	2.847e-05	1.858e-05	0	0	0	0	0	0	0	7.351e-05	0	0	0.028	0.46129	D	0.064	0.44905	T	0.971	0.57185	D	0.477	0.46994	P	0.013276	0.28895	N	0.416385	0.99999	0.08975	N	1.545	0.39105	L	2.4	0.15608	T	-3.75	0.71157	D	0.486	0.52029	-1.0692	0.09590	T	0.039	0.16720	T	10	0.3132466	0.48777	T	0.008872	0.23390	T	0.075	0.21907	0.264	0.20946	0.573751148353	0.57043	0.5887113101753926	0.58801	0.931011195886	0.71814	0.44305601716	0.30995	T	0.244345	0.61344	T	-0.288083	0.09829	T	-0.465684	0.25983	T	0.435808151960373	0.30275	T	0.954105	0.82903	D	0.12414902	0.29136	0.15397595	0.36159	0.12414902	0.29136	0.15397595	0.36158	-5.45	0.41397	T	0.2835554021337109	0.37923	0.146	0.32299	B	.;.	.;.	3.989780	0.58709	24.0	0.99681887556865489	0.79307	0.17337	0.19793	N	AEFDBHCI	0.126136	0.24294	N	-0.0618384059254505	0.39076	2.298571	-0.141280030732815	0.33745	1.93357	0.999999816698666	0.74766	0.658043	0.49183	0	0.563428	0.19063	0	0.659943	0.59835	0	0.662433	0.64102	0	.	.	5.84	2.65	0.30588	1.130000	0.31007	4.747000	0.44638	0.599000	0.40250	0.047000	0.21291	1.000000	0.68203	0.614000	0.31742	0.1446:0.7081:0.0:0.1473	6.602	0.21901	643	0.63827	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	1256.83	33	chr17	43814227	.	C	T	1256.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.847;DP=309;ExcessHet=0;FS=2.389;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=0.817;SOR=0.495	GT:AD:DP:GQ:PL	0/1:63,55:118:99:1267,0,1379	5	0	1	0
chr17	45453460	45453460	G	C	exonic	PLEKHM1	.	nonsynonymous SNV	PLEKHM1:NM_001352825:exon7:c.C2392G:p.Q798E,PLEKHM1:NM_014798:exon7:c.C2392G:p.Q798E	Osteopetrosis, autosomal recessive 6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.0356683685665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33254	T	0.024	0.56640	D	0.987	0.61912	D	0.625	0.51564	P	0.000278	0.46590	D	0.157646	0.978956	0.40555	D	1.955	0.52871	M	-0.09	0.64086	T	-1.02	0.26843	N	0.417	0.45709	-0.7156	0.59678	T	0.274	0.64556	T	10	0.34252667	0.51282	T	0.035668	0.56494	D	0.151	0.39764	0.394	0.41935	0.690208926127	0.68754	0.5413457682836716	0.54059	1.77695890874	0.91349	0.568832755089	0.48512	T	0.06053	0.31411	T	-0.0643021	0.42233	T	-0.330142	0.41453	T	0.657010687019235	0.38765	D	.	.	.	0.1660082	0.36909	0.21783608	0.46465	0.1660082	0.36909	0.21783608	0.46464	-4.909	0.35836	T	.	.	0.082	0.08948	B	.	.	4.282679	0.65252	24.8	0.99129237038883833	0.53222	0.96658	0.70254	D	AEFBI	0.631851	0.61268	D	0.4233757050402	0.62709	4.491463	0.442934408089635	0.64263	4.677686	0.254771504151335	0.18721	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.7	4.7	0.58776	5.264000	0.65329	11.756000	0.95519	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	16.545	0.84291	368	0.84463	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	418.83	33	chr17	45453460	.	G	C	418.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.111;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=49.2;MQRankSum=0.89;QD=9.97;ReadPosRankSum=0.038;SOR=0.709	GT:AD:DP:GQ:PL	0/1:22,20:42:99:429,0,582	5	0	1	0
chr17	49711281	49711281	G	A	exonic	FAM117A	.	nonsynonymous SNV	FAM117A:NM_030802:exon8:c.C1336T:p.L446F	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.00512514840755	.	.	3.506e-05	0	8.741e-05	0	0	0	0	0.0002	5.17e-05	8	154602	rs768720119	1.099e-05	1.231e-05	8.19e-06	1.382e-05	0.0002	6.51e-06	5.26e-06	3.007e-05	2.045e-05	0	4.508e-05	0	0	0	0.0002	5.412e-06	1.666e-05	6.99e-05	1.314e-05	1.313e-05	0	2.689e-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	0.006	0.61437	D	0.131	0.34716	T	0.99	0.63424	D	0.901	0.63994	P	0.021226	0.26875	N	0.181868	0.812893	0.34666	D	0.55	0.14455	N	.	.	.	-1.2	0.30555	N	0.356	0.43320	-0.8380	0.52780	T	0.101	0.37392	T	9	0.153775	0.29019	T	0.005125	0.13001	T	0.107	0.30369	0.099	0.01433	0.0482279557977	0.04254	0.28957939212064926	0.28870	1.05480476206	0.76289	0.613666892052	0.54834	T	0.044822	0.26933	T	-0.205638	0.19996	T	-0.296492	0.45094	T	0.291990607976913	0.24672	T	0.730727	0.34650	T	0.08952903	0.20922	0.09151522	0.21519	0.08952903	0.20922	0.09151522	0.21518	-4.612	0.32322	T	.	.	0.100	0.27373	B	.;.	.;.	3.623186	0.51284	23.1	0.99863370617303093	0.94184	0.85221	0.44335	D	AEFDBI	0.362204	0.45155	N	0.29081338621149	0.55682	3.732267	0.32799486899558	0.57191	3.884007	0.078816272232719	0.15799	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.669	0.65921	0	.	.	5.12	4.15	0.47978	1.532000	0.35634	7.625000	0.62478	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0843:0.1557:0.76:0.0	8.439	0.31967	770	0.49152	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	397.83	33	chr17	49711281	.	G	A	397.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.244;DP=196;ExcessHet=0;FS=1.405;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=-0.294;SOR=1.123	GT:AD:DP:GQ:PL	0/1:22,15:37:99:408,0,638	5	0	1	0
chr17	58203219	58203219	T	A	exonic	EPX	.	nonsynonymous SNV	EPX:NM_000502:exon11:c.T1847A:p.I616N	.	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	0.2197653025	.	.	4.12e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs764184479	9.577e-06	9.577e-06	4.084e-06	1.513e-05	0.0005	5.56e-06	4.35e-06	0.0001	7.541e-05	0	0	0	0	0	0.0005	0	6.623e-05	8.115e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.858	0.47274	P	0.664	0.52930	P	0.015126	0.28333	N	0.413456	0.966004	0.38503	D	2.725	0.79712	M	-0.4	0.69287	T	-5.46	0.85541	D	0.751	0.75009	0.073	0.83673	D	0.453	0.78621	T	10	0.86360925	0.85593	D	0.219765	0.87724	D	0.462	0.75889	0.629	0.76478	0.897708724811	0.89669	0.8878465195073726	0.88753	0.639877117269	0.57640	0.37930482626	0.22159	T	0.689751	0.90968	D	-0.126429	0.32076	T	-0.159704	0.58380	T	0.734210237653779	0.42429	D	0.979902	0.93196	D	0.9218671	0.93429	0.88543	0.93944	0.9218671	0.93430	0.88543	0.93944	-8.411	0.63838	D	0.5979874735306194	0.66492	0.611	0.69337	P	.	.	4.109798	0.61346	24.3	0.993720318690546	0.61498	0.99225	0.93076	D	AEFDI	0.773823	0.70772	D	0.714204829456195	0.80561	7.322092	0.70732628435957	0.82934	7.891901	0.999996087324262	0.74766	0.533608	0.22052	0	0.588066	0.40923	0	0.685742	0.62368	0	0.613276	0.41899	0	.	.	5.96	5.96	0.96695	5.138000	0.64636	3.459000	0.38500	0.665000	0.62972	0.835000	0.30208	0.531000	0.25362	0.996000	0.76049	0.0:0.0:0.0:1.0	14.400	0.66609	569	0.70546	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	466.83	33	chr17	58203219	.	T	A	466.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.8;DP=229;ExcessHet=0;FS=4.428;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=-1.036;SOR=1.431	GT:AD:DP:GQ:PL	0/1:29,17:46:99:477,0,742	5	0	1	0
chr17	60183298	60183298	A	C	exonic	USP32	.	nonsynonymous SNV	USP32:NM_032582:exon31:c.T3990G:p.D1330E	.	436	1067	19	0	0	19	0.0088249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	.	0.0004	0.00339457	0.0024	0	0.0005	0	0.0002	0.0005	0.0033	0.0153	0.0021345	330	154602	rs201933998	0.0012	0.0012	0.0008	0.0017	0.0146	0.0012	0.0012	0.0140	0.0137	5.975e-05	0.0004	0.0020	0	0.0003	0.0049	0.0003	0.0017	0.0146	0.0009	0.0009	0.0006	0.0011	0.0149	0.0007	0.0007	0.0121	0.0111	9.62e-05	0	0.0008	0.0029	0	0.0004	0	0.0004	0.0009	0.0149	0.562	0.06341	T	0.776	0.04965	T	0.0	0.02946	B	0.001	0.04355	B	0.000066	0.52346	N	0.196730	0.775016	0.29395	N	-0.375	0.03072	N	1.01	0.41058	T	-0.54	0.16598	N	0.097	0.13626	-1.0843	0.06535	T	0.045	0.19397	T	10	0.0035755932	0.00065	T	.	.	.	0.051	0.14325	0.431	0.48007	0.218628672733	0.21463	0.12745906263928541	0.12671	0.517425013995	0.49607	0.394037008286	0.24237	T	0.022677	0.17443	T	-0.664851	0.00059	T	-0.716113	0.04985	T	0.00970801338553429	0.00127	T	0.657134	0.26688	T	0.020675551	0.00635	0.029880913	0.01377	0.020675551	0.00634	0.029880913	0.01376	-3.045	0.10674	T	.	.	0.089	0.12132	B	.;.	.;.	-0.962295	0.00826	0.028	0.94168662651421975	0.24380	0.07690	0.13694	N	AEFBI	0.066555	0.13039	N	-0.789202420597743	0.13591	0.6706229	-0.685935860505343	0.17312	0.9199886	9.63617271352789E-6	0.01202	0.706548	0.73137	0	0.653731	0.59785	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.78	0.908	0.18455	-0.954000	0.03983	-2.545000	0.03625	-0.057000	0.16691	0.013000	0.18845	0.000000	0.08366	0.638000	0.32368	0.3773:0.3003:0.2168:0.1056	1.977	0.03210	482	0.77288	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008294	0.000000	0.008264	0.000000	0.000000	0.008772	0.011538	0.008264	0.08333	461.83	34	chr17	60183298	.	A	C	461.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.01;DP=240;ExcessHet=0;FS=2.171;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.57;ReadPosRankSum=1.09;SOR=0.611	GT:AD:DP:GQ:PL	0/1:38,23:61:99:472,0,913	5	0	1	0
chr17	63910894	63910894	G	C	exonic	CSHL1	.	nonsynonymous SNV	CSHL1:NM_001321068:exon2:c.C41G:p.A14G,CSHL1:NM_001321069:exon2:c.C41G:p.A14G,CSHL1:NM_022579:exon2:c.C41G:p.A14G,CSHL1:NM_022581:exon2:c.C41G:p.A14G	.	0	1509	13	0	0	13	0.00428901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.0298011808187	0.0022	0.000599042	0.0027	0.0005	8.654e-05	0.0002	0.0047	0.0040	0.0011	0.0015	0.002445	378	154602	rs145983838	0.0027	0.0027	0.0027	0.0026	0.0029	0.0026	0.0026	0.0028	0.0028	0.0003	0.0006	0.0042	2.519e-05	0.0046	0.0019	0.0029	0.0022	0.0015	0.0022	0.0022	0.0020	0.0025	0.0030	0.0020	0.0019	0.0026	0.0025	0.0003	0.0011	0.0013	0.0043	0	0.0069	0	0.0030	0.0028	0.0010	0.344	0.41096	T	0.176	0.29843	T	0.023	0.18885	B	0.042	0.24114	B	0.435595	0.12693	N	0.738697	0.999999	0.58761	D	1.475	0.37068	L	-1.93	0.89219	D	-1.33	0.37178	N	0.22	0.35301	-0.2088	0.77445	T	0.652	0.87893	D	10	0.026011705	0.00778	T	0.029801	0.52238	D	0.314	0.63588	.	.	0.85422214745	0.85281	0.3335765527536795	0.33270	0.0246387964316	0.02499	0.417541235685	0.27499	T	0.084293	0.37246	T	-0.353255	0.04526	T	-0.282308	0.46568	T	0.00674738225547141	0.00076	T	0.317668	0.21993	T	0.072824754	0.16230	0.06112649	0.11752	0.072824754	0.16230	0.06112649	0.11751	-4.811	0.34720	T	.	.	0.135	0.29311	B	.;.;.	.;.;.	0.519809	0.08885	5.666	0.96060410269634966	0.28591	0.10130	0.15720	N	AEFBI	0.091656	0.18563	N	-0.583521484761633	0.19444	1.017771	-0.708788819744382	0.16741	0.8870846	1.78559420646938E-5	0.02871	0.497415	0.19182	0	0.59043	0.45803	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	2.28	1.23	0.20358	0.112000	0.15312	1.105000	0.24105	0.361000	0.20101	0.026000	0.20160	0.589000	0.25661	0.011000	0.09372	0.0:0.3288:0.6712:0.0	6.520	0.21469	872	0.31118	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001512	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.08333	1290.83	39	chr17	63910894	.	G	C	1290.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.029;DP=281;ExcessHet=0;FS=3.893;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=-0.658;SOR=1.121	GT:AD:DP:GQ:PL	0/1:45,48:93:99:1301,0,1202	5	0	1	0
chr17	64054353	64054353	C	T	exonic	ERN1	.	nonsynonymous SNV	ERN1:NM_001433:exon15:c.G1850A:p.R617Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.0357817794653	.	.	7.527e-05	0	0	0	0	0.0001	0	0	4.53e-05	7	154602	rs778325600	1.164e-05	1.163e-05	1.09e-05	1.24e-05	1.35e-05	7.09e-06	5.8e-06	8.11e-06	6.43e-06	0	0	0	0	1.877e-05	0	1.35e-05	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.378	0.11262	T	0.183	0.29153	T	0.527	0.37646	P	0.185	0.36047	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.22	0.30592	L	-0.17	0.65563	T	-2.38	0.52451	N	0.76	0.75834	-0.9287	0.44328	T	0.147	0.47183	T	10	0.7214736	0.73691	D	0.035782	0.56573	D	0.324	0.64624	0.542	0.65446	0.892468691898	0.89140	0.48588990889717065	0.48508	0.508620062374	0.49010	0.815683186054	0.84365	D	0.223846	0.58811	T	0.0938303	0.63618	D	0.0779153	0.75439	D	0.250251591205597	0.22884	T	0.925307	0.72522	D	0.8005707	0.83942	0.56902546	0.75048	0.8005707	0.83943	0.56902546	0.75048	-8.103	0.61771	D	.	.	0.303	0.53222	B	.	.	4.904274	0.80630	27.4	0.99449676534873521	0.65223	0.97206	0.73316	D	AEFDGBI	0.700234	0.65732	D	-0.00344444373428399	0.41699	2.498934	0.136210010563403	0.46414	2.88791	0.999999999905143	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.49	5.49	0.81022	5.808000	0.68834	7.640000	0.63152	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.770000	0.36519	0.0:1.0:0.0:0.0	19.390	0.94567	824	0.40336	Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	724.83	33	chr17	64054353	.	C	T	724.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.722;DP=223;ExcessHet=0;FS=1.065;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=-1.383;SOR=0.481	GT:AD:DP:GQ:PL	0/1:23,30:53:99:735,0,541	5	0	1	0
chr17	67189684	67189684	T	C	exonic	HELZ	.	nonsynonymous SNV	HELZ:NM_001330447:exon11:c.A769G:p.I257V,HELZ:NM_014877:exon11:c.A769G:p.I257V	.	427	1088	7	0	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	0.0004	0.000399361	0.0012	0	8.645e-05	0	0.0101	0.0007	0.0011	0.0018	0.0010155	157	154602	rs200311859	0.0007	0.0007	0.0007	0.0008	0.0017	0.0007	0.0007	0.0015	0.0014	3.001e-05	0.0002	0	0	0.0101	0.0017	0.0003	0.0006	0.0017	0.0010	0.0010	0.0006	0.0015	0.0010	0.0009	0.0008	0.0006	0.0006	7.216e-05	0	0.0003	0	0	0.0083	0	0.0008	0.0009	0.0010	0.684	0.04379	T	1.0	0.01155	T	0.007	0.14184	B	0.01	0.14941	B	0.010406	0.29936	N	0.393809	0.790031	0.29236	N	-0.785	0.01646	N	-1.54	0.81727	D	0.16	0.05217	N	0.079	0.05414	-0.8734	0.50272	T	0.117	0.41165	T	10	0.0025992095	0.00040	T	.	.	.	0.030	0.07022	.	.	0.15499578495	0.15088	0.13468853899872957	0.13392	0.537625116665	0.51056	0.225903958082	0.01679	T	0.054353	0.29701	T	-0.478532	0.00754	T	-0.484782	0.23940	T	0.00512657710811857	0.00055	T	0.79842	0.44325	T	0.018344209	0.00355	0.024436295	0.00464	0.017848412	0.00308	0.026508402	0.00743	-2.751	0.07742	T	.	.	0.052	0.00328	B	.;.	.;.	0.934784	0.13100	9.604	0.73766919102189621	0.10448	0.45971	0.27656	N	AEFBI	0.046154	0.07633	N	-0.978408994148129	0.09065	0.4275541	-0.784357432633978	0.14878	0.7797135	0.00240518358675999	0.09398	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.06	-1.54	0.08130	-0.076000	0.11374	-0.062000	0.12412	0.665000	0.62972	0.805000	0.29786	0.829000	0.27196	0.997000	0.79791	0.0:0.3079:0.321:0.371	6.800	0.22931	638	0.64280	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.007576	0.08333	731.83	34	chr17	67189684	.	T	C	731.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.383;DP=233;ExcessHet=0;FS=3.505;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=0.34;SOR=0.825	GT:AD:DP:GQ:PL	0/1:29,32:61:99:742,0,642	5	0	1	0
chr17	67692697	67692697	A	G	exonic	PITPNC1	.	nonsynonymous SNV	PITPNC1:NM_012417:exon9:c.A808G:p.S270G	.	425	1095	2	0	0	2	0.000912409	.	.	.	3368883	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.055	0.00719003653006	.	.	0.0001	0	0	0	0	1.499e-05	0.0011	0.0007	9.06e-05	14	154602	rs778429473	7.663e-05	7.661e-05	4.493e-05	0.0001	0.0010	6.491e-05	6.071e-05	0.0007	0.0007	0	2.236e-05	0	0	0	0.0010	1.709e-05	0.0001	0.0009	3.288e-05	3.284e-05	2.571e-05	4.038e-05	0.0006	1.262e-05	7.98e-06	0.0002	9.025e-05	0	0	0	0	0	0	0	2.941e-05	0	0.0006	.	.	.	0.312	0.19599	T	0.0	0.02946	B	0.001	0.04355	B	0.000014	0.62929	D	0.178401	0.989563	0.81001	D	1.295	0.32453	L	0.73	0.50721	T	.	.	.	0.168	0.17828	-1.0554	0.12934	T	0.068	0.27811	T	10	0.041391283	0.02790	T	0.00719	0.19061	T	.	.	0.201	0.11522	0.151262610727	0.14761	0.4965256506311141	0.49573	0.586081728629	0.54225	0.465904027224	0.34119	T	0.01324	0.11486	T	-0.446194	0.01189	T	-0.486508	0.23758	T	0.121741172166551	0.14599	T	0.792121	0.43364	T	0.10483082	0.24783	0.20736174	0.44991	0.10483082	0.24782	0.20736174	0.44990	-7.869	0.60174	D	.	.	0.063	0.01428	B	.	.	3.334618	0.45925	22.2	0.96320008337444596	0.29410	0.97817	0.77351	D	AEFGBI	0.903217	0.85203	D	-0.179250484696181	0.33999	1.935427	0.035507031932653	0.41375	2.484804	0.942268721866049	0.27514	0.706548	0.73137	0	0.724815	0.89359	0	0.80507	0.99327	0	0.564101	0.26826	0	.	.	5.75	5.75	0.90390	7.223000	0.77520	9.135000	0.78888	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.234000	0.22842	0.9277:0.0:0.0723:0.0	10.406	0.43440	844	0.36711	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1420.83	34	chr17	67692697	.	A	G	1420.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.508;DP=328;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.6;ReadPosRankSum=0.158;SOR=0.699	GT:AD:DP:GQ:PL	0/1:81,67:148:99:1431,0,2096	5	0	1	0
chr17	73196714	73196714	A	G	exonic	COG1	.	nonsynonymous SNV	COG1:NM_018714:exon2:c.A523G:p.I175V	Congenital disorder of glycosylation, type IIg	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.00936929102444	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1254095334	2.052e-06	2.736e-06	2.723e-06	1.375e-06	2.319e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	8.993e-07	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.267	0.22561	T	0.91	0.50240	P	0.796	0.58006	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.485	0.72352	M	1.85	0.24472	T	-0.37	0.13226	N	0.526	0.55540	-1.0948	0.04781	T	0.105	0.38366	T	10	0.36470896	0.53009	T	0.009369	0.24577	T	0.145	0.38592	0.529	0.63560	0.346768085243	0.34289	.	.	0.47288450683	0.46523	0.480561971664	0.36134	T	0.010829	0.18993	T	-0.146469	0.28866	T	-0.351315	0.39055	T	0.80850875377655	0.46941	D	0.894511	0.63379	D	0.108982295	0.25768	0.10144471	0.24284	0.108982295	0.25767	0.10144471	0.24284	-4.704	0.33453	T	0.3604962406105911	0.45698	0.167	0.36830	B	.;.	.;.	2.794748	0.36749	20.3	0.95240036926513527	0.26482	0.98419	0.82582	D	AEFDBHCIJ	0.807458	0.73150	D	0.486804250337044	0.66317	4.934752	0.54589994000981	0.71112	5.605528	0.999999993447485	0.74766	0.696267	0.57585	0	0.577304	0.33150	0	0.659943	0.59835	0	0.629945	0.49285	0	.	.	5.21	5.21	0.72005	8.405000	0.90096	9.316000	0.80002	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.253	0.73261	476	0.77720	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	686.83	34	chr17	73196714	.	A	G	686.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.644;DP=226;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=-1.024;SOR=0.751	GT:AD:DP:GQ:PL	0/1:22,25:47:99:697,0,600	5	0	1	0
chr17	74850679	74850679	C	T	exonic	GRIN2C	.	nonsynonymous SNV	GRIN2C:NM_000835:exon5:c.G1202A:p.R401Q,GRIN2C:NM_001278553:exon5:c.G1202A:p.R401Q	.	429	1089	4	0	0	4	0.00183318	.	.	.	743522	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.157	.	0.0078	0.00599042	0.0023	0.0261	0.0003	0	0	3.058e-05	0	0	0.0020698	320	154602	rs149632379	0.0007	0.0007	0.0008	0.0007	0.0283	0.0007	0.0007	0.0268	0.0262	0.0283	0.0005	0	0	1.889e-05	0.0002	4.497e-05	0.0012	1.159e-05	0.0074	0.0074	0.0076	0.0072	0.0259	0.0070	0.0069	0.0246	0.0241	0.0259	0	0.0020	0	0	0	0	0.0001	0.0052	0	0.29	0.55530	T	0.38	0.15988	T	0.446	0.35981	B	0.079	0.28749	B	0.000000	0.84330	D	0.000000	0.999887	0.50402	D	1.05	0.26816	L	0.68	0.51952	T	-0.87	0.68651	N	0.758	0.75650	-1.0655	0.10432	T	0.050	0.21222	T	10	0.010454416	0.00233	T	.	.	.	0.157	0.40909	.	.	0.789252435314	0.78729	0.8576185755611014	0.85724	0.707628307958	0.61502	0.67750877142	0.63911	T	0.15822	0.50115	T	-0.338714	0.05477	T	-0.239043	0.50893	T	0.0116936453982894	0.00179	T	0.838216	0.51127	T	0.36454564	0.58179	0.3265242	0.58558	0.36454564	0.58179	0.3265242	0.58558	-3.999	0.23789	T	.	.	0.082	0.16010	B	.;.	.;.	4.712915	0.75728	26.4	0.9918945174605478	0.54935	0.99236	0.93238	D	AEFDGBI	0.716995	0.66865	D	-0.0220965186881591	0.40856	2.433597	0.0834038513403977	0.43714	2.667494	0.999999980095956	0.74766	0.59774	0.34471	0	0.550933	0.16991	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	4.38	4.38	0.52019	4.916000	0.63061	4.733000	0.44564	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:1.0:0.0:0.0	17.101	0.86524	895	0.25842	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.005051	0.002717	0.000000	0.050000	0.000000	0.003049	0.000000	0.08333	1531.83	41	chr17	74850679	.	C	T	1531.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.296;DP=335;ExcessHet=0;FS=6.24;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=-1.067;SOR=0.845	GT:AD:DP:GQ:PL	0/1:77,64:141:99:1542,0,1931	5	0	1	0
chr17	76137952	76137952	C	A	exonic	FOXJ1	.	nonsynonymous SNV	FOXJ1:NM_001454:exon3:c.G667T:p.A223S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.535	0.404873621298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.35349	T	0.301	0.20293	T	0.825	0.45873	P	0.495	0.47504	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.935	0.51832	L	-3.44	0.94428	D	-0.5	0.15782	N	0.213	0.23758	0.674	0.92845	D	0.818	0.93880	D	10	0.37268645	0.53596	T	0.404874	0.93475	D	0.535	0.80486	0.244	0.17830	0.624392809162	0.62133	0.35321987304593494	0.35235	1.04732435753	0.76000	0.691409468651	0.65909	T	0.186784	0.54019	T	0.148425	0.69121	D	-0.0245738	0.68728	D	0.877705872058868	0.52761	D	0.782222	0.41780	T	0.19689998	0.41535	0.17757659	0.40368	0.19689998	0.41535	0.17757659	0.40367	-5.226	0.39205	T	.	.	0.13	0.27910	B	.	.	4.631162	0.73641	26.0	0.9963444670518925	0.76264	0.98161	0.80128	D	AEFDBHCI	0.916752	0.88340	D	0.428369448306039	0.62986	4.524109	0.445771618165184	0.64447	4.69995	0.999999999999996	0.74766	0.652421	0.48094	0	0.59043	0.45803	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	4.78	4.78	0.60666	5.646000	0.67590	.	.	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.893000	0.43066	0.0:1.0:0.0:0.0	17.798	0.88488	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	363.83	34	chr17	76137952	.	C	A	363.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.079;DP=205;ExcessHet=0;FS=1.475;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-0.114;SOR=1.148	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,14:32:99:1|0:76137942_C_T:374,0,545:76137942	5	0	1	0
chr17	80339481	80339481	C	A	exonic	RNF213	.	nonsynonymous SNV	RNF213:NM_001256071:exon26:c.C5114A:p.T1705K	.	0	1512	10	0	0	10	0.00329598	.	.	.	404727	not_provided|RNF213-related_disorder|Moyamoya_disease_2	MedGen:C3661900|.|MONDO:MONDO:0011784,MedGen:C1846689,OMIM:607151,Orphanet:2573	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.171	0.0389381978978	0.0070	0.00179712	0.0044	0.0011	0.0066	0	0	0.0054	0.0060	0.0043	0.0015459	239	154602	rs147868237	0.0078	0.0074	0.0079	0.0076	0.0091	0.0076	0.0076	0.0090	0.0089	0.0013	0.0024	7.942e-05	0	0.0023	0.0033	0.0091	0.0070	0.0036	0.0045	0.0045	0.0049	0.0041	0.0079	0.0042	0.0041	0.0074	0.0072	0.0015	0	0.0025	0	0	0.0020	0.0068	0.0079	0.0033	0.0029	0.003	0.68238	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	0.868388	0.35516	D	.	.	.	1.22	0.37405	T	-4.88	0.81350	D	0.643	0.65501	-0.4718	0.69662	T	0.258	0.62823	T	6	0.0135706365	0.00287	T	0.038938	0.58518	D	0.171	0.43483	.	.	0.545696997403	0.54224	.	.	1.13289421902	0.78681	0.537699520588	0.44120	T	0.250952	0.62112	T	-0.364219	0.03897	T	-0.288133	0.45967	T	0.0357116047724245	0.02930	T	0.818818	0.47619	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.453	0.62361	A	.;.	.;.	3.129836	0.42292	21.5	0.95721625347581629	0.27646	0.90708	0.52111	D	AEFDGBHCI	0.424317	0.48954	N	0.339997956176872	0.58214	3.99237	0.383633584453156	0.60554	4.244408	0.998421025677962	0.36942	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.78	4.76	0.60189	4.901000	0.62947	5.783000	0.49817	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.302000	0.24547	0.0:0.7622:0.2378:0.0	16.207	0.81954	862	0.33134	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002825	0.000000	0.000000	0.000000	0.000000	0.000000	0.006757	0.012821	0.08333	2048.83	34	chr17	80339481	.	C	A	2048.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.411;DP=373;ExcessHet=0;FS=1.23;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-0.831;SOR=0.607	GT:AD:DP:GQ:PL	0/1:81,81:162:99:2059,0,1972	5	0	1	0
chr17	81460363	81460363	G	A	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001377448:exon24:c.G5992A:p.V1998I,BAHCC1:NM_001291324:exon25:c.G6085A:p.V2029I	.	432	1040	47	3	0	53	0.0248476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	.	0.0090	0.00998403	0.0159	0.0063	0.0067	0.0002	0.0063	0.0143	0.0145	0.0410	0.0097153	1502	154602	rs34680524	0.0099	0.0099	0.0085	0.0112	0.0303	0.0097	0.0096	0.0292	0.0288	0.0041	0.0043	0.0037	0.0001	0.0026	0.0162	0.0093	0.0100	0.0303	0.0081	0.0081	0.0079	0.0083	0.0299	0.0077	0.0076	0.0259	0.0244	0.0054	0	0.0074	0.0052	0	0.0036	0.0136	0.0099	0.0085	0.0299	1.0	0.00964	T	1.0	0.01155	T	0.004	0.12183	B	0.002	0.06944	B	0.000449	0.44317	N	0.091404	0.999131	0.21587	N	.	.	.	1.26	0.36330	T	0.72	0.02099	N	0.139	0.14054	-0.9544	0.40203	T	0.010	0.03856	T	10	0.007214874	0.00164	T	.	.	.	0.103	0.29403	.	.	0.0138822411134	0.00435	0.1990185493906276	0.19818	0.0687072840253	0.07698	0.380222648382	0.22289	T	0.04827	0.27968	T	-0.542436	0.00324	T	-0.528263	0.19461	T	0.00198792404725697	0.00020	T	0.828317	0.49240	T	0.022924742	0.00991	0.050592054	0.07971	0.022924742	0.00991	0.050592054	0.07971	1.392	0.00091	T	.	.	0.063	0.01449	B	.;.	.;.	1.685483	0.21476	15.22	0.81057149420605201	0.13498	0.18993	0.20485	N	AEFGBCI	0.057178	0.10630	N	-0.845303115850774	0.12166	0.5913537	-0.575123179589667	0.20142	1.083889	0.998976047960637	0.38110	0.646311	0.45356	0	0.588066	0.40923	0	0.603688	0.36954	0	0.699875	0.68795	0	.	.	4.6	2.3	0.27735	5.509000	0.66731	7.966000	0.76021	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.914000	0.44937	0.8036:0.0:0.1964:0.0	7.368	0.25959	.	.	.;.	PDE6G	Whole_Blood	.	.	rs34680524	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011089	0.005051	0.008152	0.002924	0.000000	0.000000	0.012195	0.034091	0.08333	1039.83	36	chr17	81460363	.	G	A	1039.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.21;DP=254;ExcessHet=0;FS=3.131;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=0.755;SOR=0.378	GT:AD:DP:GQ:PL	0/1:37,40:77:99:1050,0,893	5	0	1	0
chr17	82193983	82193983	G	A	exonic	CCDC57	.	nonsynonymous SNV	CCDC57:NM_198082:exon5:c.C775T:p.R259W,CCDC57:NM_001316321:exon6:c.C775T:p.R259W	.	429	1091	2	0	0	2	0.000915751	0.0009	0.09	.	2338839	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.119	0.0220442540263	0.0007	.	0.0003	0.0006	0.0003	0	0	0.0003	0	6.5e-05	0.0002264	35	154602	rs201633568	0.0001	0.0002	0.0001	0.0002	0.0017	0.0001	0.0001	0.0009	0.0007	0.0006	0.0003	0.0007	0	3.942e-05	0.0017	0.0001	0.0004	0.0002	0.0003	0.0003	0.0003	0.0003	0.0007	0.0002	0.0002	0.0004	0.0003	0.0005	0	0.0007	0.0006	0	0	0	0.0002	0.0005	0	0.037	0.45393	D	0.063	0.45110	T	0.271	0.31796	B	0.05	0.25278	B	0.001184	0.39899	N	0.109437	0.960858	0.26130	N	1.415	0.35607	L	2.74	0.29602	T	-5.31	0.84457	D	0.413	0.45331	-1.0967	0.04514	T	0.051	0.21767	T	10	0.05852261	0.06893	T	0.022044	0.44897	T	0.119	0.33137	.	.	0.523444149082	0.51990	0.35333337391198155	0.35247	0.186577767987	0.20968	0.427370071411	0.28850	T	0.107896	0.42048	T	-0.411814	0.01933	T	-0.460569	0.26537	T	0.0383882155535584	0.03402	T	0.794321	0.43637	T	0.12426074	0.29159	0.15081394	0.35553	0.12426074	0.29159	0.15081394	0.35552	-9.349	0.71375	D	.	.	0.174	0.38043	B	.;.;.	.;.;.	3.008639	0.40229	21.1	0.9091691132060149	0.20165	0.78298	0.38608	D	AEFDBI	0.350027	0.44362	N	-0.58405523067426	0.19429	1.01677	-0.548579585545615	0.20843	1.124874	0.999950127730628	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	8.03E-4	0.00125	3	0.635551	0.53088	0	.	.	4.54	1.21	0.20240	1.494000	0.35225	2.911000	0.35508	-0.122000	0.13826	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	0.0984:0.0:0.5501:0.3515	5.404	0.15612	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	400.83	20	chr17	82193983	.	G	A	400.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.06;DP=161;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=1.22;SOR=0.784	GT:AD:DP:GQ:PL	0/1:15,13:28:99:411,0,372	5	0	1	0
chr18	13826679	13826679	C	T	exonic	MC5R	.	nonsynonymous SNV	MC5R:NM_005913:exon2:c.C914T:p.T305I	.	426	1079	17	0	0	17	0.00781609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.0206561591075	0.0047	0.00239617	0.0058	0.0009	0.0042	0	0.0085	0.0075	0.0089	0.0047	0.0055497	858	154602	rs143262370	0.0058	0.0058	0.0056	0.0059	0.0062	0.0057	0.0056	0.0057	0.0056	0.0013	0.0048	0.0115	2.519e-05	0.0102	0.0062	0.0058	0.0062	0.0057	0.0054	0.0054	0.0054	0.0053	0.0068	0.0051	0.0050	0.0063	0.0061	0.0011	0.0658	0.0050	0.0121	0	0.0090	0.0034	0.0068	0.0057	0.0052	0.017	0.51248	D	0.021	0.58089	D	0.992	0.64738	D	0.776	0.57120	P	0.000000	0.84330	D	0.048357	1	0.81001	D	3.315	0.90654	M	1.12	0.38718	T	-4.53	0.78388	D	0.317	0.35727	-0.6575	0.62386	T	0.163	0.49864	T	10	0.0105730295	0.00235	T	0.020656	0.43298	T	0.299	0.61955	.	.	0.839078506627	0.83754	.	.	0.422540009759	0.42749	0.426244556904	0.28695	T	0.399957	0.75766	T	-0.389481	0.02712	T	-0.324562	0.42071	T	0.0740934471101654	0.09214	T	0.981602	0.93790	D	0.41131297	0.61508	0.33625132	0.59430	0.41131297	0.61509	0.33625132	0.59429	-9.566	0.71269	D	.	.	0.776	0.76201	P	.;.	.;.	2.352695	0.30161	18.35	0.99712454656348337	0.81423	0.90131	0.51070	D	AEFDGBI	0.597263	0.59111	D	0.343357853769847	0.58388	4.010891	0.259676189149719	0.53201	3.490317	1.0	0.98316	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	4.58	4.58	0.56077	2.619000	0.46066	2.174000	0.31077	-0.240000	0.07525	0.983000	0.35670	0.659000	0.26006	0.027000	0.12703	0.0:1.0:0.0:0.0	17.722	0.88260	854	0.34840	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1100.83	39	chr18	13826679	.	C	T	1100.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.813;DP=260;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.5;ReadPosRankSum=-1.16;SOR=0.78	GT:AD:DP:GQ:PL	0/1:31,40:71:99:1111,0,833	5	0	1	0
chr18	14513679	14513679	T	G	exonic	POTEC	.	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.A1516C:p.K506Q	.	1001	337	183	1	0	185	0.215367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.000961216431828	.	.	.	.	.	.	.	.	.	.	8.41e-05	13	154602	rs28606506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.267	0.22561	T	0.455	0.36245	P	0.137	0.33328	B	.	.	.	.	1	0.08975	N	2.35	0.67516	M	1.38	0.34050	T	0.11	0.05706	N	0.36	0.40164	-1.0459	0.15563	T	0.060	0.25273	T	9	0.10279083	0.18859	T	9.61E-4	0.00980	T	0.021	0.04004	0.44	0.49484	0.191931220699	0.18833	0.008575884169956268	0.00821	.	.	0.661467790604	0.61620	T	0.009409	0.08568	T	-0.232587	0.16309	T	-0.571872	0.15279	T	0.115140116944907	0.13948	T	0.559044	0.19511	T	0.0817621	0.18801	0.04864013	0.07268	0.0817621	0.18801	0.04864013	0.07268	-3.826	0.21193	T	.	.	0.126	0.26545	B	.	.	1.424813	0.18423	13.73	0.59010782571540543	0.06124	0.01638	0.05273	N	AEFI	0.034532	0.04293	N	-0.924811265974744	0.10264	0.4896489	-1.10812489953313	0.07544	0.3673648	1.29605380073252E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-0.976	0.09761	1.060000	0.30139	.	.	0.332000	0.19570	0.003000	0.16062	0.000000	0.08366	0.028000	0.12845	0.0:0.4792:0.0:0.5208	4.177	0.09818	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	589.03	33	chr18	14513679	.	T	G	589.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=2.66;DP=539;ExcessHet=1.383;FS=10.147;MLEAC=3;MLEAF=0.25;MQ=50.73;MQRankSum=-7.677;QD=1.38;ReadPosRankSum=-2.477;SOR=1.638	GT:AD:DP:GQ:PL	0/1:102,13:115:63:63,0,2650	3	0	3	0
chr18	23836998	23836998	C	T	exonic	LAMA3	.	nonsynonymous SNV	LAMA3:NM_001127717:exon25:c.C3002T:p.A1001V,LAMA3:NM_198129:exon25:c.C3002T:p.A1001V	Epidermolysis bullosa, generalized atrophic benign, Autosomal recessive;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Laryngoonychocutaneous syndrome, Autosomal recessive	3	1516	3	0	0	3	0.000988468	.	.	.	760691	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.080	.	.	0.00519169	0.0029	0	0	0.0001	0.0002	1.501e-05	0.0022	0.0209	0.002445	378	154602	rs201043541	0.0012	0.0012	0.0007	0.0018	0.0193	0.0012	0.0012	0.0186	0.0183	0.0001	0	0	2.519e-05	0	0.0005	3.148e-05	0.0014	0.0193	0.0007	0.0007	0.0003	0.0011	0.0205	0.0006	0.0005	0.0172	0.0160	7.218e-05	0	0	0	0.0002	0	0	2.94e-05	0	0.0205	1.0	0.00964	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.53	0.14160	T	1.12	0.01197	N	0.125	0.12627	-0.9430	0.42137	T	0.010	0.03811	T	9	0.0031779408	0.00053	T	.	.	.	0.080	0.23350	0.218	0.13932	0.149567049428	0.14543	0.2027050277743863	0.20187	0.118445075444	0.13338	0.247426211834	0.03501	T	0.011054	0.09913	T	-0.765705	0.00014	T	-0.857064	0.00875	T	0.00549003314218104	0.00060	T	0.767123	0.39533	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07697	B	.;.	.;.	-0.169082	0.03252	0.551	0.11712263988350595	0.00184	0.01063	0.03945	N	AEFBI	0.039183	0.05656	N	-1.33935797233147	0.03236	0.1442317	-1.27244444320078	0.04807	0.2276251	0.989087209515111	0.31718	0.646311	0.45356	0	0.547309	0.14657	0	0.602189	0.34648	0	0.699875	0.68795	0	.	.	5.74	-0.644	0.10902	0.098000	0.15027	0.060000	0.14119	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.1823:0.0:0.8177	10.305	0.42855	610	0.67008	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.004532	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.022727	0.08333	413.83	33	chr18	23836998	.	C	T	413.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.125;DP=193;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=1.07;SOR=0.719	GT:AD:DP:GQ:PL	0/1:21,19:40:99:424,0,486	5	0	1	0
chr18	26151933	26151933	A	G	exonic	PSMA8	.	nonsynonymous SNV	PSMA8:NM_001025096:exon3:c.A305G:p.D102G,PSMA8:NM_001025097:exon3:c.A191G:p.D64G,PSMA8:NM_144662:exon3:c.A323G:p.D108G,PSMA8:NM_001308188:exon4:c.A227G:p.D76G	.	436	1082	4	0	0	4	0.00184502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.472	0.0485267053274	0.0059	.	0.0040	0.0012	0.0017	0	0.0008	0.0057	0.0033	0.0042	0.0001537	4	26028	rs150332181	0.0059	0.0060	0.0059	0.0060	0.0071	0.0058	0.0058	0.0069	0.0069	0.0006	0.0012	0.0046	0	0.0011	0.0007	0.0071	0.0042	0.0038	0.0042	0.0042	0.0045	0.0039	0.0071	0.0040	0.0038	0.0066	0.0064	0.0010	0.0384	0.0015	0.0037	0.0002	0.0017	0	0.0071	0.0024	0.0039	0.002	0.72154	D	0.005	0.74150	D	0.926	0.56408	P	0.822	0.63100	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.92	0.23082	T	-6.36	0.91226	D	0.897	0.89689	-0.7673	0.57006	T	0.131	0.44208	T	10	0.06221643	0.07920	T	0.048527	0.63412	D	0.472	0.76554	.	.	0.493089126863	0.48943	0.5864813114806112	0.58578	0.429692270948	0.43248	0.695400416851	0.66481	T	0.184423	0.53707	T	-0.102252	0.36051	T	0.0897403	0.76228	D	0.0851795077643375	0.10636	T	0.989201	0.96434	D	0.8430733	0.86829	0.75241834	0.85366	0.8430733	0.86830	0.75241834	0.85367	-10.627	0.77573	D	.	.	0.823	0.80024	P	.;.;.;.	.;.;.;.	4.846188	0.79174	27.0	0.99834689549386801	0.91628	0.97800	0.77226	D	AEFI	0.785247	0.71569	D	0.696720196757631	0.79416	7.073284	0.684514964794084	0.81203	7.472081	0.999731560869945	0.42341	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.34	5.34	0.75982	3.440000	0.52649	10.707000	0.83601	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	13.322	0.59875	903	0.23940	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.08333	548.83	33	chr18	26151933	.	A	G	548.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.917;DP=190;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.93;ReadPosRankSum=0.944;SOR=0.813	GT:AD:DP:GQ:PL	0/1:7,22:29:99:559,0,99	5	0	1	0
chr18	31541297	31541297	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon13:c.G1984A:p.A662T	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0891150511824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186896680	1.368e-06	1.368e-06	2.723e-06	0	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.995e-07	0	0	6.575e-06	6.568e-06	1.285e-05	0	6.549e-05	0	0	.	.	0	0	6.549e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000006	0.62929	D	0.000000	0.999817	0.49394	D	3.05	0.86762	M	-0.92	0.75108	T	-3.52	0.68412	D	0.56	0.58458	0.372	0.88677	D	0.658	0.88122	D	10	0.69900656	0.72324	D	0.089115	0.75265	D	0.426	0.73372	0.21	0.12781	0.956247277456	0.95578	0.9288824395156199	0.92866	0.414509619234	0.42131	0.434575915337	0.29834	T	0.621993	0.88164	D	0.0720377	0.61095	D	-0.051434	0.66924	D	0.993339002132416	0.84094	D	0.858914	0.54988	D	0.6406292	0.74865	0.679	0.81137	0.6406292	0.74866	0.679	0.81138	-8.715	0.65844	D	0.8609242873125713	0.92441	0.562	0.67302	A	.	.	4.707566	0.75589	26.4	0.99913393119932348	0.98238	0.99258	0.93561	D	AEFBI	0.734853	0.68086	D	0.925276561188041	0.92941	11.723	0.887186071652214	0.94988	13.21417	0.999999990424555	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	6.638000	0.74166	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	20.563	0.99337	702	0.57624	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	390.92	30	chr18	31541297	.	G	A	390.92	.	AC=2;AF=0.5;AN=4;BaseQRankSum=-1.345;DP=224;ExcessHet=0.9691;FS=159.341;MLEAC=3;MLEAF=0.75;MQ=60;MQRankSum=0;QD=3.46;ReadPosRankSum=0.904;SOR=7.7	GT:AD:DP:GQ:PL	0/1:27,20:47:99:224,0,567	0	0	2	4
chr18	31855737	31855737	T	C	exonic	TRAPPC8	.	nonsynonymous SNV	TRAPPC8:NM_014939:exon21:c.A3259G:p.R1087G	.	432	1088	2	0	0	2	0.000918274	.	.	.	2253903	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.290	0.0337157993156	.	.	5.773e-05	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs780252144	1.37e-05	1.368e-05	5.451e-06	2.203e-05	0.0003	8.95e-06	7.27e-06	0.0001	9.507e-05	0	0	0	0	0	0.0003	0	3.315e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.052	0.47581	T	0.863	0.47474	P	0.678	0.53406	P	0.000015	0.62929	D	0.147567	0.921066	0.36679	D	2.24	0.63355	M	2.28	0.17271	T	-3.74	0.71042	D	0.832	0.82761	-1.1381	0.01431	T	0.067	0.27674	T	10	0.47092617	0.59857	T	0.033716	0.55178	D	0.290	0.60924	0.464	0.53404	0.322865848456	0.31899	0.6725320027135548	0.67191	0.496214373149	0.48140	0.531039118767	0.43181	T	0.132852	0.54605	T	-0.0211831	0.48685	T	0.0377722	0.72782	D	0.583291828632355	0.35745	D	0.935106	0.75644	D	0.4129711	0.61621	0.38874447	0.63711	0.4129711	0.61622	0.38874447	0.63711	-10.326	0.75840	D	.	.	0.311	0.53808	B	.;.	.;.	3.912442	0.57066	23.8	0.94604295905072344	0.25167	0.85903	0.45091	D	AEFBI	0.308654	0.41517	N	0.201019394223562	0.51248	3.307668	0.197771323349708	0.49725	3.172329	0.102020974910811	0.16400	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.51	2.97	0.33479	3.053000	0.49592	2.867000	0.35241	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.3926:0.6074	12.767	0.56776	756	0.51065	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	639.83	35	chr18	31855737	.	T	C	639.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.25;DP=233;ExcessHet=0;FS=3.576;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=0.766;SOR=0.846	GT:AD:DP:GQ:PL	0/1:29,30:59:99:650,0,703	5	0	1	0
chr18	37067197	37067197	G	A	exonic	KIAA1328	.	nonsynonymous SNV	KIAA1328:NM_001322327:exon6:c.G560A:p.C187Y,KIAA1328:NM_001353919:exon6:c.G560A:p.C187Y,KIAA1328:NM_001353918:exon7:c.G872A:p.C291Y,KIAA1328:NM_020776:exon7:c.G884A:p.C295Y,KIAA1328:NM_001353920:exon8:c.G32A:p.C11Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.00495282325438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.981	0.02004	T	1.0	0.03324	T	0.001	0.12183	B	0.002	0.10090	B	0.066107	0.21833	N	0.492799	1	0.08975	N	0.995	0.25082	L	1.0	0.41392	T	-2.1	0.47852	N	0.081	0.14054	-1.0339	0.19205	T	0.038	0.16376	T	10	0.04781583	0.04150	T	0.004953	0.12473	T	0.114	0.32008	0.24	0.17218	0.0884992946249	0.08302	0.12486170782916084	0.12412	0.0693334402013	0.07761	0.349928975105	0.17912	T	0.024333	0.18409	T	-0.281787	0.10479	T	-0.642544	0.09485	T	0.114724479615688	0.13906	T	0.662434	0.28129	T	0.03804784	0.04996	0.067671165	0.14031	0.03804784	0.04996	0.067671165	0.14031	-3.62	0.18147	T	.	.	0.075	0.13174	B	.;.;.;.;.	.;.;.;.;.	0.712451	0.10815	7.495	0.20846672331132926	0.00768	0.17205	0.19735	N	AEFGI	0.089171	0.18075	N	-0.990119155275313	0.08813	0.4147193	-0.924159477584458	0.11525	0.5876435	4.19662457214258E-5	0.03989	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	6.17	1.01	0.19044	0.347000	0.19760	1.733000	0.28342	0.676000	0.76740	0.648000	0.28154	0.820000	0.27118	0.027000	0.12703	0.2504:0.2192:0.3296:0.2008	0.508	0.00551	738	0.53389	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	137.05	33	chr18	37067197	.	G	A	137.05	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-6.333;DP=603;ExcessHet=0.4139;FS=151.123;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.32;ReadPosRankSum=0.672;SOR=8.688	GT:AD:DP:GQ:PL	0/1:157,25:187:17:17,0,3763	4	0	2	0
chr18	44952902	44952902	G	A	exonic	SETBP1	.	nonsynonymous SNV	SETBP1:NM_001379141:exon4:c.G3562A:p.E1188K,SETBP1:NM_001379142:exon4:c.G3562A:p.E1188K,SETBP1:NM_015559:exon4:c.G3562A:p.E1188K	Mental retardation, autosomal dominant 29, Autosomal dominant;Schinzel-Giedion midface retraction syndrome, Autosomal dominant	1	1517	4	0	0	4	0.00131666	.	.	YES	1329951	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.371	0.0453897305913	.	.	0.0001	0	0	0	0	0.0001	0	0.0004	9.06e-05	14	154602	rs763274923	7.593e-05	7.661e-05	4.9e-05	0.0001	0.0009	6.423e-05	6.004e-05	0.0007	0.0007	2.987e-05	2.236e-05	0	0	0	0	2.698e-05	4.967e-05	0.0009	7.887e-05	7.881e-05	8.995e-05	6.727e-05	0.0006	4.498e-05	3.513e-05	0.0002	8.992e-05	0.0001	0	6.545e-05	0	0	0	0	4.409e-05	0	0.0006	0.012	0.54683	D	0.051	0.47828	T	1.0	0.90584	D	0.965	0.71173	D	0.000000	0.84330	D	0.000000	0.999706	0.48408	D	0.895	0.22405	L	-0.67	0.72458	T	-1.63	0.39119	N	0.802	0.79792	-0.3321	0.74072	T	0.427	0.77022	T	10	0.35205036	0.52041	T	0.04539	0.61955	D	0.371	0.69016	.	.	0.342854684421	0.33888	0.16570196897975337	0.16490	0.967141794113	0.73230	0.653127253056	0.60430	T	0.314259	0.68595	T	-0.0673485	0.41752	T	0.0262762	0.72036	D	0.205438107252121	0.20713	T	0.882912	0.60466	D	0.36426437	0.58158	0.34623608	0.60294	0.33089945	0.55544	0.29551062	0.55582	-4.342	0.28761	T	0.3838927469767616	0.47795	0.336	0.55637	B	.;.	.;.	4.676874	0.74799	26.2	0.99892220186702929	0.96589	0.99447	0.96143	D	AEFGBI	0.865084	0.78407	D	0.700326914300229	0.79653	7.123422	0.754554025160057	0.86495	8.90812	0.999999999678058	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.04	6.04	0.98025	7.197000	0.77336	11.868000	0.98498	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.702000	0.34203	0.0:0.0:1.0:0.0	20.579	0.99382	864	0.32732	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1364.83	120	chr18	44952902	.	G	A	1364.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.052;DP=419;ExcessHet=0;FS=2.418;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=0.946;SOR=0.963	GT:AD:DP:GQ:PL	0/1:61,55:116:99:1375,0,1522	5	0	1	0
chr18	51177115	51177115	C	T	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.G1216A:p.D406N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.0371233782211	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1170539047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.79402	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.81	0.81869	M	0.8	0.48769	T	-4.82	0.80851	D	0.665	0.72299	-0.4713	0.69679	T	0.319	0.68874	T	10	0.70792806	0.72858	D	0.037123	0.57424	D	0.315	0.63694	0.411	0.44723	0.803544974683	0.80170	.	.	1.72979365526	0.90724	0.81810438633	0.84738	D	0.45612	0.79501	T	-0.0908589	0.37934	T	-0.368289	0.37088	T	0.994576918359117	0.85946	D	0.979702	0.93682	D	0.72907937	0.79671	0.6503769	0.79545	0.72907937	0.79673	0.6503769	0.79545	-7.331	0.56415	T	.	.	0.945	0.86363	P	.;.	.;.	5.416801	0.90641	31	0.99916025942671016	0.98379	0.99021	0.90073	D	AEFBI	0.899214	0.84335	D	0.898058628751112	0.91662	10.99954	0.896553768688559	0.95422	13.60534	0.999999999999997	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	7.905000	0.86479	7.718000	0.67175	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.210	0.93737	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	188.84	37	chr18	51177115	.	C	T	188.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.856;DP=384;ExcessHet=0;FS=66.703;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.12;ReadPosRankSum=1.42;SOR=5.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,16:89:99:0|1:51177113_A_G:199,0,2356:51177113	5	0	1	0
chr18	54331786	54331786	A	C	exonic	STARD6	.	stopgain	STARD6:NM_001371101:exon4:c.T164G:p.L55X,STARD6:NM_001371102:exon4:c.T164G:p.L55X,STARD6:NM_139171:exon6:c.T341G:p.L114X	.	435	1084	1	2	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0046	0.00499201	0.0011	0.0115	0.0005	0	0	4.496e-05	0.0011	0	0.0010349	160	154602	rs73958758	0.0004	0.0004	0.0005	0.0003	0.0138	0.0004	0.0003	0.0128	0.0124	0.0138	0.0008	0	0	0	0.0009	3.599e-06	0.0009	5.807e-05	0.0033	0.0033	0.0033	0.0033	0.0109	0.0031	0.0030	0.0100	0.0097	0.0109	0	0.0024	0	0	0	0	0.0001	0.0024	0	.	.	.	.	.	.	.	.	.	.	.	.	0.104240	0.19712	N	0.408406	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.344	0.38541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264817	0.79973	D	0.61701	0.97470	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant|Recessive;Tolerant|Recessive	High|High;High|High	8.241414	0.97335	37	0.98314629450067814	0.40173	0.91875	0.54452	D	AEFGI	0.040332	0.05986	N	0.717701079784443	0.80791	7.373595	0.565949114999864	0.72516	5.821909	0.723047597605223	0.22955	0.516011	0.20929	0	0.573888	0.26702	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.89	5.89	0.94758	4.723000	0.61658	10.836000	0.83891	0.731000	0.85647	0.998000	0.41325	1.000000	0.68203	0.951000	0.49849	1.0:0.0:0.0:0.0	12.697	0.56378	598	0.68232	START domain|START domain|START domain;START domain|START domain|START 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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	1280.06	33	chr18	54331786	.	A	C	1280.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.277;DP=238;ExcessHet=0.4139;FS=0.751;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.598;SOR=0.58	GT:AD:DP:GQ:PL	0/1:23,25:48:99:525,0,548	4	0	2	0
chr18	54597879	54597879	G	A	exonic	DYNAP	.	nonsynonymous SNV	DYNAP:NM_001307955:exon3:c.G211A:p.V71M,DYNAP:NM_173629:exon3:c.G289A:p.V97M	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	0.0042	0.00519169	0.0012	0.0134	0.0006	0	0	3.004e-05	0.0011	0	0.0011837	183	154602	rs146428076	0.0005	0.0005	0.0006	0.0004	0.0172	0.0004	0.0004	0.0160	0.0156	0.0172	0.0009	0	0	0	0.0009	8.995e-07	0.0009	5.799e-05	0.0042	0.0042	0.0041	0.0042	0.0141	0.0039	0.0038	0.0131	0.0127	0.0141	0	0.0026	0	0	0	0	8.822e-05	0.0024	0	0.0	0.91255	D	0.012	0.63918	D	0.999	0.77913	D	0.952	0.69102	D	0.585619	0.11100	N	0.775562	0.99546	0.24241	N	1.59	0.40313	L	1.84	0.24656	T	-1.43	0.35194	N	0.305	0.34444	-1.0689	0.09657	T	0.059	0.24686	T	10	0.0070743263	0.00161	T	.	.	.	0.071	0.20720	.	.	0.12205267543	0.11705	0.13060489021001462	0.12985	0.0981135140586	0.11074	0.373374938965	0.21315	T	0.021642	0.16816	T	-0.56753	0.00229	T	-0.576318	0.14875	T	0.0322516133934865	0.02347	T	0.765923	0.39354	T	0.33230376	0.55659	0.49657702	0.70888	0.33230376	0.55659	0.49657702	0.70889	-6.844	0.52885	T	.	.	0.200	0.42390	B	.;.;.	.;.;.	2.623445	0.34099	19.53	0.99856430236393035	0.93548	0.68583	0.33857	D	AEFGBI	0.173250	0.30032	N	0.290153387355756	0.55649	3.728867	0.237885959738538	0.51961	3.374523	2.26425059714182E-4	0.06048	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.82	3.91	0.44383	0.300000	0.18911	-0.181000	0.11132	0.676000	0.76740	0.984000	0.35821	0.000000	0.08366	0.913000	0.44837	0.0:0.0:0.8098:0.1902	10.778	0.45559	789	0.46346	CLLAC-motif containing domain;.;CLLAC-motif 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	0.001511	0.010101	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	3115.06	34	chr18	54597879	.	G	A	3115.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.09;DP=361;ExcessHet=0.4139;FS=10.629;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=0.301;SOR=1.3	GT:AD:DP:GQ:PL	0/1:54,60:114:99:1603,0,1355	4	0	2	0
chr18	63639314	63639314	C	T	exonic	SERPINB4	.	nonsynonymous SNV	SERPINB4:NM_002974:exon7:c.G639A:p.M213I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.839	0.0906222506653	.	.	1.662e-05	9.651e-05	0	0	0	0	0	6.089e-05	1.29e-05	2	154602	rs776020594	6.165e-06	6.156e-06	2.726e-06	9.639e-06	9.297e-05	2.9e-06	2.1e-06	4.588e-05	3.279e-05	2.994e-05	0	0	0	0	0	0	0	9.297e-05	1.315e-05	1.313e-05	0	2.693e-05	6.559e-05	2.19e-06	8.2e-07	.	.	2.414e-05	0	6.559e-05	0	0	0	0	0	0	0	0.002	0.72154	D	0.004	0.74150	D	0.95	0.53885	P	0.934	0.66904	D	0.000077	0.52346	D	0.000000	0.997518	0.81001	D	3.755	0.95055	H	-3.05	0.92407	D	-3.3	0.67589	D	0.781	0.77789	1.081	0.98920	D	0.917	0.97237	D	10	0.9439801	0.93722	D	0.090622	0.75552	D	0.839	0.94952	0.939	0.99156	0.556891854595	0.55349	0.7098849008676936	0.70930	0.0608350649854	0.06768	.	.	.	0.661967	0.89867	D	0.171406	0.71252	D	0.190584	0.82603	D	0.98534768819809	0.76366	D	0.89491	0.65471	D	0.66999453	0.76433	0.67619056	0.80985	0.66999453	0.76434	0.67619056	0.80985	-9.277	0.69463	D	.	.	0.944	0.87105	P	.;.	.;.	4.234629	0.64158	24.7	0.99532019134895511	0.69963	0.97910	0.78054	D	AEFGCI	0.812310	0.73507	D	0.771403923625206	0.84290	8.246716	0.598821835271193	0.74855	6.208644	0.999952024318863	0.48110	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.17	4.17	0.48303	7.574000	0.81754	5.662000	0.49222	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.076000	0.17014	0.0:1.0:0.0:0.0	16.064	0.80665	963	0.08280	Serpin domain|Serpin domain;Serpin domain|Serpin 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	.	.	.	.	.	.	.	.	0.08333	1174.83	35	chr18	63639314	.	C	T	1174.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.645;DP=288;ExcessHet=0;FS=2.483;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=-1.38;SOR=0.954	GT:AD:DP:GQ:PL	0/1:59,52:111:99:1185,0,1502	5	0	1	0
chr18	74501438	74501438	G	C	exonic	CNDP2	.	nonsynonymous SNV	CNDP2:NM_001168499:exon2:c.G170C:p.G57A,CNDP2:NM_001370248:exon3:c.G170C:p.G57A,CNDP2:NM_001370250:exon3:c.G170C:p.G57A,CNDP2:NM_018235:exon3:c.G170C:p.G57A,CNDP2:NM_001370249:exon5:c.G170C:p.G57A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.010988330968	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1389599291	1.368e-06	1.368e-06	1.361e-06	1.375e-06	8.993e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.02478	T	0.001	0.90584	B	0.001	0.92359	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.82	0.20857	L	3.26	0.70717	T	1.0	0.01408	N	0.775	0.78167	-1.0768	0.07983	T	0.032	0.13723	T	10	0.31324315	0.48777	T	0.010988	0.28145	T	0.273	0.58883	0.429	0.47680	0.806892501893	0.80508	0.822376184835706	0.82194	0.178233127683	0.20055	0.49447157979	0.38059	T	0.005751	0.33400	T	0.169852	0.71110	D	0.00620464	0.70738	D	0.332640516996921	0.26330	T	0.956104	0.86758	D	0.24766263	0.47746	0.21055056	0.45446	0.24766263	0.47746	0.21055056	0.45445	-7.654	0.58687	D	.	.	0.167	0.49509	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.774467	0.36426	20.2	0.96215953760436768	0.29069	0.99476	0.96499	D	AEFDGBIJ	0.951779	0.96665	D	0.0116040952339109	0.42383	2.552583	0.195705022761898	0.49611	3.162248	1.0	0.98316	0.706548	0.73137	0	0.685571	0.66316	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	9.858000	0.98409	11.626000	0.93661	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.271000	0.23793	0.0:0.0:1.0:0.0	19.658	0.95847	884	0.28482	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	663.83	38	chr18	74501438	.	G	C	663.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.24;DP=264;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=1.7;SOR=0.852	GT:AD:DP:GQ:PL	0/1:29,24:53:99:674,0,811	5	0	1	0
chr18	77009905	77009905	G	A	exonic	MBP	.	nonsynonymous SNV	MBP:NM_001025081:exon2:c.C199T:p.R67W,MBP:NM_002385:exon2:c.C199T:p.R67W	.	426	1090	6	0	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.0159278314198	7.7e-05	0.000798722	0.0015	0	0	0	0	0.0002	0	0.0059	0.0004528	70	154602	rs371896595	0.0003	0.0003	0.0002	0.0004	0.0036	0.0003	0.0003	0.0033	0.0032	0	2.374e-05	0	0	0	0.0018	7.44e-05	0.0005	0.0036	0.0001	0.0001	8.993e-05	0.0002	0.0021	9.141e-05	7.698e-05	0.0011	0.0009	0	0	0.0003	0	0	0	0	0.0001	0	0.0021	0.003	0.68238	D	0.002	0.79402	D	0.998	0.73220	D	0.9	0.63913	P	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	-1.6	0.38540	N	0.244	0.27554	-0.7690	0.56912	T	0.087	0.33830	T	8	0.00802061	0.00182	T	0.015928	0.36930	T	0.247	0.55478	.	.	0.0675242888579	0.06100	.	.	.	.	.	.	.	0.034	0.23104	T	-0.417368	0.01778	T	-0.374086	0.36413	T	0.164649188608182	0.18209	T	0.880812	0.59928	D	.	.	.	.	.	.	.	.	-7.337	0.57406	T	.	.	0.131	0.41903	B	.;.;.	.;.;.	1.550014	0.19867	14.48	0.94398394232858274	0.24786	0.24218	0.22325	N	AEFDBCI	0.264710	0.38199	N	-0.376129592327675	0.26322	1.435683	-0.511468852530715	0.21841	1.183481	0.999905535769677	0.45458	0.498214	0.20090	0	0.572659	0.20510	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.75	-6.84	0.01527	-1.231000	0.03049	-0.039000	0.12693	0.608000	0.46601	0.731000	0.28933	0.887000	0.27779	0.996000	0.76049	0.1108:0.2074:0.5119:0.17	3.835	0.08400	847	0.35998	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001545	0.000000	0.001374	0.002976	0.000000	0.000000	0.000000	0.003817	0.08333	305.83	37	chr18	77009905	.	G	A	305.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.13;DP=198;ExcessHet=0;FS=1.697;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=0.904;SOR=1.402	GT:AD:DP:GQ:PL	0/1:14,11:25:99:316,0,325	5	0	1	0
chr19	440874	440874	G	A	exonic	SHC2	.	nonsynonymous SNV	SHC2:NM_012435:exon2:c.C527T:p.T176M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356	0.102397212717	0.0002	0.000399361	0.0006	0.0001	0.0007	0.0001	0.0002	0.0008	0	0	0.0005239	81	154602	rs199803042	0.0003	0.0003	0.0003	0.0003	0.0009	0.0003	0.0003	0.0003	0.0003	8.961e-05	0.0003	3.827e-05	0.0003	3.825e-05	0.0009	0.0004	0.0003	6.956e-05	0.0004	0.0004	0.0004	0.0003	0.0007	0.0003	0.0003	0.0005	0.0005	7.216e-05	0	0.0003	0	0	0.0002	0	0.0007	0.0009	0	0.025	0.47320	D	0.022	0.57587	D	0.975	0.58077	D	0.92	0.65550	D	0.000000	0.84330	D	0.000000	0.999989	0.54805	D	2.16	0.60381	M	2.27	0.17431	T	-5.09	0.82961	D	0.839	0.83473	-0.8221	0.53802	T	0.127	0.43380	T	10	0.5746636	0.65512	D	0.102397	0.77584	D	0.356	0.67691	.	.	0.694901579572	0.69227	0.25348217820197827	0.25262	0.419145018288	0.42472	0.792727351189	0.80857	T	0.46907	0.80275	T	-0.29354	0.09284	T	-0.282373	0.46561	T	0.16927861649253	0.18531	T	0.963304	0.86380	D	0.4058032	0.61133	0.25933117	0.51680	0.4058032	0.61133	0.25933117	0.51679	-9.12	0.68466	D	.	.	0.503	0.64704	A	.	.	4.559010	0.71827	25.7	0.9986843475940671	0.94637	0.97620	0.75953	D	AEFDBI	0.926699	0.90822	D	0.565746951007501	0.71047	5.591759	0.390716392838105	0.60992	4.293235	0.999999817705306	0.74766	0.695654	0.57023	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	3.2	3.2	0.35826	9.339000	0.96442	11.316000	0.92519	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.371000	0.26133	0.0:0.0:1.0:0.0	12.669	0.56222	988	0.01987	PTB/PI domain|Phosphotyrosine interaction  domain, Shc-like|PTB/PI domain|PTB/PI domain|Phosphotyrosine interaction  domain, Shc-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1028.83	34	chr19	440874	.	G	A	1028.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.682;DP=232;ExcessHet=0;FS=2.289;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.59;ReadPosRankSum=1.53;SOR=0.374	GT:AD:DP:GQ:PL	0/1:21,41:62:99:1039,0,430	5	0	1	0
chr19	578038	578038	G	A	exonic	BSG	.	nonsynonymous SNV	BSG:NM_001728:exon2:c.G332A:p.S111N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.227855229749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.034	0.52727	D	1.0	0.90584	D	0.999	0.92359	D	0.000063	0.52346	U	0.131572	0.923072	0.81001	D	1.94	0.52218	M	-0.3	0.67874	T	-1.96	0.45404	N	0.628	0.64223	-0.3528	0.73472	T	0.421	0.76616	T	10	0.68514407	0.71516	D	0.227855	0.88111	D	0.238	0.54217	0.37	0.38013	0.591935788922	0.58870	0.3360441568770907	0.33517	0.629556986367	0.56987	0.685029149055	0.64991	T	0.226696	0.59179	T	-0.0942771	0.37369	T	-0.373199	0.36516	T	0.949046730995178	0.63027	D	0.647535	0.25853	T	0.6619053	0.76001	0.43346393	0.66898	0.6619053	0.76002	0.43346393	0.66898	-10.247	0.75377	D	.	.	0.926	0.84705	P	.	.	4.601714	0.72891	25.9	0.99474481516006696	0.66525	0.80196	0.39898	D	AEFBCI	0.359090	0.44954	N	0.378627781898117	0.60265	4.213627	0.241043926269915	0.52140	3.391017	0.999968810575076	0.48965	0.729952	0.87565	0	0.552637	0.17590	0	0.877121	0.99996	0	0.491896	0.07777	0	.	.	2.86	1.79	0.23992	4.436000	0.59691	5.320000	0.48288	0.670000	0.69193	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.1193:0.0:0.8807:0.0	8.784	0.33968	994	0.00715	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1409.83	37	chr19	578038	.	G	A	1409.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.315;DP=285;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=0.999;SOR=0.757	GT:AD:DP:GQ:PL	0/1:42,58:100:99:1420,0,1006	5	0	1	0
chr19	3808938	3808938	G	T	exonic	ZFR2	.	nonsynonymous SNV	ZFR2:NM_015174:exon17:c.C2479A:p.P827T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.0419862557137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.047e-07	6.156e-06	1.396e-06	0	9.15e-07	0	0	.	.	0	0	0	0	0	0	9.15e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.013	0.63109	D	0.994	0.66517	D	0.934	0.66904	D	0.000179	0.48594	U	0.084158	0.999715	0.48481	D	2.775	0.80997	M	0.96	0.42888	T	-6.62	0.92128	D	0.396	0.43706	-0.6450	0.62931	T	0.243	0.61177	T	10	0.5302397	0.63142	D	0.041986	0.60223	D	0.304	0.62510	0.554	0.67133	0.603797353847	0.60063	0.3232866154661441	0.32241	0.362057876894	0.37861	0.441840708256	0.30829	T	0.133	0.46326	T	-0.117687	0.33503	T	-0.406825	0.32592	T	0.938236398985911	0.60868	D	0.942406	0.78384	D	0.4715168	0.65383	0.3687828	0.62161	0.4715168	0.65384	0.3687828	0.62161	-6.658	0.51493	T	.	.	0.106	0.19679	B	.	.	3.836479	0.55490	23.6	0.99648881262907019	0.77130	0.96248	0.68218	D	AEFDBI	0.584114	0.58307	D	0.439561961972132	0.63614	4.598505	0.294119167969843	0.55195	3.682801	0.994698522740809	0.33757	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	3.97	3.97	0.45241	4.183000	0.58114	1.800000	0.28874	0.613000	0.49114	0.998000	0.41325	0.972000	0.29809	0.014000	0.10232	0.0:0.0:1.0:0.0	11.396	0.49086	982	0.03397	DZF domain|DZF domain|DZF domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	353.83	21	chr19	3808938	.	G	T	353.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.391;DP=180;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=-0.754;SOR=0.941	GT:AD:DP:GQ:PL	0/1:16,16:32:99:364,0,372	5	0	1	0
chr19	5455948	5455948	C	T	exonic	ZNRF4	.	nonsynonymous SNV	ZNRF4:NM_181710:exon1:c.C457T:p.R153C	.	433	1082	7	0	0	7	0.00322432	.	.	.	2383847	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.016	0.00961003748237	.	.	1.723e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs771662701	5.523e-06	9.577e-06	2.749e-06	8.322e-06	0.0002	2.38e-06	1.72e-06	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	4.499e-06	0	2.32e-05	1.969e-05	1.968e-05	2.569e-05	1.342e-05	0.0002	5.23e-06	2.45e-06	.	.	2.404e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	0.133	0.26409	T	0.209	0.26798	T	0.003	0.11197	B	0.002	0.06944	B	0.985923	0.08063	U	0.992853	1	0.08975	N	0	0.06538	N	3.52	0.04905	T	-1.28	0.32185	N	0.144	0.14480	-0.9214	0.45362	T	0.006	0.02018	T	10	0.047257245	0.04021	T	0.00961	0.25130	T	0.016	0.02506	0.605	0.73706	0.0297737177859	0.01360	0.7708474388891755	0.77033	0.327880304235	0.34911	0.290679395199	0.09021	T	0.001984	0.01394	T	-0.426613	0.01554	T	-0.669048	0.07669	T	0.0885854307122646	0.11048	T	0.485551	0.14815	T	0.048785236	0.08559	0.062438615	0.12215	0.048785236	0.08559	0.062438615	0.12215	-5.631	0.43075	T	.	.	0.136	0.29724	B	.	.	1.357234	0.17655	13.29	0.94592335339102152	0.25145	0.01837	0.05695	N	AEFDBI	0.070172	0.13920	N	-1.53996522664564	0.01594	0.06965621	-1.57984028576803	0.01778	0.08094705	0.0413599687104784	0.14480	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.65	-7.22	0.01335	-0.531000	0.06259	-1.202000	0.06038	-0.409000	0.05269	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.1865:0.2961:0.4193:0.0981	3.817	0.08334	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	3686.06	82	chr19	5455948	.	C	T	3686.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.33;DP=528;ExcessHet=0.4139;FS=0.972;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=2.02;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,56:115:99:0|1:5455948_C_T:1403,0,2215:5455948	4	0	2	0
chr19	5783675	5783675	T	G	exonic	PRR22	.	nonsynonymous SNV	PRR22:NM_001134316:exon3:c.A572C:p.N191T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00206170625213	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1170020122	3.484e-06	2.079e-05	1.713e-06	5.315e-06	4.483e-06	8.2e-07	5.5e-07	1.05e-06	7.1e-07	0	0	0	0	0	0	4.483e-06	0	0	1.407e-05	1.371e-05	1.366e-05	1.449e-05	3.095e-05	2.34e-06	8.8e-07	5.13e-06	1.92e-06	0	0	0	0	0	0	0	3.095e-05	0	0	0.596	0.05703	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.67	0.42885	L	2.15	0.19311	T	-2.24	0.50175	N	0.075	0.04913	-0.9634	0.38527	T	0.019	0.08079	T	9	0.039610833	0.02465	T	0.002062	0.03775	T	0.022	0.04323	.	.	0.0138822411134	0.00435	0.0599943241304356	0.05939	0.0460182427998	0.04998	0.466051697731	0.34140	T	0.022376	0.17263	T	-0.365517	0.03828	T	-0.762817	0.03012	T	0.0393637083041077	0.03575	T	0.262274	0.04237	T	0.04746145	0.08114	0.04834794	0.07162	0.04746145	0.08114	0.04834794	0.07161	-1.546	0.01861	T	.	.	0.120	0.24633	B	.	.	0.452260	0.08223	4.962	0.59860503523206099	0.06324	0.08997	0.14839	N	AEFDBCI	0.104676	0.20938	N	-1.62146726620318	0.01161	0.05046319	-1.72549164736227	0.01029	0.04616666	0.97749597063252	0.29827	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.645665	0.59343	0	.	.	3.45	-6.9	0.01496	-1.764000	0.01898	-1.336000	0.05684	-0.194000	0.09177	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.3603:0.3677:0.2719	5.885	0.18123	963	0.08280	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	190.83	43	chr19	5783675	.	T	G	190.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.77;DP=129;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=0.201;SOR=1.112	GT:AD:DP:GQ:PL	0/1:11,6:17:99:201,0,270	5	0	1	0
chr19	6734221	6734221	G	A	exonic	GPR108	.	nonsynonymous SNV	GPR108:NM_001080452:exon5:c.C461T:p.P154L	.	410	1101	10	0	1	11	0.0045208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	.	0.0048	0.00419329	0.0038	0.0009	0.0022	0.0003	0.0009	0.0046	0	0.0067	0.0040232	622	154602	rs139348331	0.0063	0.0063	0.0064	0.0062	0.0072	0.0062	0.0061	0.0071	0.0071	0.0009	0.0021	0.0001	7.557e-05	0.0011	0.0043	0.0072	0.0058	0.0065	0.0037	0.0037	0.0038	0.0035	0.0073	0.0034	0.0033	0.0054	0.0052	0.0012	0.0055	0.0032	0	0.0008	0.0009	0.0034	0.0059	0.0019	0.0073	0.22	0.18956	T	0.158	0.31629	T	0.894	0.49185	P	0.258	0.39350	B	0.853454	0.07072	U	1.085260	0.999493	0.47278	D	2.05	0.56469	M	1.93	0.22881	T	-1.02	0.26843	N	0.337	0.37820	-0.9572	0.39699	T	0.049	0.20868	T	10	0.00436759	0.00089	T	.	.	.	0.079	0.23065	.	.	0.484182897458	0.48051	0.26909468916475454	0.26822	0.233007264821	0.25837	0.354487329721	0.18580	T	0.012394	0.10902	T	-0.496014	0.00602	T	-0.481819	0.24253	T	0.0128035230507367	0.00218	T	0.663934	0.27277	T	0.036734853	0.04575	0.046493825	0.06491	0.036734853	0.04575	0.046493825	0.06491	-4.569	0.31779	T	.	.	0.074	0.05231	B	.	.	1.745668	0.22210	15.53	0.99745819510724698	0.83852	0.62166	0.31700	D	ALL	0.044639	0.07208	N	-0.107655233281546	0.37058	2.150687	-0.209886074529591	0.31180	1.762182	0.999999999976254	0.74766	0.643511	0.44296	0	0.643519	0.57511	0	0.688494	0.62686	0	0.591603	0.36755	0	.	.	3.05	3.05	0.34272	1.814000	0.38610	0.852000	0.22147	0.662000	0.56354	0.972000	0.34453	0.348000	0.24457	0.028000	0.12845	0.0:0.0:1.0:0.0	9.814	0.40010	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	0.003525	0.005051	0.001359	0.000000	0.050000	0.017241	0.003049	0.003788	0.08333	733.83	40	chr19	6734221	.	G	A	733.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.16;DP=275;ExcessHet=0;FS=1.974;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.25;ReadPosRankSum=1.31;SOR=0.45	GT:AD:DP:GQ:PL	0/1:60,29:89:99:744,0,1623	5	0	1	0
chr19	6734281	6734281	T	C	exonic	GPR108	.	nonsynonymous SNV	GPR108:NM_001080452:exon5:c.A401G:p.Q134R	.	406	1106	9	1	0	11	0.00494827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	.	0.0049	0.00419329	0.0039	0.0011	0.0023	0.0004	0.0010	0.0047	0	0.0068	0.0040038	619	154602	rs144129725	0.0063	0.0063	0.0064	0.0062	0.0072	0.0062	0.0061	0.0071	0.0070	0.0010	0.0021	0.0001	7.557e-05	0.0011	0.0042	0.0072	0.0058	0.0065	0.0037	0.0037	0.0038	0.0035	0.0075	0.0034	0.0033	0.0055	0.0052	0.0013	0.0055	0.0032	0	0.0008	0.0009	0.0034	0.0059	0.0019	0.0075	0.495	0.07870	T	0.493	0.11443	T	0.941	0.52883	P	0.413	0.44885	B	0.734258	0.09829	U	0.828605	1	0.81001	D	2.48	0.72069	M	1.88	0.23884	T	-1.57	0.37955	N	0.454	0.49146	-1.0682	0.09813	T	0.050	0.21261	T	10	0.0070121586	0.00160	T	.	.	.	0.100	0.28662	.	.	0.390687800842	0.38684	0.6046379522053114	0.60394	0.247364135573	0.27283	0.458822876215	0.33148	T	0.040168	0.25436	T	-0.533994	0.00364	T	-0.536514	0.18641	T	0.0191371003437567	0.00621	T	0.70113	0.31087	T	0.11732288	0.27659	0.08351023	0.19142	0.11732288	0.27659	0.08351023	0.19142	-3.365	0.14589	T	.	.	0.242	0.47622	B	.	.	2.495277	0.32200	18.97	0.99421346354934392	0.63790	0.75056	0.36733	D	AEFDGBHCI	0.103538	0.20740	N	0.0426731223370819	0.43806	2.666421	-0.00611738651292093	0.39437	2.33837	0.999999999913197	0.74766	0.643511	0.44296	0	0.643519	0.57511	0	0.688494	0.62686	0	0.591603	0.36755	0	.	.	3.92	3.92	0.44525	1.011000	0.29513	4.645000	0.44172	-0.123000	0.13640	0.986000	0.36153	1.000000	0.68203	0.016000	0.10718	0.0:0.0:0.0:1.0	9.065	0.35621	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	0.003024	0.005051	0.002717	0.000000	0.000000	0.017241	0.003067	0.000000	0.08333	481.83	40	chr19	6734281	.	T	C	481.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.17;DP=246;ExcessHet=0;FS=2.337;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.9;ReadPosRankSum=0.214;SOR=0.409	GT:AD:DP:GQ:PL	0/1:37,24:61:99:492,0,1093	5	0	1	0
chr19	7019288	7019288	G	A	exonic	MBD3L2B	.	nonsynonymous SNV	MBD3L2B:NM_001364674:exon2:c.C488T:p.P163L	.	483	1003	32	4	0	40	0.0195503	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	.	0.00658946	0.0150	0.0012	0.0115	0.0065	0	0.0128	0.0114	0.0197	0.0019728	305	154602	rs377522880	0.0050	0.0045	0.0038	0.0059	0.0179	0.0048	0.0048	0.0170	0.0166	0.0006	0.0020	0.0244	0.0016	9.31e-05	0.0097	0.0025	0.0068	0.0179	0.0028	0.0029	0.0025	0.0031	0.0178	0.0025	0.0025	0.0146	0.0134	0.0003	0	0.0045	0.0260	0.0039	9.854e-05	0.0034	0.0020	0.0045	0.0178	.	.	.	.	.	.	.	.	.	.	.	.	0.117193	0.02692	N	2.156950	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-1.0059	0.28186	T	0.081	0.31854	T	6	0.004792005	0.00101	T	.	.	.	.	.	.	.	.	.	0.31987110972752	0.31900	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.454655	0.12977	T	0.04363344	0.06835	0.07398557	0.16137	0.04363344	0.06834	0.07398557	0.16137	-3.597	0.17813	T	.	.	0.086	0.10739	B	.;.	.;.	0.840878	0.12126	8.677	0.513626325724442	0.04549	0.00220	0.01242	N	AEFBI	.	.	.	-0.808078894078884	0.13103	0.6432139	-1.05272047173043	0.08650	0.4263698	1.99783207891912E-5	0.02871	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0429863	0.02266	2.25	-4.51	0.03237	-0.349000	0.07779	-4.649000	0.02051	0.489000	0.22316	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2104:0.0:0.3435:0.4461	3.179	0.06185	964	0.07719	Methyl-CpG binding protein 2/3, C-terminal domain;Methyl-CpG binding protein 2/3, C-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	252.36	11	chr19	7019288	.	G	A	252.36	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.366;DP=45;ExcessHet=0.4139;FS=2.246;MLEAC=2;MLEAF=0.167;MQ=43.58;MQRankSum=0.14;QD=15.77;ReadPosRankSum=1.67;SOR=1.714	GT:AD:DP:GQ:PL	0/1:5,4:9:99:108,0,164	4	0	2	0
chr19	7032755	7032755	C	T	exonic	MBD3L5	.	nonsynonymous SNV	MBD3L5:NM_001136507:exon2:c.C488T:p.P163L	.	939	570	12	1	0	14	0.0121317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00362205767171	.	.	0.0018	0	0	0	0	0.0030	0	0.0012	6.5e-06	1	154602	rs775760035	0.0031	0.0022	0.0024	0.0037	0.0104	0.0029	0.0029	0.0096	0.0093	0.0003	0.0013	0.0111	0.0003	0	0.0096	0.0020	0.0035	0.0104	0.0023	0.0014	0.0017	0.0030	0.0157	0.0019	0.0017	0.0078	0.0057	0	0	0.0030	0.0225	0	0	0.0128	0.0018	0.0031	0.0157	0.079	0.33753	T	0.048	0.48594	D	0.008	0.14655	B	0.008	0.13708	B	0.117193	0.02692	N	2.156950	0.999999	0.08975	N	0.695	0.17993	N	.	.	.	-2.02	0.46503	N	0.218	0.24385	-1.0373	0.18140	T	0.088	0.33968	T	9	0.004570663	0.00095	T	0.003622	0.08309	T	0.032	0.07718	0.342	0.33464	0.0551355673512	0.04727	0.39057892685247886	0.38972	.	.	0.436823695898	0.30144	T	0.039963	0.25369	T	-0.559425	0.00256	T	-0.568533	0.15585	T	0.00697805741738573	0.00079	T	0.454655	0.12977	T	0.050567735	0.09154	0.048343748	0.07162	0.050567735	0.09154	0.048343748	0.07161	-3.6	0.17857	T	.	.	0.076	0.06114	B	.	.	0.715101	0.10842	7.519	0.43210924728789046	0.03238	0.00115	0.00727	N	AEFI	0.020338	0.00793	N	-1.33596277550651	0.03273	0.1459117	-1.50080691978968	0.02339	0.1074006	9.90148809100885E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.65	-3.3	0.04692	-0.491000	0.06555	-2.587000	0.03577	0.401000	0.20554	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3034:0.4941:0.0:0.2025	3.650	0.07736	964	0.07719	Methyl-CpG binding protein 2/3, C-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011299	0.000000	0.000000	0.016667	0.000000	0.000000	0.046875	0.000000	0.2	279.46	4	chr19	7032755	.	C	T	279.46	.	AC=2;AF=0.2;AN=10;BaseQRankSum=2.66;DP=28;ExcessHet=0.5115;FS=4.26;MLEAC=2;MLEAF=0.2;MQ=31.32;MQRankSum=-0.262;QD=17.47;ReadPosRankSum=0.231;SOR=2.67	GT:AD:DP:GQ:PL	0/1:1,6:7:20:197,0,20	3	0	2	1
chr19	8813136	8813136	T	G	exonic	ZNF558	.	nonsynonymous SNV	ZNF558:NM_001304350:exon3:c.A121C:p.T41P,ZNF558:NM_144693:exon8:c.A334C:p.T112P	.	430	1078	13	1	0	15	0.00690926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0019	0.00139776	0.0065	0.0004	0.0108	0	0	0.0110	0.0140	0.0021	0.0028137	435	154602	rs61745089	0.0026	0.0026	0.0026	0.0026	0.0103	0.0025	0.0025	0.0082	0.0074	0.0004	0.0026	0.0346	0	0.0001	0.0103	0.0020	0.0053	0.0014	0.0026	0.0026	0.0028	0.0024	0.0053	0.0024	0.0023	0.0044	0.0040	0.0004	0	0.0053	0.0349	0	9.43e-05	0.0170	0.0022	0.0076	0.0012	0.211	0.19569	T	0.261	0.22962	T	0.001	0.07471	B	0.001	0.04355	B	0.548881	0.11457	N	0.712043	1	0.08975	N	0.7	0.18542	N	3.29	0.06445	T	-1.97	0.45587	N	0.095	0.09349	-0.9355	0.43318	T	0.010	0.03537	T	10	0.0049788654	0.00107	T	.	.	.	0.009	0.00846	.	.	0.0551355673512	0.04727	0.4434731397212186	0.44265	0.259224279476	0.28482	0.265417158604	0.05552	T	0.029155	0.20955	T	-0.67211	0.00053	T	-0.737812	0.03984	T	0.0015984344054372	0.00016	T	9.73128E-5	0.00000	T	0.14202425	0.32702	0.08483872	0.19547	0.14202425	0.32701	0.08483872	0.19547	-0.735	0.00748	T	.	.	0.065	0.01810	B	.;.	.;.	0.735706	0.11051	7.704	0.39315862816394936	0.02705	0.04976	0.10745	N	AEFBI	0.080046	0.16178	N	-1.18259583298992	0.05263	0.2395078	-1.19635402717445	0.05970	0.2860118	1.5385123730191E-5	0.02871	0.732398	0.92422	0	0.670034	0.63936	0	0.743671	0.96076	0	0.564101	0.26826	0	.	.	3.96	1.8	0.24069	0.035000	0.13685	.	.	-0.194000	0.09177	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.1117:0.212:0.6764	4.053	0.09285	923	0.18507	Krueppel-associated box;Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013623	0.035354	0.017711	0.008772	0.000000	0.008621	0.006135	0.003788	0.08333	860.83	33	chr19	8813136	.	T	G	860.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.97;DP=236;ExcessHet=0;FS=3.511;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=2.26;SOR=0.346	GT:AD:DP:GQ:PL	0/1:31,32:63:99:871,0,756	5	0	1	0
chr19	8888803	8888803	G	A	exonic	MUC16	.	stopgain	MUC16:NM_024690:exon56:c.C40696T:p.Q13566X	.	387	1065	65	0	5	70	0.0296128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs749709179	2.751e-06	0.0003	1.368e-06	4.147e-06	2.346e-05	6.4e-07	4.3e-07	3.89e-06	1.46e-06	0	0	0	0	1.892e-05	0	9.032e-07	0	2.346e-05	0.0003	0.0078	0.0003	0.0003	0.0007	0.0003	0.0002	0.0003	0.0002	0.0004	0	0.0002	0.0003	0.0006	0.0003	0	0.0003	0.0015	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.853	0.84922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382006	0.88838	D	0.310949	0.88697	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.510432	0.97656	37	0.99651539778950882	0.77317	0.04167	0.09661	N	AEFDBI	0.050545	0.08845	N	0.108967690324694	0.46882	2.921777	-0.235756191989301	0.30265	1.702583	7.40119793528929E-5	0.04552	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.01	0.19044	-1.404000	0.02601	.	.	-0.183000	0.09960	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.0:0.5377:0.4623	7.596	0.27215	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	136.52	375	chr19	8888803	.	G	A	136.52	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.288;DP=2122;ExcessHet=0;FS=1.962;MLEAC=1;MLEAF=0.083;MQ=56.94;MQRankSum=-4.557;QD=0.52;ReadPosRankSum=0.43;SOR=0.449	GT:AD:DP:GQ:PL	0/1:230,32:262:99:146,0,8748	5	0	1	0
chr19	8888826	8888826	T	0	exonic	MUC16	.	.	.	.	415	770	176	0	161	337	0.102564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	30.01	327	chr19	8888826	.	T	*	30.01	.	AC=5;AF=0.417;AN=12;BaseQRankSum=2.99;DP=1785;ExcessHet=11.5949;FS=9.468;MLEAC=5;MLEAF=0.417;MQ=57.66;MQRankSum=-5.836;QD=0.02;ReadPosRankSum=1.12;SOR=1.363	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,36:197:99:0|1:8888826_T_*:1121,0,5637:8888826	1	0	5	0
chr19	8906323	8906323	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.C37996T:p.P12666S	.	428	1055	38	1	0	40	0.0186047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00247585488613	.	.	1.687e-05	0.0001	8.658e-05	0	0	0	0	0	1.29e-05	2	154602	rs762490369	1.713e-05	5.336e-05	1.772e-05	1.653e-05	2.52e-05	1.176e-05	9.94e-06	1.379e-05	1.152e-05	0	2.245e-05	0	2.52e-05	0	0	2.071e-05	0	0	4.24e-05	0.0059	4.138e-05	4.346e-05	0.0001	1.822e-05	1.199e-05	3.556e-05	2.154e-05	0.0001	0	0	0	0	0	0	3.104e-05	0	0	0.261	0.16520	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.52	0.01997	T	0.2	0.04861	N	0.092	0.07125	-0.9233	0.45098	T	0.002	0.00676	T	8	0.057982862	0.06746	T	0.002476	0.04896	T	0.027	0.05988	0.184	0.09259	0.0297737177859	0.01360	0.08237352206848209	0.08172	.	.	0.263990014791	0.05375	T	.	.	.	-0.536376	0.00352	T	-0.839115	0.01112	T	0.0242580187876096	0.01178	T	0.180682	0.01803	T	.	.	.	.	.	.	.	.	0.883	0.00148	T	.	.	0.076	0.06069	B	.	.	0.362648	0.07355	3.971	0.31856550423288121	0.01817	0.00006	0.00120	N	AEFBI	0.009687	0.00059	N	-1.5920726816332	0.01304	0.05680634	-1.57521878403105	0.01808	0.08232029	9.67824463248396E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	0.419	0.15657	-0.191000	0.09598	.	.	-0.953000	0.02023	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.562:0.0:0.438:0.0	4.268	0.10218	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	45.83	96	chr19	8906323	.	G	A	45.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.804;DP=375;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=58.45;MQRankSum=-9.193;QD=0.53;ReadPosRankSum=-2.946;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,7:86:56:0|1:8906306_G_A:56,0,3296:8906306	5	0	1	0
chr19	8906325	8906325	A	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.T37994G:p.I12665S	.	429	1045	47	1	0	49	0.0229079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0038760848155	.	.	.	.	.	.	.	.	.	.	.	.	.	rs759086518	0	3.625e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	4.251e-05	0.0063	4.15e-05	4.357e-05	0.0002	1.826e-05	1.202e-05	3.56e-05	2.156e-05	0.0001	0	0	0	0.0002	0	0	1.556e-05	0	0	0.826	0.02913	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.5	0.02032	T	0.44	0.03243	N	0.074	0.04790	-0.8304	0.53276	T	0.002	0.00738	T	8	0.04098645	0.02714	T	0.003876	0.09086	T	0.018	0.03083	0.31	0.28289	0.170165803431	0.16609	0.11517879774076815	0.11445	.	.	0.232001110911	0.02120	T	.	.	.	-0.408333	0.02040	T	-0.824318	0.01367	T	0.0416706942861189	0.03995	T	0.152385	0.01298	T	.	.	.	.	.	.	.	.	0.068	0.00326	T	.	.	0.085	0.10400	B	.	.	-0.401111	0.02208	0.221	0.45356006519564063	0.03554	0.00037	0.00318	N	AEFBI	0.009398	0.00054	N	-2.70207499388071	0.00005	0.0002332206	-2.71802947991178	0.00007	0.000320448	0.0912899574800445	0.16130	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	-2.96	0.05212	-5.644000	0.00129	.	.	-4.429000	0.00030	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1528:0.3792:0.4679:0.0	7.234	0.25234	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	42.83	117	chr19	8906325	.	A	C	42.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.852;DP=397;ExcessHet=0;FS=3.943;MLEAC=1;MLEAF=0.083;MQ=58.82;MQRankSum=-9.247;QD=0.49;ReadPosRankSum=-2.384;SOR=0.792	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,7:87:53:0|1:8906306_G_A:53,0,3338:8906306	5	0	1	0
chr19	8906329	8906329	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.T37990C:p.W12664R	.	426	1037	58	1	0	60	0.0281162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00123485330843	.	.	1.69e-05	0.0001	8.66e-05	0	0	0	0	0	3.84e-05	1	26028	rs752664873	1.713e-05	7.251e-05	1.909e-05	1.516e-05	2.52e-05	1.176e-05	9.94e-06	1.379e-05	1.152e-05	0	2.246e-05	0	2.52e-05	0	0	2.071e-05	0	0	9.122e-05	0.0074	9.589e-05	8.632e-05	0.0002	5.38e-05	4.211e-05	6.784e-05	4.563e-05	0.0002	0	0	0	0.0002	0.0001	0	7.725e-05	0	0	1.0	0.00964	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.56	0.29602	T	1.73	0.00557	N	0.164	0.17278	-1.0123	0.26196	T	0.021	0.08917	T	8	0.05845517	0.06874	T	0.001235	0.01633	T	0.022	0.04323	0.511	0.60846	0.0666544352282	0.05500	0.12290162140986033	0.12216	.	.	0.17153711617	0.00038	T	.	.	.	-0.364945	0.03858	T	-0.761995	0.03041	T	0.0350373052446737	0.02814	T	0.0657934	0.00479	T	.	.	.	.	.	.	.	.	0.629	0.00188	T	.	.	0.081	0.08417	B	.	.	0.120328	0.05179	1.696	0.50828146212189185	0.04453	0.00012	0.00170	N	AEFBI	0.011720	0.00110	N	-2.20480432650005	0.00075	0.003199722	-2.24327977203405	0.00089	0.003930338	8.9415780060643E-4	0.07974	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	-2.96	0.05212	-1.082000	0.03510	.	.	-6.395000	0.00004	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5741:0.0:0.2467:0.1792	4.013	0.09120	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	70.64	123	chr19	8906329	.	A	G	70.64	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.926;DP=470;ExcessHet=1.383;FS=11.04;MLEAC=2;MLEAF=0.167;MQ=58.83;MQRankSum=-9.356;QD=0.23;ReadPosRankSum=-2.796;SOR=1.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,7:89:47:0|1:8906306_G_A:47,0,3422:8906306	3	0	3	0
chr19	8980661	8980661	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon1:c.G478A:p.E160K	.	425	1081	14	2	0	18	0.00825688	.	.	.	2811540	not_provided|MUC16-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.044	0.00116858358726	0.0002	0.000998403	0.0006	0	0.0003	0	0	0.0006	0.0022	0.0021	0.0005757	89	154602	rs199922056	0.0004	0.0004	0.0003	0.0005	0.0028	0.0004	0.0004	0.0018	0.0017	5.974e-05	0.0002	0.0001	0	3.745e-05	0.0028	0.0003	0.0006	0.0021	0.0004	0.0004	0.0004	0.0003	0.0035	0.0003	0.0003	0.0022	0.0018	0	0	0.0002	0	0	9.418e-05	0.0034	0.0005	0.0014	0.0035	0.0	0.91255	D	0.043	0.49942	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	4.2	0.02689	T	-0.96	0.25551	N	0.169	0.17966	-0.9043	0.47527	T	0.005	0.01542	T	8	0.00674057	0.00153	T	0.001169	0.01484	T	0.044	0.11924	.	.	0.0954503805726	0.09146	0.030180406335303812	0.02967	.	.	0.244207590818	0.03182	T	.	.	.	-0.605182	0.00135	T	-0.648246	0.09077	T	0.0294080645876312	0.01900	T	0.349965	0.07784	T	.	.	.	.	.	.	.	.	-3.992	0.23683	T	.	.	0.167	0.36752	B	.	.	0.808876	0.11799	8.369	0.68935291730639947	0.08813	0.00985	0.03747	N	AEFBI	0.025679	0.01801	N	-0.825848555266625	0.12652	0.6180644	-1.00220392878279	0.09737	0.4861658	9.33931258287073E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.38	0.204	0.14476	-0.559000	0.06062	.	.	0.333000	0.19617	0.000000	0.06391	0.000000	0.08366	0.146000	0.20164	0.3722:0.6278:0.0:0.0	4.622	0.11842	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	957.83	43	chr19	8980661	.	C	T	957.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.131;DP=328;ExcessHet=0;FS=5.305;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=-1.617;SOR=0.962	GT:AD:DP:GQ:PL	0/1:61,36:97:99:968,0,1683	5	0	1	0
chr19	10323150	10323150	T	A	exonic	RAVER1	.	nonsynonymous SNV	RAVER1:NM_001366174:exon5:c.A1073T:p.K358M,RAVER1:NM_133452:exon5:c.A1073T:p.K358M	.	403	1117	2	0	0	2	0.000894454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.0585700262778	.	0.000199681	0.0001	0	0	0	0	7.657e-05	0	0.0005	7.12e-05	11	154602	rs561793507	0.0001	0.0001	0.0001	0.0001	0.0004	9.52e-05	8.996e-05	0.0003	0.0003	3.024e-05	0.0002	0	0	1.909e-05	0.0002	9.424e-05	0.0001	0.0004	0.0001	0.0001	0.0002	8.063e-05	0.0006	7.576e-05	6.281e-05	0.0003	0.0002	0	0	0.0005	0	0	0	0	0.0001	0	0.0006	0.002	0.72154	D	0.085	0.41074	T	0.998	0.73220	D	0.936	0.67150	D	0.000169	0.48594	D	0.129534	0.999931	0.51612	D	2.35	0.67516	M	2.56	0.13673	T	-2.58	0.55662	D	0.648	0.69213	-1.1532	0.00933	T	0.063	0.26029	T	10	0.2588604	0.43317	T	0.05857	0.67365	D	0.237	0.54074	0.308	0.27967	0.303871581278	0.30001	0.716485646877681	0.71591	0.59830580156	0.55004	0.620693564415	0.55827	T	0.067965	0.84895	T	-0.231066	0.16508	T	-0.206654	0.54014	T	0.317719012498856	0.25729	T	0.888511	0.61827	D	0.34763387	0.56882	0.22424598	0.47330	0.34763387	0.56882	0.22424598	0.47329	-3.457	0.15835	T	.	.	0.585	0.71925	P	.;.;.;.	.;.;.;.	4.266931	0.64895	24.8	0.99537014583397143	0.70274	0.98507	0.83514	D	AEFDBCI	0.791214	0.71988	D	0.462825968247866	0.64936	4.759553	0.437624650443546	0.63927	4.636452	0.999810418532021	0.43459	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	4.98	4.98	0.65679	4.103000	0.57517	7.839000	0.70444	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.485000	0.28678	0.0:0.0:0.0:1.0	12.620	0.55958	721	0.55360	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	590.83	33	chr19	10323150	.	T	A	590.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.942;DP=201;ExcessHet=0;FS=6.635;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-0.706;SOR=0.178	GT:AD:DP:GQ:PL	0/1:21,25:46:99:601,0,567	5	0	1	0
chr19	11555208	11555208	G	T	exonic	ELOF1	.	nonsynonymous SNV	ELOF1:NM_001363673:exon2:c.C11A:p.S4Y,ELOF1:NM_001363674:exon2:c.C11A:p.S4Y,ELOF1:NM_001363675:exon3:c.C11A:p.S4Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00253127043872	.	.	0.0007	0	0	0	.	0	0	0.0010	1.29e-05	2	154602	rs770322535	1.534e-05	1.272e-05	4.055e-05	0	5.685e-05	0	0	.	.	0	0	0	0	0	0	0	0	5.685e-05	7.235e-06	7.01e-06	0	1.523e-05	1.508e-05	0	0	.	.	0	0	0	0	0	0	0	1.508e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.18	0.19459	.	.	.	.	.	.	.	0.030811071	0.01211	T	0.002531	0.05065	T	.	.	.	.	0.173771789658	0.16945	0.18670805707146337	0.18588	.	.	.	.	.	.	.	.	-0.708942	0.00032	T	-0.96598	0.00216	T	.	.	.	0.284972	0.05045	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.42791	B	.;.	.;.	0.472324	0.08418	5.175	0.48925679490682189	0.04123	0.00504	0.02370	N	AEFBI	0.060433	0.11484	N	.	.	.	.	.	.	0.999377909230854	0.39355	0.489673	0.17934	0	0.71359	0.82159	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	0.131	0.131	0.14055	0.310000	0.19112	.	.	0.324000	0.19419	0.023000	0.19925	0.012000	0.20211	0.002000	0.04165	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	417.83	36	chr19	11555208	.	G	T	417.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.231;DP=197;ExcessHet=0;FS=2.072;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.71;ReadPosRankSum=-1.586;SOR=0.288	GT:AD:DP:GQ:PL	0/1:9,16:25:99:428,0,260	5	0	1	0
chr19	12113150	12113150	C	T	exonic	ZNF788P	.	nonsynonymous SNV	ZNF788P:NM_001348164:exon2:c.C1603T:p.R535C,ZNF788P:NM_001348165:exon3:c.C1603T:p.R535C,ZNF788P:NM_001348163:exon4:c.C1603T:p.R535C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00369274615851	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs769057711	3.576e-05	2.852e-05	3.776e-05	3.425e-05	0.0007	1.917e-05	1.501e-05	0.0004	0.0002	0	3.653e-05	0	0.0007	0	0	6.241e-06	0	3.331e-05	7.232e-05	7.225e-05	0.0001	4.038e-05	0.0006	3.974e-05	3.129e-05	0.0002	8.359e-05	0.0001	0	0	0	0.0006	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1252.83	38	chr19	12113150	.	C	T	1252.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.12;DP=294;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=0.907;SOR=0.665	GT:AD:DP:GQ:PL	0/1:56,47:103:99:1263,0,1385	5	0	1	0
chr19	12672869	12672869	C	T	exonic	WDR83	.	nonsynonymous SNV	WDR83:NM_032332:exon6:c.C529T:p.R177C,WDR83:NM_001099737:exon8:c.C529T:p.R177C	.	424	1096	2	0	0	2	0.000911577	.	.	.	2344723	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.737	0.123733500363	7.7e-05	.	0.0003	0.0002	0	0	0	0.0004	0	0.0002	7.76e-05	12	154602	rs377382977	6.53e-05	6.704e-05	5.236e-05	7.844e-05	0.0012	5.444e-05	5.053e-05	0.0006	0.0004	3.023e-05	0	0	7.737e-05	3.849e-05	0.0012	4.541e-05	0.0001	0.0003	3.943e-05	3.94e-05	1.285e-05	6.725e-05	0.0004	1.715e-05	1.129e-05	6.808e-05	2.85e-05	2.412e-05	0	0	0	0.0004	0	0	4.411e-05	0	0	0.11	0.29158	T	0.197	0.27855	T	1.0	0.90584	D	0.959	0.70163	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.045	0.56016	M	-1.45	0.80899	T	-3.97	0.73684	D	0.582	0.60325	0.323	0.87916	D	0.624	0.86779	D	10	0.57687473	0.65630	D	0.123734	0.80495	D	0.737	0.90852	.	.	0.659296572662	0.65644	0.621652313163349	0.62098	1.06813716266	0.76703	0.704967498779	0.67863	T	0.647673	0.89270	D	0.0744647	0.61385	D	0.15933	0.80765	D	0.766499936580658	0.44231	D	0.943706	0.78720	D	0.35146612	0.57180	0.1754145	0.40006	0.35146612	0.57181	0.1754145	0.40005	-10.265	0.75483	D	.	.	0.278	0.51156	B	.	.	6.028302	0.94381	34	0.99924681726285314	0.98980	0.94918	0.62783	D	AEFDBHCI	0.731823	0.67878	D	0.650909693011772	0.76429	6.484634	0.62285461916652	0.76605	6.521586	0.999999999975687	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.23	5.23	0.72570	5.456000	0.66404	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.799000	0.37691	0.0:1.0:0.0:0.0	17.565	0.87815	735	0.53711	WD40-repeat-containing 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	0.001017	0.005263	0.001366	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	346.83	33	chr19	12672869	.	C	T	346.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.213;DP=219;ExcessHet=0;FS=4.651;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.07;ReadPosRankSum=-0.352;SOR=0.245	GT:AD:DP:GQ:PL	0/1:27,16:43:99:357,0,699	5	0	1	0
chr19	16750330	16750330	C	T	exonic	NWD1	.	nonsynonymous SNV	NWD1:NM_001347994:exon5:c.C1070T:p.T357M,NWD1:NM_001007525:exon6:c.C1688T:p.T563M,NWD1:NM_001290355:exon7:c.C1283T:p.T428M	.	435	1050	35	2	0	39	0.0182328	.	.	.	2811785	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.029	.	0.0052	0.00319489	0.0069	0.0009	0.0018	0	0.0024	0.0092	0.0059	0.0102	0.0065135	1007	154602	rs141300843	0.0064	0.0064	0.0062	0.0065	0.0188	0.0062	0.0062	0.0159	0.0148	0.0017	0.0028	0.0183	5.038e-05	0.0021	0.0188	0.0066	0.0065	0.0084	0.0044	0.0044	0.0046	0.0043	0.0077	0.0042	0.0040	0.0065	0.0063	0.0008	0	0.0018	0.0153	0	0.0024	0.0170	0.0070	0.0071	0.0077	0.158	0.23905	T	0.526	0.10245	T	0.082	0.24665	B	0.014	0.16862	B	0.241064	0.15710	N	0.640286	1	0.08975	N	-0.485	0.02676	N	0.47	0.56114	T	0.43	0.03297	N	0.066	0.06990	-1.0755	0.08246	T	0.037	0.15770	T	10	0.0032134652	0.00055	T	.	.	.	0.029	0.06676	.	.	0.0611884634855	0.05136	0.23055863881366614	0.22970	0.152614297505	0.17216	0.302149355412	0.10722	T	5.85E-4	0.00238	T	-0.551344	0.00286	T	-0.557921	0.16572	T	0.00625591657394117	0.00069	T	0.715328	0.32778	T	0.018980328	0.00422	0.03925748	0.03978	0.018980328	0.00422	0.03925748	0.03978	-2.588	0.07153	T	.	.	0.074	0.07745	B	.;.;.;.	.;.;.;.	0.796979	0.11677	8.258	0.07088336291344946	0.00035	0.00419	0.02071	N	AEFBI	0.024551	0.01538	N	-0.965319545037062	0.09351	0.4422479	-0.917865094440947	0.11672	0.5961045	2.7198815757485E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.04	2.48	0.29194	2.174000	0.42109	1.637000	0.27771	0.589000	0.31548	0.210000	0.24424	0.011000	0.20116	0.075000	0.16954	0.0:0.4509:0.0:0.549	4.816	0.12731	906	0.23090	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.025732	0.005051	0.031250	0.026471	0.000000	0.043103	0.012195	0.026515	0.08333	348.83	31	chr19	16750330	.	C	T	348.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.064;DP=217;ExcessHet=0;FS=1.258;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=0.745;SOR=0.941	GT:AD:DP:GQ:PL	0/1:19,17:36:99:359,0,446	5	0	1	0
chr19	16951979	16951979	G	T	exonic	CPAMD8	.	nonsynonymous SNV	CPAMD8:NM_015692:exon20:c.C2498A:p.T833N	Anterior segement dysgenesis 8, Autosomal recessive	434	1085	2	0	1	3	0.00092081	.	.	.	2811796	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.073	0.00390149676305	0.0004	.	0.0012	0	0.0020	0	0	0.0016	0	0.0012	0.0004398	68	154602	rs200788931	0.0004	0.0005	0.0004	0.0005	0.0005	0.0004	0.0004	0.0005	0.0005	9.237e-05	0.0004	3.96e-05	2.63e-05	0	0	0.0005	0.0004	0.0005	0.0004	0.0004	0.0005	0.0003	0.0008	0.0003	0.0003	0.0006	0.0006	9.647e-05	0	0.0001	0	0	0	0	0.0008	0	0.0004	.	.	.	0.117	0.36365	T	.	.	.	.	.	.	0.240699	0.15718	N	0.614656	1	0.08975	N	.	.	.	2.55	0.13795	T	.	.	.	0.203	0.22486	-1.0044	0.28636	T	0.075	0.30272	T	9	0.042595357	0.03024	T	0.003901	0.09180	T	.	.	.	.	0.0666544352282	0.05500	.	.	0.299952561941	0.32355	0.253879219294	0.04188	T	.	.	.	-0.625615	0.00102	T	-0.755702	0.03268	T	0.0681538805365562	0.08390	T	0.819018	0.47665	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.954258	0.13303	9.807	0.73719462296097504	0.10430	0.38067	0.25904	N	AEFDBI	0.118753	0.23207	N	-0.948841024358326	0.09718	0.461207	-1.14636774804037	0.06833	0.3302857	0.00428880167136302	0.10487	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	3.14	-4.31	0.03443	2.352000	0.43735	0.120000	0.14904	-0.851000	0.02709	0.994000	0.38300	0.011000	0.20116	0.003000	0.05239	0.6361:0.1327:0.2312:0.0	6.550	0.21626	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08333	995.83	36	chr19	16951979	.	G	T	995.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.9;DP=277;ExcessHet=0;FS=1.696;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=-0.658;SOR=0.512	GT:AD:DP:GQ:PL	0/1:56,39:95:99:1006,0,1339	5	0	1	0
chr19	17286690	17286692	GTT	0	exonic	ANKLE1	.	.	.	.	521	443	240	2	316	560	0.215929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	645.65	42	chr19	17286690	.	GTT	*	645.65	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.284;DP=250;ExcessHet=2.3007;FS=1.471;MLEAC=3;MLEAF=0.25;MQ=59.9;MQRankSum=0;QD=4.3;ReadPosRankSum=0.656;SOR=0.546	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,4:18:46:0|1:17286672_G_T:81,0,444:17286672	3	0	3	0
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	739.81	42	chr19	17286692	.	T	*	739.81	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.798;DP=247;ExcessHet=0.1336;FS=3.403;MLEAC=6;MLEAF=0.5;MQ=59.92;MQRankSum=0;QD=5.73;ReadPosRankSum=1.57;SOR=0.382	GT:AD:DP:GQ:PL	0/1:11,6:17:99:328,0,324	1	1	4	0
chr19	17834887	17834887	C	T	exonic	JAK3	.	nonsynonymous SNV	JAK3:NM_000215:exon16:c.G2164A:p.V722I	SCID, autosomal recessive, T-negative/B-positive type, Autosomal recessive	1	1437	82	2	0	86	0.0290541	.	.	.	138312	not_provided|T-B+_severe_combined_immunodeficiency_due_to_JAK3_deficiency|not_specified|JAK3-related_disorder	MedGen:C3661900|MONDO:MONDO:0010938,MedGen:C1833275,OMIM:600802,Orphanet:35078|MedGen:CN169374|.	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.156	.	0.0095	0.00359425	0.0086	0.0023	0.0041	0	0.0035	0.0130	0.0077	0.0051	0.0085769	1326	154602	rs3213409	0.0100	0.0100	0.0099	0.0101	0.0229	0.0099	0.0098	0.0197	0.0185	0.0026	0.0057	0.0260	2.519e-05	0.0047	0.0229	0.0109	0.0095	0.0053	0.0075	0.0075	0.0082	0.0068	0.0115	0.0071	0.0070	0.0109	0.0106	0.0018	0	0.0069	0.0262	0	0.0033	0.0068	0.0115	0.0076	0.0064	0.029	0.47320	D	0.067	0.44302	T	0.001	0.07471	B	0.004	0.10090	B	0.243360	0.15664	N	0.618726	1	0.08975	N	0.49	0.13296	N	0.06	0.61798	T	-0.8	0.22294	N	0.032	0.01135	-1.0145	0.25497	T	0.085	0.33241	T	10	0.0028762817	0.00046	T	.	.	.	0.156	0.40720	.	.	0.348454897831	0.34454	0.5311442961215286	0.53038	0.391737070457	0.40370	0.366400837898	0.20314	T	0.405752	0.76185	T	-0.531877	0.00374	T	-0.526393	0.19648	T	0.0164766271593883	0.00412	T	0.564843	0.19943	T	0.048163924	0.08350	0.051704865	0.08375	0.048167907	0.08353	0.05393384	0.09178	-6.642	0.51825	T	0.11864946227562068	0.10969	0.071	0.03849	B	.;.;.	.;.;.	1.612184	0.20598	14.82	0.97845570022248962	0.36358	0.23033	0.21944	N	AEFBCI	0.110569	0.21921	N	-0.961122929809512	0.09444	0.4470025	-0.986255251364803	0.10093	0.5062114	0.696009353993551	0.22642	0.67177	0.52595	0	0.702456	0.74545	0	0.491614	0.08109	1	0.550183	0.17644	0	.	.	4.89	0.248	0.14786	3.042000	0.49504	0.717000	0.20982	0.524000	0.24156	0.175000	0.24000	0.000000	0.08366	0.013000	0.09966	0.0:0.6163:0.0:0.3837	7.741	0.28004	964	0.07719	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.017120	0.005051	0.017663	0.011696	0.050000	0.017241	0.027439	0.018939	0.08333	1953.83	35	chr19	17834887	.	C	T	1953.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.85;DP=309;ExcessHet=0;FS=7.638;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=0.254;SOR=0.754	GT:AD:DP:GQ:PL	0/1:65,72:137:99:1964,0,1484	5	0	1	0
chr19	18257742	18257742	C	T	exonic	IQCN	.	nonsynonymous SNV	IQCN:NM_001145304:exon4:c.G3542A:p.R1181Q,IQCN:NM_001145305:exon4:c.G2843A:p.R948Q,IQCN:NM_025249:exon4:c.G2981A:p.R994Q	.	430	1063	28	1	0	30	0.0139147	.	.	.	2811843	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.048	0.00561481164736	0.0025	0.00199681	0.0027	0.0007	0.0038	0	0.0002	0.0040	0.0012	0.0004	0.0026778	414	154602	rs147110090	0.0038	0.0038	0.0039	0.0037	0.0044	0.0037	0.0037	0.0043	0.0043	0.0007	0.0032	0.0042	2.521e-05	0.0003	0.0028	0.0044	0.0032	0.0007	0.0027	0.0027	0.0028	0.0026	0.0051	0.0025	0.0024	0.0042	0.0038	0.0006	0	0.0051	0.0035	0	9.416e-05	0.0136	0.0041	0.0047	0.0015	0.269	0.16091	T	0.467	0.12351	T	0.648	0.40583	P	0.072	0.28043	B	0.488781	0.05024	N	1.467820	1	0.08975	N	.	.	.	3.94	0.03544	T	-0.1	0.08495	N	0.07	0.05929	-0.9079	0.47109	T	0.004	0.01400	T	10	0.0059554875	0.00134	T	0.005615	0.14500	T	0.048	0.13305	.	.	0.0551355673512	0.04727	0.046398099178604615	0.04583	0.209070641549	0.23371	0.206471741199	0.00670	T	0.004904	0.04322	T	-0.732653	0.00023	T	-0.825326	0.01348	T	0.00359907381321254	0.00038	T	0.559044	0.20591	T	0.023774633	0.01146	0.039027713	0.03904	0.023774633	0.01146	0.039027713	0.03904	-4.45	0.30915	T	.	.	0.081	0.18705	B	.;.;.;.	.;.;.;.	-0.707385	0.01304	0.070	0.95511092694057775	0.27115	0.01951	0.05929	N	AEFDBHCI	0.038037	0.05324	N	-1.10275933400737	0.06594	0.3039807	-1.23907239928053	0.05295	0.2519379	1.11638662379748E-4	0.05269	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	4.26	-4.28	0.03475	-1.511000	0.02364	-4.576000	0.02087	-1.032000	0.01689	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6529:0.1628:0.1843	8.402	0.31753	871	0.31377	IQ motif, EF-hand binding site;IQ motif, EF-hand binding site;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009567	0.020408	0.012228	0.000000	0.000000	0.000000	0.021341	0.003788	0.08333	1711.83	38	chr19	18257742	.	C	T	1711.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.81;DP=304;ExcessHet=0;FS=2.247;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=-0.875;SOR=0.722	GT:AD:DP:GQ:PL	0/1:64,64:128:99:1722,0,1495	5	0	1	0
chr19	19711725	19711725	C	T	exonic	ZNF14	.	nonsynonymous SNV	ZNF14:NM_021030:exon4:c.G1556A:p.R519Q	.	.	.	.	.	.	.	.	.	.	.	3353649	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.155	0.00169006045905	7.7e-05	.	0.0002	0	0	0	0	0.0003	0	0	0.0001358	21	154602	rs201226556	0.0001	0.0001	0.0001	0.0001	3.237e-05	0.0001	9.967e-05	2.37e-05	2.103e-05	0	0	0.0046	2.519e-05	1.872e-05	0	3.237e-05	0.0003	0	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	5.843e-05	4.24e-05	2.417e-05	0	0	0.0060	0	0	0	0.0001	0	0	1.0	0.00964	T	0.464	0.12456	T	0.964	0.55854	D	0.168	0.35187	B	.	.	.	.	1	0.08975	N	-0.265	0.03777	N	3.66	0.04228	T	0.05	0.06369	N	0.11	0.09631	-0.9367	0.43134	T	0.006	0.01907	T	9	0.009927243	0.00223	T	0.00169	0.02805	T	0.155	0.40530	.	.	0.326881540566	0.32305	0.0108221051433354	0.01043	0.311106295773	0.33413	0.223590970039	0.01527	T	0.016983	0.13935	T	-0.563177	0.00243	T	-0.866445	0.00776	T	0.11184275039425	0.13612	T	0.623938	0.24053	T	0.019801095	0.00519	0.02999904	0.01403	0.019801095	0.00518	0.02999904	0.01402	-5.118	0.38096	T	.	.	0.120	0.24833	B	.	.	1.357851	0.17661	13.30	0.93512409967776078	0.23325	0.00008	0.00134	N	AEFBHCI	0.014029	0.00208	N	-0.946927267391607	0.09762	0.4634409	-1.09585467088347	0.07781	0.379865	0.00356354762358558	0.10179	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.8	-2.34	0.06321	-1.242000	0.03018	.	.	-0.620000	0.04556	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.2928:0.3883:0.3189	3.429	0.06994	572	0.70300	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	779.83	40	chr19	19711725	.	C	T	779.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.487;DP=250;ExcessHet=0;FS=5.238;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=-0.524;SOR=1.08	GT:AD:DP:GQ:PL	0/1:31,28:59:99:790,0,821	5	0	1	0
chr19	21973353	21973353	C	T	exonic	ZNF208	.	nonsynonymous SNV	ZNF208:NM_007153:exon4:c.G1681A:p.A561T	.	.	.	.	.	.	.	.	.	.	.	2198418	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.003	0.00130317686133	0.0007	0.000998403	0.0002	0.0028	8.949e-05	0	0	0	0	0	0.0003842	10	26028	rs192588574	0.0001	0.0001	0.0002	9.916e-05	0.0044	0.0001	0.0001	0.0038	0.0036	0.0044	0.0001	3.83e-05	0	0	0.0002	4.497e-06	0.0005	1.16e-05	0.0010	0.0010	0.0009	0.0011	0.0034	0.0009	0.0008	0.0030	0.0028	0.0034	0	0.0003	0	0	0	0	5.911e-05	0.0005	0	0.133	0.26409	T	0.427	0.13832	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.23	0.09627	N	2.56	0.13673	T	-1.91	0.44471	N	0.061	0.03283	-0.9578	0.39589	T	0.016	0.06329	T	6	0.006884128	0.00156	T	0.001303	0.01809	T	0.003	0.00094	.	.	0.260735089382	0.25697	0.009917596057716388	0.00953	0.00847670665438	0.00769	0.317813277245	0.13090	T	0.004127	0.03542	T	-0.729764	0.00024	T	-0.824397	0.01366	T	0.00805580793436602	0.00095	T	0.0611939	0.00446	T	0.030840507	0.02818	0.055502743	0.09747	0.030840507	0.02818	0.055502743	0.09746	-8.217	0.62539	D	.	.	0.123	0.25817	B	.	.	0.160892	0.05513	1.977	0.45403375356760817	0.03561	0.03342	0.08423	N	AEFBHCI	0.039636	0.05785	N	-0.793100130091209	0.13489	0.6648601	-0.985552077478491	0.10109	0.507089	1.13476124226421E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.89	0.47	0.15957	-3.300000	0.00577	.	.	-0.680000	0.04236	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.5287:0.3485:0.0:0.1228	4.527	0.11392	988	0.01987	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	0.001586	0.000000	0.001359	0.004098	0.000000	0.008621	0.000000	0.000000	0.08333	1443.83	37	chr19	21973353	.	C	T	1443.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.462;DP=424;ExcessHet=0;FS=1.648;MLEAC=1;MLEAF=0.083;MQ=54.87;MQRankSum=-1.536;QD=14.73;ReadPosRankSum=0.956;SOR=0.693	GT:AD:DP:GQ:PL	0/1:43,55:98:99:1454,0,1136	5	0	1	0
chr19	35668622	35668622	G	A	exonic	UPK1A	.	nonsynonymous SNV	UPK1A:NM_001281443:exon3:c.G253A:p.A85T,UPK1A:NM_007000:exon3:c.G253A:p.A85T	.	419	1096	7	0	0	7	0.00318327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	.	0.0002	0.00299521	0.0025	0.0001	0.0005	0.0136	0	0.0012	0.0025	0.0056	0.0020116	311	154602	rs187217680	0.0012	0.0012	0.0010	0.0014	0.0183	0.0011	0.0011	0.0172	0.0168	0.0004	0.0005	0.0066	0.0183	3.753e-05	0.0096	0.0002	0.0019	0.0048	0.0009	0.0009	0.0008	0.0011	0.0135	0.0008	0.0008	0.0110	0.0100	2.408e-05	0	0.0007	0.0055	0.0135	0	0.0068	0.0003	0.0019	0.0035	0.168	0.23007	T	0.366	0.16865	T	0.004	0.14184	B	0.005	0.11217	B	0.023408	0.26448	N	0.334108	1	0.08975	N	-0.345	0.03330	N	-1.73	0.83327	D	-1.71	0.44094	N	0.154	0.18239	-0.8655	0.50864	T	0.233	0.59904	T	10	0.0093410015	0.00211	T	.	.	.	0.189	0.46613	.	.	0.130388298395	0.12655	0.8082656392887393	0.80781	0.20078548342	0.22476	0.303715914488	0.10958	T	0.09637	0.39811	T	-0.430234	0.01477	T	-0.381383	0.35561	T	0.0124863119538887	0.00206	T	0.589941	0.21689	T	0.08827576	0.20586	0.094783075	0.22450	0.08827576	0.20586	0.094783075	0.22450	-3.865	0.21779	T	.	.	0.131	0.28550	B	.;.;.;.	.;.;.;.	1.027530	0.14072	10.64	0.90902787531915896	0.20152	0.09509	0.15249	N	AEFDBI	0.070808	0.14072	N	-1.20162894363044	0.04977	0.2258106	-1.2005549174115	0.05901	0.2825243	0.00115803677584451	0.08283	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.33	0.496	0.16103	1.119000	0.30872	3.186000	0.36680	-0.706000	0.03979	0.008000	0.17931	0.465000	0.25022	0.000000	0.00833	0.2339:0.1326:0.6335:0.0	6.374	0.20703	894	0.26265	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005550	0.000000	0.005435	0.000000	0.000000	0.017241	0.012195	0.003817	0.08333	882.83	33	chr19	35668622	.	G	A	882.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.359;DP=223;ExcessHet=0;FS=1.209;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.66;ReadPosRankSum=-1.02;SOR=0.495	GT:AD:DP:GQ:PL	0/1:19,31:50:99:893,0,458	5	0	1	0
chr19	37186371	37186371	C	T	exonic	ZNF585B	.	nonsynonymous SNV	ZNF585B:NM_152279:exon5:c.G1166A:p.R389K	.	358	1161	3	0	0	3	0.00129032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	0.0113818	0.0028	0.0303	0.0010	0.0001	0	0.0001	0	0.0003	0.0026649	412	154602	rs112958950	0.0009	0.0009	0.0010	0.0007	0.0291	0.0008	0.0008	0.0276	0.0270	0.0291	0.0012	0	5.038e-05	1.872e-05	0.0028	7.104e-05	0.0018	0.0003	0.0078	0.0079	0.0082	0.0075	0.0274	0.0075	0.0073	0.0261	0.0255	0.0274	0	0.0020	0	0	0	0	0.0001	0.0062	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.001214	0.39820	N	0.000000	1	0.81001	D	-0.385	0.03041	N	2.77	0.11407	T	2.68	0.00194	N	0.107	0.11054	-0.9497	0.41023	T	0.004	0.01159	T	10	0.0025695264	0.00039	T	.	.	.	0.035	0.08770	.	.	0.130388298395	0.12655	0.026753635890488656	0.02625	0.301449138178	0.32482	0.514855742455	0.40903	T	0.017921	0.14537	T	-0.690429	0.00042	T	-0.742217	0.03798	T	0.00102930978295012	0.00010	T	0.0376962	0.00261	T	0.048542056	0.08476	0.052093543	0.08514	0.048542056	0.08476	0.052093543	0.08514	0.294	0.00260	T	.	.	0.065	0.02038	B	.;.	.;.	1.396874	0.18105	13.55	0.37341747942745823	0.02455	0.03623	0.08862	N	AEFGBCI	0.051975	0.09233	N	-1.05986893306434	0.07395	0.3434153	-0.843721152194992	0.13438	0.6971309	0.00228101637099544	0.09286	0.562547	0.31514	0	0.588015	0.36545	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	2.89	2.89	0.32713	1.531000	0.35624	.	.	-0.223000	0.07921	0.875000	0.30889	0.004000	0.18990	0.890000	0.42831	0.0:0.1313:0.0:0.8687	6.372	0.20690	647	0.63344	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	0.005539	0.000000	0.009511	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	956.83	38	chr19	37186371	.	C	T	956.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.638;DP=281;ExcessHet=0;FS=9.565;MLEAC=1;MLEAF=0.083;MQ=53.79;MQRankSum=-2.712;QD=11.81;ReadPosRankSum=0.048;SOR=0.671	GT:AD:DP:GQ:PL	0/1:49,32:81:99:967,0,1437	5	0	1	0
chr19	37669705	37669705	C	G	exonic	ZNF781	.	nonsynonymous SNV	ZNF781:NM_152605:exon4:c.G444C:p.Q148H	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.0056304071421	.	.	6.591e-05	0	0.0003	0	0	5.994e-05	0	0	5.17e-05	8	154602	rs778224456	3.899e-05	3.899e-05	3.676e-05	4.126e-05	0.0010	3.047e-05	2.783e-05	0.0005	0.0003	0	0.0004	0	0	0	0.0010	1.349e-05	0.0001	0.0001	2.629e-05	2.627e-05	0	5.381e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	6.549e-05	0	0	0	0	2.94e-05	0	0.0002	0.067	0.35918	T	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.345	0.11182	N	3.13	0.08014	T	-0.79	0.21860	N	0.098	0.09772	-0.9636	0.38488	T	0.016	0.06473	T	9	0.050664306	0.04832	T	0.00563	0.14560	T	0.020	0.03691	0.361	0.36548	0.0401082797425	0.02173	0.10600939575647776	0.10530	0.0537188991977	0.05932	.	.	.	.	.	.	-0.644744	0.00078	T	-0.823357	0.01386	T	0.0185719166429632	0.00572	T	0.115488	0.00878	T	.	.	.	.	.	.	.	.	-3.752	0.20089	T	.	.	0.401	0.59650	A	.;.	.;.	0.515027	0.08836	5.617	0.88355844912805048	0.17912	0.01448	0.04854	N	AEFGBHCI	0.096099	0.19406	N	-1.27192317424553	0.04017	0.1805543	-1.37969619620506	0.03469	0.1618808	0.0215762025236667	0.13360	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.21	-2.69	0.05668	-0.608000	0.05737	.	.	-2.130000	0.00381	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.5577:0.3247:0.1176	6.808	0.22970	662	0.61715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	698.83	42	chr19	37669705	.	C	G	698.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.14;DP=249;ExcessHet=0;FS=2.577;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.19;ReadPosRankSum=1.44;SOR=0.33	GT:AD:DP:GQ:PL	0/1:24,22:46:99:709,0,664	5	0	1	0
chr19	37887093	37887093	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6578C:p.I2193T,WDR87:NM_031951:exon6:c.T6461C:p.I2154T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0455139123668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.853e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.22138	T	0.693	0.05882	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	-0.28	0.67543	T	-0.07	0.08033	N	0.067	0.03956	-0.9885	0.32978	T	0.121	0.42208	T	9	0.0735006	0.11114	T	0.045514	0.62018	D	0.030	0.07022	0.322	0.30226	0.0551355673512	0.04727	0.019455290587693495	0.01899	.	.	0.366222500801	0.20289	T	.	.	.	-0.271564	0.11583	T	-0.627859	0.10578	T	0.0769434833446011	0.09592	T	0.353365	0.07952	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.37293	B	.;.	.;.	-1.370848	0.00382	0.007	0.78222985595802419	0.12208	0.01418	0.04786	N	AEFGBI	0.030388	0.03052	N	-1.5918959215929	0.01305	0.05684392	-1.65151224496589	0.01368	0.06179205	0.00476714215870287	0.10704	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	-4.52	0.03227	-2.190000	0.01332	.	.	-0.612000	0.04583	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3557:0.1261:0.5182:0.0	8.886	0.34564	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	375.06	82	chr19	37887093	.	A	G	375.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.746;DP=417;ExcessHet=0.4139;FS=157.6;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=2.6;ReadPosRankSum=0.25;SOR=6.664	GT:AD:DP:GQ:PL	0/1:50,12:62:99:237,0,1730	4	0	2	0
chr19	37887095	37887095	C	T	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.G6576A:p.M2192I,WDR87:NM_031951:exon6:c.G6459A:p.M2153I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.0204136497208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.31834	T	0.276	0.22016	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.1	0.39050	T	-0.48	0.15379	N	0.108	0.10483	-1.0375	0.18078	T	0.044	0.18948	T	9	0.05899042	0.07022	T	0.020414	0.42999	T	0.009	0.00846	0.39	0.41279	0.0920862733494	0.08535	0.029034270678991596	0.02852	.	.	0.393157303333	0.24114	T	.	.	.	-0.264741	0.12349	T	-0.618058	0.11338	T	0.0694930752056396	0.08580	T	0.381062	0.09207	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.64238	A	.;.	.;.	0.319938	0.06943	3.492	0.38647600985457964	0.02619	0.03920	0.09307	N	AEFGBI	0.049399	0.08530	N	-1.08419287681575	0.06934	0.320632	-1.08622430549721	0.07971	0.3899139	4.11720576999195E-4	0.06899	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	0.383	0.15462	0.602000	0.23833	.	.	0.589000	0.31548	0.070000	0.22072	0.000000	0.08366	0.013000	0.09966	0.3759:0.3632:0.0:0.2609	2.678	0.04771	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3	663.12	77	chr19	37887095	.	C	T	663.12	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-2.561;DP=401;ExcessHet=1.383;FS=244.01;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=3.08;ReadPosRankSum=1.13;SOR=7.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,15:60:99:0|1:37887095_C_T:381,0,1585:37887095	2	0	3	1
chr19	37887096	37887096	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6575C:p.M2192T,WDR87:NM_031951:exon6:c.T6458C:p.M2153T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0229314344301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.173e-07	2.259e-05	1.416e-06	0	9.296e-07	0	0	.	.	0	0	0	0	0	0	9.296e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.639	0.06992	T	0.213	0.30041	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	.	.	.	1.06	0.39781	T	-1.37	0.33998	N	0.241	0.27197	-1.0379	0.17954	T	0.045	0.19437	T	9	0.07963219	0.12831	T	0.022931	0.45860	T	0.034	0.08419	0.354	0.35408	0.132336055621	0.12781	0.09333230472886582	0.09265	.	.	0.44281449914	0.30962	T	.	.	.	-0.187347	0.22650	T	-0.506887	0.21634	T	0.185715109109879	0.19588	T	0.310469	0.06031	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.66846	A	.;.	.;.	1.675669	0.21359	15.17	0.2656475844503623	0.01278	0.05870	0.11817	N	AEFGBI	0.068161	0.13433	N	-0.937720259489842	0.09970	0.4742779	-0.936529822273914	0.11236	0.5712116	0.00186976402927546	0.08957	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	2.35	0.28166	3.208000	0.50816	.	.	0.743000	0.86499	0.302000	0.25342	0.056000	0.21938	0.017000	0.10941	0.637:0.1851:0.0:0.1778	5.276	0.14959	646	0.63441	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	568.99	68	chr19	37887096	.	A	G	568.99	.	AC=2;AF=0.333;AN=6;BaseQRankSum=-0.929;DP=389;ExcessHet=0.4139;FS=159.422;MLEAC=3;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.01;ReadPosRankSum=1.26;SOR=6.802	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,14:59:99:0|1:37887095_C_T:375,0,1588:37887095	1	0	2	3
chr19	37888927	37888927	C	A	exonic	WDR87	.	stopgain	WDR87:NM_001291088:exon6:c.G4744T:p.E1582X,WDR87:NM_031951:exon6:c.G4627T:p.E1543X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1384823939	4.286e-06	4.104e-06	1.409e-06	7.242e-06	5.048e-05	1.54e-06	1.01e-06	1.678e-05	9.94e-06	0	2.8e-05	0	2.798e-05	0	0	0	0	5.048e-05	6.567e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.107	0.09207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284609	0.81708	D	0.298823	0.88145	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	5.648336	0.92792	33	0.99121805683957087	0.53011	0.34649	0.25117	N	AEFBI	0.095559	0.19304	N	-0.102989873893797	0.37261	2.165388	-0.484940969016352	0.22568	1.226394	0.00325016831531471	0.10012	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.85	0.416	0.15634	1.273000	0.32724	.	.	0.589000	0.31548	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.6979:0.0:0.3021	7.822	0.28454	646	0.63441	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1756.83	38	chr19	37888927	.	C	A	1756.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.39;DP=485;ExcessHet=0;FS=0.646;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=0.022;SOR=0.8	GT:AD:DP:GQ:PL	0/1:69,66:135:99:1767,0,1880	5	0	1	0
chr19	39873643	39873643	C	T	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon24:c.G10756A:p.V3586I	.	428	1089	4	1	0	6	0.00274725	.	.	.	2397313	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.509	0.038535371792	.	.	8.316e-05	0	0	0	0	9.104e-05	0	0.0002	7.12e-05	11	154602	rs200368344	8.311e-05	7.182e-05	7.505e-05	9.131e-05	0.0004	6.952e-05	6.484e-05	7.926e-05	6.788e-05	0	2.682e-05	0	0	0	0.0004	8.91e-05	0.0001	9.612e-05	5.912e-05	5.91e-05	6.422e-05	5.377e-05	0.0002	3.076e-05	2.209e-05	5.841e-05	4.238e-05	0	0	0	0	0	0	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	2680.83	43	chr19	39873643	.	C	T	2680.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.31;DP=399;ExcessHet=0;FS=3.159;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=0.227;SOR=0.628	GT:AD:DP:GQ:PL	0/1:97,103:200:99:2691,0,2290	5	0	1	0
chr19	43747534	43747534	C	T	exonic	SMG9	.	nonsynonymous SNV	SMG9:NM_019108:exon5:c.G496A:p.V166M	Heart and brain malformation syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3474412	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.051	0.00646259652211	.	.	2.474e-05	0	0	0.0001	0.0002	1.499e-05	0	0	2.59e-05	4	154602	rs771617220	1.505e-05	1.505e-05	1.089e-05	1.925e-05	2.519e-05	9.85e-06	8.41e-06	1.012e-05	8.35e-06	0	2.236e-05	0	2.519e-05	1.873e-05	0	1.619e-05	1.656e-05	0	3.285e-05	3.284e-05	3.855e-05	2.69e-05	4.824e-05	1.261e-05	7.98e-06	8e-06	2.99e-06	4.824e-05	0	0	0	0	9.42e-05	0	2.94e-05	0	0	0.02	0.49613	D	0.038	0.51421	D	0.297	0.38723	B	0.015	0.27859	B	0.000001	0.62929	D	0.000000	0.999829	0.49512	D	1.795	0.47270	L	.	.	.	-0.73	0.20576	N	0.21	0.23758	-1.0264	0.21625	T	0.087	0.33690	T	9	0.17446554	0.32327	T	0.006463	0.17014	T	0.051	0.14325	0.548	0.66296	0.367042808489	0.36316	0.25394499512822116	0.25308	0.712895479657	0.61788	0.667504489422	0.62482	T	0.030069	0.22570	T	-0.182705	0.23333	T	-0.331092	0.41348	T	0.270310512078316	0.23761	T	0.944706	0.79983	D	0.10307997	0.24361	0.11341646	0.27371	0.10307997	0.24361	0.11341646	0.27371	-4.361	0.29023	T	.	.	0.19	0.56271	B	.;.;.	.;.;.	3.767974	0.54107	23.4	0.99823211792966793	0.90590	0.80836	0.40374	D	AEFDGBCI	0.248087	0.36855	N	-0.0927001642082245	0.37711	2.198007	0.0290460941207609	0.41070	2.461305	0.999999957160243	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.3	4.27	0.50009	3.591000	0.53733	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.895000	0.43227	0.0:0.9138:0.0:0.0862	11.754	0.51130	895	0.25842	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1563.83	35	chr19	43747534	.	C	T	1563.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.561;DP=300;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=0.189;SOR=0.734	GT:AD:DP:GQ:PL	0/1:53,65:118:99:1574,0,1245	5	0	1	0
chr19	44916213	44916213	C	A	exonic	APOC1	.	nonsynonymous SNV	APOC1:NM_001321065:exon3:c.C82A:p.P28T,APOC1:NM_001379687:exon3:c.C82A:p.P28T,APOC1:NM_001645:exon3:c.C82A:p.P28T,APOC1:NM_001321066:exon4:c.C82A:p.P28T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.0165625352284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.53788	T	0.611	0.39680	P	0.505	0.47795	P	0.260481	0.15325	N	0.544230	1	0.08975	N	.	.	.	0.77	0.49642	T	.	.	.	0.249	0.39052	-0.9843	0.33998	T	0.116	0.40919	T	9	0.21125141	0.37547	T	0.016563	0.37875	T	.	.	0.548	0.66296	0.490074841992	0.48640	0.07054427231967264	0.06991	0.45022711451	0.44788	0.339091420174	0.16302	T	0.838915	0.96225	D	-0.159501	0.26836	T	-0.466889	0.25851	T	0.564923822879791	0.35042	D	0.688631	0.29780	T	0.23945367	0.46836	0.1834017	0.41327	0.23945367	0.46836	0.1834017	0.41326	-4.234	0.27241	T	.	.	0.092	0.37388	B	.;.;.;.;.;.	.;.;.;.;.;.	1.188475	0.15795	12.11	0.96969100635033545	0.31811	0.10693	0.16126	N	AEFDBCIJ	0.504825	0.53623	D	-0.800043490138274	0.13309	0.6547367	-0.98155537093774	0.10200	0.5122021	0.999935729529671	0.46732	0.634777	0.41761	0	0.723109	0.82256	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	4.33	-1.66	0.07824	-0.285000	0.08444	.	.	-0.382000	0.05385	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3729:0.3331:0.294	4.164	0.09760	889	0.27310	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1698.83	39	chr19	44916213	.	C	A	1698.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.253;DP=323;ExcessHet=0;FS=4.388;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-0.91;SOR=0.386	GT:AD:DP:GQ:PL	0/1:55,72:127:99:1709,0,1282	5	0	1	0
chr19	44990584	44990584	G	A	exonic	CLPTM1	.	nonsynonymous SNV	CLPTM1:NM_001282175:exon10:c.G1280A:p.R427Q,CLPTM1:NM_001282176:exon10:c.G1016A:p.R339Q,CLPTM1:NM_001294:exon10:c.G1322A:p.R441Q	.	417	1097	8	0	0	8	0.00363306	0.0023	0.04	.	3214270	CLPTM1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.055	0.00879429344642	.	0.00119808	0.0006	0	0	0	0	6.019e-05	0	0.0044	0.0005498	85	154602	rs151296794	0.0003	0.0003	0.0002	0.0004	0.0036	0.0003	0.0002	0.0033	0.0032	0	4.475e-05	0	0	0	0.0002	6.659e-05	0.0002	0.0036	0.0001	0.0001	5.141e-05	0.0002	0.0027	7.089e-05	5.746e-05	0.0016	0.0013	2.407e-05	0	6.543e-05	0	0	0	0	2.94e-05	0	0.0027	0.343	0.12592	T	0.393	0.15355	T	0.009	0.15093	B	0.005	0.11217	B	0.001248	0.39669	N	0.241058	0.995024	0.43677	D	1.39	0.34934	L	.	.	.	-0.49	0.15578	N	0.457	0.49783	-0.8783	0.49896	T	0.192	0.54521	T	9	0.012220532	0.00264	T	0.008794	0.23196	T	0.055	0.15663	.	.	0.540240987785	0.53675	0.3793797432434692	0.37852	0.843284677431	0.68164	0.567537307739	0.48329	T	0.044901	0.26958	T	-0.340488	0.05353	T	-0.262384	0.48586	T	0.0172286230023846	0.00465	T	0.963704	0.86510	D	0.099150434	0.23395	0.083803326	0.19233	0.099150434	0.23395	0.083803326	0.19233	-5.755	0.46330	T	.	.	0.064	0.06756	B	.;.;.	.;.;.	4.176453	0.62841	24.5	0.99170820945214766	0.54383	0.83896	0.42987	D	AEFDBHCI	0.612778	0.60072	D	-0.0909960928787201	0.37786	2.20346	0.0827962405550232	0.43684	2.66508	0.989680984042248	0.31904	0.706548	0.73137	0	0.696144	0.67643	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.07	5.07	0.68106	3.022000	0.49342	.	.	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.931000	0.46843	0.0:0.0:1.0:0.0	15.998	0.80063	835	0.38313	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	958.83	40	chr19	44990584	.	G	A	958.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.17;DP=277;ExcessHet=0;FS=4.6;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-0.607;SOR=0.335	GT:AD:DP:GQ:PL	0/1:44,37:81:99:969,0,1168	5	0	1	0
chr19	46230303	46230303	T	G	exonic	IGFL1	.	nonsynonymous SNV	IGFL1:NM_198541:exon3:c.T109G:p.C37G	.	429	1084	9	0	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	.	0.0046	0.00239617	0.0054	0.0008	0.0054	0	0.0130	0.0072	0.0056	0.0004	0.0053492	827	154602	rs187146043	0.0063	0.0063	0.0065	0.0061	0.0068	0.0062	0.0062	0.0066	0.0066	0.0011	0.0053	0.0106	0	0.0131	0.0055	0.0068	0.0060	0.0004	0.0059	0.0059	0.0055	0.0063	0.0075	0.0056	0.0054	0.0069	0.0067	0.0014	0.0099	0.0075	0.0089	0	0.0137	0.0136	0.0074	0.0118	0.0004	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.997	0.86255	D	0.001585	0.38554	N	0.000000	0.99622	0.23082	N	2.425	0.70256	M	0.21	0.59983	T	-11.7	0.99521	D	0.825	0.82057	-0.8196	0.53959	T	0.239	0.60691	T	10	0.03723228	0.02065	T	.	.	.	0.305	0.62620	.	.	0.534191878353	0.53070	0.7802701728234529	0.77978	0.264189448403	0.28968	0.363673508167	0.19920	T	0.147273	0.48528	T	-0.228338	0.16869	T	-0.0959219	0.63711	T	0.104620483713118	0.12857	T	0.433257	0.11819	T	0.58172077	0.71702	0.445996	0.67729	0.58172077	0.71704	0.445996	0.67729	-0.636	0.00673	T	.	.	0.612	0.69362	P	.	.	3.179877	0.43155	21.7	0.95757085069908743	0.27739	0.61672	0.31553	D	AEFBI	0.111020	0.21995	N	-0.019034625594135	0.40994	2.444238	-0.182073642364267	0.32195	1.829285	0.372296116402908	0.19882	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.76	1.7	0.23359	1.028000	0.29734	2.071000	0.30443	-0.980000	0.01901	0.899000	0.31403	1.000000	0.68203	0.056000	0.15673	0.2656:0.0:0.0:0.7343	5.038	0.13787	557	0.71576	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007049	0.020202	0.006793	0.002924	0.000000	0.008621	0.009146	0.000000	0.25	5689.03	39	chr19	46230303	.	T	G	5689.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.56;DP=540;ExcessHet=1.383;FS=2.458;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=-0.074;SOR=0.902	GT:AD:DP:GQ:PL	0/1:64,71:135:99:1896,0,1633	3	0	3	0
chr19	46493986	46493986	G	C	exonic	PNMA8B	.	nonsynonymous SNV	PNMA8B:NM_020709:exon1:c.C1480G:p.R494G	.	408	1111	3	0	0	3	0.00134831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171101678107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	0.17857	T	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	2.07	0.20387	T	.	.	.	0.078	0.05287	.	.	.	.	.	.	.	0.06749013	0.09410	T	0.171102	0.84847	D	.	.	.	.	0.449283877778	0.44552	0.13604665218853548	0.13528	.	.	0.250925034285	0.03866	T	.	.	.	-0.351289	0.04646	T	-0.742379	0.03791	T	.	.	.	0.369563	0.08694	T	0.08700898	0.20245	0.10966447	0.26432	0.08700898	0.20245	0.10966447	0.26431	-3.724	0.19673	T	.	.	0.206	0.43158	B	.	.	1.416855	0.18331	13.68	0.92220851049580932	0.21594	0.01733	0.05477	N	AEFDBI	0.070376	0.13967	N	.	.	.	.	.	.	0.989160851410125	0.31742	0.65757	0.49021	0	0.563428	0.19063	0	0.619478	0.44681	0	0.63947	0.58350	0	.	.	1.86	0.725	0.17395	0.159000	0.16258	-0.921000	0.06919	0.514000	0.23422	0.000000	0.06391	0.000000	0.08366	0.105000	0.18517	0.0:0.3294:0.6706:0.0	5.998	0.18736	866	0.32446	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	4079.03	39	chr19	46493986	.	G	C	4079.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.52;DP=507;ExcessHet=1.383;FS=1.673;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=0.054;SOR=0.792	GT:AD:DP:GQ:PL	0/1:81,47:128:99:1094,0,1969	3	0	3	0
chr19	49958569	49958569	G	C	exonic	SIGLEC11	.	stopgain	SIGLEC11:NM_052884:exon8:c.C1365G:p.Y455X	.	397	1094	31	0	0	31	0.0139703	0.0001	0.194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.844e-05	0	0	0	0	3.235e-05	0	0	3.84e-05	1	26028	rs773869337	1.271e-05	0.0013	1.118e-05	1.428e-05	2.65e-05	7.95e-06	6.56e-06	6.66e-06	5.13e-06	0	2.65e-05	0	0	1.948e-05	0	1.193e-05	1.719e-05	2.523e-05	0.0002	0.0043	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	2.412e-05	0	0.0002	0	0	0.0002	0	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	0.005903	0.32413	N	0.142496	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.041	0.01421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308415	0.83624	D	0.20524	0.83412	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.970865	0.95980	35	0.99364742905910408	0.61155	0.27032	0.23163	N	AEFDBI	0.347829	0.44217	N	0.385460505234018	0.60633	4.254436	0.0331304876469149	0.41264	2.476144	8.35550253576146E-5	0.04703	0.615755	0.39536	0	0.547309	0.14657	0	0.618376	0.41669	0	0.564101	0.26826	0	.	.	2.69	0.248	0.14786	0.248000	0.17971	-4.073000	0.02358	0.672000	0.70159	0.000000	0.06391	0.000000	0.08366	0.204000	0.22012	0.1561:0.0:0.5925:0.2514	3.402	0.06903	685	0.59416	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	204.83	34	chr19	49958569	.	G	C	204.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.2;DP=311;ExcessHet=0;FS=32.923;MLEAC=1;MLEAF=0.083;MQ=59.04;MQRankSum=-8.463;QD=1.67;ReadPosRankSum=-3.07;SOR=5.283	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,13:123:99:0|1:49958563_T_G:215,0,4546:49958563	5	0	1	0
chr19	50359508	50359508	C	T	exonic	NAPSA	.	nonsynonymous SNV	NAPSA:NM_004851:exon7:c.G931A:p.G311R	.	415	1102	3	2	0	7	0.00316599	.	.	.	2394654	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.415	0.0592814238826	.	0.000399361	0.0002	0.0006	0.0002	0	0	0.0002	0	0.0001	0.0001423	22	154602	rs202120944	0.0001	0.0001	9.937e-05	0.0001	0.0009	9.334e-05	8.817e-05	0.0003	0.0002	0.0003	6.708e-05	3.826e-05	0	0	0.0009	9.442e-05	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	9.692e-05	0.0001	0.0001	0.0003	0	6.53e-05	0	0	0	0.0034	0.0001	0.0014	0.0002	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.056646	0.999994	0.81001	D	3.085	0.87354	M	1.31	0.35405	T	-7.77	0.95842	D	0.868	0.86511	-0.1588	0.78701	T	0.312	0.68184	T	10	0.9017468	0.89537	D	0.059281	0.67611	D	0.415	0.72555	0.757	0.88648	0.332386209738	0.32853	0.7934772421123852	0.79300	0.740897167152	0.63259	0.439828664064	0.30554	T	0.401849	0.75904	T	-0.197799	0.21122	T	-0.205745	0.54101	T	0.953537940979004	0.64049	D	0.924208	0.72277	D	0.8958862	0.91018	0.81613415	0.89291	0.8958862	0.91019	0.81613415	0.89292	-10.023	0.74050	D	.	.	0.216	0.44566	B	.	.	3.744125	0.53625	23.4	0.99886667268218221	0.96204	0.86691	0.46026	D	AEFDBCIJ	0.806087	0.73049	D	0.44890015385568	0.64140	4.662058	0.22427257307953	0.51197	3.304	0.999999998380895	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	3.76	3.76	0.42368	7.268000	0.77870	4.233000	0.42663	0.333000	0.19617	1.000000	0.71638	0.999000	0.35428	0.491000	0.28814	0.0:1.0:0.0:0.0	13.409	0.60376	645	0.63593	Peptidase family A1 domain|Peptidase family A1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	511.83	34	chr19	50359508	.	C	T	511.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.124;DP=205;ExcessHet=0;FS=1.803;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.05;ReadPosRankSum=-1.277;SOR=0.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,18:34:99:0|1:50359505_C_A:522,0,472:50359505	5	0	1	0
chr19	52437820	52437820	G	C	exonic	ZNF534	.	nonsynonymous SNV	ZNF534:NM_001351679:exon4:c.G276C:p.W92C,ZNF534:NM_001143938:exon5:c.G360C:p.W120C,ZNF534:NM_001143939:exon5:c.G399C:p.W133C	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.001391624752	.	.	0.0002	0.0001	0	0	0	0.0002	0	0.0003	0.0001552	24	154602	rs202068094	0.0002	0.0002	0.0001	0.0002	0.0021	0.0002	0.0002	0.0012	0.0009	0	0.0001	0	0	0	0.0021	0.0002	0.0002	0.0005	0.0002	0.0002	0.0003	5.374e-05	0.0003	0.0001	0.0001	0.0002	0.0002	2.406e-05	0	6.542e-05	0	0	0	0.0136	0.0003	0	0.0002	0.077	0.47320	T	0.171	0.33554	T	0.873	0.56581	P	0.153	0.46845	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	3.29	0.06681	T	-0.16	0.09460	N	0.267	0.30233	-0.9811	0.34748	T	0.016	0.06473	T	9	0.055442452	0.06060	T	0.001392	0.02037	T	0.051	0.14325	0.444	0.50139	0.21737058555	0.21362	0.04925491404905237	0.04868	0.30691389174	0.32998	0.241959407926	0.02969	T	0.004075	0.03483	T	-0.498885	0.00580	T	-0.638234	0.09799	T	0.00845489685752844	0.00102	T	0.0241976	0.00146	T	0.07756127	0.17610	0.07106785	0.15175	0.07756127	0.17610	0.07106785	0.15175	-4.34	0.31512	T	.	.	0.229	0.50781	B	.;.	.;.	2.256250	0.28821	17.92	0.86020776751294925	0.16262	0.01154	0.04169	N	AEFI	0.049791	0.08637	N	-0.699454719231392	0.16038	0.8135897	-0.890320386445775	0.12323	0.6331872	1.39745870286967E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.1	0.00962	0.13401	-0.120000	0.10633	.	.	0.452000	0.21348	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2237:0.0:0.7763:0.0	4.999	0.13601	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.1667	3252.04	35	chr19	52437820	.	G	C	3252.04	.	AC=2;AF=0.167;AN=12;DP=283;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=30.11;SOR=1.232	GT:AD:DP:GQ:PL	1/1:0,108:108:99:3272,323,0	5	1	0	0
chr19	54221344	54221344	-	CGG	exonic	LILRB3	.	nonframeshift insertion	LILRB3:NM_001081450:exon5:c.693_694insCCG:p.G232_A630delinsPGPVLAPGQSLTLQCGSDVGYDRFVLYKEGERDFLQRPGQQPQAGLSQANFTLGPVSRSYGGQYRCYGAHNLSSEWSAPSDPLDILITGQIYDTVSLSAQPGPTVASGENVTLLCQSRGYFDTFLLTKEGAAHPPLRLRSMYGAHKYQAEFPMSPVTSAHAGTYRCYGSRSSNPHLLSFPSEPLELMVSGHSGGSSLPPTGPPSTPGLGRYLEVLIGVSVAFVLLLFLLLFLLLRRQRHSKHRTSDQRKTDFQRPAGAAETEPKDRGLLRRSSPAADVQEENLYAAVKDTQSEDRVELDSQQSPHDEDPQAVTYAPVKHSSPRREMASPPSSLSGEFLDTKDRQVEEDRQMDTEAAASEASQDVTYAQLHSLTLRRKATEPPPSQEGEPPAEPSIYATLAIH*,LILRB3:NM_001320960:exon5:c.693_694insCCG:p.G232delinsPG,LILRB3:NM_006864:exon5:c.693_694insCCG:p.S232_L604delinsPSLLTLQGPVLAPGQSLTLQCGSDVGYDRFVLYKEGERDFLQRPGQQPQAGLSQANFTLGPVSRSYGGQYRCYGAHNLSSEWSAPSDPLDILITGQIYDTVSLSAQPGPTVASGENVTLLCQSRGYFDTFLLTKEGAAHPPLRLRSMYGAHKYQAEFPMSPVTSAHAGTYRCYGSRSSNPHLLSFPSEPLELMVSGHSGGSSLPPTGPPSTPGLGRYLEVLIGVSVAFVLLLFLLLFLLLRRQRHSKHRTSDQRKTDFQRPAGAAETEPKDRGLLRRSSPAADVQEENLYAAVKDTQSEDRVELDSQSPHDEDPQAVTYAPVKHSSPRREMASPPSSLSGEFLDTKDRQVEEDRQMDTEAAASEASQDVTYAQLHSLTLRRKATEPPPSQEGEPPAEPSIYATLAIH*	.	35	1231	253	3	0	259	0.0951856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0028	0.0001	0.0001	0.0014	0.0001	0.0001	0.0011	0.0009	0.0009	0.0014	8.203e-05	0.0007	8.106e-05	0.0002	7.586e-05	0.0002	7.712e-05	0.0002	0.0038	0.0002	0.0002	0.0006	0.0001	0.0001	0.0003	0.0003	0.0005	0	0.0002	0	0.0006	0	0	2.989e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	353.99	43	chr19	54221344	.	C	CCGG	353.99	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.35;DP=278;ExcessHet=1.383;FS=58.304;MLEAC=3;MLEAF=0.25;MQ=32.77;MQRankSum=3.52;QD=3.03;ReadPosRankSum=-1.842;SOR=5.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,6:38:99:0|1:54221256_T_C:156,0,1326:54221256	3	0	3	0
chr19	54221348	54221348	-	ACTG	exonic	LILRB3	.	frameshift insertion	LILRB3:NM_001081450:exon5:c.689_690insCAGT:p.Q231Sfs*19,LILRB3:NM_001320960:exon5:c.689_690insCAGT:p.L230fs,LILRB3:NM_006864:exon5:c.689_690insCAGT:p.K230Nfs*26	.	40	1377	86	2	17	107	0.0316456	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.248e-05	0.0006	2.434e-05	2.058e-05	0.0002	1.611e-05	1.404e-05	0.0001	7.587e-05	0.0001	0.0002	4.099e-05	0.0001	0	0	1.308e-05	1.765e-05	0	1.354e-05	0.0012	0	2.771e-05	6.793e-05	2.25e-06	8.4e-07	.	.	2.549e-05	0	6.793e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	143.66	42	chr19	54221348	.	C	CACTG	143.66	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.938;DP=272;ExcessHet=1.383;FS=41.196;MLEAC=1;MLEAF=0.083;MQ=33.25;MQRankSum=3.07;QD=1.32;ReadPosRankSum=-2.426;SOR=4.973	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,4:37:69:0|1:54221256_T_C:69,0,1347:54221256	5	0	1	0
chr19	54241869	54241869	C	T	exonic;splicing	LILRA6;LILRA6	NM_001360167:exon4:c.357-1G>A	nonsynonymous SNV	LILRA6:NM_024318:exon4:c.G365A:p.S122N	.	58	167	0	1	0	2	0.00595238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1132595	8.881e-05	0.0068	9.456e-05	8.292e-05	0.0004	7.464e-05	6.974e-05	0.0002	0.0002	9.437e-05	7.548e-05	0	0.0004	0.0002	0.0003	7.421e-05	0.0001	5.035e-05	0.0001	0.0015	0.0001	0.0001	0.0004	5.963e-05	4.69e-05	7.325e-05	3.87e-05	8.289e-05	0	0.0003	0	0	0.0001	0	8.287e-05	0	0.0004	.	.	.	0.367	0.16619	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.06059	.	.	.	.	.	.	.	0.043040156	0.03113	T	.	.	.	.	.	.	.	.	.	0.10471436767554826	0.10401	.	.	.	.	.	0.021857	0.16951	T	.	.	.	.	.	.	.	.	.	0.0291971	0.00182	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.20547	B	.;.	.;.	-0.872101	0.00973	0.039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.183000	0.00316	.	.	-0.521000	0.04978	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	206.87	30	chr19	54241869	.	C	T	206.87	.	AC=2;AF=0.2;AN=10;DP=266;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=33.24;QD=29.12;SOR=3.611	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,5:5:15:1|1:54241869_C_T:225,15,0:54241869	4	1	0	1
chr19	56019390	56019390	A	G	exonic	NLRP5	.	nonsynonymous SNV	NLRP5:NM_153447:exon5:c.A614G:p.E205G	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00466194869051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	0.16038	T	0.019	0.59159	D	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	-0.7	0.72785	T	-0.83	0.22727	N	0.075	0.16168	-1.0243	0.22311	T	0.123	0.42505	T	9	0.06860572	0.09727	T	0.004662	0.11566	T	0.076	0.22200	0.19	0.10039	0.391000631824	0.38715	0.15181998129177426	0.15103	0.0229902821463	0.02324	0.426259040833	0.28697	T	0.05004	0.28480	T	-0.180349	0.23683	T	-0.496836	0.22677	T	0.0429042183343644	0.04220	T	0.226677	0.04439	T	0.03454653	0.03897	0.045053624	0.05975	0.03454653	0.03897	0.045053624	0.05974	-7.237	0.55746	T	.	.	0.077	0.17700	B	.;.	.;.	0.907023	0.12814	9.327	0.91744163380248667	0.21043	0.04340	0.09903	N	AEFGCI	0.023023	0.01227	N	-1.27349627599826	0.03997	0.1796322	-1.28480534456619	0.04635	0.2190986	8.16693424027641E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.04	1.02	0.19102	0.178000	0.16634	0.315000	0.17124	-0.075000	0.16284	0.375000	0.25965	0.000000	0.08366	0.004000	0.06068	0.8136:0.0:0.1864:0.0	3.941	0.08824	970	0.06235	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1193.83	33	chr19	56019390	.	A	G	1193.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.408;DP=290;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=54.36;MQRankSum=-1.863;QD=11.7;ReadPosRankSum=0.844;SOR=0.693	GT:AD:DP:GQ:PL	0/1:51,51:102:99:1204,0,1230	5	0	1	0
chr19	56027291	56027291	G	A	exonic	NLRP5	.	nonsynonymous SNV	NLRP5:NM_153447:exon7:c.G1058A:p.R353Q	.	433	1069	20	0	0	20	0.00926784	.	.	.	728414	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.120	0.032987503803	0.0003	0.00119808	0.0014	0.0004	8.945e-05	0	0	0.0003	0.0011	0.0090	0.001216	188	154602	rs200105264	0.0007	0.0007	0.0005	0.0009	0.0076	0.0006	0.0006	0.0072	0.0070	2.987e-05	0.0001	0	2.519e-05	5.847e-05	0.0035	0.0002	0.0006	0.0076	0.0004	0.0004	0.0003	0.0005	0.0062	0.0003	0.0003	0.0045	0.0039	0.0001	0	0	0	0.0002	9.423e-05	0.0034	0.0003	0.0009	0.0062	1.0	0.00964	T	1.0	0.01155	T	0.026	0.19406	B	0.013	0.16460	B	0.363135	0.13640	N	0.561653	1	0.08975	N	-1.765	0.00315	N	-1.49	0.81235	T	2.58	0.00215	N	0.088	0.06587	-0.8968	0.48312	T	0.103	0.37869	T	10	0.01415658	0.00298	T	0.032988	0.54662	D	0.120	0.33359	.	.	0.346315397577	0.34243	0.03571177643507743	0.03518	0.0230952022024	0.02342	0.226226270199	0.01700	T	0.047114	0.27625	T	-0.551972	0.00284	T	-0.56066	0.16315	T	0.0146261555987757	0.00301	T	0.687031	0.29593	T	0.023283573	0.01056	0.031968832	0.01862	0.023283573	0.01055	0.031968832	0.01862	-2.303	0.04571	T	.	.	0.062	0.01367	B	.;.	.;.	-0.059584	0.03888	0.850	0.29724645780104714	0.01591	0.00238	0.01325	N	AEFDBI	0.017234	0.00439	N	-1.58232079265303	0.01355	0.05905252	-1.49868595026149	0.02355	0.1082053	9.58895197955829E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.35	1.1	0.19578	0.080000	0.14657	-0.241000	0.10591	-0.162000	0.11565	0.000000	0.06391	0.000000	0.08366	0.032000	0.13371	0.7315:0.0:0.2685:0.0	4.951	0.13361	969	0.06854	NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase;NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.002518	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.003788	0.08333	2418.83	36	chr19	56027291	.	G	A	2418.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.604;DP=363;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=0.144;SOR=0.671	GT:AD:DP:GQ:PL	0/1:89,90:179:99:2429,0,2273	5	0	1	0
chr19	57135100	57135100	G	A	exonic	ZIM3	.	nonsynonymous SNV	ZIM3:NM_052882:exon5:c.C1237T:p.H413Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.265	0.00242135960057	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1437855488	4.788e-06	4.788e-06	2.722e-06	6.875e-06	0.0002	1.99e-06	1.28e-06	2.194e-05	1.43e-05	0	0	0	0	0	0.0002	8.993e-07	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.998	0.88582	D	.	.	.	.	0.796025	0.29170	N	3.565	0.93411	H	-0.27	0.67367	T	-5.98	0.89334	D	0.406	0.44666	-0.1115	0.79833	T	0.552	0.83611	D	9	0.8127805	0.80546	D	0.002421	0.04757	T	0.265	0.57870	0.759	0.88811	0.918155117722	0.91733	0.029286707511738497	0.02877	0.342830291506	0.36211	0.640543341637	0.58641	T	0.357293	0.72402	T	-0.121938	0.32807	T	-0.231404	0.51636	T	0.95606130361557	0.64663	D	0.911709	0.68653	D	0.6098852	0.73222	0.6839315	0.81419	0.6098852	0.73223	0.6839315	0.81420	-11.632	0.83012	D	.	.	0.965	0.88748	P	.	.	2.828245	0.37279	20.5	0.98398749596243651	0.41042	0.94692	0.62003	D	AEFDBI	0.504458	0.53602	D	0.344521842540384	0.58449	4.017408	0.0855036553727421	0.43816	2.675789	0.534931449931359	0.21205	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.71	2.71	0.31092	7.984000	0.87764	.	.	0.356000	0.20028	1.000000	0.71638	0.717000	0.26328	0.032000	0.13371	0.0:0.0:1.0:0.0	11.162	0.47746	964	0.07719	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	.	.	.	.	.	.	.	.	0.08333	607.83	43	chr19	57135100	.	G	A	607.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.014;DP=264;ExcessHet=0;FS=0.861;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.32;ReadPosRankSum=0.868;SOR=0.795	GT:AD:DP:GQ:PL	0/1:53,30:83:99:618,0,1448	5	0	1	0
chr19	57506990	57506990	G	T	exonic	ZNF773	.	stopgain	ZNF773:NM_001304334:exon4:c.G892T:p.G298X,ZNF773:NM_198542:exon4:c.G895T:p.G299X	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.042	0.02088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607496	0.97860	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	5.655632	0.92841	33	0.98773146333141637	0.46002	0.68074	0.33666	D	AEFGBI	0.106343	0.21221	N	0.355688288539546	0.59040	4.080353	0.00423383478564812	0.39912	2.373644	0.999456747058515	0.39788	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.24	1.24	0.20416	1.402000	0.34209	.	.	0.361000	0.20101	0.060000	0.21767	0.031000	0.21272	0.949000	0.49496	0.0:0.0:1.0:0.0	10.035	0.41297	982	0.03397	.;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1229.83	87	chr19	57506990	.	G	T	1229.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.336;DP=353;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=56.63;MQRankSum=0.534;QD=11.6;ReadPosRankSum=0.655;SOR=0.619	GT:AD:DP:GQ:PL	0/1:59,47:106:99:1240,0,1635	5	0	1	0
chr20	1239405	1239405	C	T	exonic	RAD21L1	.	nonsynonymous SNV	RAD21L1:NM_001384357:exon3:c.C101T:p.A34V,RAD21L1:NM_001384358:exon4:c.C101T:p.A34V,RAD21L1:NM_001384356:exon5:c.C377T:p.A126V,RAD21L1:NM_001136566:exon7:c.C740T:p.A247V,RAD21L1:NM_001384355:exon7:c.C740T:p.A247V	.	425	1088	9	0	0	9	0.00411899	0.0016	0.112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	.	0.00259585	0.0060	0	0.0025	0	0	0	0	0.0168	0.0009702	150	154602	rs555126409	0.0010	0.0010	0.0005	0.0015	0.0165	0.0009	0.0009	0.0157	0.0154	3.216e-05	0	0	2.812e-05	0	0.0009	1.318e-05	0.0009	0.0165	0.0005	0.0005	0.0002	0.0008	0.0143	0.0004	0.0003	0.0116	0.0106	0	0	6.541e-05	0	0	0	0	0	0	0.0143	0.389	0.14400	T	0.334	0.18340	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-1.245	0.00777	N	-0.57	0.71307	T	-0.01	0.10480	N	0.022	0.00407	-1.0265	0.21593	T	0.098	0.36625	T	9	0.0035736263	0.00065	T	.	.	.	0.064	0.18567	0.445	0.50302	0.0297737177859	0.01360	0.06874147865601203	0.06812	.	.	0.255687117577	0.04390	T	0.023591	0.17979	T	-0.644883	0.00078	T	-0.685481	0.06654	T	0.0107316719915977	0.00151	T	0.517348	0.16736	T	0.028105818	0.02097	0.037762914	0.03500	0.028105818	0.02097	0.037762914	0.03500	-3.282	0.13506	T	.	.	0.063	0.01470	B	.;.	.;.	0.794094	0.11644	8.231	0.58200452319257912	0.05939	0.00167	0.00991	N	AEFGI	0.021704	0.00997	N	-1.44702618783785	0.02240	0.09871594	-1.38047728498082	0.03460	0.1614571	0.00118678738408575	0.08314	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.21	-0.0328	0.13231	0.676000	0.24927	0.219000	0.16052	-0.985000	0.01878	0.110000	0.22992	0.000000	0.08366	0.332000	0.25247	0.1504:0.3347:0.0:0.5149	4.217	0.09995	895	0.25842	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002481	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.038462	0.08333	605.83	33	chr20	1239405	.	C	T	605.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.16;DP=222;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=1.07;SOR=0.811	GT:AD:DP:GQ:PL	0/1:27,23:50:99:616,0,753	5	0	1	0
chr20	2865421	2865421	G	A	exonic	VPS16	.	nonsynonymous SNV	VPS16:NM_080413:exon18:c.G1765A:p.A589T,VPS16:NM_022575:exon22:c.G2197A:p.A733T	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0120488276617	.	0.000199681	6.63e-05	0	0	0.0002	0.0002	1.508e-05	0.0022	0.0001	5.82e-05	9	154602	rs529582383	3.831e-05	3.831e-05	2.314e-05	5.363e-05	0.0007	3.025e-05	2.719e-05	0.0002	0.0001	2.987e-05	2.236e-05	0	0.0002	0	0.0007	1.259e-05	9.934e-05	0.0003	7.876e-05	7.873e-05	5.139e-05	0.0001	0.0010	4.492e-05	3.509e-05	0.0004	0.0003	2.405e-05	0	0	0	0.0008	0	0	1.47e-05	0.0005	0.0010	0.304	0.14303	T	0.339	0.18071	T	0.995	0.67487	D	0.903	0.64103	P	0.000000	0.84330	D	0.049358	1	0.81001	D	1.66	0.42513	L	0.96	0.42888	T	-0.93	0.39503	N	0.7	0.71232	-0.8245	0.53651	T	0.210	0.56933	T	10	0.36082017	0.52717	T	0.012049	0.30270	T	0.123	0.34020	0.674	0.81200	0.494433119893	0.49078	0.6441469812253703	0.64349	0.73719295691	0.63037	0.489508867264	0.37370	T	0.074577	0.34972	T	-0.264995	0.12321	T	-0.326275	0.41882	T	0.133033378778139	0.15660	T	0.952205	0.81731	D	0.3167183	0.54361	0.23870814	0.49200	0.3167183	0.54361	0.23870814	0.49199	-7.755	0.59389	D	.	.	0.193	0.41264	B	.;.	.;.	4.807511	0.78178	26.8	0.99846071452540563	0.92576	0.89557	0.50097	D	AEFDBCI	0.606754	0.59698	D	0.536378530525652	0.69258	5.33131	0.591081021750271	0.74299	6.113425	0.9987682253811	0.37623	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	4.870000	0.62730	9.932000	0.82588	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	17.198	0.86778	480	0.77422	Vps16, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	3707.04	35	chr20	2865421	.	G	A	3707.04	.	AC=2;AF=0.167;AN=12;DP=284;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=33.4;SOR=1.588	GT:AD:DP:GQ:PL	1/1:0,111:111:99:3727,333,0	5	1	0	0
chr20	5955179	5955179	A	G	exonic	MCM8	.	nonsynonymous SNV	MCM8:NM_001281520:exon5:c.A414G:p.I138M,MCM8:NM_001281521:exon5:c.A414G:p.I138M,MCM8:NM_001281522:exon5:c.A414G:p.I138M,MCM8:NM_032485:exon5:c.A414G:p.I138M,MCM8:NM_182802:exon5:c.A414G:p.I138M	.	443	1044	34	1	0	36	0.0169492	.	.	.	705575	not_provided|MCM8-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.057	.	0.0033	0.0071885	0.0067	0.0007	0.0009	0.0002	0.0008	0.0045	0.0077	0.0291	0.0060866	941	154602	rs145133959	0.0039	0.0040	0.0031	0.0048	0.0278	0.0039	0.0038	0.0269	0.0265	0.0004	0.0013	0.0112	7.564e-05	0.0011	0.0146	0.0023	0.0051	0.0278	0.0032	0.0032	0.0030	0.0034	0.0248	0.0030	0.0029	0.0212	0.0199	0.0004	0.0022	0.0013	0.0127	0	0.0003	0.0274	0.0038	0.0052	0.0248	0.13	0.29288	T	0.231	0.26145	T	0.015	0.22573	B	0.06	0.26717	B	0.000057	0.53742	D	0.195954	0.993295	0.41895	D	2.14	0.59869	M	4.02	0.03178	T	-0.29	0.11728	N	0.276	0.31253	-0.9706	0.37073	T	0.013	0.04843	T	10	0.0059596	0.00134	T	.	.	.	0.057	0.16321	.	.	0.220303561663	0.21668	0.4778002110989415	0.47700	0.137519854837	0.15505	0.410954922438	0.26590	T	0.015874	0.13230	T	-0.574232	0.00209	T	-0.575991	0.14904	T	0.00718996981402981	0.00082	T	0.709529	0.32034	T	0.040518828	0.05797	0.040160395	0.04276	0.04858098	0.08489	0.040160395	0.04276	-5.801	0.44583	T	0.14989340546729085	0.17564	0.089	0.27039	B	.;.;.;.;.	.;.;.;.;.	1.016287	0.13959	10.52	0.68398722760211073	0.08646	0.75787	0.37125	D	AEFBI	0.093057	0.18834	N	-0.588157432002113	0.19303	1.009215	-0.518811133093924	0.21642	1.171767	0.989582320041094	0.31872	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.56	1.95	0.25130	0.503000	0.22318	1.452000	0.26614	-0.092000	0.16129	0.996000	0.39380	0.999000	0.35428	0.856000	0.40543	0.4529:0.3645:0.0654:0.1171	4.339	0.10538	622	0.65860	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.018127	0.005051	0.014946	0.023392	0.000000	0.034483	0.015244	0.034091	0.1667	1735.04	34	chr20	5955179	.	A	G	1735.04	.	AC=2;AF=0.167;AN=12;DP=232;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=29.91;SOR=0.836	GT:AD:DP:GQ:PL	1/1:0,58:58:99:1755,174,0	5	1	0	0
chr20	25685642	25685642	C	G	exonic	ZNF337	.	nonsynonymous SNV	ZNF337:NM_001290261:exon3:c.G175C:p.E59Q,ZNF337:NM_015655:exon4:c.G175C:p.E59Q	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00160653982589	0.0002	0.000399361	0.0002	0.0004	0	0	0	4.497e-05	0.0011	0.0008	0.0001488	23	154602	rs144914818	7.456e-05	7.456e-05	4.901e-05	0.0001	0.0007	6.315e-05	5.873e-05	0.0005	0.0005	0.0001	0	0	0	0	0.0002	3.777e-05	6.623e-05	0.0007	8.535e-05	8.53e-05	0.0001	4.028e-05	0.0008	4.954e-05	3.96e-05	0.0003	0.0002	0.0001	0	6.535e-05	0	0	0	0	1.47e-05	0.0009	0.0008	0.012	0.54683	D	0.141	0.33442	T	0.98	0.59353	D	0.857	0.61067	P	.	.	.	.	1	0.30030	N	1.3	0.32576	L	5.59	0.00834	T	-1.3	0.32590	N	0.147	0.15469	-0.8414	0.52553	T	0.005	0.01761	T	9	0.028848052	0.01014	T	0.001607	0.02600	T	0.053	0.14996	.	.	0.31291088546	0.30898	0.07870271512194264	0.07805	0.164740967889	0.18588	0.424884468317	0.28509	T	0.009698	0.08812	T	-0.609343	0.00128	T	-0.745463	0.03665	T	0.0716144815087318	0.08875	T	0.659934	0.26896	T	0.1442763	0.33124	0.09017919	0.21131	0.1442763	0.33124	0.09017919	0.21131	-6.128	0.47338	T	.	.	0.142	0.31100	B	.;.	.;.	1.740041	0.22144	15.50	0.99007047239060253	0.50273	0.16823	0.19565	N	AEFBHCI	0.026732	0.02059	N	-0.161775157705436	0.34735	1.986299	-0.309518603190487	0.27789	1.544593	0.999830352206965	0.43792	0.741868	0.97996	0	0.774882	0.99574	0	0.691665	0.62940	0	0.635551	0.53088	0	.	.	1.85	1.85	0.24418	0.216000	0.17370	-20.000000	0.00162	0.441000	0.21086	0.000000	0.06391	0.000000	0.08366	0.995000	0.73285	0.0:1.0:0.0:0.0	8.999	0.35231	735	0.53711	Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	828.83	35	chr20	25685642	.	C	G	828.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.665;DP=268;ExcessHet=0;FS=2.888;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.53;ReadPosRankSum=1.06;SOR=0.498	GT:AD:DP:GQ:PL	0/1:50,37:87:99:839,0,1370	5	0	1	0
chr20	31783865	31783865	G	A	exonic	TPX2	.	nonsynonymous SNV	TPX2:NM_012112:exon12:c.G1357A:p.E453K	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0211718752316	7.7e-05	.	2.471e-05	0	0	0	0	1.498e-05	0	0.0001	3.23e-05	5	154602	rs142374319	2.882e-05	2.941e-05	2.867e-05	2.897e-05	3.534e-05	2.158e-05	1.914e-05	2.372e-05	2.105e-05	3.022e-05	2.322e-05	0	0	0	0	3.24e-05	1.66e-05	3.534e-05	1.972e-05	1.97e-05	3.855e-05	0	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	0.076	0.34982	T	0.076	0.74150	T	0.865	0.47557	P	0.648	0.52381	P	0.000098	0.51296	D	0.167646	0.999999	0.58761	D	2.46	0.71463	M	1.42	0.33189	T	-1.82	0.42763	N	0.431	0.47022	-1.0183	0.24269	T	0.109	0.39439	T	10	0.15651464	0.29476	T	0.021172	0.43897	T	0.084	0.24469	.	.	0.228066490088	0.22430	0.425247437258685	0.42441	0.294378152891	0.31862	0.48223054409	0.36364	T	0.046959	0.27581	T	-0.198028	0.21090	T	-0.316724	0.42932	T	0.651890218257904	0.38543	D	0.884012	0.60664	D	0.19205257	0.40859	0.18075202	0.40895	0.19205257	0.40859	0.18075202	0.40894	-9.094	0.68299	D	.	.	0.085	0.42777	B	.;.	.;.	4.812937	0.78317	26.9	0.99791464147188214	0.87750	0.96719	0.70574	D	AEFBI	0.635431	0.61494	D	0.306276681868229	0.56470	3.81176	0.302855006206413	0.55707	3.733543	0.999027117634046	0.38237	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	5.49	4.54	0.55220	5.669000	0.67750	9.957000	0.82769	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.911000	0.44643	0.0755:0.0:0.9245:0.0	13.352	0.60047	674	0.60593	TPX2 central domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	847.83	37	chr20	31783865	.	G	A	847.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.927;DP=247;ExcessHet=0;FS=1.929;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=2.13;SOR=0.49	GT:AD:DP:GQ:PL	0/1:35,37:72:99:858,0,896	5	0	1	0
chr20	33359095	33359095	C	T	exonic	CDK5RAP1	.	nonsynonymous SNV	CDK5RAP1:NM_001278168:exon13:c.G1481A:p.R494K,CDK5RAP1:NM_001278167:exon14:c.G1709A:p.R570K,CDK5RAP1:NM_001278169:exon14:c.G1631A:p.R544K,CDK5RAP1:NM_016082:exon14:c.G1715A:p.R572K,CDK5RAP1:NM_016408:exon14:c.G1712A:p.R571K,CDK5RAP1:NM_001365728:exon15:c.G1754A:p.R585K	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00411516469161	0.0005	0.000798722	0.0006	0.0010	0	0	0	4.504e-05	0.0011	0.0035	0.0004981	77	154602	rs140207780	0.0003	0.0003	0.0002	0.0004	0.0035	0.0003	0.0003	0.0032	0.0031	0.0008	0	0	2.519e-05	0	0.0003	5.126e-05	0.0005	0.0035	0.0003	0.0003	0.0003	0.0003	0.0035	0.0002	0.0002	0.0022	0.0018	0.0006	0	0.0002	0	0	0	0.0034	2.941e-05	0.0009	0.0035	1.0	0.00964	T	0.319	0.19188	T	0.0	0.02946	B	0.001	0.06944	B	0.000002	0.62929	N	0.135620	0.97068	0.26445	N	-0.365	0.03101	N	0.93	0.44065	T	0.76	0.06253	N	0.067	0.07262	-1.0074	0.27727	T	0.037	0.16029	T	10	0.03800693	0.02191	T	0.004115	0.09838	T	0.108	0.30607	.	.	0.192905019026	0.18896	0.41160082409175275	0.41076	0.249098477795	0.27477	0.312568902969	0.12295	T	0.009094	0.08305	T	-0.558215	0.00260	T	-0.576086	0.14896	T	0.000578380564182195	0.00005	T	0.706929	0.31753	T	0.028916532	0.02304	0.05468152	0.09451	0.028916532	0.02303	0.05468152	0.09450	-3.34	0.26853	T	.	.	0.083	0.09094	B	.;.;.;.	.;.;.;.	0.360372	0.07329	3.945	0.39661849657189263	0.02750	0.09757	0.15440	N	AEFDBI	0.050751	0.08899	N	-1.26071805829889	0.04160	0.1872162	-1.13508678608745	0.07039	0.3409255	9.48476947217936E-5	0.04910	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.2	0.385	0.15471	0.370000	0.20166	0.426000	0.18273	-0.898000	0.02344	0.954000	0.33273	0.966000	0.29516	0.007000	0.07825	0.0:0.2281:0.0:0.7719	9.248	0.36699	50	0.97644	.;TRAM domain|TRAM domain|Radical SAM|Radical SAM;TRAM domain|TRAM domain|Radical SAM|Radical SAM;TRAM domain|TRAM 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	0.002018	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.08333	874.83	33	chr20	33359095	.	C	T	874.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.18;DP=238;ExcessHet=0;FS=2.061;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=-0.584;SOR=1.022	GT:AD:DP:GQ:PL	0/1:32,33:65:99:885,0,679	5	0	1	0
chr20	34077063	34077063	G	A	exonic	RALY	.	nonsynonymous SNV	RALY:NM_007367:exon7:c.G646A:p.G216S,RALY:NM_016732:exon8:c.G694A:p.G232S	.	406	1070	40	6	0	52	0.0237226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	.	.	.	0.0085	0	0.0014	0	0	0.0010	0.0064	0.0464	0.0054527	843	154602	rs779745009	0.0033	0.0033	0.0021	0.0047	0.0438	0.0033	0.0032	0.0427	0.0422	0.0002	0.0009	0.0011	0.0002	0.0001	0.0138	0.0006	0.0041	0.0438	0.0022	0.0022	0.0015	0.0028	0.0481	0.0020	0.0019	0.0430	0.0410	0.0003	0	0.0010	0.0017	0.0004	0	0.0068	0.0008	0.0019	0.0481	0.21	0.91255	T	0.27	0.51737	T	0.005	0.17332	B	0.005	0.11217	B	0.571835	0.11231	N	0.722516	0.999999	0.08975	N	1.7	0.43825	L	-2.15	0.86481	D	0.35	0.11913	N	0.245	0.27673	-0.7941	0.55491	T	0.350	0.71383	T	10	0.0029756129	0.00048	T	.	.	.	0.148	0.39182	.	.	0.525901189516	0.52236	0.3463686870031979	0.34550	0.541908027048	0.51315	0.645334661007	0.59323	T	0.077549	0.35681	T	-0.0102055	0.50238	T	-0.252436	0.49577	T	0.0158187146512762	0.00370	T	0.452355	0.19809	T	0.03201276	0.03147	0.038387362	0.03697	0.03201276	0.03147	0.038387362	0.03697	-6.098	0.47207	T	.	.	0.076	0.10449	B	.;.;.;.	.;.;.;.	-0.071250	0.03814	0.812	0.67360986287951718	0.08332	0.12095	0.17056	N	AEFDBCI	0.052155	0.09281	N	-1.13291267909635	0.06065	0.2782377	-1.13330919367617	0.07071	0.3426133	0.953134877470914	0.28056	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	3.37	2.42	0.28720	-0.028000	0.12299	.	.	-1.756000	0.00682	0.001000	0.13787	.	.	0.000000	0.00833	0.1348:0.0:0.8652:0.0	6.48	0.21256	135	0.94622	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011640	0.005051	0.005435	0.005848	0.000000	0.000000	0.012422	0.045455	0.08333	853.83	93	chr20	34077063	.	G	A	853.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.795;DP=389;ExcessHet=0;FS=2.125;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.546;SOR=1.075	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,35:68:99:0|1:34077058_C_CCAG:864,0,817:34077058	5	0	1	0
chr20	34852409	34852409	G	C	exonic	GGT7	.	nonsynonymous SNV	GGT7:NM_001351702:exon11:c.C1449G:p.D483E,GGT7:NM_178026:exon11:c.C1449G:p.D483E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.0112495980913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	6.02e-05	1.362e-06	5.502e-06	2.988e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	2.988e-05	0	0	0	0	0	3.599e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.012	0.63918	D	0.994	0.66517	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	0.999841	0.49770	D	2.215	0.62545	M	1.98	0.21865	T	-1.73	0.41046	N	0.499	0.53181	-1.0404	0.17192	T	0.128	0.43585	T	10	0.5826987	0.65938	D	0.01125	0.28682	T	0.296	0.61616	0.689	0.82653	0.228066490088	0.22430	0.82941257752094	0.82899	0.68760950996	0.60391	0.738000631332	0.72679	T	0.103498	0.41220	T	0.0708259	0.60949	D	-0.13604	0.60460	T	0.885277701002196	0.53559	D	0.910309	0.68205	D	0.41792053	0.61953	0.41181666	0.65402	0.41792053	0.61953	0.41181666	0.65402	-4.579	0.31907	T	.	.	0.782	0.76474	P	.	.	5.638633	0.92727	33	0.99733629509333355	0.82975	0.97405	0.74540	D	AEFDBI	0.720442	0.67100	D	0.820974805350757	0.87399	9.204616	0.835720227276759	0.92153	11.26631	0.92021159446374	0.26625	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	6.17	6.17	0.99707	4.488000	0.60028	9.966000	0.82830	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0685:0.0:0.9315:0.0	13.996	0.63912	522	0.74218	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	714.03	118	chr20	34852409	.	G	C	714.03	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.086;DP=729;ExcessHet=3.1439;FS=260.158;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.68;ReadPosRankSum=1.58;SOR=9.773	GT:AD:DP:GQ:PL	0/1:61,50:115:99:432,0,878	2	0	4	0
chr20	34914155	34914155	C	A	exonic	ACSS2	.	nonsynonymous SNV	ACSS2:NM_001076552:exon6:c.C703A:p.Q235K,ACSS2:NM_001242393:exon6:c.C418A:p.Q140K,ACSS2:NM_018677:exon6:c.C703A:p.Q235K	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	0.0002	0.00239617	0.0011	0.0004	0	0	0	3.008e-05	0.0011	0.0075	0.0009185	142	154602	rs140958101	0.0004	0.0004	0.0003	0.0006	0.0062	0.0004	0.0004	0.0058	0.0056	0.0002	0	0	0	0	0.0002	4.227e-05	0.0006	0.0062	0.0003	0.0003	0.0003	0.0003	0.0070	0.0002	0.0002	0.0052	0.0045	0.0001	0	6.536e-05	0	0	0	0	2.94e-05	0.0009	0.0070	0.733	0.03972	T	0.682	0.06738	T	0.0	0.02946	B	0.001	0.04355	B	0.000594	0.43095	D	0.270397	0.904172	0.36245	D	0.585	0.15399	N	1.1	0.39050	T	-1.05	0.28497	N	0.253	0.28616	-1.0242	0.22344	T	0.046	0.19760	T	10	0.008834451	0.00200	T	.	.	.	0.055	0.15663	.	.	0.284150004643	0.28039	0.45457420470967724	0.45375	0.238849273163	0.26437	0.323539853096	0.13957	T	0.090551	0.38608	T	-0.542122	0.00325	T	-0.548885	0.17432	T	0.00493784663814429	0.00053	T	0.906909	0.67118	D	0.06748039	0.14615	0.08112738	0.18412	0.087380625	0.20344	0.06753324	0.13983	-1.795	0.03688	T	.	.	0.072	0.04119	B	.;.	.;.	2.472105	0.31864	18.87	0.69946968909606544	0.09136	0.85960	0.45156	D	AEFBI	0.275338	0.39032	N	-0.678504883934289	0.16635	0.8492888	-0.430552584947336	0.24106	1.318187	0.998558738295425	0.37186	0.706298	0.61202	0	0.709663	0.81188	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.24	3.21	0.35933	2.173000	0.42099	4.897000	0.45822	-0.184000	0.09925	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0906:0.4608:0.4487:0.0	8.76	0.33829	.	.	AMP-dependent synthetase/ligase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1166.83	36	chr20	34914155	.	C	A	1166.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.77;DP=278;ExcessHet=0;FS=2.767;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=-1.198;SOR=0.992	GT:AD:DP:GQ:PL	0/1:48,41:89:99:1177,0,1190	5	0	1	0
chr20	35618119	35618119	C	T	exonic	SPAG4	.	nonsynonymous SNV	SPAG4:NM_001317931:exon5:c.C340T:p.P114S,SPAG4:NM_003116:exon5:c.C571T:p.P191S	.	430	1046	43	3	0	49	0.0228865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	0.0006	0.0105831	0.0054	9.846e-05	0.0009	0.0001	0	0.0009	0.0078	0.0353	0.0047412	733	154602	rs140056855	0.0027	0.0027	0.0017	0.0037	0.0329	0.0026	0.0026	0.0319	0.0315	0.0003	0.0008	0.0021	0.0001	3.744e-05	0.0106	0.0007	0.0033	0.0329	0.0020	0.0020	0.0016	0.0024	0.0397	0.0018	0.0017	0.0351	0.0333	0.0002	0	0.0017	0.0026	0.0008	0	0.0034	0.0008	0.0033	0.0397	0.047	0.50676	D	0.196	0.27943	T	0.483	0.36807	P	0.122	0.32387	B	0.009356	0.30401	N	0.272384	0.543505	0.31393	N	1.87	0.49600	L	2.3	0.21119	T	-0.88	0.28497	N	0.344	0.38541	-1.0369	0.18264	T	0.044	0.18906	T	10	0.002945125	0.00048	T	.	.	.	0.022	0.04323	.	.	0.43965937752	0.43585	0.6364650575286341	0.63580	0.678647379448	0.59893	0.366997569799	0.20400	T	0.023422	0.17879	T	-0.549546	0.00293	T	-0.537094	0.18583	T	0.00899036296490133	0.00112	T	0.775222	0.40690	T	0.0676733	0.14677	0.08424283	0.19364	0.0676733	0.14676	0.08424283	0.19364	-3.227	0.12813	T	.	.	0.130	0.27762	B	.;.	.;.	2.679779	0.34951	19.77	0.9933598505083997	0.59973	0.67838	0.33579	D	AEFDBCI	0.197722	0.32462	N	-0.0592127924215001	0.39192	2.307264	-0.00617359354353439	0.39435	2.338182	0.99999398983417	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.619478	0.44681	0	0.627883	0.49187	0	.	.	4.14	3.2	0.35826	0.996000	0.29320	1.925000	0.29735	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.861000	0.40843	0.0:0.8882:0.0:0.1118	7.767	0.28147	472	0.77968	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.002717	0.005848	0.000000	0.000000	0.006098	0.034091	0.08333	433.83	34	chr20	35618119	.	C	T	433.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.211;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.96;ReadPosRankSum=0.176;SOR=0.741	GT:AD:DP:GQ:PL	0/1:13,16:29:99:444,0,325	5	0	1	0
chr20	39038505	39038505	T	C	exonic	DHX35	.	nonsynonymous SNV	DHX35:NM_001190809:exon21:c.T1981C:p.S661P,DHX35:NM_021931:exon22:c.T2074C:p.S692P	.	427	1069	25	1	0	27	0.0124711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	.	0.0070	0.00758786	0.0092	0.0020	0.0032	0.0002	0.0048	0.0092	0.0056	0.0246	0.0088227	1364	154602	rs146274322	0.0085	0.0085	0.0079	0.0092	0.0229	0.0084	0.0084	0.0221	0.0218	0.0014	0.0036	0.0085	0.0001	0.0060	0.0120	0.0082	0.0088	0.0229	0.0063	0.0063	0.0064	0.0061	0.0225	0.0059	0.0058	0.0191	0.0178	0.0015	0	0.0051	0.0124	0.0002	0.0041	0.0102	0.0089	0.0028	0.0225	0.025	0.48186	D	0.083	0.41405	T	0.915	0.50599	P	0.255	0.39216	B	0.028481	0.25594	N	0.436440	0.999924	0.58761	D	1.875	0.49914	L	4.02	0.32958	T	-0.82	0.34198	N	0.288	0.32591	-1.0733	0.08702	T	0.071	0.28773	T	10	0.0060763657	0.00137	T	.	.	.	0.145	0.38592	.	.	0.519675384768	0.51611	0.44099468402265024	0.44016	0.313503313738	0.33640	0.624079525471	0.56304	T	0.007988	0.07355	T	-0.175356	0.24431	T	-0.00573911	0.69964	D	0.0229375191028442	0.01015	T	0.810219	0.47570	T	0.1994504	0.41885	0.21744236	0.46410	0.1994504	0.41885	0.21744236	0.46409	-4.734	0.33813	T	.	.	0.090	0.43088	B	.;.;.;.	.;.;.;.	3.976553	0.58430	24.0	0.99791260496374268	0.87661	0.96421	0.69056	D	AEFBI	0.670895	0.63782	D	0.426617905938296	0.62889	4.512632	0.482390742663397	0.66825	5.002606	0.999999186857235	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.46	5.46	0.80021	5.077000	0.64249	7.808000	0.69345	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:0.0:0.0:1.0	13.358	0.60082	927	0.17636	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.005051	0.008152	0.005848	0.050000	0.008621	0.012195	0.026515	0.08333	579.83	36	chr20	39038505	.	T	C	579.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.562;DP=240;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=-0.234;SOR=0.784	GT:AD:DP:GQ:PL	0/1:24,23:47:99:590,0,628	5	0	1	0
chr20	44051315	44051315	A	G	exonic	TOX2	.	nonsynonymous SNV	TOX2:NM_001098796:exon4:c.A295G:p.M99V,TOX2:NM_001098797:exon4:c.A421G:p.M141V,TOX2:NM_001098798:exon4:c.A448G:p.M150V,TOX2:NM_032883:exon5:c.A295G:p.M99V	.	424	1048	47	3	0	53	0.0246626	.	.	.	705498	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.132	.	0.0048	0.00539137	0.0069	0.0017	0.0062	0.0030	0.0015	0.0085	0.0164	0.0079	0.0064682	1000	154602	rs41279272	0.0061	0.0061	0.0059	0.0063	0.0340	0.0060	0.0060	0.0301	0.0286	0.0011	0.0066	0.0385	0.0021	0.0014	0.0340	0.0055	0.0091	0.0070	0.0057	0.0057	0.0058	0.0056	0.0070	0.0054	0.0053	0.0065	0.0063	0.0011	0	0.0070	0.0415	0.0029	0.0010	0.0411	0.0070	0.0133	0.0068	0.012	0.57480	D	0.039	0.51112	D	0.325	0.33132	B	0.06	0.26717	B	0.014830	0.28418	N	0.426812	0.990814	0.41242	D	1.65	0.42232	L	1.09	0.39223	T	-1.29	0.35194	N	0.718	0.72031	-0.9537	0.40327	T	0.045	0.19316	T	10	0.005722612	0.00127	T	.	.	.	0.132	0.35948	.	.	0.415955377315	0.41215	0.5655904180921868	0.56486	0.59240676416	0.54630	0.716925263405	0.69599	T	0.037393	0.24461	T	-0.330464	0.06077	T	-0.24346	0.50460	T	0.0154007402693536	0.00344	T	0.887611	0.61581	D	0.23386055	0.46197	0.26654023	0.52500	0.23386055	0.46197	0.26654023	0.52499	-4.574	0.31982	T	.	.	0.209	0.51874	B	.;.;.;.	.;.;.;.	3.473202	0.48468	22.6	0.87758277527904116	0.17460	0.98286	0.81270	D	AEFDGBI	0.561569	0.56951	D	-0.105033052101989	0.37172	2.158918	0.0124872738930544	0.40293	2.402406	0.480808113755305	0.20784	0.615465	0.37627	0	0.633656	0.55848	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	5.58	5.58	0.84361	2.220000	0.42549	11.119000	0.86504	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.8443:0.1556:0.0:0.0	11.016	0.46905	684	0.59539	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.026183	0.010101	0.028533	0.040936	0.000000	0.051724	0.021341	0.026515	0.08333	576.83	29	chr20	44051315	.	A	G	576.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.926;DP=243;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-0.144;SOR=0.76	GT:AD:DP:GQ:PL	0/1:30,23:53:99:587,0,792	5	0	1	0
chr20	46174785	46174785	C	-	exonic	CDH22	.	frameshift deletion	CDH22:NM_021248:exon12:c.2208delG:p.P737Rfs*167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	827.79	34	chr20	46174784	.	GC	G	827.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.168;DP=237;ExcessHet=0;FS=2.257;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=-0.724;SOR=1.07	GT:AD:DP:GQ:PL	0/1:35,30:65:99:838,0,980	5	0	1	0
chr20	46541318	46541318	C	T	exonic	OCSTAMP	.	nonsynonymous SNV	OCSTAMP:NM_080721:exon3:c.G1657A:p.V553M	.	426	1085	10	1	0	12	0.00549954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0039	0.00479233	0.0092	0.0005	0	0	0.0021	0.0045	0	0.0191	0.0021863	338	154602	rs41283036	0.0059	0.0063	0.0047	0.0068	0.0174	0.0057	0.0056	0.0166	0.0162	0.0010	0.0009	0.0009	9.327e-05	0.0008	0.0070	0.0062	0.0042	0.0174	0.0041	0.0041	0.0041	0.0041	0.0166	0.0038	0.0037	0.0137	0.0126	0.0011	0	0.0010	0.0009	0	0.0003	0.0034	0.0069	0.0028	0.0166	0.126	0.27194	T	0.0	0.92824	D	0.235	0.30743	B	0.041	0.23986	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.55	0.54728	T	-0.04	0.07590	N	0.106	0.09066	-1.0447	0.15913	T	0.052	0.22153	T	9	0.0036742687	0.00067	T	.	.	.	0.053	0.14996	.	.	0.0666544352282	0.05500	0.4439321696129841	0.44311	.	.	0.352969288826	0.18358	T	0.002521	0.01914	T	-0.55353	0.00278	T	-0.553604	0.16982	T	0.00855540529876737	0.00104	T	0.538946	0.18179	T	0.027286893	0.01899	0.051932193	0.08458	0.027286893	0.01899	0.051932193	0.08457	-4.371	0.29161	T	.	.	0.121	0.25199	B	.	.	1.962532	0.24926	16.58	0.94911563024116052	0.25775	0.06835	0.12859	N	AEFDGBI	0.026489	0.01998	N	-1.00310979624797	0.08538	0.4007426	-1.02828012472796	0.09166	0.4545069	0.640205974196257	0.22046	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.34	2.39	0.28492	0.380000	0.20331	-0.022000	0.12912	-0.202000	0.08738	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.0:0.8706:0.0:0.1294	6.752	0.22679	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002494	0.000000	0.000000	0.004505	0.000000	0.000000	0.000000	0.000000	0.08333	1532.83	34	chr20	46541318	.	C	T	1532.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.406;DP=332;ExcessHet=0;FS=0.683;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=0.003;SOR=0.593	GT:AD:DP:GQ:PL	0/1:58,61:119:99:1543,0,1584	5	0	1	0
chr20	62310913	62310913	G	T	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon74:c.C10270A:p.R3424S	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.155783112186	.	.	9.508e-06	0	0	0	0	1.743e-05	0	0	6.5e-06	1	154602	rs373853818	1.166e-05	1.3e-05	6.824e-06	1.654e-05	0.0014	7.1e-06	5.81e-06	0.0007	0.0005	0	0	0	0	0	0.0014	4.499e-06	6.643e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.40832	D	0.062	0.45318	T	0.321	0.33029	B	0.158	0.34617	B	0.945492	0.07622	N	1.025380	1	0.08975	N	2.34	0.67151	M	-1.16	0.78082	T	-1.53	0.37178	N	0.206	0.22870	-0.7934	0.55532	T	0.340	0.70632	T	10	0.36989832	0.53393	T	0.155783	0.83666	D	0.241	0.54641	0.556	0.67409	0.743572213059	0.74127	0.2939134396290105	0.29304	.	.	0.247187674046	0.03477	T	0.146258	0.48377	T	-0.000301122	0.51613	T	-0.238209	0.50973	T	0.129793464198696	0.15363	T	0.39686	0.10010	T	0.0955995	0.22502	0.1051233	0.25264	0.0955995	0.22502	0.1051233	0.25264	-4.191	0.26621	T	.	.	0.151	0.33319	B	.	.	1.735731	0.22091	15.48	0.91223062748748673	0.20480	0.24979	0.22560	N	AEFDBCI	0.166127	0.29268	N	-0.68107271899061	0.16561	0.8448829	-0.763056589376405	0.15402	0.8098649	0.999405404606537	0.39524	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	4.26	2.1	0.26226	0.728000	0.25682	5.863000	0.50453	0.654000	0.53741	0.007000	0.17678	1.000000	0.68203	0.002000	0.04165	0.0:0.1565:0.7022:0.1413	10.249	0.42536	779	0.47767	Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.005102	0.000000	0.005882	0.000000	0.000000	0.003049	0.000000	0.08333	1375.83	35	chr20	62310913	.	G	T	1375.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.63;DP=284;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.63;ReadPosRankSum=0.82;SOR=0.68	GT:AD:DP:GQ:PL	0/1:37,51:88:99:1386,0,812	5	0	1	0
chr20	63693266	63693266	C	T	exonic	RTEL1	.	nonsynonymous SNV	RTEL1:NM_001283010:exon29:c.C2306T:p.P769L,RTEL1:NM_001283009:exon30:c.C2975T:p.P992L,RTEL1:NM_016434:exon30:c.C2975T:p.P992L,RTEL1:NM_032957:exon30:c.C3047T:p.P1016L	Dyskeratosis congenita, autosomal dominant 4, Autosomal recessive, Autosomal dominant;Dyskeratosis congenita, autosomal recessive 5, Autosomal recessive, Autosomal dominant;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, Autosomal dominant	435	1059	27	1	0	29	0.0135072	.	.	.	430403	not_provided|RTEL1-related_disorder|Dyskeratosis_congenita,_autosomal_recessive_5|Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3|Dyskeratosis_congenita|not_specified	MedGen:C3661900|.|MONDO:MONDO:0014076,MedGen:C3554656,OMIM:615190|MONDO:MONDO:0014613,MedGen:C4225346,OMIM:616373,Orphanet:2032|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.168	0.139368554332	0.0005	0.00159744	0.0015	0.0012	0.0013	0	0.0005	0.0009	0.0011	0.0058	0.0013648	211	154602	rs143967591	0.0011	0.0011	0.0010	0.0012	0.0096	0.0011	0.0010	0.0075	0.0068	0.0006	0.0012	3.833e-05	0.0003	0.0006	0.0096	0.0008	0.0016	0.0058	0.0009	0.0009	0.0010	0.0009	0.0039	0.0008	0.0008	0.0026	0.0021	0.0011	0	0.0010	0.0003	0.0004	0.0006	0.0034	0.0007	0.0024	0.0039	0.467	0.08559	T	0.529	0.11335	T	0.0	0.02946	B	0.0	0.04355	B	0.047948	0.01979	N	2.248960	1	0.08975	N	-0.205	0.04094	N	-1.43	0.80730	T	-0.83	0.22727	N	0.116	0.15609	-0.8145	0.54275	T	0.210	0.56946	T	10	0.00494954	0.00106	T	0.139369	0.82185	D	0.168	0.42943	.	.	0.362933182269	0.35899	0.2539474739144245	0.25308	.	.	0.239184051752	0.02718	T	0.10823	0.42109	T	-0.465828	0.00903	T	-0.439156	0.28903	T	0.0011363816984353	0.00011	T	0.686731	0.29555	T	0.02644599	0.01702	0.022959659	0.00313	0.029458098	0.02445	0.0238321	0.00396	-4.261	0.31538	T	.	.	0.074	0.06341	B	.;.;.;.	.;.;.;.	0.401937	0.07734	4.412	0.81152595751285961	0.13545	0.02960	0.07796	N	AEFDGBCI	0.046712	0.07786	N	-1.0342140388468	0.07900	0.3686039	-0.98034880072449	0.10227	0.5137404	0.995874279844285	0.34380	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.592323	0.36904	0	.	.	4.82	2.6	0.30173	-0.461000	0.06789	-0.549000	0.08539	-0.989000	0.01856	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.4287:0.2354:0.3359	2.886	0.05314	.	.	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.010070	0.015152	0.016304	0.008772	0.050000	0.000000	0.003049	0.007634	0.08333	841.83	39	chr20	63693266	.	C	T	841.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.61;DP=247;ExcessHet=0;FS=8.296;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.31;ReadPosRankSum=1.68;SOR=0.153	GT:AD:DP:GQ:PL	0/1:24,31:55:99:852,0,585	5	0	1	0
chr21	7819594	7819594	G	A	exonic	KCNE1B	.	nonsynonymous SNV	KCNE1B:NM_001330065:exon3:c.C38T:p.T13M,KCNE1B:NM_001369869:exon3:c.C38T:p.T13M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175643011	0.0002	0.0002	0.0001	0.0002	0.0048	0.0001	0.0001	0.0031	0.0025	4.661e-05	0	0	0.0002	0	0.0048	0.0002	5.36e-05	3.566e-05	1.893e-05	4.432e-05	0	3.995e-05	0.0001	3.14e-06	1.18e-06	.	.	0	0	0.0001	0	0	0	0	0	0.0007	0	.	.	.	0.237	0.24621	T	.	.	.	.	.	.	0.263283	0.03723	N	1.520460	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.079	0.08786	-0.5777	0.65708	T	0.396	0.74844	T	10	0.06710556	0.09302	T	0.074962	0.72171	D	.	.	.	.	0.0806252709748	0.07271	0.23612235707339407	0.23527	.	.	0.249600023031	0.03725	T	0.004157	0.03571	T	-0.289157	0.09720	T	-0.296753	0.45066	T	0.00860703531440309	0.00105	T	0.512749	0.16428	T	0.014688223	0.00103	0.028269313	0.01048	0.014688223	0.00103	0.028269313	0.01048	-4.91	0.35847	T	.	.	0.064	0.02861	B	.;.;.;.	.;.;.;.	-0.208455	0.03048	0.470	0.73931888924860811	0.10508	0.01148	0.04154	N	AEFDBI	.	.	.	-1.83426464048498	0.00467	0.02007908	-1.91322505167736	0.00461	0.02040418	0.999868071151714	0.44398	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.82	-9.65	0.00450	-0.884000	0.04273	-0.628000	0.08139	-0.599000	0.04621	0.000000	0.06391	0.000000	0.08366	0.071000	0.16709	0.5941:0.1309:0.1386:0.1364	4.835	0.12821	.	.	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	1220.1	39	chr21	7819594	.	G	A	1220.1	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.332;DP=221;ExcessHet=0;FS=15.12;MLEAC=2;MLEAF=0.167;MQ=36.74;MQRankSum=1.71;QD=25.42;ReadPosRankSum=-0.616;SOR=0.9	GT:AD:DP:GQ:PL	1/1:4,44:48:17:1240,17,0	5	1	0	0
chr21	10596045	10596045	C	T	exonic	TPTE	.	nonsynonymous SNV	TPTE:NM_001290224:exon15:c.C820T:p.R274W,TPTE:NM_199260:exon18:c.C1120T:p.R374W,TPTE:NM_199259:exon19:c.C1180T:p.R394W,TPTE:NM_199261:exon20:c.C1234T:p.R412W	.	404	1117	1	0	0	1	0.000447427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs143510517	0.0001	0.0007	0.0001	8.673e-05	0.0034	9.414e-05	8.895e-05	0.0029	0.0027	0.0034	0.0002	0	0	1.872e-05	0.0003	1.349e-05	0.0002	8.124e-05	0.0037	0.0070	0.0040	0.0034	0.0126	0.0034	0.0033	0.0117	0.0113	0.0126	0	0.0022	0	0.0002	0	0	8.818e-05	0.0014	0.0004	.	.	.	0.007	0.76473	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.39760	.	.	.	.	.	.	.	0.015973508	0.00336	T	.	.	.	.	.	.	.	.	.	0.8976669884590193	0.89737	.	.	.	.	.	0.657511	0.89681	D	.	.	.	.	.	.	.	.	.	0.971903	0.90184	D	.	.	.	.	.	.	.	.	-11.634	0.83023	D	.	.	0.219	0.47784	B	.;.;.;.	.;.;.;.	2.432090	0.31291	18.70	.	.	.	.	.	.	0.060152	0.11412	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.241000	0.32346	1.930000	0.29765	-0.779000	0.03363	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	.	.	.	.	.	.;Tensin phosphatase, C2 domain|Tensin phosphatase, C2 domain|Tensin phosphatase, C2 domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	203.83	71	chr21	10596045	.	C	T	203.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.411;DP=570;ExcessHet=0;FS=2.401;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=-0.676;SOR=0.602	GT:AD:DP:GQ:PL	0/1:204,33:237:99:214,0,4995	5	0	1	0
chr21	13610565	13610565	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.G337A:p.G113S	.	444	172	461	445	0	1351	0.79705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00277741158105	.	.	.	.	.	.	.	.	.	.	0.033169	5128	154602	rs6517869	1.401e-05	6.993e-05	3.992e-06	2.407e-05	6.081e-05	8.13e-06	6.36e-06	1.007e-05	3.77e-06	0	6.081e-05	0	0	5.033e-05	0	8.892e-06	2.573e-05	3.286e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.153	0.24372	T	0.043	0.49942	D	1.0	0.90584	D	0.937	0.67262	D	.	.	.	.	1	0.08975	N	1.15	0.29295	L	1.66	0.27486	T	-1.24	0.31375	N	0.08	0.05542	-0.9968	0.30810	T	0.095	0.35818	T	8	0.068237185	0.09622	T	0.002777	0.05781	T	0.029	0.06676	0.202	0.11659	0.0934897674506	0.08844	0.04415967261073172	0.04359	.	.	0.431079089642	0.29356	T	0.012796	0.11182	T	-0.31698	0.07148	T	-0.693096	0.06212	T	0.036694748014754	0.03102	T	0.636336	0.25008	T	0.046982475	0.07955	0.08034204	0.18165	0.046982475	0.07954	0.08034204	0.18164	-7.591	0.58248	D	.	.	0.092	0.21163	B	.;.	.;.	1.490668	0.19177	14.13	0.9114633486319289	0.20400	0.00123	0.00769	N	AEFI	0.021764	0.01007	N	-0.750059816202474	0.14632	0.7304896	-1.05968458506513	0.08505	0.4185625	1.33632449358699E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.418	-0.732	0.10585	-1.777000	0.01877	.	.	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	11917.9	38	chr21	13610565	.	G	A	11917.9	.	AC=4;AF=0.333;AN=12;BaseQRankSum=3.59;DP=831;ExcessHet=0.1336;FS=1.126;MLEAC=4;MLEAF=0.333;MQ=54.23;MQRankSum=-8.187;QD=17.03;ReadPosRankSum=1.01;SOR=0.811	GT:AD:DP:GQ:PL	0/1:153,80:233:99:2005,0,3982	3	1	2	0
chr21	13610631	13610631	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A403G:p.I135V	.	439	188	453	442	0	1337	0.780502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00179256116657	.	.	.	.	.	.	.	.	.	.	0.175004	4555	26028	rs6517870	0.0002	0.0006	0.0002	0.0002	0.0010	0.0002	0.0002	0.0007	0.0006	0	0.0010	0	0	0.0019	0	0.0001	7.755e-05	3.326e-05	0.0002	0.0008	0.0001	0.0003	0.0011	0.0001	0.0001	0.0006	0.0005	0	0	0.0011	0	0	0.0004	0	8.695e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	0.955	0.23872	L	0.69	0.51714	T	0.21	0.04776	N	0.013	0.00142	-1.0463	0.15447	T	0.001	0.00408	T	8	0.01186794	0.00257	T	0.001793	0.03063	T	0.027	0.05988	.	.	0.043077524339	0.03247	0.057245171207421994	0.05665	.	.	0.60823392868	0.54066	T	0.003659	0.03070	T	-0.325257	0.06477	T	-0.704986	0.05557	T	0.0231726184936854	0.01044	T	0.405359	0.11777	T	0.018582096	0.00380	0.026746769	0.00781	0.018582096	0.00379	0.026746769	0.00780	-2.614	0.06610	T	.	.	0.071	0.06571	B	.;.	.;.	-1.090417	0.00652	0.018	0.18791234627756773	0.00606	0.00044	0.00357	N	AEFI	0.015589	0.00305	N	-2.40962434727351	0.00026	0.001112248	-2.38906535767928	0.00042	0.001829696	4.90101459551143E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.29	-2.58	0.05866	-2.318000	0.01202	.	.	-2.102000	0.00394	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.0:0.4308:0.0	5.628	0.16773	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012405	0.000000	0.013369	0.016129	0.000000	0.046512	0.000000	0.010417	0.3333	8563.94	38	chr21	13610631	.	A	G	8563.94	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.751;DP=725;ExcessHet=0.1336;FS=1.118;MLEAC=4;MLEAF=0.333;MQ=50.06;MQRankSum=-12.91;QD=14.42;ReadPosRankSum=1.09;SOR=0.811	GT:AD:DP:GQ:PL	0/1:142,64:206:99:1341,0,3818	3	1	2	0
chr21	13641414	13641414	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon11:c.A1603G:p.M535V	.	518	268	324	412	0	1148	0.68171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.000925184405604	.	.	.	.	.	.	.	.	.	.	0.0332984	5148	154602	rs9980783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.265	0.22694	T	0.053	0.22573	B	0.007	0.12992	B	.	.	.	.	0.999995	0.08975	N	1.295	0.32453	L	2.51	0.14284	T	-0.92	0.24676	N	0.112	0.09914	-0.9460	0.41648	T	0.021	0.08870	T	9	0.058576673	0.06907	T	9.25E-4	0.00889	T	0.056	0.15993	0.204	0.11936	0.0675242888579	0.06100	0.017058676146940573	0.01660	.	.	0.862693071365	0.91508	D	0.009423	0.08576	T	-0.65755	0.00065	T	-0.573482	0.15131	T	0.0619566306163236	0.07473	T	0.571043	0.20346	T	0.060948554	0.12567	0.09257506	0.21825	0.060948554	0.12567	0.09257506	0.21824	-3.238	0.12951	T	.	.	0.097	0.15788	B	.	.	0.712273	0.10810	7.493	0.4975947206577841	0.04266	0.04450	0.10053	N	AEFI	0.042990	0.06739	N	-0.991022779855283	0.08795	0.4137322	-1.03117548479235	0.09104	0.4510756	2.3450725238948E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.1	2.1	0.26226	1.579000	0.36145	.	.	0.351000	0.19951	0.307000	0.25387	0.000000	0.08366	0.054000	0.15518	0.8091:0.0:0.1909:0.0	3.884	0.08596	.	.	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	4425.94	38	chr21	13641414	.	A	G	4425.94	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.306;DP=378;ExcessHet=0.1336;FS=4.391;MLEAC=4;MLEAF=0.333;MQ=57.89;MQRankSum=-0.838;QD=16.7;ReadPosRankSum=0.697;SOR=0.485	GT:AD:DP:GQ:PL	0/1:42,36:78:99:869,0,1046	3	1	2	0
chr21	21286341	21286341	G	T	exonic	NCAM2	.	nonsynonymous SNV	NCAM2:NM_001352591:exon4:c.G410T:p.R137L,NCAM2:NM_001352593:exon4:c.G410T:p.R137L,NCAM2:NM_001352594:exon4:c.G410T:p.R137L,NCAM2:NM_001352596:exon4:c.G410T:p.R137L,NCAM2:NM_004540:exon4:c.G410T:p.R137L,NCAM2:NM_001352592:exon5:c.G485T:p.R162L,NCAM2:NM_001352597:exon5:c.G485T:p.R162L	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0263868089271	.	.	.	.	.	.	.	.	.	.	.	.	.	rs188667430	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.08	0.43159	T	0.003	0.11197	B	0.005	0.11217	B	0.000334	0.45700	D	0.225070	0.938739	0.81001	D	0.835	0.21042	L	-0.3	0.67874	T	-2.95	0.61580	D	0.337	0.37820	-0.7394	0.58483	T	0.169	0.50955	T	10	0.29810888	0.47369	T	0.026387	0.49300	D	0.179	0.44899	0.657	0.79482	0.357212565759	0.35331	0.5291363140443647	0.52837	0.0860089005094	0.09718	0.406890690327	0.26026	T	0.36491	0.73041	T	-0.0847041	0.38946	T	-0.359448	0.38116	T	0.971363186836243	0.69290	D	0.878412	0.59357	D	0.4304281	0.62780	0.32769522	0.58666	0.4304281	0.62781	0.32769522	0.58665	-6.676	0.51629	T	.	.	0.249	0.49431	B	.;.	.;.	3.660423	0.51996	23.2	0.99414368558202293	0.63453	0.89290	0.49665	D	AEFBI	0.457871	0.50913	N	-0.103462923624734	0.37242	2.16389	0.0796313609377966	0.43527	2.652513	0.0380441021979097	0.14328	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.28	4.2	0.48814	1.921000	0.39665	4.390000	0.43210	-0.109000	0.15193	1.000000	0.71638	0.999000	0.35428	0.965000	0.52897	0.0929:0.0:0.7503:0.1568	8.501	0.32319	999	0.00169	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	654.83	33	chr21	21286341	.	G	T	654.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.299;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-0.03;SOR=0.826	GT:AD:DP:GQ:PL	0/1:30,30:60:99:665,0,669	5	0	1	0
chr21	39196451	39196451	T	A	exonic	BRWD1	.	nonsynonymous SNV	BRWD1:NM_033656:exon41:c.A6618T:p.R2206S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.023375979072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.172	0.30241	T	0.902	0.49745	P	0.436	0.45556	B	.	.	.	.	1	0.81001	D	.	.	.	0.48	0.55945	T	-0.89	0.24026	N	0.324	0.36464	-1.0605	0.11632	T	0.099	0.36957	T	8	0.20940176	0.37301	T	0.023376	0.46338	T	0.058	0.16647	0.252	0.19067	0.729508143917	0.72711	.	.	.	.	.	.	.	.	.	.	-0.0776414	0.40099	T	-0.349303	0.39285	T	0.252537629253373	0.22986	T	0.610139	0.23115	T	.	.	.	.	.	.	.	.	-4.545	0.31473	T	.	.	0.664	0.71501	P	.	.	3.034778	0.40663	21.2	0.99629256171183112	0.75959	0.71702	0.35127	D	AEFGBI	0.166032	0.29258	N	-0.0928227624751632	0.37706	2.197624	-0.0787539625754211	0.36269	2.108621	0.999973329214493	0.50053	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.662433	0.64102	0	.	.	5.53	3.08	0.34576	0.455000	0.21555	-0.138000	0.11547	0.665000	0.62972	0.821000	0.30003	0.750000	0.26544	0.995000	0.73285	0.0:0.282:0.0:0.718	8.248	0.30860	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1192.83	34	chr21	39196451	.	T	A	1192.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.311;DP=249;ExcessHet=0;FS=1.891;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.49;ReadPosRankSum=-1.725;SOR=0.641	GT:AD:DP:GQ:PL	0/1:33,44:77:99:1203,0,845	5	0	1	0
chr21	44391009	44391009	A	G	exonic	TRPM2	.	nonsynonymous SNV	TRPM2:NM_001320350:exon10:c.A1424G:p.D475G,TRPM2:NM_001320351:exon10:c.A1424G:p.D475G,TRPM2:NM_003307:exon10:c.A1424G:p.D475G	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.0153836071151	.	.	4.944e-05	0	0	0	0	7.495e-05	0	6.057e-05	4.53e-05	7	154602	rs769381277	1.642e-05	1.642e-05	8.168e-06	2.475e-05	0.0007	1.111e-05	9.34e-06	0.0002	0.0001	0	0	0	0	0	0.0007	6.295e-06	4.968e-05	0.0001	6.572e-06	6.568e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.384	0.11050	T	0.784	0.04703	T	0.917	0.50750	P	0.445	0.45921	B	0.000001	0.62929	D	0.056585	0.999999	0.58761	D	0.495	0.13372	N	2.03	0.20959	T	-0.86	0.25770	N	0.424	0.48042	-1.0985	0.04277	T	0.043	0.18285	T	10	0.14027092	0.26664	T	0.015384	0.36078	T	0.166	0.42578	.	.	0.32053947749	0.31673	0.4203184122063365	0.41947	0.192826833889	0.21615	0.4336348176	0.29706	T	0.208543	0.56850	T	-0.139401	0.29985	T	-0.201348	0.54519	T	0.26067379117012	0.23344	T	0.790821	0.44558	T	0.43711776	0.63216	0.20203975	0.44213	0.43711776	0.63216	0.20203975	0.44212	-9.289	0.70223	D	.	.	0.149	0.33039	B	.;.;.;.	.;.;.;.	5.511209	0.91687	32	0.9871749037647769	0.45157	0.95198	0.63800	D	AEFBI	0.603599	0.59502	D	0.080864187102523	0.45570	2.81139	0.12427241160509	0.45793	2.836263	0.999996087827899	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.6	4.6	0.56512	3.017000	0.49302	5.104000	0.47459	0.740000	0.86194	0.991000	0.37257	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	14.302	0.65913	884	0.28482	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	369.83	34	chr21	44391009	.	A	G	369.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.723;DP=240;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.78;ReadPosRankSum=0.316;SOR=0.702	GT:AD:DP:GQ:PL	0/1:45,19:64:99:380,0,1129	5	0	1	0
chr21	44637708	44637723	TGTCTGCTGTGTGCCC	0	exonic	KRTAP10-10	.	.	.	.	451	251	178	15	627	835	0.292958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	2818.02	35	chr21	44637708	.	TGTCTGCTGTGTGCCC	*	2818.02	.	AC=5;AF=0.417;AN=12;DP=1123;ExcessHet=0.095;FS=2.852;MLEAC=5;MLEAF=0.417;MQ=59.79;QD=3.11;SOR=0.494	GT:AD:DP:GQ:PL	1/1:1,169:170:99:7422,498,0	2	1	3	0
chr21	44646765	44646765	G	A	exonic	KRTAP10-11	.	nonsynonymous SNV	KRTAP10-11:NM_198692:exon1:c.G307A:p.V103I	.	407	1109	6	0	0	6	0.00269784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00247816193051	0.0003	0.000199681	0.0005	0	0.0003	0	0	0.0008	0.0011	0.0004	0.0004657	72	154602	rs200166608	0.0005	0.0005	0.0005	0.0005	0.0156	0.0005	0.0005	0.0130	0.0120	0.0006	0.0004	0.0029	0	1.872e-05	0.0156	0.0004	0.0008	0.0003	0.0004	0.0004	0.0004	0.0004	0.0006	0.0003	0.0003	0.0003	0.0003	0.0001	0	0.0006	0.0046	0	0	0.0034	0.0004	0.0014	0.0002	0.079	0.33753	T	0.2	0.27591	T	0.003	0.11197	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	1.845	0.48678	L	5.94	0.00616	T	-0.56	0.17003	N	0.048	0.01999	-0.9564	0.39843	T	0.003	0.00994	T	9	0.0078935325	0.00179	T	0.002478	0.04925	T	0.018	0.03083	.	.	0.0138822411134	0.00435	0.031051506891314837	0.03054	0.013093534697	0.01258	0.200884759426	0.00483	T	0.003618	0.03030	T	-0.649655	0.00073	T	-0.804519	0.01792	T	0.0143806407004745	0.00289	T	0.0473953	0.00339	T	0.03253127	0.03296	0.035217997	0.02732	0.03253127	0.03296	0.035217997	0.02732	-7.347	0.56529	T	.	.	0.083	0.09143	B	.	.	-1.216269	0.00515	0.012	0.80308440679460669	0.13142	0.04212	0.09725	N	AEFBCI	0.026829	0.02083	N	-1.26862474623414	0.04059	0.182501	-1.37175714799281	0.03556	0.1661108	0.931308413205367	0.27042	0.615755	0.39536	0	0.588015	0.36545	0	0.618376	0.41669	0	0.564101	0.26826	0	.	.	3.37	-1.32	0.08721	-2.929000	0.00755	-20.000000	0.00162	-2.273000	0.00330	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.208:0.4345:0.3575:0.0	6.255	0.20075	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011628	0.005051	0.014946	0.028689	0.000000	0.025862	0.003049	0.000000	0.08333	3366.83	34	chr21	44646765	.	G	A	3366.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.674;DP=590;ExcessHet=0;FS=5.147;MLEAC=1;MLEAF=0.083;MQ=59.64;MQRankSum=-0.429;QD=13.8;ReadPosRankSum=1.4;SOR=0.608	GT:AD:DP:GQ:PL	0/1:111,133:244:99:3377,0,2772	5	0	1	0
chr21	44697215	44697215	C	G	exonic	KRTAP10-12	.	nonsynonymous SNV	KRTAP10-12:NM_198699:exon1:c.C14G:p.S5C	.	.	.	.	.	.	.	.	.	.	.	2250856	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.179	0.0110977867845	0.0002	.	6.675e-05	0.0006	8.645e-05	0	0	0	0	6.304e-05	6.47e-05	10	154602	rs369832647	2.121e-05	2.121e-05	2.723e-05	1.513e-05	0.0007	1.52e-05	1.324e-05	0.0004	0.0004	0.0007	2.237e-05	0	0	0	0	0	0.0001	1.16e-05	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	9.705e-05	0.0004	0.0003	0.0006	0	6.545e-05	0	0	0	0	0	0	0	0.001	0.78490	D	0.113	0.36901	T	0.999	0.77913	D	0.936	0.67150	D	.	.	.	.	1	0.81001	D	3.11	0.87757	M	5.67	0.00768	T	-4.78	0.80510	D	0.552	0.57775	-0.9177	0.45864	T	0.009	0.03448	T	9	0.4344787	0.57704	T	0.011098	0.28373	T	0.179	0.44899	.	.	0.0611884634855	0.05136	0.09895797887264418	0.09826	0.870668965901	0.69386	0.395628660917	0.24459	T	0.117291	0.43726	T	-0.321342	0.06788	T	-0.327098	0.41791	T	0.629143595695496	0.37582	D	0.872913	0.58047	D	0.28695932	0.51709	0.27697983	0.53647	0.28695932	0.51709	0.27697983	0.53646	-7.398	0.56890	T	.	.	0.264	0.49893	B	.	.	2.882072	0.38144	20.7	0.98861736139308976	0.47476	0.77163	0.37909	D	AEFDBI	0.113360	0.22370	N	0.196622186922074	0.51037	3.288248	0.0940648721396654	0.44250	2.71036	0.99999999427909	0.74766	0.615755	0.39536	0	0.563428	0.19063	0	0.618376	0.41669	0	0.530356	0.10902	0	.	.	3.65	3.65	0.40985	2.480000	0.44865	1.664000	0.27916	0.464000	0.21668	0.980000	0.35271	1.000000	0.68203	0.071000	0.16709	0.0:1.0:0.0:0.0	13.156	0.58936	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2322.83	40	chr21	44697215	.	C	G	2322.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.898;DP=422;ExcessHet=0;FS=0.533;MLEAC=1;MLEAF=0.083;MQ=58.65;MQRankSum=0.254;QD=12.29;ReadPosRankSum=-0.955;SOR=0.743	GT:AD:DP:GQ:PL	0/1:102,87:189:99:2333,0,2679	5	0	1	0
chr21	44787954	44787954	C	T	exonic	UBE2G2	.	nonsynonymous SNV	UBE2G2:NM_003343:exon3:c.G91A:p.E31K,UBE2G2:NM_182688:exon4:c.G7A:p.E3K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.404	0.0358219679397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.027	0.55341	D	0.973	0.57599	D	0.857	0.61067	P	0.000001	0.84330	D	0.092911	1	0.81001	D	2.78	0.81115	M	1.17	0.37910	T	-3.5	0.68178	D	0.886	0.88466	-0.6136	0.64254	T	0.228	0.59346	T	10	0.8063428	0.79969	D	0.035822	0.56599	D	0.404	0.71714	0.565	0.68633	0.754098630795	0.75187	0.8810322811501006	0.88071	1.71623382196	0.90501	0.848309695721	0.89359	D	0.20998	0.57035	T	0.275644	0.80940	D	0.158167	0.80694	D	0.988657176494598	0.78959	D	0.992201	0.97531	D	0.8746822	0.89235	0.8496859	0.91484	0.8746822	0.89236	0.8496859	0.91484	-10.558	0.77180	D	.	.	0.610	0.69280	P	.;.	.;.	4.918406	0.80991	27.4	0.99900939013768519	0.97275	0.94946	0.62882	D	AEFDBI	0.566343	0.57237	D	0.778650246571395	0.84753	8.376741	0.752805729032783	0.86364	8.866282	0.999999999792068	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.52	5.52	0.82153	5.215000	0.65074	7.596000	0.61403	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	16.391	0.83373	976	0.04745	Ubiquitin-conjugating enzyme E2|Ubiquitin-conjugating enzyme E2|Ubiquitin-conjugating enzyme E2;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	108.83	34	chr21	44787954	.	C	T	108.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.95;DP=339;ExcessHet=0;FS=91.121;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.21;ReadPosRankSum=1.54;SOR=5.992	GT:AD:DP:GQ:PL	0/1:73,17:92:99:119,0,2632	5	0	1	0
chr21	45267554	45267554	G	A	exonic	POFUT2	.	nonsynonymous SNV	POFUT2:NM_015227:exon8:c.C1172T:p.S391L	.	429	1062	31	0	0	31	0.0143852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	0.0099	0.0105831	0.0095	0.0115	0.0063	0.0006	0.0015	0.0095	0.0111	0.0185	0.0092237	1426	154602	rs115237543	0.0088	0.0088	0.0084	0.0092	0.0182	0.0087	0.0086	0.0174	0.0171	0.0104	0.0067	0.0080	0.0008	0.0022	0.0114	0.0087	0.0103	0.0182	0.0088	0.0088	0.0092	0.0084	0.0199	0.0084	0.0082	0.0167	0.0155	0.0105	0.0011	0.0062	0.0066	0.0019	0.0026	0.0272	0.0090	0.0123	0.0199	0.494	0.07895	T	0.031	0.53788	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	2.04	0.00388	N	0.173	0.18512	-1.0652	0.10502	T	0.050	0.21456	T	7	0.0031752586	0.00053	T	.	.	.	0.020	0.03691	.	.	0.0920862733494	0.08535	.	.	.	.	.	.	.	.	.	.	-0.72212	0.00027	T	-0.795116	0.02027	T	2.68504318228224e-05	0.00000	T	0.374863	0.08927	T	.	.	.	.	.	.	.	.	-3.148	0.11855	T	.	.	0.099	0.16756	B	.	.	-0.274959	0.02728	0.361	0.78622477381966449	0.12381	0.01346	0.04623	N	AEFDGBI	0.037692	0.05221	N	-1.54895673051367	0.01541	0.06730489	-1.70822552240981	0.01102	0.04948687	0.999979400801405	0.50053	0.646311	0.45356	0	0.653731	0.59785	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	1.42	-2.83	0.05425	-0.477000	0.06663	-0.957000	0.06793	-2.791000	0.00187	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1714:0.5814:0.2472:0.0	5.588	0.16567	929	0.16858	.	.	.	.	.	rs115237543	Likely benign	0	0	0	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	0.024169	0.015152	0.020380	0.020468	0.000000	0.043103	0.036585	0.018939	0.08333	2641.83	35	chr21	45267554	.	G	A	2641.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.211;DP=399;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-1.552;SOR=0.688	GT:AD:DP:GQ:PL	0/1:106,114:220:99:2652,0,2452	5	0	1	0
chr22	15528177	15528177	C	T	exonic	OR11H1	.	stopgain	OR11H1:NM_001005239:exon1:c.C19T:p.Q7X	.	583	912	27	0	0	27	0.0145867	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00645928117026	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs780256539	0.0007	0.0008	0.0005	0.0009	0.0069	0.0007	0.0007	0.0064	0.0063	0	0.0005	0.0009	0	7.51e-05	0.0063	0.0003	0.0009	0.0069	0.0005	0.0006	0.0003	0.0006	0.0058	0.0004	0.0003	0.0042	0.0036	4.839e-05	0	0.0006	0.0009	0	0	0.0034	0.0004	0.0010	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00181	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187006	0.72688	D	0.0308443	0.72333	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411623	0.07823	4.519	0.9869240347668039	0.44780	0.00479	0.02286	N	AEFI	0.014797	0.00251	N	-0.215373037917847	0.32502	1.833708	-0.68381680427237	0.17365	0.9230271	1.11926246149775E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-0.816000	0.04583	.	.	0.200000	0.17917	0.000000	0.06391	0.099000	0.22647	0.036000	0.13842	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	262.83	36	chr22	15528177	.	C	T	262.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.897;DP=289;ExcessHet=0;FS=9.053;MLEAC=1;MLEAF=0.083;MQ=36.13;MQRankSum=0.179;QD=2.41;ReadPosRankSum=0.833;SOR=0.073	GT:AD:DP:GQ:PL	0/1:91,18:109:99:273,0,3013	5	0	1	0
chr22	15528351	15528351	T	C	exonic	OR11H1	.	nonsynonymous SNV	OR11H1:NM_001005239:exon1:c.T193C:p.W65R	.	537	975	10	0	0	10	0.00510204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0297161768361	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149999478	0.0009	0.0020	0.0010	0.0009	0.0078	0.0009	0.0009	0.0070	0.0067	0.0078	0.0019	0.0026	0	0.0002	0.0046	0.0007	0.0020	0.0002	0.0033	0.0053	0.0034	0.0031	0.0091	0.0030	0.0029	0.0083	0.0080	0.0091	0	0.0025	0.0014	0	0.0005	0.0103	0.0010	0.0014	0	0.568	0.06223	T	0.373	0.16328	T	.	.	.	.	.	.	0.741201	0.06429	N	1.171190	.	.	.	.	.	.	3.8	0.03781	T	0.05	0.06369	N	0.086	0.06322	-0.9305	0.44066	T	0.005	0.01725	T	9	0.0111835	0.00246	T	0.003987	0.09462	T	.	.	0.376	0.38994	0.123314135267	0.11883	0.17031545831944409	0.16951	.	.	0.285326629877	0.08246	T	0.00142	0.00883	T	-0.344233	0.05100	T	-0.732244	0.04226	T	0.0419040925484779	0.04037	T	0.0630937	0.00459	T	.	.	.	.	.	.	.	.	-3.685	0.19097	T	.	.	0.135	0.31125	B	.;.	.;.	0.876995	0.12500	9.031	0.33756861390606369	0.02028	0.00246	0.01361	N	AEFI	0.018295	0.00544	N	-1.51919454913134	0.01723	0.0754404	-1.54558912379224	0.02006	0.09167587	1.17806289158194E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.585	0.585	0.16611	-1.996000	0.01560	.	.	0.374000	0.20344	0.000000	0.06391	0.000000	0.08366	0.139000	0.19909	0.0:0.3477:0.0:0.6523	2.750	0.04954	.	.	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	516.83	87	chr22	15528351	.	T	C	516.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.29;DP=741;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=38.77;MQRankSum=-2.412;QD=1.39;ReadPosRankSum=-0.565;SOR=0.709	GT:AD:DP:GQ:PL	0/1:313,58:371:99:527,0,7748	5	0	1	0
chr22	15528543	15528543	C	T	exonic	OR11H1	.	nonsynonymous SNV	OR11H1:NM_001005239:exon1:c.C385T:p.L129F	.	577	937	8	0	0	8	0.0042508	.	.	.	3366907	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.00749487106293	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1290260858	0.0006	0.0011	0.0006	0.0006	0.0052	0.0006	0.0006	0.0043	0.0040	0.0052	0.0009	0.0011	0	0.0001	0.0025	0.0006	0.0009	0.0001	0.0019	0.0041	0.0020	0.0018	0.0050	0.0017	0.0017	0.0045	0.0042	0.0050	0	0.0019	0.0006	0	9.463e-05	0.0035	0.0007	0.0010	0.0002	1.0	0.00964	T	0.995	0.02336	T	.	.	.	.	.	.	0.482977	0.12144	N	0.663894	.	.	.	.	.	.	2.6	0.13204	T	4.14	0.00049	N	0.181	0.19593	-0.9434	0.42073	T	0.021	0.08824	T	9	0.009864539	0.00221	T	0.006534	0.17215	T	.	.	0.418	0.45873	0.484294873522	0.48060	0.0468725801710379	0.04630	.	.	0.278370857239	0.07266	T	0.00119	0.00692	T	-0.289407	0.09696	T	-0.653489	0.08711	T	0.0397162234268787	0.03638	T	0.641436	0.26183	T	.	.	.	.	.	.	.	.	-6.318	0.48864	T	.	.	0.087	0.11461	B	.;.	.;.	-0.210858	0.03035	0.466	0.063103759518214994	0.00022	0.00321	0.01686	N	AEFI	0.022082	0.01060	N	-1.751666324304	0.00674	0.02909869	-1.81954680037607	0.00699	0.03111026	1.27382114649005E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.585	-1.17	0.09152	-1.039000	0.03660	.	.	0.339000	0.19733	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.3123:0.6877:0.0:0.0	5.701	0.17152	.	.	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	325.83	87	chr22	15528543	.	C	T	325.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.435;DP=338;ExcessHet=0;FS=5.191;MLEAC=1;MLEAF=0.083;MQ=26.49;MQRankSum=-0.822;QD=3.75;ReadPosRankSum=-0.368;SOR=1.489	GT:AD:DP:GQ:PL	0/1:67,20:87:99:336,0,1786	5	0	1	0
chr22	18925165	18925165	A	G	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon4:c.T229C:p.W77R,LOC102724788:NM_001368249:exon4:c.T553C:p.W185R,LOC102724788:NM_001368250:exon4:c.T229C:p.W77R,PRODH:NM_016335:exon4:c.T553C:p.W185R	.	0	170	630	722	0	2074	0.859155	.	.	.	1159081	Proline_dehydrogenase_deficiency|not_provided	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.076	.	0.6739	0.78095	0.6417	0.8658	0.6056	0.9683	0.4835	0.5769	0.6024	0.6814	0.02359	614	26028	rs386819653	0.0003	0.0047	0.0004	0.0002	0.0023	0.0002	0.0001	0.0006	0.0003	0	0.0023	0	0	0	0	0.0004	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.503	0.07670	T	0.534	0.09965	T	0.0	0.02946	B	0.0	0.01387	B	0.094139	0.20188	N	0.520350	0.999439	0.21199	P	.	.	.	-0.92	0.75108	T	3.71	0.00075	N	0.033	0.01068	-0.9908	0.32398	T	0.000	0.00011	T	8	1.1503014e-06	0.00003	T	.	.	.	0.124	0.34239	0.323	0.30387	.	.	0.36059814543275515	0.35973	0.483945717353	0.47326	0.248760938644	0.03638	T	0.002583	0.06018	T	-0.601222	0.00143	T	-0.49257	0.23121	T	0.00184463573786778	0.00019	T	0.00685721	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00015	B	.;.;.;.;.	.;.;.;.;.	0.485323	0.08545	5.311	0.22177376406136032	0.00880	0.05952	0.11910	N	AEFDBI	0.024100	0.01439	N	-0.980425259653166	0.09021	0.425321	-0.911628502467974	0.11819	0.6044718	0.999452624102034	0.39788	0.722319	0.85440	0	0.627178	0.54094	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	2.88	0.32617	3.825000	0.55430	1.457000	0.26651	-2.966000	0.00148	0.770000	0.29357	0.835000	0.27248	0.022000	0.11911	0.1618:0.0:0.6925:0.1458	6.438	0.21037	929	0.16858	.;.;.;.;.	.	.	.	.	rs4819756	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.686304	0.752525	0.689373	0.602339	0.700000	0.612069	0.704268	0.655303	0.5	9200.51	133	chr22	18925165	.	A	G	9200.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.433;DP=571;ExcessHet=0.095;FS=0;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.21;ReadPosRankSum=0.332;SOR=0.723	GT:AD:DP:GQ:PL	1/1:0,124:124:99:3662,372,0	2	2	2	0
chr22	21016091	21016091	A	T	exonic	P2RX6	.	nonsynonymous SNV	P2RX6:NM_001159554:exon2:c.A236T:p.Q79L,P2RX6:NM_005446:exon2:c.A314T:p.Q105L	.	557	963	1	1	0	3	0.00155521	0.9994	0.964	.	3371249	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.215	0.0126783521306	0.0002	.	0.0003	0.0004	0	0	0	0.0005	0	0	5.82e-05	9	154602	rs146908572	0.0001	0.0001	0.0001	0.0001	0.0002	9.543e-05	8.988e-05	0.0001	0.0001	6.239e-05	5.373e-05	0	0	2e-05	0.0002	0.0001	0.0001	1.252e-05	0.0001	0.0001	0.0001	0.0001	0.0002	7.086e-05	5.743e-05	0.0001	9.899e-05	4.811e-05	0	6.531e-05	0	0	0	0	0.0002	0	0	0.032	0.47320	D	0.024	0.83351	D	0.068	0.23728	B	0.062	0.26930	B	0.000306	0.45977	D	0.000000	0.99938	0.48019	D	3.04	0.86592	M	3.53	0.04852	T	-5.76	0.90332	D	0.577	0.59901	-1.1757	0.00437	T	0.052	0.22076	T	10	0.37505004	0.53767	T	0.012678	0.31464	T	0.215	0.50805	.	.	0.185906805712	0.18197	0.4584617952807381	0.45764	0.127003426639	0.14312	0.428711742163	0.29033	T	0.197445	0.55413	T	-0.176329	0.24282	T	-0.198912	0.54749	T	0.752699196338654	0.43436	D	0.914909	0.75689	D	0.2890196	0.51901	0.2748136	0.53413	0.2890196	0.51901	0.2748136	0.53412	-9.453	0.80522	D	.	.	0.327	0.55039	B	.;.	.;.	4.302652	0.65709	24.9	0.98877276745530152	0.47754	0.98277	0.81186	D	AEFDBHI	0.818065	0.73940	D	0.137084207365697	0.48200	3.035408	0.141216667311675	0.46680	2.909968	0.999999999982275	0.74766	0.497415	0.19182	0	0.563428	0.19063	0	0.59043	0.30614	0	0.613276	0.41899	0	.	.	4.24	4.24	0.49486	7.473000	0.80010	10.824000	0.83855	0.726000	0.85437	1.000000	0.71638	1.000000	0.68203	0.013000	0.09966	1.0:0.0:0.0:0.0	10.018	0.41197	754	0.51307	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	476.83	34	chr22	21016091	.	A	T	476.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.363;DP=210;ExcessHet=0;FS=3.004;MLEAC=1;MLEAF=0.083;MQ=59.04;MQRankSum=-2.092;QD=13.25;ReadPosRankSum=1.39;SOR=0.307	GT:AD:DP:GQ:PL	0/1:16,20:36:99:487,0,430	5	0	1	0
chr22	21049100	21049100	G	T	exonic	LRRC74B	.	nonsynonymous SNV	LRRC74B:NM_001291006:exon4:c.G565T:p.A189S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00166065658431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.748	0.04842	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.75	0.50192	T	-0.05	0.07736	N	0.089	0.06720	-1.1057	0.03467	T	0.082	0.32411	T	6	0.08442953	0.14149	T	0.001661	0.02728	T	0.009	0.00846	0.308	0.27967	0.218845423259	0.21516	0.059355196649959	0.05875	.	.	.	.	.	0.006021	0.05459	T	-0.292776	0.09360	T	-0.658329	0.08379	T	0.0420300447382945	0.04061	T	0.564244	0.19889	T	0.019119265	0.00437	0.07143618	0.15297	0.019119265	0.00437	0.07143618	0.15297	-3.445	0.15670	T	.	.	0.080	0.07889	B	.	.	1.123150	0.15092	11.58	0.86001157881678869	0.16249	0.26523	0.23017	N	AEFDGBI	0.120159	0.23420	N	-0.274869305359018	0.30122	1.676668	-0.291023520066766	0.28392	1.582801	0.99917267085939	0.38651	0.516011	0.20929	0	0.547309	0.14657	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	3.93	2.87	0.32523	0.848000	0.27362	1.448000	0.26583	0.342000	0.19800	0.581000	0.27594	0.864000	0.27519	0.389000	0.26536	0.0:0.2312:0.7688:0.0	9.405	0.37620	538	0.73119	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	471.83	36	chr22	21049100	.	G	T	471.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.158;DP=315;ExcessHet=0;FS=6.741;MLEAC=1;MLEAF=0.083;MQ=39.17;MQRankSum=-1.496;QD=3.81;ReadPosRankSum=-2.002;SOR=1.58	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,19:124:99:0|1:21049100_G_T:482,0,4328:21049100	5	0	1	0
chr22	21049101	21049101	C	T	exonic	LRRC74B	.	nonsynonymous SNV	LRRC74B:NM_001291006:exon4:c.C566T:p.A189V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00241906104557	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.773e-06	1.59e-06	0	3.286e-06	3.157e-06	0	0	.	.	0	0	0	0	0	0	3.157e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.498	0.07797	T	0.597	0.08025	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.65	0.52642	T	-0.88	0.23808	N	0.071	0.04426	-0.9716	0.36862	T	0.077	0.30951	T	6	0.06505579	0.08720	T	0.002419	0.04757	T	0.021	0.04004	0.328	0.31196	0.0762999501168	0.06990	0.08180833127203899	0.08115	.	.	.	.	.	0.034752	0.23446	T	-0.310559	0.07700	T	-0.683873	0.06750	T	0.033943120265204	0.02628	T	0.549445	0.18903	T	0.013693727	0.00067	0.04660608	0.06534	0.013693727	0.00067	0.04660608	0.06533	-3.845	0.21478	T	.	.	0.074	0.05060	B	.	.	0.168166	0.05577	2.032	0.87727663409617529	0.17437	0.02085	0.06197	N	AEFDGBI	0.032269	0.03610	N	-0.894191899871742	0.10980	0.5274651	-1.0704793994045	0.08285	0.4067342	0.999943463101992	0.47345	0.516011	0.20929	0	0.547309	0.14657	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	3.93	-6.47	0.01731	-0.240000	0.08970	-1.040000	0.06518	-0.653000	0.04380	0.008000	0.17931	0.000000	0.08366	0.395000	0.26670	0.1373:0.1527:0.2738:0.4362	1.507	0.02338	538	0.73119	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	471.83	36	chr22	21049101	.	C	T	471.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.305;DP=316;ExcessHet=0;FS=6.741;MLEAC=1;MLEAF=0.083;MQ=39.09;MQRankSum=-1.496;QD=3.81;ReadPosRankSum=-1.981;SOR=1.58	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,19:124:99:0|1:21049100_G_T:482,0,4328:21049100	5	0	1	0
chr22	21216084	21216084	C	T	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon10:c.G589A:p.G197S	.	708	711	85	18	0	121	0.0784187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025511	664	26028	rs55710139	7.199e-06	1.59e-05	2.859e-06	1.16e-05	2.647e-05	3.64e-06	2.65e-06	2.72e-06	1.75e-06	0	0	0	2.647e-05	0	0	6.546e-06	1.74e-05	1.241e-05	5.682e-05	7.425e-05	5.532e-05	5.84e-05	9.519e-05	2.739e-05	2.062e-05	4.112e-05	2.739e-05	2.491e-05	0	8e-05	0	0	0	0	9.519e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	476.86	15	chr22	21216084	.	C	T	476.86	.	AC=5;AF=0.5;AN=10;BaseQRankSum=2.43;DP=91;ExcessHet=6.1542;FS=2.197;MLEAC=5;MLEAF=0.5;MQ=46.55;MQRankSum=-2.17;QD=6.36;ReadPosRankSum=-0.144;SOR=1.08	GT:AD:DP:GQ:PL	0/1:11,4:15:72:72,0,264	0	0	5	1
chr22	21445988	21445988	G	A	exonic	HIC2	.	nonsynonymous SNV	HIC2:NM_015094:exon3:c.G1093A:p.E365K	.	408	1051	60	3	0	66	0.0304428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	.	.	0.00199681	0.0032	0	0.0004	0	0	0.0020	0.0023	0.0146	0.0020569	318	154602	rs149799345	0.0014	0.0014	0.0011	0.0017	0.0134	0.0013	0.0013	0.0110	0.0101	0.0003	0.0007	0.0179	0	0	0.0134	0.0004	0.0023	0.0106	0.0014	0.0014	0.0013	0.0015	0.0095	0.0012	0.0012	0.0073	0.0066	0.0002	0	0.0005	0.0242	0	0	0.0068	0.0009	0.0019	0.0095	0.045	0.40832	D	0.205	0.27145	T	0.842	0.46562	P	0.321	0.41760	B	0.000087	0.51296	D	0.129540	0.999958	0.52396	D	1.1	0.28011	L	2.87	0.10386	T	-0.61	0.18042	N	0.222	0.25989	-1.0161	0.24980	T	0.021	0.08639	T	10	0.004128903	0.00081	T	.	.	.	0.147	0.38986	.	.	0.221890330934	0.21812	0.18196097492644409	0.18115	0.638735978135	0.57575	0.689908981323	0.65693	T	0.012475	0.10959	T	-0.483591	0.00705	T	-0.458027	0.26816	T	0.0364715312035745	0.03063	T	0.79772	0.44184	T	0.14119413	0.32544	0.14045286	0.33479	0.14119413	0.32544	0.14045286	0.33478	-5.163	0.38563	T	.	.	0.132	0.31456	B	.;.;.	.;.;.	2.863044	0.37831	20.6	0.93165849342801133	0.22820	0.94731	0.62136	D	AEFDBCI	0.391223	0.46975	N	-0.0280916914730184	0.40586	2.412805	0.0229660518386293	0.40784	2.439533	0.999999999996887	0.74766	0.695654	0.57023	0	0.379588	0.06130	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.18	5.18	0.71140	1.798000	0.38449	9.871000	0.82128	0.654000	0.53741	0.969000	0.34210	1.000000	0.68203	0.402000	0.26827	0.0:0.0:1.0:0.0	16.225	0.82106	929	0.16858	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010628	0.000000	0.013661	0.008772	0.050000	0.008772	0.015432	0.007576	0.1667	795.06	42	chr22	21445988	.	G	A	795.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.526;DP=192;ExcessHet=0.4139;FS=5.162;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=0.731;SOR=0.277	GT:AD:DP:GQ:PL	0/1:18,20:38:99:609,0,582	4	0	2	0
chr22	23311788	23311788	-	CCGG	exonic	BCR	.	frameshift insertion	BCR:NM_021574:exon18:c.3142_3143insCCGG:p.V1050Rfs*17,BCR:NM_004327:exon19:c.3274_3275insCCGG:p.V1094Rfs*17	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	25	583	905	9	0	923	0.441838	.	.	.	1196252	Chronic_myelogenous_leukemia,_BCR-ABL1_positive|not_provided	Human_Phenotype_Ontology:HP:0005506,Human_Phenotype_Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs372013175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1755.92	87	chr22	23311788	.	T	TCCGG	1755.92	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.75;DP=317;ExcessHet=3.1439;FS=24.364;MLEAC=4;MLEAF=0.333;MQ=54.19;MQRankSum=-4.822;QD=8.02;ReadPosRankSum=0.251;SOR=2.113	GT:AD:DP:GQ:PL	0/1:28,10:38:99:335,0,1106	2	0	4	0
chr22	23311830	23311830	G	A	exonic	BCR	.	nonsynonymous SNV	BCR:NM_021574:exon18:c.G3184A:p.D1062N,BCR:NM_004327:exon19:c.G3316A:p.D1106N	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	59	994	464	5	0	474	0.192526	.	.	.	247185	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.231	0.0272677260962	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879255379	3.426e-06	6.156e-06	5.454e-06	1.377e-06	2.994e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.994e-05	2.236e-05	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35726	T	0.018	0.59732	D	0.976	0.58310	D	0.752	0.56092	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.765	0.19305	N	2.66	0.12575	T	-3.28	0.65627	D	0.843	0.83885	-1.1463	0.01139	T	0.053	0.22423	T	10	0.81994617	0.81205	D	0.027268	0.50098	D	0.231	0.53208	.	.	0.600008996327	0.59681	0.3965005129848048	0.39565	2.73974519172	0.98685	0.815404891968	0.84322	D	0.308497	0.68058	T	-0.175721	0.24374	T	-0.490187	0.23372	T	0.916451156139374	0.57389	D	0.875712	0.89686	D	0.43747994	0.63240	0.3549618	0.61031	0.43747994	0.63240	0.3549618	0.61031	-6.831	0.53477	T	.	.	0.771	0.75988	P	.;.	.;.	5.927754	0.94089	33	0.99910446622876614	0.98022	0.98481	0.83233	D	AEFBI	0.912634	0.87354	D	0.533033419009816	0.69054	5.303049	0.562786706860508	0.72290	5.786788	0.9999990001556	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.49	4.49	0.54177	9.664000	0.97881	6.611000	0.56088	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:1.0:0.0	16.632	0.84893	940	0.13648	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	350.39	69	chr22	23311830	.	G	A	350.39	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.79;DP=265;ExcessHet=1.383;FS=32.833;MLEAC=3;MLEAF=0.25;MQ=56.47;MQRankSum=-5.318;QD=3.47;ReadPosRankSum=-2.107;SOR=5.084	GT:AD:DP:GQ:PL	0/1:25,4:29:50:50,0,683	3	0	3	0
chr22	23744210	23744210	C	T	exonic	ZNF70	.	nonsynonymous SNV	ZNF70:NM_021916:exon2:c.G931A:p.D311N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.00295109493687	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1256353654	6.852e-06	6.84e-06	2.727e-06	1.102e-05	3e-05	3.47e-06	2.53e-06	1.94e-06	1.28e-06	3e-05	2.259e-05	0	0	0	0	5.4e-06	1.659e-05	1.166e-05	1.375e-05	1.344e-05	1.343e-05	1.408e-05	3.041e-05	2.28e-06	8.6e-07	5.04e-06	1.89e-06	0	0	0	0	0	0	0	3.041e-05	0	0	1.0	0.00964	T	0.898	0.03065	T	0.318	0.32936	B	0.038	0.23361	B	.	.	.	.	0.999999	0.08975	N	0.725	0.18768	N	3.2	0.07236	T	1.68	0.00591	N	0.062	0.03392	-1.0035	0.28903	T	0.014	0.05513	T	9	0.033715934	0.01556	T	0.002951	0.06280	T	0.073	0.21317	0.25	0.18757	0.0401082797425	0.02173	0.01958531669509605	0.01912	0.135798255112	0.15315	0.40876814723	0.26286	T	0.034004	0.23145	T	-0.466215	0.00898	T	-0.824597	0.01362	T	0.0743840935784381	0.09253	T	0.150085	0.01260	T	0.066973746	0.14460	0.07632017	0.16891	0.066973746	0.14459	0.07632017	0.16891	-2.561	0.06212	T	.	.	0.108	0.20430	B	.	.	1.187596	0.15784	12.10	0.11901843020970364	0.00192	0.13929	0.18130	N	AEFDBHCI	0.059244	0.11175	N	-0.73015865782366	0.15178	0.7626496	-0.720137228704342	0.16460	0.8708311	0.0261067758045982	0.13692	0.562547	0.31514	0	0.614415	0.52539	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.47	3.47	0.38831	-1.210000	0.03109	0.855000	0.22175	0.597000	0.34315	0.000000	0.06391	0.000000	0.08366	0.026000	0.12556	0.0:0.775:0.225:0.0	9.096	0.35799	976	0.04745	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	.	.	.	.	.	.	.	.	0.08333	953.83	34	chr22	23744210	.	C	T	953.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.59;DP=267;ExcessHet=0;FS=1.774;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=-1.454;SOR=0.494	GT:AD:DP:GQ:PL	0/1:54,36:90:99:964,0,1356	5	0	1	0
chr22	24000092	24000092	C	T	exonic	GSTT4	.	nonsynonymous SNV	GSTT4:NM_001358664:exon4:c.G511A:p.V171M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1479077419	0.0007	4.135e-05	0	0.0011	0.0192	0.0002	9.843e-05	0.0034	0.0014	0.0192	0	0	0	0	0.0006	0	0	0	0.0010	0.0012	0.0011	0.0010	0.0033	0.0009	0.0009	0.0029	0.0027	0.0033	0	0.0006	0	0	0	0	0.0001	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05579397	0.06153	T	.	.	.	.	.	.	.	.	.	0.2333586619379872	0.23250	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29847	0.05558	T	0.042250685	0.06374	0.1477872	0.34960	0.042250685	0.06374	0.1477872	0.34959	-5.127	0.38190	T	.	.	0.181	0.39373	B	.	.	2.750515	0.36054	20.1	0.70931692165534566	0.09459	0.02702	0.07349	N	AEFGI	.	.	.	.	.	.	.	.	.	4.70852677689962E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.134058	0.26174	2.93	0.326	0.15150	-1.145000	0.03305	-1.259000	0.05884	-0.457000	0.05124	0.000000	0.06391	0.000000	0.08366	0.610000	0.31640	0.0:0.2055:0.4088:0.3857	4.755	0.12452	929	0.16858	Glutathione S-transferase, C-terminal|Glutathione S-transferase, C-terminal-like|Glutathione S-transferase Theta, 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	.	.	.	.	.	.	.	.	0.1667	81.4	3	chr22	24000092	.	C	T	81.4	.	AC=2;AF=0.167;AN=12;DP=18;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=20.35;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,4:4:12:99,12,0	5	1	0	0
chr22	24232851	24232851	G	A	exonic	GGT5	.	nonsynonymous SNV	GGT5:NM_001302465:exon2:c.C341T:p.A114V,GGT5:NM_001099782:exon3:c.C472T:p.R158W,GGT5:NM_001302464:exon3:c.C472T:p.R158W,GGT5:NM_001099781:exon4:c.C568T:p.R190W,GGT5:NM_004121:exon4:c.C568T:p.R190W	.	405	1115	2	0	0	2	0.000896057	.	.	.	2673056	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.083	0.0546425233167	7.7e-05	0.000199681	0.0003	0.0006	0.0009	0	0	0.0004	0	0	9.06e-05	14	154602	rs146969821	7.681e-05	0.0001	7.161e-05	8.214e-05	0.0022	6.495e-05	6.037e-05	0.0013	0.0010	0.0002	0.0001	0	2.673e-05	0	0.0022	5.916e-05	0.0003	5.029e-05	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.698e-05	0.0001	9.904e-05	0.0002	0	0.0003	0	0	0	0	0.0002	0	0	0.003	0.68238	D	0.003	0.76473	D	0.988	0.67487	D	0.764	0.63276	P	0.376865	0.04396	N	1.433940	1	0.08975	N	2.015	0.55033	M	1.9	0.23486	T	-2.78	0.61435	D	0.508	0.56489	-0.9001	0.47983	T	0.116	0.40986	T	10	0.16185963	0.30350	T	0.054643	0.65935	D	0.145	0.38592	.	.	0.305410167561	0.30157	0.7722193506555136	0.77171	0.721110815847	0.62218	0.378246188164	0.22006	T	0.175463	0.52506	T	-0.124074	0.32460	T	-0.416	0.31534	T	0.125588240145167	0.14969	T	0.877812	0.59215	D	0.34906015	0.56994	0.3010832	0.56141	0.34906015	0.56994	0.3010832	0.56140	-7.126	0.55165	T	.	.	0.141	0.30920	B	.;.;.	.;.;.	2.419895	0.31114	18.64	0.9966650081894457	0.78266	0.09638	0.15349	N	AEFDBI	0.198417	0.32528	N	-0.677371209525004	0.16668	0.8512222	-0.910126465179528	0.11855	0.6064943	0.00445417175288555	0.10566	0.706548	0.73137	0	0.573888	0.26702	0	0.59043	0.30614	0	0.714379	0.83352	0	.	.	3.61	-1.73	0.07646	-0.380000	0.07484	-0.686000	0.07862	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.0:0.0:0.3136:0.6864	10.362	0.43181	878	0.29785	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004103	0.000000	0.006831	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	458.83	46	chr22	24232851	.	G	A	458.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.35;DP=213;ExcessHet=0;FS=1.475;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=0.608;SOR=0.382	GT:AD:DP:GQ:PL	0/1:14,18:32:99:469,0,294	5	0	1	0
chr22	28094109	28094109	C	G	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon12:c.G3903C:p.E1301D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.468	0.015119169129	.	.	.	.	.	.	.	.	.	.	.	.	.	rs752887321	8.581e-06	8.209e-06	7.055e-06	1.015e-05	3.169e-05	4.58e-06	3.61e-06	4.69e-06	3.42e-06	3.169e-05	0	0	0	0	0	9.271e-06	1.725e-05	0	1.971e-05	1.97e-05	2.57e-05	1.345e-05	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.287	0.29959	T	0.861	0.92824	T	0.266	0.31648	B	0.037	0.23121	B	0.000000	0.84330	D	0.000000	0.999892	0.50595	D	1.79	0.46772	L	-2.52	0.89363	D	-0.38	0.54864	N	0.552	0.57775	-0.5342	0.67382	T	0.370	0.72932	T	10	0.20138353	0.36219	T	0.015119	0.35666	T	0.468	0.76289	0.221	0.14371	0.370051654043	0.36618	0.417855586631884	0.41701	.	.	0.684494137764	0.64914	T	0.008295	0.40634	T	0.143231	0.68632	D	-0.0320351	0.68233	D	0.862507939338684	0.51281	D	0.952005	0.82322	D	0.16308385	0.36426	0.12747148	0.30685	0.16308385	0.36426	0.12747148	0.30684	-5.237	0.39315	T	.	.	0.158	0.55706	B	.;.;.	.;.;.	2.904610	0.38512	20.8	0.99736936877185134	0.83192	0.94146	0.60251	D	AEFDGI	0.457248	0.50877	N	-0.28175293321749	0.29852	1.659241	-0.0912417734990299	0.35752	2.072105	0.801144008797942	0.24188	0.653281	0.48532	0	0.588015	0.36545	0	0.675528	0.61593	0	0.635551	0.53088	0	.	.	5.69	3.57	0.40014	1.490000	0.35181	0.433000	0.18345	0.599000	0.40250	1.000000	0.71638	0.994000	0.32194	0.995000	0.73285	0.0:0.7766:0.0:0.2234	9.254	0.36731	941	0.13089	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	679.83	35	chr22	28094109	.	C	G	679.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.166;DP=231;ExcessHet=0;FS=5.322;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=0.965;SOR=0.278	GT:AD:DP:GQ:PL	0/1:28,30:58:99:690,0,822	5	0	1	0
chr22	32447330	32447330	T	C	exonic	BPIFC	.	nonsynonymous SNV	BPIFC:NM_174932:exon3:c.A256G:p.S86G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00527384241246	0.0016	0.000798722	0.0016	0.0003	0.0003	0	0.0002	0.0027	0.0011	6.245e-05	0.0016106	249	154602	rs143287045	0.0019	0.0019	0.0019	0.0019	0.0022	0.0018	0.0018	0.0021	0.0021	0.0003	0.0008	0.0064	2.519e-05	0.0002	0.0007	0.0022	0.0019	2.324e-05	0.0015	0.0015	0.0016	0.0013	0.0027	0.0013	0.0013	0.0024	0.0022	0.0005	0	0.0004	0.0040	0	0	0.0034	0.0027	0.0024	0.0002	0.399	0.10517	T	0.048	0.48594	D	0.011	0.15914	B	0.014	0.16862	B	0.016282	0.28016	N	0.439260	1	0.81001	D	0.805	0.20218	L	3.26	0.06681	T	-1.75	0.41428	N	0.148	0.15046	-0.9569	0.39753	T	0.014	0.05753	T	10	0.008373916	0.00190	T	0.005274	0.13464	T	0.024	0.04979	.	.	0.220303561663	0.21668	0.2959185711020405	0.29504	0.0648718899618	0.07242	0.256910830736	0.04530	T	0.01198	0.10603	T	-0.648563	0.00074	T	-0.700667	0.05789	T	0.00292648101636052	0.00031	T	0.424358	0.11346	T	0.14329569	0.32940	0.12448341	0.30003	0.14329569	0.32940	0.12448341	0.30003	-6.541	0.50602	T	.	.	0.082	0.08705	B	.;.	.;.	2.490487	0.32130	18.95	0.98766492585533949	0.45893	0.67817	0.33571	D	AEFBI	0.130416	0.24897	N	-0.340714388066574	0.27615	1.51652	-0.132733592340394	0.34080	1.956374	0.00646163299940143	0.11224	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.87	4.82	0.61641	1.023000	0.29668	0.529000	0.19232	0.665000	0.62972	0.971000	0.34370	0.443000	0.24914	0.974000	0.55675	0.0:0.0:0.167:0.833	10.208	0.42300	602	0.67834	Lipid-binding serum glycoprotein, N-terminal|Lipid-binding serum glycoprotein, N-terminal;Lipid-binding serum glycoprotein, N-terminal|Lipid-binding serum glycoprotein, 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	.	.	.	.	.	.	.	.	0.08333	419.83	34	chr22	32447330	.	T	C	419.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.225;DP=227;ExcessHet=0;FS=2.719;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.75;ReadPosRankSum=-0.115;SOR=1.219	GT:AD:DP:GQ:PL	0/1:28,20:48:99:430,0,690	5	0	1	0
chr22	38298905	38298905	G	A	exonic	CSNK1E;TPTEP2-CSNK1E	.	nonsynonymous SNV	CSNK1E:NM_001894:exon7:c.C766T:p.R256C,CSNK1E:NM_152221:exon7:c.C766T:p.R256C,TPTEP2-CSNK1E:NM_001289912:exon11:c.C766T:p.R256C	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.407	0.137560726497	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	4.084e-06	1.375e-06	3.597e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.4	0.98649	H	2.8	0.11082	T	-6.91	0.93329	D	0.879	0.87699	-0.6817	0.61293	T	0.152	0.48101	T	10	0.8728824	0.86564	D	0.137561	0.82006	D	0.407	0.71946	0.67	0.80803	0.783118566124	0.78111	0.9714520396320456	0.97145	2.85426414979	0.99028	0.909465909004	0.97419	D	0.816123	0.95455	D	0.271903	0.80611	D	0.152794	0.80360	D	0.99974113702774	0.98780	D	0.973003	0.90263	D	0.85525334	0.87727	0.6297124	0.78402	0.85525334	0.87728	0.6297124	0.78403	-12.351	0.86518	D	.	.	0.990	0.94130	P	.;.;.;.;.;.	.;.;.;.;.;.	6.436371	0.95208	34	0.99926838542805374	0.99103	0.95133	0.63559	D	ALL	0.909181	0.86547	D	0.925404993765464	0.92948	11.72643	0.764853083555475	0.87264	9.161916	1.0	0.98316	0.706548	0.73137	0	0.702456	0.74545	0	0.67197	0.60751	0	0.714379	0.83352	0	.	.	4.95	2.85	0.32333	9.959000	0.99016	11.710000	0.94638	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0739:0.1363:0.7897:0.0	10.246	0.42519	326	0.86709	Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1475.83	37	chr22	38298905	.	G	A	1475.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.32;DP=280;ExcessHet=0;FS=0.724;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=-1.414;SOR=0.59	GT:AD:DP:GQ:PL	0/1:50,58:108:99:1486,0,1137	5	0	1	0
chr22	41925447	41925447	G	A	exonic	TNFRSF13C	.	nonsynonymous SNV	TNFRSF13C:NM_052945:exon3:c.C475T:p.H159Y	Immunodeficiency, common variable, 4, Autosomal recessive	1	1457	58	6	0	70	0.0234584	.	.	.	433980	Immunodeficiency,_common_variable,_4|not_provided	MONDO:MONDO:0013284,MedGen:C3150739,OMIM:613494,Orphanet:1572|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.170	.	0.0052	0.00339457	0.0056	0.0022	0.0075	0	0.0025	0.0068	0.0113	0.0056	0.0054462	842	154602	rs61756766	0.0058	0.0058	0.0056	0.0060	0.0175	0.0057	0.0057	0.0148	0.0137	0.0010	0.0071	0.0047	0	0.0028	0.0175	0.0063	0.0063	0.0053	0.0058	0.0058	0.0062	0.0054	0.0114	0.0055	0.0054	0.0100	0.0095	0.0014	0	0.0114	0.0049	0	0.0024	0.0102	0.0082	0.0123	0.0042	0.0	0.91255	D	0.0	0.92824	D	0.994	0.66517	D	0.782	0.57384	P	0.000050	0.53742	D	0.000000	0.977083	0.39334	D	1.845	0.48678	L	1.12	0.38718	T	-5.5	0.85844	D	0.577	0.59901	-0.9272	0.44545	T	0.107	0.39027	T	10	0.008018851	0.00182	T	.	.	.	0.170	0.43303	.	.	0.171220215726	0.16700	0.24987367141535083	0.24901	2.05243479993	0.94345	0.620077431202	0.55740	T	0.719618	0.92065	D	-0.243223	0.14939	T	-0.114188	0.62276	T	0.0335856785113751	0.02568	T	0.572743	0.20478	T	0.809143	0.84497	0.7438588	0.84860	0.809143	0.84498	0.7438588	0.84861	-5.305	0.39993	T	0.7740092395808532	0.85470	0.357	0.57003	A	.	.	4.121410	0.61610	24.4	0.99719896673004715	0.81984	0.79281	0.39256	D	AEFDGBCI	0.531585	0.55180	D	0.494203397348341	0.66748	4.990736	0.518743897306911	0.69252	5.333989	0.999999999999299	0.74766	0.65757	0.49021	0	0.52208	0.09955	0	0.619478	0.44681	0	0.63947	0.58350	0	.	.	5.33	5.33	0.75683	3.829000	0.55461	11.413000	0.92696	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.726000	0.34967	0.0:0.0:1.0:0.0	14.897	0.70291	130	0.94779	.	.	.	.	.	rs61756766	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019134	0.025253	0.021798	0.032353	0.000000	0.008621	0.009146	0.011364	0.1667	1406.06	40	chr22	41925447	.	G	A	1406.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.489;DP=267;ExcessHet=0.4139;FS=0.7;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=0.441;SOR=0.823	GT:AD:DP:GQ:PL	0/1:27,32:59:99:778,0,647	4	0	2	0
chr22	42128812	42128812	A	G	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon3:c.T485C:p.L162P,CYP2D6:NM_000106:exon4:c.T638C:p.L213P	.	1	1317	204	0	0	204	0.0718816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0602619546016	.	.	0.0034	0.0012	0.0015	0.0014	0.0018	0.0047	0.0040	0.0021	0.0023544	364	154602	rs199535154	0.0003	0.0094	0.0003	0.0003	0.0022	0.0002	0.0002	0.0013	0.0011	0.0015	0.0003	0.0004	0.0006	0.0006	0.0022	0.0002	0.0003	0.0003	0.0001	0.0016	6.523e-05	0.0002	0.0004	7.691e-05	6.376e-05	0.0001	8.654e-05	0.0002	0	0	0	0.0004	0	0	0.0001	0	0	0.016	0.72154	D	0.004	0.74150	D	.	.	.	.	.	.	0.079050	0.21007	N	0.393637	0.984414	0.40142	D	3.135	0.88152	M	-1.43	0.80730	T	-5.73	0.87611	D	0.817	0.81261	0.414	0.89311	D	0.663	0.88295	D	10	0.12101528	0.22933	T	0.060262	0.67943	D	0.557	0.81774	.	.	0.906819982349	0.90588	0.8191287958858098	0.81869	0.67802315983	0.59861	0.312496066093	0.12283	T	0.044594	0.40051	T	0.029515	0.55659	T	0.219179	0.84132	D	0.250423282384872	0.22892	T	0.739826	0.35853	T	0.5728783	0.71218	0.38634163	0.63529	0.5728783	0.71219	0.38634163	0.63529	-9.555	0.71201	D	.	.	0.479	0.69738	A	.;.;.;.;.	.;.;.;.;.	3.184167	0.43231	21.7	0.99267575361889293	0.57423	0.11286	0.16533	N	AEFDBI	0.398871	0.47438	N	0.0379738385441093	0.43589	2.64896	-0.230169009795182	0.30461	1.715271	5.06273264100705E-4	0.07176	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	3.52	3.52	0.39415	2.920000	0.48541	1.949000	0.29874	-0.094000	0.16080	0.013000	0.18845	0.000000	0.08366	0.000000	0.00833	1.0:0.0:0.0:0.0	8.696	0.33455	106	0.95650	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018182	0.005747	0.016484	0.050420	0.000000	0.043860	0.003546	0.004065	0.1667	409.06	131	chr22	42128812	.	A	G	409.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.19;DP=681;ExcessHet=0.4139;FS=11.141;MLEAC=2;MLEAF=0.167;MQ=51.95;MQRankSum=-4.977;QD=1.56;ReadPosRankSum=-2.105;SOR=1.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,18:149:99:0|1:42128812_A_G:361,0,5447:42128812	4	0	2	0
chr22	42129036	42129036	A	C	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_000106:exon3:c.T502G:p.S168A	.	1	1438	82	1	0	84	0.0283784	.	.	.	2335774	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.226	0.0374404408606	.	.	5.046e-05	0	0	0	0	0	0	0.0003	2.59e-05	4	154602	rs1135826	7.432e-05	0.0003	6.98e-05	7.889e-05	0.0014	6.285e-05	5.842e-05	0.0007	0.0005	3.025e-05	6.805e-05	0.0002	0	0	0.0014	4.063e-05	0.0003	0.0003	0.0002	0.0014	0.0001	0.0002	0.0002	0.0001	8.847e-05	0.0001	0.0001	0.0002	0	6.584e-05	0	0	0	0.0034	0.0002	0	0	1.0	0.00964	T	0.807	0.04129	T	.	.	.	.	.	.	0.001903	0.00839	N	3.539820	1	0.08975	N	-0.73	0.01772	N	-1.27	0.79277	T	0.16	0.05217	N	0.128	0.13341	-0.7799	0.56308	T	0.115	0.40740	T	10	0.08526772	0.14379	T	0.03744	0.57615	D	0.226	0.52472	0.373	0.38503	0.298056030225	0.29408	0.21059068015497262	0.20975	0.0911008931681	0.10288	0.420034706593	0.27840	T	7.8E-4	0.03040	T	-0.140885	0.29750	T	-0.440148	0.28791	T	0.0133200469642442	0.00239	T	0.146485	0.01205	T	0.18169317	0.39352	0.08126632	0.18454	0.18169317	0.39351	0.08126632	0.18454	-1.576	0.01927	T	.	.	0.070	0.03625	B	.;.;.;.	.;.;.;.	-0.970736	0.00813	0.027	0.31847947949166644	0.01816	0.00025	0.00253	N	AEFDGBI	0.083503	0.16918	N	-2.07234760809253	0.00147	0.006303923	-1.9906736949729	0.00321	0.01415437	3.76170252761087E-4	0.06745	0.580535	0.33130	0	0.550933	0.16991	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.22	-0.285	0.12229	-0.679000	0.05304	-1.696000	0.04897	-2.376000	0.00301	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4003:0.4827:0.0:0.117	4.833	0.12812	106	0.95650	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08333	65.83	109	chr22	42129036	.	A	C	65.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.59;DP=395;ExcessHet=0;FS=27.263;MLEAC=1;MLEAF=0.083;MQ=58.3;MQRankSum=-8.63;QD=0.87;ReadPosRankSum=-2.977;SOR=4.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,7:76:76:0|1:42129036_A_C:76,0,2854:42129036	5	0	1	0
chr22	42129037	42129037	G	T	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_000106:exon3:c.C501A:p.H167Q	.	1	1438	82	1	0	84	0.0283784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.0114433325274	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1135825	6.054e-05	0.0003	6.431e-05	5.673e-05	0.0016	4.989e-05	4.653e-05	0.0008	0.0006	3.024e-05	4.533e-05	0.0002	0	0	0.0016	3.43e-05	0.0003	0.0001	0.0001	0.0014	0.0001	0.0002	0.0002	9.849e-05	8.347e-05	0.0001	0.0001	0.0002	0	6.569e-05	0	0	0	0.0034	0.0001	0	0	0.613	0.05420	T	0.754	0.06469	T	.	.	.	.	.	.	0.019125	0.01504	N	2.373600	1	0.18612	N	0.105	0.08473	N	-0.24	0.66834	T	-0.26	0.11185	N	0.128	0.12198	-0.9863	0.33518	T	0.097	0.36522	T	10	0.033819586	0.01569	T	0.011443	0.29067	T	0.107	0.30369	0.325	0.30711	0.284150004643	0.28039	0.2862462233970812	0.28537	0.111660899099	0.12603	0.421149164438	0.27995	T	7.32E-4	0.02125	T	-0.147423	0.28716	T	-0.44954	0.27747	T	0.0312476026732281	0.02185	T	0.392161	0.19325	T	0.15265977	0.34644	0.10768169	0.25927	0.15265977	0.34643	0.10768169	0.25927	-4.958	0.36381	T	.	.	0.150	0.33133	B	.;.;.;.	.;.;.;.	-1.649188	0.00217	0.003	0.53561482879806321	0.04964	0.01961	0.05950	N	AEFDGBI	0.236213	0.35870	N	-2.59474423185388	0.00009	0.0004161119	-2.63484367521019	0.00011	0.0004984315	0.599001188279606	0.21710	0.580535	0.33130	0	0.550933	0.16991	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.22	-6.44	0.01749	-3.995000	0.00358	-5.233000	0.01796	-0.839000	0.02805	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3374:0.1501:0.3861:0.1264	2.157	0.03582	106	0.95650	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	65.83	110	chr22	42129037	.	G	T	65.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.8;DP=394;ExcessHet=0;FS=27.232;MLEAC=1;MLEAF=0.083;MQ=58.36;MQRankSum=-8.63;QD=0.87;ReadPosRankSum=-3.077;SOR=4.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,7:76:76:0|1:42129036_A_C:76,0,2854:42129036	5	0	1	0
chr22	42514716	42514716	G	A	exonic	RRP7A	.	nonsynonymous SNV	RRP7A:NM_015703:exon5:c.C524T:p.T175M	.	421	1022	79	0	0	79	0.0372115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	.	0.0059	.	0.0104	0.0011	0.0031	0.0003	0.0032	0.0108	0.0188	0.0260	0.0004204	65	154602	rs141505384	0.0064	0.0072	0.0058	0.0071	0.0397	0.0063	0.0063	0.0355	0.0338	0.0014	0.0045	0.0219	0.0001	0.0027	0.0397	0.0053	0.0077	0.0209	0.0051	0.0054	0.0050	0.0051	0.0171	0.0048	0.0046	0.0141	0.0130	0.0011	0.0011	0.0061	0.0185	0	0.0019	0.0204	0.0065	0.0076	0.0171	0.032	0.44694	D	0.091	0.40110	T	0.999	0.77913	D	0.912	0.64797	D	0.681722	0.10252	N	0.859961	0.999988	0.18198	N	1.625	0.41611	L	1.84	0.24656	T	-2.21	0.49684	N	0.287	0.32481	-1.0487	0.14761	T	0.102	0.37743	T	10	0.010819316	0.00239	T	.	.	.	0.108	0.30607	.	.	0.483153943251	0.47947	0.24857725245994056	0.24771	2.62205694876	0.98273	0.403813183308	0.25599	T	0.136585	0.46904	T	-0.522364	0.00426	T	-0.507521	0.21570	T	0.0123048667362909	0.00199	T	0.834017	0.50309	T	0.089632064	0.20948	0.12695254	0.30567	0.089632064	0.20948	0.12695254	0.30567	-5.864	0.45127	T	.	.	0.090	0.12465	B	.	.	4.139315	0.62006	24.4	0.99785223286555202	0.87131	0.46820	0.27845	N	AEFDGBCI	0.164871	0.29130	N	0.275779643591207	0.54923	3.656973	0.135222655987922	0.46362	2.88357	0.192584466979158	0.18018	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	3.8	2.68	0.30839	3.366000	0.52068	4.582000	0.43923	0.479000	0.22080	0.920000	0.31959	0.979000	0.30280	0.250000	0.23263	0.0:0.0:0.6848:0.3152	11.166	0.47770	216	0.91608	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.027304	0.012500	0.027248	0.034483	0.000000	0.052632	0.031469	0.032787	0.08333	2136.83	153	chr22	42514716	.	G	A	2136.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.876;DP=588;ExcessHet=0;FS=2.077;MLEAC=1;MLEAF=0.083;MQ=50.85;MQRankSum=-3.477;QD=7.45;ReadPosRankSum=-0.655;SOR=0.839	GT:AD:DP:GQ:PL	0/1:188,99:287:99:2147,0,4564	5	0	1	0
chr22	42573937	42573937	A	G	exonic	SERHL2	.	nonsynonymous SNV	SERHL2:NM_001284334:exon10:c.A635G:p.Q212R,SERHL2:NM_014509:exon12:c.A827G:p.Q276R	.	428	1066	25	2	1	30	0.0134197	.	.	.	3886735	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.042	0.00273946324379	0.0018	0.00239617	0.0023	0.0016	0.0004	0.0014	0.0027	0.0032	0.0022	0.0011	0.0030077	465	154602	rs138265477	0.0038	0.0047	0.0038	0.0038	0.0038	0.0037	0.0036	0.0037	0.0037	0.0010	0.0016	0.0099	0.0021	0.0062	0.0037	0.0038	0.0044	0.0026	0.0059	0.0077	0.0058	0.0060	0.0084	0.0055	0.0054	0.0075	0.0073	0.0019	0.0143	0.0049	0.0105	0.0013	0.0062	0.0106	0.0081	0.0048	0.0084	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.340459	0.13971	N	0.660400	1	0.28491	N	-1.545	0.00469	N	2.63	0.12884	T	1.04	0.01350	N	0.018	0.01911	-0.9322	0.43814	T	0.007	0.02518	T	10	0.0032922626	0.00057	T	0.002739	0.05665	T	0.042	0.11227	.	.	0.0138822411134	0.00435	0.12637963387391346	0.12563	0.00194193416123	0.00161	0.314020216465	0.12514	T	0.001342	0.00816	T	-0.616796	0.00115	T	-0.649366	0.08998	T	0.00100489590793231	0.00010	T	0.136686	0.03932	T	0.028621312	0.02227	0.04173513	0.04812	0.028621312	0.02227	0.04173513	0.04812	-0.233	0.04655	T	.	.	0.064	0.01645	B	.;.;.	.;.;.	-0.362353	0.02357	0.256	0.69060806457524659	0.08852	0.05371	0.11233	N	AEFDGBCI	0.028698	0.02576	N	-1.69285038434225	0.00867	0.03753006	-1.55999469358862	0.01908	0.08702481	4.14785957651922E-4	0.06899	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.05	0.677	0.17130	0.374000	0.20232	-0.109000	0.11851	-2.314000	0.00318	0.746000	0.29090	0.000000	0.08366	0.035000	0.13729	0.5051:0.0:0.4949:0.0	9.210	0.36477	254	0.90023	Alpha/beta hydrolase fold-1;.;.	.	.	.	.	rs138265477	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001586	0.000000	0.001359	0.000000	0.000000	0.025862	0.000000	0.000000	0.08333	78.83	112	chr22	42573937	.	A	G	78.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.46;DP=407;ExcessHet=0;FS=12.654;MLEAC=1;MLEAF=0.083;MQ=56.05;MQRankSum=-6.525;QD=1.38;ReadPosRankSum=-3.414;SOR=2.821	GT:AD:DP:GQ:PL	0/1:49,8:57:89:89,0,1231	5	0	1	0
chr22	43999403	43999403	C	G	exonic	PARVB	.	nonsynonymous SNV	PARVB:NM_001003828:exon1:c.C63G:p.N21K	.	428	1079	15	0	0	15	0.0069029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00204441837525	.	0.00119808	0.0015	0	0.0010	0.0002	0	0.0002	0.0014	0.0091	0.0009573	148	154602	rs140454524	0.0005	0.0005	0.0003	0.0008	0.0079	0.0005	0.0005	0.0074	0.0072	0	6.805e-05	0	2.521e-05	1.876e-05	0.0019	5.138e-05	0.0007	0.0079	0.0003	0.0003	0.0002	0.0005	0.0087	0.0003	0.0002	0.0066	0.0059	0	0	0	0	0	0	0	0.0001	0	0.0087	0.298	0.14595	T	0.117	0.36365	T	0.183	0.29179	B	0.012	0.16012	B	.	.	.	.	1	0.08975	N	.	.	.	1.41	0.33412	T	-0.18	0.09796	N	0.18	0.19459	-1.0058	0.28216	T	0.032	0.13767	T	9	0.0037337542	0.00069	T	0.002044	0.03721	T	0.011	0.01250	.	.	0.15556083564	0.15200	0.10647851981650482	0.10577	0.188472968032	0.21169	.	.	.	.	.	.	-0.597127	0.00152	T	-0.626083	0.10713	T	0.0247425993854786	0.01239	T	0.412159	0.10706	T	.	.	.	.	.	.	.	.	-2.292	0.04511	T	.	.	0.106	0.19559	B	.	.	0.666007	0.10347	7.073	0.94947853673651195	0.25851	0.03986	0.09403	N	AEFDBI	0.040585	0.06057	N	-1.32780328078381	0.03361	0.1499888	-1.42193951164953	0.03033	0.1407331	0.817803324388746	0.24470	0.372202	0.05800	0	0.546412	0.12157	0	0.54472	0.12158	0	0.491896	0.07777	0	.	.	2.25	-1.33	0.08693	-0.484000	0.06608	-1.732000	0.04828	-0.313000	0.06017	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.2678:0.4182:0.0:0.314	2.248	0.03790	811	0.42639	.	.	.	.	.	.	Likely benign	0	0	0	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	0.003021	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.015152	0.08333	624.83	34	chr22	43999403	.	C	G	624.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.512;DP=244;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.19;ReadPosRankSum=1.46;SOR=0.674	GT:AD:DP:GQ:PL	0/1:40,28:68:99:635,0,1063	5	0	1	0
chr22	50551313	50551313	C	T	exonic	SYCE3	.	nonsynonymous SNV	SYCE3:NM_001123225:exon3:c.G199A:p.V67I	.	428	1091	2	1	0	4	0.00182983	.	.	.	2819784	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.014	0.00530329967615	0.0055	0.00179712	0.0038	0.0019	0.0049	0	0	0.0072	0.0053	0.0010	0.0014553	225	154602	rs55829948	0.0063	0.0060	0.0064	0.0061	0.0070	0.0062	0.0061	0.0069	0.0068	0.0010	0.0012	0.0064	0	0.0123	0.0007	0.0070	0.0055	0.0008	0.0047	0.0047	0.0046	0.0047	0.0069	0.0044	0.0043	0.0064	0.0062	0.0012	0	0.0014	0.0040	0	0.0135	0.0034	0.0069	0.0014	0.0017	0.105	0.29823	T	0.262	0.22895	T	0.079	0.24468	B	0.006	0.12133	B	.	.	.	.	0.999879	0.19925	N	.	.	.	0.96	0.42888	T	0.56	0.02680	N	0.148	0.15046	-1.0540	0.13305	T	0.047	0.20037	T	8	0.00575307	0.00128	T	0.005303	0.13556	T	0.014	0.01968	.	.	0.0806252709748	0.07271	0.4340337566062751	0.43320	.	.	0.309133201838	0.11776	T	0.081172	0.36535	T	-0.589154	0.00170	T	-0.611094	0.11896	T	0.00735141046016657	0.00084	T	0.685131	0.29365	T	0.0329032	0.03403	0.052937277	0.08818	0.0329032	0.03403	0.052937277	0.08818	-3.464	0.15931	T	.	.	0.071	0.04080	B	.;.	.;.	2.925506	0.38847	20.8	0.92885789850417544	0.22436	0.62431	0.31779	D	AEFGBI	0.130504	0.24908	N	-0.366122907652329	0.26684	1.458199	-0.226070003218566	0.30605	1.724666	0.998830304177132	0.37777	0.615465	0.37627	0	0.633656	0.55848	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	6.04	2.36	0.28258	1.469000	0.34952	5.540000	0.48867	-0.148000	0.12190	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.2341:0.1521:0.6138:0.0	6.011	0.18804	584	0.69381	.;.	.	.	.	.	rs55829948	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003341	0.000000	0.000000	0.004464	0.000000	0.029412	0.000000	0.011364	0.08333	1871.83	34	chr22	50551313	.	C	T	1871.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.554;DP=318;ExcessHet=0;FS=1.316;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=1.81;SOR=0.639	GT:AD:DP:GQ:PL	0/1:67,73:140:99:1882,0,1642	5	0	1	0
chr22	50577852	50577852	G	A	exonic	CPT1B	.	nonsynonymous SNV	CPT1B:NM_001145137:exon1:c.C64T:p.R22W,CPT1B:NM_001145134:exon2:c.C64T:p.R22W,CPT1B:NM_001145135:exon2:c.C64T:p.R22W,CPT1B:NM_004377:exon2:c.C64T:p.R22W,CPT1B:NM_152245:exon2:c.C64T:p.R22W,CPT1B:NM_152246:exon2:c.C64T:p.R22W	.	.	.	.	.	.	.	.	.	.	.	4121706	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.613	0.240524006804	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1289198003	2.737e-06	2.736e-06	1.362e-06	4.127e-06	1.159e-05	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.72154	D	0.007	0.69154	D	0.994	0.66517	D	0.677	0.53365	P	0.003257	0.35212	N	0.274240	0.983645	0.81001	D	1.79	0.46772	L	-1.91	0.84701	D	-4.17	0.85844	D	0.507	0.64137	0.349	0.88327	D	0.649	0.87770	D	10	0.5581728	0.64637	D	0.240524	0.88678	D	0.613	0.84879	0.431	0.48007	0.930815178408	0.93011	0.6181949847930598	0.61752	.	.	0.397924333811	0.24780	T	0.848547	0.96531	D	0.0441745	0.57591	T	-0.0774687	0.65090	T	0.953720927238464	0.64095	D	0.974103	0.90741	D	0.39007366	0.60037	0.24792811	0.50332	0.39007366	0.60038	0.24792811	0.50331	-8.748	0.68823	D	.	.	0.147	0.40714	B	.;.;.;.;.;.	.;.;.;.;.;.	5.025548	0.83546	28.1	0.99908284803321912	0.97875	0.88208	0.48034	D	AEFDBHIJ	0.744563	0.68751	D	0.395204888605583	0.61162	4.313613	0.394448966420173	0.61221	4.319304	0.999999837093082	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.570548	0.19454	0	0.592323	0.36904	0	.	.	5.11	4.06	0.46572	4.326000	0.59028	5.534000	0.48853	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.8313:0.1687	12.486	0.55214	592	0.68746	Carnitine O-palmitoyltransferase, N-terminal;Carnitine O-palmitoyltransferase, N-terminal;Carnitine O-palmitoyltransferase, N-terminal;Carnitine O-palmitoyltransferase, N-terminal;.;Carnitine O-palmitoyltransferase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1232.83	37	chr22	50577852	.	G	A	1232.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.144;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.68;ReadPosRankSum=-0.74;SOR=0.75	GT:AD:DP:GQ:PL	0/1:20,46:66:99:1243,0,441	5	0	1	0
chrX	6534139	6534139	G	A	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.C167T:p.A56V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	0.000264901	0.0059	0	0	0	0	0.0159	0	0	3.23e-05	5	154602	rs756580539	0.0003	0.0006	0.0004	1.316e-05	0.0085	0.0003	0.0003	0.0075	0.0071	0.0085	0.0005	5.553e-05	6.719e-05	2.562e-05	0.0007	7.5e-05	0.0007	0.0002	0.0024	0.0033	0.0032	0	0.0095	0.0021	0.0021	0.0085	0.0081	0.0095	0	0.0004	0	0	0	0	9.873e-05	0.0022	0	0.032	0.44694	D	0.045	0.52389	D	0.988	0.62325	D	0.274	0.40037	B	.	.	.	.	1	0.08975	N	2.425	0.70256	M	1.85	0.24472	T	-0.56	0.17003	N	0.143	0.19055	-1.0391	0.17587	T	0.036	0.15640	T	9	0.005564481	0.00123	T	.	.	.	0.058	0.16647	0.331	0.31681	0.043077524339	0.03247	0.0018727505187342117	0.00173	0.266002104779	0.29145	0.532794952393	0.43428	T	0.003625	0.03030	T	-0.322982	0.06657	T	-0.701718	0.05733	T	0.00955185830592866	0.00124	T	0.649735	0.26051	T	0.04415395	0.07007	0.07583206	0.16735	0.04415395	0.07007	0.07583206	0.16735	-4.831	0.34951	T	.	.	0.174	0.49353	B	.;.;.	.;.;.	1.070604	0.14528	11.10	0.9771580294359159	0.35525	0.00563	0.02562	N	AEFI	.	.	.	.	.	.	.	.	.	1.39516897430873E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.225	0.14598	-2.670000	0.00916	0.156000	0.15349	0.246000	0.18300	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	4.0E-4:0.0:0.9996:0.0	6.180	0.19678	1000	0.00083	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	60.83	42	chrX	6534139	.	G	A	60.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.29;DP=343;ExcessHet=0;FS=3.64;MLEAC=1;MLEAF=0.083;MQ=25.87;MQRankSum=-0.88;QD=0.55;ReadPosRankSum=1.54;SOR=0.812	GT:AD:DP:GQ:PL	0/1:95,16:111:71:71,0,2282	5	0	1	0
chrX	7843562	7843562	C	T	exonic	VCX	.	nonsynonymous SNV	VCX:NM_013452:exon3:c.C167T:p.A56V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.00130532179007	0.0002	.	0.0004	0.0019	0	0	0	0.0002	0	0.0010	3.84e-05	1	26028	rs369210177	0.0002	0.0004	0.0003	0	0.0030	0.0002	0.0002	0.0024	0.0022	0.0030	0.0003	0.0002	3.34e-05	0	0.0011	8.528e-05	0.0006	0.0003	0.0011	0.0016	0.0013	0	0.0031	0.0009	0.0008	0.0026	0.0023	0.0031	0	0.0005	0	0	0	0	0.0001	0.0011	0	0.052	0.45756	T	0.082	0.52389	T	0.995	0.67487	D	0.499	0.47621	P	.	.	.	.	0.999986	0.18198	N	2.395	0.69210	M	1.85	0.24472	T	-0.55	0.20791	N	0.115	0.15609	-1.0500	0.14397	T	0.043	0.18659	T	9	0.006912917	0.00157	T	0.001305	0.01809	T	0.068	0.19811	.	.	0.043077524339	0.03247	0.007763696099379276	0.00741	0.351166468122	0.36964	0.587288856506	0.51112	T	0.009024	0.08246	T	-0.395256	0.02487	T	-0.805535	0.01768	T	0.0145451666878309	0.00297	T	0.627137	0.25361	T	0.03764651	0.04865	0.07056679	0.15008	0.03764651	0.04865	0.07056679	0.15008	-4.845	0.35111	T	.	.	0.145	0.47965	B	.;.;.	.;.;.	0.586019	0.09544	6.321	0.96379665916495549	0.29614	0.01472	0.04908	N	AEFI	.	.	.	.	.	.	.	.	.	1.24494919694729E-5	0.02871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.167	0.14292	-2.113000	0.01418	-0.556000	0.08502	0.296000	0.18849	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	1.0E-4:0.5203:0.4794:1.0E-4	3.808	0.08303	1000	0.00083	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.006146	0.000000	0.005894	0.013158	0.000000	0.000000	0.000000	0.012739	0.08333	67.86	32	chrX	7843562	.	C	T	67.86	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.953;DP=275;ExcessHet=0;FS=4.082;MLEAC=1;MLEAF=0.083;MQ=25.88;MQRankSum=0.638;QD=1.58;ReadPosRankSum=-0.691;SOR=1.826	GT:AD:DP:GQ:PL	0/1:36,7:43:78:78,0,873	5	0	1	0
chrX	7843857	7843976	GAGTCAGGAGAGCGAGGTGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACC	-	exonic	VCX	.	nonframeshift deletion	VCX:NM_013452:exon3:c.462_581del:p.V160_E199del	.	491	1013	15	2	1	20	0.00929095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0004	0	0.0004	0	0.0005	0	0.0002	.	.	.	.	0.0011	0.0015	0.0010	0.0012	0.0012	0.0010	0.0010	0.0009	0.0009	0.0003	0.0007	0.0028	0.0002	0.0031	0.0012	0.0009	0.0017	0.0011	0.0021	0.0026	0.0024	9.715e-05	0.0030	0.0018	0.0017	0.0024	0.0022	0.0030	0.0026	0.0021	0.0019	0	0.0016	0	0.0018	0.0013	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	521.71	123	chrX	7843856	.	TGAGTCAGGAGAGCGAGGTGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACC	T	521.71	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.456;DP=1137;ExcessHet=0;FS=7.182;MLEAC=1;MLEAF=0.1;MQ=51.37;MQRankSum=-5.46;QD=1.2;ReadPosRankSum=0.489;SOR=1.467	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:383,53:436:99:0|1:7843856_TGAGTCAGGAGAGCGAGGTGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACC_T:531,0,14952:7843856	4	0	1	1
chrX	8170285	8170285	G	A	exonic	VCX2	.	nonsynonymous SNV	VCX2:NM_016378:exon3:c.C167T:p.A56V	.	614	905	2	1	0	4	0.00220507	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00237650957644	0.0002	.	0.0006	0.0017	0	0	0	8.315e-05	0	0.0026	0.0003169	49	154602	rs373489800	0.0002	0.0003	0.0002	0.0003	0.0026	0.0002	0.0002	0.0022	0.0021	0.0012	0.0006	0.0001	0.0001	0	0	5.829e-05	0.0004	0.0026	0.0003	0.0004	0.0003	0	0.0022	0.0002	0.0001	0.0004	0.0002	0.0005	0	0.0008	0	0.0006	0	0	6.135e-05	0	0.0022	0.02	0.49613	D	0.04	0.50809	D	0.976	0.58310	D	0.695	0.53983	P	.	.	.	.	1	0.08975	N	2.085	0.57729	M	1.85	0.24472	T	-2.2	0.49519	N	0.054	0.02559	-1.0457	0.15621	T	0.081	0.32031	T	8	0.009745508	0.00219	T	0.002377	0.04646	T	0.031	0.07369	.	.	0.126345400529	0.12197	0.0012925768367950364	0.00119	0.00910728076374	0.00827	0.488872587681	0.37282	T	0.014659	0.12435	T	-0.320356	0.06868	T	-0.697946	0.05938	T	0.0134911232719151	0.00247	T	0.641436	0.25361	T	0.15760909	0.35504	0.18477242	0.41550	0.15760909	0.35504	0.18477242	0.41549	-4.834	0.34985	T	.	.	0.236	0.47005	B	.	.	1.124306	0.15103	11.59	0.97942195457814607	0.37035	0.00201	0.01154	N	AEFI	.	.	.	.	.	.	.	.	.	1.20074722546058E-5	0.02871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.137	0.14085	-0.111000	0.10778	-0.986000	0.06696	0.333000	0.19617	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.001732	0.014085	0.001905	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	390.83	23	chrX	8170285	.	G	A	390.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.414;DP=156;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=38.79;MQRankSum=0.216;QD=21.71;ReadPosRankSum=-0.094;SOR=1.493	GT:AD:DP:GQ:PL	0/1:6,12:18:99:401,0,212	5	0	1	0
chrX	10469690	10469690	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1292G:p.Y431C,MID1:NM_001193280:exon6:c.A1178G:p.Y393C,MID1:NM_001193278:exon7:c.A1445G:p.Y482C	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	0.0842	0.246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0089	0.0017	0	0.0014	0.0011	0.0011	0.0013	0.0013	0.0011	5.717e-05	0.0005	0.0003	0	0	0.0014	0.0011	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.611	0.62781	.	.	.	.	.	.	.	0.5160695	0.62373	D	.	.	.	.	.	.	.	0.702451314445	0.69986	.	.	.	.	.	.	.	0.029078	0.20915	T	-0.0458167	0.45080	T	-0.303589	0.44343	T	.	.	.	0.416058	0.10924	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.48469	B	.	.	1.822216	0.23154	15.91	0.93045119261725329	0.22651	0.71697	0.35125	D	AEFBI	.	.	.	.	.	.	.	.	.	0.99999824567079	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.483522	0.39157	5.6	5.6	0.84997	3.630000	0.54014	4.911000	0.45953	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0763:0.0:0.9237	10.887	0.46181	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	170.77	114	chrX	10469690	.	T	C	170.77	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-2.686;DP=529;ExcessHet=0.4139;FS=178.002;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.99;ReadPosRankSum=1.27;SOR=8.015	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:79,21:100:99:.:.:120,0,1813:.	3	0	2	1
chrX	35802719	35802719	C	T	exonic	MAGEB16	.	nonsynonymous SNV	MAGEB16:NM_001099921:exon2:c.C523T:p.P175S,MAGEB16:NM_001370158:exon2:c.C523T:p.P175S,MAGEB16:NM_001370159:exon2:c.C523T:p.P175S	.	442	1064	11	5	0	21	0.00977199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00294249352395	.	0.0010596	0.0007	0	0.0001	0.0002	0	0.0002	0	0.0046	0.000608	94	154602	rs199945481	0.0003	0.0003	0.0002	0.0005	0.0051	0.0003	0.0003	0.0046	0.0044	0	0	0	0	0	0.0012	4.755e-05	0.0002	0.0051	9.928e-05	0.0001	7.717e-05	0.0002	0.0023	5.515e-05	4.281e-05	0.0010	0.0007	0	0	0	0	0.0003	0	0	5.672e-05	0.0007	0.0023	0.384	0.11050	T	0.133	0.34359	T	0.931	0.51899	P	0.859	0.61184	P	0.561402	0.11332	N	0.809643	1	0.08975	N	1.65	0.42232	L	3.59	0.04544	T	-7.28	0.94430	D	0.038	0.01203	-1.0214	0.23259	T	0.027	0.11397	T	10	0.008211166	0.00186	T	0.002942	0.06250	T	0.052	0.14661	0.537	0.64730	0.0611884634855	0.05136	0.131864871008235	0.13111	0.375623031014	0.39023	0.410652697086	0.26547	T	0.143982	0.48037	T	-0.825297	0.00005	T	-0.957167	0.00240	T	0.200339052566014	0.20434	T	0.820618	0.48098	T	0.088441156	0.20631	0.16065016	0.37407	0.088441156	0.20630	0.16065016	0.37406	-4.704	0.33453	T	.	.	0.144	0.33412	B	.;.;.;.;.	.;.;.;.;.	1.658220	0.21151	15.07	0.99028825257333231	0.50742	0.01779	0.05574	N	AEFI	.	.	.	.	.	.	.	.	.	1.17084828437369E-5	0.02871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.13	0.154	0.14196	0.206000	0.17174	-0.090000	0.12069	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2261:0.4176:0.2177:0.1386	1.279	0.01914	924	0.18029	MAGE homology domain|MAGE homology domain;MAGE homology domain|MAGE homology domain;MAGE homology domain|MAGE homology domain;MAGE homology domain|MAGE homology domain;MAGE homology domain|MAGE homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.001376	0.000000	0.000000	0.003953	0.000000	0.000000	0.000000	0.005263	0.08333	1377.83	106	chrX	35802719	.	C	T	1377.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.148;DP=537;ExcessHet=0;FS=0.671;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0.402;SOR=0.794	GT:AD:DP:GQ:PL	0/1:74,52:126:99:1388,0,2194	5	0	1	0
chrX	41474651	41474651	G	A	exonic	NYX	.	nonsynonymous SNV	NYX:NM_022567:exon2:c.G1198A:p.G400S,NYX:NM_001378477:exon3:c.G1198A:p.G400S	Night blindness, congenital stationary (complete), 1A, X-linked, X-linked recessive	.	.	.	.	.	.	.	.	.	.	348731	not_provided|not_specified|Congenital_stationary_night_blindness_1A|NYX-related_disorder	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010690,MedGen:C3495587,OMIM:310500,Orphanet:215|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.060	.	0.0002	0.00609272	0.0033	0.0015	0	0.0345	0	0	0.0036	0	0.0017464	270	154602	rs189924262	0.0004	0.0004	0.0004	0.0003	0.0127	0.0004	0.0004	0.0117	0.0112	0.0001	0	0	0.0127	0	0	0	0.0010	1.913e-05	0.0011	0.0011	0.0010	0.0012	0.0298	0.0009	0.0009	0.0252	0.0234	0.0004	0	0.0002	0	0.0298	0	0	0	0	0	0.421	0.09806	T	0.797	0.04104	T	0.085	0.24868	B	0.01	0.14941	B	0.048868	0.23213	N	0.454427	1	0.08975	N	2.2	0.62015	M	0.32	0.58468	T	-0.11	0.08653	N	0.079	0.05670	-1.0199	0.23747	T	0.058	0.24167	T	10	0.0023649335	0.00035	T	.	.	.	0.060	0.17295	.	.	0.823063812362	0.82139	0.23035802238360467	0.22950	0.799037447193	0.66158	0.432542443275	0.29556	T	0.104053	0.41326	T	-0.560656	0.00251	T	-0.545985	0.17712	T	0.0142812445896037	0.00284	T	0.734027	0.34984	T	0.062191725	0.12963	0.070430085	0.14962	0.067898475	0.14744	0.088149525	0.20536	-1.97	0.03070	T	.	.	0.081	0.08320	B	.;.	.;.	0.723454	0.10925	7.594	0.83558220660084392	0.14792	0.13512	0.17898	N	AEFBI	.	.	.	.	.	.	.	.	.	0.998780605216343	0.37667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.68	4.82	0.61641	1.047000	0.29976	1.783000	0.28733	0.676000	0.76740	0.009000	0.18154	0.966000	0.29516	0.485000	0.28678	0.1772:0.1512:0.512:0.1595	2.146	0.03556	69	0.97055	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	1220.83	33	chrX	41474651	.	G	A	1220.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.33;DP=196;ExcessHet=0;FS=2.195;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.38;ReadPosRankSum=0.496;SOR=1.096	GT:AD:DP:GQ:PL	0/1:24,39:63:99:1231,0,615	5	0	1	0
chrX	49039321	49039321	G	A	exonic	TFE3	.	nonsynonymous SNV	TFE3:NM_001282142:exon3:c.C5T:p.S2L,TFE3:NM_006521:exon3:c.C320T:p.S107L	Renal cell carcinoma, papillary, 1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00633501382377	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1264471344	3.693e-06	3.652e-06	4.101e-06	2.843e-06	3.338e-05	8.6e-07	5.8e-07	9.6e-07	2.7e-07	0	0	0	3.338e-05	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.213	0.26467	T	0.081	0.24602	B	0.006	0.12133	B	0.033198	0.24930	N	0.326142	0.592321	0.32467	D	1.7	0.43825	L	2.36	0.16089	T	-1.73	0.41046	N	0.299	0.33796	-1.0749	0.08369	T	0.033	0.14290	T	10	0.24231541	0.41425	T	0.006335	0.16639	T	0.049	0.13647	0.27	0.21893	0.138757226776	0.13463	0.5193158588637525	0.51854	0.814098478581	0.66863	0.759120702744	0.75799	T	0.589346	0.86673	D	-0.247526	0.14404	T	-0.59333	0.13380	T	0.7932049036026	0.45900	D	0.885811	0.61165	D	0.2122582	0.43572	0.26008326	0.51767	0.2122582	0.43572	0.26008326	0.51766	-3.557	0.17239	T	.	.	0.142	0.31177	B	.	.	4.345984	0.66707	25.0	0.99770152349359653	0.85834	0.95598	0.65363	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999971519615	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.36	4.5	0.54382	3.035000	0.49449	11.610000	0.93539	0.676000	0.76740	0.982000	0.35529	1.000000	0.68203	1.000000	0.97212	0.0948:0.0:0.9052:0.0	10.422	0.43544	36	0.98055	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	84.77	54	chrX	49039321	.	G	A	84.77	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-1.253;DP=284;ExcessHet=0.4139;FS=105.649;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.78;ReadPosRankSum=-0.061;SOR=7.111	GT:AD:DP:GQ:PL	0/1:43,20:63:43:43,0,553	3	0	2	1
chrX	50695789	50695789	C	T	exonic	SHROOM4	.	nonsynonymous SNV	SHROOM4:NM_020717:exon2:c.G266A:p.R89K	.	1	1472	31	18	0	67	0.0222517	.	.	.	209089	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.254	0.0218717520706	0.0014	0.0010596	0.0021	0.0004	0.0014	0	0	0.0019	0.0079	0.0068	0.0019081	295	154602	rs148911180	0.0016	0.0016	0.0015	0.0020	0.0237	0.0016	0.0015	0.0199	0.0185	0.0004	0.0018	0.0103	3.311e-05	7.404e-05	0.0237	0.0010	0.0032	0.0076	0.0012	0.0012	0.0012	0.0011	0.0046	0.0010	0.0010	0.0027	0.0021	0.0003	0	0.0022	0.0106	0.0003	0	0.0095	0.0010	0.0052	0.0046	0.131	0.26629	T	0.481	0.11864	T	1.0	0.90584	D	0.998	0.88582	D	0.024429	0.26263	N	0.266037	0.999927	0.51308	D	0.94	0.23649	L	2.84	0.10674	T	-0.33	0.12472	N	0.127	0.12055	-1.1202	0.02319	T	0.040	0.17277	T	10	0.009545982	0.00215	T	0.021872	0.44695	T	0.254	0.56428	.	.	0.187035705434	0.18338	0.8390109747708314	0.83861	0.416103862279	0.42257	0.640063405037	0.58574	T	0.006684	0.06107	T	-0.54695	0.00304	T	-0.554287	0.16916	T	0.0245678350115657	0.01216	T	0.717928	0.33070	T	0.12738082	0.29809	0.15544306	0.36437	0.17947769	0.39020	0.1804072	0.40837	-1.708	0.02250	T	.	.	0.394	0.59516	A	.;.	.;.	3.269895	0.44751	22.0	0.96192195825031146	0.28994	0.94421	0.61111	D	AEFI	.	.	.	.	.	.	.	.	.	0.999999998138105	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.23	5.23	0.72570	4.565000	0.60552	5.862000	0.50443	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	15.384	0.74406	832	0.38914	PDZ domain|PDZ domain;PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.007591	0.000000	0.003711	0.011858	0.000000	0.000000	0.008850	0.021053	0.08333	444.83	34	chrX	50695789	.	C	T	444.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.99;DP=211;ExcessHet=0;FS=2.511;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.24;ReadPosRankSum=-1.142;SOR=1.201	GT:AD:DP:GQ:PL	0/1:35,19:54:99:455,0,951	5	0	1	0
chrX	54446384	54446384	T	G	exonic	FGD1	.	nonsynonymous SNV	FGD1:NM_004463:exon18:c.A2611C:p.I871L	Aarskog-Scott syndrome, X-linked recessive;Mental retardation, X-linked syndromic 16, X-linked recessive	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.245935600442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.025	0.19245	B	0.023	0.19966	B	0.000041	0.55875	D	0.000000	0.962453	0.38291	D	-0.025	0.05070	N	-0.87	0.74583	T	-0.21	0.10308	N	0.206	0.22870	-0.8539	0.51696	T	0.136	0.45241	T	10	0.32538897	0.49850	T	0.245936	0.88907	D	0.272	0.58758	0.45	0.51121	0.831963082511	0.83036	0.6687150575492907	0.66809	1.49629646265	0.86967	0.778284311295	0.78669	T	0.178952	0.52978	T	-0.0568963	0.43390	T	-0.319504	0.42630	T	0.786649465560913	0.45471	D	0.748325	0.36895	T	0.29291824	0.52263	0.1955083	0.43232	0.29291824	0.52263	0.1955083	0.43231	-3.058	0.10820	T	0.15018022906730952	0.17621	0.520	0.65502	A	.	.	2.669617	0.34803	19.73	0.88690503620606775	0.18177	0.71695	0.35124	D	AEFDBHCIJ	.	.	.	.	.	.	.	.	.	0.999995621728155	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.79	5.79	0.91751	3.528000	0.53279	7.793000	0.68941	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	13.951	0.63628	416	0.81733	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|FGD1-4, C-terminal PH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	486.83	36	chrX	54446384	.	T	G	486.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.925;DP=195;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-0.558;SOR=0.833	GT:AD:DP:GQ:PL	0/1:24,21:45:99:497,0,549	5	0	1	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X,FAM104B:NM_001166701:exon3:c.C328T:p.R110X,FAM104B:NM_001166702:exon3:c.C319T:p.R107X,FAM104B:NM_001166703:exon3:c.C325T:p.R109X	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0042	0	0	0.0002	7.025e-05	0	0.0001	0.0310669	4803	154602	rs1047054	7.297e-06	9.106e-06	9.533e-06	2.762e-06	3.791e-05	3.14e-06	2.27e-06	6.14e-06	2.3e-06	3.791e-05	0	0	0	0	0	5.942e-06	0	3.701e-05	1.802e-05	1.746e-05	1.286e-05	3.013e-05	0.0004	2.99e-06	1.12e-06	.	.	3.282e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984587	0.24787	N	.	.	.	.	.	.	.	.	.	0.121	0.18512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334032	0.85436	D	0.242037	0.85245	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.503254	0.70449	25.5	0.92570320911590998	0.22025	0.23489	0.22092	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986651300857	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.637	0.16907	1.269000	0.32677	-0.938000	0.06858	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.291000	0.24285	0.0:0.0:0.6198:0.3802	4.504	0.11285	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.069015	0.068027	0.074212	0.055556	0.000000	0.094118	0.048673	0.068421	0.5	65345.6	579	chrX	55146104	.	G	A	65345.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.82;DP=2997;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.62;ReadPosRankSum=0.944;SOR=0.738	GT:AD:DP:GQ:PL	0/1:97,353:450:99:9614,0,1513	0	0	6	0
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N,FAM104B:NM_001166700:exon3:c.G223A:p.D75N,FAM104B:NM_001166701:exon3:c.G220A:p.D74N,FAM104B:NM_001166702:exon3:c.G211A:p.D71N,FAM104B:NM_001166703:exon3:c.G217A:p.D73N,FAM104B:NM_138362:exon3:c.G220A:p.D74N	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00302221843962	.	0.0013245	0.0001	0.0014	0	0	0	2.118e-05	0	0	0.0081067	211	26028	rs1047042	4.61e-06	4.563e-06	5.457e-06	2.843e-06	3.873e-05	1.35e-06	9.8e-07	6.25e-06	2.34e-06	3.873e-05	0	5.196e-05	0	0	0	1.202e-06	0	3.766e-05	9.039e-06	8.741e-06	1.287e-05	0	9.612e-05	0	0	.	.	0	0	9.612e-05	0	0	0	0	0	0	0	0.675	0.04495	T	1.0	0.06345	T	0.003	0.11197	B	0.0	0.04355	B	0.171170	0.17370	N	0.505297	1	0.08975	P	-0.49	0.02651	N	1.04	0.40218	T	0.87	0.01688	N	0.132	0.13626	-1.0454	0.15709	T	0.035	0.15160	T	9	0.0060353875	0.00136	T	0.003022	0.06487	T	0.012	0.01476	0.247	0.18293	0.0806252709748	0.07271	0.0651596601341745	0.06454	0.0775316632676	0.08717	0.25642067194	0.04473	T	0.008956	0.08187	T	-0.596363	0.00153	T	-1.09441	0.00031	T	0.0048729239977625	0.00052	T	0.519848	0.16911	T	0.03745953	0.04805	0.041539483	0.04745	0.03745953	0.04805	0.041539483	0.04745	-3.393	0.14963	T	.	.	0.058	0.00614	B	.;.;.;.;.	.;.;.;.;.	-0.711233	0.01295	0.069	0.1342819324597182	0.00264	0.00118	0.00744	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988775956904	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.04	0.09555	0.059000	0.14199	-2.996000	0.03156	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.4679:0.0:0.5321	4.225	0.10030	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	53661.6	433	chrX	55146212	.	C	T	53661.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.92;DP=2327;ExcessHet=11.5949;FS=3.075;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.65;ReadPosRankSum=1.95;SOR=0.466	GT:AD:DP:GQ:PL	0/1:72,259:338:99:7807,0,1334	0	0	6	0
chrX	55146226	55146226	A	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.T209C:p.I70T,FAM104B:NM_001166700:exon3:c.T209C:p.I70T,FAM104B:NM_001166701:exon3:c.T206C:p.I69T,FAM104B:NM_001166702:exon3:c.T197C:p.I66T,FAM104B:NM_001166703:exon3:c.T203C:p.I68T,FAM104B:NM_138362:exon3:c.T206C:p.I69T	.	377	953	191	1	0	193	0.0919485	.	.	.	2292730	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.00406903138937	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs5018687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.10378	T	0.268	0.22694	T	0.393	0.34680	B	0.291	0.53365	B	0.039374	0.24178	N	0.273281	1	0.08975	N	0.64	0.16041	N	0.95	0.43279	T	-0.72	0.25332	N	0.2	0.23506	-0.9521	0.40608	T	0.090	0.34463	T	10	0.055033892	0.05951	T	0.004069	0.09712	T	0.021	0.04004	.	.	0.141422826196	0.13715	0.06275098226723172	0.06214	0.248494845932	0.27412	0.330263495445	0.14974	T	0.020098	0.15887	T	-0.449697	0.01134	T	-0.883735	0.00624	T	0.0690480346428045	0.08518	T	0.637636	0.25136	T	0.03846359	0.05127	0.06403163	0.12771	0.03846359	0.05127	0.06403163	0.12771	-2.966	0.10052	T	.	.	0.086	0.10787	B	.;.;.;.;.	.;.;.;.;.	-0.138938	0.03417	0.621	0.94453687128581543	0.24887	0.00870	0.03447	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988350960953	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-0.877	0.10083	-0.230000	0.09093	-3.501000	0.02739	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.713000	0.34548	0.5262:0.0:0.4738:0.0	4.189	0.09871	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	948.83	287	chrX	55146226	.	A	G	948.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.802;DP=1695;ExcessHet=0;FS=8.086;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=3.09;ReadPosRankSum=0.567;SOR=0.989	GT:AD:DP:GQ:PL	0/1:245,62:307:99:959,0,7733	5	0	1	0
chrX	55146254	55146254	T	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A181G:p.S61G,FAM104B:NM_001166700:exon3:c.A181G:p.S61G,FAM104B:NM_001166701:exon3:c.A178G:p.S60G,FAM104B:NM_001166702:exon3:c.A169G:p.S57G,FAM104B:NM_001166703:exon3:c.A175G:p.S59G,FAM104B:NM_138362:exon3:c.A178G:p.S60G	.	431	15	1050	26	0	1102	0.973498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0041360361776	.	.	0	0	0	0	0	0	0	0	0.0095666	249	26028	rs1047037	9.142e-07	4.651e-05	1.362e-06	0	1.191e-06	0	0	.	.	0	0	0	0	0	0	1.191e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.115	0.36630	T	0.18	0.29046	B	0.013	0.26930	B	0.022656	0.26593	N	0.266251	1	0.08975	N	1.125	0.28843	L	0.62	0.53302	T	-3.25	0.65972	D	0.165	0.17691	-1.0460	0.15534	T	0.083	0.32556	T	10	0.08577216	0.14513	T	0.004136	0.09900	T	0.075	0.21907	0.066	0.00312	0.141422826196	0.13715	0.08695167493373998	0.08629	0.0811463258042	0.09130	0.299347400665	0.10303	T	0.051814	0.28986	T	-0.403148	0.02207	T	-0.816871	0.01517	T	0.062755441338216	0.07595	T	0.529347	0.19916	T	0.15294263	0.34692	0.18436645	0.41484	0.15294263	0.34692	0.18436645	0.41484	-4.147	0.26024	T	.	.	0.074	0.04932	B	.;.;.;.;.	.;.;.;.;.	0.505601	0.08746	5.521	0.88816084291515585	0.18278	0.01111	0.04064	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999988486351367	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-0.917	0.09952	0.342000	0.19669	0.018000	0.13546	0.587000	0.30956	0.001000	0.13787	0.000000	0.08366	0.925000	0.46118	0.0:0.4736:0.0:0.5264	4.198	0.09911	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	24838.6	282	chrX	55146254	.	T	C	24838.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.631;DP=1584;ExcessHet=11.5949;FS=4.096;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.91;ReadPosRankSum=-0.626;SOR=0.461	GT:AD:DP:GQ:PL	0/1:67,176:243:99:5514,0,1429	0	0	6	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L,FAM104B:NM_001166700:exon3:c.A160C:p.I54L,FAM104B:NM_001166701:exon3:c.A157C:p.I53L,FAM104B:NM_001166702:exon3:c.A148C:p.I50L,FAM104B:NM_001166703:exon3:c.A154C:p.I52L,FAM104B:NM_138362:exon3:c.A157C:p.I53L	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0118030854457	.	.	1.142e-05	0	0	0	0	2.088e-05	0	0	0.0196828	3043	154602	rs1047034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.051	0.47828	T	0.105	0.26966	B	0.068	0.39904	B	0.152569	0.17919	U	0.451659	1	0.08975	N	1.955	0.52871	M	0.27	0.59176	T	-1.83	0.45042	N	0.551	0.57690	-0.8632	0.51032	T	0.155	0.48687	T	10	0.1871016	0.34206	T	0.011803	0.29782	T	0.098	0.28162	0.189	0.09907	0.0884992946249	0.08302	0.12338101866159702	0.12264	0.0928677804986	0.10486	0.449103206396	0.31821	T	0.163737	0.50891	T	-0.214808	0.18708	T	-0.546333	0.17678	T	0.224603921175003	0.21691	T	0.758424	0.38228	T	0.50850886	0.67592	0.29124478	0.55149	0.50850886	0.67593	0.29124478	0.55148	-2.996	0.10138	T	.	.	0.123	0.25689	B	.;.;.;.;.	.;.;.;.;.	1.130701	0.15173	11.64	0.8192711395344332	0.13930	0.34538	0.25091	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999989777015944	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.26	0.08892	0.742000	0.25884	-6.329000	0.01429	-0.214000	0.08267	1.000000	0.71638	0.000000	0.08366	0.065000	0.16320	0.0:0.5197:0.0:0.4803	4.529	0.11402	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.000688	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.5	25538.6	211	chrX	55146275	.	T	G	25538.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.452;DP=1243;ExcessHet=11.5949;FS=13.632;MLEAC=6;MLEAF=0.5;MQ=59.99;MQRankSum=0;QD=22.82;ReadPosRankSum=-3.49;SOR=0.389	GT:AD:DP:GQ:PL	0/1:54,134:188:99:4234,0,1127	0	0	6	0
chrX	55146283	55146283	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G152A:p.S51N,FAM104B:NM_001166700:exon3:c.G152A:p.S51N,FAM104B:NM_001166701:exon3:c.G149A:p.S50N,FAM104B:NM_001166702:exon3:c.G140A:p.S47N,FAM104B:NM_001166703:exon3:c.G146A:p.S49N,FAM104B:NM_138362:exon3:c.G149A:p.S50N	.	397	623	499	3	0	505	0.288407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0110921071969	.	.	.	.	.	.	.	.	.	.	0.0152528	397	26028	rs5018688	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.59928	D	0.093	0.43913	T	0.393	0.56973	B	0.383	0.56425	B	0.059846	0.22293	U	0.378995	1	0.08975	N	1.89	0.50145	L	0.58	0.54149	T	-1.28	0.38924	N	0.403	0.45237	-0.9915	0.32218	T	0.137	0.45260	T	10	0.1055212	0.19508	T	0.011092	0.28353	T	0.056	0.15993	0.195	0.10705	0.117506650769	0.11410	0.13308873038305813	0.13232	0.421847818605	0.42694	0.421121031046	0.27990	T	0.02108	0.16480	T	-0.332179	0.05948	T	-0.714929	0.05044	T	0.244155928492546	0.22609	T	0.533147	0.22079	T	0.27807146	0.50863	0.22633299	0.47608	0.27807146	0.50863	0.22633299	0.47607	-4.287	0.28968	T	.	.	0.120	0.24733	B	.;.;.;.;.	.;.;.;.;.	0.299513	0.06751	3.267	0.94323433060273598	0.24650	0.08620	0.14524	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986223079379	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.279	0.14929	0.332000	0.19494	-0.521000	0.08690	0.530000	0.24713	0.996000	0.39380	0.000000	0.08366	0.128000	0.19490	0.5333:0.4667:0.0:0.0	4.875	0.13009	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	2587.96	178	chrX	55146283	.	C	T	2587.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.931;DP=1031;ExcessHet=3.1439;FS=3.064;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=4.1;ReadPosRankSum=-1.88;SOR=0.618	GT:AD:DP:GQ:PL	0/1:131,34:165:99:584,0,4374	2	0	4	0
chrX	57592664	57592664	G	A	exonic	ZXDB	.	nonsynonymous SNV	ZXDB:NM_007157:exon1:c.G616A:p.G206R	.	432	1055	35	0	0	35	0.016317	.	.	.	3351554	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.014	0.00644329845832	.	.	0.0014	0.0004	0.0013	0.0024	0.0011	0.0014	0.0062	0.0020	0.0001921	5	26028	rs747364155	0.0006	0.0018	0.0006	0.0006	0.0015	0.0006	0.0006	0.0011	0.0010	0.0004	0.0015	0.0046	0.0011	0.0002	0.0015	0.0005	0.0008	0.0011	0.0004	0.0017	0.0004	0.0004	0.0022	0.0003	0.0003	0.0010	0.0007	9.791e-05	0.0015	0	0.0037	0.0022	0.0003	0	0.0004	0.0007	0	0.47	0.08483	T	0.187	0.28764	T	0.001	0.07471	B	0.001	0.04355	B	0.011697	0.29437	N	0.160870	1	0.08975	N	0.69	0.16971	N	2.81	0.10975	T	-0.91	0.24460	N	0.028	0.00618	-0.9489	0.41160	T	0.012	0.04700	T	10	0.012963623	0.00276	T	0.006443	0.16956	T	0.014	0.01968	0.256	0.19689	0.043077524339	0.03247	0.18998404845993977	0.18916	1.24468813859	0.81636	0.759609699249	0.75871	T	0.028547	0.20653	T	-0.531361	0.00377	T	-1.00104	0.00137	T	0.00039367558201775	0.00003	T	0.377662	0.09049	T	0.067176715	0.14523	0.076588094	0.16976	0.067176715	0.14523	0.076588094	0.16976	-5.085	0.37748	T	.	.	0.108	0.20430	B	.	.	0.033570	0.04519	1.218	0.79293539811230451	0.12676	0.03073	0.07985	N	ALL	.	.	.	.	.	.	.	.	.	0.999999745769581	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.65	1.78	0.23918	-0.187000	0.09652	-1.834000	0.04642	-0.288000	0.06323	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.3435:0.0:0.6565:0.0	4.304	0.10382	434	0.80536	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.045039	0.041096	0.044527	0.051383	0.142857	0.047059	0.035714	0.036842	0.08333	33.83	45	chrX	57592664	.	G	A	33.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.98;DP=320;ExcessHet=0;FS=18.412;MLEAC=1;MLEAF=0.083;MQ=55.82;MQRankSum=-6.294;QD=0.29;ReadPosRankSum=-3.142;SOR=3.854	GT:AD:DP:GQ:PL	0/1:108,10:118:44:44,0,3057	5	0	1	0
chrX	57910186	57910186	G	C	exonic	ZXDA	.	nonsynonymous SNV	ZXDA:NM_007156:exon1:c.C235G:p.H79D	.	427	1093	1	1	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.000667446444109	0.0001	0.00238411	0.0012	0.0017	0.0022	0.0013	0	0.0007	0.0024	0.0028	0.0010026	155	154602	rs151072020	0.0010	0.0011	0.0010	0.0011	0.0029	0.0010	0.0010	0.0025	0.0024	0.0020	0.0019	5.212e-05	0.0003	2.761e-05	0.0028	0.0009	0.0014	0.0029	0.0008	0.0009	0.0009	0.0008	0.0022	0.0007	0.0006	0.0013	0.0011	0.0016	0	0.0010	0	0.0003	0	0	0.0004	0.0013	0.0022	1.0	0.00964	T	0.66	0.06511	T	0.0	0.02946	B	0.0	0.01387	B	0.791822	0.09391	N	0.883731	1	0.08975	N	-2.24	0.00112	N	2.18	0.18875	T	0.62	0.02442	N	0.028	0.00618	-0.9647	0.38270	T	0.012	0.04653	T	9	0.0042077005	0.00084	T	6.67E-4	0.00383	T	0.041	0.10877	.	.	0.408172294925	0.40431	0.07234410521092363	0.07171	0.864492229153	0.69148	0.849402487278	0.89524	D	0.003572	0.02980	T	-0.896413	0.00000	T	-1.06596	0.00051	T	0.00734522265928516	0.00084	T	0.175982	0.01702	T	0.043308835	0.06725	0.061772823	0.11982	0.043308835	0.06725	0.061772823	0.11982	-2.674	0.07087	T	.	.	0.052	0.00207	B	.	.	-0.412555	0.02166	0.211	0.46594618899068529	0.03744	0.00665	0.02874	N	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999999744830833	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.97	0.144	0.14120	-0.238000	0.08995	-0.221000	0.10763	-1.123000	0.01469	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1995:0.3486:0.1943:0.2576	0.469	0.00493	434	0.80536	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.005583	0.007246	0.009294	0.000000	0.000000	0.000000	0.000000	0.010526	0.08333	2145.83	43	chrX	57910186	.	G	C	2145.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.538;DP=274;ExcessHet=0;FS=4.239;MLEAC=1;MLEAF=0.083;MQ=59.23;MQRankSum=-1.814;QD=23.84;ReadPosRankSum=1.28;SOR=0.362	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,55:90:99:0|1:57910186_G_C:2156,0,1256:57910186	5	0	1	0
chrX	57910189	57910189	G	T	exonic	ZXDA	.	nonsynonymous SNV	ZXDA:NM_007156:exon1:c.C232A:p.P78T	.	428	1092	1	1	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00308391317375	0.0003	0.00238411	0.0012	0.0018	0.0022	0.0011	0	0.0006	0.0024	0.0028	0.001022	158	154602	rs139794208	0.0010	0.0011	0.0010	0.0011	0.0029	0.0010	0.0010	0.0025	0.0024	0.0021	0.0018	5.216e-05	0.0003	2.776e-05	0.0028	0.0009	0.0014	0.0029	0.0008	0.0009	0.0009	0.0008	0.0022	0.0007	0.0007	0.0013	0.0012	0.0016	0	0.0011	0	0	0	0	0.0004	0.0020	0.0022	0.086	0.32610	T	0.182	0.29249	T	0.19	0.29379	B	0.055	0.25995	B	0.716006	0.09975	N	0.841168	1	0.08975	N	2.075	0.57047	M	2.31	0.16794	T	-0.36	0.13035	N	0.017	0.00226	-0.9820	0.34538	T	0.030	0.12717	T	9	0.0031093955	0.00052	T	0.003084	0.06666	T	0.006	0.00375	.	.	0.561599553422	0.55821	0.08546850697997276	0.08480	0.757983570904	0.64101	0.8126937747	0.83906	D	0.00372	0.03130	T	-0.746521	0.00019	T	-0.85065	0.00951	T	0.00332402600560495	0.00035	T	0.368163	0.08622	T	0.050990686	0.09298	0.07404347	0.16156	0.050990686	0.09297	0.07404347	0.16156	-4.84	0.35053	T	.	.	0.079	0.07412	B	.	.	1.433961	0.18528	13.78	0.87425387332635029	0.17218	0.04348	0.09914	N	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999999814692377	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.97	1.16	0.19936	0.344000	0.19703	1.429000	0.26431	0.554000	0.28208	0.015000	0.19116	0.921000	0.28324	0.034000	0.13613	0.2747:0.0:0.7253:0.0	6.466	0.21184	434	0.80536	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.006978	0.007246	0.009294	0.000000	0.000000	0.012048	0.004545	0.010526	0.08333	2089.83	43	chrX	57910189	.	G	T	2089.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.461;DP=266;ExcessHet=0;FS=4.25;MLEAC=1;MLEAF=0.083;MQ=59.31;MQRankSum=-1.642;QD=23.75;ReadPosRankSum=1.39;SOR=0.369	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,53:88:99:0|1:57910186_G_C:2100,0,1262:57910186	5	0	1	0
chrX	69162533	69162533	C	A	exonic	PJA1	.	nonsynonymous SNV	PJA1:NM_001032396:exon2:c.G541T:p.A181S,PJA1:NM_001382775:exon2:c.G706T:p.A236S,PJA1:NM_001382776:exon2:c.G541T:p.A181S,PJA1:NM_145119:exon2:c.G706T:p.A236S	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00761410109258	.	.	0.0001	0	0.0001	0	0	0.0001	0	0.0004	0.0001164	18	154602	rs202024332	3.369e-05	3.369e-05	2.042e-05	6.051e-05	0.0004	2.486e-05	2.17e-05	0.0003	0.0002	0	0	0	0	0	0	1.662e-05	4.339e-05	0.0004	3.585e-05	3.482e-05	2.57e-05	5.928e-05	0.0004	1.137e-05	6.64e-06	1.498e-05	8.15e-06	0	0	0	0	0	0	0	5.645e-05	0	0.0004	0.094	0.32296	T	0.793	0.09555	T	0.319	0.32965	B	0.046	0.24676	B	0.422698	0.12849	U	0.625044	1	0.81001	D	2.47	0.71715	M	3.46	0.05249	T	-0.35	0.14000	N	0.081	0.16168	-1.0036	0.28874	T	0.014	0.05753	T	10	0.06730485	0.09359	T	0.007614	0.20192	T	0.043	0.11576	0.201	0.11522	0.498049835205	0.49439	0.04394102989655777	0.04338	0.403325221756	0.41274	0.456587553024	0.32844	T	0.051155	0.28800	T	-0.603536	0.00139	T	-0.750681	0.03459	T	0.0437224054497274	0.04370	T	0.675632	0.28413	T	0.077634536	0.17633	0.0951296	0.22547	0.077634536	0.17632	0.0951296	0.22547	-2.311	0.05857	T	.	.	0.091	0.18746	B	.;.;.	.;.;.	2.453956	0.31600	18.79	0.92632837891424669	0.22105	0.75315	0.36870	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.998444446170326	0.36977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.19	3.19	0.35720	2.297000	0.43254	2.527000	0.33149	-0.342000	0.05666	1.000000	0.71638	1.000000	0.68203	0.936000	0.47498	0.0:0.8499:0.0:0.1501	5.715	0.17223	654	0.62520	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1821.83	39	chrX	69162533	.	C	A	1821.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.11;DP=348;ExcessHet=0;FS=2.931;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-0.294;SOR=0.496	GT:AD:DP:GQ:PL	0/1:71,73:144:99:1832,0,2040	5	0	1	0
chrX	69505344	69505344	G	A	exonic	FAM155B	.	nonsynonymous SNV	FAM155B:NM_015686:exon1:c.G62A:p.C21Y	.	413	1106	2	1	0	4	0.00180505	.	.	.	3987198	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.145	0.461500007187	.	.	0.0002	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs773571962	0.0001	0.0001	8.936e-05	0.0001	0.0008	8.941e-05	8.319e-05	0.0006	0.0005	0	0	0	0	0	0.0007	8.346e-05	4.546e-05	0.0008	8.125e-05	7.839e-05	7.754e-05	8.985e-05	0.0007	4.214e-05	3.16e-05	0.0001	5.497e-05	0	0	0	0	0	0	0	0.0001	0	0.0007	0.002	0.72154	D	0.0	0.92824	D	0.994	0.66517	D	0.967	0.71530	D	.	.	.	.	0.987061	0.24555	N	0.895	0.22405	L	0.59	0.53943	T	-1.37	0.33998	N	0.116	0.10483	-0.9775	0.35571	T	0.170	0.51085	T	9	0.10705167	0.19867	T	0.462	0.94521	D	0.145	0.38592	0.391	0.41443	0.176862962021	0.17281	0.44530073501794765	0.44448	1.15342620932	0.79294	0.950813889503	0.99768	D	.	.	.	-0.427123	0.01543	T	-0.442657	0.28511	T	0.159135107448129	0.17807	T	0.543046	0.18512	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.44758	B	.	.	4.063378	0.60319	24.2	0.99001602699247782	0.50168	0.71891	0.35211	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999988890902065	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.92	2.97	0.33479	1.624000	0.36629	7.439000	0.58857	0.554000	0.28208	0.993000	0.37899	1.000000	0.68203	0.998000	0.85391	0.0:0.2466:0.7534:0.0	8.023	0.29582	30	0.98208	.	.	.	.	.	.	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	0.002540	0.000000	0.002336	0.004425	0.000000	0.000000	0.000000	0.006757	0.08333	539.83	33	chrX	69505344	.	G	A	539.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.07;DP=246;ExcessHet=0;FS=0.971;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9;ReadPosRankSum=-1.559;SOR=0.846	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,26:60:99:1|0:69505335_TCTG_T:550,0,854:69505335	5	0	1	0
chrX	85305874	85305874	T	C	exonic	POF1B	.	nonsynonymous SNV	POF1B:NM_001307940:exon13:c.A1354G:p.K452E,POF1B:NM_024921:exon13:c.A1354G:p.K452E	Premature ovarian failure 2B	3	1518	1	0	0	1	0.000329272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.0678481111897	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1028934406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.959e-06	8.703e-06	1.286e-05	0	3.25e-05	0	0	.	.	3.25e-05	0	0	0	0	0	0	0	0	0	0.014	0.53172	D	0.026	0.56192	D	0.998	0.73220	D	0.946	0.68276	D	0.000000	0.84330	D	0.044514	0.981085	0.39737	D	1.795	0.47270	L	2.57	0.13552	T	-1.62	0.41809	N	0.429	0.46835	-1.0877	0.05925	T	0.083	0.32585	T	10	0.39383045	0.55082	T	0.067848	0.70285	D	0.115	0.32236	0.177	0.08379	0.469165163779	0.46546	0.33074967611215494	0.32987	0.527645820895	0.50370	0.66389465332	0.61966	T	0.41326	0.76718	T	-0.0622888	0.42547	T	-0.32725	0.41774	T	0.929773926734924	0.59405	D	0.730727	0.34650	T	0.64149255	0.74910	0.57708025	0.75495	0.64149255	0.74912	0.57708025	0.75496	-3.495	0.16361	T	.	.	0.348	0.56436	A	.;.	.;.	3.471363	0.48428	22.6	0.99852095696660281	0.93102	0.94944	0.62875	D	AEGI	.	.	.	.	.	.	.	.	.	0.636203819464781	0.22012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.69	5.69	0.88346	3.723000	0.54682	7.709000	0.66702	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	13.833	0.62885	877	0.30165	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1066.83	33	chrX	85305874	.	T	C	1066.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.88;DP=268;ExcessHet=0;FS=4.198;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=0.38;SOR=1.193	GT:AD:DP:GQ:PL	0/1:48,39:87:99:1077,0,1075	5	0	1	0
chrX	108733686	108733686	T	C	exonic	IRS4	.	nonsynonymous SNV	IRS4:NM_001379150:exon1:c.A2659G:p.K887E,IRS4:NM_003604:exon1:c.A2659G:p.K887E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00535564002164	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.732e-06	2.732e-06	0	8.251e-06	3.562e-06	7.3e-07	2e-07	9.5e-07	2.6e-07	0	0	0	0	0	0	3.562e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.125	0.35330	T	0.0	0.02946	B	0.001	0.04355	B	0.138191	0.18386	N	0.537042	0.999058	0.21670	N	1.4	0.35362	L	1.32	0.35219	T	-0.95	0.25332	N	0.088	0.06587	-1.0301	0.20422	T	0.068	0.27743	T	10	0.049285114	0.04496	T	0.005356	0.13710	T	0.024	0.04979	0.346	0.34112	0.0934897674506	0.08844	0.17192719265096076	0.17112	0.692044918232	0.60635	0.294981390238	0.09655	T	0.276541	0.64913	T	-0.409962	0.01989	T	-0.826658	0.01323	T	0.0584618784487247	0.06924	T	0.306769	0.05902	T	0.18273875	0.39508	0.12348185	0.29775	0.18273875	0.39508	0.12348185	0.29774	-4.004	0.23864	T	.	.	0.103	0.18289	B	.	.	0.738077	0.11073	7.725	0.98068107871361898	0.38007	0.22295	0.21698	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999952012899906	0.48110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.2	-1.4	0.08499	0.128000	0.15636	0.248000	0.16392	-1.541000	0.00979	0.055000	0.21596	0.698000	0.26216	0.023000	0.12082	0.1181:0.2134:0.1198:0.5488	2.161	0.03591	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1372.83	37	chrX	108733686	.	T	C	1372.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.186;DP=255;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.3;ReadPosRankSum=-0.738;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,38:75:99:0|1:108733686_T_C:1383,0,1373:108733686	5	0	1	0
chrX	109409169	109409169	C	G	splicing	GUCY2F	NM_001522:exon9:c.1792-1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36807	0.87886	D	0.29093	0.87731	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.213041	0.63670	24.6	0.99474592219775226	0.66525	0.99496	0.96736	D	AEFI	.	.	.	.	.	.	.	.	.	0.999918598691818	0.45857	.	.	.	.	.	.	.	.	.	.	.	.	0.976215	0.79390	4.04	4.04	0.46262	7.671000	0.82936	2.671000	0.33948	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.857000	0.40602	0.0:1.0:0.0:0.0	13.137	0.58835	410	0.82135	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	2178.83	34	chrX	109409169	.	C	G	2178.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.227;DP=344;ExcessHet=0;FS=2.789;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=-0.513;SOR=0.949	GT:AD:DP:GQ:PL	0/1:78,87:165:99:2189,0,2048	5	0	1	0
chrX	135580144	135580144	G	C	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon15:c.G2365C:p.V789L,INTS6L:NM_001351604:exon15:c.G2233C:p.V745L,INTS6L:NM_001351605:exon15:c.G2233C:p.V745L,INTS6L:NM_001351606:exon15:c.G1639C:p.V547L,INTS6L:NM_182540:exon15:c.G2365C:p.V789L,INTS6L:NM_001351601:exon16:c.G2476C:p.V826L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.320721839563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33254	T	0.144	0.33109	T	0.054	0.22658	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	0.998439	0.44913	D	.	.	.	1.12	0.38718	T	-1.47	0.35991	N	0.585	0.60579	-0.8446	0.52338	T	0.185	0.53376	T	10	0.3336386	0.50551	T	0.320722	0.91466	D	0.116	0.32463	0.358	0.36060	0.707954595072	0.70541	0.7275652152813423	0.72700	1.18866698664	0.80215	0.648726463318	0.59806	T	0.054	0.29627	T	0.00945918	0.52950	T	-0.224189	0.52332	T	0.882806301116943	0.53294	D	0.539346	0.18229	T	0.6511502	0.75426	0.50532985	0.71408	0.6511502	0.75427	0.50532985	0.71409	-8.677	0.65596	D	.	.	0.978	0.90664	P	.;.	.;.	3.376911	0.46690	22.3	0.98498159316290479	0.42180	0.97707	0.76556	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999042486774	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.88	4.88	0.63131	4.677000	0.61324	5.234000	0.48040	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.741	0.85319	91	0.96221	INTS6/SAGE1/DDX26B/CT45, C-terminal;INTS6/SAGE1/DDX26B/CT45, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	64.5	77	chrX	135580144	.	G	C	64.5	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.534;DP=278;ExcessHet=3.1439;FS=273.052;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.33;ReadPosRankSum=0.229;SOR=9.327	GT:AD:DP:GQ:PL	0/1:27,15:48:32:32,0,395	2	0	4	0
chrX	148962804	148962804	G	A	exonic	AFF2	.	nonsynonymous SNV	AFF2:NM_001170628:exon10:c.G1703A:p.R568H,AFF2:NM_001169122:exon12:c.G2681A:p.R894H,AFF2:NM_001169124:exon12:c.G2675A:p.R892H,AFF2:NM_001169125:exon12:c.G2663A:p.R888H,AFF2:NM_001169123:exon13:c.G2750A:p.R917H,AFF2:NM_002025:exon13:c.G2780A:p.R927H	Mental retardation, X-linked, FRAXE type, X-linked recessive	7	1488	19	8	0	35	0.011624	.	.	.	191365	not_specified|FRAXE|not_provided|AFF2-related_disorder	MedGen:CN169374|MONDO:MONDO:0010659,MedGen:C0751157,OMIM:309548,Orphanet:100973|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.290	0.788945586857	0.0006	0.000794702	0.0015	0.0001	0.0007	0	0	0.0015	0.0080	0.0051	0.0013777	213	154602	rs140927355	0.0010	0.0010	0.0009	0.0013	0.0054	0.0010	0.0010	0.0049	0.0047	0.0004	0.0006	0.0171	3.313e-05	0	0.0022	0.0004	0.0018	0.0054	0.0008	0.0008	0.0008	0.0008	0.0034	0.0007	0.0006	0.0018	0.0013	3.244e-05	0	0.0003	0.0170	0	0	0	0.0006	0.0013	0.0034	0.003	0.72154	D	0.228	0.35840	T	1.0	0.90584	D	0.999	0.92359	D	0.001805	0.37945	N	0.251509	0.999985	0.54805	D	2.14	0.59869	M	-0.1	0.64264	T	0.13	0.05503	N	0.059	0.31925	-0.1835	0.78092	T	0.434	0.77452	T	10	0.0070457757	0.00160	T	0.788946	0.98342	D	0.290	0.60924	.	.	0.931681299323	0.93097	0.3173714879489815	0.31650	0.646509102496	0.58061	0.417903870344	0.27549	T	0.406954	0.76270	T	-0.0729265	0.40859	T	0.123148	0.78444	D	0.0418868720804479	0.04033	T	0.868913	0.57225	D	0.18802847	0.40283	0.18903407	0.42227	0.15770656	0.35520	0.20170383	0.44162	-3.437	0.18466	T	.	.	0.115	0.32565	B	.;.;.;.	.;.;.;.	3.581396	0.50496	23.0	0.99937657744518793	0.99661	0.93683	0.58894	D	AEFGI	.	.	.	.	.	.	.	.	.	0.99999999828898	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.87	5.87	0.94266	3.614000	0.53901	4.259000	0.42796	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	18.241	0.89904	877	0.30165	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.005533	0.006803	0.005566	0.003953	0.000000	0.000000	0.004444	0.010526	0.08333	983.83	35	chrX	148962804	.	G	A	983.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.624;DP=268;ExcessHet=0;FS=4.073;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=1.75;SOR=0.357	GT:AD:DP:GQ:PL	0/1:44,47:91:99:994,0,1017	5	0	1	0
chrX	152766771	152766771	T	C	exonic	MAGEA6	.	nonsynonymous SNV	MAGEA6:NM_005363:exon3:c.A880G:p.S294G,MAGEA6:NM_175868:exon3:c.A880G:p.S294G	.	437	1054	22	9	0	40	0.018622	.	.	.	3500825	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.020	0.000939796218196	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs149795670	0.0002	0.0002	0.0001	0.0002	0.0094	0.0001	0.0001	0.0071	0.0063	0	5.684e-05	0.0004	0	0	0.0094	6.656e-05	0.0006	0.0009	0.0001	0.0001	0.0001	0.0001	0.0008	6.876e-05	5.385e-05	0.0001	6.549e-05	3.252e-05	0	0	0.0004	0	0	0	0.0002	0	0.0008	0.154	0.24277	T	0.09	0.40267	T	.	.	.	.	.	.	0.084434	0.02389	N	1.866700	1	0.08975	N	.	.	.	4.68	0.01715	T	-1.92	0.44657	N	0.091	0.06990	-0.9114	0.46682	T	0.008	0.02884	T	10	0.099959314	0.18175	T	9.4E-4	0.00934	T	.	.	0.363	0.36874	0.530606565545	0.52708	0.2508074439492044	0.24994	.	.	0.471705913544	0.34914	T	0.010616	0.09570	T	-0.425724	0.01574	T	-0.8493	0.00968	T	0.0395750029595417	0.03613	T	0.239776	0.03423	T	0.09530217	0.22426	0.11327622	0.27337	0.09530217	0.22426	0.11327622	0.27336	-5.449	0.41388	T	.	.	0.077	0.06803	B	.;.	.;.	0.302974	0.06786	3.305	0.83511777602203896	0.14766	0.02893	0.07682	N	AEFDCI	.	.	.	.	.	.	.	.	.	1.09901603177333E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.42	-0.0211	0.13278	0.178000	0.16634	.	.	0.233000	0.18164	0.002000	0.15269	0.000000	0.08366	0.095000	0.18041	0.0:0.0:0.3894:0.6106	3.881	0.08584	709	0.56835	MAGE homology domain;MAGE homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08333	2277.83	34	chrX	152766771	.	T	C	2277.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.402;DP=392;ExcessHet=0;FS=3.968;MLEAC=1;MLEAF=0.083;MQ=59.95;MQRankSum=1.29;QD=10.95;ReadPosRankSum=-0.259;SOR=0.996	GT:AD:DP:GQ:PL	0/1:114,94:208:99:2288,0,2938	5	0	1	0
chrX	154534419	154534419	G	A	exonic	G6PD	.	nonsynonymous SNV	G6PD:NM_000402:exon6:c.C653T:p.S218F,G6PD:NM_001042351:exon6:c.C563T:p.S188F,G6PD:NM_001360016:exon6:c.C563T:p.S188F	Favism, Autosomal dominant;Hemolytic anemia due to G6PD deficiency, X-linked recessive	1	1326	123	72	0	267	0.0914697	.	.	YES	25407	not_provided|Anemia,_nonspherocytic_hemolytic,_due_to_G6PD_deficiency|Malaria,_susceptibility_to|G6PD_CAGLIARI|G6PD_MEDITERRANEAN|G6PD_SASSARI|G6PD_deficiency|Inborn_genetic_diseases|See_cases|G6PD_deficient_hemolytic_anemia|G6PD-related_disorder|Hemolytic_anemia,_G6PD_deficient_(favism)	MedGen:C3661900|MONDO:MONDO:0010480,MedGen:C2720289,OMIM:300908,Orphanet:466026|MONDO:MONDO:0021024,MedGen:C1970028,OMIM:611162,Orphanet:673|.|.|.|MONDO:MONDO:0005775,MedGen:C2939465|MeSH:D030342,MedGen:C0950123|.|.|.|.	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.811	.	0.0007	0.000794702	0.0027	0.0004	0.0006	0	0	0.0011	0.0112	0.0160	0.0024838	384	154602	rs5030868	0.0015	0.0015	0.0011	0.0023	0.0435	0.0014	0.0014	0.0383	0.0363	0.0003	2.842e-05	0.0055	0	0	0.0435	0.0002	0.0032	0.0189	0.0007	0.0008	0.0006	0.0011	0.0149	0.0006	0.0005	0.0113	0.0100	0.0001	0	0	0.0060	0	0	0.0138	0.0002	0.0046	0.0149	0.017	0.52492	D	0.008	0.67890	D	0.022	0.18677	B	0.039	0.23607	B	0.000101	0.50451	D	0.177639	1	0.81001	D	3.42	0.91902	M	-4.87	0.98279	D	-4.22	0.75935	D	0.562	0.70615	0.957	0.96492	D	0.933	0.97805	D	10	0.012398928	0.00267	T	.	.	.	0.811	0.93892	.	.	0.989763325404	0.98964	0.927394258905308	0.92717	0.202134561341	0.22635	0.361571013927	0.19615	T	0.958441	0.99448	D	0.148364	0.69115	D	0.453964	0.93676	D	0.128705447749552	0.15261	T	0.953605	0.82399	D	0.90304965	0.91658	0.8944889	0.94585	0.9519563	0.96465	0.8714105	0.92964	-11.526	0.83968	D	0.6452008465600814	0.71653	0.361	0.69938	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.714215	0.53042	23.3	0.99560193252273865	0.71707	0.94225	0.60494	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999999999995	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.65	5.65	0.86881	5.542000	0.66927	9.812000	0.81753	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	15.929	0.79431	80	0.96670	Glucose-6-phosphate dehydrogenase, NAD-binding;Glucose-6-phosphate dehydrogenase, NAD-binding;Glucose-6-phosphate dehydrogenase, NAD-binding;.;Glucose-6-phosphate dehydrogenase, NAD-binding;Glucose-6-phosphate dehydrogenase, NAD-binding;Glucose-6-phosphate dehydrogenase, NAD-binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.025694	0.000000	0.007421	0.075099	0.000000	0.023529	0.013274	0.047368	0.08333	1137.83	35	chrX	154534419	.	G	A	1137.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.182;DP=266;ExcessHet=0;FS=1.718;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=1.23;SOR=0.767	GT:AD:DP:GQ:PL	0/1:46,43:89:99:1148,0,1151	5	0	1	0